From d40a485917c8e256ca1bd4967a7c3257cefcdc1b Mon Sep 17 00:00:00 2001 From: jamesemery Date: Wed, 11 Oct 2023 10:01:21 -0400 Subject: [PATCH 01/64] Funcotator Update for Datasource Release V1.8 (#8512) --- .../cosmic/createCosmicFusionGeneTsv.py | 4 +- .../cosmic/createSqliteCosmicDb.sh | 6 ++ .../cosmic/getCosmicDataSources.sh | 15 ++- .../data_sources/downloadHgncDataSource.sh | 2 +- .../finalizeFuncotatorReleaseDirectory.sh | 28 ++++++ scripts/funcotator/data_sources/getGencode.sh | 2 +- .../data_sources/getGencodeXHGNC.sh | 4 +- .../data_sources/getGencodeXRefseq.sh | 4 +- .../FuncotatorDataSourceDownloader.java | 77 ++++++++++++--- .../dataSources/DataSourceUtils.java | 37 +++++-- .../mafOutput/MafOutputRendererConstants.java | 43 ++++---- ...orDataSourceDownloaderIntegrationTest.java | 34 +++++-- .../dataSources/DataSourceUtilsUnitTest.java | 99 +++++++++++++++++-- .../dataSources/DbSnpIntegrationTest.java | 8 +- .../mafOutput/MafOutputRendererUnitTest.java | 22 +++++ .../utils/test/FuncotatorTestUtils.java | 8 +- 16 files changed, 312 insertions(+), 81 deletions(-) create mode 100644 scripts/funcotator/data_sources/finalizeFuncotatorReleaseDirectory.sh diff --git a/scripts/funcotator/data_sources/cosmic/createCosmicFusionGeneTsv.py b/scripts/funcotator/data_sources/cosmic/createCosmicFusionGeneTsv.py index 8964c9dc294..826795e92b5 100755 --- a/scripts/funcotator/data_sources/cosmic/createCosmicFusionGeneTsv.py +++ b/scripts/funcotator/data_sources/cosmic/createCosmicFusionGeneTsv.py @@ -90,7 +90,7 @@ def renderFusionGeneDictEntry(geneKey, fusionGeneDict): tsvReader = GenericTsvReader(inputFilename) headers = tsvReader.getFieldNames() print('Found headers (input): ' + str(headers)) - if "Translocation Name" not in headers: + if "TRANSLOCATION_NAME" not in headers: raise NotImplementedError("Could not find Translocation Name column in the input file.") outputHeaders = ['gene', 'fusion_genes', 'fusion_id'] @@ -99,7 +99,7 @@ def renderFusionGeneDictEntry(geneKey, fusionGeneDict): fusionGeneDict = OrderedDict() last_i = 0 for i, line in enumerate(tsvReader): - fusion_gene_description = line['Translocation Name'] + fusion_gene_description = line['TRANSLOCATION_NAME'] if len(fusion_gene_description.strip()) == 0: # blank diff --git a/scripts/funcotator/data_sources/cosmic/createSqliteCosmicDb.sh b/scripts/funcotator/data_sources/cosmic/createSqliteCosmicDb.sh index 800242de91a..b7a756a7932 100755 --- a/scripts/funcotator/data_sources/cosmic/createSqliteCosmicDb.sh +++ b/scripts/funcotator/data_sources/cosmic/createSqliteCosmicDb.sh @@ -18,6 +18,7 @@ set -e COSMIC_FILE=CosmicCompleteTargetedScreensMutantExport.tsv OUT_DB_FILE="Cosmic.db" +OUT_TMP_FOLDER="~/tmp" ################################################################################ @@ -29,6 +30,10 @@ if [[ $# -gt 1 ]] ; then OUT_DB_FILE=$2 fi +if [[ $# -gt 2 ]] ; then + OUT_TMP_FOLDER=$3 +fi + if [ ! -f ${COSMIC_FILE} ] ; then echo "ERROR: Given COSMIC file does not exist: ${COSMIC_FILE}" 1>&2 exit 1 @@ -42,6 +47,7 @@ sqlite3 ${OUT_DB_FILE} < cosmic/metadata.txt echo "User: ${EMAIL}" >> cosmic/metadata.txt diff --git a/scripts/funcotator/data_sources/downloadHgncDataSource.sh b/scripts/funcotator/data_sources/downloadHgncDataSource.sh index aa3d120d67d..b3e86a90b81 100755 --- a/scripts/funcotator/data_sources/downloadHgncDataSource.sh +++ b/scripts/funcotator/data_sources/downloadHgncDataSource.sh @@ -2,5 +2,5 @@ # Downloads the HGNC data source from the HGNC website. -curl 'https://www.genenames.org/cgi-bin/download?col=gd_hgnc_id&col=gd_app_sym&col=gd_app_name&col=gd_status&col=gd_locus_type&col=gd_locus_group&col=gd_prev_sym&col=gd_prev_name&col=gd_aliases&col=gd_name_aliases&col=gd_pub_chrom_map&col=gd_date_mod&col=gd_date_sym_change&col=gd_date_name_change&col=gd_pub_acc_ids&col=gd_enz_ids&col=gd_pub_eg_id&col=gd_pub_ensembl_id&col=gd_pubmed_ids&col=gd_pub_refseq_ids&col=family.id&col=family.name&col=gd_ccds_ids&col=gd_vega_ids&col=md_eg_id&col=md_mim_id&col=md_refseq_id&col=md_prot_id&col=md_ensembl_id&col=md_ucsc_id&status=Approved&status_opt=2&where=&order_by=gd_app_sym_sort&format=text&limit=&hgnc_dbtag=on&submit=submit' > hgnc_download_$(date +%b%d%Y).tsv +curl 'https://www.genenames.org/cgi-bin/download/custom?col=gd_hgnc_id&col=gd_app_sym&col=gd_app_name&col=gd_status&col=gd_locus_type&col=gd_locus_group&col=gd_prev_sym&col=gd_prev_name&col=gd_aliases&col=gd_name_aliases&col=gd_pub_chrom_map&col=gd_date_mod&col=gd_date_sym_change&col=gd_date_name_change&col=gd_pub_acc_ids&col=gd_enz_ids&col=gd_pub_eg_id&col=gd_pub_ensembl_id&col=gd_pubmed_ids&col=gd_pub_refseq_ids&col=family.id&col=family.name&col=gd_ccds_ids&col=gd_vega_ids&col=md_eg_id&col=md_mim_id&col=md_refseq_id&col=md_prot_id&col=md_ensembl_id&col=md_ucsc_id&status=Approved&status_opt=2&where=&order_by=gd_app_sym_sort&format=text&limit=&hgnc_dbtag=on&submit=submi' > hgnc_download_$(date +%b%d%Y).tsv diff --git a/scripts/funcotator/data_sources/finalizeFuncotatorReleaseDirectory.sh b/scripts/funcotator/data_sources/finalizeFuncotatorReleaseDirectory.sh new file mode 100644 index 00000000000..5f124ef6a67 --- /dev/null +++ b/scripts/funcotator/data_sources/finalizeFuncotatorReleaseDirectory.sh @@ -0,0 +1,28 @@ +#!/usr/bin/env bash + +#NOTE: This script has been checked in to aid in the release process for future Funcotator datasource bundles. + +echo "Making Tarballs of each Datasource Directory..." + +tar -zcvf funcotator_dataSources.v1.8.hg38.20230908s.tar.gz funcotator_dataSources.v1.8.hg38.20230908s +tar -zcvf funcotator_dataSources.v1.8.hg38.20230908g.tar.gz funcotator_dataSources.v1.8.hg38.20230908g +tar -zcvf funcotator_dataSources.v1.8.hg19.20230908s.tar.gz funcotator_dataSources.v1.8.hg19.20230908s +tar -zcvf funcotator_dataSources.v1.8.hg19.20230908g.tar.gz funcotator_dataSources.v1.8.hg19.20230908g + +echo "Making the various hashfiles for release" + +find funcotator_dataSources.v1.8.hg38.20230908s -type f | xargs md5sum > funcotator_dataSources.v1.8.hg38.20230908s.dir.long.md5sum +md5sum funcotator_dataSources.v1.8.hg38.20230908s.tar.gz | awk '{print $1}' > funcotator_dataSources.v1.8.hg38.20230908s.dir.md5sum +sha256sum funcotator_dataSources.v1.8.hg38.20230908s.tar.gz > funcotator_dataSources.v1.8.hg38.20230908s.sha256 + +find funcotator_dataSources.v1.8.hg38.20230908g -type f | xargs md5sum > funcotator_dataSources.v1.8.hg38.20230908g.dir.long.md5sum +md5sum funcotator_dataSources.v1.8.hg38.20230908g.tar.gz | awk '{print $1}' > funcotator_dataSources.v1.8.hg38.20230908g.dir.md5sum +sha256sum funcotator_dataSources.v1.8.hg38.20230908g.tar.gz > funcotator_dataSources.v1.8.hg38.20230908g.sha256 + +find funcotator_dataSources.v1.8.hg19.20230908s -type f | xargs md5sum > funcotator_dataSources.v1.8.hg19.20230908s.dir.long.md5sum +md5sum funcotator_dataSources.v1.8.hg19.20230908s.tar.gz | awk '{print $1}' > funcotator_dataSources.v1.8.hg19.20230908s.dir.md5sum +sha256sum funcotator_dataSources.v1.8.hg19.20230908s.tar.gz > funcotator_dataSources.v1.8.hg19.20230908s.sha256 + +find funcotator_dataSources.v1.8.hg19.20230908g -type f | xargs md5sum > funcotator_dataSources.v1.8.hg19.20230908g.dir.long.md5sum +md5sum funcotator_dataSources.v1.8.hg19.20230908g.tar.gz | awk '{print $1}' > funcotator_dataSources.v1.8.hg19.20230908g.dir.md5sum +sha256sum funcotator_dataSources.v1.8.hg19.20230908g.tar.gz > funcotator_dataSources.v1.8.hg19.20230908g.sha256 \ No newline at end of file diff --git a/scripts/funcotator/data_sources/getGencode.sh b/scripts/funcotator/data_sources/getGencode.sh index 7ab0316787b..aaf159add43 100755 --- a/scripts/funcotator/data_sources/getGencode.sh +++ b/scripts/funcotator/data_sources/getGencode.sh @@ -15,7 +15,7 @@ MAXARGS=0 # Latest release numbers for our references. # Update these numbers when a new Gencode is released. -LATEST_RELEASE=34 +LATEST_RELEASE=43 DATA_SOURCE_NAME="Gencode" OUT_DIR_NAME='gencode' diff --git a/scripts/funcotator/data_sources/getGencodeXHGNC.sh b/scripts/funcotator/data_sources/getGencodeXHGNC.sh index 656e6c8bc45..cb4ada59b1f 100755 --- a/scripts/funcotator/data_sources/getGencodeXHGNC.sh +++ b/scripts/funcotator/data_sources/getGencodeXHGNC.sh @@ -8,10 +8,10 @@ outFileBaseName="gencode_xhgnc" outExt=".tsv" hg19db="homo_sapiens_core_75_37" -hg38db="homo_sapiens_core_90_38" +hg38db="homo_sapiens_core_110_38" hg19FileName=${outFileBaseName}_v75_37.hg19${outExt} -hg38FileName=${outFileBaseName}_v90_38.hg38${outExt} +hg38FileName=${outFileBaseName}_v110_38.hg38${outExt} ################################################################################ diff --git a/scripts/funcotator/data_sources/getGencodeXRefseq.sh b/scripts/funcotator/data_sources/getGencodeXRefseq.sh index 58c06455e4b..809fe22fcbb 100755 --- a/scripts/funcotator/data_sources/getGencodeXRefseq.sh +++ b/scripts/funcotator/data_sources/getGencodeXRefseq.sh @@ -8,10 +8,10 @@ outFileBaseName="gencode_xrefseq" outExt=".tsv" hg19db="homo_sapiens_core_75_37" -hg38db="homo_sapiens_core_90_38" +hg38db="homo_sapiens_core_110_38" hg19FileName=${outFileBaseName}_v75_37.hg19${outExt} -hg38FileName=${outFileBaseName}_v90_38.hg38${outExt} +hg38FileName=${outFileBaseName}_v110_38.hg38${outExt} ################################################################################ diff --git a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorDataSourceDownloader.java b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorDataSourceDownloader.java index 8468594d506..80b7a5bce40 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorDataSourceDownloader.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorDataSourceDownloader.java @@ -32,8 +32,8 @@ *

* To download and extract the data sources, you can invoke {@link FuncotatorDataSourceDownloader} in the following ways: *

*

* @@ -63,6 +63,8 @@ public class FuncotatorDataSourceDownloader extends CommandLineProgram { public static final String GERMLINE_ARG_LONG_NAME = "germline"; public static final String OVERWRITE_ARG_LONG_NAME = "overwrite-output-file"; public static final String EXTRACT_AFTER_DOWNLOAD = "extract-after-download"; + public static final String HG38_ARG_LONG_NAME = "hg38"; + public static final String HG19_ARG_LONG_NAME = "hg19"; //================================================================================================================== // Private Static Members: @@ -73,18 +75,27 @@ public class FuncotatorDataSourceDownloader extends CommandLineProgram { // Private Static Members: // Set to always get the latest version of the data sources: - private static final String BASE_URL = DataSourceUtils.DATA_SOURCES_BUCKET_PATH + - DataSourceUtils.DATA_SOURCES_NAME_PREFIX + "." + DataSourceUtils.getDataSourceMaxVersionString(); + private static final String HG38_BASE_URL = DataSourceUtils.DATA_SOURCES_BUCKET_PATH + + DataSourceUtils.DATA_SOURCES_NAME_PREFIX + "." + DataSourceUtils.getDataSourceMaxVersionString(38); + private static final String HG19_BASE_URL = DataSourceUtils.DATA_SOURCES_BUCKET_PATH + + DataSourceUtils.DATA_SOURCES_NAME_PREFIX + "." + DataSourceUtils.getDataSourceMaxVersionString(19); + + private static final String HG38_GERMLINE_GCLOUD_DATASOURCES_BASEURL = HG38_BASE_URL + DataSourceUtils.DS_GERMLINE_NAME_MODIFIER; + private static final String HG19_GERMLINE_GCLOUD_DATASOURCES_BASEURL = HG19_BASE_URL + DataSourceUtils.DS_GERMLINE_NAME_MODIFIER; - private static final String GERMLINE_GCLOUD_DATASOURCES_BASEURL = BASE_URL + DataSourceUtils.DS_GERMLINE_NAME_MODIFIER; @VisibleForTesting - static final Path GERMLINE_GCLOUD_DATASOURCES_PATH = IOUtils.getPath(GERMLINE_GCLOUD_DATASOURCES_BASEURL + DataSourceUtils.DS_EXTENSION); - private static final Path GERMLINE_GCLOUD_DATASOURCES_SHA256_PATH = IOUtils.getPath(GERMLINE_GCLOUD_DATASOURCES_BASEURL + DataSourceUtils.DS_CHECKSUM_EXTENSION); + static final Path HG38_GERMLINE_GCLOUD_DATASOURCES_PATH = IOUtils.getPath(HG38_GERMLINE_GCLOUD_DATASOURCES_BASEURL + DataSourceUtils.DS_EXTENSION); + static final Path HG19_GERMLINE_GCLOUD_DATASOURCES_PATH = IOUtils.getPath(HG19_GERMLINE_GCLOUD_DATASOURCES_BASEURL + DataSourceUtils.DS_EXTENSION); + private static final Path HG38_GERMLINE_GCLOUD_DATASOURCES_SHA256_PATH = IOUtils.getPath(HG38_GERMLINE_GCLOUD_DATASOURCES_BASEURL + DataSourceUtils.DS_CHECKSUM_EXTENSION); + private static final Path HG19_GERMLINE_GCLOUD_DATASOURCES_SHA256_PATH = IOUtils.getPath(HG19_GERMLINE_GCLOUD_DATASOURCES_BASEURL + DataSourceUtils.DS_CHECKSUM_EXTENSION); - public static final String SOMATIC_GCLOUD_DATASOURCES_BASEURL = BASE_URL + DataSourceUtils.DS_SOMATIC_NAME_MODIFIER;; + public static final String HG38_SOMATIC_GCLOUD_DATASOURCES_BASEURL = HG38_BASE_URL + DataSourceUtils.DS_SOMATIC_NAME_MODIFIER;; + public static final String HG19_SOMATIC_GCLOUD_DATASOURCES_BASEURL = HG19_BASE_URL + DataSourceUtils.DS_SOMATIC_NAME_MODIFIER;; - public static final Path SOMATIC_GCLOUD_DATASOURCES_PATH = IOUtils.getPath(SOMATIC_GCLOUD_DATASOURCES_BASEURL + DataSourceUtils.DS_EXTENSION); - private static final Path SOMATIC_GCLOUD_DATASOURCES_SHA256_PATH = IOUtils.getPath(SOMATIC_GCLOUD_DATASOURCES_BASEURL + DataSourceUtils.DS_CHECKSUM_EXTENSION); + public static final Path HG38_SOMATIC_GCLOUD_DATASOURCES_PATH = IOUtils.getPath(HG38_SOMATIC_GCLOUD_DATASOURCES_BASEURL + DataSourceUtils.DS_EXTENSION); + public static final Path HG19_SOMATIC_GCLOUD_DATASOURCES_PATH = IOUtils.getPath(HG19_SOMATIC_GCLOUD_DATASOURCES_BASEURL + DataSourceUtils.DS_EXTENSION); + private static final Path HG38_SOMATIC_GCLOUD_DATASOURCES_SHA256_PATH = IOUtils.getPath(HG38_SOMATIC_GCLOUD_DATASOURCES_BASEURL + DataSourceUtils.DS_CHECKSUM_EXTENSION); + private static final Path HG19_SOMATIC_GCLOUD_DATASOURCES_SHA256_PATH = IOUtils.getPath(HG19_SOMATIC_GCLOUD_DATASOURCES_BASEURL + DataSourceUtils.DS_CHECKSUM_EXTENSION); //================================================================================================================== // Private Members: @@ -129,6 +140,23 @@ public class FuncotatorDataSourceDownloader extends CommandLineProgram { optional = true) protected boolean extractDataSourcesAfterDownload = false; + @Argument( + shortName = HG38_ARG_LONG_NAME, + fullName = HG38_ARG_LONG_NAME, + mutex = {HG19_ARG_LONG_NAME, TESTING_OVERRIDE_PATH_FOR_DATA_SOURCES_SHA256_ARG}, + doc = "If set, will extract data from the HG38 data sources bucket.", + optional = true) + protected boolean getHg38Datasources = false; + + @Argument( + //TODO should these be MUTEX or should one be allowed to download either? + shortName = HG19_ARG_LONG_NAME, + fullName = HG19_ARG_LONG_NAME, + mutex = {HG38_ARG_LONG_NAME, TESTING_OVERRIDE_PATH_FOR_DATA_SOURCES_SHA256_ARG}, + doc = "If set, will extract data from the HG19 data sources bucket.", + optional = true) + protected boolean getHg19Datasources = false; + // Testing arguments: @Hidden @Advanced @@ -164,6 +192,11 @@ protected void onStartup() { throw new UserException("Must select either somatic or germline datasources."); } + // Make sure the user specified at least one reference source to download: + if ((!getHg38Datasources) && (!getHg19Datasources) && (testingOverrideDataSourcesPath == null)) { + throw new UserException("Must select either HG19 or HG38 datasources."); + } + // Make sure the testing inputs are correct: if ( ((testingOverrideDataSourcesPath == null) && (testingOverrideDataSourcesSha256Path != null)) || ((testingOverrideDataSourcesSha256Path == null) && (testingOverrideDataSourcesPath != null)) ) { @@ -184,14 +217,26 @@ protected Object doWork() { // Get the correct data source: if ( getSomaticDataSources ) { - dataSourceDescription = "Somatic"; - dataSourcesPath = SOMATIC_GCLOUD_DATASOURCES_PATH; - dataSourcesSha256Path = SOMATIC_GCLOUD_DATASOURCES_SHA256_PATH; + if (getHg38Datasources) { + dataSourceDescription = "HG38_Somatic"; + dataSourcesPath = HG38_SOMATIC_GCLOUD_DATASOURCES_PATH; + dataSourcesSha256Path = HG38_SOMATIC_GCLOUD_DATASOURCES_SHA256_PATH; + } else { // Okay because HG38 and HG19 datasources are currently MUTEX and at least one is required + dataSourceDescription = "HG19_Somatic"; + dataSourcesPath = HG19_SOMATIC_GCLOUD_DATASOURCES_PATH; + dataSourcesSha256Path = HG19_SOMATIC_GCLOUD_DATASOURCES_SHA256_PATH; + } } else if ( getGermlineDataSources ) { - dataSourceDescription = "Germline"; - dataSourcesPath = GERMLINE_GCLOUD_DATASOURCES_PATH; - dataSourcesSha256Path = GERMLINE_GCLOUD_DATASOURCES_SHA256_PATH; + if (getHg38Datasources) { + dataSourceDescription = "HG38_Germline"; + dataSourcesPath = HG38_GERMLINE_GCLOUD_DATASOURCES_PATH; + dataSourcesSha256Path = HG38_GERMLINE_GCLOUD_DATASOURCES_SHA256_PATH; + } else { + dataSourceDescription = "HG19_Germline"; + dataSourcesPath = HG19_GERMLINE_GCLOUD_DATASOURCES_PATH; + dataSourcesSha256Path = HG19_GERMLINE_GCLOUD_DATASOURCES_SHA256_PATH; + } } else { // Test case: diff --git a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/DataSourceUtils.java b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/DataSourceUtils.java index 48dd6560bee..01791264a01 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/DataSourceUtils.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/DataSourceUtils.java @@ -53,7 +53,9 @@ private DataSourceUtils() {} private static final String MANIFEST_SOURCE_LINE_START = "Source:"; private static final String MANIFEST_ALT_SOURCE_LINE_START = "Alternate Source:"; @VisibleForTesting - static final Pattern VERSION_PATTERN = Pattern.compile(MANIFEST_VERSION_LINE_START + "\\s+(\\d+)\\.(\\d+)\\.(\\d\\d\\d\\d)(\\d\\d)(\\d\\d)(.*)"); + static final Pattern OLD_VERSION_PATTERN = Pattern.compile(MANIFEST_VERSION_LINE_START + "\\s+(\\d+)\\.(\\d+)\\.(\\d\\d\\d\\d)(\\d\\d)(\\d\\d)(.*)"); + static final Pattern NEW_VERSION_PATTERN = Pattern.compile(MANIFEST_VERSION_LINE_START + "\\s+(\\d+)\\.(\\d+)\\.hg(\\d+)\\.(\\d\\d\\d\\d)(\\d\\d)(\\d\\d)(.*)"); + private static final Pattern SOURCE_PATTERN = Pattern.compile(MANIFEST_SOURCE_LINE_START + "\\s+(ftp.*)"); private static final Pattern ALT_SOURCE_PATTERN = Pattern.compile(MANIFEST_ALT_SOURCE_LINE_START + "\\s+(gs.*)"); @@ -69,9 +71,9 @@ private DataSourceUtils() {} @VisibleForTesting static final int MAX_MAJOR_VERSION_NUMBER = 1; @VisibleForTesting - static final int MAX_MINOR_VERSION_NUMBER = 7; + static final int MAX_MINOR_VERSION_NUMBER = 8; @VisibleForTesting - static final LocalDate MAX_DATE = LocalDate.of(2020, Month.MAY, 21); + static final LocalDate MAX_DATE = LocalDate.of(2023, Month.SEPTEMBER, 8); //================================================================================================================== // Public Static Members: @@ -80,7 +82,7 @@ private DataSourceUtils() {} public static final String CURRENT_MINIMUM_DATA_SOURCE_VERSION = getDataSourceMinVersionString(); /** The maximum supported version of the data sources for funcotator to run. */ - public static final String CURRENT_MAXIMUM_DATA_SOURCE_VERSION = getDataSourceMaxVersionString(); + public static final String CURRENT_MAXIMUM_DATA_SOURCE_VERSION = getDataSourceMaxVersionString(38); public static final String MANIFEST_FILE_NAME = "MANIFEST.txt"; public static final String DATA_SOURCES_FTP_PATH = "ftp://gsapubftp-anonymous@ftp.broadinstitute.org/bundle/funcotator/"; @@ -88,6 +90,8 @@ private DataSourceUtils() {} public static final String DATA_SOURCES_NAME_PREFIX = "funcotator_dataSources"; public static final String DS_SOMATIC_NAME_MODIFIER = "s"; public static final String DS_GERMLINE_NAME_MODIFIER = "g"; + public static final String DS_HG38_NAME_MODIFIER = "hg38"; + public static final String DS_HG19_NAME_MODIFIER = "hg19"; public static final String DS_EXTENSION = ".tar.gz"; public static final String DS_CHECKSUM_EXTENSION = ".sha256"; @@ -137,8 +141,8 @@ public static String getDataSourceMinVersionString() { * {@link #MAX_DATE} * @return A {@link String} representing the Max version information as it would appear in the data sources file name. */ - public static String getDataSourceMaxVersionString() { - return getDataSourceVersionString(MAX_MAJOR_VERSION_NUMBER, MAX_MINOR_VERSION_NUMBER, MAX_DATE); + public static String getDataSourceMaxVersionString(final int ref) { + return getNewDataSourceVersionString(MAX_MAJOR_VERSION_NUMBER, MAX_MINOR_VERSION_NUMBER, ref, MAX_DATE); } @@ -159,6 +163,25 @@ public static String getDataSourceVersionString(final int major, final int minor date.getDayOfMonth() ); } + /** + * Get the string representing the given version information for funcotator as it would be written in the data sources + * release files. + * @param major {@code int} representing the major version of the data sources to use. + * @param minor {@code int} representing the minor version of the data sources to use. + * @param ref {@code int} representing the hg reference number of the data sources to use. + * @param date {@link LocalDate} representing the date of the data sources to use. + * @return A {@link String} representing the given version information as it would appear in the data sources file name. + */ + public static String getNewDataSourceVersionString(final int major, final int minor, final int ref, final LocalDate date) { + return String.format("v%d.%d.hg%d.%d%02d%02d", + major, + minor, + ref, + date.getYear(), + date.getMonthValue(), + date.getDayOfMonth() + ); + } /** * Initializes the data sources for {@link Funcotator}. @@ -704,7 +727,7 @@ private static boolean logDataSourcesInfo(final Path dataSourcesPath) { while ((line != null) && ((version == null) || (source == null) || (alternateSource == null))) { if (version == null && line.startsWith(MANIFEST_VERSION_LINE_START)) { - final Matcher matcher = VERSION_PATTERN.matcher(line); + final Matcher matcher = NEW_VERSION_PATTERN.matcher(line); if ( matcher.matches() ) { versionMajor = Integer.valueOf(matcher.group(1)); versionMinor = Integer.valueOf(matcher.group(2)); diff --git a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/mafOutput/MafOutputRendererConstants.java b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/mafOutput/MafOutputRendererConstants.java index 359ab701153..9a7be220c34 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/mafOutput/MafOutputRendererConstants.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/mafOutput/MafOutputRendererConstants.java @@ -178,19 +178,20 @@ public class MafOutputRendererConstants { static final Map VariantClassificationMapInverse; // Output Field Name Map Defaults: - static final List OutputFieldNameMap_Hugo_Symbol = Arrays.asList(FieldName_Hugo_Symbol, "Gencode_19_hugoSymbol", "Gencode_27_hugoSymbol", "Gencode_28_hugoSymbol", "Gencode_34_hugoSymbol", "gene", "Gene"); + //TODO these are hardcoded to gencode versions and should be updated to generalize to any version of gencode (see https://github.com/broadinstitute/gatk/issues/8482) + static final List OutputFieldNameMap_Hugo_Symbol = Arrays.asList(FieldName_Hugo_Symbol, "Gencode_19_hugoSymbol", "Gencode_27_hugoSymbol", "Gencode_28_hugoSymbol", "Gencode_34_hugoSymbol", "Gencode_43_hugoSymbol", "gene", "Gene"); static final List OutputFieldNameMap_Entrez_Gene_Id = Arrays.asList(FieldName_Entrez_Gene_Id, "HGNC_Entrez_Gene_ID", "HGNC_Entrez Gene ID", "HGNC_Entrez_Gene_ID(supplied_by_NCBI)", "HGNC_Entrez Gene ID(supplied by NCBI)", "entrez_id", "gene_id"); static final List OutputFieldNameMap_Center = Arrays.asList(FieldName_Center, "center"); - static final List OutputFieldNameMap_NCBI_Build = Arrays.asList(FieldName_NCBI_Build, "Gencode_19_ncbiBuild", "Gencode_27_ncbiBuild", "Gencode_28_ncbiBuild", "Gencode_34_ncbiBuild", "ncbi_build"); - static final List OutputFieldNameMap_Chromosome = Arrays.asList(FieldName_Chromosome, "Gencode_19_chromosome", "Gencode_27_chromosome", "Gencode_28_chromosome", "Gencode_34_chromosome", "chr", "contig", "chromosome", "chrom", "Chrom"); - static final List OutputFieldNameMap_Start_Position = Arrays.asList(FieldName_Start_Position, "Start_position", "Gencode_19_start", "Gencode_27_start", "Gencode_28_start", "Gencode_34_start", "start", "Start", "start_pos", "pos"); - static final List OutputFieldNameMap_End_Position = Arrays.asList(FieldName_End_Position, "End_position", "Gencode_19_end", "Gencode_27_end", "Gencode_28_end", "Gencode_34_end", "end", "End", "end_pos"); + static final List OutputFieldNameMap_NCBI_Build = Arrays.asList(FieldName_NCBI_Build, "Gencode_19_ncbiBuild", "Gencode_27_ncbiBuild", "Gencode_28_ncbiBuild", "Gencode_34_ncbiBuild", "Gencode_43_ncbiBuild", "ncbi_build"); + static final List OutputFieldNameMap_Chromosome = Arrays.asList(FieldName_Chromosome, "Gencode_19_chromosome", "Gencode_27_chromosome", "Gencode_28_chromosome", "Gencode_34_chromosome", "Gencode_43_chromosome", "chr", "contig", "chromosome", "chrom", "Chrom"); + static final List OutputFieldNameMap_Start_Position = Arrays.asList(FieldName_Start_Position, "Start_position", "Gencode_19_start", "Gencode_27_start", "Gencode_28_start", "Gencode_34_start", "Gencode_43_start", "start", "Start", "start_pos", "pos"); + static final List OutputFieldNameMap_End_Position = Arrays.asList(FieldName_End_Position, "End_position", "Gencode_19_end", "Gencode_27_end", "Gencode_28_end", "Gencode_34_end", "Gencode_43_end", "end", "End", "end_pos"); static final List OutputFieldNameMap_Strand = Collections.singletonList(FieldName_Strand); - static final List OutputFieldNameMap_Variant_Classification = Arrays.asList(FieldName_Variant_Classification, "Gencode_19_variantClassification", "Gencode_27_variantClassification", "Gencode_28_variantClassification", "Gencode_34_variantClassification", "variant_classification"); - static final List OutputFieldNameMap_Variant_Type = Arrays.asList(FieldName_Variant_Type, "Gencode_19_variantType", "Gencode_27_variantType", "Gencode_28_variantType", "Gencode_34_variantType", "variant_type"); - static final List OutputFieldNameMap_Reference_Allele = Arrays.asList(FieldName_Reference_Allele, "Gencode_19_refAllele", "Gencode_27_refAllele", "Gencode_28_refAllele", "Gencode_34_refAllele", "ref", "ref_allele", "reference_allele"); - static final List OutputFieldNameMap_Tumor_Seq_Allele1 = Arrays.asList(FieldName_Tumor_Seq_Allele1, "Gencode_19_tumorSeqAllele1", "Gencode_27_tumorSeqAllele1", "Gencode_28_tumorSeqAllele1", "Gencode_34_tumorSeqAllele1", "ref", "ref_allele", "reference_allele"); - static final List OutputFieldNameMap_Tumor_Seq_Allele2 = Arrays.asList(FieldName_Tumor_Seq_Allele2, "Gencode_19_tumorSeqAllele2", "Gencode_27_tumorSeqAllele2", "Gencode_28_tumorSeqAllele2", "Gencode_34_tumorSeqAllele2", "alt", "alt_allele", "alt2", "alt_allele2", "alternate_allele2", "observed_allele2", "alternate_allele", "observed_allele", "alt1", "alt_allele1", "alternate_allele1", "observed_allele1"); + static final List OutputFieldNameMap_Variant_Classification = Arrays.asList(FieldName_Variant_Classification, "Gencode_19_variantClassification", "Gencode_27_variantClassification", "Gencode_28_variantClassification", "Gencode_34_variantClassification", "Gencode_43_variantClassification", "variant_classification"); + static final List OutputFieldNameMap_Variant_Type = Arrays.asList(FieldName_Variant_Type, "Gencode_19_variantType", "Gencode_27_variantType", "Gencode_28_variantType", "Gencode_34_variantType", "Gencode_43_variantType", "variant_type"); + static final List OutputFieldNameMap_Reference_Allele = Arrays.asList(FieldName_Reference_Allele, "Gencode_19_refAllele", "Gencode_27_refAllele", "Gencode_28_refAllele", "Gencode_34_refAllele", "Gencode_43_refAllele", "ref", "ref_allele", "reference_allele"); + static final List OutputFieldNameMap_Tumor_Seq_Allele1 = Arrays.asList(FieldName_Tumor_Seq_Allele1, "Gencode_19_tumorSeqAllele1", "Gencode_27_tumorSeqAllele1", "Gencode_28_tumorSeqAllele1", "Gencode_34_tumorSeqAllele1", "Gencode_43_tumorSeqAllele1", "ref", "ref_allele", "reference_allele"); + static final List OutputFieldNameMap_Tumor_Seq_Allele2 = Arrays.asList(FieldName_Tumor_Seq_Allele2, "Gencode_19_tumorSeqAllele2", "Gencode_27_tumorSeqAllele2", "Gencode_28_tumorSeqAllele2", "Gencode_34_tumorSeqAllele2", "Gencode_43_tumorSeqAllele2", "alt", "alt_allele", "alt2", "alt_allele2", "alternate_allele2", "observed_allele2", "alternate_allele", "observed_allele", "alt1", "alt_allele1", "alternate_allele1", "observed_allele1"); static final List OutputFieldNameMap_dbSNP_RS = Arrays.asList(FieldName_dbSNP_RS, "dbsnp_rs", "dbSNP_RSPOS"); static final List OutputFieldNameMap_dbSNP_Val_Status = Arrays.asList(FieldName_dbSNP_Val_Status, MAF_DBSNP_VAL_STATUS_FIELD, "dbsnp_val_status", DBSNP_VLD_NAME); static final List OutputFieldNameMap_Tumor_Sample_Barcode = Arrays.asList(FieldName_Tumor_Sample_Barcode, "tumor_barcode", "tumor_id", "case_barcode", "case_id", "tumor_name"); @@ -212,15 +213,15 @@ public class MafOutputRendererConstants { static final List OutputFieldNameMap_Sequencer = Arrays.asList(FieldName_Sequencer, "sequencer", "platform"); static final List OutputFieldNameMap_Tumor_Sample_UUID = Arrays.asList(FieldName_Tumor_Sample_UUID, "tumor_uuid", "case_uuid", "tumor_barcode", "tumor_id", "case_barcode", "case_id", "tumor_name", "Tumor_Sample_Barcode"); static final List OutputFieldNameMap_Matched_Norm_Sample_UUID = Arrays.asList(FieldName_Matched_Norm_Sample_UUID, "normal_uuid", "control_uuid", "normal_barcode", "normal_id", "control_barcode", "control_id", "normal_name", "sample_name", "Matched_Norm_Sample_Barcode"); - static final List OutputFieldNameMap_Genome_Change = Arrays.asList(FieldName_Genome_Change, "Gencode_19_genomeChange", "Gencode_27_genomeChange", "Gencode_28_genomeChange", "Gencode_34_genomeChange", "genome_change"); - static final List OutputFieldNameMap_Annotation_Transcript = Arrays.asList(FieldName_Annotation_Transcript, "Gencode_19_annotationTranscript", "Gencode_27_annotationTranscript", "Gencode_28_annotationTranscript", "Gencode_34_annotationTranscript", "annotation_transcript", "transcript_id"); - static final List OutputFieldNameMap_Transcript_Strand = Arrays.asList(FieldName_Transcript_Strand, "Gencode_19_transcriptStrand", "Gencode_27_transcriptStrand", "Gencode_28_transcriptStrand", "Gencode_34_transcriptStrand", "transcript_strand"); - static final List OutputFieldNameMap_Transcript_Exon = Arrays.asList(FieldName_Transcript_Exon, "Gencode_19_transcriptExon", "Gencode_27_transcriptExon", "Gencode_28_transcriptExon", "Gencode_34_transcriptExon", "transcript_exon"); - static final List OutputFieldNameMap_Transcript_Position = Arrays.asList(FieldName_Transcript_Position, "Gencode_19_transcriptPos", "Gencode_27_transcriptPos", "Gencode_28_transcriptPos", "Gencode_34_transcriptPos", "transcript_position"); - static final List OutputFieldNameMap_cDNA_Change = Arrays.asList(FieldName_cDNA_Change, "Gencode_19_cDnaChange", "Gencode_27_cDnaChange", "Gencode_28_cDnaChange", "Gencode_34_cDnaChange", "transcript_change"); - static final List OutputFieldNameMap_Codon_Change = Arrays.asList(FieldName_Codon_Change, "Gencode_19_codonChange", "Gencode_27_codonChange", "Gencode_28_codonChange", "Gencode_34_codonChange", "codon_change"); - static final List OutputFieldNameMap_Protein_Change = Arrays.asList(FieldName_Protein_Change, "Gencode_19_proteinChange", "Gencode_27_proteinChange", "Gencode_28_proteinChange", "Gencode_34_proteinChange", "protein_change"); - static final List OutputFieldNameMap_Other_Transcripts = Arrays.asList(FieldName_Other_Transcripts, "Gencode_19_otherTranscripts", "Gencode_27_otherTranscripts", "Gencode_28_otherTranscripts", "Gencode_34_otherTranscripts", "other_transcripts"); + static final List OutputFieldNameMap_Genome_Change = Arrays.asList(FieldName_Genome_Change, "Gencode_19_genomeChange", "Gencode_27_genomeChange", "Gencode_28_genomeChange", "Gencode_34_genomeChange", "Gencode_43_genomeChange", "genome_change"); + static final List OutputFieldNameMap_Annotation_Transcript = Arrays.asList(FieldName_Annotation_Transcript, "Gencode_19_annotationTranscript", "Gencode_27_annotationTranscript", "Gencode_28_annotationTranscript", "Gencode_34_annotationTranscript", "Gencode_43_annotationTranscript", "annotation_transcript", "transcript_id"); + static final List OutputFieldNameMap_Transcript_Strand = Arrays.asList(FieldName_Transcript_Strand, "Gencode_19_transcriptStrand", "Gencode_27_transcriptStrand", "Gencode_28_transcriptStrand", "Gencode_34_transcriptStrand", "Gencode_43_transcriptStrand", "transcript_strand"); + static final List OutputFieldNameMap_Transcript_Exon = Arrays.asList(FieldName_Transcript_Exon, "Gencode_19_transcriptExon", "Gencode_27_transcriptExon", "Gencode_28_transcriptExon", "Gencode_34_transcriptExon", "Gencode_43_transcriptExon", "transcript_exon"); + static final List OutputFieldNameMap_Transcript_Position = Arrays.asList(FieldName_Transcript_Position, "Gencode_19_transcriptPos", "Gencode_27_transcriptPos", "Gencode_28_transcriptPos", "Gencode_34_transcriptPos", "Gencode_43_transcriptPos", "transcript_position"); + static final List OutputFieldNameMap_cDNA_Change = Arrays.asList(FieldName_cDNA_Change, "Gencode_19_cDnaChange", "Gencode_27_cDnaChange", "Gencode_28_cDnaChange", "Gencode_34_cDnaChange", "Gencode_43_cDnaChange", "transcript_change"); + static final List OutputFieldNameMap_Codon_Change = Arrays.asList(FieldName_Codon_Change, "Gencode_19_codonChange", "Gencode_27_codonChange", "Gencode_28_codonChange", "Gencode_34_codonChange", "Gencode_43_codonChange", "codon_change"); + static final List OutputFieldNameMap_Protein_Change = Arrays.asList(FieldName_Protein_Change, "Gencode_19_proteinChange", "Gencode_27_proteinChange", "Gencode_28_proteinChange", "Gencode_34_proteinChange", "Gencode_43_proteinChange", "protein_change"); + static final List OutputFieldNameMap_Other_Transcripts = Arrays.asList(FieldName_Other_Transcripts, "Gencode_19_otherTranscripts", "Gencode_27_otherTranscripts", "Gencode_28_otherTranscripts", "Gencode_34_otherTranscripts", "Gencode_43_otherTranscripts", "other_transcripts"); static final List OutputFieldNameMap_Refseq_mRNA_Id = Arrays.asList(FieldName_Refseq_mRNA_Id, "Gencode_XRefSeq_mRNA_id", "gencode_xref_refseq_mRNA_id", "ENSEMBL_RefSeq_mRNA_accession", "RefSeq_mRNA_Id", "HGNC_RefSeq IDs"); static final List OutputFieldNameMap_Refseq_prot_Id = Arrays.asList(FieldName_Refseq_prot_Id, "Gencode_XRefSeq_prot_acc", "gencode_xref_refseq_prot_acc", "ENSEMBL_RefSeq_protein_accession", "RefSeq_prot_Id"); static final List OutputFieldNameMap_SwissProt_acc_Id = Arrays.asList(FieldName_SwissProt_acc_Id, "Simple_Uniprot_uniprot_accession", "uniprot_accession", "UniProt_uniprot_accession"); @@ -243,8 +244,8 @@ public class MafOutputRendererConstants { static final List OutputFieldNameMap_TCGAscape_Amplification_Peaks = Arrays.asList(FieldName_TCGAscape_Amplification_Peaks, "TCGAScape_Amplification_Peaks"); static final List OutputFieldNameMap_TCGAscape_Deletion_Peaks = Arrays.asList(FieldName_TCGAscape_Deletion_Peaks, "TCGAScape_Deletion_Peaks"); static final List OutputFieldNameMap_DrugBank = Arrays.asList(FieldName_DrugBank, "Simple_Uniprot_DrugBank", "UniProt_DrugBank"); - static final List OutputFieldNameMap_ref_context = Arrays.asList(FieldName_ref_context, "Gencode_19_referenceContext", "Gencode_27_referenceContext", "Gencode_28_referenceContext", "Gencode_34_referenceContext", "ref_context"); - static final List OutputFieldNameMap_gc_content = Arrays.asList(FieldName_gc_content, "Gencode_19_gcContent", "Gencode_27_gcContent", "Gencode_28_gcContent", "Gencode_34_gcContent", "gc_content"); + static final List OutputFieldNameMap_ref_context = Arrays.asList(FieldName_ref_context, "Gencode_19_referenceContext", "Gencode_27_referenceContext", "Gencode_28_referenceContext", "Gencode_34_referenceContext", "Gencode_43_referenceContext", "ref_context"); + static final List OutputFieldNameMap_gc_content = Arrays.asList(FieldName_gc_content, "Gencode_19_gcContent", "Gencode_27_gcContent", "Gencode_28_gcContent", "Gencode_34_gcContent", "Gencode_43_gcContent", "gc_content"); static final List OutputFieldNameMap_CCLE_ONCOMAP_overlapping_mutations = Arrays.asList(FieldName_CCLE_ONCOMAP_overlapping_mutations, "CCLE_By_GP_overlapping_mutations"); static final List OutputFieldNameMap_CCLE_ONCOMAP_total_mutations_in_gene = Arrays.asList(FieldName_CCLE_ONCOMAP_total_mutations_in_gene, "CCLE_By_Gene_total_mutations_in_gene"); static final List OutputFieldNameMap_CGC_Mutation_Type = Arrays.asList(FieldName_CGC_Mutation_Type, "CGC_Mutation Type"); diff --git a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorDataSourceDownloaderIntegrationTest.java b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorDataSourceDownloaderIntegrationTest.java index 932cd39f087..e8f477c130c 100644 --- a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorDataSourceDownloaderIntegrationTest.java +++ b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorDataSourceDownloaderIntegrationTest.java @@ -30,20 +30,33 @@ public class FuncotatorDataSourceDownloaderIntegrationTest extends CommandLinePr //================================================================================================================== // Helper Methods: - private Path getDataSourceRemotePath(final String dsTypeArg) { + private Path getDataSourceRemotePath(final String dsTypeArg, final String refVer) { switch (dsTypeArg) { case FuncotatorDataSourceDownloader.SOMATIC_ARG_LONG_NAME: - return FuncotatorDataSourceDownloader.SOMATIC_GCLOUD_DATASOURCES_PATH; + switch (refVer) { + case "hg19": + return FuncotatorDataSourceDownloader.HG19_SOMATIC_GCLOUD_DATASOURCES_PATH; + case "hg38": + return FuncotatorDataSourceDownloader.HG38_SOMATIC_GCLOUD_DATASOURCES_PATH; + default: throw new GATKException("Data source Reference Version does not exist: " + refVer); + } + case FuncotatorDataSourceDownloader.GERMLINE_ARG_LONG_NAME: - return FuncotatorDataSourceDownloader.GERMLINE_GCLOUD_DATASOURCES_PATH; + switch (refVer) { + case "hg19": + return FuncotatorDataSourceDownloader.HG19_GERMLINE_GCLOUD_DATASOURCES_PATH; + case "hg38": + return FuncotatorDataSourceDownloader.HG38_GERMLINE_GCLOUD_DATASOURCES_PATH; + default: throw new GATKException("Data source Reference Version does not exist: " + refVer); + } default: throw new GATKException("Data source type does not exist: " + dsTypeArg); } } - private void verifyDataSourcesExistThenDeleteThem(final String dsTypeArg, final boolean doExtract) { + private void verifyDataSourcesExistThenDeleteThem(final String dsTypeArg, final String refVer, final boolean doExtract) { // Get the path to our files: final Path currentPath = IOUtils.getPath("."); - final Path remoteDataSourcePath = getDataSourceRemotePath(dsTypeArg); + final Path remoteDataSourcePath = getDataSourceRemotePath(dsTypeArg, refVer); final Path expectedDownloadedDataSourcePath = currentPath.resolve(remoteDataSourcePath.getFileName().toString()); // Verify it exists and delete it: @@ -105,36 +118,42 @@ private Object[][] provideForTestDownload() { return new Object[][] { { FuncotatorDataSourceDownloader.SOMATIC_ARG_LONG_NAME, + FuncotatorDataSourceDownloader.HG38_ARG_LONG_NAME, true, true, false }, { FuncotatorDataSourceDownloader.SOMATIC_ARG_LONG_NAME, + FuncotatorDataSourceDownloader.HG19_ARG_LONG_NAME, true, false, false }, { FuncotatorDataSourceDownloader.GERMLINE_ARG_LONG_NAME, + FuncotatorDataSourceDownloader.HG38_ARG_LONG_NAME, true, true, false }, { FuncotatorDataSourceDownloader.GERMLINE_ARG_LONG_NAME, + FuncotatorDataSourceDownloader.HG19_ARG_LONG_NAME, true, false, false }, { FuncotatorDataSourceDownloader.SOMATIC_ARG_LONG_NAME, + FuncotatorDataSourceDownloader.HG38_ARG_LONG_NAME, true, false, true }, { FuncotatorDataSourceDownloader.SOMATIC_ARG_LONG_NAME, + FuncotatorDataSourceDownloader.HG19_ARG_LONG_NAME, true, false, true @@ -149,10 +168,11 @@ private Object[][] provideForTestDownload() { dataProvider = "provideForTestDownload", groups = {"funcotatorValidation", "bucket"} ) - void testDownloadRealDataSources(final String dsTypeArg, final boolean doOverwrite, final boolean doValidate, final boolean doExtract) { + void testDownloadRealDataSources(final String dsTypeArg, final String refVer, final boolean doOverwrite, final boolean doValidate, final boolean doExtract) { final ArgumentsBuilder arguments = new ArgumentsBuilder(); arguments.add(dsTypeArg, true); + arguments.add(refVer, true); arguments.add(FuncotatorDataSourceDownloader.OVERWRITE_ARG_LONG_NAME, doOverwrite); arguments.add(FuncotatorDataSourceDownloader.VALIDATE_INTEGRITY_ARG_LONG_NAME, doValidate); arguments.add(FuncotatorDataSourceDownloader.EXTRACT_AFTER_DOWNLOAD, doExtract); @@ -162,7 +182,7 @@ void testDownloadRealDataSources(final String dsTypeArg, final boolean doOverwri // Now verify we got the data sources and clean up the files // so we don't have up to 30 gigs of stuff lying around: - verifyDataSourcesExistThenDeleteThem(dsTypeArg, doExtract); + verifyDataSourcesExistThenDeleteThem(dsTypeArg, refVer, doExtract); } @Test(dataProvider = "provideForTestDownloadSmallDummyDataSources", diff --git a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/DataSourceUtilsUnitTest.java b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/DataSourceUtilsUnitTest.java index 442281e3a4d..943043724bf 100644 --- a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/DataSourceUtilsUnitTest.java +++ b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/DataSourceUtilsUnitTest.java @@ -318,7 +318,7 @@ private Iterator provideForValidateVersionInformation() { } @DataProvider - private Iterator provideForTestVersionRegex() { + private Iterator provideForTestOldVersionRegex() { final ArrayList testArgs = new ArrayList<>(); @@ -351,6 +351,44 @@ private Iterator provideForTestVersionRegex() { } + @DataProvider + private Iterator provideForTestNewVersionRegex() { + + final ArrayList testArgs = new ArrayList<>(); + + final List baseArgs = createBaseTestVersionData(); + final String[] refVersions = new String[] { "hg19", "hg38"}; + + for ( final Object[] args : baseArgs ) { + for ( int whitespace = 0; whitespace < 2; ++whitespace ) { + for ( int decoratorCount = 0; decoratorCount < 10; ++decoratorCount ) { + for ( int refidx = 0; refidx < refVersions.length; ++refidx ) { + + // Some sanity checks here for proper version numbers: + if (((Integer) args[0]) < 0 || ((Integer) args[1]) < 0) { + continue; + } + + final String whitespaceString = whitespace != 0 ? "\t \t \t " : " "; + final String decoratorString = decoratorCount != 0 ? RandomStringUtils.randomAlphanumeric(decoratorCount) : ""; + + testArgs.add( + new Object[]{ + args[0], args[1], args[2], + refVersions[refidx], + decoratorString, + whitespaceString + } + ); + } + } + } + } + + return testArgs.iterator(); + + } + @DataProvider private Object[][] provideForGetDataSourceVersionString() { return new Object[][] { @@ -409,10 +447,11 @@ public void testValidateVersionInformation(final Integer major, @Test public void testGetDataSourceMaxVersionString() { Assert.assertEquals( - DataSourceUtils.getDataSourceMaxVersionString(), - DataSourceUtils.getDataSourceVersionString( + DataSourceUtils.getDataSourceMaxVersionString(38), + DataSourceUtils.getNewDataSourceVersionString( DataSourceUtils.MAX_MAJOR_VERSION_NUMBER, DataSourceUtils.MAX_MINOR_VERSION_NUMBER, + 38, DataSourceUtils.MAX_DATE ) ); @@ -430,8 +469,51 @@ public void testGetDataSourceMinVersionString() { ); } - @Test(dataProvider = "provideForTestVersionRegex") - public void testVersionRegex(final Integer major, + @Test(dataProvider = "provideForTestNewVersionRegex") + public void testNewVersionRegex(final Integer major, + final Integer minor, + final LocalDate releaseDate, + final String reference, + final String decorator, + final String leadingWhitespace ) { + + // Construct the string: + final String versionString = String.format( + "%s%s%d.%d.%s.%4d%02d%02d%s", + DataSourceUtils.MANIFEST_VERSION_LINE_START, + leadingWhitespace, + major, + minor, + reference, + releaseDate.getYear(), + releaseDate.getMonthValue(), + releaseDate.getDayOfMonth(), + decorator + ); + + final Matcher matcher = DataSourceUtils.NEW_VERSION_PATTERN.matcher(versionString); + + Assert.assertTrue(matcher.matches()); + + final Integer versionMajor = Integer.valueOf(matcher.group(1)); + final Integer versionMinor = Integer.valueOf(matcher.group(2)); + final Integer versionRef = Integer.valueOf(matcher.group(3)); + final Integer versionYear = Integer.valueOf(matcher.group(4)); + final Integer versionMonth = Integer.valueOf(matcher.group(5)); + final Integer versionDay = Integer.valueOf(matcher.group(6)); + final String versionDecorator = matcher.group(7); + + Assert.assertEquals( versionMajor, major ); + Assert.assertEquals( versionMinor, minor ); + Assert.assertEquals( "hg"+versionRef, reference ); + Assert.assertEquals( versionYear.intValue(), releaseDate.getYear() ); + Assert.assertEquals( versionMonth.intValue(), releaseDate.getMonthValue() ); + Assert.assertEquals( versionDay.intValue(), releaseDate.getDayOfMonth() ); + Assert.assertEquals( versionDecorator, decorator ); + } + + @Test(dataProvider = "provideForTestOldVersionRegex") + public void testOldVersionRegex(final Integer major, final Integer minor, final LocalDate releaseDate, final String decorator, @@ -450,7 +532,7 @@ public void testVersionRegex(final Integer major, decorator ); - final Matcher matcher = DataSourceUtils.VERSION_PATTERN.matcher(versionString); + final Matcher matcher = DataSourceUtils.OLD_VERSION_PATTERN.matcher(versionString); Assert.assertTrue(matcher.matches()); @@ -479,7 +561,10 @@ public void testCurrentDataSourcesAvailable() { "." + DataSourceUtils.getDataSourceMinVersionString(), DataSourceUtils.DATA_SOURCES_BUCKET_PATH + DataSourceUtils.DATA_SOURCES_NAME_PREFIX + - "." + DataSourceUtils.getDataSourceMaxVersionString() + "." + DataSourceUtils.getDataSourceMaxVersionString(38), + DataSourceUtils.DATA_SOURCES_BUCKET_PATH + + DataSourceUtils.DATA_SOURCES_NAME_PREFIX + + "." + DataSourceUtils.getDataSourceMaxVersionString(19) ); for (final String basePath : dataSourcesBasePaths) { for (final String useCaseModifier : Arrays.asList(DataSourceUtils.DS_SOMATIC_NAME_MODIFIER, DataSourceUtils.DS_GERMLINE_NAME_MODIFIER)) { diff --git a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/DbSnpIntegrationTest.java b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/DbSnpIntegrationTest.java index a35f84f4dcd..0c7fbf9936d 100644 --- a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/DbSnpIntegrationTest.java +++ b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/DbSnpIntegrationTest.java @@ -22,20 +22,20 @@ public class DbSnpIntegrationTest extends CommandLineProgramTest { private final Path DB_SNP_HG19_FILE_PATH = IOUtils.getPath( - FuncotatorDataSourceDownloader.SOMATIC_GCLOUD_DATASOURCES_BASEURL + "/" + FuncotatorDataSourceDownloader.HG19_SOMATIC_GCLOUD_DATASOURCES_BASEURL + "/" + "dbsnp/hg19/" + "hg19_All_20180423.vcf.gz" ); private final Path DB_SNP_HG19_INDEX_FILE_PATH = IOUtils.getPath( - FuncotatorDataSourceDownloader.SOMATIC_GCLOUD_DATASOURCES_BASEURL + "/" + FuncotatorDataSourceDownloader.HG19_SOMATIC_GCLOUD_DATASOURCES_BASEURL + "/" + "dbsnp/hg19/" + "hg19_All_20180423.vcf.gz.tbi" ); private final Path DB_SNP_HG38_FILE_PATH = IOUtils.getPath( - FuncotatorDataSourceDownloader.SOMATIC_GCLOUD_DATASOURCES_BASEURL + "/" + FuncotatorDataSourceDownloader.HG38_SOMATIC_GCLOUD_DATASOURCES_BASEURL + "/" + "dbsnp/hg38/" + "hg38_All_20180418.vcf.gz" ); private final Path DB_SNP_HG38_INDEX_FILE_PATH = IOUtils.getPath( - FuncotatorDataSourceDownloader.SOMATIC_GCLOUD_DATASOURCES_BASEURL + "/" + FuncotatorDataSourceDownloader.HG38_SOMATIC_GCLOUD_DATASOURCES_BASEURL + "/" + "dbsnp/hg38/" + "hg38_All_20180418.vcf.gz.tbi" ); diff --git a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/mafOutput/MafOutputRendererUnitTest.java b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/mafOutput/MafOutputRendererUnitTest.java index 30140b6e337..6f9bea3e279 100644 --- a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/mafOutput/MafOutputRendererUnitTest.java +++ b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/mafOutput/MafOutputRendererUnitTest.java @@ -1220,4 +1220,26 @@ public void testCreateMafCompliantOutputMapSanitized() { maf.getRecords().forEach(r -> Assert.assertTrue(r.hasAnnotation("FAKEDATA_BAZ"))); maf.getRecords().forEach(r -> Assert.assertEquals(r.getAnnotationValue("FAKEDATA_BAZ"), "_%09_YES_%0A_")); } + + @Test + // Asserting that we can write a MAF file with a version 43 GencodeFuncotation without error + public void testVersion43GencodeFuncotation() { + final File outFile = getSafeNonExistentFile("TestMafOutputSanitized.maf"); + final String dummyTranscriptName = "FAKE00001.1"; + final VariantContext dummyVariantContext = FuncotatorTestUtils.createSimpleVariantContext(FuncotatorReferenceTestUtils.retrieveHg19Chr3Ref(),"3", 1000000, 1000000, "C", "T"); + final GencodeFuncotation dummyGencodeFuncotation = (GencodeFuncotation) FuncotatorTestUtils.createDummyGencodeFuncotation(dummyTranscriptName, dummyVariantContext, "43"); + final Set excludedFields = Collections.emptySet(); + try ( final MafOutputRenderer mafOutputRenderer = createMafOutputRenderer( outFile, FuncotatorTestConstants.REFERENCE_VERSION_HG19, excludedFields) ) { + final FuncotationMap funcotationMap = FuncotationMap.createFromGencodeFuncotations(Collections.singletonList(dummyGencodeFuncotation)); + funcotationMap.add(dummyTranscriptName, FuncotatorTestUtils.createDummyTableFuncotation()); + mafOutputRenderer.write(dummyVariantContext, funcotationMap); + } + + final AnnotatedIntervalCollection maf = AnnotatedIntervalCollection.create(outFile.toPath(), null); + Assert.assertTrue(maf.getRecords().size() > 0); + maf.getRecords().forEach(r -> Assert.assertTrue(r.hasAnnotation("FAKEDATA_FOO"))); + maf.getRecords().forEach(r -> Assert.assertTrue(r.hasAnnotation("FAKEDATA_BAR"))); + maf.getRecords().forEach(r -> Assert.assertTrue(r.hasAnnotation("FAKEDATA_BAZ"))); + maf.getRecords().forEach(r -> Assert.assertEquals(r.getAnnotationValue("FAKEDATA_BAZ"), "_%09_YES_%0A_")); + } } diff --git a/src/test/java/org/broadinstitute/hellbender/utils/test/FuncotatorTestUtils.java b/src/test/java/org/broadinstitute/hellbender/utils/test/FuncotatorTestUtils.java index b97e2d27af8..b48c5274416 100644 --- a/src/test/java/org/broadinstitute/hellbender/utils/test/FuncotatorTestUtils.java +++ b/src/test/java/org/broadinstitute/hellbender/utils/test/FuncotatorTestUtils.java @@ -461,9 +461,10 @@ public static T assertRoundTripInKryo(final T input, final Class inputCla * * @param dummyTranscriptName An aritrary string. Never {@code null} * @param dummyVariantContext An aritrary {@link VariantContext}. Never {@code null} + * @param gencodeVersion Should be a valid gencode version. Never {@code null} * @return Never {@code null} */ - public static Funcotation createDummyGencodeFuncotation(final String dummyTranscriptName, final VariantContext dummyVariantContext) { + public static Funcotation createDummyGencodeFuncotation(final String dummyTranscriptName, final VariantContext dummyVariantContext, final String gencodeVersion) { Utils.nonNull(dummyTranscriptName); Utils.nonNull(dummyVariantContext); return createGencodeFuncotation("GENE","b37", dummyVariantContext.getContig(), dummyVariantContext.getStart(),dummyVariantContext.getEnd(), @@ -474,7 +475,10 @@ public static Funcotation createDummyGencodeFuncotation(final String dummyTransc 1, 1500, 1500, " ", " ", "p.L300P", 0.5, - "ACTGATCGATCGA",Collections.singletonList("FAKE00002.5"), "27"); + "ACTGATCGATCGA",Collections.singletonList("FAKE00002.5"), gencodeVersion); + } + public static Funcotation createDummyGencodeFuncotation(final String dummyTranscriptName, final VariantContext dummyVariantContext) { + return createDummyGencodeFuncotation(dummyTranscriptName, dummyVariantContext, "27"); } /** From 423d106612074aa3480b67b321dc66426b1c600a Mon Sep 17 00:00:00 2001 From: jamesemery Date: Wed, 11 Oct 2023 11:39:41 -0400 Subject: [PATCH 02/64] Fixed Funcotator VCF output renderer to correctly preserve B37 contig names on output for B37 aligned files (#8539) --- .../tools/funcotator/Funcotator.java | 7 +- .../tools/funcotator/FuncotatorEngine.java | 29 +- .../vcfOutput/VcfOutputRenderer.java | 3 +- .../custom_vc_expected_out.vcf | 4 +- .../hashSetOrderingIssue_expected.vcf | 2 +- .../regressionTestHg19Large_expected.vcf | 3014 ++++++++--------- .../regressionTestVariantSet1_expected.vcf | 396 +-- .../regressionTestVariantSet2_expected.vcf | 336 +- 8 files changed, 1911 insertions(+), 1880 deletions(-) diff --git a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/Funcotator.java b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/Funcotator.java index 74aec83c89e..12843950a48 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/Funcotator.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/Funcotator.java @@ -874,7 +874,6 @@ public void apply(final VariantContext variant, final ReadsContext readsContext, // Get the correct reference for B37/HG19 compliance: // This is necessary because of the variant transformation that gets applied in VariantWalkerBase::apply. final ReferenceContext correctReferenceContext = funcotatorEngine.getCorrectReferenceContext(variant, referenceContext); - // Place the variant on our queue to be funcotated: enqueueAndHandleVariant(variant, correctReferenceContext, featureContext); } @@ -924,7 +923,11 @@ protected void enqueueAndHandleVariant(final VariantContext variant, final Refer final FuncotationMap funcotationMap = funcotatorEngine.createFuncotationMapForVariant(variant, referenceContext, featureContext); + // This is necessary because we want to revert the variant contig name change if it was applied in the FuncotatorEngine::getCorrectVariantContextForReference method before outputting the vcf. + // NOTE: this will only revert the variantContext if it was originally changed (only for B37 VCFs) + final VariantContext variantContextForOutput = funcotatorEngine.getCorrectVariantContextForOutput(variant); + // At this point there is only one transcript ID in the funcotation map if canonical or best effect are selected - outputRenderer.write(variant, funcotationMap); + outputRenderer.write(variantContextForOutput, funcotationMap); } } diff --git a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorEngine.java b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorEngine.java index a82313adf84..c34b942b148 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorEngine.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorEngine.java @@ -79,6 +79,12 @@ public final class FuncotatorEngine implements AutoCloseable { */ private final boolean mustConvertInputContigsToHg19; + /** + * Whether the output variant contigs must be converted back to B37 from hg19 before being returned. + * (NOTE: this means that the output contigs will continue to use B37 contig names even if internally we converted them to hg19) + */ + private boolean mustRevertVariantContigsFromHg19ToB37 = false; + /** * Whether this {@link FuncotatorEngine} has only produced annotations on variants that have been labeled by the * {@link org.broadinstitute.hellbender.tools.funcotator.dataSources.gencode.GencodeFuncotationFactory} as {@link org.broadinstitute.hellbender.tools.funcotator.dataSources.gencode.GencodeFuncotation.VariantClassification#IGR}. @@ -327,6 +333,22 @@ private VariantContext getCorrectVariantContextForReference(final VariantContext } } + /** + * Create a new {@link VariantContext} which will match the given Reference if there is a mismatch for input between the B37 reference and the HG19 reference. + * @param variant A {@link VariantContext} object containing the variant to convert. + * @return A {@link VariantContext} whose contig has been transformed to HG19 if requested by the user. Otherwise, an identical variant. + */ + VariantContext getCorrectVariantContextForOutput(final VariantContext variant) { + if ( mustRevertVariantContigsFromHg19ToB37 ) { + final VariantContextBuilder vcb = new VariantContextBuilder(variant); + vcb.chr(FuncotatorUtils.convertHG19ContigToB37Contig(variant.getContig())); + return vcb.make(); + } + else { + return variant; + } + } + /** * @return The default {@link VariantTransformer} which will automatically convert from the B37 reference standard to the HG19 reference standard for contig names. */ @@ -483,7 +505,7 @@ private boolean determineReferenceAndDatasourceCompatibility() { } else if ( funcotatorArgs.referenceVersion.equals(BaseFuncotatorArgumentCollection.FuncotatorReferenceVersionHg19) && FuncotatorUtils.isSequenceDictionaryUsingB37Reference(sequenceDictionaryForDrivingVariants) ) { - logger.info("VCF sequence dictionary detected as B37 in HG19 annotation mode. Performing conversion."); + logger.info("VCF sequence dictionary detected as B37 in HG19 annotation mode. Performing conversion. (NOTE: the output VCF will still be B37)"); mustConvertInputContigsToHg19 = true; } else { @@ -505,6 +527,11 @@ else if ( funcotatorArgs.referenceVersion.equals(BaseFuncotatorArgumentCollectio "There MAY be some errors (e.g. in the Y chromosome, but possibly in other places as well) due to changes between the two references."); } + // Record whether we need to revert the contigs back to B37 after annotation: + if (FuncotatorUtils.isSequenceDictionaryUsingB37Reference(sequenceDictionaryForDrivingVariants) && mustConvertInputContigsToHg19) { + this.mustRevertVariantContigsFromHg19ToB37 = true; + } + return mustConvertInputContigsToHg19; } diff --git a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/vcfOutput/VcfOutputRenderer.java b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/vcfOutput/VcfOutputRenderer.java index 06efb116fb7..25cc4a4c804 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/vcfOutput/VcfOutputRenderer.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/vcfOutput/VcfOutputRenderer.java @@ -197,7 +197,8 @@ public void write(final VariantContext variant, final FuncotationMap txToFuncota variantContextOutputBuilder.genotypes( variant.getGenotypes() ); // Render and add our VCF line: - vcfWriter.add( variantContextOutputBuilder.make() ); + VariantContext out = variantContextOutputBuilder.make(); + vcfWriter.add( out ); } private Funcotation createManualAnnotationFuncotation(final Allele altAllele) { diff --git a/src/test/resources/large/funcotator/custom_vc_order_files/custom_vc_expected_out.vcf b/src/test/resources/large/funcotator/custom_vc_order_files/custom_vc_expected_out.vcf index c75fe336578..153974afb20 100644 --- a/src/test/resources/large/funcotator/custom_vc_order_files/custom_vc_expected_out.vcf +++ b/src/test/resources/large/funcotator/custom_vc_order_files/custom_vc_expected_out.vcf @@ -1,3 +1,3 @@ version https://git-lfs.github.com/spec/v1 -oid sha256:1d047664ab092210264fe8085fa67d5e76a73fe59413b6347eafc6cd5124f270 -size 21959 +oid sha256:ee6ff0466f5aa7015deee6dd0762d4606309f0323b66bd56fabdc9ed5d6f8b4c +size 21956 diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/hashSetOrderingIssue_expected.vcf b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/hashSetOrderingIssue_expected.vcf index 26f0a5ee680..efb164a8648 100644 --- a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/hashSetOrderingIssue_expected.vcf +++ b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/hashSetOrderingIssue_expected.vcf @@ -91,4 +91,4 @@ ##reference=/cromwell_root/broad-references/hg19/v0/Homo_sapiens_assembly19.fasta ##source=Funcotator #CHROM POS ID REF ALT QUAL FILTER INFO -chr2 70120909 rs3214822 GA G 722.12 PASS FUNCOTATION=[SNRNP27|hg19|chr2|70120910|70120910|FIVE_PRIME_UTR||DEL|A|A|-|g.chr2:70120910delA|ENST00000244227.3|+|1|||||0.43640897755610975|GGGAAAAATGAAAGCTGTGTT|SNRNP27_ENST00000409116.1_FIVE_PRIME_FLANK/SNRNP27_ENST00000488986.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X76302|NM_006857.2|NP_006848.1|HGNC:30240|small_%20_nuclear_%20_ribonucleoprotein_%20_U4/U6.U5_%20_subunit_%20_27|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"small_%20_nuclear_%20_ribonucleoprotein_%20_27kDa_%20_(U4/U6.U5)"_%2C__%20_"small_%20_nuclear_%20_ribonucleoprotein_%2C__%20_U4/U6.U5_%20_27kDa_%20_subunit"|RY1_%2C__%20_U4/U6.U5-27K|"nucleic_%20_acid_%20_binding_%20_protein_%20_RY_%20_1"_%2C__%20_"U4/U6.U5_%20_small_%20_nuclear_%20_ribonucleoprotein_%20_27_%20_kDa_%20_protein"|2p13.3|2016-10-05||2016-03-11|X76302||11017|ENSG00000124380|7931148_%2C__%20_9085842|NM_006857|||CCDS33219|OTTHUMG00000152689|11017||NM_006857|Q8WVK2|ENSG00000124380|uc002sfw.4|SNR27_HUMAN||Q15410|Q8WVK2|mRNA_%20_processing_%20_(GO:0006397)_%7C_RNA_%20_splicing_%20_(GO:0008380)|nucleus_%20_(GO:0005634)|nucleic_%20_acid_%20_binding_%20_(GO:0003676)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.6222_%2C_0.3778_%7C_0.6222_%2C_0.3778|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|SNRNP27:11017_%7C_SNRNP27:11017|true_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_true|false_%7C_false|3214822_%7C_397747233|70120910_%7C_70120912|false_%7C_false|false_%7C_false|0_%7C_0|true_%7C_true|0_%7C_0|false_%7C_false|0.661217_%2C_0.338783_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05010002000517013e000200_%7C_0x050100020005000002000200|1_%7C_1|false_%7C_false|134_%7C_138|rs3214822_%7C_rs397747233|_%7C_] +2 70120909 rs3214822 GA G 722.12 PASS FUNCOTATION=[SNRNP27|hg19|chr2|70120910|70120910|FIVE_PRIME_UTR||DEL|A|A|-|g.chr2:70120910delA|ENST00000244227.3|+|1|||||0.43640897755610975|GGGAAAAATGAAAGCTGTGTT|SNRNP27_ENST00000409116.1_FIVE_PRIME_FLANK/SNRNP27_ENST00000488986.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X76302|NM_006857.2|NP_006848.1|HGNC:30240|small_%20_nuclear_%20_ribonucleoprotein_%20_U4/U6.U5_%20_subunit_%20_27|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"small_%20_nuclear_%20_ribonucleoprotein_%20_27kDa_%20_(U4/U6.U5)"_%2C__%20_"small_%20_nuclear_%20_ribonucleoprotein_%2C__%20_U4/U6.U5_%20_27kDa_%20_subunit"|RY1_%2C__%20_U4/U6.U5-27K|"nucleic_%20_acid_%20_binding_%20_protein_%20_RY_%20_1"_%2C__%20_"U4/U6.U5_%20_small_%20_nuclear_%20_ribonucleoprotein_%20_27_%20_kDa_%20_protein"|2p13.3|2016-10-05||2016-03-11|X76302||11017|ENSG00000124380|7931148_%2C__%20_9085842|NM_006857|||CCDS33219|OTTHUMG00000152689|11017||NM_006857|Q8WVK2|ENSG00000124380|uc002sfw.4|SNR27_HUMAN||Q15410|Q8WVK2|mRNA_%20_processing_%20_(GO:0006397)_%7C_RNA_%20_splicing_%20_(GO:0008380)|nucleus_%20_(GO:0005634)|nucleic_%20_acid_%20_binding_%20_(GO:0003676)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.6222_%2C_0.3778_%7C_0.6222_%2C_0.3778|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|SNRNP27:11017_%7C_SNRNP27:11017|true_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_true|false_%7C_false|3214822_%7C_397747233|70120910_%7C_70120912|false_%7C_false|false_%7C_false|0_%7C_0|true_%7C_true|0_%7C_0|false_%7C_false|0.661217_%2C_0.338783_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05010002000517013e000200_%7C_0x050100020005000002000200|1_%7C_1|false_%7C_false|134_%7C_138|rs3214822_%7C_rs397747233|_%7C_] diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large_expected.vcf b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large_expected.vcf index 39c5ce4d1a6..cb05594847a 100644 --- a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large_expected.vcf +++ b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large_expected.vcf @@ -197,1510 +197,1510 @@ ##zcallThresholds=thresholds.7.txt ##zcallVersion=1.0.0.0 #CHROM POS ID REF ALT QUAL FILTER INFO -chr1 752566 rs3094315 G A . PASS FUNCOTATION=[RP11-206L10.10|hg19|chr1|752566|752566|RNA||SNP|G|G|A|g.chr1:752566G>A|ENST00000435300.1|-|||c.e1-187C>T|||0.3690773067331671|CAAGAGAAACGTTTGACAGAG|FAM87B_ENST00000326734.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2817_%2C_0.7183|false|false|1||false|true|false|FAM87B:400728|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|true|false|3094315|752566|true|false|0|true|0|false|0.351947_%2C_0.648053|false|false|false|SNV|true|0x05012802000515053f000101|1|false|103|rs3094315|] -chr1 752721 rs3131972 A G . PASS FUNCOTATION=[RP11-206L10.10|hg19|chr1|752721|752721|RNA||SNP|A|A|G|g.chr1:752721A>G|ENST00000435300.1|-|||c.e1-32T>C|||0.486284289276808|AGAAAGGAAAAGGGAAGAATG|FAM87B_ENST00000326734.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3466_%2C_0.6534|false|false|1||false|true|true|FAM87B:400728|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3131972|752721|true|false|0|true|0|false|0.393296_%2C_0.606704|false|false|false|SNV|true|0x05010002000517053f000100|1|false|103|rs3131972|] -chr1 762320 exm2268640 C T . PASS FUNCOTATION=[LINC00115|hg19|chr1|762320|762320|LINCRNA||SNP|C|C|T|g.chr1:762320C>T|ENST00000473798.1|-|||c.e1-582G>A|||0.6084788029925187|ACCCAACAGTCACCGCTAGTG|RP11-206L10.11_ENST00000445118.2_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||HGNC:26211|long_%20_intergenic_%20_non-protein_%20_coding_%20_RNA_%20_115|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|NCRNA00115|"non-protein_%20_coding_%20_RNA_%20_115"|FLJ22639||1p36.33|2014-11-18|2011-08-11|2011-08-11|BC017762||79854|ENSG00000225880|12477932|XR_017693||||OTTHUMG00000141258|79854||NR_024321||ENSG00000225880|uc010nxx.3|||||||||||true|false|0.9305_%2C_0.06949|false|false|1||false|true|false|LINC01128:643837_%7C_LINC00115:79854|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|75333668|762320|false|false|0|true|0|false||false|false|false|SNV|true|0x050100020005150436000100|1|false|131|rs75333668|] -chr1 798959 rs11240777 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|798959|798959|IGR||SNP|G|G|A|g.chr1:798959G>A|no_transcript|||||||0.4089775561097257|TGGGCTTTAAGGTATGACTAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 838555 rs4970383 C A . PASS FUNCOTATION=[RP11-54O7.16|hg19|chr1|838555|838555|FIVE_PRIME_FLANK||SNP|C|C|A|g.chr1:838555C>A|ENST00000607769.1|+||||||0.5511221945137157|GACCCCATTTCACCTTAATCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 846808 rs4475691 C T . PASS FUNCOTATION=[RP11-54O7.16|hg19|chr1|846808|846808|LINCRNA||SNP|C|C|T|g.chr1:846808C>T|ENST00000607769.1|+|||c.e2-4322C>T|||0.6059850374064838|TGGTGAGCTGCGCCTTTGTGC|RP11-54O7.2_ENST00000398216.2_FIVE_PRIME_FLANK/RP11-54O7.1_ENST00000448179.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7452_%2C_0.2548|false|false|1||false|true|true|LOC284600:284600|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|4475691|846808|false|false|0|true|0|false|0.725634_%2C_0.274366|false|false|false|SNV|true|0x05010002000517053e000100|1|false|111|rs4475691|] -chr1 861349 exm41 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|861349|861349|MISSENSE||SNP|C|C|T|g.chr1:861349C>T|ENST00000342066.3|+|2|111|c.28C>T|c.(28-30)Cct>Tct|p.P10S|0.6533665835411472|GCAGGTGCATCCTCCGATCTG|AL645608.1_ENST00000598827.1_MISSENSE_p.G84E|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200686669|861349|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs200686669|] -chr1 861808 rs13302982 A G . PASS FUNCOTATION=[SAMD11|hg19|chr1|861808|861808|INTRON||SNP|A|A|G|g.chr1:861808A>G|ENST00000342066.3|+|||c.e2+415A>G|||0.6134663341645885|GGACGACAGCATTTTGGGGAG|AL645608.1_ENST00000598827.1_INTRON|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.3177_%2C_0.6823|false|false|1||false|true|false|SAMD11:148398|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|13302982|861808|false|false|0|true|0|false|0.289649_%2C_0.710351|false|false|false|SNV|true|0x05010008000515053f000100|1|false|121|rs13302982|] -chr1 865545 exm1916089 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865545|865545|MISSENSE||SNP|G|G|A|g.chr1:865545G>A|ENST00000342066.3|+|3|166|c.83G>A|c.(82-84)cGg>cAg|p.R28Q|0.6683291770573566|AACCGGGGGCGGCTGGCAGAC|AL645608.1_ENST00000598827.1_INTRON|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9972_%2C_0.002796|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201186828|865545|false|false|0|false|0|false|0.997012_%2C_0.00298784|false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs201186828|] -chr1 865584 exm44 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865584|865584|MISSENSE||SNP|G|G|A|g.chr1:865584G>A|ENST00000342066.3|+|3|205|c.122G>A|c.(121-123)cGg>cAg|p.R41Q|0.6683291770573566|CCTGCCGCCCGGAACCTGAAG|AL645608.1_ENST00000598827.1_MISSENSE_p.P53L|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.989_%2C_0.01098|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|148711625|865584|false|false|0|true|0|false|0.986984_%2C_0.013016|false|false|false|SNV|true|0x050100000a05140436000100|1|false|134|rs148711625|] -chr1 865625 exm46 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865625|865625|MISSENSE||SNP|G|G|A|g.chr1:865625G>A|ENST00000342066.3|+|3|246|c.163G>A|c.(163-165)Gat>Aat|p.D55N|0.6583541147132169|CTCTGCCAGCGATGGTGACAG|AL645608.1_ENST00000598827.1_SILENT_p.I39I|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9986_%2C_0.001398|false|false|1||false|false|false|SAMD11:148398|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146327803|865625|false|false|0|false|0|false|0.99763_%2C_0.00236967|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs146327803|] -chr1 865628 exm47 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865628|865628|MISSENSE||SNP|G|G|A|g.chr1:865628G>A|ENST00000342066.3|+|3|249|c.166G>A|c.(166-168)Ggt>Agt|p.G56S|0.655860349127182|TGCCAGCGATGGTGACAGCGA|AL645608.1_ENST00000598827.1_SILENT_p.T38T|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9972_%2C_0.002796|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|41285790|865628|false|false|0|true|0|false|0.996909_%2C_0.00309087|false|false|false|SNV|true|0x050100000a05040436000100|1|false|127|rs41285790|] -chr1 865662 exm51 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865662|865662|MISSENSE||SNP|G|G|A|g.chr1:865662G>A|ENST00000342066.3|+|3|283|c.200G>A|c.(199-201)cGg>cAg|p.R67Q|0.6433915211970075|ACCTGTGGGCGGCGGCCAGGC|AL645608.1_ENST00000598827.1_SPLICE_SITE|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9992_%2C_0.0007987|false|false|0||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|140751899|865662|false|false|0|false|0|false|0.997836_%2C_0.00216361|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs140751899|] -chr1 865665 exm53 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865665|865665|MISSENSE||SNP|G|G|A|g.chr1:865665G>A|ENST00000342066.3|+|3|286|c.203G>A|c.(202-204)cGg>cAg|p.R68Q|0.6408977556109726|TGTGGGCGGCGGCCAGGCTTG|AL645608.1_ENST00000598827.1_SPLICE_SITE|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|145442390|865665|false|false|0|false|0|false|0.999141_%2C_0.000858575|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs145442390|] -chr1 865694 exm55 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|865694|865694|MISSENSE||SNP|C|C|T|g.chr1:865694C>T|ENST00000342066.3|+|3|315|c.232C>T|c.(232-234)Cac>Tac|p.H78Y|0.6359102244389028|GGATGGTCCGCACATCCGTAT|AL645608.1_ENST00000598827.1_MISSENSE_p.C18Y|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9475_%2C_0.05252|false|false|1||false|true|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|9988179|865694|false|false|0|true|0|false|0.976441_%2C_0.0235593|false|false|false|SNV|true|0x050100000a05150436000100|1|false|119|rs9988179|] -chr1 865700 exm56 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|865700|865700|MISSENSE||SNP|C|C|T|g.chr1:865700C>T|ENST00000342066.3|+|3|321|c.238C>T|c.(238-240)Cgt>Tgt|p.R80C|0.6384039900249376|TCCGCACATCCGTATCATGAA|AL645608.1_ENST00000598827.1_MISSENSE_p.R16Q|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|116730894|865700|false|false|0|true|0|false|0.997802_%2C_0.00219795|false|false|false|SNV|true|0x050100000a05040436000100|1|false|132|rs116730894|] -chr1 866429 exm60 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|866429|866429|MISSENSE||SNP|C|C|T|g.chr1:866429C>T|ENST00000342066.3|+|4|348|c.265C>T|c.(265-267)Cac>Tac|p.H89Y|0.6384039900249376|AGTCCACACCCACTGGGACGT|AL645608.1_ENST00000598827.1_NONSENSE_p.W6*|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144317111|866429|false|false|0|false|0|false|0.999691_%2C_0.000309108|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs144317111|] -chr1 866438 exm63 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|866438|866438|MISSENSE||SNP|G|G|A|g.chr1:866438G>A|ENST00000342066.3|+|4|357|c.274G>A|c.(274-276)Gtg>Atg|p.V92M|0.6408977556109726|CCACTGGGACGTGAACATCTC|AL645608.1_ENST00000598827.1_MISSENSE_p.T3M|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|SAMD11:148398|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144010167|866438|false|false|0|false|0|false|0.99976_%2C_0.000240418|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs144010167|] -chr1 871159 exm67 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|871159|871159|MISSENSE||SNP|G|G|A|g.chr1:871159G>A|ENST00000342066.3|+|5|396|c.313G>A|c.(313-315)Ggc>Agc|p.G105S|0.6683291770573566|CAGCCAGGACGGCAACCTTCC|AL645608.1_ENST00000598827.1_FIVE_PRIME_FLANK/SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|SAMD11:148398|false|false|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|143282473|871159|false|false|0|false|0|false|0.999691_%2C_0.000309087|false|false|false|SNV|true|0x050000000a05040036000100|1|false|134|rs143282473|] -chr1 871213 exm74 C G . PASS FUNCOTATION=[SAMD11|hg19|chr1|871213|871213|MISSENSE||SNP|C|C|G|g.chr1:871213C>G|ENST00000342066.3|+|5|450|c.367C>G|c.(367-369)Ccc>Gcc|p.P123A|0.6783042394014963|CCTCGTTATGCCCGAGCATCA|AL645608.1_ENST00000598827.1_FIVE_PRIME_FLANK/SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144490434|871213|false|false|0|false|0|false|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs144490434|] -chr1 871228 exm76 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|871228|871228|MISSENSE||SNP|C|C|T|g.chr1:871228C>T|ENST00000342066.3|+|5|465|c.382C>T|c.(382-384)Cgc>Tgc|p.R128C|0.6608478802992519|GCATCAGAGCCGCTGTGAATT|AL645608.1_ENST00000598827.1_FIVE_PRIME_FLANK/SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|142210309|871228|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs142210309|] -chr1 871276 exm85 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|871276|871276|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:871276G>A|ENST00000342066.3|+|5|513|c.430G>A|c.(430-432)Ggt>Agt|p.G144S|0.6758104738154613|GCGACCCGCCGGTGAGGAGCA|AL645608.1_ENST00000598827.1_FIVE_PRIME_FLANK/SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146347471|871276|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs146347471|] -chr1 871276 exm85 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|871276|871276|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:871276G>A|ENST00000342066.3|+|5|513|c.430G>A|c.(430-432)Ggt>Agt|p.G144S|0.6758104738154613|GCGACCCGCCGGTGAGGAGCA|AL645608.1_ENST00000598827.1_FIVE_PRIME_FLANK/SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146347471|871276|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs146347471|] -chr1 874456 exm88 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|874456|874456|MISSENSE||SNP|G|G|A|g.chr1:874456G>A|ENST00000342066.3|+|6|550|c.467G>A|c.(466-468)cGt>cAt|p.R156H|0.6533665835411472|CGCTCCCCCCGTATCAGCAGC|SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.999_%2C_0.0009984_%2C_._%2C_.|false|false|0||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149677938|874456|false|false|0|false|0|false|0.998626_%2C_0.00127069_%2C_0.000103029_%2C_.|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs149677938|] -chr1 874501 exm94 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|874501|874501|MISSENSE||SNP|C|C|T|g.chr1:874501C>T|ENST00000342066.3|+|6|595|c.512C>T|c.(511-513)tCg>tTg|p.S171L|0.6658354114713217|CGAAGCGAATCGCCTCAAGGT|SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199625867|874501|false|false|0|false|0|false|0.999725_%2C_0.000274744|false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs199625867|] -chr1 874673 exm101 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|874673|874673|MISSENSE||SNP|G|G|A|g.chr1:874673G>A|ENST00000342066.3|+|7|622|c.539G>A|c.(538-540)cGg>cAg|p.R180Q|0.6633416458852868|CTGCTGCCGCGGGAGCTGGGG|SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|112419559|874673|false|false|0|true|0|false|0.999554_%2C_0.000446459|false|false|false|SNV|true|0x050100000a05040502000100|1|false|132|rs112419559|] -chr1 874714 exm104 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|874714|874714|MISSENSE||SNP|C|C|T|g.chr1:874714C>T|ENST00000342066.3|+|7|663|c.580C>T|c.(580-582)Cgg>Tgg|p.R194W|0.6733167082294265|CCATTACCGCCGGCTTGTGTC|SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9992_%2C_0.0007987|false|false|0||false|false|false|SAMD11:148398|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201596485|874714|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs201596485|] -chr1 874762 exm106 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|874762|874762|MISSENSE||SNP|C|C|T|g.chr1:874762C>T|ENST00000342066.3|+|7|711|c.628C>T|c.(628-630)Cgc>Tgc|p.R210C|0.6683291770573566|GGACCCTCAGCGCCTCTACCA|SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9984_%2C_0.001597|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|139437968|874762|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs139437968|] -chr1 877556 exm116 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|877556|877556|MISSENSE||SNP|G|G|A|g.chr1:877556G>A|ENST00000342066.3|+|9|993|c.910G>A|c.(910-912)Gcc>Acc|p.A304T|0.7605985037406484|GCCGCAGAATGCCCCTCACGT||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201313326|877556|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000080a05040402000100|1|false|137|rs201313326|] -chr1 878250 exm2233917 A G . PASS FUNCOTATION=[SAMD11|hg19|chr1|878250|878250|MISSENSE||SNP|A|A|G|g.chr1:878250A>G|ENST00000342066.3|+|11|1459|c.1376A>G|c.(1375-1377)gAt>gGt|p.D459G|0.7406483790523691|TGGGCACAAGATGGCTCGGAA||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9998_%2C_._%2C_0.0001997|false|false|0||false|false|false|SAMD11:148398|false|true|true|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|552457744|878250|false|false|0|false|0|false|0.999931_%2C_._%2C_6.8686e-005|false|false|false|SNV|true|0x050000080a05040426000100|1|false|142|rs552457744|] -chr1 878423 exm145 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|878423|878423|MISSENSE||SNP|C|C|T|g.chr1:878423C>T|ENST00000342066.3|+|11|1632|c.1549C>T|c.(1549-1551)Ccc>Tcc|p.P517S|0.6583541147132169|TGCCGTCAGCCCCTACTTCCA||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|SAMD11:148398|false|true|true|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201075481|878423|false|false|0|false|0|false|0.999588_%2C_0.000412116|false|false|false|SNV|true|0x050000080a05040426000100|1|false|137|rs201075481|] -chr1 878697 exm151 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|878697|878697|NONSENSE||SNP|G|G|A|g.chr1:878697G>A|ENST00000342066.3|+|12|1712|c.1629G>A|c.(1627-1629)tgG>tgA|p.W543*|0.6458852867830424|TCACCAAGTGGACCGTGGATG||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|147226614|878697|false|true|0|false|0|false||false|false|false|SNV|true|0x050200080605040402000100|1|false|134|rs147226614|] -chr1 878744 exm158 G C . PASS FUNCOTATION=[SAMD11|hg19|chr1|878744|878744|MISSENSE||SNP|G|G|C|g.chr1:878744G>C|ENST00000342066.3|+|12|1759|c.1676G>C|c.(1675-1677)gGa>gCa|p.G559A|0.6159600997506235|TCTGGCTGTGGAGAGTACACT||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9968_%2C_0.003195|false|false|1||false|false|false|SAMD11:148398|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|138897766|878744|false|true|0|false|0|false|0.998867_%2C_0.00113332|false|false|false|SNV|true|0x050200080a05040436000100|1|false|134|rs138897766|] -chr1 879297 exm174 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|879297|879297|MISSENSE||SNP|C|C|T|g.chr1:879297C>T|ENST00000342066.3|+|14|1893|c.1810C>T|c.(1810-1812)Cgc>Tgc|p.R604C|0.6658354114713217|GGTGGCCAGGCGCCTGGGCCG||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398_%7C_NOC2L:26155|false|true|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|false|true|140566193|879297|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x0500000c0a05040402000100|1|false|134|rs140566193|] -chr1 879364 exm1917884 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|879364|879364|MISSENSE||SNP|G|G|A|g.chr1:879364G>A|ENST00000342066.3|+|14|1960|c.1877G>A|c.(1876-1878)cGg>cAg|p.R626Q|0.6733167082294265|CCAACCCTGCGGGCCCCGGAG||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|SAMD11:148398_%7C_NOC2L:26155|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|true|false|true|201551514|879364|false|false|0|false|0|true|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x0500000c0b05040436000100|1|false|137|rs201551514|] -chr1 879381 exm192 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|879381|879381|MISSENSE||SNP|C|C|T|g.chr1:879381C>T|ENST00000342066.3|+|14|1977|c.1894C>T|c.(1894-1896)Ctc>Ttc|p.L632F|0.6683291770573566|GGAGCGAGAACTCGGCACAGG||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9922_%2C_0.007788|false|false|1||false|false|false|SAMD11:148398_%7C_NOC2L:26155|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|true|false|true|116362966|879381|false|false|0|true|0|false|0.992685_%2C_0.00731506|false|false|false|SNV|true|0x0501000c0a0504043e000100|1|false|132|rs116362966|] -chr1 879439 exm2275405 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|879439|879439|MISSENSE||SNP|G|G|A|g.chr1:879439G>A|ENST00000342066.3|+|14|2035|c.1952G>A|c.(1951-1953)gGc>gAc|p.G651D|0.6433915211970075|TATGGAGGGGGCCACGCCCTT||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398_%7C_NOC2L:26155|false|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|true|false|true|150064100|879439|false|false|0|false|0|true||false|false|false|SNV|true|0x0500000c0b05040416000100|1|false|134|rs150064100|] -chr1 879481 exm210 G C . PASS FUNCOTATION=[SAMD11|hg19|chr1|879481|879481|MISSENSE||SNP|G|G|C|g.chr1:879481G>C|ENST00000342066.3|+|14|2077|c.1994G>C|c.(1993-1995)gGg>gCg|p.G665A|0.5985037406483791|CAGGAGAATGGGACCTTGGCT||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9802_%2C_0.01977|false|false|1||false|true|false|SAMD11:148398_%7C_NOC2L:26155|true|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|true|false|true|113383096|879481|false|false|0|true|0|false|0.966619_%2C_0.0333814|false|false|false|SNV|true|0x0501000c0a05150536000100|1|false|132|rs113383096|] -chr1 880160 exm222 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|880160|880160|MISSENSE||SNP|C|C|T|g.chr1:880160C>T|ENST00000327044.6|-|19|2214|c.2164G>A|c.(2164-2166)Gcg>Acg|p.A722T|0.6034912718204489|GCCAGCCCCGCCTCTGCGTCT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|SAMD11:148398_%7C_NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|false|true|200633429|880160|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000040a05040402000100|1|false|137|rs200633429|] -chr1 880167 exm2253572 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|880167|880167|SILENT||SNP|G|G|A|g.chr1:880167G>A|ENST00000327044.6|-|19|2207|c.2157C>T|c.(2155-2157)gaC>gaT|p.D719D|0.6134663341645885|CCGCCTCTGCGTCTGGGTCTC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|SAMD11:148398_%7C_NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|201894720|880167|false|false|0|false|0|true||false|false|false|SNV|true|0x050000040305040402000100|1|false|137|rs201894720|] -chr1 880466 exm233 T C . PASS FUNCOTATION=[NOC2L|hg19|chr1|880466|880466|MISSENSE||SNP|T|T|C|g.chr1:880466T>C|ENST00000327044.6|-|18|2164|c.2114A>G|c.(2113-2115)gAg>gGg|p.E705G|0.6259351620947631|CTCCTCGCCCTCCTCCTCGTC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9954_%2C_0.004593|false|false|1||false|false|false|NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|138652036|880466|false|false|0|false|0|false|0.999897_%2C_0.000103029|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs138652036|] -chr1 880502 exm241 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|880502|880502|MISSENSE||SNP|C|C|T|g.chr1:880502C>T|ENST00000327044.6|-|18|2128|c.2078G>A|c.(2077-2079)cGg>cAg|p.R693Q|0.6408977556109726|CACCCCATGCCGAGTGCTCAG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|74047418|880502|false|false|0|true|0|false|0.999038_%2C_0.000961605|false|false|false|SNV|true|0x050100000a05040536000100|1|false|130|rs74047418|] -chr1 880922 exm246 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|880922|880922|MISSENSE||SNP|C|C|T|g.chr1:880922C>T|ENST00000327044.6|-|17|2079|c.2029G>A|c.(2029-2031)Gac>Aac|p.D677N|0.6184538653366584|CCCTCGGTGTCGTCCTCTTCA||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9998_%2C_._%2C_._%2C_0.0001997|false|false|0||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|true|false|true|false|false|false|false|false|false|false|true|187444884|880922|false|false|0|false|0|false|0.999897_%2C_._%2C_._%2C_0.000103029|false|false|false|SNV|true|0x050000000a05040436000104|1|false|135|rs187444884|] -chr1 880942 exm248 A G . PASS FUNCOTATION=[NOC2L|hg19|chr1|880942|880942|MISSENSE||SNP|A|A|G|g.chr1:880942A>G|ENST00000327044.6|-|17|2059|c.2009T>C|c.(2008-2010)cTg>cCg|p.L670P|0.6184538653366584|AGAGCTGTTCAGGTCAAAGAG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9986_%2C_0.001398|false|false|1||false|false|false|NOC2L:26155|true|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|112163984|880942|false|false|0|true|0|false|0.999416_%2C_0.000583831|false|false|false|SNV|true|0x050100000a05040526000100|1|false|132|rs112163984|] -chr1 880943 exm249 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|880943|880943|SILENT||SNP|G|G|A|g.chr1:880943G>A|ENST00000327044.6|-|17|2058|c.2008C>T|c.(2008-2010)Ctg>Ttg|p.L670L|0.6159600997506235|GAGCTGTTCAGGTCAAAGAGG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9988_%2C_0.001198_%2C_.|false|false|1||false|false|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|113650656|880943|false|false|0|true|0|true|0.998489_%2C_0.00144241_%2C_6.8686e-005|false|false|false|SNV|true|0x050100000b05040536000100|1|false|132|rs113650656|] -chr1 881554 exm255 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|881554|881554|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:881554C>T|ENST00000327044.6|-|16|1966|c.1916G>A|c.(1915-1917)cGg>cAg|p.R639Q|0.628428927680798|GAGCCGCACCCGCTCTTTGCC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147322750|881554|false|false|0|false|0|false|0.999725_%2C_0.000274744|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs147322750|] -chr1 881554 exm255 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|881554|881554|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:881554C>T|ENST00000327044.6|-|16|1966|c.1916G>A|c.(1915-1917)cGg>cAg|p.R639Q|0.628428927680798|GAGCCGCACCCGCTCTTTGCC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147322750|881554|false|false|0|false|0|false|0.999725_%2C_0.000274744|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs147322750|] -chr1 881627 exm2253575 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|881627|881627|SILENT||SNP|G|G|A|g.chr1:881627G>A|ENST00000327044.6|-|16|1893|c.1843C>T|c.(1843-1845)Ctg>Ttg|p.L615L|0.6408977556109726|TACAAGGTCAGGGGTGTCCCC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.5581_%2C_0.4419|false|false|1||false|true|true|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|2272757|881627|true|false|0|true|0|true|0.601312_%2C_0.398688|false|false|false|SNV|true|0x050100000305170536000100|1|false|100|rs2272757|] -chr1 881784 exm2233921 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|881784|881784|MISSENSE||SNP|C|C|T|g.chr1:881784C>T|ENST00000327044.6|-|15|1851|c.1801G>A|c.(1801-1803)Gtg>Atg|p.V601M|0.6408977556109726|CCACTAACCACTGCCTGCTGC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199697037|881784|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs199697037|] -chr1 881825 exm1917942 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|881825|881825|MISSENSE||SNP|C|C|T|g.chr1:881825C>T|ENST00000327044.6|-|15|1810|c.1760G>A|c.(1759-1761)cGc>cAc|p.R587H|0.6433915211970075|CCTCTGGCGGCGGCTGCAGAT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|143216532|881825|false|false|0|false|0|false|0.99976_%2C_0.000240401|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs143216532|] -chr1 881894 exm268 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|881894|881894|MISSENSE||SNP|G|G|A|g.chr1:881894G>A|ENST00000327044.6|-|15|1741|c.1691C>T|c.(1690-1692)gCc>gTc|p.A564V|0.6334164588528678|GCAGTAGTTGGCCACCTTGCA||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200220074|881894|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs200220074|] -chr1 881918 exm269 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|881918|881918|MISSENSE||SNP|G|G|A|g.chr1:881918G>A|ENST00000327044.6|-|15|1717|c.1667C>T|c.(1666-1668)tCg>tTg|p.S556L|0.6309226932668329|CCGGAGGAACGACTTCAGCTG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9706_%2C_0.02935|false|false|1||false|true|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|35471880|881918|true|false|0|true|0|false|0.961605_%2C_0.0383955|false|false|false|SNV|true|0x050100000a05150536000100|1|false|126|rs35471880|] -chr1 883899 exm284 T G . PASS FUNCOTATION=[NOC2L|hg19|chr1|883899|883899|MISSENSE||SNP|T|T|G|g.chr1:883899T>G|ENST00000327044.6|-|13|1578|c.1528A>C|c.(1528-1530)Aat>Cat|p.N510H|0.6508728179551122|AGGTTGACATTGGACAGCTTC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|72631890|883899|false|false|0|false|0|false|0.999794_%2C_0.000206058|false|false|false|SNV|true|0x050000000a05040436000100|1|false|131|rs72631890|] -chr1 883947 exm289 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|883947|883947|MISSENSE||SNP|G|G|A|g.chr1:883947G>A|ENST00000327044.6|-|13|1530|c.1480C>T|c.(1480-1482)Cgc>Tgc|p.R494C|0.6384039900249376|GAGCTCATGCGCCCTGGCTTC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199834703|883947|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs199834703|] -chr1 887521 variant.16 T C . PASS FUNCOTATION=[NOC2L|hg19|chr1|887521|887521|SPLICE_SITE|INTRON|SNP|T|T|C|g.chr1:887521T>C|ENST00000327044.6|-|||c.e11+2A>G|c.e11-2||0.6059850374064838|GTATGTTTCCTGGTCAGAGAG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|true||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|377598297|887521|false|false|0|false|0|false||false|false|false|SNV|false|0x050000200005000402000100|1|false|138|rs377598297|] -chr1 887521 variant.16 T C . PASS FUNCOTATION=[NOC2L|hg19|chr1|887521|887521|SPLICE_SITE|INTRON|SNP|T|T|C|g.chr1:887521T>C|ENST00000327044.6|-|||c.e11+2A>G|c.e11-2||0.6059850374064838|GTATGTTTCCTGGTCAGAGAG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|true||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|377598297|887521|false|false|0|false|0|false||false|false|false|SNV|false|0x050000200005000402000100|1|false|138|rs377598297|] -chr1 887799 exm314 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|887799|887799|MISSENSE||SNP|C|C|T|g.chr1:887799C>T|ENST00000327044.6|-|10|1234|c.1184G>A|c.(1183-1185)cGc>cAc|p.R395H|0.6309226932668329|CACCTTCTTGCGAGTGGTCAT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9992_%2C_._%2C_0.0007987|false|false|0||false|false|false|NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|141541533|887799|false|false|0|false|0|false|0.998558_%2C_._%2C_0.00144241|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs141541533|] -chr1 887812 exm1918034 C A . PASS FUNCOTATION=[NOC2L|hg19|chr1|887812|887812|MISSENSE||SNP|C|C|A|g.chr1:887812C>A|ENST00000327044.6|-|10|1221|c.1171G>T|c.(1171-1173)Gcc>Tcc|p.A391S|0.6433915211970075|GTGGTCATGGCGTTGCGCAGG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|142181102|887812|false|false|0|false|0|false|0.999966_%2C_3.4343e-005_%2C_.|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs142181102|] -chr1 887874 exm323 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|887874|887874|MISSENSE||SNP|G|G|A|g.chr1:887874G>A|ENST00000327044.6|-|10|1159|c.1109C>T|c.(1108-1110)cCg>cTg|p.P370L|0.6483790523690773|GGCCACACCCGGCTCCAGGGC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200380211|887874|false|false|0|false|0|false|0.999073_%2C_0.000927261|false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs200380211|] -chr1 887967 exm328 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|887967|887967|MISSENSE||SNP|G|G|A|g.chr1:887967G>A|ENST00000327044.6|-|10|1066|c.1016C>T|c.(1015-1017)aCg>aTg|p.T339M|0.6384039900249376|CCTCACATACGTGATGTACAT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199569261|887967|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs199569261|] -chr1 888563 exm332 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|888563|888563|MISSENSE||SNP|C|C|T|g.chr1:888563C>T|ENST00000327044.6|-|9|1044|c.994G>A|c.(994-996)Gtc>Atc|p.V332I|0.6309226932668329|ACCTTGAGGACGGGGCCAAGG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|150127608|888563|false|false|0|false|0|false|0.99739_%2C_0.00261007|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs150127608|] -chr1 888659 exm340 T C . PASS FUNCOTATION=[NOC2L|hg19|chr1|888659|888659|MISSENSE||SNP|T|T|C|g.chr1:888659T>C|ENST00000327044.6|-|9|948|c.898A>G|c.(898-900)Atc>Gtc|p.I300V|0.6084788029925187|CTCCATACGATCACCATTCTC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.07728_%2C_0.9227|false|false|1||false|true|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|3748597|888659|false|false|0|true|0|false|0.0672093_%2C_0.932791|false|false|false|SNV|true|0x050100000a0515053f000100|1|false|107|rs3748597|] -chr1 889238 exm348 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|889238|889238|MISSENSE||SNP|G|G|A|g.chr1:889238G>A|ENST00000327044.6|-|8|862|c.812C>T|c.(811-813)gCg>gTg|p.A271V|0.6384039900249376|CAGCACGGCCGCCAACACCGT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9435_%2C_0.05651_%2C_.|false|false|1||false|true|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|3828049|889238|false|false|0|true|0|false|0.963081_%2C_0.0369187_%2C_.|false|false|false|SNV|true|0x050100000a05150536000100|1|false|107|rs3828049|] -chr1 889387 exm352 T C . PASS FUNCOTATION=[NOC2L|hg19|chr1|889387|889387|MISSENSE||SNP|T|T|C|g.chr1:889387T>C|ENST00000327044.6|-|7|824|c.774A>G|c.(772-774)atA>atG|p.I258M|0.6458852867830424|ATAGCACCTGTATGGCCGAGC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200405190|889387|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs200405190|] -chr1 889403 exm355 T A . PASS FUNCOTATION=[NOC2L|hg19|chr1|889403|889403|MISSENSE||SNP|T|T|A|g.chr1:889403T>A|ENST00000327044.6|-|7|808|c.758A>T|c.(757-759)tAc>tTc|p.Y253F|0.6359102244389028|CGAGCCCAGGTAAGCCTTGAT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9942_%2C_0.005791|false|false|1||false|false|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|62639963|889403|false|false|0|false|0|false|0.993269_%2C_0.00673123|false|false|false|SNV|true|0x050000000a05040536000100|1|false|129|rs62639963|] -chr1 891309 exm360 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|891309|891309|MISSENSE||SNP|C|C|T|g.chr1:891309C>T|ENST00000327044.6|-|6|742|c.692G>A|c.(691-693)aGc>aAc|p.S231N|0.5960099750623441|TTACCTGCTGCTATCCTTTGC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|148852075|891309|false|false|0|false|0|false|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs148852075|] -chr1 891358 exm369 G T . PASS FUNCOTATION=[NOC2L|hg19|chr1|891358|891358|MISSENSE||SNP|G|G|T|g.chr1:891358G>T|ENST00000327044.6|-|6|693|c.643C>A|c.(643-645)Ctc>Atc|p.L215I|0.5910224438902744|CAGCCAATGAGGTCTCTGATG|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9994_%2C_._%2C_0.000599|false|false|0||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147225789|891358|false|false|0|true|0|false|0.999107_%2C_6.8686e-005_%2C_0.000824232|false|false|false|SNV|true|0x050100000a05040436000100|1|false|134|rs147225789|] -chr1 891384 exm371 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891384|891384|MISSENSE||SNP|G|G|A|g.chr1:891384G>A|ENST00000327044.6|-|6|667|c.617C>T|c.(616-618)gCt>gTt|p.A206V|0.57356608478803|GGTAACCAGAGCATTGAATGC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|139726958|891384|false|false|0|false|0|false|0.99976_%2C_0.000240401|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs139726958|] -chr1 891393 exm372 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891393|891393|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:891393G>A|ENST00000327044.6|-|6|658|c.608C>T|c.(607-609)gCa>gTa|p.A203V|0.5785536159600998|AGCATTGAATGCTGCAACGAA|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|113620763|891393|false|false|0|true|0|false|0.998523_%2C_0.00147675|false|false|false|SNV|true|0x050100000a05040536000100|1|false|132|rs113620763|] -chr1 891393 exm372 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891393|891393|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:891393G>A|ENST00000327044.6|-|6|658|c.608C>T|c.(607-609)gCa>gTa|p.A203V|0.5785536159600998|AGCATTGAATGCTGCAACGAA|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|113620763|891393|false|false|0|true|0|false|0.998523_%2C_0.00147675|false|false|false|SNV|true|0x050100000a05040536000100|1|false|132|rs113620763|] -chr1 891591 exm382 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|891591|891591|MISSENSE||SNP|C|C|T|g.chr1:891591C>T|ENST00000327044.6|-|5|541|c.491G>A|c.(490-492)cGc>cAc|p.R164H|0.571072319201995|TGGAGTGAGGCGTTGCTGAAG|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|138672231|891591|false|false|0|false|0|false|0.999244_%2C_0.000755546|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs138672231|] -chr1 891592 exm383 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891592|891592|MISSENSE||SNP|G|G|A|g.chr1:891592G>A|ENST00000327044.6|-|5|540|c.490C>T|c.(490-492)Cgc>Tgc|p.R164C|0.57356608478803|GGAGTGAGGCGTTGCTGAAGG|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200815419|891592|false|false|0|false|0|false|0.999588_%2C_0.000412116|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs200815419|] -chr1 892380 exm395 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|892380|892380|MISSENSE||SNP|G|G|A|g.chr1:892380G>A|ENST00000327044.6|-|4|430|c.380C>T|c.(379-381)gCg>gTg|p.A127V|0.6059850374064838|TCCTTCCTCCGCTCCATCCTC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|150615968|892380|false|false|0|false|0|false|0.997424_%2C_0.00257573|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs150615968|] -chr1 892388 exm396 C G . PASS FUNCOTATION=[NOC2L|hg19|chr1|892388|892388|MISSENSE||SNP|C|C|G|g.chr1:892388C>G|ENST00000327044.6|-|4|422|c.372G>C|c.(370-372)gaG>gaC|p.E124D|0.5985037406483791|CCGCTCCATCCTCCTCCTCAC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149856680|892388|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs149856680|] -chr1 892648 exm1918242 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|892648|892648|MISSENSE||SNP|C|C|T|g.chr1:892648C>T|ENST00000327044.6|-|3|235|c.185G>A|c.(184-186)cGt>cAt|p.R62H|0.5785536159600998|ACGGCCTTTACGCCGGCTGAG|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|185378741|892648|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000000a05040436000100|1|false|135|rs185378741|] -chr1 894315 exm410 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|894315|894315|MISSENSE||SNP|G|G|A|g.chr1:894315G>A|ENST00000327044.6|-|2|223|c.173C>T|c.(172-174)tCg>tTg|p.S58L|0.6334164588528678|TAACCTGGCCGAGGGGCTCCC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|KLHL17:339451_%7C_NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|201512962|894315|false|false|0|false|0|false||false|false|false|SNV|true|0x050000020a05040426000100|1|false|137|rs201512962|] -chr1 894330 exm411 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|894330|894330|MISSENSE||SNP|G|G|A|g.chr1:894330G>A|ENST00000327044.6|-|2|208|c.158C>T|c.(157-159)cCg>cTg|p.P53L|0.6359102244389028|GCTCCCGCCCGGCTTATCCGG|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|KLHL17:339451_%7C_NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|144217019|894330|false|false|0|false|0|false|0.999382_%2C_0.000618174|false|false|false|SNV|true|0x050000020a05040402000100|1|false|134|rs144217019|] -chr1 894573 exm2264981 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|894573|894573|INTRON||SNP|G|G|A|g.chr1:894573G>A|ENST00000327044.6|-|||c.e1-22C>T|||0.6932668329177057|AGGCCAAATCGGCCCTCGGAC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.3656_%2C_0.6344|false|false|1||false|true|true|KLHL17:339451_%7C_NOC2L:26155|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|13303010|894573|false|false|0|true|0|false|0.400467_%2C_0.599533|false|false|false|SNV|true|0x0501000a000517053f000100|1|false|121|rs13303010|] -chr1 894610 exm425 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|894610|894610|MISSENSE||SNP|G|G|A|g.chr1:894610G>A|ENST00000327044.6|-|1|61|c.11C>T|c.(10-12)gCg>gTg|p.A4V|0.71571072319202|GCGGCTCCCCGCAGCTGCCAT|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|KLHL17:339451_%7C_NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|140357200|894610|false|false|0|false|0|false|0.999691_%2C_0.000309087|false|false|false|SNV|true|0x050000020a05040426000100|1|false|134|rs140357200|] -chr1 897009 exm447 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|897009|897009|SPLICE_SITE|MISSENSE|SNP|A|A|G|g.chr1:897009A>G|ENST00000338591.3|+|3|475|c.368A>G|c.(367-369)aAt>aGt|p.N123S|0.6633416458852868|GTCCCCGCAGATGAGATGAGC|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|138690517|897009|false|false|0|false|0|false|0.999451_%2C_0.000549488|false|false|false|SNV|true|0x050000020a05040436000100|1|false|134|rs138690517|] -chr1 897009 exm447 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|897009|897009|SPLICE_SITE|MISSENSE|SNP|A|A|G|g.chr1:897009A>G|ENST00000338591.3|+|3|475|c.368A>G|c.(367-369)aAt>aGt|p.N123S|0.6633416458852868|GTCCCCGCAGATGAGATGAGC|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|138690517|897009|false|false|0|false|0|false|0.999451_%2C_0.000549488|false|false|false|SNV|true|0x050000020a05040436000100|1|false|134|rs138690517|] -chr1 897285 exm464 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|897285|897285|MISSENSE||SNP|A|A|G|g.chr1:897285A>G|ENST00000338591.3|+|4|676|c.569A>G|c.(568-570)gAc>gGc|p.D190G|0.6458852867830424|AGTCAGCTCGACCCCTCCAAC|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|149866042|897285|false|false|0|false|0|false||false|false|false|SNV|true|0x050000020a05040402000100|1|false|137|rs149866042|] -chr1 897849 exm493 C T . PASS FUNCOTATION=[KLHL17|hg19|chr1|897849|897849|MISSENSE||SNP|C|C|T|g.chr1:897849C>T|ENST00000338591.3|+|5|933|c.826C>T|c.(826-828)Cgg>Tgg|p.R276W|0.6533665835411472|GCATGTCCCACGGGTGAGGCG|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146903778|897849|false|false|0|true|0|true|0.999622_%2C_0.000377773|false|false|false|SNV|true|0x050100000b05040402000100|1|false|134|rs146903778|] -chr1 898153 exm503 C A . PASS FUNCOTATION=[KLHL17|hg19|chr1|898153|898153|MISSENSE||SNP|C|C|A|g.chr1:898153C>A|ENST00000338591.3|+|6|1005|c.898C>A|c.(898-900)Ctg>Atg|p.L300M|0.6633416458852868|TGCCGAGAGCCTGGTGAGGCA|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.9986_%2C_0.001398_%2C_.|false|false|1||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147703918|898153|false|false|0|false|0|false|0.998695_%2C_0.00130503_%2C_.|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs147703918|] -chr1 898247 exm513 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|898247|898247|MISSENSE||SNP|G|G|A|g.chr1:898247G>A|ENST00000338591.3|+|6|1099|c.992G>A|c.(991-993)cGc>cAc|p.R331H|0.6783042394014963|GGCACCAGCCGCACACGTCCC|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146171900|898247|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000a05040402000100|1|false|134|rs146171900|] -chr1 898542 exm534 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|898542|898542|MISSENSE||SNP|A|A|G|g.chr1:898542A>G|ENST00000338591.3|+|7|1203|c.1096A>G|c.(1096-1098)Acc>Gcc|p.T366A|0.6807980049875312|CGACACGCGCACCGACCGCTG|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|186429850|898542|false|true|0|false|0|false|0.999897_%2C_0.000103029|false|false|false|SNV|true|0x050200000a05040436000100|1|false|135|rs186429850|] -chr1 898782 exm545 C T . PASS FUNCOTATION=[KLHL17|hg19|chr1|898782|898782|MISSENSE||SNP|C|C|T|g.chr1:898782C>T|ENST00000338591.3|+|8|1360|c.1253C>T|c.(1252-1254)cCg>cTg|p.P418L|0.6259351620947631|ACGTGGCAGCCGGAGGTGTCC|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200489647|898782|false|true|0|true|0|false|0.99976_%2C_._%2C_0.000240401|false|false|false|SNV|true|0x050300000a05040402000100|1|false|137|rs200489647|] -chr1 898787 exm546 G T . PASS FUNCOTATION=[KLHL17|hg19|chr1|898787|898787|MISSENSE||SNP|G|G|T|g.chr1:898787G>T|ENST00000338591.3|+|8|1365|c.1258G>T|c.(1258-1260)Gtg>Ttg|p.V420L|0.6209476309226932|GCAGCCGGAGGTGTCCATGGG|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|143920987|898787|false|true|0|false|0|false|0.999485_%2C_0.000515145|false|false|false|SNV|true|0x050200000a05040436000100|1|false|134|rs143920987|] -chr1 898869 exm554 C T . PASS FUNCOTATION=[KLHL17|hg19|chr1|898869|898869|MISSENSE||SNP|C|C|T|g.chr1:898869C>T|ENST00000338591.3|+|8|1447|c.1340C>T|c.(1339-1341)gCc>gTc|p.A447V|0.6084788029925187|TATGACGGGGCCTCCTGCCTG|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|138106672|898869|false|true|0|false|0|false|0.999897_%2C_0.000103036|false|false|false|SNV|true|0x050200000a05040402000100|1|false|134|rs138106672|] -chr1 899489 exm564 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|899489|899489|MISSENSE||SNP|G|G|A|g.chr1:899489G>A|ENST00000338591.3|+|10|1554|c.1447G>A|c.(1447-1449)Ggg>Agg|p.G483R|0.6733167082294265|TCCGGCAGATGGGAACCTGTA|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200468119|899489|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000a05040402000100|1|false|137|rs200468119|] -chr1 899537 exm570 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|899537|899537|MISSENSE||SNP|A|A|G|g.chr1:899537A>G|ENST00000338591.3|+|10|1602|c.1495A>G|c.(1495-1497)Act>Gct|p.T499A|0.6807980049875312|ACACCTGGCCACTGTGGAGAA|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|192525640|899537|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000a05040436000100|1|false|135|rs192525640|] -chr1 899789 exm580 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|899789|899789|MISSENSE||SNP|G|G|A|g.chr1:899789G>A|ENST00000338591.3|+|11|1686|c.1579G>A|c.(1579-1581)Gtg>Atg|p.V527M|0.7082294264339152|GGGCGTGGCCGTGCTGGAGGG|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199893924|899789|false|true|0|false|0|false|0.999485_%2C_0.000515145|false|false|false|SNV|true|0x050200000a05040436000100|1|false|137|rs199893924|] -chr1 900383 chr1_900383 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|900383|900383|MISSENSE||SNP|G|G|A|g.chr1:900383G>A|ENST00000338591.3|+|12|1848|c.1741G>A|c.(1741-1743)Gcc>Acc|p.A581T|0.6608478802992519|ATGGTTGTACGCCGTGGGGGG|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false||false|false|||false|false|false|PLEKHN1:84069_%7C_KLHL17:339451|false|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|749868050|900383|false|false|0|false|0|false||false|false|false|SNV|true|0x050000020a05040002000100|1|false|144|rs749868050|] -chr1 900427 exm2253593 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|900427|900427|SILENT||SNP|G|G|A|g.chr1:900427G>A|ENST00000338591.3|+|12|1892|c.1785G>A|c.(1783-1785)gaG>gaA|p.E595E|0.6508728179551122|ACTCCATCGAGAAGTACAACC|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.9649_%2C_0.03514|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|115741058|900427|false|true|0|true|0|true|0.949413_%2C_0.0505873|false|false|false|SNV|true|0x05030002030515043e000100|1|false|132|rs115741058|] -chr1 900427 exm596 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|900427|900427|SILENT||SNP|G|G|A|g.chr1:900427G>A|ENST00000338591.3|+|12|1892|c.1785G>A|c.(1783-1785)gaG>gaA|p.E595E|0.6508728179551122|ACTCCATCGAGAAGTACAACC|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.9649_%2C_0.03514|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|115741058|900427|false|true|0|true|0|true|0.949413_%2C_0.0505873|false|false|false|SNV|true|0x05030002030515043e000100|1|false|132|rs115741058|] -chr1 900519 exm603 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|900519|900519|MISSENSE||SNP|A|A|G|g.chr1:900519A>G|ENST00000338591.3|+|12|1984|c.1877A>G|c.(1876-1878)aAt>aGt|p.N626S|0.5960099750623441|GAGCTGCTCAATTTCCCGCCG|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false||false|false|||false|false|false|PLEKHN1:84069_%7C_KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|140019196|900519|false|false|0|false|0|false|0.999657_%2C_0.000343454|false|false|false|SNV|true|0x050000020a05040402000100|1|false|134|rs140019196|] -chr1 900560 exm611 A C . PASS FUNCOTATION=[KLHL17|hg19|chr1|900560|900560|MISSENSE||SNP|A|A|C|g.chr1:900560A>C|ENST00000338591.3|+|12|2025|c.1918A>C|c.(1918-1920)Acc>Ccc|p.T640P|0.5760598503740648|CGTGTCCTCCACCAGCCTCTG|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false||false|false|||false|false|false|PLEKHN1:84069_%7C_KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|188543688|900560|false|false|0|false|0|false||false|false|false|SNV|true|0x050000020a05040402000100|1|false|135|rs188543688|] -chr1 901922 exm1918827 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|901922|901922|MISSENSE||SNP|G|G|A|g.chr1:901922G>A|ENST00000379410.3|+|1|46|c.11G>A|c.(10-12)aGc>aAc|p.S4N|0.7231920199501247|ATGGGGAACAGCCACTGTGTC|PLEKHN1_ENST00000379407.3_MISSENSE_p.S4N/PLEKHN1_ENST00000379409.2_MISSENSE_p.S4N|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9882_%2C_0.01058_%2C_0.001198|false|false|1||false|false|false|PLEKHN1:84069|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|62639980|901922|false|false|0|true|0|false|0.98221_%2C_0.0158321_%2C_0.00195755|false|false|false|SNV|true|0x050100000a05140536000100|1|false|129|rs62639980|] -chr1 901923 exm615 C A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|901923|901923|MISSENSE||SNP|C|C|A|g.chr1:901923C>A|ENST00000379410.3|+|1|47|c.12C>A|c.(10-12)agC>agA|p.S4R|0.7256857855361596|TGGGGAACAGCCACTGTGTCC|PLEKHN1_ENST00000379407.3_MISSENSE_p.S4R/PLEKHN1_ENST00000379409.2_MISSENSE_p.S4R|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9894_%2C_0.01058|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149741186|901923|false|false|0|true|0|false|0.984168_%2C_0.0158321|false|false|false|SNV|true|0x050100000a05140436000100|1|false|134|rs149741186|] -chr1 902088 exm624 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|902088|902088|MISSENSE||SNP|G|G|A|g.chr1:902088G>A|ENST00000379410.3|+|2|123|c.88G>A|c.(88-90)Gac>Aac|p.D30N|0.71571072319202|CCCCAGAGAGGACAGCGCGCG|PLEKHN1_ENST00000379407.3_MISSENSE_p.D30N/PLEKHN1_ENST00000379409.2_MISSENSE_p.D30N|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201730138|902088|false|false|0|false|0|false|0.999622_%2C_0.000377773|false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs201730138|] -chr1 902128 exm628 C T . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|902128|902128|MISSENSE||SNP|C|C|T|g.chr1:902128C>T|ENST00000379410.3|+|2|163|c.128C>T|c.(127-129)gCt>gTt|p.A43V|0.7231920199501247|GGCCCCGAGGCTGCTCGAAGC|PLEKHN1_ENST00000379407.3_MISSENSE_p.A43V/PLEKHN1_ENST00000379409.2_MISSENSE_p.A43V|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9439_%2C_0.05611|false|false|1||false|true|false|PLEKHN1:84069|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|28499371|902128|false|false|0|true|0|false|0.971221_%2C_0.0287794|false|false|false|SNV|true|0x050100000a05150537000100|1|false|125|rs28499371|] -chr1 902133 exm629 C G . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|902133|902133|MISSENSE||SNP|C|C|G|g.chr1:902133C>G|ENST00000379410.3|+|2|168|c.133C>G|c.(133-135)Cga>Gga|p.R45G|0.7256857855361596|CGAGGCTGCTCGAAGCGGGGA|PLEKHN1_ENST00000379407.3_MISSENSE_p.R45G/PLEKHN1_ENST00000379409.2_MISSENSE_p.R45G|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|false|false|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|202165740|902133|false|false|0|false|0|false|0.999931_%2C_6.8686e-005_%2C_.|false|false|false|SNV|true|0x050000000e05040402000100|1|false|137|rs202165740|] -chr1 902176 exm635 C T . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|902176|902176|MISSENSE||SNP|C|C|T|g.chr1:902176C>T|ENST00000379410.3|+|2|211|c.176C>T|c.(175-177)cCg>cTg|p.P59L|0.7206982543640897|CACTACATCCCGGGCACGGTG|PLEKHN1_ENST00000379407.3_MISSENSE_p.P59L/PLEKHN1_ENST00000379409.2_MISSENSE_p.P59L|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200379767|902176|false|false|0|false|0|false|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs200379767|] -chr1 904165 rs28391282 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|904165|904165|INTRON||SNP|G|G|A|g.chr1:904165G>A|ENST00000379410.3|+|||c.e3-1492G>A|||0.57356608478803|TAAGGAGGGGGGTCAGGACTG|PLEKHN1_ENST00000379407.3_INTRON/PLEKHN1_ENST00000379409.2_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.8982_%2C_0.1018|false|false|1||false|true|false|PLEKHN1:84069|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28391282|904165|false|false|0|true|0|false|0.908098_%2C_0.0919019|false|false|false|SNV|true|0x05010008000515053f000100|1|false|125|rs28391282|] -chr1 905669 exm636 C G . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|905669|905669|MISSENSE||SNP|C|C|G|g.chr1:905669C>G|ENST00000379410.3|+|3|231|c.196C>G|c.(196-198)Ctg>Gtg|p.L66V|0.6109725685785536|CATCCTGGACCTGGAGAACCA|PLEKHN1_ENST00000379407.3_MISSENSE_p.L66V/PLEKHN1_ENST00000379409.2_MISSENSE_p.L66V|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9992_%2C_0.0007987_%2C_.|false|false|0||false|false|false|PLEKHN1:84069|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|111483874|905669|false|false|0|true|0|true|0.998145_%2C_0.00185452_%2C_.|false|false|false|SNV|true|0x050100000b05040536000100|1|false|132|rs111483874|] -chr1 905723 exm638 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|905723|905723|MISSENSE||SNP|G|G|A|g.chr1:905723G>A|ENST00000379410.3|+|3|285|c.250G>A|c.(250-252)Ggg>Agg|p.G84R|0.6259351620947631|GTTCAAGAAGGGGCGGCGGAG|PLEKHN1_ENST00000379407.3_MISSENSE_p.G84R/PLEKHN1_ENST00000379409.2_MISSENSE_p.G84R|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|150703609|905723|false|false|0|false|0|false|0.999691_%2C_0.000309087|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs150703609|] -chr1 905729 exm639 C T . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|905729|905729|MISSENSE||SNP|C|C|T|g.chr1:905729C>T|ENST00000379410.3|+|3|291|c.256C>T|c.(256-258)Cgg>Tgg|p.R86W|0.6184538653366584|GAAGGGGCGGCGGAGGGTGCC|PLEKHN1_ENST00000379407.3_MISSENSE_p.R86W/PLEKHN1_ENST00000379409.2_MISSENSE_p.R86W|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199982229|905729|false|false|0|false|0|false|0.999897_%2C_0.000103029|false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs199982229|] -chr1 905901 exm648 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|905901|905901|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:905901G>A|ENST00000379410.3|+|4|366|c.331G>A|c.(331-333)Gat>Aat|p.D111N|0.6458852867830424|CCCCGCGCAGGATGTCAGCGA|PLEKHN1_ENST00000379407.3_SPLICE_SITE_p.D111N/PLEKHN1_ENST00000379409.2_SPLICE_SITE_p.D111N|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200191592|905901|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040416000100|1|false|137|rs200191592|] -chr1 905901 exm648 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|905901|905901|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:905901G>A|ENST00000379410.3|+|4|366|c.331G>A|c.(331-333)Gat>Aat|p.D111N|0.6458852867830424|CCCCGCGCAGGATGTCAGCGA|PLEKHN1_ENST00000379407.3_SPLICE_SITE_p.D111N/PLEKHN1_ENST00000379409.2_SPLICE_SITE_p.D111N|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200191592|905901|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040416000100|1|false|137|rs200191592|] -chr1 906067 exm656 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906067|906067|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:906067G>A|ENST00000379410.3|+|5|448|c.413G>A|c.(412-414)gGg>gAg|p.G138E|0.6583541147132169|GCCTGGCAGGGGCTGTTACCG|PLEKHN1_ENST00000379407.3_SPLICE_SITE_p.G138E/PLEKHN1_ENST00000379409.2_SPLICE_SITE_p.G138E|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199749406|906067|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs199749406|] -chr1 906067 exm656 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906067|906067|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:906067G>A|ENST00000379410.3|+|5|448|c.413G>A|c.(412-414)gGg>gAg|p.G138E|0.6583541147132169|GCCTGGCAGGGGCTGTTACCG|PLEKHN1_ENST00000379407.3_SPLICE_SITE_p.G138E/PLEKHN1_ENST00000379409.2_SPLICE_SITE_p.G138E|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199749406|906067|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs199749406|] -chr1 906100 exm662 C T . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906100|906100|MISSENSE||SNP|C|C|T|g.chr1:906100C>T|ENST00000379410.3|+|5|481|c.446C>T|c.(445-447)cCg>cTg|p.P149L|0.6658354114713217|AGTGTCTGCCCGCTCGAGGGG|PLEKHN1_ENST00000379407.3_MISSENSE_p.P149L/PLEKHN1_ENST00000379409.2_MISSENSE_p.P149L|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144236796|906100|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs144236796|] -chr1 906132 exm668 A G . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906132|906132|MISSENSE||SNP|A|A|G|g.chr1:906132A>G|ENST00000379410.3|+|5|513|c.478A>G|c.(478-480)Atc>Gtc|p.I160V|0.6733167082294265|CGCCTTCCAGATCACAGGTGT|PLEKHN1_ENST00000379407.3_MISSENSE_p.I160V/PLEKHN1_ENST00000379409.2_MISSENSE_p.I160V|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147501349|906132|false|false|0|false|0|false|0.99976_%2C_0.000240401|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs147501349|] -chr1 906298 exm674 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906298|906298|MISSENSE||SNP|G|G|A|g.chr1:906298G>A|ENST00000379410.3|+|6|559|c.524G>A|c.(523-525)cGg>cAg|p.R175Q|0.7032418952618454|TGCCCCAGCCGGGCCGAGCTG|PLEKHN1_ENST00000379407.3_MISSENSE_p.R175Q/PLEKHN1_ENST00000379409.2_MISSENSE_p.R215Q|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199870272|906298|false|false|0|false|0|false|0.999451_%2C_0.000549488|false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs199870272|] -chr1 906472 exm1918903 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906472|906472|INTRON||SNP|G|G|A|g.chr1:906472G>A|ENST00000379410.3|+|||c.e7-21G>A|||0.7082294264339152|CTGCGGAGACGAACTCCCCTG|PLEKHN1_ENST00000379407.3_MISSENSE_p.E210K/PLEKHN1_ENST00000379409.2_MISSENSE_p.E250K|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|PLEKHN1:84069|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201680039|906472|false|false|0|false|0|false|0.999347_%2C_0.000652517|false|false|false|SNV|true|0x050000080a05040436000100|1|false|137|rs201680039|] -chr1 906494 exm684 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906494|906494|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:906494G>A|ENST00000379410.3|+|7|649|c.614G>A|c.(613-615)cGc>cAc|p.R205H|0.7057356608478803|ACTTTGCAGCGCCGTCTAACC|PLEKHN1_ENST00000379407.3_MISSENSE_p.R217H/PLEKHN1_ENST00000379409.2_MISSENSE_p.R257H|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200703251|906494|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs200703251|] -chr1 906494 exm684 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906494|906494|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:906494G>A|ENST00000379410.3|+|7|649|c.614G>A|c.(613-615)cGc>cAc|p.R205H|0.7057356608478803|ACTTTGCAGCGCCGTCTAACC|PLEKHN1_ENST00000379407.3_MISSENSE_p.R217H/PLEKHN1_ENST00000379409.2_MISSENSE_p.R257H|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200703251|906494|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs200703251|] -chr1 906512 exm687 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906512|906512|MISSENSE||SNP|G|G|A|g.chr1:906512G>A|ENST00000379410.3|+|7|667|c.632G>A|c.(631-633)cGg>cAg|p.R211Q|0.7032418952618454|ACCCGGCTGCGGACGGCGTCA|PLEKHN1_ENST00000379407.3_MISSENSE_p.R223Q/PLEKHN1_ENST00000379409.2_MISSENSE_p.R263Q|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9988_%2C_0.001198_%2C_.|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201888830|906512|false|false|0|false|0|false|0.999828_%2C_0.000171715_%2C_.|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs201888830|] -chr1 906583 exm694 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906583|906583|MISSENSE||SNP|G|G|A|g.chr1:906583G>A|ENST00000379410.3|+|7|738|c.703G>A|c.(703-705)Gca>Aca|p.A235T|0.6733167082294265|GCACCTGCCCGCACAGGTGGG|PLEKHN1_ENST00000379407.3_MISSENSE_p.A247T/PLEKHN1_ENST00000379409.2_MISSENSE_p.A287T|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200886536|906583|false|true|0|false|0|false|0.999554_%2C_0.000446459|false|false|false|SNV|true|0x050200000a05040436000100|1|false|137|rs200886536|] -chr1 906717 exm697 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906717|906717|MISSENSE||SNP|G|G|A|g.chr1:906717G>A|ENST00000379410.3|+|8|757|c.722G>A|c.(721-723)cGg>cAg|p.R241Q|0.6807980049875312|CAGTGGGACCGGCTCTTGGTC|PLEKHN1_ENST00000379407.3_MISSENSE_p.R253Q/PLEKHN1_ENST00000379409.2_MISSENSE_p.R293Q|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|139460652|906717|false|true|0|false|0|false|0.999657_%2C_0.00034343|false|false|false|SNV|true|0x050200000a05040402000100|1|false|134|rs139460652|] -chr1 907676 exm714 A T . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|907676|907676|MISSENSE||SNP|A|A|T|g.chr1:907676A>T|ENST00000379410.3|+|10|909|c.874A>T|c.(874-876)Atc>Ttc|p.I292F|0.6708229426433915|AGGCCCCCTCATCAACACCAT|PLEKHN1_ENST00000379407.3_MISSENSE_p.I304F/PLEKHN1_ENST00000379409.2_MISSENSE_p.I344F|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|145042066|907676|false|true|0|false|0|false|0.998077_%2C_0.00192321|false|false|false|SNV|true|0x050200000a05040426000100|1|false|134|rs145042066|] -chr1 907709 exm717 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|907709|907709|MISSENSE||SNP|G|G|A|g.chr1:907709G>A|ENST00000379410.3|+|10|942|c.907G>A|c.(907-909)Gag>Aag|p.E303K|0.6733167082294265|CGCCAGCTACGAGGACTACGG|PLEKHN1_ENST00000379407.3_MISSENSE_p.E315K/PLEKHN1_ENST00000379409.2_MISSENSE_p.E355K|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|150711457|907709|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000a05040402000100|1|false|134|rs150711457|] -chr1 907799 exm725 T C . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|907799|907799|MISSENSE||SNP|T|T|C|g.chr1:907799T>C|ENST00000379410.3|+|10|1032|c.997T>C|c.(997-999)Tcg>Ccg|p.S333P|0.6259351620947631|CTTCCCAGGGTCGCAGGTGAG|PLEKHN1_ENST00000379407.3_MISSENSE_p.S345P/PLEKHN1_ENST00000379409.2_MISSENSE_p.S385P|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9876_%2C_0.01238|false|false|1||false|true|false|PLEKHN1:84069|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|111909377|907799|false|false|0|true|0|false|0.984271_%2C_0.0157291|false|false|false|SNV|true|0x050100000a05150536000100|1|false|132|rs111909377|] -chr1 908275 exm727 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|908275|908275|MISSENSE||SNP|G|G|A|g.chr1:908275G>A|ENST00000379410.3|+|11|1072|c.1037G>A|c.(1036-1038)gGc>gAc|p.G346D|0.6508728179551122|CTCTCCTCAGGCGGACAGACC|PLEKHN1_ENST00000379407.3_MISSENSE_p.G358D/PLEKHN1_ENST00000379409.2_MISSENSE_p.G398D|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9878_%2C_0.01218|false|false|1||false|true|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|145574509|908275|false|false|0|false|0|false|0.994677_%2C_0.00532317|false|false|false|SNV|true|0x050000000a05150436000100|1|false|134|rs145574509|] -chr1 908323 exm1918959 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|908323|908323|MISSENSE||SNP|G|G|A|g.chr1:908323G>A|ENST00000379410.3|+|11|1120|c.1085G>A|c.(1084-1086)cGc>cAc|p.R362H|0.6483790523690773|CCCTCCACCCGCACCAGCCAC|PLEKHN1_ENST00000379407.3_MISSENSE_p.R374H/PLEKHN1_ENST00000379409.2_MISSENSE_p.R414H|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9872_%2C_0.01278|false|false|1||false|true|false|PLEKHN1:84069|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|61732689|908323|false|false|0|true|0|false|0.984237_%2C_0.0157634|false|false|false|SNV|true|0x050100000a05150536000100|1|false|129|rs61732689|] -chr1 908389 exm738 C T . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|908389|908389|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:908389C>T|ENST00000379410.3|+|11|1186|c.1151C>T|c.(1150-1152)cCg>cTg|p.P384L|0.6608478802992519|CAGCACACACCGGTGAGCGCT|PLEKHN1_ENST00000379407.3_SPLICE_SITE_p.P396L/PLEKHN1_ENST00000379409.2_SPLICE_SITE_p.P436L|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.999_%2C_._%2C_0.0009984|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|75748725|908389|false|false|0|true|0|false|0.99715_%2C_._%2C_0.00285047|false|false|false|SNV|true|0x050100000a05040436000100|1|false|131|rs75748725|] -chr1 908390 exm739 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|908390|908390|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:908390G>A|ENST00000379410.3|+|11|1187|c.1152G>A|c.(1150-1152)ccG>ccA|p.P384P|0.6583541147132169|AGCACACACCGGTGAGCGCTT|PLEKHN1_ENST00000379407.3_SPLICE_SITE_p.P396P/PLEKHN1_ENST00000379409.2_SPLICE_SITE_p.P436P|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9968_%2C_0.003195|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|148169601|908390|false|false|0|false|0|true|0.999897_%2C_0.000103029|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs148169601|] -chr1 908390 exm739 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|908390|908390|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:908390G>A|ENST00000379410.3|+|11|1187|c.1152G>A|c.(1150-1152)ccG>ccA|p.P384P|0.6583541147132169|AGCACACACCGGTGAGCGCTT|PLEKHN1_ENST00000379407.3_SPLICE_SITE_p.P396P/PLEKHN1_ENST00000379409.2_SPLICE_SITE_p.P436P|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9968_%2C_0.003195|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|148169601|908390|false|false|0|false|0|true|0.999897_%2C_0.000103029|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs148169601|] -chr1 909320 exm2253598 C T . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|909320|909320|SILENT||SNP|C|C|T|g.chr1:909320C>T|ENST00000379410.3|+|14|1577|c.1542C>T|c.(1540-1542)ccC>ccT|p.P514P|0.6957605985037406|CCTCCGGCCCCGCTGGCCCCT|PLEKHN1_ENST00000379407.3_SILENT_p.P479P/PLEKHN1_ENST00000379409.2_SILENT_p.P566P|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9986_%2C_0.001398|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|144710974|909320|false|false|0|false|0|true|0.998077_%2C_0.00192334|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs144710974|] -chr1 918573 rs2341354 A G . PASS FUNCOTATION=[C1orf170|hg19|chr1|918573|918573|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:918573A>G|ENST00000341290.2|-||||||0.6408977556109726|CGAACCTCTCACATTTCCAGG|C1orf170_ENST00000433179.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||||||||||||||||||||||||||||||||||PERM1_HUMAN||Q6ZVZ7_%7C_Q9BRF2_%7C_S5G239|Q5SV97|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_response_%20_to_%20_muscle_%20_activity_%20_(GO:0014850)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 928836 rs9777703 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|928836|928836|IGR||SNP|C|C|T|g.chr1:928836C>T|no_transcript|||||||0.5985037406483791|TTCCTAAAGCCGAACTGGAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 932457 rs1891910 G A . PASS FUNCOTATION=[RP11-54O7.17|hg19|chr1|932457|932457|LINCRNA||SNP|G|G|A|g.chr1:932457G>A|ENST00000606034.1|-|||c.e1-974C>T|||0.6408977556109726|CATTCAAAGGGATGGATTAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8684_%2C_0.1316_%2C_.|false|false|1||false|true|false||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|1891910|932457|false|false|0|true|0|false|0.840569_%2C_0.159397_%2C_3.43454e-005|false|false|false|SNV|true|0x05010000000515053f000100|1|false|92|rs1891910|] -chr1 944564 rs3128117 T C . PASS FUNCOTATION=[ISG15|hg19|chr1|944564|944564|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:944564T>C|ENST00000379389.4|+||||||0.47880299251870323|AGAATACATTTCTGTGGTGTG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M21786|NM_005101.3|NP_005092.1|HGNC:4053|ISG15_%20_ubiquitin-like_%20_modifier|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|G1P2|"interferon_%2C__%20_alpha-inducible_%20_protein_%20_(clone_%20_IFI-15K)"|IFI15_%2C__%20_UCRP||1p36.33|2015-08-25|2006-04-28|2006-04-28|BC009507||9636|ENSG00000187608|3087979|NM_005101|||CCDS6|OTTHUMG00000040777|9636|147571|NM_005101|P05161|ENSG00000187608|uc001acj.5|ISG15_HUMAN||Q5SVA4_%7C_Q7Z2G2_%7C_Q96GF0|P05161|cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_defense_%20_response_%20_to_%20_bacterium_%20_(GO:0042742)_%7C_defense_%20_response_%20_to_%20_virus_%20_(GO:0051607)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_ISG15-protein_%20_conjugation_%20_(GO:0032020)_%7C_modification-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0019941)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032480)_%7C_negative_%20_regulation_%20_of_%20_viral_%20_genome_%20_replication_%20_(GO:0045071)_%7C_positive_%20_regulation_%20_of_%20_erythrocyte_%20_differentiation_%20_(GO:0045648)_%7C_regulation_%20_of_%20_interferon-gamma_%20_production_%20_(GO:0032649)_%7C_response_%20_to_%20_type_%20_I_%20_interferon_%20_(GO:0034340)_%7C_type_%20_I_%20_interferon_%20_signaling_%20_pathway_%20_(GO:0060337)_%7C_viral_%20_process_%20_(GO:0016032)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|protein_%20_tag_%20_(GO:0031386)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 962210 rs3128126 A G . PASS FUNCOTATION=[AGRN|hg19|chr1|962210|962210|INTRON||SNP|A|A|G|g.chr1:962210A>G|ENST00000379370.2|+|||c.e2+4368A>G|||0.6658354114713217|ATATCACCCCATGGACAGTCG||||||||||||||||||||||||||163|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(45)_%7C_kidney(1)_%7C_large_intestine(35)_%7C_lung(2)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(24)|||||||U84406|NM_198576.3|NP_940978.2|HGNC:329|agrin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AGRIN|"agrin_%20_proteoglycan"|||1p36.33|2017-07-07|2007-02-16||XM_372195||375790|ENSG00000188157|1851019_%2C__%20_12270958|NM_198576|570|Proteoglycans|CCDS30551|OTTHUMG00000040778|375790|103320|NM_001305275|O00468|ENSG00000188157|uc001ack.3|AGRIN_HUMAN||Q5SVA1_%7C_Q5SVA2_%7C_Q60FE1_%7C_Q7KYS8_%7C_Q8N4J5_%7C_Q96IC1_%7C_Q9BTD4|O00468|axon_%20_guidance_%20_(GO:0007411)_%7C_carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_clustering_%20_of_%20_voltage-gated_%20_sodium_%20_channels_%20_(GO:0045162)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_glycosaminoglycan_%20_biosynthetic_%20_process_%20_(GO:0006024)_%7C_glycosaminoglycan_%20_catabolic_%20_process_%20_(GO:0006027)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_receptor_%20_metabolic_%20_process_%20_(GO:0045213)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_plasma_%20_membrane_%20_organization_%20_(GO:0007009)_%7C_positive_%20_regulation_%20_of_%20_filopodium_%20_assembly_%20_(GO:0051491)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_growth_%20_at_%20_neuromuscular_%20_junction_%20_(GO:0045887)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synapse_%20_organization_%20_(GO:0050808)|basal_%20_lamina_%20_(GO:0005605)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|acetylcholine_%20_receptor_%20_regulator_%20_activity_%20_(GO:0030548)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_chondroitin_%20_sulfate_%20_binding_%20_(GO:0035374)_%7C_dystroglycan_%20_binding_%20_(GO:0002162)_%7C_heparan_%20_sulfate_%20_proteoglycan_%20_binding_%20_(GO:0043395)_%7C_laminin_%20_binding_%20_(GO:0043236)_%7C_sialic_%20_acid_%20_binding_%20_(GO:0033691)_%7C_structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)||||true|false|0.6945_%2C_0.3055|false|false|1||false|true|true|AGRN:375790|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3128126|962210|false|false|0|true|0|false|0.661481_%2C_0.338519|false|false|false|SNV|true|0x05010008000517053f000100|1|false|103|rs3128126|] -chr1 980903 exm1107 C T . PASS FUNCOTATION=[AGRN|hg19|chr1|980903|980903|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:980903C>T|ENST00000379370.2|+|14|2586|c.2536C>T|c.(2536-2538)Ccc>Tcc|p.P846S|0.6633416458852868|TGGCTGTACACGTGAGTGACA||||||||||||||||||||||||||163|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(45)_%7C_kidney(1)_%7C_large_intestine(35)_%7C_lung(2)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(24)|||||||U84406|NM_198576.3|NP_940978.2|HGNC:329|agrin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AGRIN|"agrin_%20_proteoglycan"|||1p36.33|2017-07-07|2007-02-16||XM_372195||375790|ENSG00000188157|1851019_%2C__%20_12270958|NM_198576|570|Proteoglycans|CCDS30551|OTTHUMG00000040778|375790|103320|NM_001305275|O00468|ENSG00000188157|uc001ack.3|AGRIN_HUMAN||Q5SVA1_%7C_Q5SVA2_%7C_Q60FE1_%7C_Q7KYS8_%7C_Q8N4J5_%7C_Q96IC1_%7C_Q9BTD4|O00468|axon_%20_guidance_%20_(GO:0007411)_%7C_carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_clustering_%20_of_%20_voltage-gated_%20_sodium_%20_channels_%20_(GO:0045162)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_glycosaminoglycan_%20_biosynthetic_%20_process_%20_(GO:0006024)_%7C_glycosaminoglycan_%20_catabolic_%20_process_%20_(GO:0006027)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_receptor_%20_metabolic_%20_process_%20_(GO:0045213)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_plasma_%20_membrane_%20_organization_%20_(GO:0007009)_%7C_positive_%20_regulation_%20_of_%20_filopodium_%20_assembly_%20_(GO:0051491)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_growth_%20_at_%20_neuromuscular_%20_junction_%20_(GO:0045887)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synapse_%20_organization_%20_(GO:0050808)|basal_%20_lamina_%20_(GO:0005605)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|acetylcholine_%20_receptor_%20_regulator_%20_activity_%20_(GO:0030548)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_chondroitin_%20_sulfate_%20_binding_%20_(GO:0035374)_%7C_dystroglycan_%20_binding_%20_(GO:0002162)_%7C_heparan_%20_sulfate_%20_proteoglycan_%20_binding_%20_(GO:0043395)_%7C_laminin_%20_binding_%20_(GO:0043236)_%7C_sialic_%20_acid_%20_binding_%20_(GO:0033691)_%7C_structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)||||true|false||false|false|||false|false|false|AGRN:375790|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|138248828|980903|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs138248828|] -chr1 981345 exm1123 C T . PASS FUNCOTATION=[AGRN|hg19|chr1|981345|981345|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:981345C>T|ENST00000379370.2|+|16|2732|c.2682C>T|c.(2680-2682)gaC>gaT|p.D894D|0.6583541147132169|GTGCCCCAGACGCTTCTGCGC||||||||||||||||||||||||||163|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(45)_%7C_kidney(1)_%7C_large_intestine(35)_%7C_lung(2)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(24)|||||||U84406|NM_198576.3|NP_940978.2|HGNC:329|agrin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AGRIN|"agrin_%20_proteoglycan"|||1p36.33|2017-07-07|2007-02-16||XM_372195||375790|ENSG00000188157|1851019_%2C__%20_12270958|NM_198576|570|Proteoglycans|CCDS30551|OTTHUMG00000040778|375790|103320|NM_001305275|O00468|ENSG00000188157|uc001ack.3|AGRIN_HUMAN||Q5SVA1_%7C_Q5SVA2_%7C_Q60FE1_%7C_Q7KYS8_%7C_Q8N4J5_%7C_Q96IC1_%7C_Q9BTD4|O00468|axon_%20_guidance_%20_(GO:0007411)_%7C_carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_clustering_%20_of_%20_voltage-gated_%20_sodium_%20_channels_%20_(GO:0045162)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_glycosaminoglycan_%20_biosynthetic_%20_process_%20_(GO:0006024)_%7C_glycosaminoglycan_%20_catabolic_%20_process_%20_(GO:0006027)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_receptor_%20_metabolic_%20_process_%20_(GO:0045213)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_plasma_%20_membrane_%20_organization_%20_(GO:0007009)_%7C_positive_%20_regulation_%20_of_%20_filopodium_%20_assembly_%20_(GO:0051491)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_growth_%20_at_%20_neuromuscular_%20_junction_%20_(GO:0045887)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synapse_%20_organization_%20_(GO:0050808)|basal_%20_lamina_%20_(GO:0005605)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|acetylcholine_%20_receptor_%20_regulator_%20_activity_%20_(GO:0030548)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_chondroitin_%20_sulfate_%20_binding_%20_(GO:0035374)_%7C_dystroglycan_%20_binding_%20_(GO:0002162)_%7C_heparan_%20_sulfate_%20_proteoglycan_%20_binding_%20_(GO:0043395)_%7C_laminin_%20_binding_%20_(GO:0043236)_%7C_sialic_%20_acid_%20_binding_%20_(GO:0033691)_%7C_structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)||||true|false|0.998_%2C_0.001997|false|false|1||false|false|false|AGRN:375790|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|118105080|981345|false|false|0|true|0|true|0.99976_%2C_0.000240401|false|false|false|SNV|true|0x050128000305040436000100|1|false|132|rs118105080|] -chr1 981345 exm1123 C T . PASS FUNCOTATION=[AGRN|hg19|chr1|981345|981345|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:981345C>T|ENST00000379370.2|+|16|2732|c.2682C>T|c.(2680-2682)gaC>gaT|p.D894D|0.6583541147132169|GTGCCCCAGACGCTTCTGCGC||||||||||||||||||||||||||163|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(45)_%7C_kidney(1)_%7C_large_intestine(35)_%7C_lung(2)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(24)|||||||U84406|NM_198576.3|NP_940978.2|HGNC:329|agrin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AGRIN|"agrin_%20_proteoglycan"|||1p36.33|2017-07-07|2007-02-16||XM_372195||375790|ENSG00000188157|1851019_%2C__%20_12270958|NM_198576|570|Proteoglycans|CCDS30551|OTTHUMG00000040778|375790|103320|NM_001305275|O00468|ENSG00000188157|uc001ack.3|AGRIN_HUMAN||Q5SVA1_%7C_Q5SVA2_%7C_Q60FE1_%7C_Q7KYS8_%7C_Q8N4J5_%7C_Q96IC1_%7C_Q9BTD4|O00468|axon_%20_guidance_%20_(GO:0007411)_%7C_carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_clustering_%20_of_%20_voltage-gated_%20_sodium_%20_channels_%20_(GO:0045162)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_glycosaminoglycan_%20_biosynthetic_%20_process_%20_(GO:0006024)_%7C_glycosaminoglycan_%20_catabolic_%20_process_%20_(GO:0006027)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_receptor_%20_metabolic_%20_process_%20_(GO:0045213)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_plasma_%20_membrane_%20_organization_%20_(GO:0007009)_%7C_positive_%20_regulation_%20_of_%20_filopodium_%20_assembly_%20_(GO:0051491)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_growth_%20_at_%20_neuromuscular_%20_junction_%20_(GO:0045887)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synapse_%20_organization_%20_(GO:0050808)|basal_%20_lamina_%20_(GO:0005605)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|acetylcholine_%20_receptor_%20_regulator_%20_activity_%20_(GO:0030548)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_chondroitin_%20_sulfate_%20_binding_%20_(GO:0035374)_%7C_dystroglycan_%20_binding_%20_(GO:0002162)_%7C_heparan_%20_sulfate_%20_proteoglycan_%20_binding_%20_(GO:0043395)_%7C_laminin_%20_binding_%20_(GO:0043236)_%7C_sialic_%20_acid_%20_binding_%20_(GO:0033691)_%7C_structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)||||true|false|0.998_%2C_0.001997|false|false|1||false|false|false|AGRN:375790|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|118105080|981345|false|false|0|true|0|true|0.99976_%2C_0.000240401|false|false|false|SNV|true|0x050128000305040436000100|1|false|132|rs118105080|] -chr1 984947 exm1957592 G A . PASS FUNCOTATION=[AGRN|hg19|chr1|984947|984947|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:984947G>A|ENST00000379370.2|+|26|4566|c.4516G>A|c.(4516-4518)Gcg>Acg|p.A1506T|0.7007481296758105|TGGTGGCAGGGCGCTGGAGCG||||||||||||||||||||||||||163|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(45)_%7C_kidney(1)_%7C_large_intestine(35)_%7C_lung(2)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(24)|||||||U84406|NM_198576.3|NP_940978.2|HGNC:329|agrin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AGRIN|"agrin_%20_proteoglycan"|||1p36.33|2017-07-07|2007-02-16||XM_372195||375790|ENSG00000188157|1851019_%2C__%20_12270958|NM_198576|570|Proteoglycans|CCDS30551|OTTHUMG00000040778|375790|103320|NM_001305275|O00468|ENSG00000188157|uc001ack.3|AGRIN_HUMAN||Q5SVA1_%7C_Q5SVA2_%7C_Q60FE1_%7C_Q7KYS8_%7C_Q8N4J5_%7C_Q96IC1_%7C_Q9BTD4|O00468|axon_%20_guidance_%20_(GO:0007411)_%7C_carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_clustering_%20_of_%20_voltage-gated_%20_sodium_%20_channels_%20_(GO:0045162)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_glycosaminoglycan_%20_biosynthetic_%20_process_%20_(GO:0006024)_%7C_glycosaminoglycan_%20_catabolic_%20_process_%20_(GO:0006027)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_receptor_%20_metabolic_%20_process_%20_(GO:0045213)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_plasma_%20_membrane_%20_organization_%20_(GO:0007009)_%7C_positive_%20_regulation_%20_of_%20_filopodium_%20_assembly_%20_(GO:0051491)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_growth_%20_at_%20_neuromuscular_%20_junction_%20_(GO:0045887)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synapse_%20_organization_%20_(GO:0050808)|basal_%20_lamina_%20_(GO:0005605)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|acetylcholine_%20_receptor_%20_regulator_%20_activity_%20_(GO:0030548)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_chondroitin_%20_sulfate_%20_binding_%20_(GO:0035374)_%7C_dystroglycan_%20_binding_%20_(GO:0002162)_%7C_heparan_%20_sulfate_%20_proteoglycan_%20_binding_%20_(GO:0043395)_%7C_laminin_%20_binding_%20_(GO:0043236)_%7C_sialic_%20_acid_%20_binding_%20_(GO:0033691)_%7C_structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|AGRN:375790|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200182409|984947|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000a05040436000100|1|false|137|rs200182409|] -chr1 985614 exm1300 C T . PASS FUNCOTATION=[AGRN|hg19|chr1|985614|985614|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:985614C>T|ENST00000379370.2|+|28|4931|c.4881C>T|c.(4879-4881)gcC>gcT|p.A1627A|0.6633416458852868|TCCCTACAGCCTCGGGGCAGG|RP11-54O7.14_ENST00000418300.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||163|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(45)_%7C_kidney(1)_%7C_large_intestine(35)_%7C_lung(2)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(24)|||||||U84406|NM_198576.3|NP_940978.2|HGNC:329|agrin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AGRIN|"agrin_%20_proteoglycan"|||1p36.33|2017-07-07|2007-02-16||XM_372195||375790|ENSG00000188157|1851019_%2C__%20_12270958|NM_198576|570|Proteoglycans|CCDS30551|OTTHUMG00000040778|375790|103320|NM_001305275|O00468|ENSG00000188157|uc001ack.3|AGRIN_HUMAN||Q5SVA1_%7C_Q5SVA2_%7C_Q60FE1_%7C_Q7KYS8_%7C_Q8N4J5_%7C_Q96IC1_%7C_Q9BTD4|O00468|axon_%20_guidance_%20_(GO:0007411)_%7C_carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_clustering_%20_of_%20_voltage-gated_%20_sodium_%20_channels_%20_(GO:0045162)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_glycosaminoglycan_%20_biosynthetic_%20_process_%20_(GO:0006024)_%7C_glycosaminoglycan_%20_catabolic_%20_process_%20_(GO:0006027)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_receptor_%20_metabolic_%20_process_%20_(GO:0045213)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_plasma_%20_membrane_%20_organization_%20_(GO:0007009)_%7C_positive_%20_regulation_%20_of_%20_filopodium_%20_assembly_%20_(GO:0051491)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_growth_%20_at_%20_neuromuscular_%20_junction_%20_(GO:0045887)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synapse_%20_organization_%20_(GO:0050808)|basal_%20_lamina_%20_(GO:0005605)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|acetylcholine_%20_receptor_%20_regulator_%20_activity_%20_(GO:0030548)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_chondroitin_%20_sulfate_%20_binding_%20_(GO:0035374)_%7C_dystroglycan_%20_binding_%20_(GO:0002162)_%7C_heparan_%20_sulfate_%20_proteoglycan_%20_binding_%20_(GO:0043395)_%7C_laminin_%20_binding_%20_(GO:0043236)_%7C_sialic_%20_acid_%20_binding_%20_(GO:0033691)_%7C_structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|AGRN:375790|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|144586153|985614|false|false|0|false|0|true|0.999691_%2C_0.000309087|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs144586153|] -chr1 985614 exm1300 C T . PASS FUNCOTATION=[AGRN|hg19|chr1|985614|985614|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:985614C>T|ENST00000379370.2|+|28|4931|c.4881C>T|c.(4879-4881)gcC>gcT|p.A1627A|0.6633416458852868|TCCCTACAGCCTCGGGGCAGG|RP11-54O7.14_ENST00000418300.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||163|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(45)_%7C_kidney(1)_%7C_large_intestine(35)_%7C_lung(2)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(24)|||||||U84406|NM_198576.3|NP_940978.2|HGNC:329|agrin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AGRIN|"agrin_%20_proteoglycan"|||1p36.33|2017-07-07|2007-02-16||XM_372195||375790|ENSG00000188157|1851019_%2C__%20_12270958|NM_198576|570|Proteoglycans|CCDS30551|OTTHUMG00000040778|375790|103320|NM_001305275|O00468|ENSG00000188157|uc001ack.3|AGRIN_HUMAN||Q5SVA1_%7C_Q5SVA2_%7C_Q60FE1_%7C_Q7KYS8_%7C_Q8N4J5_%7C_Q96IC1_%7C_Q9BTD4|O00468|axon_%20_guidance_%20_(GO:0007411)_%7C_carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_clustering_%20_of_%20_voltage-gated_%20_sodium_%20_channels_%20_(GO:0045162)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_glycosaminoglycan_%20_biosynthetic_%20_process_%20_(GO:0006024)_%7C_glycosaminoglycan_%20_catabolic_%20_process_%20_(GO:0006027)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_receptor_%20_metabolic_%20_process_%20_(GO:0045213)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_plasma_%20_membrane_%20_organization_%20_(GO:0007009)_%7C_positive_%20_regulation_%20_of_%20_filopodium_%20_assembly_%20_(GO:0051491)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_growth_%20_at_%20_neuromuscular_%20_junction_%20_(GO:0045887)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synapse_%20_organization_%20_(GO:0050808)|basal_%20_lamina_%20_(GO:0005605)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|acetylcholine_%20_receptor_%20_regulator_%20_activity_%20_(GO:0030548)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_chondroitin_%20_sulfate_%20_binding_%20_(GO:0035374)_%7C_dystroglycan_%20_binding_%20_(GO:0002162)_%7C_heparan_%20_sulfate_%20_proteoglycan_%20_binding_%20_(GO:0043395)_%7C_laminin_%20_binding_%20_(GO:0043236)_%7C_sialic_%20_acid_%20_binding_%20_(GO:0033691)_%7C_structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|AGRN:375790|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|144586153|985614|false|false|0|false|0|true|0.999691_%2C_0.000309087|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs144586153|] -chr1 990417 rs2465136 T C . PASS FUNCOTATION=[AGRN|hg19|chr1|990417|990417|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:990417T>C|ENST00000379370.2|+|36|||||0.6458852867830424|GTAAACTTGTTGCTTTTTGAT|RP11-54O7.14_ENST00000418300.1_RNA/RP11-465B22.3_ENST00000427998.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||163|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(45)_%7C_kidney(1)_%7C_large_intestine(35)_%7C_lung(2)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(24)|||||||U84406|NM_198576.3|NP_940978.2|HGNC:329|agrin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AGRIN|"agrin_%20_proteoglycan"|||1p36.33|2017-07-07|2007-02-16||XM_372195||375790|ENSG00000188157|1851019_%2C__%20_12270958|NM_198576|570|Proteoglycans|CCDS30551|OTTHUMG00000040778|375790|103320|NM_001305275|O00468|ENSG00000188157|uc001ack.3|AGRIN_HUMAN||Q5SVA1_%7C_Q5SVA2_%7C_Q60FE1_%7C_Q7KYS8_%7C_Q8N4J5_%7C_Q96IC1_%7C_Q9BTD4|O00468|axon_%20_guidance_%20_(GO:0007411)_%7C_carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_clustering_%20_of_%20_voltage-gated_%20_sodium_%20_channels_%20_(GO:0045162)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_glycosaminoglycan_%20_biosynthetic_%20_process_%20_(GO:0006024)_%7C_glycosaminoglycan_%20_catabolic_%20_process_%20_(GO:0006027)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_receptor_%20_metabolic_%20_process_%20_(GO:0045213)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_plasma_%20_membrane_%20_organization_%20_(GO:0007009)_%7C_positive_%20_regulation_%20_of_%20_filopodium_%20_assembly_%20_(GO:0051491)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_growth_%20_at_%20_neuromuscular_%20_junction_%20_(GO:0045887)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synapse_%20_organization_%20_(GO:0050808)|basal_%20_lamina_%20_(GO:0005605)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|acetylcholine_%20_receptor_%20_regulator_%20_activity_%20_(GO:0030548)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_chondroitin_%20_sulfate_%20_binding_%20_(GO:0035374)_%7C_dystroglycan_%20_binding_%20_(GO:0002162)_%7C_heparan_%20_sulfate_%20_proteoglycan_%20_binding_%20_(GO:0043395)_%7C_laminin_%20_binding_%20_(GO:0043236)_%7C_sialic_%20_acid_%20_binding_%20_(GO:0033691)_%7C_structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)||||true|false|0.616_%2C_0.384|false|false|1||false|true|true|AGRN:375790|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2465136|990417|true|false|0|true|0|false|0.565114_%2C_0.434886|false|true|false|SNV|true|0x05010080000517053f000100|1|false|100|rs2465136|] -chr1 998395 rs7526076 A G . PASS FUNCOTATION=[RP11-465B22.3|hg19|chr1|998395|998395|RNA||SNP|A|A|G|g.chr1:998395A>G|ENST00000427998.1|+|||c.e3-64A>G|||0.655860349127182|CGTGGAAACAATGAGGGAGGT|RP11-54O7.18_ENST00000442292.2_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1777_%2C_0.8223|false|false|1||false|true|true|LOC100288175:100288175|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7526076|998395|false|false|0|true|0|false|0.225771_%2C_0.774229|false|false|false|SNV|true|0x05010008000517053f000100|1|false|116|rs7526076|] -chr1 1018704 rs9442372 A G . PASS FUNCOTATION=[C1orf159|hg19|chr1|1018704|1018704|INTRON||SNP|A|A|G|g.chr1:1018704A>G|ENST00000379339.1|-|||c.e12+337T>C|||0.6384039900249376|CCGTAGTCCCAAGACCTCGAA|C1orf159_ENST00000421241.2_INTRON/C1orf159_ENST00000379319.1_INTRON/C1orf159_ENST00000379320.1_INTRON/C1orf159_ENST00000448924.1_INTRON/C1orf159_ENST00000294576.5_INTRON|||||||||||||||||||||||||||||||||BC008788|||HGNC:26062|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_159|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ20584||1p36.33|2016-09-30|||AK128434||54991|ENSG00000131591|12975309|NM_017891|||CCDS7_%2C__%20_CCDS81250|OTTHUMG00000000745|54991||NM_017891|Q96HA4|ENSG00000131591|uc001acu.3|CA159_HUMAN||B3KQ46_%7C_Q5T2W6_%7C_Q6UX67_%7C_Q6ZR77_%7C_Q9NWV0|Q96HA4||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.389_%2C_0.611|false|false|1||false|true|true|C1orf159:54991|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|9442372|1018704|false|false|0|true|0|false|0.413524_%2C_0.586476|false|false|false|SNV|true|0x05010008000517053f000101|1|false|119|rs9442372|] -chr1 1021583 rs10907178 A C . PASS FUNCOTATION=[C1orf159|hg19|chr1|1021583|1021583|INTRON||SNP|A|A|C|g.chr1:1021583A>C|ENST00000379339.1|-|||c.e9+191T>G|||0.6758104738154613|ATGCCTGGGCATCTGGCCGCG|C1orf159_ENST00000421241.2_INTRON/C1orf159_ENST00000379319.1_INTRON/C1orf159_ENST00000379320.1_INTRON/C1orf159_ENST00000448924.1_INTRON/C1orf159_ENST00000294576.5_INTRON/C1orf159_ENST00000437760.1_INTRON/C1orf159_ENST00000482816.1_INTRON|||||||||||||||||||||||||||||||||BC008788|||HGNC:26062|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_159|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ20584||1p36.33|2016-09-30|||AK128434||54991|ENSG00000131591|12975309|NM_017891|||CCDS7_%2C__%20_CCDS81250|OTTHUMG00000000745|54991||NM_017891|Q96HA4|ENSG00000131591|uc001acu.3|CA159_HUMAN||B3KQ46_%7C_Q5T2W6_%7C_Q6UX67_%7C_Q6ZR77_%7C_Q9NWV0|Q96HA4||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.8263_%2C_0.1737|false|false|1||false|true|true|C1orf159:54991|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10907178|1021583|false|false|0|true|0|false|0.814754_%2C_0.185246|false|false|false|SNV|true|0x05010008000517053f000100|1|false|120|rs10907178|] -chr1 1030565 rs6687776 C T . PASS FUNCOTATION=[C1orf159|hg19|chr1|1030565|1030565|INTRON||SNP|C|C|T|g.chr1:1030565C>T|ENST00000379339.1|-|||c.e3+3082G>A|||0.4139650872817955|TGATTAATTGCTTTGGCAATT|C1orf159_ENST00000421241.2_INTRON/C1orf159_ENST00000379319.1_INTRON/C1orf159_ENST00000448924.1_INTRON/C1orf159_ENST00000294576.5_INTRON/C1orf159_ENST00000437760.1_INTRON/C1orf159_ENST00000379320.1_FIVE_PRIME_FLANK/C1orf159_ENST00000482816.1_INTRON|||||||||||||||||||||||||||||||||BC008788|||HGNC:26062|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_159|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ20584||1p36.33|2016-09-30|||AK128434||54991|ENSG00000131591|12975309|NM_017891|||CCDS7_%2C__%20_CCDS81250|OTTHUMG00000000745|54991||NM_017891|Q96HA4|ENSG00000131591|uc001acu.3|CA159_HUMAN||B3KQ46_%7C_Q5T2W6_%7C_Q6UX67_%7C_Q6ZR77_%7C_Q9NWV0|Q96HA4||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.6933_%2C_0.3067|false|false|1||false|true|true|C1orf159:54991|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|6687776|1030565|false|false|0|true|0|false|0.686242_%2C_0.313758|false|false|false|SNV|true|0x05012808000517053f000101|1|false|116|rs6687776|] -chr1 1040026 rs6671356 T C . PASS FUNCOTATION=[C1orf159|hg19|chr1|1040026|1040026|INTRON||SNP|T|T|C|g.chr1:1040026T>C|ENST00000379339.1|-|||c.e2-10376A>G|||0.5211970074812967|CAAGCCTGCATGGTCTGGACA|C1orf159_ENST00000421241.2_INTRON/C1orf159_ENST00000379319.1_INTRON/C1orf159_ENST00000448924.1_INTRON/C1orf159_ENST00000294576.5_INTRON/C1orf159_ENST00000437760.1_INTRON/C1orf159_ENST00000482816.1_INTRON|||||||||||||||||||||||||||||||||BC008788|||HGNC:26062|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_159|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ20584||1p36.33|2016-09-30|||AK128434||54991|ENSG00000131591|12975309|NM_017891|||CCDS7_%2C__%20_CCDS81250|OTTHUMG00000000745|54991||NM_017891|Q96HA4|ENSG00000131591|uc001acu.3|CA159_HUMAN||B3KQ46_%7C_Q5T2W6_%7C_Q6UX67_%7C_Q6ZR77_%7C_Q9NWV0|Q96HA4||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.7171_%2C_0.2829|false|false|1||false|true|true|C1orf159:54991|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6671356|1040026|false|false|0|true|0|false|0.710488_%2C_0.289512|false|false|false|SNV|true|0x05010008000517053f000100|1|false|116|rs6671356|] -chr1 1062638 exm2263810 C A . PASS FUNCOTATION=[Unknown|hg19|chr1|1062638|1062638|IGR||SNP|C|C|A|g.chr1:1062638C>A|no_transcript|||||||0.543640897755611|CCCGGCCCGCCGCAGCTTTAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1062638 rs9442373 C A . PASS FUNCOTATION=[Unknown|hg19|chr1|1062638|1062638|IGR||SNP|C|C|A|g.chr1:1062638C>A|no_transcript|||||||0.543640897755611|CCCGGCCCGCCGCAGCTTTAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1066403 rs10907182 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1066403|1066403|IGR||SNP|T|T|C|g.chr1:1066403T>C|no_transcript|||||||0.5935162094763092|GGTCCGGCAATGGCATCCCAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1097335 rs9442385 T G . PASS FUNCOTATION=[Unknown|hg19|chr1|1097335|1097335|IGR||SNP|T|T|G|g.chr1:1097335T>G|no_transcript|||||||0.6309226932668329|GGGCTCTTCCTCTGGGAGATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1106784 rs4442317 T C . PASS FUNCOTATION=[TTLL10|hg19|chr1|1106784|1106784|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:1106784T>C|ENST00000379289.1|+||||||0.6683291770573566|GAAGGGCCAGTTCTGGAGAGG|TTLL10_ENST00000379290.1_FIVE_PRIME_FLANK/TTLL10_ENST00000506177.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|NM_001130045.1|NP_001123517.1|HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1110019 rs11260542 A G . PASS FUNCOTATION=[TTLL10|hg19|chr1|1110019|1110019|INTRON||SNP|A|A|G|g.chr1:1110019A>G|ENST00000379290.1|+|||c.e3+150A>G|||0.5685785536159601|AGGACACGTCAGTCAGCATCT|TTLL10_ENST00000379289.1_INTRON/TTLL10-AS1_ENST00000379317.1_RNA/TTLL10_ENST00000506177.1_INTRON|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.8554_%2C_0.1446|false|false|1||false|true|false|TTLL10:254173_%7C_TTLL10-AS1:100506376|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11260542|1110019|false|false|0|true|0|false|0.84422_%2C_0.15578|false|false|false|SNV|true|0x050100080005150537000100|1|false|120|rs11260542|] -chr1 1113121 rs12092254 G A . PASS FUNCOTATION=[TTLL10|hg19|chr1|1113121|1113121|INTRON||SNP|G|G|A|g.chr1:1113121G>A|ENST00000379290.1|+|||c.e4-1448G>A|||0.6059850374064838|GGTGCTGAGGGCCCATGAGAA|TTLL10_ENST00000379289.1_INTRON/TTLL10_ENST00000379288.3_FIVE_PRIME_FLANK/TTLL10-AS1_ENST00000379317.1_RNA|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.8786_%2C_0.1214|false|false|1||false|true|false|TTLL10:254173_%7C_TTLL10-AS1:100506376|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|12092254|1113121|false|false|0|true|0|false|0.881997_%2C_0.118003|false|false|false|SNV|true|0x0501000a0005150537000100|1|false|120|rs12092254|] -chr1 1115954 exm1571 C T . PASS FUNCOTATION=[TTLL10|hg19|chr1|1115954|1115954|NONSENSE||SNP|C|C|T|g.chr1:1115954C>T|ENST00000379290.1|+|7|771|c.598C>T|c.(598-600)Cga>Tga|p.R200*|0.6907730673316709|GGTCAAGAGCCGAGACAGCTA|TTLL10_ENST00000379289.1_NONSENSE_p.R200*/TTLL10_ENST00000379288.3_NONSENSE_p.R127*/TTLL10-AS1_ENST00000379317.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|TTLL10:254173|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|191284590|1115954|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000605040436000100|1|false|135|rs191284590|] -chr1 1120488 exm1649 A C . PASS FUNCOTATION=[TTLL10|hg19|chr1|1120488|1120488|SPLICE_SITE|MISSENSE|SNP|A|A|C|g.chr1:1120488A>C|ENST00000379290.1|+|13|1573|c.1400A>C|c.(1399-1401)aAg>aCg|p.K467T|0.6309226932668329|ACCACCCTCAAGGTGCGTCCA|TTLL10_ENST00000379289.1_SPLICE_SITE_p.K467T/TTLL10_ENST00000379288.3_MISSENSE_p.K394T|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.9782_%2C_0.02177|false|false|1||false|true|false|TTLL10:254173|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|74475385|1120488|false|true|0|true|0|false|0.971564_%2C_0.028436|false|false|false|SNV|true|0x050300000a0515043e000100|1|false|131|rs74475385|] -chr1 1120489 exm2249617 G A . PASS FUNCOTATION=[TTLL10|hg19|chr1|1120489|1120489|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1120489G>A|ENST00000379290.1|+|13|1574|c.1401G>A|c.(1399-1401)aaG>aaA|p.K467K|0.6309226932668329|CCACCCTCAAGGTGCGTCCAC|TTLL10_ENST00000379289.1_SPLICE_SITE_p.K467K/TTLL10_ENST00000379288.3_SILENT_p.K394K|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|TTLL10:254173|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|142263062|1120489|false|true|0|false|0|true||false|false|false|SNV|true|0x050200000305040436000100|1|false|134|rs142263062|] -chr1 1120489 exm2249617 G A . PASS FUNCOTATION=[TTLL10|hg19|chr1|1120489|1120489|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1120489G>A|ENST00000379290.1|+|13|1574|c.1401G>A|c.(1399-1401)aaG>aaA|p.K467K|0.6309226932668329|CCACCCTCAAGGTGCGTCCAC|TTLL10_ENST00000379289.1_SPLICE_SITE_p.K467K/TTLL10_ENST00000379288.3_SILENT_p.K394K|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|TTLL10:254173|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|142263062|1120489|false|true|0|false|0|true||false|false|false|SNV|true|0x050200000305040436000100|1|false|134|rs142263062|] -chr1 1120494 exm1651 G A . PASS FUNCOTATION=[TTLL10|hg19|chr1|1120494|1120494|INTRON||SNP|G|G|A|g.chr1:1120494G>A|ENST00000379290.1|+|||c.e13+5G>A|||0.6359102244389028|CTCAAGGTGCGTCCACTGTGC|TTLL10_ENST00000379289.1_INTRON/TTLL10_ENST00000379288.3_MISSENSE_p.R396H|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.9972_%2C_0.002796|false|false|1||false|false|false|TTLL10:254173|true|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|74046642|1120494|false|false|0|true|0|false|0.996806_%2C_0.0031939|false|false|false|SNV|true|0x050100080a0504053e000100|1|false|130|rs74046642|] -chr1 1120503 exm1654 G A . PASS FUNCOTATION=[TTLL10|hg19|chr1|1120503|1120503|INTRON||SNP|G|G|A|g.chr1:1120503G>A|ENST00000379290.1|+|||c.e13+14G>A|||0.6309226932668329|CGTCCACTGTGCCCTCCAGTC|TTLL10_ENST00000379289.1_INTRON/TTLL10_ENST00000379288.3_MISSENSE_p.C399Y|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.9784_%2C_0.02157|false|false|1||false|true|false|TTLL10:254173|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|116251234|1120503|false|false|0|true|0|false|0.972113_%2C_0.0278865|false|false|false|SNV|true|0x050100080a0515043e000100|1|false|132|rs116251234|] -chr1 1120536 psy_rs77950429 G A . PASS FUNCOTATION=[TTLL10|hg19|chr1|1120536|1120536|INTRON||SNP|G|G|A|g.chr1:1120536G>A|ENST00000379290.1|+|||c.e13+47G>A|||0.6384039900249376|CCCTCGGGGCGGGGGTGTGTG|TTLL10_ENST00000379289.1_INTRON/TTLL10_ENST00000379288.3_THREE_PRIME_UTR|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.9483_%2C_0.05172|false|false|1||false|true|false|TTLL10:254173|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|77950429|1120536|false|false|0|true|0|false|0.976578_%2C_0.0234219|false|true|false|SNV|true|0x050100880005150536000100|1|false|131|rs77950429|] -chr1 1121794 rs11260549 G A . PASS FUNCOTATION=[TTLL10|hg19|chr1|1121794|1121794|INTRON||SNP|G|G|A|g.chr1:1121794G>A|ENST00000379290.1|+|||c.e13+1305G>A|||0.46633416458852867|ACAACGTTCCGTCATATGGAT|TTLL10_ENST00000379289.1_INTRON|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.7434_%2C_0.2566|false|false|1||false|true|false|TTLL10:254173|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|11260549|1121794|false|false|0|true|0|false|0.884917_%2C_0.115083|false|false|false|SNV|true|0x050128080005150537000100|1|false|120|rs11260549|] -chr1 1130727 rs10907175 A C . PASS FUNCOTATION=[TTLL10|hg19|chr1|1130727|1130727|INTRON||SNP|A|A|C|g.chr1:1130727A>C|ENST00000379290.1|+|||c.e14-1253A>C|||0.38403990024937656|ATCTGCAAACAATTCAAATCT|TTLL10_ENST00000379289.1_INTRON|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.8956_%2C_0.1044|false|false|1||false|true|false|TTLL10:254173|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10907175|1130727|false|false|0|true|0|false|0.898104_%2C_0.101896|false|false|false|SNV|true|0x05010008000515053f000101|1|false|120|rs10907175|] -chr1 1138913 rs3819001 T C . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1138913|1138913|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:1138913T>C|ENST00000379268.2|-|5|||||0.6783042394014963|TTATTGAAGGTCCCCTGCAGC|TNFRSF18_ENST00000328596.6_THREE_PRIME_UTR|GBM(157_%3B_472_%20_1934_%20_13810_%20_14591_%20_35952)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_148902.1|NP_683700.1|HGNC:11914|TNF_%20_receptor_%20_superfamily_%20_member_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_18"|AITR_%2C__%20_GITR_%2C__%20_CD357||1p36.33|2016-10-05||2016-06-28|AF125304||8784|ENSG00000186891|9177197_%2C__%20_10037686|NM_004195|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS9_%2C__%20_CCDS10_%2C__%20_CCDS30552|OTTHUMG00000001414|8784|603905|NM_004195|Q9Y5U5|ENSG00000186891|uc001add.4|TNR18_HUMAN||B1AME1_%7C_O95851_%7C_Q5U0I4_%7C_Q9NYJ9|Q9Y5U5|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)||||true|false|0.8015_%2C_0.1985|false|false|1||false|true|false|TNFRSF18:8784|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3819001|1138913|true|false|0|true|0|false|0.781922_%2C_0.218078|false|true|false|SNV|true|0x05010080000515053f000100|1|false|107|rs3819001|] -chr1 1139062 exm1677 G A . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1139062|1139062|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:1139062G>A|ENST00000379268.2|-|5|||||0.685785536159601|CGCGGCCGCCGAACTGCATGG|TNFRSF18_ENST00000328596.6_MISSENSE_p.S226L|GBM(157_%3B_472_%20_1934_%20_13810_%20_14591_%20_35952)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_148902.1|NP_683700.1|HGNC:11914|TNF_%20_receptor_%20_superfamily_%20_member_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_18"|AITR_%2C__%20_GITR_%2C__%20_CD357||1p36.33|2016-10-05||2016-06-28|AF125304||8784|ENSG00000186891|9177197_%2C__%20_10037686|NM_004195|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS9_%2C__%20_CCDS10_%2C__%20_CCDS30552|OTTHUMG00000001414|8784|603905|NM_004195|Q9Y5U5|ENSG00000186891|uc001add.4|TNR18_HUMAN||B1AME1_%7C_O95851_%7C_Q5U0I4_%7C_Q9NYJ9|Q9Y5U5|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|TNFRSF18:8784|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200799216|1139062|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|true|false|SNV|true|0x050000800a05040436000100|1|false|137|rs200799216|] -chr1 1139268 exm1688 G A . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1139268|1139268|NONSENSE||SNP|G|G|A|g.chr1:1139268G>A|ENST00000379268.2|-|5|802|c.682C>T|c.(682-684)Cga>Tga|p.R228*|0.7007481296758105|TCTGCCGATCGCTCGCCCCGC|TNFRSF18_ENST00000379265.5_NONSENSE_p.R221*/TNFRSF18_ENST00000486728.1_NONSENSE_p.R156*/TNFRSF18_ENST00000328596.6_SILENT_p.S157S|GBM(157_%3B_472_%20_1934_%20_13810_%20_14591_%20_35952)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_148902.1|NP_683700.1|HGNC:11914|TNF_%20_receptor_%20_superfamily_%20_member_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_18"|AITR_%2C__%20_GITR_%2C__%20_CD357||1p36.33|2016-10-05||2016-06-28|AF125304||8784|ENSG00000186891|9177197_%2C__%20_10037686|NM_004195|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS9_%2C__%20_CCDS10_%2C__%20_CCDS30552|OTTHUMG00000001414|8784|603905|NM_004195|Q9Y5U5|ENSG00000186891|uc001add.4|TNR18_HUMAN||B1AME1_%7C_O95851_%7C_Q5U0I4_%7C_Q9NYJ9|Q9Y5U5|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)||||true|false||false|false|||false|false|false|TNFRSF18:8784|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|142584447|1139268|false|false|0|false|0|true|0.999107_%2C_0.000892918|false|false|false|SNV|true|0x050000000705040402000100|1|false|134|rs142584447|] -chr1 1139287 exm1692 G A . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1139287|1139287|SILENT||SNP|G|G|A|g.chr1:1139287G>A|ENST00000379268.2|-|5|783|c.663C>T|c.(661-663)ccC>ccT|p.P221P|0.7007481296758105|GCTCTTCCTCGGGGAACTGGC|TNFRSF18_ENST00000379265.5_SILENT_p.P214P/TNFRSF18_ENST00000328596.6_MISSENSE_p.P151L/TNFRSF18_ENST00000486728.1_SILENT_p.P149P|GBM(157_%3B_472_%20_1934_%20_13810_%20_14591_%20_35952)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_148902.1|NP_683700.1|HGNC:11914|TNF_%20_receptor_%20_superfamily_%20_member_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_18"|AITR_%2C__%20_GITR_%2C__%20_CD357||1p36.33|2016-10-05||2016-06-28|AF125304||8784|ENSG00000186891|9177197_%2C__%20_10037686|NM_004195|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS9_%2C__%20_CCDS10_%2C__%20_CCDS30552|OTTHUMG00000001414|8784|603905|NM_004195|Q9Y5U5|ENSG00000186891|uc001add.4|TNR18_HUMAN||B1AME1_%7C_O95851_%7C_Q5U0I4_%7C_Q9NYJ9|Q9Y5U5|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)||||true|false|0.9986_%2C_0.001398_%2C_._%2C_.|false|false|1||false|false|false|TNFRSF18:8784|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199916456|1139287|false|false|0|false|0|true|0.999863_%2C_0.000103029_%2C_3.4343e-005_%2C_.|false|false|false|SNV|true|0x050000000b05040436000100|1|false|137|rs199916456|] -chr1 1139308 exm1693 G A . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1139308|1139308|SILENT||SNP|G|G|A|g.chr1:1139308G>A|ENST00000379268.2|-|5|762|c.642C>T|c.(640-642)gaC>gaT|p.D214D|0.7082294264339152|AGCTTCTGGCGTCTTCGGTCG|TNFRSF18_ENST00000379265.5_SILENT_p.D207D/TNFRSF18_ENST00000328596.6_MISSENSE_p.T144M/TNFRSF18_ENST00000486728.1_SILENT_p.D142D|GBM(157_%3B_472_%20_1934_%20_13810_%20_14591_%20_35952)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_148902.1|NP_683700.1|HGNC:11914|TNF_%20_receptor_%20_superfamily_%20_member_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_18"|AITR_%2C__%20_GITR_%2C__%20_CD357||1p36.33|2016-10-05||2016-06-28|AF125304||8784|ENSG00000186891|9177197_%2C__%20_10037686|NM_004195|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS9_%2C__%20_CCDS10_%2C__%20_CCDS30552|OTTHUMG00000001414|8784|603905|NM_004195|Q9Y5U5|ENSG00000186891|uc001add.4|TNR18_HUMAN||B1AME1_%7C_O95851_%7C_Q5U0I4_%7C_Q9NYJ9|Q9Y5U5|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)||||true|false|0.9992_%2C_0.0007987_%2C_.|false|false|0||false|false|false|TNFRSF18:8784|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201894449|1139308|false|false|0|false|0|true|0.999863_%2C_0.000137372_%2C_.|false|false|false|SNV|true|0x050000000b05040426000100|1|false|137|rs201894449|] -chr1 1139320 exm1695 C T . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1139320|1139320|SILENT||SNP|C|C|T|g.chr1:1139320C>T|ENST00000379268.2|-|5|750|c.630G>A|c.(628-630)ccG>ccA|p.P210P|0.7107231920199502|CTTCGGTCGACGGCGGCACCT|TNFRSF18_ENST00000379265.5_SILENT_p.P203P/TNFRSF18_ENST00000328596.6_MISSENSE_p.R140H/TNFRSF18_ENST00000486728.1_SILENT_p.P138P|GBM(157_%3B_472_%20_1934_%20_13810_%20_14591_%20_35952)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_148902.1|NP_683700.1|HGNC:11914|TNF_%20_receptor_%20_superfamily_%20_member_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_18"|AITR_%2C__%20_GITR_%2C__%20_CD357||1p36.33|2016-10-05||2016-06-28|AF125304||8784|ENSG00000186891|9177197_%2C__%20_10037686|NM_004195|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS9_%2C__%20_CCDS10_%2C__%20_CCDS30552|OTTHUMG00000001414|8784|603905|NM_004195|Q9Y5U5|ENSG00000186891|uc001add.4|TNR18_HUMAN||B1AME1_%7C_O95851_%7C_Q5U0I4_%7C_Q9NYJ9|Q9Y5U5|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|TNFRSF18:8784|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200096730|1139320|false|false|0|false|0|true|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000b05040426000100|1|false|137|rs200096730|] -chr1 1141765 exm1730 C T . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1141765|1141765|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:1141765C>T|ENST00000379268.2|-|1|307|c.187G>A|c.(187-189)Ggc>Agc|p.G63S|0.7107231920199502|GTTTACTTACCCGGGTAATCG|TNFRSF18_ENST00000379265.5_SPLICE_SITE_p.G63S/TNFRSF18_ENST00000328596.6_SPLICE_SITE_p.G63S/TNFRSF18_ENST00000486728.1_FIVE_PRIME_FLANK|GBM(157_%3B_472_%20_1934_%20_13810_%20_14591_%20_35952)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_148902.1|NP_683700.1|HGNC:11914|TNF_%20_receptor_%20_superfamily_%20_member_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_18"|AITR_%2C__%20_GITR_%2C__%20_CD357||1p36.33|2016-10-05||2016-06-28|AF125304||8784|ENSG00000186891|9177197_%2C__%20_10037686|NM_004195|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS9_%2C__%20_CCDS10_%2C__%20_CCDS30552|OTTHUMG00000001414|8784|603905|NM_004195|Q9Y5U5|ENSG00000186891|uc001add.4|TNR18_HUMAN||B1AME1_%7C_O95851_%7C_Q5U0I4_%7C_Q9NYJ9|Q9Y5U5|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)||||true|false|0.9976_%2C_0.002396|false|false|1||false|false|false|TNFRSF18:8784|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|72894038|1141765|false|false|0|false|0|false|0.99684_%2C_0.00315956|false|false|false|SNV|true|0x050000000a0504053e000100|1|false|130|rs72894038|] -chr1 1153073 exm1702568 G A . PASS FUNCOTATION=[SDF4|hg19|chr1|1153073|1153073|INTRON||SNP|G|G|A|g.chr1:1153073G>A|ENST00000360001.6|-|||c.e7+5C>T|||0.6583541147132169|GTAGCTCTGCGGGCGAGCGGG|SDF4_ENST00000263741.7_MISSENSE_p.R342C/TNFRSF4_ENST00000379236.3_FIVE_PRIME_FLANK/TNFRSF4_ENST00000453580.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||L79912|||HGNC:24188|stromal_%20_cell_%20_derived_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Cab45|"calcium_%20_binding_%20_protein"|1p36.33|2014-11-19|||||51150|ENSG00000078808|9254016_%2C__%20_8609160|NM_016176|863|EF-hand_%20_domain_%20_containing|CCDS12_%2C__%20_CCDS30553|OTTHUMG00000001812|51150|614282|NM_016176|Q9BRK5|ENSG00000078808|uc001adi.5|CAB45_HUMAN||B1AME5_%7C_B1AME6_%7C_B2RDF1_%7C_B4DSM1_%7C_Q53G52_%7C_Q53HQ9_%7C_Q8NBQ3_%7C_Q96AA1_%7C_Q9NZP7_%7C_Q9UN53|Q9BRK5|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_cerebellum_%20_development_%20_(GO:0021549)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_UV_%20_protection_%20_(GO:0009650)_%7C_zymogen_%20_granule_%20_exocytosis_%20_(GO:0070625)|cell_%20_projection_%20_(GO:0042995)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|SDF4:51150|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199825378|1153073|false|false|0|true|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050100080a05040436000100|1|false|137|rs199825378|] -chr1 1153099 exm1829 G A . PASS FUNCOTATION=[SDF4|hg19|chr1|1153099|1153099|INTRON||SNP|G|G|A|g.chr1:1153099G>A|ENST00000360001.6|-|||c.e7+31C>T|||0.6483790523690773|GGTCAGCGTCGCCTTTCCCCC|SDF4_ENST00000263741.7_MISSENSE_p.A333V/TNFRSF4_ENST00000379236.3_FIVE_PRIME_FLANK/TNFRSF4_ENST00000453580.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||L79912|||HGNC:24188|stromal_%20_cell_%20_derived_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Cab45|"calcium_%20_binding_%20_protein"|1p36.33|2014-11-19|||||51150|ENSG00000078808|9254016_%2C__%20_8609160|NM_016176|863|EF-hand_%20_domain_%20_containing|CCDS12_%2C__%20_CCDS30553|OTTHUMG00000001812|51150|614282|NM_016176|Q9BRK5|ENSG00000078808|uc001adi.5|CAB45_HUMAN||B1AME5_%7C_B1AME6_%7C_B2RDF1_%7C_B4DSM1_%7C_Q53G52_%7C_Q53HQ9_%7C_Q8NBQ3_%7C_Q96AA1_%7C_Q9NZP7_%7C_Q9UN53|Q9BRK5|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_cerebellum_%20_development_%20_(GO:0021549)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_UV_%20_protection_%20_(GO:0009650)_%7C_zymogen_%20_granule_%20_exocytosis_%20_(GO:0070625)|cell_%20_projection_%20_(GO:0042995)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|SDF4:51150|false|true|true|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|139298872|1153099|false|false|0|false|0|false|0.999073_%2C_0.000927261|false|false|false|SNV|true|0x050000080a05040426000100|1|false|134|rs139298872|] -chr1 1153129 exm1832 C T . PASS FUNCOTATION=[SDF4|hg19|chr1|1153129|1153129|INTRON||SNP|C|C|T|g.chr1:1153129C>T|ENST00000360001.6|-|||c.e7+61G>A|||0.6408977556109726|CGCGGCCAGCCGCACGAAGTG|SDF4_ENST00000263741.7_MISSENSE_p.R323Q/TNFRSF4_ENST00000379236.3_FIVE_PRIME_FLANK/TNFRSF4_ENST00000453580.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||L79912|||HGNC:24188|stromal_%20_cell_%20_derived_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Cab45|"calcium_%20_binding_%20_protein"|1p36.33|2014-11-19|||||51150|ENSG00000078808|9254016_%2C__%20_8609160|NM_016176|863|EF-hand_%20_domain_%20_containing|CCDS12_%2C__%20_CCDS30553|OTTHUMG00000001812|51150|614282|NM_016176|Q9BRK5|ENSG00000078808|uc001adi.5|CAB45_HUMAN||B1AME5_%7C_B1AME6_%7C_B2RDF1_%7C_B4DSM1_%7C_Q53G52_%7C_Q53HQ9_%7C_Q8NBQ3_%7C_Q96AA1_%7C_Q9NZP7_%7C_Q9UN53|Q9BRK5|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_cerebellum_%20_development_%20_(GO:0021549)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_UV_%20_protection_%20_(GO:0009650)_%7C_zymogen_%20_granule_%20_exocytosis_%20_(GO:0070625)|cell_%20_projection_%20_(GO:0042995)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||true|false|0.9946_%2C_0.005391|false|false|1||false|false|false|SDF4:51150|true|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|72894044|1153129|false|false|0|true|0|false|0.993028_%2C_0.00697163|false|false|false|SNV|true|0x050100080a0504053e000100|1|false|130|rs72894044|] -chr1 1158277 rs3813199 G A . PASS FUNCOTATION=[SDF4|hg19|chr1|1158277|1158277|INTRON||SNP|G|G|A|g.chr1:1158277G>A|ENST00000360001.6|-|||c.e4-347C>T|||0.5860349127182045|ATGTACTCACGAGCCTACATG|SDF4_ENST00000263741.7_INTRON/SDF4_ENST00000545427.1_INTRON|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||L79912|||HGNC:24188|stromal_%20_cell_%20_derived_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Cab45|"calcium_%20_binding_%20_protein"|1p36.33|2014-11-19|||||51150|ENSG00000078808|9254016_%2C__%20_8609160|NM_016176|863|EF-hand_%20_domain_%20_containing|CCDS12_%2C__%20_CCDS30553|OTTHUMG00000001812|51150|614282|NM_016176|Q9BRK5|ENSG00000078808|uc001adi.5|CAB45_HUMAN||B1AME5_%7C_B1AME6_%7C_B2RDF1_%7C_B4DSM1_%7C_Q53G52_%7C_Q53HQ9_%7C_Q8NBQ3_%7C_Q96AA1_%7C_Q9NZP7_%7C_Q9UN53|Q9BRK5|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_cerebellum_%20_development_%20_(GO:0021549)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_UV_%20_protection_%20_(GO:0009650)_%7C_zymogen_%20_granule_%20_exocytosis_%20_(GO:0070625)|cell_%20_projection_%20_(GO:0042995)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||true|false|0.8758_%2C_0.1242|false|false|1||false|true|false|SDF4:51150|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|3813199|1158277|true|false|0|true|0|false|0.871042_%2C_0.128958|false|false|false|SNV|true|0x05012808000515053f000100|1|false|107|rs3813199|] -chr1 1159213 exm1864 G A . PASS FUNCOTATION=[SDF4|hg19|chr1|1159213|1159213|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1159213G>A|ENST00000360001.6|-|3|725|c.462C>T|c.(460-462)gaC>gaT|p.D154D|0.6608478802992519|CCACAGTACCGTCCCCGTCAG|SDF4_ENST00000263741.7_SPLICE_SITE_p.D154D/SDF4_ENST00000545427.1_SPLICE_SITE_p.D154D|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||L79912|||HGNC:24188|stromal_%20_cell_%20_derived_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Cab45|"calcium_%20_binding_%20_protein"|1p36.33|2014-11-19|||||51150|ENSG00000078808|9254016_%2C__%20_8609160|NM_016176|863|EF-hand_%20_domain_%20_containing|CCDS12_%2C__%20_CCDS30553|OTTHUMG00000001812|51150|614282|NM_016176|Q9BRK5|ENSG00000078808|uc001adi.5|CAB45_HUMAN||B1AME5_%7C_B1AME6_%7C_B2RDF1_%7C_B4DSM1_%7C_Q53G52_%7C_Q53HQ9_%7C_Q8NBQ3_%7C_Q96AA1_%7C_Q9NZP7_%7C_Q9UN53|Q9BRK5|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_cerebellum_%20_development_%20_(GO:0021549)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_UV_%20_protection_%20_(GO:0009650)_%7C_zymogen_%20_granule_%20_exocytosis_%20_(GO:0070625)|cell_%20_projection_%20_(GO:0042995)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|SDF4:51150|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|149289348|1159213|false|false|0|false|0|true|0.999141_%2C_0.000858575|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs149289348|] -chr1 1159213 exm1864 G A . PASS FUNCOTATION=[SDF4|hg19|chr1|1159213|1159213|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1159213G>A|ENST00000360001.6|-|3|725|c.462C>T|c.(460-462)gaC>gaT|p.D154D|0.6608478802992519|CCACAGTACCGTCCCCGTCAG|SDF4_ENST00000263741.7_SPLICE_SITE_p.D154D/SDF4_ENST00000545427.1_SPLICE_SITE_p.D154D|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||L79912|||HGNC:24188|stromal_%20_cell_%20_derived_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Cab45|"calcium_%20_binding_%20_protein"|1p36.33|2014-11-19|||||51150|ENSG00000078808|9254016_%2C__%20_8609160|NM_016176|863|EF-hand_%20_domain_%20_containing|CCDS12_%2C__%20_CCDS30553|OTTHUMG00000001812|51150|614282|NM_016176|Q9BRK5|ENSG00000078808|uc001adi.5|CAB45_HUMAN||B1AME5_%7C_B1AME6_%7C_B2RDF1_%7C_B4DSM1_%7C_Q53G52_%7C_Q53HQ9_%7C_Q8NBQ3_%7C_Q96AA1_%7C_Q9NZP7_%7C_Q9UN53|Q9BRK5|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_cerebellum_%20_development_%20_(GO:0021549)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_UV_%20_protection_%20_(GO:0009650)_%7C_zymogen_%20_granule_%20_exocytosis_%20_(GO:0070625)|cell_%20_projection_%20_(GO:0042995)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|SDF4:51150|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|149289348|1159213|false|false|0|false|0|true|0.999141_%2C_0.000858575|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs149289348|] -chr1 1163804 rs7515488 C T . PASS FUNCOTATION=[SDF4|hg19|chr1|1163804|1163804|INTRON||SNP|C|C|T|g.chr1:1163804C>T|ENST00000360001.6|-|||c.e2-44G>A|||0.6783042394014963|CACAGGCGAGCGCACGCGGAC|SDF4_ENST00000263741.7_INTRON/SDF4_ENST00000545427.1_INTRON/B3GALT6_ENST00000379198.2_FIVE_PRIME_FLANK/SDF4_ENST00000459994.2_INTRON|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||L79912|||HGNC:24188|stromal_%20_cell_%20_derived_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Cab45|"calcium_%20_binding_%20_protein"|1p36.33|2014-11-19|||||51150|ENSG00000078808|9254016_%2C__%20_8609160|NM_016176|863|EF-hand_%20_domain_%20_containing|CCDS12_%2C__%20_CCDS30553|OTTHUMG00000001812|51150|614282|NM_016176|Q9BRK5|ENSG00000078808|uc001adi.5|CAB45_HUMAN||B1AME5_%7C_B1AME6_%7C_B2RDF1_%7C_B4DSM1_%7C_Q53G52_%7C_Q53HQ9_%7C_Q8NBQ3_%7C_Q96AA1_%7C_Q9NZP7_%7C_Q9UN53|Q9BRK5|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_cerebellum_%20_development_%20_(GO:0021549)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_UV_%20_protection_%20_(GO:0009650)_%7C_zymogen_%20_granule_%20_exocytosis_%20_(GO:0070625)|cell_%20_projection_%20_(GO:0042995)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||true|false|0.8131_%2C_0.1869|false|false|1||false|true|true|SDF4:51150|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|7515488|1163804|false|false|0|true|0|false|0.830792_%2C_0.169208|false|false|false|SNV|true|0x05012808000517053f000100|1|false|116|rs7515488|] -chr1 1178442 exm1949 G A . PASS FUNCOTATION=[FAM132A|hg19|chr1|1178442|1178442|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1178442G>A|ENST00000330388.2|-|6|763|c.731C>T|c.(730-732)aCg>aTg|p.T244M|0.6882793017456359|GGTCACTCACGTGTGGCGCTG||||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC089443|NM_001014980.2|NP_001014980.1||||||||||||||||||||||||||||||ADIPL_HUMAN||Q5EBL5|Q5T7M4|negative_%20_regulation_%20_of_%20_gluconeogenesis_%20_(GO:0045721)_%7C_negative_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050728)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_secretion_%20_involved_%20_in_%20_cellular_%20_response_%20_to_%20_glucose_%20_stimulus_%20_(GO:0035774)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051897)_%7C_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046324)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|hormone_%20_activity_%20_(GO:0005179)||||true|false||false|false|||false|false|false|FAM132A:388581|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149401953|1178442|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000a05000402000100|1|false|134|rs149401953|] -chr1 1178848 exm1965 G A . PASS FUNCOTATION=[FAM132A|hg19|chr1|1178848|1178848|NONSENSE||SNP|G|G|A|g.chr1:1178848G>A|ENST00000330388.2|-|5|648|c.616C>T|c.(616-618)Cag>Tag|p.Q206*|0.71571072319202|GCAGAGAACTGGAAGATGCCG||||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC089443|NM_001014980.2|NP_001014980.1||||||||||||||||||||||||||||||ADIPL_HUMAN||Q5EBL5|Q5T7M4|negative_%20_regulation_%20_of_%20_gluconeogenesis_%20_(GO:0045721)_%7C_negative_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050728)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_secretion_%20_involved_%20_in_%20_cellular_%20_response_%20_to_%20_glucose_%20_stimulus_%20_(GO:0035774)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051897)_%7C_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046324)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|hormone_%20_activity_%20_(GO:0005179)||||true|false|0.9968_%2C_0.003195|false|false|1||false|false|false|FAM132A:388581|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|115005664|1178848|false|false|0|false|0|false|0.993474_%2C_0.00652562|false|false|false|SNV|true|0x050000000605040436000100|1|false|132|rs115005664|] -chr1 1179619 exm1987 C A . PASS FUNCOTATION=[FAM132A|hg19|chr1|1179619|1179619|NONSENSE||SNP|C|C|A|g.chr1:1179619C>A|ENST00000330388.2|-|3|363|c.331G>T|c.(331-333)Gaa>Taa|p.E111*|0.6982543640897756|GCGGTCACTTCTGCACCTGGA||||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC089443|NM_001014980.2|NP_001014980.1||||||||||||||||||||||||||||||ADIPL_HUMAN||Q5EBL5|Q5T7M4|negative_%20_regulation_%20_of_%20_gluconeogenesis_%20_(GO:0045721)_%7C_negative_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050728)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_secretion_%20_involved_%20_in_%20_cellular_%20_response_%20_to_%20_glucose_%20_stimulus_%20_(GO:0035774)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051897)_%7C_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046324)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|hormone_%20_activity_%20_(GO:0005179)||||true|false||false|false|||false|false|false|FAM132A:388581|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|201741650|1179619|false|false|0|false|0|false|0.999966_%2C_3.43454e-005|false|false|false|SNV|true|0x050000000605040402000100|1|false|137|rs201741650|] -chr1 1179762 exm1992 G A . PASS FUNCOTATION=[FAM132A|hg19|chr1|1179762|1179762|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1179762G>A|ENST00000330388.2|-|2|325|c.293C>T|c.(292-294)cCg>cTg|p.P98L|0.6708229426433915|GGGGCTCACCGGCTTCTTGTC||||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC089443|NM_001014980.2|NP_001014980.1||||||||||||||||||||||||||||||ADIPL_HUMAN||Q5EBL5|Q5T7M4|negative_%20_regulation_%20_of_%20_gluconeogenesis_%20_(GO:0045721)_%7C_negative_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050728)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_secretion_%20_involved_%20_in_%20_cellular_%20_response_%20_to_%20_glucose_%20_stimulus_%20_(GO:0035774)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051897)_%7C_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046324)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|hormone_%20_activity_%20_(GO:0005179)||||true|false||false|false|||false|false|false|FAM132A:388581|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149663992|1179762|false|false|0|false|0|false|0.999966_%2C_3.43454e-005|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs149663992|] -chr1 1203938 rs4018608 T C . PASS FUNCOTATION=[UBE2J2|hg19|chr1|1203938|1203938|INTRON||SNP|T|T|C|g.chr1:1203938T>C|ENST00000400930.4|-|||c.e2+566A>G|||0.5985037406483791|AGGCACTCACTGGGCAGAGCA|UBE2J2_ENST00000349431.6_INTRON/UBE2J2_ENST00000400929.2_INTRON/UBE2J2_ENST00000360466.2_INTRON/UBE2J2_ENST00000347370.2_INTRON/UBE2J2_ENST00000348298.7_INTRON/UBE2J2_ENST00000339385.6_FIVE_PRIME_FLANK/UBE2J2_ENST00000491779.1_INTRON|||||||||||||||||||||||||178|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_194315.1|NP_919296.1|HGNC:19268|ubiquitin_%20_conjugating_%20_enzyme_%20_E2_%20_J2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ubiquitin-conjugating_%20_enzyme_%20_E2_%2C__%20_J2_%20_(UBC6_%20_homolog_%2C__%20_yeast)"_%2C__%20_"ubiquitin-conjugating_%20_enzyme_%20_E2_%2C__%20_J2"|Ubc6p_%2C__%20_NCUBE2||1p36.33|2016-03-14||2016-03-14|AF296658||118424|ENSG00000160087|11278356|NM_058167|102|Ubiquitin_%20_conjugating_%20_enzymes_%20_E2|CCDS14_%2C__%20_CCDS15_%2C__%20_CCDS16|OTTHUMG00000001911|118424||NM_058167|Q8N2K1|ENSG00000160087|uc001adp.4|UB2J2_HUMAN||A8MYC7_%7C_Q504T9_%7C_Q96N26_%7C_Q96T84|Q8N2K1|protein_%20_ubiquitination_%20_(GO:0016567)_%7C_response_%20_to_%20_unfolded_%20_protein_%20_(GO:0006986)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|acid-amino_%20_acid_%20_ligase_%20_activity_%20_(GO:0016881)_%7C_ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1211292 exm-rs6685064 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1211292|1211292|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:1211292C>T|ENST00000338555.2|+||||||0.44389027431421446|ATGTTATAGGCAGATTCAAAA|UBE2J2_ENST00000347370.2_FIVE_PRIME_FLANK/UBE2J2_ENST00000348298.7_FIVE_PRIME_FLANK/UBE2J2_ENST00000349431.6_FIVE_PRIME_FLANK/UBE2J2_ENST00000360466.2_FIVE_PRIME_FLANK/SCNN1D_ENST00000379116.5_FIVE_PRIME_FLANK/UBE2J2_ENST00000400929.2_FIVE_PRIME_FLANK/UBE2J2_ENST00000400930.4_FIVE_PRIME_FLANK/RP5-902P8.10_ENST00000453732.1_LINCRNA/UBE2J2_ENST00000491779.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U38254|||HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.5695_%2C_0.4305|false|false|1||false|true|false|LOC101928895:101928895|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6685064|1211292|false|false|0|true|0|false|0.693592_%2C_0.306408|false|false|false|SNV|true|0x05010008000515053f000100|1|false|116|rs6685064|] -chr1 1216848 exm2059 G A . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1216848|1216848|SILENT||SNP|G|G|A|g.chr1:1216848G>A|ENST00000379116.5|+|3|361|c.135G>A|c.(133-135)tcG>tcA|p.S45S|0.6633416458852868|AGCTGGGTTCGCCCCACCCCA|SCNN1D_ENST00000338555.2_FIVE_PRIME_UTR/SCNN1D_ENST00000325425.8_FIVE_PRIME_FLANK/SCNN1D_ENST00000400928.3_FIVE_PRIME_FLANK/SCNN1D_ENST00000467651.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.9928_%2C_0.007188|false|false|1||false|false|false|SCNN1D:6339|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|34385715|1216848|true|false|0|true|0|true|0.9932_%2C_0.00679992|false|false|false|SNV|true|0x050100000305040536000100|1|false|126|rs34385715|] -chr1 1219456 exm2067 G C . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1219456|1219456|SILENT||SNP|G|G|C|g.chr1:1219456G>C|ENST00000379116.5|+|5|676|c.450G>C|c.(448-450)ggG>ggC|p.G150G|0.685785536159601|CACACGGGGGGGCTCTCACCT|SCNN1D_ENST00000338555.2_MISSENSE_p.G18R/SCNN1D_ENST00000325425.8_SILENT_p.G52G/SCNN1D_ENST00000400928.3_MISSENSE_p.G18R/SCNN1D_ENST00000467651.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|SCNN1D:6339|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|199854533|1219456|false|false|0|false|0|true|0.999347_%2C_0.000653101|false|false|false|SNV|true|0x050000000305040426000100|1|false|137|rs199854533|] -chr1 1220954 exm2070 G A . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1220954|1220954|SILENT||SNP|G|G|A|g.chr1:1220954G>A|ENST00000379116.5|+|6|694|c.468G>A|c.(466-468)tcG>tcA|p.S156S|0.6458852867830424|TGGGTAGATCGCCTGGGCCTG|SCNN1D_ENST00000325425.8_SILENT_p.S58S/SCNN1D_ENST00000338555.2_INTRON/SCNN1D_ENST00000400928.3_INTRON/SCNN1D_ENST00000467651.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.5573_%2C_0.4427|false|false|1||false|true|false|SCNN1D:6339|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|12751100|1220954|false|false|0|true|0|true|0.668315_%2C_0.331685|false|false|false|SNV|true|0x05010008030515053e000100|1|false|121|rs12751100|] -chr1 1221530 exm2090 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1221530|1221530|SILENT||SNP|C|C|T|g.chr1:1221530C>T|ENST00000379116.5|+|7|1009|c.783C>T|c.(781-783)gtC>gtT|p.V261V|0.6932668329177057|GAGCCCTGGTCGCGCTCTGCT|SCNN1D_ENST00000338555.2_SILENT_p.V97V/SCNN1D_ENST00000325425.8_SILENT_p.V163V/SCNN1D_ENST00000400928.3_SILENT_p.V97V|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.999_%2C_._%2C_0.0009984|false|false|0||false|false|false|SCNN1D:6339|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|146792102|1221530|false|true|0|false|0|true|0.998798_%2C_._%2C_0.00120209|false|false|false|SNV|true|0x050200000305040436000100|1|false|134|rs146792102|] -chr1 1221657 exm2100 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1221657|1221657|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:1221657C>T|ENST00000379116.5|+|7|1136|c.910C>T|c.(910-912)Cgg>Tgg|p.R304W|0.6907730673316709|GAACCCACGTCGGTGAGGGCC|SCNN1D_ENST00000338555.2_SPLICE_SITE_p.R140W/SCNN1D_ENST00000325425.8_SPLICE_SITE_p.R206W/SCNN1D_ENST00000400928.3_SPLICE_SITE_p.R140W|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.9996_%2C_0.0003994|false|false|1||false|false|false|SCNN1D:6339|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|139294800|1221657|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000a05040426000100|1|false|137|rs139294800|] -chr1 1222220 exm2106 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1222220|1222220|SILENT||SNP|C|C|T|g.chr1:1222220C>T|ENST00000379116.5|+|8|1210|c.984C>T|c.(982-984)aaC>aaT|p.N328N|0.6807980049875312|CCCTGTACAACGTCAACCTCA|SCNN1D_ENST00000338555.2_SILENT_p.N164N/SCNN1D_ENST00000325425.8_SILENT_p.N230N/SCNN1D_ENST00000400928.3_SILENT_p.N164N|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false||false|false|||false|false|false|SCNN1D:6339|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|140233249|1222220|false|true|0|false|0|true|0.999966_%2C_._%2C_3.4343e-005|false|false|false|SNV|true|0x050200000b05040402000100|1|false|134|rs140233249|] -chr1 1222519 exm2129 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1222519|1222519|NONSENSE||SNP|C|C|T|g.chr1:1222519C>T|ENST00000379116.5|+|9|1376|c.1150C>T|c.(1150-1152)Cga>Tga|p.R384*|0.6807980049875312|CTGCTTTTACCGAGGCTACAC|SCNN1D_ENST00000338555.2_NONSENSE_p.R220*/SCNN1D_ENST00000325425.8_NONSENSE_p.R286*/SCNN1D_ENST00000400928.3_NONSENSE_p.R220*|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|SCNN1D:6339|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|148588796|1222519|false|true|0|true|0|false|0.998661_%2C_0.00133938|false|false|false|SNV|true|0x050300000605040436000100|1|false|134|rs148588796|] -chr1 1222596 exm2135 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1222596|1222596|SILENT||SNP|C|C|T|g.chr1:1222596C>T|ENST00000379116.5|+|9|1453|c.1227C>T|c.(1225-1227)ccC>ccT|p.P409P|0.6783042394014963|CCCTGCTGCCCGCGGCATGGG|SCNN1D_ENST00000338555.2_SILENT_p.P245P/SCNN1D_ENST00000325425.8_SILENT_p.P311P/SCNN1D_ENST00000400928.3_SILENT_p.P245P|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false||false|false|||false|false|false|SCNN1D:6339|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|146976973|1222596|false|true|0|false|0|true|0.999038_%2C_0.000961671|false|false|false|SNV|true|0x050200000305040402000100|1|false|134|rs146976973|] -chr1 1226777 exm2258 G A . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1226777|1226777|SILENT||SNP|G|G|A|g.chr1:1226777G>A|ENST00000379116.5|+|18|2422|c.2196G>A|c.(2194-2196)gcG>gcA|p.A732A|0.7082294264339152|TCCGCAGGGCGTGGTTCTCCT|SCNN1D_ENST00000338555.2_SILENT_p.A568A/SCNN1D_ENST00000325425.8_SILENT_p.A634A/SCNN1D_ENST00000400928.3_SILENT_p.A568A|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false||false|false|||false|false|false|SCNN1D:6339|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201221572|1226777|false|false|0|false|0|true|0.99976_%2C_0.000240418|false|false|false|SNV|true|0x050000000305040402000100|1|false|137|rs201221572|] -chr1 1226867 exm2267 G A . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1226867|1226867|SILENT||SNP|G|G|A|g.chr1:1226867G>A|ENST00000379116.5|+|18|2512|c.2286G>A|c.(2284-2286)acG>acA|p.T762T|0.683291770573566|CAGGCGGCACGTCAGATGACC|SCNN1D_ENST00000338555.2_SILENT_p.T598T/SCNN1D_ENST00000325425.8_SILENT_p.T664T/SCNN1D_ENST00000400928.3_SILENT_p.T598T|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|SCNN1D:6339|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|200302126|1226867|false|false|0|false|0|true|0.999622_%2C_0.000377799|false|false|false|SNV|true|0x050000000305040426000100|1|false|137|rs200302126|] -chr1 1227897 rs3737721 A G . PASS FUNCOTATION=[ACAP3|hg19|chr1|1227897|1227897|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:1227897A>G|ENST00000354700.5|-|24|||||0.655860349127182|CTTCAGGGTCACAGGCAGCAG|ACAP3_ENST00000353662.3_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_030649.2|NP_085152.2|HGNC:16754|ArfGAP_%20_with_%20_coiled-coil_%2C__%20_ankyrin_%20_repeat_%20_and_%20_PH_%20_domains_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CENTB5|"centaurin_%2C__%20_beta_%20_5"|KIAA1716||1p36.33|2016-10-05|2008-09-22|2008-09-22|AF411981||116983|ENSG00000131584||NM_030649|403_%7C_682_%7C_395_%7C_1291|Ankyrin_%20_repeat_%20_domain_%20_containing_%7C_Pleckstrin_%20_homology_%20_domain_%20_containing_%7C_ArfGAPs_%7C_BAR-PH_%20_domain_%20_containing|CCDS19|OTTHUMG00000002235|116983||NM_030649|Q96P50|ENSG00000131584|uc001aeb.3|ACAP3_HUMAN||B1AMF5_%7C_Q5TA42_%7C_Q5TA43_%7C_Q86UT3_%7C_Q9BSR9_%7C_Q9C0E7|Q96P50|regulation_%20_of_%20_ARF_%20_GTPase_%20_activity_%20_(GO:0032312)||ARF_%20_GTPase_%20_activator_%20_activity_%20_(GO:0008060)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.772_%2C_0.228|false|false|1||false|true|false|SCNN1D:6339_%7C_ACAP3:116983|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3737721|1227897|true|false|0|true|0|false|0.918916_%2C_0.0810839|false|true|false|SNV|true|0x05010088000515053f000100|1|false|107|rs3737721|] -chr1 1246013 exm2497 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246013|1246013|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246013G>A|ENST00000379031.5|+|||c.e6-1G>A|c.e6-1||0.6109725685785536|TATTTTTCCAGGAAGCTGCGG|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_153339.1|NP_699170.1|HGNC:26914|pseudouridylate_%20_synthase-like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ90811||1p36.33|2015-08-25|||AK027721||126789|ENSG00000169972|12477932|NM_153339|||CCDS20|OTTHUMG00000003361|126789||NM_153339|Q8N0Z8|ENSG00000169972|uc001aed.4|PUSL1_HUMAN||B4DP76_%7C_Q5TA41|Q8N0Z8|pseudouridine_%20_synthesis_%20_(GO:0001522)_%7C_tRNA_%20_processing_%20_(GO:0008033)||pseudouridine_%20_synthase_%20_activity_%20_(GO:0009982)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1246013 exm2497 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246013|1246013|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246013G>A|ENST00000379031.5|+|||c.e6-1G>A|c.e6-1||0.6109725685785536|TATTTTTCCAGGAAGCTGCGG|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_153339.1|NP_699170.1|HGNC:26914|pseudouridylate_%20_synthase-like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ90811||1p36.33|2015-08-25|||AK027721||126789|ENSG00000169972|12477932|NM_153339|||CCDS20|OTTHUMG00000003361|126789||NM_153339|Q8N0Z8|ENSG00000169972|uc001aed.4|PUSL1_HUMAN||B4DP76_%7C_Q5TA41|Q8N0Z8|pseudouridine_%20_synthesis_%20_(GO:0001522)_%7C_tRNA_%20_processing_%20_(GO:0008033)||pseudouridine_%20_synthase_%20_activity_%20_(GO:0009982)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1246013 newrs143765035 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246013|1246013|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246013G>A|ENST00000379031.5|+|||c.e6-1G>A|c.e6-1||0.6109725685785536|TATTTTTCCAGGAAGCTGCGG|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_153339.1|NP_699170.1|HGNC:26914|pseudouridylate_%20_synthase-like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ90811||1p36.33|2015-08-25|||AK027721||126789|ENSG00000169972|12477932|NM_153339|||CCDS20|OTTHUMG00000003361|126789||NM_153339|Q8N0Z8|ENSG00000169972|uc001aed.4|PUSL1_HUMAN||B4DP76_%7C_Q5TA41|Q8N0Z8|pseudouridine_%20_synthesis_%20_(GO:0001522)_%7C_tRNA_%20_processing_%20_(GO:0008033)||pseudouridine_%20_synthase_%20_activity_%20_(GO:0009982)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1246013 newrs143765035 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246013|1246013|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246013G>A|ENST00000379031.5|+|||c.e6-1G>A|c.e6-1||0.6109725685785536|TATTTTTCCAGGAAGCTGCGG|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_153339.1|NP_699170.1|HGNC:26914|pseudouridylate_%20_synthase-like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ90811||1p36.33|2015-08-25|||AK027721||126789|ENSG00000169972|12477932|NM_153339|||CCDS20|OTTHUMG00000003361|126789||NM_153339|Q8N0Z8|ENSG00000169972|uc001aed.4|PUSL1_HUMAN||B4DP76_%7C_Q5TA41|Q8N0Z8|pseudouridine_%20_synthesis_%20_(GO:0001522)_%7C_tRNA_%20_processing_%20_(GO:0008033)||pseudouridine_%20_synthase_%20_activity_%20_(GO:0009982)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1246068 variant.153 G T . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246068|1246068|SPLICE_SITE|MISSENSE|SNP|G|G|T|g.chr1:1246068G>T|ENST00000379031.5|+|6|776|c.699G>T|c.(697-699)caG>caT|p.Q233H|0.6259351620947631|TGTATAGACAGGTAGGCTCTG|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_153339.1|NP_699170.1|HGNC:26914|pseudouridylate_%20_synthase-like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ90811||1p36.33|2015-08-25|||AK027721||126789|ENSG00000169972|12477932|NM_153339|||CCDS20|OTTHUMG00000003361|126789||NM_153339|Q8N0Z8|ENSG00000169972|uc001aed.4|PUSL1_HUMAN||B4DP76_%7C_Q5TA41|Q8N0Z8|pseudouridine_%20_synthesis_%20_(GO:0001522)_%7C_tRNA_%20_processing_%20_(GO:0008033)||pseudouridine_%20_synthase_%20_activity_%20_(GO:0009982)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1246069 variant.154 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246069|1246069|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246069G>A|ENST00000379031.5|+|||c.e6+1G>A|c.e6+1||0.6259351620947631|GTATAGACAGGTAGGCTCTGT|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_153339.1|NP_699170.1|HGNC:26914|pseudouridylate_%20_synthase-like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ90811||1p36.33|2015-08-25|||AK027721||126789|ENSG00000169972|12477932|NM_153339|||CCDS20|OTTHUMG00000003361|126789||NM_153339|Q8N0Z8|ENSG00000169972|uc001aed.4|PUSL1_HUMAN||B4DP76_%7C_Q5TA41|Q8N0Z8|pseudouridine_%20_synthesis_%20_(GO:0001522)_%7C_tRNA_%20_processing_%20_(GO:0008033)||pseudouridine_%20_synthase_%20_activity_%20_(GO:0009982)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1246069 variant.154 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246069|1246069|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246069G>A|ENST00000379031.5|+|||c.e6+1G>A|c.e6+1||0.6259351620947631|GTATAGACAGGTAGGCTCTGT|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_153339.1|NP_699170.1|HGNC:26914|pseudouridylate_%20_synthase-like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ90811||1p36.33|2015-08-25|||AK027721||126789|ENSG00000169972|12477932|NM_153339|||CCDS20|OTTHUMG00000003361|126789||NM_153339|Q8N0Z8|ENSG00000169972|uc001aed.4|PUSL1_HUMAN||B4DP76_%7C_Q5TA41|Q8N0Z8|pseudouridine_%20_synthesis_%20_(GO:0001522)_%7C_tRNA_%20_processing_%20_(GO:0008033)||pseudouridine_%20_synthase_%20_activity_%20_(GO:0009982)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1246450 exm2520 C T . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246450|1246450|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1246450C>T|ENST00000379031.5|+|7|938|c.861C>T|c.(859-861)ctC>ctT|p.L287L|0.655860349127182|ACGGGAACCTCGGTAAGAAAA|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_153339.1|NP_699170.1|HGNC:26914|pseudouridylate_%20_synthase-like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ90811||1p36.33|2015-08-25|||AK027721||126789|ENSG00000169972|12477932|NM_153339|||CCDS20|OTTHUMG00000003361|126789||NM_153339|Q8N0Z8|ENSG00000169972|uc001aed.4|PUSL1_HUMAN||B4DP76_%7C_Q5TA41|Q8N0Z8|pseudouridine_%20_synthesis_%20_(GO:0001522)_%7C_tRNA_%20_processing_%20_(GO:0008033)||pseudouridine_%20_synthase_%20_activity_%20_(GO:0009982)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1246450 exm2520 C T . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246450|1246450|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1246450C>T|ENST00000379031.5|+|7|938|c.861C>T|c.(859-861)ctC>ctT|p.L287L|0.655860349127182|ACGGGAACCTCGGTAAGAAAA|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_153339.1|NP_699170.1|HGNC:26914|pseudouridylate_%20_synthase-like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ90811||1p36.33|2015-08-25|||AK027721||126789|ENSG00000169972|12477932|NM_153339|||CCDS20|OTTHUMG00000003361|126789||NM_153339|Q8N0Z8|ENSG00000169972|uc001aed.4|PUSL1_HUMAN||B4DP76_%7C_Q5TA41|Q8N0Z8|pseudouridine_%20_synthesis_%20_(GO:0001522)_%7C_tRNA_%20_processing_%20_(GO:0008033)||pseudouridine_%20_synthase_%20_activity_%20_(GO:0009982)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1246451 newrs140444081 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246451|1246451|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1246451G>A|ENST00000379031.5|+|7|939|c.862G>A|c.(862-864)Ggt>Agt|p.G288S|0.6533665835411472|CGGGAACCTCGGTAAGAAAAA|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_153339.1|NP_699170.1|HGNC:26914|pseudouridylate_%20_synthase-like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ90811||1p36.33|2015-08-25|||AK027721||126789|ENSG00000169972|12477932|NM_153339|||CCDS20|OTTHUMG00000003361|126789||NM_153339|Q8N0Z8|ENSG00000169972|uc001aed.4|PUSL1_HUMAN||B4DP76_%7C_Q5TA41|Q8N0Z8|pseudouridine_%20_synthesis_%20_(GO:0001522)_%7C_tRNA_%20_processing_%20_(GO:0008033)||pseudouridine_%20_synthase_%20_activity_%20_(GO:0009982)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1247626 exm2249776 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1247626|1247626|SILENT||SNP|G|G|A|g.chr1:1247626G>A|ENST00000435064.1|-|15|1670|c.1587C>T|c.(1585-1587)cgC>cgT|p.R529R|0.6783042394014963|GGCTGTAGACGCGCAATGCCG|CPSF3L_ENST00000421495.2_SILENT_p.R271R/CPSF3L_ENST00000450926.2_SILENT_p.R507R/CPSF3L_ENST00000411962.1_SILENT_p.R431R/CPSF3L_ENST00000419704.1_SILENT_p.R428R/CPSF3L_ENST00000540437.1_SILENT_p.R535R/CPSF3L_ENST00000545578.1_SILENT_p.R500R/ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|201688337|1247626|false|false|0|false|0|true||false|false|false|SNV|true|0x050000040305040426000100|1|false|137|rs201688337|] -chr1 1247820 exm2562 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1247820|1247820|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1247820G>A|ENST00000435064.1|-|14|1547|c.1464C>T|c.(1462-1464)agC>agT|p.S488S|0.6708229426433915|TGGCACTCACGCTGTCCTTCA|CPSF3L_ENST00000421495.2_SPLICE_SITE_p.S230S/CPSF3L_ENST00000450926.2_SPLICE_SITE_p.S466S/CPSF3L_ENST00000411962.1_SPLICE_SITE_p.S390S/CPSF3L_ENST00000419704.1_SPLICE_SITE_p.S387S/CPSF3L_ENST00000540437.1_SPLICE_SITE_p.S494S/CPSF3L_ENST00000545578.1_SPLICE_SITE_p.S459S/ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|148274722|1247820|false|false|0|false|0|true|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x0500000c0305040402000100|1|false|134|rs148274722|] -chr1 1247820 exm2562 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1247820|1247820|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1247820G>A|ENST00000435064.1|-|14|1547|c.1464C>T|c.(1462-1464)agC>agT|p.S488S|0.6708229426433915|TGGCACTCACGCTGTCCTTCA|CPSF3L_ENST00000421495.2_SPLICE_SITE_p.S230S/CPSF3L_ENST00000450926.2_SPLICE_SITE_p.S466S/CPSF3L_ENST00000411962.1_SPLICE_SITE_p.S390S/CPSF3L_ENST00000419704.1_SPLICE_SITE_p.S387S/CPSF3L_ENST00000540437.1_SPLICE_SITE_p.S494S/CPSF3L_ENST00000545578.1_SPLICE_SITE_p.S459S/ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|148274722|1247820|false|false|0|false|0|true|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x0500000c0305040402000100|1|false|134|rs148274722|] -chr1 1247826 exm2249777 C T . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1247826|1247826|SILENT||SNP|C|C|T|g.chr1:1247826C>T|ENST00000435064.1|-|14|1541|c.1458G>A|c.(1456-1458)aaG>aaA|p.K486K|0.6733167082294265|TCACGCTGTCCTTCATGATCA|CPSF3L_ENST00000421495.2_SILENT_p.K228K/CPSF3L_ENST00000450926.2_SILENT_p.K464K/CPSF3L_ENST00000411962.1_SILENT_p.K388K/CPSF3L_ENST00000419704.1_SILENT_p.K385K/CPSF3L_ENST00000540437.1_SILENT_p.K492K/CPSF3L_ENST00000545578.1_SILENT_p.K457K/ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|202118836|1247826|false|false|0|false|0|true|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x0500000c0305040402000100|1|false|137|rs202118836|] -chr1 1248046 exm2249779 C T . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1248046|1248046|SILENT||SNP|C|C|T|g.chr1:1248046C>T|ENST00000435064.1|-|13|1412|c.1329G>A|c.(1327-1329)acG>acA|p.T443T|0.6907730673316709|GCAGCGTCACCGTCTCGCCAT|CPSF3L_ENST00000421495.2_SILENT_p.T185T/CPSF3L_ENST00000450926.2_SILENT_p.T421T/CPSF3L_ENST00000411962.1_SILENT_p.T345T/CPSF3L_ENST00000419704.1_SILENT_p.T342T/CPSF3L_ENST00000540437.1_SILENT_p.T449T/CPSF3L_ENST00000545578.1_SILENT_p.T414T/ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|147953341|1248046|false|true|0|false|0|true|0.999554_%2C_0.000446459|false|false|false|SNV|true|0x050200020305040426000100|1|false|134|rs147953341|] -chr1 1248329 exm2590 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1248329|1248329|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1248329G>A|ENST00000435064.1|-|12|1215|c.1132C>T|c.(1132-1134)Ctg>Ttg|p.L378L|0.6683291770573566|TTGACCTCCAGCTACAGAGGC|CPSF3L_ENST00000421495.2_SPLICE_SITE_p.L120L/CPSF3L_ENST00000450926.2_SPLICE_SITE_p.L356L/CPSF3L_ENST00000411962.1_SPLICE_SITE_p.L280L/CPSF3L_ENST00000419704.1_SPLICE_SITE_p.L277L/CPSF3L_ENST00000540437.1_SPLICE_SITE_p.L384L/CPSF3L_ENST00000545578.1_SPLICE_SITE_p.L349L/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false|0.9982_%2C_0.001797|false|false|1||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|56104163|1248329|false|true|0|true|0|true|0.997321_%2C_0.00267876|false|false|false|SNV|true|0x050300020305040436000100|1|false|129|rs56104163|] -chr1 1248329 exm2590 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1248329|1248329|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1248329G>A|ENST00000435064.1|-|12|1215|c.1132C>T|c.(1132-1134)Ctg>Ttg|p.L378L|0.6683291770573566|TTGACCTCCAGCTACAGAGGC|CPSF3L_ENST00000421495.2_SPLICE_SITE_p.L120L/CPSF3L_ENST00000450926.2_SPLICE_SITE_p.L356L/CPSF3L_ENST00000411962.1_SPLICE_SITE_p.L280L/CPSF3L_ENST00000419704.1_SPLICE_SITE_p.L277L/CPSF3L_ENST00000540437.1_SPLICE_SITE_p.L384L/CPSF3L_ENST00000545578.1_SPLICE_SITE_p.L349L/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false|0.9982_%2C_0.001797|false|false|1||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|56104163|1248329|false|true|0|true|0|true|0.997321_%2C_0.00267876|false|false|false|SNV|true|0x050300020305040436000100|1|false|129|rs56104163|] -chr1 1249193 indel.166 C CGCAA . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1249193|1249194|FRAME_SHIFT_INS||INS|-|-|GCAA|g.chr1:1249193_1249194insGCAA|ENST00000435064.1|-|9|959|c.875_876insTTGC|c.(874-876)aagfs|p.K292fs|0.6325|CACGAAAGTCTTGCGGATCT|CPSF3L_ENST00000421495.2_FRAME_SHIFT_INS_p.K34fs/CPSF3L_ENST00000450926.2_FRAME_SHIFT_INS_p.K270fs/CPSF3L_ENST00000411962.1_FRAME_SHIFT_INS_p.K194fs/CPSF3L_ENST00000419704.1_FRAME_SHIFT_INS_p.K191fs/CPSF3L_ENST00000540437.1_FRAME_SHIFT_INS_p.K298fs/CPSF3L_ENST00000545578.1_FRAME_SHIFT_INS_p.K263fs/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|true|752230074|1249193|false|false|0|false|0|false||false|false|false|DIV|false|0x050000021205000402000200|1|false|144|rs752230074|] -chr1 1250794 variant.168 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1250794|1250794|NONSENSE||SNP|G|G|A|g.chr1:1250794G>A|ENST00000435064.1|-|6|636|c.553C>T|c.(553-555)Cga>Tga|p.R185*|0.6084788029925187|CCTAAGTGTCGGTCTGGGGTC|CPSF3L_ENST00000450926.2_NONSENSE_p.R163*/CPSF3L_ENST00000411962.1_NONSENSE_p.R87*/CPSF3L_ENST00000419704.1_NONSENSE_p.R84*/CPSF3L_ENST00000421495.2_FIVE_PRIME_UTR/CPSF3L_ENST00000540437.1_NONSENSE_p.R191*/CPSF3L_ENST00000545578.1_NONSENSE_p.R156*/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|false|false|false|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|373723769|1250794|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000e05040402000100|1|false|138|rs373723769|] -chr1 1254255 psy_rs62623580 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1254255|1254255|INTRON||SNP|G|G|A|g.chr1:1254255G>A|ENST00000435064.1|-|||c.e4-421C>T|||0.49875311720698257|CTTCTTCCCTGACCCACACCC|CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000450926.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_INTRON/CPSF3L_ENST00000545578.1_INTRON/RP5-890O3.9_ENST00000444968.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false|0.9373_%2C_0.0627|false|false|1||false|true|false|CPSF3L:54973|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|62623580|1254255|true|false|0|true|0|false|0.946974_%2C_0.0530256|false|false|false|SNV|true|0x0501000a0005150436000100|1|false|129|rs62623580|] -chr1 1254678 exm2656 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1254678|1254678|NONSENSE||SNP|G|G|A|g.chr1:1254678G>A|ENST00000435064.1|-|4|510|c.427C>T|c.(427-429)Cag>Tag|p.Q143*|0.628428927680798|AACCTGACCTGGACCGTCTGG|CPSF3L_ENST00000450926.2_NONSENSE_p.Q143*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.Q149*/CPSF3L_ENST00000545578.1_NONSENSE_p.Q114*/RP5-890O3.9_ENST00000444968.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|200207309|1254678|false|true|0|false|0|false||false|false|false|SNV|false|0x0502000a0605000402000100|1|false|137|rs200207309|] -chr1 1254694 exm2249782 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1254694|1254694|SILENT||SNP|G|G|A|g.chr1:1254694G>A|ENST00000435064.1|-|4|494|c.411C>T|c.(409-411)caC>caT|p.H137H|0.628428927680798|TCTGGTGGAGGTGGACAGCCA|CPSF3L_ENST00000450926.2_SILENT_p.H137H/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_SILENT_p.H143H/CPSF3L_ENST00000545578.1_SILENT_p.H108H/RP5-890O3.9_ENST00000444968.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|145964828|1254694|false|true|0|false|0|true||false|false|false|SNV|true|0x0502000a0305040402000100|1|false|134|rs145964828|] -chr1 1256453 exm2676 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1256453|1256453|NONSENSE||SNP|G|G|A|g.chr1:1256453G>A|ENST00000435064.1|-|2|132|c.49C>T|c.(49-51)Cga>Tga|p.R17*|0.6458852867830424|ATGCAGCTTCGGCCCACGTCC|CPSF3L_ENST00000450926.2_NONSENSE_p.R17*/CPSF3L_ENST00000419704.1_NONSENSE_p.R17*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.R23*/CPSF3L_ENST00000545578.1_FIVE_PRIME_UTR/GLTPD1_ENST00000343938.4_FIVE_PRIME_FLANK/RP5-890O3.9_ENST00000444968.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK/GLTPD1_ENST00000464957.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|CPSF3L:54973|false|true|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|200498230|1256453|false|true|0|false|0|false|0.999897_%2C_0.000103029|false|false|true|SNV|true|0x050200480605040436000100|1|false|137|rs200498230|] -chr1 1258246 rs3845293 A C . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1258246|1258246|INTRON||SNP|A|A|C|g.chr1:1258246A>C|ENST00000435064.1|-|||c.e1-1715T>G|||0.6359102244389028|GGAAGCGGTGAAACAGGACTT|CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000450926.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_INTRON/CPSF3L_ENST00000545578.1_INTRON/GLTPD1_ENST00000343938.4_FIVE_PRIME_FLANK/RP5-890O3.9_ENST00000444968.1_FIVE_PRIME_FLANK/GLTPD1_ENST00000464957.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false|0.2829_%2C_0.7171_%2C_.|false|false|1||false|true|true|CPTP:80772_%7C_CPSF3L:54973|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3845293|1258246|false|false|0|true|0|false||false|false|false|SNV|true|0x0501000a0005170537000100|1|false|108|rs3845293|] -chr1 1264539 rs307354 G C . PASS FUNCOTATION=[TAS1R3|hg19|chr1|1264539|1264539|FIVE_PRIME_FLANK||SNP|G|G|C|g.chr1:1264539G>C|ENST00000339381.5|+||||||0.6059850374064838|ACAAGAGAGAGACAGAGTCAC|CPSF3L_ENST00000411962.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000419704.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000421495.2_FIVE_PRIME_FLANK/CPSF3L_ENST00000435064.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000450926.2_FIVE_PRIME_FLANK/CPSF3L_ENST00000540437.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000545578.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||22|central_nervous_system(22)|||||||BK000152|NM_152228.1|NP_689414.1|HGNC:15661|taste_%20_1_%20_receptor_%20_member_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"taste_%20_receptor_%2C__%20_type_%20_1_%2C__%20_member_%20_3"|T1R3||1p36.33|2016-10-05||2015-12-16|AC026283||83756|ENSG00000169962|11319557||1161|Taste_%20_1_%20_receptors|CCDS30556|OTTHUMG00000003071|83756|605865|NM_152228|Q7RTX0|ENSG00000169962|uc010nyk.3|TS1R3_HUMAN||Q5TA49_%7C_Q8NGW9|Q7RTX0|detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_sweet_%20_taste_%20_(GO:0001582)_%7C_G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)_%7C_sensory_%20_perception_%20_of_%20_sweet_%20_taste_%20_(GO:0050916)_%7C_sensory_%20_perception_%20_of_%20_umami_%20_taste_%20_(GO:0050917)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|protein_%20_heterodimerization_%20_activity_%20_(GO:0046982)_%7C_taste_%20_receptor_%20_activity_%20_(GO:0008527)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1275882 exm3075 G A . PASS FUNCOTATION=[DVL1|hg19|chr1|1275882|1275882|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1275882G>A|ENST00000378888.5|-|6|892|c.607C>T|c.(607-609)Ctc>Ttc|p.L203F|0.6334164588528678|GAGCTGCTGAGCCTGGGAACA|DVL1_ENST00000378891.5_SPLICE_SITE_p.L203F|||||||||||||||||||||||||683|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL139287|||HGNC:3084|dishevelled_%20_segment_%20_polarity_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dishevelled_%20_1_%20_(homologous_%20_to_%20_Drosophila_%20_dsh)"_%2C__%20_"dishevelled_%2C__%20_dsh_%20_homolog_%20_1_%20_(Drosophila)"|||1p36.33|2016-10-05||2013-05-22|AF006011||1855|ENSG00000107404|8817329|NM_004421|505_%7C_1220|Dishevelled_%20_segment_%20_polarity_%20_proteins_%7C_PDZ_%20_domain_%20_containing|CCDS22_%2C__%20_CCDS81252|OTTHUMG00000003069|1855|601365|NM_004421|O14640|ENSG00000107404|uc002quu.4|DVL1_HUMAN||Q5TA33_%7C_Q5TA35|O14640|axon_%20_extension_%20_(GO:0048675)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0060070)_%7C_cochlea_%20_morphogenesis_%20_(GO:0090103)_%7C_collateral_%20_sprouting_%20_(GO:0048668)_%7C_convergent_%20_extension_%20_(GO:0060026)_%7C_convergent_%20_extension_%20_involved_%20_in_%20_neural_%20_plate_%20_elongation_%20_(GO:0022007)_%7C_cytoplasmic_%20_microtubule_%20_organization_%20_(GO:0031122)_%7C_dendrite_%20_morphogenesis_%20_(GO:0048813)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_neural_%20_tube_%20_development_%20_(GO:0021915)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_secretion_%20_(GO:0007269)_%7C_planar_%20_cell_%20_polarity_%20_pathway_%20_involved_%20_in_%20_neural_%20_tube_%20_closure_%20_(GO:0090179)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_projection_%20_development_%20_(GO:0010976)_%7C_positive_%20_regulation_%20_of_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0032436)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_prepulse_%20_inhibition_%20_(GO:0060134)_%7C_protein_%20_localization_%20_to_%20_microtubule_%20_(GO:0035372)_%7C_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:0034504)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_regulation_%20_of_%20_neurotransmitter_%20_levels_%20_(GO:0001505)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)_%7C_social_%20_behavior_%20_(GO:0035176)_%7C_synapse_%20_organization_%20_(GO:0050808)_%7C_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006366)_%7C_Wnt_%20_signaling_%20_pathway_%2C__%20_planar_%20_cell_%20_polarity_%20_pathway_%20_(GO:0060071)|axon_%20_(GO:0030424)_%7C_cell_%20_cortex_%20_(GO:0005938)_%7C_clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_cytoplasmic_%20_membrane-bounded_%20_vesicle_%20_(GO:0016023)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_dendrite_%20_(GO:0030425)_%7C_growth_%20_cone_%20_(GO:0030426)_%7C_microtubule_%20_(GO:0005874)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|enzyme_%20_binding_%20_(GO:0019899)_%7C_frizzled_%20_binding_%20_(GO:0005109)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rac_%20_GTPase_%20_binding_%20_(GO:0048365)||||true|false|0.9992_%2C_0.0007987_%2C_.|false|false|1||false|false|false|MIR6808:102466740_%7C_DVL1:1855|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|148942048|1275882|false|false|0|false|0|false|0.998901_%2C_0.00106463_%2C_3.4343e-005|false|false|false|SNV|true|0x050000020a05040436000100|1|false|134|rs148942048|] -chr1 1275883 exm3076 C T . PASS FUNCOTATION=[DVL1|hg19|chr1|1275883|1275883|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1275883C>T|ENST00000378888.5|-|6|891|c.606G>A|c.(604-606)agG>agA|p.R202R|0.6334164588528678|AGCTGCTGAGCCTGGGAACAG|DVL1_ENST00000378891.5_SPLICE_SITE_p.R202R|||||||||||||||||||||||||683|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL139287|||HGNC:3084|dishevelled_%20_segment_%20_polarity_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dishevelled_%20_1_%20_(homologous_%20_to_%20_Drosophila_%20_dsh)"_%2C__%20_"dishevelled_%2C__%20_dsh_%20_homolog_%20_1_%20_(Drosophila)"|||1p36.33|2016-10-05||2013-05-22|AF006011||1855|ENSG00000107404|8817329|NM_004421|505_%7C_1220|Dishevelled_%20_segment_%20_polarity_%20_proteins_%7C_PDZ_%20_domain_%20_containing|CCDS22_%2C__%20_CCDS81252|OTTHUMG00000003069|1855|601365|NM_004421|O14640|ENSG00000107404|uc002quu.4|DVL1_HUMAN||Q5TA33_%7C_Q5TA35|O14640|axon_%20_extension_%20_(GO:0048675)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0060070)_%7C_cochlea_%20_morphogenesis_%20_(GO:0090103)_%7C_collateral_%20_sprouting_%20_(GO:0048668)_%7C_convergent_%20_extension_%20_(GO:0060026)_%7C_convergent_%20_extension_%20_involved_%20_in_%20_neural_%20_plate_%20_elongation_%20_(GO:0022007)_%7C_cytoplasmic_%20_microtubule_%20_organization_%20_(GO:0031122)_%7C_dendrite_%20_morphogenesis_%20_(GO:0048813)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_neural_%20_tube_%20_development_%20_(GO:0021915)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_secretion_%20_(GO:0007269)_%7C_planar_%20_cell_%20_polarity_%20_pathway_%20_involved_%20_in_%20_neural_%20_tube_%20_closure_%20_(GO:0090179)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_projection_%20_development_%20_(GO:0010976)_%7C_positive_%20_regulation_%20_of_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0032436)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_prepulse_%20_inhibition_%20_(GO:0060134)_%7C_protein_%20_localization_%20_to_%20_microtubule_%20_(GO:0035372)_%7C_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:0034504)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_regulation_%20_of_%20_neurotransmitter_%20_levels_%20_(GO:0001505)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)_%7C_social_%20_behavior_%20_(GO:0035176)_%7C_synapse_%20_organization_%20_(GO:0050808)_%7C_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006366)_%7C_Wnt_%20_signaling_%20_pathway_%2C__%20_planar_%20_cell_%20_polarity_%20_pathway_%20_(GO:0060071)|axon_%20_(GO:0030424)_%7C_cell_%20_cortex_%20_(GO:0005938)_%7C_clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_cytoplasmic_%20_membrane-bounded_%20_vesicle_%20_(GO:0016023)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_dendrite_%20_(GO:0030425)_%7C_growth_%20_cone_%20_(GO:0030426)_%7C_microtubule_%20_(GO:0005874)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|enzyme_%20_binding_%20_(GO:0019899)_%7C_frizzled_%20_binding_%20_(GO:0005109)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rac_%20_GTPase_%20_binding_%20_(GO:0048365)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|MIR6808:102466740_%7C_DVL1:1855|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|143175544|1275883|false|false|0|false|0|true|0.999038_%2C_0.000961605|false|false|false|SNV|true|0x050000020305040436000100|1|false|134|rs143175544|] -chr1 1275883 exm3076 C T . PASS FUNCOTATION=[DVL1|hg19|chr1|1275883|1275883|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1275883C>T|ENST00000378888.5|-|6|891|c.606G>A|c.(604-606)agG>agA|p.R202R|0.6334164588528678|AGCTGCTGAGCCTGGGAACAG|DVL1_ENST00000378891.5_SPLICE_SITE_p.R202R|||||||||||||||||||||||||683|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL139287|||HGNC:3084|dishevelled_%20_segment_%20_polarity_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dishevelled_%20_1_%20_(homologous_%20_to_%20_Drosophila_%20_dsh)"_%2C__%20_"dishevelled_%2C__%20_dsh_%20_homolog_%20_1_%20_(Drosophila)"|||1p36.33|2016-10-05||2013-05-22|AF006011||1855|ENSG00000107404|8817329|NM_004421|505_%7C_1220|Dishevelled_%20_segment_%20_polarity_%20_proteins_%7C_PDZ_%20_domain_%20_containing|CCDS22_%2C__%20_CCDS81252|OTTHUMG00000003069|1855|601365|NM_004421|O14640|ENSG00000107404|uc002quu.4|DVL1_HUMAN||Q5TA33_%7C_Q5TA35|O14640|axon_%20_extension_%20_(GO:0048675)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0060070)_%7C_cochlea_%20_morphogenesis_%20_(GO:0090103)_%7C_collateral_%20_sprouting_%20_(GO:0048668)_%7C_convergent_%20_extension_%20_(GO:0060026)_%7C_convergent_%20_extension_%20_involved_%20_in_%20_neural_%20_plate_%20_elongation_%20_(GO:0022007)_%7C_cytoplasmic_%20_microtubule_%20_organization_%20_(GO:0031122)_%7C_dendrite_%20_morphogenesis_%20_(GO:0048813)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_neural_%20_tube_%20_development_%20_(GO:0021915)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_secretion_%20_(GO:0007269)_%7C_planar_%20_cell_%20_polarity_%20_pathway_%20_involved_%20_in_%20_neural_%20_tube_%20_closure_%20_(GO:0090179)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_projection_%20_development_%20_(GO:0010976)_%7C_positive_%20_regulation_%20_of_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0032436)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_prepulse_%20_inhibition_%20_(GO:0060134)_%7C_protein_%20_localization_%20_to_%20_microtubule_%20_(GO:0035372)_%7C_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:0034504)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_regulation_%20_of_%20_neurotransmitter_%20_levels_%20_(GO:0001505)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)_%7C_social_%20_behavior_%20_(GO:0035176)_%7C_synapse_%20_organization_%20_(GO:0050808)_%7C_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006366)_%7C_Wnt_%20_signaling_%20_pathway_%2C__%20_planar_%20_cell_%20_polarity_%20_pathway_%20_(GO:0060071)|axon_%20_(GO:0030424)_%7C_cell_%20_cortex_%20_(GO:0005938)_%7C_clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_cytoplasmic_%20_membrane-bounded_%20_vesicle_%20_(GO:0016023)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_dendrite_%20_(GO:0030425)_%7C_growth_%20_cone_%20_(GO:0030426)_%7C_microtubule_%20_(GO:0005874)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|enzyme_%20_binding_%20_(GO:0019899)_%7C_frizzled_%20_binding_%20_(GO:0005109)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rac_%20_GTPase_%20_binding_%20_(GO:0048365)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|MIR6808:102466740_%7C_DVL1:1855|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|143175544|1275883|false|false|0|false|0|true|0.999038_%2C_0.000961605|false|false|false|SNV|true|0x050000020305040436000100|1|false|134|rs143175544|] -chr1 1277184 exm1707125 G A . PASS FUNCOTATION=[DVL1|hg19|chr1|1277184|1277184|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1277184G>A|ENST00000378888.5|-|5|753|c.468C>T|c.(466-468)gcC>gcT|p.A156A|0.6408977556109726|TGGTCCGGGCGGCTGTGGGGG|DVL1_ENST00000378891.5_SPLICE_SITE_p.A156A|||||||||||||||||||||||||683|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL139287|||HGNC:3084|dishevelled_%20_segment_%20_polarity_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dishevelled_%20_1_%20_(homologous_%20_to_%20_Drosophila_%20_dsh)"_%2C__%20_"dishevelled_%2C__%20_dsh_%20_homolog_%20_1_%20_(Drosophila)"|||1p36.33|2016-10-05||2013-05-22|AF006011||1855|ENSG00000107404|8817329|NM_004421|505_%7C_1220|Dishevelled_%20_segment_%20_polarity_%20_proteins_%7C_PDZ_%20_domain_%20_containing|CCDS22_%2C__%20_CCDS81252|OTTHUMG00000003069|1855|601365|NM_004421|O14640|ENSG00000107404|uc002quu.4|DVL1_HUMAN||Q5TA33_%7C_Q5TA35|O14640|axon_%20_extension_%20_(GO:0048675)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0060070)_%7C_cochlea_%20_morphogenesis_%20_(GO:0090103)_%7C_collateral_%20_sprouting_%20_(GO:0048668)_%7C_convergent_%20_extension_%20_(GO:0060026)_%7C_convergent_%20_extension_%20_involved_%20_in_%20_neural_%20_plate_%20_elongation_%20_(GO:0022007)_%7C_cytoplasmic_%20_microtubule_%20_organization_%20_(GO:0031122)_%7C_dendrite_%20_morphogenesis_%20_(GO:0048813)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_neural_%20_tube_%20_development_%20_(GO:0021915)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_secretion_%20_(GO:0007269)_%7C_planar_%20_cell_%20_polarity_%20_pathway_%20_involved_%20_in_%20_neural_%20_tube_%20_closure_%20_(GO:0090179)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_projection_%20_development_%20_(GO:0010976)_%7C_positive_%20_regulation_%20_of_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0032436)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_prepulse_%20_inhibition_%20_(GO:0060134)_%7C_protein_%20_localization_%20_to_%20_microtubule_%20_(GO:0035372)_%7C_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:0034504)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_regulation_%20_of_%20_neurotransmitter_%20_levels_%20_(GO:0001505)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)_%7C_social_%20_behavior_%20_(GO:0035176)_%7C_synapse_%20_organization_%20_(GO:0050808)_%7C_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006366)_%7C_Wnt_%20_signaling_%20_pathway_%2C__%20_planar_%20_cell_%20_polarity_%20_pathway_%20_(GO:0060071)|axon_%20_(GO:0030424)_%7C_cell_%20_cortex_%20_(GO:0005938)_%7C_clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_cytoplasmic_%20_membrane-bounded_%20_vesicle_%20_(GO:0016023)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_dendrite_%20_(GO:0030425)_%7C_growth_%20_cone_%20_(GO:0030426)_%7C_microtubule_%20_(GO:0005874)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|enzyme_%20_binding_%20_(GO:0019899)_%7C_frizzled_%20_binding_%20_(GO:0005109)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rac_%20_GTPase_%20_binding_%20_(GO:0048365)||||true|false|0.998_%2C_0.001997|false|false|1||false|false|false|DVL1:1855|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201343862|1277184|false|false|0|false|0|true||false|false|false|SNV|true|0x050000000305040436000100|1|false|137|rs201343862|] -chr1 1277184 exm1707125 G A . PASS FUNCOTATION=[DVL1|hg19|chr1|1277184|1277184|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1277184G>A|ENST00000378888.5|-|5|753|c.468C>T|c.(466-468)gcC>gcT|p.A156A|0.6408977556109726|TGGTCCGGGCGGCTGTGGGGG|DVL1_ENST00000378891.5_SPLICE_SITE_p.A156A|||||||||||||||||||||||||683|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL139287|||HGNC:3084|dishevelled_%20_segment_%20_polarity_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dishevelled_%20_1_%20_(homologous_%20_to_%20_Drosophila_%20_dsh)"_%2C__%20_"dishevelled_%2C__%20_dsh_%20_homolog_%20_1_%20_(Drosophila)"|||1p36.33|2016-10-05||2013-05-22|AF006011||1855|ENSG00000107404|8817329|NM_004421|505_%7C_1220|Dishevelled_%20_segment_%20_polarity_%20_proteins_%7C_PDZ_%20_domain_%20_containing|CCDS22_%2C__%20_CCDS81252|OTTHUMG00000003069|1855|601365|NM_004421|O14640|ENSG00000107404|uc002quu.4|DVL1_HUMAN||Q5TA33_%7C_Q5TA35|O14640|axon_%20_extension_%20_(GO:0048675)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0060070)_%7C_cochlea_%20_morphogenesis_%20_(GO:0090103)_%7C_collateral_%20_sprouting_%20_(GO:0048668)_%7C_convergent_%20_extension_%20_(GO:0060026)_%7C_convergent_%20_extension_%20_involved_%20_in_%20_neural_%20_plate_%20_elongation_%20_(GO:0022007)_%7C_cytoplasmic_%20_microtubule_%20_organization_%20_(GO:0031122)_%7C_dendrite_%20_morphogenesis_%20_(GO:0048813)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_neural_%20_tube_%20_development_%20_(GO:0021915)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_secretion_%20_(GO:0007269)_%7C_planar_%20_cell_%20_polarity_%20_pathway_%20_involved_%20_in_%20_neural_%20_tube_%20_closure_%20_(GO:0090179)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_projection_%20_development_%20_(GO:0010976)_%7C_positive_%20_regulation_%20_of_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0032436)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_prepulse_%20_inhibition_%20_(GO:0060134)_%7C_protein_%20_localization_%20_to_%20_microtubule_%20_(GO:0035372)_%7C_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:0034504)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_regulation_%20_of_%20_neurotransmitter_%20_levels_%20_(GO:0001505)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)_%7C_social_%20_behavior_%20_(GO:0035176)_%7C_synapse_%20_organization_%20_(GO:0050808)_%7C_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006366)_%7C_Wnt_%20_signaling_%20_pathway_%2C__%20_planar_%20_cell_%20_polarity_%20_pathway_%20_(GO:0060071)|axon_%20_(GO:0030424)_%7C_cell_%20_cortex_%20_(GO:0005938)_%7C_clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_cytoplasmic_%20_membrane-bounded_%20_vesicle_%20_(GO:0016023)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_dendrite_%20_(GO:0030425)_%7C_growth_%20_cone_%20_(GO:0030426)_%7C_microtubule_%20_(GO:0005874)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|enzyme_%20_binding_%20_(GO:0019899)_%7C_frizzled_%20_binding_%20_(GO:0005109)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rac_%20_GTPase_%20_binding_%20_(GO:0048365)||||true|false|0.998_%2C_0.001997|false|false|1||false|false|false|DVL1:1855|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201343862|1277184|false|false|0|false|0|true||false|false|false|SNV|true|0x050000000305040436000100|1|false|137|rs201343862|] -chr1 1287127 rs307380 G A . PASS FUNCOTATION=[DVL1|hg19|chr1|1287127|1287127|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:1287127G>A|ENST00000378888.5|-||||||0.6508728179551122|AGCCAGGCAGGAAGACCTAAG|DVL1_ENST00000378891.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||683|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL139287|||HGNC:3084|dishevelled_%20_segment_%20_polarity_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dishevelled_%20_1_%20_(homologous_%20_to_%20_Drosophila_%20_dsh)"_%2C__%20_"dishevelled_%2C__%20_dsh_%20_homolog_%20_1_%20_(Drosophila)"|||1p36.33|2016-10-05||2013-05-22|AF006011||1855|ENSG00000107404|8817329|NM_004421|505_%7C_1220|Dishevelled_%20_segment_%20_polarity_%20_proteins_%7C_PDZ_%20_domain_%20_containing|CCDS22_%2C__%20_CCDS81252|OTTHUMG00000003069|1855|601365|NM_004421|O14640|ENSG00000107404|uc002quu.4|DVL1_HUMAN||Q5TA33_%7C_Q5TA35|O14640|axon_%20_extension_%20_(GO:0048675)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0060070)_%7C_cochlea_%20_morphogenesis_%20_(GO:0090103)_%7C_collateral_%20_sprouting_%20_(GO:0048668)_%7C_convergent_%20_extension_%20_(GO:0060026)_%7C_convergent_%20_extension_%20_involved_%20_in_%20_neural_%20_plate_%20_elongation_%20_(GO:0022007)_%7C_cytoplasmic_%20_microtubule_%20_organization_%20_(GO:0031122)_%7C_dendrite_%20_morphogenesis_%20_(GO:0048813)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_neural_%20_tube_%20_development_%20_(GO:0021915)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_secretion_%20_(GO:0007269)_%7C_planar_%20_cell_%20_polarity_%20_pathway_%20_involved_%20_in_%20_neural_%20_tube_%20_closure_%20_(GO:0090179)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_projection_%20_development_%20_(GO:0010976)_%7C_positive_%20_regulation_%20_of_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0032436)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_prepulse_%20_inhibition_%20_(GO:0060134)_%7C_protein_%20_localization_%20_to_%20_microtubule_%20_(GO:0035372)_%7C_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:0034504)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_regulation_%20_of_%20_neurotransmitter_%20_levels_%20_(GO:0001505)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)_%7C_social_%20_behavior_%20_(GO:0035176)_%7C_synapse_%20_organization_%20_(GO:0050808)_%7C_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006366)_%7C_Wnt_%20_signaling_%20_pathway_%2C__%20_planar_%20_cell_%20_polarity_%20_pathway_%20_(GO:0060071)|axon_%20_(GO:0030424)_%7C_cell_%20_cortex_%20_(GO:0005938)_%7C_clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_cytoplasmic_%20_membrane-bounded_%20_vesicle_%20_(GO:0016023)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_dendrite_%20_(GO:0030425)_%7C_growth_%20_cone_%20_(GO:0030426)_%7C_microtubule_%20_(GO:0005874)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|enzyme_%20_binding_%20_(GO:0019899)_%7C_frizzled_%20_binding_%20_(GO:0005109)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rac_%20_GTPase_%20_binding_%20_(GO:0048365)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1305561 rs17160669 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1305561|1305561|IGR||SNP|C|C|T|g.chr1:1305561C>T|no_transcript|||||||0.5211970074812967|CATGGCTTCCCGGCAAGTTAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1309583 exm3225 G A . PASS FUNCOTATION=[AURKAIP1|hg19|chr1|1309583|1309583|NONSENSE||SNP|G|G|A|g.chr1:1309583G>A|ENST00000338370.3|-|2|696|c.295C>T|c.(295-297)Caa>Taa|p.Q99*|0.6533665835411472|TGGTAGGATTGCGGTGGAGCC|AURKAIP1_ENST00000338338.5_NONSENSE_p.Q99*/AURKAIP1_ENST00000378853.3_NONSENSE_p.Q99*/AURKAIP1_ENST00000321751.5_NONSENSE_p.Q99*|||||||||||||||||||||||||93|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_upper_aerodigestive_tract(1)|||||||BC062333|||HGNC:24114|aurora_%20_kinase_%20_A_%20_interacting_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||AKIP_%2C__%20_AIP_%2C__%20_FLJ20608||1p36.33|2014-11-18|||||54998|ENSG00000175756|12244051|NM_017900|||CCDS25|OTTHUMG00000001413|54998|609183|NM_001127229|Q9NWT8|ENSG00000175756|uc001afc.3|AKIP_HUMAN||Q5TA36_%7C_Q8TBD3|Q9NWT8|negative_%20_regulation_%20_of_%20_mitosis_%20_(GO:0045839)_%7C_positive_%20_regulation_%20_of_%20_proteolysis_%20_(GO:0045862)|intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1335302 rs1240707 C T . PASS FUNCOTATION=[RP4-758J18.2|hg19|chr1|1335302|1335302|INTRON||SNP|C|C|T|g.chr1:1335302C>T|ENST00000448629.2|+|||c.e1+233C>T|||0.655860349127182|AACACTCAGCCCCTGGGGAGA|RP4-758J18.2_ENST00000444362.1_INTRON/RP4-758J18.2_ENST00000576232.1_INTRON/CCNL2_ENST00000400809.3_FIVE_PRIME_FLANK/CCNL2_ENST00000408918.4_FIVE_PRIME_FLANK/CCNL2_ENST00000408952.5_FIVE_PRIME_FLANK/RP4-758J18.2_ENST00000453521.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CH471183||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1335790 rs1240708 A G . PASS FUNCOTATION=[RP4-758J18.2|hg19|chr1|1335790|1335790|INTRON||SNP|A|A|G|g.chr1:1335790A>G|ENST00000448629.2|+|||c.e2+107A>G|||0.5760598503740648|AGCTGCCAGTAACTGCCCAGC|RP4-758J18.2_ENST00000576232.1_THREE_PRIME_UTR/RP4-758J18.2_ENST00000444362.1_INTRON/CCNL2_ENST00000400809.3_FIVE_PRIME_FLANK/CCNL2_ENST00000408918.4_FIVE_PRIME_FLANK/CCNL2_ENST00000408952.5_FIVE_PRIME_FLANK/RP4-758J18.2_ENST00000453521.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CH471183||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1341171 variant.210 C T . PASS FUNCOTATION=[MRPL20|hg19|chr1|1341171|1341171|INTRON||SNP|C|C|T|g.chr1:1341171C>T|ENST00000344843.7|-|||c.e3-18G>A|||0.4513715710723192|TCAGTGGGACCCACATACTCA|MRPL20_ENST00000482352.1_NONSENSE_p.W98*/MRPL20_ENST00000493287.1_INTRON/RN7SL657P_ENST00000582431.1_FIVE_PRIME_FLANK/RP4-758J18.13_ENST00000607307.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||23|breast(11)_%7C_large_intestine(11)_%7C_oesophagus(1)|||||||CH471183|NM_017971.3|NP_060441.2|HGNC:14478|mitochondrial_%20_ribosomal_%20_protein_%20_L20|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10024||1p36.33|2016-10-05|||AB049644||55052|ENSG00000242485||NM_017971|646|Mitochondrial_%20_ribosomal_%20_proteins|CCDS26|OTTHUMG00000002916|55052|611833|NM_001318485|Q9BYC9|ENSG00000242485|uc001afo.5|RM20_HUMAN||B2RE41_%7C_B7Z746|Q9BYC9|translation_%20_(GO:0006412)|mitochondrial_%20_ribosome_%20_(GO:0005761)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_rRNA_%20_binding_%20_(GO:0019843)_%7C_structural_%20_constituent_%20_of_%20_ribosome_%20_(GO:0003735)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1354515 exm3350 C G . PASS FUNCOTATION=[ANKRD65|hg19|chr1|1354515|1354515|THREE_PRIME_UTR||SNP|C|C|G|g.chr1:1354515C>G|ENST00000520296.1|-|3|||||0.6683291770573566|CACTCCTTCTCCCCCCCTCCA|ANKRD65_ENST00000427211.1_THREE_PRIME_UTR/ANKRD65_ENST00000537107.1_MISSENSE_p.E389Q/ANKRD65_ENST00000454272.1_INTRON/RP4-758J18.7_ENST00000428932.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||BC094869|NM_001243536.1|NP_001230465.1|HGNC:42950|ankyrin_%20_repeat_%20_domain_%20_65|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.33|2013-01-10|||||441869|ENSG00000235098|||403|Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS55558_%2C__%20_CCDS57962_%2C__%20_CCDS57963|OTTHUMG00000002911|441869||NM_001145210|E5RJM6|ENSG00000235098|uc010nyo.3|ANR65_HUMAN||J3KR93|E5RJM6|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1354538 exm3352 G A . PASS FUNCOTATION=[ANKRD65|hg19|chr1|1354538|1354538|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:1354538G>A|ENST00000520296.1|-|3|||||0.6708229426433915|TTCAGGCAGCGCCTGGGGCAG|ANKRD65_ENST00000427211.1_THREE_PRIME_UTR/ANKRD65_ENST00000442470.1_THREE_PRIME_UTR/ANKRD65_ENST00000537107.1_MISSENSE_p.A381V/ANKRD65_ENST00000454272.1_INTRON/RP4-758J18.7_ENST00000428932.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||BC094869|NM_001243536.1|NP_001230465.1|HGNC:42950|ankyrin_%20_repeat_%20_domain_%20_65|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.33|2013-01-10|||||441869|ENSG00000235098|||403|Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS55558_%2C__%20_CCDS57962_%2C__%20_CCDS57963|OTTHUMG00000002911|441869||NM_001145210|E5RJM6|ENSG00000235098|uc010nyo.3|ANR65_HUMAN||J3KR93|E5RJM6|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1354844 exm3367 C T . PASS FUNCOTATION=[ANKRD65|hg19|chr1|1354844|1354844|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:1354844C>T|ENST00000520296.1|-|3|||||0.6882793017456359|CAGGTGTCCTCGGGCGGCAGC|ANKRD65_ENST00000427211.1_MISSENSE_p.E99K/ANKRD65_ENST00000442470.1_MISSENSE_p.E99K/ANKRD65_ENST00000537107.1_MISSENSE_p.R279Q/ANKRD65_ENST00000454272.1_INTRON/RP4-758J18.7_ENST00000428932.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||BC094869|NM_001243536.1|NP_001230465.1|HGNC:42950|ankyrin_%20_repeat_%20_domain_%20_65|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.33|2013-01-10|||||441869|ENSG00000235098|||403|Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS55558_%2C__%20_CCDS57962_%2C__%20_CCDS57963|OTTHUMG00000002911|441869||NM_001145210|E5RJM6|ENSG00000235098|uc010nyo.3|ANR65_HUMAN||J3KR93|E5RJM6|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1354920 exm3369 C A . PASS FUNCOTATION=[ANKRD65|hg19|chr1|1354920|1354920|THREE_PRIME_UTR||SNP|C|C|A|g.chr1:1354920C>A|ENST00000520296.1|-|3|||||0.6658354114713217|CCCAGCAGCACCTCAATGTCC|ANKRD65_ENST00000427211.1_MISSENSE_p.R73S/ANKRD65_ENST00000442470.1_MISSENSE_p.R73S/ANKRD65_ENST00000537107.1_MISSENSE_p.V254L/ANKRD65_ENST00000454272.1_INTRON/RP4-758J18.7_ENST00000428932.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||BC094869|NM_001243536.1|NP_001230465.1|HGNC:42950|ankyrin_%20_repeat_%20_domain_%20_65|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.33|2013-01-10|||||441869|ENSG00000235098|||403|Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS55558_%2C__%20_CCDS57962_%2C__%20_CCDS57963|OTTHUMG00000002911|441869||NM_001145210|E5RJM6|ENSG00000235098|uc010nyo.3|ANR65_HUMAN||J3KR93|E5RJM6|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1366830 rs873927 A G . PASS FUNCOTATION=[VWA1|hg19|chr1|1366830|1366830|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:1366830A>G|ENST00000338660.5|+||||||0.6633416458852868|CCACTTCAGGACCCTGGGTCC|VWA1_ENST00000404702.3_FIVE_PRIME_FLANK/VWA1_ENST00000476993.1_FIVE_PRIME_FLANK/RP4-758J18.10_ENST00000417917.1_LINCRNA|||||||||||||||||||||||||22|breast(11)_%7C_large_intestine(11)|||||||CH471183|||HGNC:30910|von_%20_Willebrand_%20_factor_%20_A_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ22215_%2C__%20_VWA-1_%2C__%20_WARP||1p36.33|2016-04-25|||BC059409||64856|ENSG00000179403|14527666_%2C__%20_12062410|NM_022834|555|Fibronectin_%20_type_%20_III_%20_domain_%20_containing|CCDS27_%2C__%20_CCDS28|OTTHUMG00000002975|64856|611901|NM_022834|Q6PCB0|ENSG00000179403|uc001afs.4|VWA1_HUMAN||A8K692_%7C_B3KUA1_%7C_E9PB53_%7C_Q7L5D7_%7C_Q9H6J5|Q6PCB0|behavioral_%20_response_%20_to_%20_pain_%20_(GO:0048266)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)|basement_%20_membrane_%20_(GO:0005604)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_interstitial_%20_matrix_%20_(GO:0005614)|||||true|false|0.3157_%2C_0.6843|false|false|1||false|true|false|LOC102724312:102724312|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|873927|1366830|true|false|0|true|0|false|0.497733_%2C_0.502267|false|false|false|SNV|true|0x050100080005150537000100|1|false|92|rs873927|] -chr1 1372743 exm3425 C T . PASS FUNCOTATION=[VWA1|hg19|chr1|1372743|1372743|SILENT||SNP|C|C|T|g.chr1:1372743C>T|ENST00000476993.1|+|2|588|c.510C>T|c.(508-510)acC>acT|p.T170T|0.6334164588528678|TTGTCAGCACCGGCCGAGGCA|VWA1_ENST00000338660.5_MISSENSE_p.R39W/VWA1_ENST00000404702.3_FIVE_PRIME_UTR/RP4-758J18.10_ENST00000417917.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||22|breast(11)_%7C_large_intestine(11)|||||||CH471183|NM_022834.4|NP_073745.2|HGNC:30910|von_%20_Willebrand_%20_factor_%20_A_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ22215_%2C__%20_VWA-1_%2C__%20_WARP||1p36.33|2016-04-25|||BC059409||64856|ENSG00000179403|14527666_%2C__%20_12062410|NM_022834|555|Fibronectin_%20_type_%20_III_%20_domain_%20_containing|CCDS27_%2C__%20_CCDS28|OTTHUMG00000002975|64856|611901|NM_022834|Q6PCB0|ENSG00000179403|uc001afs.4|VWA1_HUMAN||A8K692_%7C_B3KUA1_%7C_E9PB53_%7C_Q7L5D7_%7C_Q9H6J5|Q6PCB0|behavioral_%20_response_%20_to_%20_pain_%20_(GO:0048266)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)|basement_%20_membrane_%20_(GO:0005604)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_interstitial_%20_matrix_%20_(GO:0005614)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1372773 exm3429 C T . PASS FUNCOTATION=[VWA1|hg19|chr1|1372773|1372773|SILENT||SNP|C|C|T|g.chr1:1372773C>T|ENST00000476993.1|+|2|618|c.540C>T|c.(538-540)gcC>gcT|p.A180A|0.6384039900249376|AGCTGTCAGCCGCTGCCTCAG|VWA1_ENST00000338660.5_MISSENSE_p.R49C/VWA1_ENST00000404702.3_FIVE_PRIME_UTR/RP4-758J18.10_ENST00000417917.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||22|breast(11)_%7C_large_intestine(11)|||||||CH471183|NM_022834.4|NP_073745.2|HGNC:30910|von_%20_Willebrand_%20_factor_%20_A_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ22215_%2C__%20_VWA-1_%2C__%20_WARP||1p36.33|2016-04-25|||BC059409||64856|ENSG00000179403|14527666_%2C__%20_12062410|NM_022834|555|Fibronectin_%20_type_%20_III_%20_domain_%20_containing|CCDS27_%2C__%20_CCDS28|OTTHUMG00000002975|64856|611901|NM_022834|Q6PCB0|ENSG00000179403|uc001afs.4|VWA1_HUMAN||A8K692_%7C_B3KUA1_%7C_E9PB53_%7C_Q7L5D7_%7C_Q9H6J5|Q6PCB0|behavioral_%20_response_%20_to_%20_pain_%20_(GO:0048266)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)|basement_%20_membrane_%20_(GO:0005604)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_interstitial_%20_matrix_%20_(GO:0005614)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1388268 rs36044796 C A . PASS FUNCOTATION=[ATAD3C|hg19|chr1|1388268|1388268|INTRON||SNP|C|C|A|g.chr1:1388268C>A|ENST00000378785.2|+|||c.e3+454C>A|||0.5386533665835411|CCTCAGAAAACCCTGAGAGTT||||||||||||||||||||||||||||||||||BC101212|NM_001039211.2|NP_001034300.2|HGNC:32151|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_3C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ34599||1p36.33|2015-09-11|2007-02-08||AK091918||219293|ENSG00000215915||NM_001039211|413|AAA_%20_ATPases|CCDS44039|OTTHUMG00000000531|219293|617227|NM_001039211|Q5T2N8|ENSG00000215915|uc001aft.2|ATD3C_HUMAN||Q8N1Z5|Q5T2N8|||ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1396296 exm3518 C T . PASS FUNCOTATION=[ATAD3C|hg19|chr1|1396296|1396296|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:1396296C>T|ENST00000378785.2|+|10|1974|c.979C>T|c.(979-981)Cgg>Tgg|p.R327W|0.6508728179551122|AGAAGGAAAGCGGTAAGTGTC||||||||||||||||||||||||||||||||||BC101212|NM_001039211.2|NP_001034300.2|HGNC:32151|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_3C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ34599||1p36.33|2015-09-11|2007-02-08||AK091918||219293|ENSG00000215915||NM_001039211|413|AAA_%20_ATPases|CCDS44039|OTTHUMG00000000531|219293|617227|NM_001039211|Q5T2N8|ENSG00000215915|uc001aft.2|ATD3C_HUMAN||Q8N1Z5|Q5T2N8|||ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1396297 variant.222 G A . PASS FUNCOTATION=[ATAD3C|hg19|chr1|1396297|1396297|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1396297G>A|ENST00000378785.2|+|10|1975|c.980G>A|c.(979-981)cGg>cAg|p.R327Q|0.6483790523690773|GAAGGAAAGCGGTAAGTGTCC||||||||||||||||||||||||||||||||||BC101212|NM_001039211.2|NP_001034300.2|HGNC:32151|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_3C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ34599||1p36.33|2015-09-11|2007-02-08||AK091918||219293|ENSG00000215915||NM_001039211|413|AAA_%20_ATPases|CCDS44039|OTTHUMG00000000531|219293|617227|NM_001039211|Q5T2N8|ENSG00000215915|uc001aft.2|ATD3C_HUMAN||Q8N1Z5|Q5T2N8|||ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1425658 exm2249844 C T . PASS FUNCOTATION=[ATAD3B|hg19|chr1|1425658|1425658|SILENT||SNP|C|C|T|g.chr1:1425658C>T|ENST00000308647.7|+|14|1475|c.1359C>T|c.(1357-1359)agC>agT|p.S453S|0.6109725685785536|TCCTGGCCAGCAATCTGCCTG||||||||||||||||||||||||||44|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)|||||||CH471183|NM_031921.4|NP_114127.3|HGNC:24007|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_3B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||TOB3_%2C__%20_KIAA1273||1p36.33|2015-09-11|2007-02-08||AL834179||83858|ENSG00000160072|10574462|NM_031921|413|AAA_%20_ATPases|CCDS30|OTTHUMG00000000577|83858|612317|NM_001317238|Q5T9A4|ENSG00000160072|uc001afv.4|ATD3B_HUMAN||A8K3H1_%7C_Q6ZRB5_%7C_Q9BUK4_%7C_Q9ULE7|Q5T9A4||mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)|ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1425700 rs819980 T C . PASS FUNCOTATION=[ATAD3B|hg19|chr1|1425700|1425700|SILENT||SNP|T|T|C|g.chr1:1425700T>C|ENST00000308647.7|+|14|1517|c.1401T>C|c.(1399-1401)atT>atC|p.I467I|0.6034912718204489|ACAGCCGCATTGACGTGATGG||||||||||||||||||||||||||44|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)|||||||CH471183|NM_031921.4|NP_114127.3|HGNC:24007|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_3B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||TOB3_%2C__%20_KIAA1273||1p36.33|2015-09-11|2007-02-08||AL834179||83858|ENSG00000160072|10574462|NM_031921|413|AAA_%20_ATPases|CCDS30|OTTHUMG00000000577|83858|612317|NM_001317238|Q5T9A4|ENSG00000160072|uc001afv.4|ATD3B_HUMAN||A8K3H1_%7C_Q6ZRB5_%7C_Q9BUK4_%7C_Q9ULE7|Q5T9A4||mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)|ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1430993 exm2249851 C T . PASS FUNCOTATION=[ATAD3B|hg19|chr1|1430993|1430993|SILENT||SNP|C|C|T|g.chr1:1430993C>T|ENST00000308647.7|+|16|1859|c.1743C>T|c.(1741-1743)gtC>gtT|p.V581V|0.6608478802992519|GGCGCGGGGTCGAGCACCCCC||||||||||||||||||||||||||44|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)|||||||CH471183|NM_031921.4|NP_114127.3|HGNC:24007|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_3B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||TOB3_%2C__%20_KIAA1273||1p36.33|2015-09-11|2007-02-08||AL834179||83858|ENSG00000160072|10574462|NM_031921|413|AAA_%20_ATPases|CCDS30|OTTHUMG00000000577|83858|612317|NM_001317238|Q5T9A4|ENSG00000160072|uc001afv.4|ATD3B_HUMAN||A8K3H1_%7C_Q6ZRB5_%7C_Q9BUK4_%7C_Q9ULE7|Q5T9A4||mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)|ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1447325 rs6690515 G A . PASS FUNCOTATION=[ATAD3A|hg19|chr1|1447325|1447325|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:1447325G>A|ENST00000378755.5|+||||||0.6932668329177057|GGCTGACGCTGCCTTGGGTTC|ATAD3A_ENST00000378756.3_FIVE_PRIME_FLANK/ATAD3A_ENST00000536055.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||GU189416|NM_018188.3|NP_060658.3|HGNC:25567|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_3A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10709||1p36.33|2017-11-27|2007-02-08||AK025865||55210|ENSG00000197785|28158749|NM_018188|413|AAA_%20_ATPases|CCDS31_%2C__%20_CCDS53259_%2C__%20_CCDS53260|OTTHUMG00000000575|55210|612316|NM_001170535|Q9NVI7|ENSG00000197785|uc001aga.3|ATD3A_HUMAN||B3KPB3_%7C_D2K8Q1_%7C_G3V1I6_%7C_Q5SV23_%7C_Q8N275_%7C_Q96A50|Q9NVI7|cell_%20_growth_%20_(GO:0016049)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_nucleoid_%20_(GO:0042645)_%7C_mitochondrion_%20_(GO:0005739)|ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1450947 rs6669795 A C . PASS FUNCOTATION=[ATAD3A|hg19|chr1|1450947|1450947|INTRON||SNP|A|A|C|g.chr1:1450947A>C|ENST00000378756.3|+|||c.e2-445A>C|||0.46633416458852867|TGTCCTCGTCACCCTGAGCTT|ATAD3A_ENST00000378755.5_INTRON/ATAD3A_ENST00000536055.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||GU189416|NM_001170535.1|NP_001164006.1|HGNC:25567|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_3A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10709||1p36.33|2017-11-27|2007-02-08||AK025865||55210|ENSG00000197785|28158749|NM_018188|413|AAA_%20_ATPases|CCDS31_%2C__%20_CCDS53259_%2C__%20_CCDS53260|OTTHUMG00000000575|55210|612316|NM_001170535|Q9NVI7|ENSG00000197785|uc001aga.3|ATD3A_HUMAN||B3KPB3_%7C_D2K8Q1_%7C_G3V1I6_%7C_Q5SV23_%7C_Q8N275_%7C_Q96A50|Q9NVI7|cell_%20_growth_%20_(GO:0016049)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_nucleoid_%20_(GO:0042645)_%7C_mitochondrion_%20_(GO:0005739)|ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1460671 exm3851 C T . PASS FUNCOTATION=[ATAD3A|hg19|chr1|1460671|1460671|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1460671C>T|ENST00000378756.3|+|12|1384|c.1266C>T|c.(1264-1266)acC>acT|p.T422T|0.5810473815461347|AGCGAGCCACCGTGAGTGTCA|ATAD3A_ENST00000378755.5_SPLICE_SITE_p.T470T/ATAD3A_ENST00000536055.1_SPLICE_SITE_p.T343T|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||GU189416|NM_001170535.1|NP_001164006.1|HGNC:25567|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_3A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10709||1p36.33|2017-11-27|2007-02-08||AK025865||55210|ENSG00000197785|28158749|NM_018188|413|AAA_%20_ATPases|CCDS31_%2C__%20_CCDS53259_%2C__%20_CCDS53260|OTTHUMG00000000575|55210|612316|NM_001170535|Q9NVI7|ENSG00000197785|uc001aga.3|ATD3A_HUMAN||B3KPB3_%7C_D2K8Q1_%7C_G3V1I6_%7C_Q5SV23_%7C_Q8N275_%7C_Q96A50|Q9NVI7|cell_%20_growth_%20_(GO:0016049)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_nucleoid_%20_(GO:0042645)_%7C_mitochondrion_%20_(GO:0005739)|ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1460671 exm3851 C T . PASS FUNCOTATION=[ATAD3A|hg19|chr1|1460671|1460671|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1460671C>T|ENST00000378756.3|+|12|1384|c.1266C>T|c.(1264-1266)acC>acT|p.T422T|0.5810473815461347|AGCGAGCCACCGTGAGTGTCA|ATAD3A_ENST00000378755.5_SPLICE_SITE_p.T470T/ATAD3A_ENST00000536055.1_SPLICE_SITE_p.T343T|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||GU189416|NM_001170535.1|NP_001164006.1|HGNC:25567|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_3A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10709||1p36.33|2017-11-27|2007-02-08||AK025865||55210|ENSG00000197785|28158749|NM_018188|413|AAA_%20_ATPases|CCDS31_%2C__%20_CCDS53259_%2C__%20_CCDS53260|OTTHUMG00000000575|55210|612316|NM_001170535|Q9NVI7|ENSG00000197785|uc001aga.3|ATD3A_HUMAN||B3KPB3_%7C_D2K8Q1_%7C_G3V1I6_%7C_Q5SV23_%7C_Q8N275_%7C_Q96A50|Q9NVI7|cell_%20_growth_%20_(GO:0016049)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_nucleoid_%20_(GO:0042645)_%7C_mitochondrion_%20_(GO:0005739)|ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1465382 rs12032637 A G . PASS FUNCOTATION=[ATAD3A|hg19|chr1|1465382|1465382|INTRON||SNP|A|A|G|g.chr1:1465382A>G|ENST00000378756.3|+|||c.e15+671A>G|||0.5610972568578554|GAGTCTGTGTAACAACCTGGT|ATAD3A_ENST00000378755.5_INTRON/ATAD3A_ENST00000536055.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||GU189416|NM_001170535.1|NP_001164006.1|HGNC:25567|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_3A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10709||1p36.33|2017-11-27|2007-02-08||AK025865||55210|ENSG00000197785|28158749|NM_018188|413|AAA_%20_ATPases|CCDS31_%2C__%20_CCDS53259_%2C__%20_CCDS53260|OTTHUMG00000000575|55210|612316|NM_001170535|Q9NVI7|ENSG00000197785|uc001aga.3|ATD3A_HUMAN||B3KPB3_%7C_D2K8Q1_%7C_G3V1I6_%7C_Q5SV23_%7C_Q8N275_%7C_Q96A50|Q9NVI7|cell_%20_growth_%20_(GO:0016049)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_nucleoid_%20_(GO:0042645)_%7C_mitochondrion_%20_(GO:0005739)|ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1474167 rs1571149 A G . PASS FUNCOTATION=[TMEM240|hg19|chr1|1474167|1474167|INTRON||SNP|A|A|G|g.chr1:1474167A>G|ENST00000378733.4|-|||c.e2-897T>C|||0.5860349127182045|CACATGCCCCACACCCACACG|TMEM240_ENST00000425828.1_INTRON|||||||||||||||||||||||||||||||||BC147020|NM_001114748.1|NP_001108220.1|HGNC:25186|transmembrane_%20_protein_%20_240|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf70_%2C__%20_SCA21|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_70"_%2C__%20_"spinocerebellar_%20_ataxia_%20_21"|||1p36.33|2015-08-26|2011-11-25|2011-11-25|||339453|ENSG00000205090|12402269_%2C__%20_25070513|NM_001114748|||CCDS44040|OTTHUMG00000042193|339453|616101|NM_001114748|Q5SV17|ENSG00000205090|uc057bfw.1|TM240_HUMAN||B9EJG7|Q5SV17||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1485984 rs2031709 C A . PASS FUNCOTATION=[SSU72|hg19|chr1|1485984|1485984|INTRON||SNP|C|C|A|g.chr1:1485984C>A|ENST00000291386.3|-|||c.e3+5602G>T|||0.6209476309226932|GCTGGCCCCCCTCAAGTGCCT||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(2)|||||||CH471183|NM_014188.2|NP_054907.1|HGNC:25016|SSU72_%20_homolog_%2C__%20_RNA_%20_polymerase_%20_II_%20_CTD_%20_phosphatase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Ssu72_%20_RNA_%20_polymerase_%20_II_%20_CTD_%20_phosphatase_%20_homolog_%20_(yeast)"_%2C__%20_"SSU72_%20_RNA_%20_polymerase_%20_II_%20_CTD_%20_phosphatase_%20_homolog_%20_(S._%20_cerevisiae)"|HSPC182||1p36.33|2016-10-05||2015-08-13|AJ276409||29101|ENSG00000160075|15125841_%2C__%20_15659578|NM_014188|814|Serine/threonine_%20_phosphatases|CCDS32|OTTHUMG00000000576|29101|617680|NM_014188|Q9NP77|ENSG00000160075|uc001agd.4|SSU72_HUMAN||Q9BZS6_%7C_Q9H933|Q9NP77|dephosphorylation_%20_of_%20_RNA_%20_polymerase_%20_II_%20_C-terminal_%20_domain_%20_(GO:0070940)_%7C_mRNA_%20_polyadenylation_%20_(GO:0006378)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|CTD_%20_phosphatase_%20_activity_%20_(GO:0008420)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1489670 rs7531530 C T . PASS FUNCOTATION=[SSU72|hg19|chr1|1489670|1489670|INTRON||SNP|C|C|T|g.chr1:1489670C>T|ENST00000291386.3|-|||c.e3+9288G>A|||0.6384039900249376|GAGCACGAGACGGATCCGGAC||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(2)|||||||CH471183|NM_014188.2|NP_054907.1|HGNC:25016|SSU72_%20_homolog_%2C__%20_RNA_%20_polymerase_%20_II_%20_CTD_%20_phosphatase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Ssu72_%20_RNA_%20_polymerase_%20_II_%20_CTD_%20_phosphatase_%20_homolog_%20_(yeast)"_%2C__%20_"SSU72_%20_RNA_%20_polymerase_%20_II_%20_CTD_%20_phosphatase_%20_homolog_%20_(S._%20_cerevisiae)"|HSPC182||1p36.33|2016-10-05||2015-08-13|AJ276409||29101|ENSG00000160075|15125841_%2C__%20_15659578|NM_014188|814|Serine/threonine_%20_phosphatases|CCDS32|OTTHUMG00000000576|29101|617680|NM_014188|Q9NP77|ENSG00000160075|uc001agd.4|SSU72_HUMAN||Q9BZS6_%7C_Q9H933|Q9NP77|dephosphorylation_%20_of_%20_RNA_%20_polymerase_%20_II_%20_C-terminal_%20_domain_%20_(GO:0070940)_%7C_mRNA_%20_polyadenylation_%20_(GO:0006378)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|CTD_%20_phosphatase_%20_activity_%20_(GO:0008420)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1521595 rs6604983 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|1521595|1521595|IGR||SNP|A|A|G|g.chr1:1521595A>G|no_transcript|||||||0.5461346633416458|CGAAGAGGACAGCCAGAAGAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1550992 exm3957 C A . PASS FUNCOTATION=[MIB2|hg19|chr1|1550992|1550992|NONSENSE||SNP|C|C|A|g.chr1:1550992C>A|ENST00000505820.2|+|1|170|c.153C>A|c.(151-153)tgC>tgA|p.C51*|0.7630922693266833|TGGCGCGATGCGGGCCGTCCT|MIB2_ENST00000520777.1_NONSENSE_p.C51*/MIB2_ENST00000355826.5_NONSENSE_p.C51*/MIB2_ENST00000518681.1_NONSENSE_p.C51*/MIB2_ENST00000357210.4_FIVE_PRIME_UTR/MIB2_ENST00000360522.4_FIVE_PRIME_UTR/MIB2_ENST00000378710.3_FIVE_PRIME_UTR/MIB2_ENST00000378708.1_FIVE_PRIME_FLANK/MIB2_ENST00000378712.1_FIVE_PRIME_FLANK/MIB2_ENST00000504599.1_FIVE_PRIME_FLANK/RP11-345P4.9_ENST00000607222.1_RNA|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC037542|||HGNC:30577|mindbomb_%20_E3_%20_ubiquitin_%20_protein_%20_ligase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZZANK1|"zinc_%20_finger_%2C__%20_ZZ_%20_type_%20_with_%20_ankyrin_%20_repeat_%20_domain_%20_1"_%2C__%20_"mindbomb_%20_homolog_%20_2_%20_(Drosophila)"|skeletrophin_%2C__%20_ZZZ5_%2C__%20_FLJ39787||1p36.33|2016-04-25|2005-04-01|2012-02-23|AK097106||142678|ENSG00000197530|12761501|NM_080875|91_%7C_403|Zinc_%20_fingers_%20_ZZ-type_%7C_Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS41224_%2C__%20_CCDS53261_%2C__%20_CCDS53262_%2C__%20_CCDS53263_%2C__%20_CCDS53264|OTTHUMG00000074647|142678|611141|NM_001170686|Q96AX9|ENSG00000197530|uc001agg.4|MIB2_HUMAN||A2AGM5_%7C_A2AGM6_%7C_B3KV93_%7C_B3KVF4_%7C_B3KXY1_%7C_B4DZ57_%7C_E9PGU1_%7C_E9PHQ1_%7C_F8WA73_%7C_J3KNZ7_%7C_Q7Z437_%7C_Q8IY62_%7C_Q8N786_%7C_Q8N897_%7C_Q8N8R2_%7C_Q8N911_%7C_Q8NB36_%7C_Q8NCY1_%7C_Q8NG59_%7C_Q8NG60_%7C_Q8NG61_%7C_Q8NI59_%7C_Q8WYN1|Q96AX9|Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)|early_%20_endosome_%20_(GO:0005769)_%7C_ubiquitin_%20_ligase_%20_complex_%20_(GO:0000151)|ligase_%20_activity_%20_(GO:0016874)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false||false|false|||false|false|false|MIB2:142678|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|199741261|1550992|false|false|0|true|0|false|0.998798_%2C_0.00120201|false|false|false|SNV|true|0x050100020605040402000100|1|false|137|rs199741261|] -chr1 1560103 rs28635343 C T . PASS FUNCOTATION=[MIB2|hg19|chr1|1560103|1560103|INTRON||SNP|C|C|T|g.chr1:1560103C>T|ENST00000505820.2|+|||c.e5-72C>T|||0.6433915211970075|CTGCATCGCTCTCCCAAGTGG|MIB2_ENST00000520777.1_INTRON/MIB2_ENST00000504599.1_INTRON/MIB2_ENST00000355826.5_INTRON/MIB2_ENST00000378708.1_INTRON/MIB2_ENST00000518681.1_INTRON/MIB2_ENST00000378712.1_INTRON/MIB2_ENST00000357210.4_INTRON/MIB2_ENST00000360522.4_INTRON/MIB2_ENST00000378710.3_INTRON/MIB2_ENST00000512004.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC037542|||HGNC:30577|mindbomb_%20_E3_%20_ubiquitin_%20_protein_%20_ligase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZZANK1|"zinc_%20_finger_%2C__%20_ZZ_%20_type_%20_with_%20_ankyrin_%20_repeat_%20_domain_%20_1"_%2C__%20_"mindbomb_%20_homolog_%20_2_%20_(Drosophila)"|skeletrophin_%2C__%20_ZZZ5_%2C__%20_FLJ39787||1p36.33|2016-04-25|2005-04-01|2012-02-23|AK097106||142678|ENSG00000197530|12761501|NM_080875|91_%7C_403|Zinc_%20_fingers_%20_ZZ-type_%7C_Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS41224_%2C__%20_CCDS53261_%2C__%20_CCDS53262_%2C__%20_CCDS53263_%2C__%20_CCDS53264|OTTHUMG00000074647|142678|611141|NM_001170686|Q96AX9|ENSG00000197530|uc001agg.4|MIB2_HUMAN||A2AGM5_%7C_A2AGM6_%7C_B3KV93_%7C_B3KVF4_%7C_B3KXY1_%7C_B4DZ57_%7C_E9PGU1_%7C_E9PHQ1_%7C_F8WA73_%7C_J3KNZ7_%7C_Q7Z437_%7C_Q8IY62_%7C_Q8N786_%7C_Q8N897_%7C_Q8N8R2_%7C_Q8N911_%7C_Q8NB36_%7C_Q8NCY1_%7C_Q8NG59_%7C_Q8NG60_%7C_Q8NG61_%7C_Q8NI59_%7C_Q8WYN1|Q96AX9|Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)|early_%20_endosome_%20_(GO:0005769)_%7C_ubiquitin_%20_ligase_%20_complex_%20_(GO:0000151)|ligase_%20_activity_%20_(GO:0016874)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.7596_%2C_0.2404|false|false|1||false|true|true|MIB2:142678|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28635343|1560103|false|false|0|true|0|false|0.816265_%2C_0.183735|false|false|false|SNV|true|0x050100080005170536000100|1|false|125|rs28635343|] -chr1 1562786 exm2250001 C T . PASS FUNCOTATION=[MIB2|hg19|chr1|1562786|1562786|SILENT||SNP|C|C|T|g.chr1:1562786C>T|ENST00000505820.2|+|12|1847|c.1830C>T|c.(1828-1830)gaC>gaT|p.D610D|0.71571072319202|ACCTGCCGGACGACGAGGGCA|MIB2_ENST00000520777.1_SILENT_p.D606D/MIB2_ENST00000504599.1_SILENT_p.D509D/MIB2_ENST00000355826.5_SILENT_p.D596D/MIB2_ENST00000378708.1_SILENT_p.D459D/MIB2_ENST00000518681.1_SILENT_p.D545D/MIB2_ENST00000378712.1_SILENT_p.D430D/MIB2_ENST00000357210.4_SILENT_p.D553D/MIB2_ENST00000360522.4_SILENT_p.D518D/MIB2_ENST00000378710.3_SILENT_p.D517D/MMP23B_ENST00000356026.5_FIVE_PRIME_FLANK/MMP23B_ENST00000378675.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC037542|||HGNC:30577|mindbomb_%20_E3_%20_ubiquitin_%20_protein_%20_ligase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZZANK1|"zinc_%20_finger_%2C__%20_ZZ_%20_type_%20_with_%20_ankyrin_%20_repeat_%20_domain_%20_1"_%2C__%20_"mindbomb_%20_homolog_%20_2_%20_(Drosophila)"|skeletrophin_%2C__%20_ZZZ5_%2C__%20_FLJ39787||1p36.33|2016-04-25|2005-04-01|2012-02-23|AK097106||142678|ENSG00000197530|12761501|NM_080875|91_%7C_403|Zinc_%20_fingers_%20_ZZ-type_%7C_Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS41224_%2C__%20_CCDS53261_%2C__%20_CCDS53262_%2C__%20_CCDS53263_%2C__%20_CCDS53264|OTTHUMG00000074647|142678|611141|NM_001170686|Q96AX9|ENSG00000197530|uc001agg.4|MIB2_HUMAN||A2AGM5_%7C_A2AGM6_%7C_B3KV93_%7C_B3KVF4_%7C_B3KXY1_%7C_B4DZ57_%7C_E9PGU1_%7C_E9PHQ1_%7C_F8WA73_%7C_J3KNZ7_%7C_Q7Z437_%7C_Q8IY62_%7C_Q8N786_%7C_Q8N897_%7C_Q8N8R2_%7C_Q8N911_%7C_Q8NB36_%7C_Q8NCY1_%7C_Q8NG59_%7C_Q8NG60_%7C_Q8NG61_%7C_Q8NI59_%7C_Q8WYN1|Q96AX9|Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)|early_%20_endosome_%20_(GO:0005769)_%7C_ubiquitin_%20_ligase_%20_complex_%20_(GO:0000151)|ligase_%20_activity_%20_(GO:0016874)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.992_%2C_0.007987|false|false|1||false|false|false|MIB2:142678|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|75855249|1562786|false|true|0|true|0|true|0.981249_%2C_0.0187513|false|false|false|SNV|true|0x050300000305040436000100|1|false|131|rs75855249|] -chr1 1565032 exm4160 G A . PASS FUNCOTATION=[MIB2|hg19|chr1|1565032|1565032|SILENT||SNP|G|G|A|g.chr1:1565032G>A|ENST00000505820.2|+|19|2939|c.2922G>A|c.(2920-2922)agG>agA|p.R974R|0.713216957605985|GCGCGCGCAGGATGAAGAAGT|MIB2_ENST00000520777.1_SILENT_p.R970R/MIB2_ENST00000504599.1_SILENT_p.R873R/MIB2_ENST00000355826.5_SILENT_p.R960R/MIB2_ENST00000378708.1_SILENT_p.R823R/MIB2_ENST00000378712.1_MISSENSE_p.D734N/MIB2_ENST00000518681.1_SILENT_p.R909R/MIB2_ENST00000357210.4_SILENT_p.R917R/MIB2_ENST00000360522.4_SILENT_p.R882R/MIB2_ENST00000378710.3_SILENT_p.R881R/MMP23B_ENST00000356026.5_FIVE_PRIME_FLANK/MMP23B_ENST00000378675.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC037542|||HGNC:30577|mindbomb_%20_E3_%20_ubiquitin_%20_protein_%20_ligase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZZANK1|"zinc_%20_finger_%2C__%20_ZZ_%20_type_%20_with_%20_ankyrin_%20_repeat_%20_domain_%20_1"_%2C__%20_"mindbomb_%20_homolog_%20_2_%20_(Drosophila)"|skeletrophin_%2C__%20_ZZZ5_%2C__%20_FLJ39787||1p36.33|2016-04-25|2005-04-01|2012-02-23|AK097106||142678|ENSG00000197530|12761501|NM_080875|91_%7C_403|Zinc_%20_fingers_%20_ZZ-type_%7C_Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS41224_%2C__%20_CCDS53261_%2C__%20_CCDS53262_%2C__%20_CCDS53263_%2C__%20_CCDS53264|OTTHUMG00000074647|142678|611141|NM_001170686|Q96AX9|ENSG00000197530|uc001agg.4|MIB2_HUMAN||A2AGM5_%7C_A2AGM6_%7C_B3KV93_%7C_B3KVF4_%7C_B3KXY1_%7C_B4DZ57_%7C_E9PGU1_%7C_E9PHQ1_%7C_F8WA73_%7C_J3KNZ7_%7C_Q7Z437_%7C_Q8IY62_%7C_Q8N786_%7C_Q8N897_%7C_Q8N8R2_%7C_Q8N911_%7C_Q8NB36_%7C_Q8NCY1_%7C_Q8NG59_%7C_Q8NG60_%7C_Q8NG61_%7C_Q8NI59_%7C_Q8WYN1|Q96AX9|Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)|early_%20_endosome_%20_(GO:0005769)_%7C_ubiquitin_%20_ligase_%20_complex_%20_(GO:0000151)|ligase_%20_activity_%20_(GO:0016874)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|MIB2:142678|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200777664|1565032|false|false|0|false|0|true|0.99945_%2C_0.000549526|false|false|false|SNV|true|0x050000000b05040426000100|1|false|137|rs200777664|] -chr1 1566160 rs28464684 T C . PASS FUNCOTATION=[MMP23B|hg19|chr1|1566160|1566160|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:1566160T>C|ENST00000356026.5|+||||||0.743142144638404|AGGACACCCTTCAGGCGCGGG|MMP23B_ENST00000378675.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||120|central_nervous_system(22)_%7C_lung(98)|||||||BC025719|||HGNC:7171|matrix_%20_metallopeptidase_%20_23B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MMP22|"matrix_%20_metalloproteinase_%20_23B"|MIFR_%2C__%20_MIFR-1|"matrix_%20_metalloproteinase_%20_22"_%2C__%20_"femalysin"_%2C__%20_"matrix_%20_metalloproteinase_%20_in_%20_the_%20_female_%20_reproductive_%20_tract"|1p36.33|2016-10-05||2005-08-08|||8510|ENSG00000189409|9740677_%2C__%20_9750192|NM_006983|594_%7C_891|Immunoglobulin_%20_like_%20_domain_%20_containing_%7C_M10_%20_matrix_%20_metallopeptidases|CCDS30559|OTTHUMG00000074713|8510|603321|NM_006983|O75900|ENSG00000189409|uc057bhg.1|MMP23_HUMAN|Marimastat(DB00786)|A2AGN0_%7C_A2AGN1_%7C_O75894_%7C_O75895_%7C_Q5QPQ8_%7C_Q76P96_%7C_Q7LDM6_%7C_Q7LDM7_%7C_Q9UBR9_%7C_Q9UJK8|O75900|proteolysis_%20_(GO:0006508)_%7C_reproduction_%20_(GO:0000003)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intracellular_%20_(GO:0005622)_%7C_proteinaceous_%20_extracellular_%20_matrix_%20_(GO:0005578)|metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_metallopeptidase_%20_activity_%20_(GO:0008237)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1572310 exm2250017 C T . PASS FUNCOTATION=[CDK11B|hg19|chr1|1572310|1572310|SILENT||SNP|C|C|T|g.chr1:1572310C>T|ENST00000407249.3|-|17|1758|c.1758G>A|c.(1756-1758)ccG>ccA|p.P586P|0.655860349127182|TCACCACGACCGGGGTGTAGG|CDK11B_ENST00000317673.7_SILENT_p.P584P/CDK11B_ENST00000340677.5_SILENT_p.P573P/CDK11B_ENST00000341832.6_SILENT_p.P539P|||||||||||||||||||||||||489|biliary_tract(2)_%7C_breast(27)_%7C_central_nervous_system(60)_%7C_haematopoietic_and_lymphoid_tissue(64)_%7C_kidney(46)_%7C_large_intestine(71)_%7C_lung(52)_%7C_oesophagus(1)_%7C_ovary(52)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||BC139777|||HGNC:1729|cyclin_%20_dependent_%20_kinase_%20_11B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CDC2L1|"cell_%20_division_%20_cycle_%20_2-like_%20_1_%20_(PITSLRE_%20_proteins)"|CDK11-p110_%2C__%20_CDK11-p58_%2C__%20_CDK11-p46||1p36.33|2016-06-08|2009-12-16|2016-06-08|AK000081||984|ENSG00000248333|1774066_%2C__%20_14511641_%2C__%20_19884882|NM_001787|496|Cyclin_%20_dependent_%20_kinases|CCDS72682_%2C__%20_CCDS72683_%2C__%20_CCDS72684|OTTHUMG00000078638|984|176873|NM_001291345|P21127|ENSG00000248333|uc031tml.2|CD11B_HUMAN||O95265_%7C_Q12817_%7C_Q12818_%7C_Q12819_%7C_Q12820_%7C_Q12822_%7C_Q8N530_%7C_Q9NZS5_%7C_Q9UBJ0_%7C_Q9UBQ1_%7C_Q9UBR0_%7C_Q9UNY2_%7C_Q9UP57_%7C_Q9UP58_%7C_Q9UP59|P21127|apoptotic_%20_process_%20_(GO:0006915)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0001558)_%7C_regulation_%20_of_%20_mRNA_%20_processing_%20_(GO:0050684)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004693)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1601104 exm4292 G A . PASS FUNCOTATION=[SLC35E2B|hg19|chr1|1601104|1601104|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1601104G>A|ENST00000378662.1|-|8|1594|c.833C>T|c.(832-834)aCg>aTg|p.T278M|0.6109725685785536|GAAACCCACCGTAAAGAAAAC|SLC35E2B_ENST00000234800.6_SPLICE_SITE_p.T278M/RP11-345P4.7_ENST00000596308.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CR936618|||HGNC:33941|solute_%20_carrier_%20_family_%20_35_%20_member_%20_E2B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_35_%2C__%20_member_%20_E2B"|||1p36.33|2015-12-04||2015-12-04|||728661|ENSG00000189339|||752|Solute_%20_carriers|CCDS44041|OTTHUMG00000078639|728661||NM_001110781|P0CK96|ENSG00000189339|uc057bht.1|S352B_HUMAN||B3KWR0_%7C_O75035_%7C_Q2TAY8_%7C_Q569F8_%7C_Q5CZA4_%7C_Q9Y3J8|P0CK96||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1601537 variant.241 G A . PASS FUNCOTATION=[SLC35E2B|hg19|chr1|1601537|1601537|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1601537G>A|ENST00000378662.1|-|7|1522|c.761C>T|c.(760-762)tCg>tTg|p.S254L|0.5112219451371571|TAATACTTACGAGAACCTGTA|SLC35E2B_ENST00000234800.6_SPLICE_SITE_p.S254L/RP11-345P4.7_ENST00000596308.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CR936618|||HGNC:33941|solute_%20_carrier_%20_family_%20_35_%20_member_%20_E2B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_35_%2C__%20_member_%20_E2B"|||1p36.33|2015-12-04||2015-12-04|||728661|ENSG00000189339|||752|Solute_%20_carriers|CCDS44041|OTTHUMG00000078639|728661||NM_001110781|P0CK96|ENSG00000189339|uc057bht.1|S352B_HUMAN||B3KWR0_%7C_O75035_%7C_Q2TAY8_%7C_Q569F8_%7C_Q5CZA4_%7C_Q9Y3J8|P0CK96||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1611995 exm2264793 A G . PASS FUNCOTATION=[SLC35E2B|hg19|chr1|1611995|1611995|INTRON||SNP|A|A|G|g.chr1:1611995A>G|ENST00000378662.1|-|||c.e3+3710T>C|||0.6209476309226932|AGCCAACGTCACACCGACCTG|SLC35E2B_ENST00000234800.6_INTRON|||||||||||||||||||||||||||||||||CR936618|||HGNC:33941|solute_%20_carrier_%20_family_%20_35_%20_member_%20_E2B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_35_%2C__%20_member_%20_E2B"|||1p36.33|2015-12-04||2015-12-04|||728661|ENSG00000189339|||752|Solute_%20_carriers|CCDS44041|OTTHUMG00000078639|728661||NM_001110781|P0CK96|ENSG00000189339|uc057bht.1|S352B_HUMAN||B3KWR0_%7C_O75035_%7C_Q2TAY8_%7C_Q569F8_%7C_Q5CZA4_%7C_Q9Y3J8|P0CK96||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1647686 rs909823 A C . PASS FUNCOTATION=[CDK11A|hg19|chr1|1647686|1647686|INTRON||SNP|A|A|C|g.chr1:1647686A>C|ENST00000358779.5|-|||c.e5-99T>G|||0.5037406483790524|CACTTCTGCAACAAATGTGAC|CDK11A_ENST00000356200.3_INTRON/CDK11A_ENST00000378633.1_INTRON/CDK11A_ENST00000404249.3_INTRON/CDK11A_ENST00000357760.2_INTRON/CDK11A_ENST00000378638.2_INTRON/CDK11A_ENST00000378635.3_INTRON/RP1-283E3.8_ENST00000598846.1_RNA|Pancreas(186_%3B_965_%20_2119_%20_30274_%20_40311_%20_50569)||||||||||||||||||||||||15|oesophagus(1)_%7C_stomach(14)|||||||U07705|NM_033529.2|NP_277071.2|HGNC:1730|cyclin_%20_dependent_%20_kinase_%20_11A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CDC2L3_%2C__%20_CDC2L2|"cell_%20_division_%20_cycle_%20_2-like_%20_2"_%2C__%20_"cell_%20_division_%20_cycle_%20_2-like_%20_2_%20_(PITSLRE_%20_proteins)"|PITSLRE_%2C__%20_CDK11-p110_%2C__%20_CDK11-p58_%2C__%20_CDK11-p46_%2C__%20_p58GTA||1p36.33|2016-06-08|2009-12-16|2016-06-08|AF067522||728642|ENSG00000008128|7920654_%2C__%20_9750192_%2C__%20_19884882|NM_024011|496|Cyclin_%20_dependent_%20_kinases|CCDS44042_%2C__%20_CCDS44043_%2C__%20_CCDS81253_%2C__%20_CCDS81254|OTTHUMG00000000703|728642|116951|NM_001313896|Q9UQ88|ENSG00000008128|uc009vks.4|CD11A_HUMAN||O95227_%7C_O95228_%7C_O96012_%7C_Q12821_%7C_Q12853_%7C_Q12854_%7C_Q2TAJ0_%7C_Q5QPR0_%7C_Q5QPR1_%7C_Q5QPR2_%7C_Q9UBC4_%7C_Q9UBI3_%7C_Q9UEI1_%7C_Q9UEI2_%7C_Q9UP53_%7C_Q9UP54_%7C_Q9UP55_%7C_Q9UP56_%7C_Q9UQ86_%7C_Q9UQ87_%7C_Q9UQ89|Q9UQ88|apoptotic_%20_process_%20_(GO:0006915)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0001558)_%7C_regulation_%20_of_%20_mRNA_%20_processing_%20_(GO:0050684)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004693)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||true|false|0.248_%2C_0.752|false|false|1||false|true|true|CDK11A:728642|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|909823|1647686|false|false|0|true|0|false||false|false|false|SNV|true|0x05010008000517053f000100|1|false|86|rs909823|] -chr1 1647780 var_1_1647780 C T . PASS FUNCOTATION=[CDK11A|hg19|chr1|1647780|1647780|INTRON||SNP|C|C|T|g.chr1:1647780C>T|ENST00000358779.5|-|||c.e5-5G>A|||0.47880299251870323|ACCCAGCCCACTCACCTTTCT|CDK11A_ENST00000356200.3_INTRON/CDK11A_ENST00000378633.1_INTRON/CDK11A_ENST00000404249.3_INTRON/CDK11A_ENST00000357760.2_INTRON/CDK11A_ENST00000378638.2_INTRON/CDK11A_ENST00000378635.3_INTRON/RP1-283E3.8_ENST00000598846.1_RNA|Pancreas(186_%3B_965_%20_2119_%20_30274_%20_40311_%20_50569)||||||||||||||||||||||||15|oesophagus(1)_%7C_stomach(14)|||||||U07705|NM_033529.2|NP_277071.2|HGNC:1730|cyclin_%20_dependent_%20_kinase_%20_11A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CDC2L3_%2C__%20_CDC2L2|"cell_%20_division_%20_cycle_%20_2-like_%20_2"_%2C__%20_"cell_%20_division_%20_cycle_%20_2-like_%20_2_%20_(PITSLRE_%20_proteins)"|PITSLRE_%2C__%20_CDK11-p110_%2C__%20_CDK11-p58_%2C__%20_CDK11-p46_%2C__%20_p58GTA||1p36.33|2016-06-08|2009-12-16|2016-06-08|AF067522||728642|ENSG00000008128|7920654_%2C__%20_9750192_%2C__%20_19884882|NM_024011|496|Cyclin_%20_dependent_%20_kinases|CCDS44042_%2C__%20_CCDS44043_%2C__%20_CCDS81253_%2C__%20_CCDS81254|OTTHUMG00000000703|728642|116951|NM_001313896|Q9UQ88|ENSG00000008128|uc009vks.4|CD11A_HUMAN||O95227_%7C_O95228_%7C_O96012_%7C_Q12821_%7C_Q12853_%7C_Q12854_%7C_Q2TAJ0_%7C_Q5QPR0_%7C_Q5QPR1_%7C_Q5QPR2_%7C_Q9UBC4_%7C_Q9UBI3_%7C_Q9UEI1_%7C_Q9UEI2_%7C_Q9UP53_%7C_Q9UP54_%7C_Q9UP55_%7C_Q9UP56_%7C_Q9UQ86_%7C_Q9UQ87_%7C_Q9UQ89|Q9UQ88|apoptotic_%20_process_%20_(GO:0006915)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0001558)_%7C_regulation_%20_of_%20_mRNA_%20_processing_%20_(GO:0050684)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004693)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|CDK11A:728642|false|true|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|370303160|1647780|false|false|0|false|0|false||false|false|false|SNV|true|0x050000080005040426000100|1|false|138|rs370303160|] -chr1 1647785 indel.249 CT C . PASS FUNCOTATION=[CDK11A|hg19|chr1|1647786|1647786|SPLICE_SITE|FRAME_SHIFT_DEL|DEL|T|T|-|g.chr1:1647786delT|ENST00000358779.5|-|5|538|c.457delA|c.(457-459)aggfs|p.R153fs|0.48129675810473815|CCCACTCACCTTTCTCTCCTG|CDK11A_ENST00000356200.3_SPLICE_SITE_p.R129fs/CDK11A_ENST00000378633.1_SPLICE_SITE_p.R153fs/CDK11A_ENST00000404249.3_SPLICE_SITE_p.R163fs/CDK11A_ENST00000357760.2_SPLICE_SITE_p.R153fs/CDK11A_ENST00000378638.2_SPLICE_SITE_p.R129fs/CDK11A_ENST00000378635.3_SPLICE_SITE_p.S153fs/RP1-283E3.8_ENST00000598846.1_SPLICE_SITE|Pancreas(186_%3B_965_%20_2119_%20_30274_%20_40311_%20_50569)||||||||||||||||||||||||15|oesophagus(1)_%7C_stomach(14)|||||||U07705|NM_033529.2|NP_277071.2|HGNC:1730|cyclin_%20_dependent_%20_kinase_%20_11A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CDC2L3_%2C__%20_CDC2L2|"cell_%20_division_%20_cycle_%20_2-like_%20_2"_%2C__%20_"cell_%20_division_%20_cycle_%20_2-like_%20_2_%20_(PITSLRE_%20_proteins)"|PITSLRE_%2C__%20_CDK11-p110_%2C__%20_CDK11-p58_%2C__%20_CDK11-p46_%2C__%20_p58GTA||1p36.33|2016-06-08|2009-12-16|2016-06-08|AF067522||728642|ENSG00000008128|7920654_%2C__%20_9750192_%2C__%20_19884882|NM_024011|496|Cyclin_%20_dependent_%20_kinases|CCDS44042_%2C__%20_CCDS44043_%2C__%20_CCDS81253_%2C__%20_CCDS81254|OTTHUMG00000000703|728642|116951|NM_001313896|Q9UQ88|ENSG00000008128|uc009vks.4|CD11A_HUMAN||O95227_%7C_O95228_%7C_O96012_%7C_Q12821_%7C_Q12853_%7C_Q12854_%7C_Q2TAJ0_%7C_Q5QPR0_%7C_Q5QPR1_%7C_Q5QPR2_%7C_Q9UBC4_%7C_Q9UBI3_%7C_Q9UEI1_%7C_Q9UEI2_%7C_Q9UP53_%7C_Q9UP54_%7C_Q9UP55_%7C_Q9UP56_%7C_Q9UQ86_%7C_Q9UQ87_%7C_Q9UQ89|Q9UQ88|apoptotic_%20_process_%20_(GO:0006915)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0001558)_%7C_regulation_%20_of_%20_mRNA_%20_processing_%20_(GO:0050684)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004693)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||true|false||false|false|||false|false|false|CDK11A:728642|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|748188287|1647786|false|false|0|false|0|false||false|false|true|DIV|false|0x050000401205000402000200|1|false|144|rs748188287|] -chr1 1647785 indel.249 CT C . PASS FUNCOTATION=[CDK11A|hg19|chr1|1647786|1647786|SPLICE_SITE|FRAME_SHIFT_DEL|DEL|T|T|-|g.chr1:1647786delT|ENST00000358779.5|-|5|538|c.457delA|c.(457-459)aggfs|p.R153fs|0.48129675810473815|CCCACTCACCTTTCTCTCCTG|CDK11A_ENST00000356200.3_SPLICE_SITE_p.R129fs/CDK11A_ENST00000378633.1_SPLICE_SITE_p.R153fs/CDK11A_ENST00000404249.3_SPLICE_SITE_p.R163fs/CDK11A_ENST00000357760.2_SPLICE_SITE_p.R153fs/CDK11A_ENST00000378638.2_SPLICE_SITE_p.R129fs/CDK11A_ENST00000378635.3_SPLICE_SITE_p.S153fs/RP1-283E3.8_ENST00000598846.1_SPLICE_SITE|Pancreas(186_%3B_965_%20_2119_%20_30274_%20_40311_%20_50569)||||||||||||||||||||||||15|oesophagus(1)_%7C_stomach(14)|||||||U07705|NM_033529.2|NP_277071.2|HGNC:1730|cyclin_%20_dependent_%20_kinase_%20_11A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CDC2L3_%2C__%20_CDC2L2|"cell_%20_division_%20_cycle_%20_2-like_%20_2"_%2C__%20_"cell_%20_division_%20_cycle_%20_2-like_%20_2_%20_(PITSLRE_%20_proteins)"|PITSLRE_%2C__%20_CDK11-p110_%2C__%20_CDK11-p58_%2C__%20_CDK11-p46_%2C__%20_p58GTA||1p36.33|2016-06-08|2009-12-16|2016-06-08|AF067522||728642|ENSG00000008128|7920654_%2C__%20_9750192_%2C__%20_19884882|NM_024011|496|Cyclin_%20_dependent_%20_kinases|CCDS44042_%2C__%20_CCDS44043_%2C__%20_CCDS81253_%2C__%20_CCDS81254|OTTHUMG00000000703|728642|116951|NM_001313896|Q9UQ88|ENSG00000008128|uc009vks.4|CD11A_HUMAN||O95227_%7C_O95228_%7C_O96012_%7C_Q12821_%7C_Q12853_%7C_Q12854_%7C_Q2TAJ0_%7C_Q5QPR0_%7C_Q5QPR1_%7C_Q5QPR2_%7C_Q9UBC4_%7C_Q9UBI3_%7C_Q9UEI1_%7C_Q9UEI2_%7C_Q9UP53_%7C_Q9UP54_%7C_Q9UP55_%7C_Q9UP56_%7C_Q9UQ86_%7C_Q9UQ87_%7C_Q9UQ89|Q9UQ88|apoptotic_%20_process_%20_(GO:0006915)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0001558)_%7C_regulation_%20_of_%20_mRNA_%20_processing_%20_(GO:0050684)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004693)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||true|false||false|false|||false|false|false|CDK11A:728642|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|748188287|1647786|false|false|0|false|0|false||false|false|true|DIV|false|0x050000401205000402000200|1|false|144|rs748188287|] -chr1 1647858 var_1_1647858 G A . PASS FUNCOTATION=[CDK11A|hg19|chr1|1647858|1647858|NONSENSE||SNP|G|G|A|g.chr1:1647858G>A|ENST00000358779.5|-|5|465|c.385C>T|c.(385-387)Cag>Tag|p.Q129*|0.4912718204488778|GCTTTATCCTGTTCTTCTCGA|CDK11A_ENST00000356200.3_NONSENSE_p.Q105*/CDK11A_ENST00000378633.1_NONSENSE_p.Q129*/CDK11A_ENST00000404249.3_NONSENSE_p.Q139*/CDK11A_ENST00000357760.2_NONSENSE_p.Q129*/CDK11A_ENST00000378638.2_NONSENSE_p.Q105*/CDK11A_ENST00000378635.3_NONSENSE_p.Q129*/RP1-283E3.8_ENST00000598846.1_RNA|Pancreas(186_%3B_965_%20_2119_%20_30274_%20_40311_%20_50569)||||||||||||||||||||||||15|oesophagus(1)_%7C_stomach(14)|||||||U07705|NM_033529.2|NP_277071.2|HGNC:1730|cyclin_%20_dependent_%20_kinase_%20_11A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CDC2L3_%2C__%20_CDC2L2|"cell_%20_division_%20_cycle_%20_2-like_%20_2"_%2C__%20_"cell_%20_division_%20_cycle_%20_2-like_%20_2_%20_(PITSLRE_%20_proteins)"|PITSLRE_%2C__%20_CDK11-p110_%2C__%20_CDK11-p58_%2C__%20_CDK11-p46_%2C__%20_p58GTA||1p36.33|2016-06-08|2009-12-16|2016-06-08|AF067522||728642|ENSG00000008128|7920654_%2C__%20_9750192_%2C__%20_19884882|NM_024011|496|Cyclin_%20_dependent_%20_kinases|CCDS44042_%2C__%20_CCDS44043_%2C__%20_CCDS81253_%2C__%20_CCDS81254|OTTHUMG00000000703|728642|116951|NM_001313896|Q9UQ88|ENSG00000008128|uc009vks.4|CD11A_HUMAN||O95227_%7C_O95228_%7C_O96012_%7C_Q12821_%7C_Q12853_%7C_Q12854_%7C_Q2TAJ0_%7C_Q5QPR0_%7C_Q5QPR1_%7C_Q5QPR2_%7C_Q9UBC4_%7C_Q9UBI3_%7C_Q9UEI1_%7C_Q9UEI2_%7C_Q9UP53_%7C_Q9UP54_%7C_Q9UP55_%7C_Q9UP56_%7C_Q9UQ86_%7C_Q9UQ87_%7C_Q9UQ89|Q9UQ88|apoptotic_%20_process_%20_(GO:0006915)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0001558)_%7C_regulation_%20_of_%20_mRNA_%20_processing_%20_(GO:0050684)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004693)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|CDK11A:728642|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|201054761|1647858|false|false|0|false|0|false|0.999897_%2C_0.000103277|false|false|true|SNV|true|0x050000400605040436000100|1|false|137|rs201054761|] -chr1 1650787 exm4399 T C . PASS FUNCOTATION=[CDK11A|hg19|chr1|1650787|1650787|INTRON||SNP|T|T|C|g.chr1:1650787T>C|ENST00000358779.5|-|||c.e4-10A>G|||0.4164588528678304|TGAATGGCTATGATGCCTACA|CDK11A_ENST00000356200.3_MISSENSE_p.H78R/CDK11A_ENST00000404249.3_MISSENSE_p.H112R/CDK11A_ENST00000378638.2_MISSENSE_p.H78R/CDK11A_ENST00000378633.1_INTRON/CDK11A_ENST00000357760.2_INTRON/CDK11A_ENST00000378635.3_INTRON/RP1-283E3.8_ENST00000598846.1_RNA|Pancreas(186_%3B_965_%20_2119_%20_30274_%20_40311_%20_50569)||||||||||||||||||||||||15|oesophagus(1)_%7C_stomach(14)|||||||U07705|NM_033529.2|NP_277071.2|HGNC:1730|cyclin_%20_dependent_%20_kinase_%20_11A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CDC2L3_%2C__%20_CDC2L2|"cell_%20_division_%20_cycle_%20_2-like_%20_2"_%2C__%20_"cell_%20_division_%20_cycle_%20_2-like_%20_2_%20_(PITSLRE_%20_proteins)"|PITSLRE_%2C__%20_CDK11-p110_%2C__%20_CDK11-p58_%2C__%20_CDK11-p46_%2C__%20_p58GTA||1p36.33|2016-06-08|2009-12-16|2016-06-08|AF067522||728642|ENSG00000008128|7920654_%2C__%20_9750192_%2C__%20_19884882|NM_024011|496|Cyclin_%20_dependent_%20_kinases|CCDS44042_%2C__%20_CCDS44043_%2C__%20_CCDS81253_%2C__%20_CCDS81254|OTTHUMG00000000703|728642|116951|NM_001313896|Q9UQ88|ENSG00000008128|uc009vks.4|CD11A_HUMAN||O95227_%7C_O95228_%7C_O96012_%7C_Q12821_%7C_Q12853_%7C_Q12854_%7C_Q2TAJ0_%7C_Q5QPR0_%7C_Q5QPR1_%7C_Q5QPR2_%7C_Q9UBC4_%7C_Q9UBI3_%7C_Q9UEI1_%7C_Q9UEI2_%7C_Q9UP53_%7C_Q9UP54_%7C_Q9UP55_%7C_Q9UP56_%7C_Q9UQ86_%7C_Q9UQ87_%7C_Q9UQ89|Q9UQ88|apoptotic_%20_process_%20_(GO:0006915)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0001558)_%7C_regulation_%20_of_%20_mRNA_%20_processing_%20_(GO:0050684)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004693)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||true|false||false|false|||false|true|true|CDK11A:728642|true|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|1137003|1650787|false|false|0|true|16|false|0.999966_%2C_3.44234e-005|false|false|true|SNV|true|0x050100480a05070516000140|1|false|130|rs1137003|] -chr1 1663831 rs3817856 C T . PASS FUNCOTATION=[SLC35E2|hg19|chr1|1663831|1663831|INTRON||SNP|C|C|T|g.chr1:1663831C>T|ENST00000355439.2|-|||c.e6-2298G>A|||0.516209476309227|CAGGAGACCACCATGAGTTCC|SLC35E2_ENST00000246421.4_THREE_PRIME_UTR/SLC35E2_ENST00000400924.1_INTRON/RP1-283E3.8_ENST00000598846.1_RNA/SLC35E2_ENST00000475229.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112289|NM_001199787.1|NP_001186716.1|HGNC:20863|solute_%20_carrier_%20_family_%20_35_%20_member_%20_E2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_35_%2C__%20_member_%20_E2"|KIAA0447||1p36.33|2015-12-04||2015-12-04|AB007916||9906|ENSG00000215790||XM_049733|752|Solute_%20_carriers|CCDS33_%2C__%20_CCDS55560|OTTHUMG00000000823|9906||NM_001199787|P0CK97|ENSG00000215790|uc001aia.3|S35E2_HUMAN||B3KWR0_%7C_O75035_%7C_Q2TAY8_%7C_Q569F8_%7C_Q5CZA4_%7C_Q5QPR8_%7C_Q9Y3J8|P0CK97||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.7141_%2C_0.2859|false|false|1||false|true|false|LOC101928920:101928920_%7C_SLC35E2:9906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3817856|1663831|false|false|0|true|0|false||false|true|false|SNV|true|0x0501008a000515053f000101|1|false|107|rs3817856|] -chr1 1663944 exm4428 G A . PASS FUNCOTATION=[SLC35E2|hg19|chr1|1663944|1663944|INTRON||SNP|G|G|A|g.chr1:1663944G>A|ENST00000355439.2|-|||c.e6-2185C>T|||0.571072319201995|AAGGCGACTCGGTGCAGGGCC|SLC35E2_ENST00000246421.4_NONSENSE_p.R251*/SLC35E2_ENST00000400924.1_INTRON/RP1-283E3.8_ENST00000598846.1_RNA/SLC35E2_ENST00000475229.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112289|NM_001199787.1|NP_001186716.1|HGNC:20863|solute_%20_carrier_%20_family_%20_35_%20_member_%20_E2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_35_%2C__%20_member_%20_E2"|KIAA0447||1p36.33|2015-12-04||2015-12-04|AB007916||9906|ENSG00000215790||XM_049733|752|Solute_%20_carriers|CCDS33_%2C__%20_CCDS55560|OTTHUMG00000000823|9906||NM_001199787|P0CK97|ENSG00000215790|uc001aia.3|S35E2_HUMAN||B3KWR0_%7C_O75035_%7C_Q2TAY8_%7C_Q569F8_%7C_Q5CZA4_%7C_Q5QPR8_%7C_Q9Y3J8|P0CK97||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|LOC101928920:101928920_%7C_SLC35E2:9906|false|true|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|146969326|1663944|false|false|0|false|0|false|0.998589_%2C_0.00141058|false|false|false|SNV|true|0x0500000a0605040436000100|1|false|134|rs146969326|] -chr1 1664019 rs2294488 T C . PASS FUNCOTATION=[SLC35E2|hg19|chr1|1664019|1664019|INTRON||SNP|T|T|C|g.chr1:1664019T>C|ENST00000355439.2|-|||c.e6-2110A>G|||0.5610972568578554|GCTGCGTGCGTGGTGCACAGC|SLC35E2_ENST00000246421.4_INTRON/SLC35E2_ENST00000400924.1_INTRON/RP1-283E3.8_ENST00000598846.1_RNA/SLC35E2_ENST00000475229.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112289|NM_001199787.1|NP_001186716.1|HGNC:20863|solute_%20_carrier_%20_family_%20_35_%20_member_%20_E2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_35_%2C__%20_member_%20_E2"|KIAA0447||1p36.33|2015-12-04||2015-12-04|AB007916||9906|ENSG00000215790||XM_049733|752|Solute_%20_carriers|CCDS33_%2C__%20_CCDS55560|OTTHUMG00000000823|9906||NM_001199787|P0CK97|ENSG00000215790|uc001aia.3|S35E2_HUMAN||B3KWR0_%7C_O75035_%7C_Q2TAY8_%7C_Q569F8_%7C_Q5CZA4_%7C_Q5QPR8_%7C_Q9Y3J8|P0CK97||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.3131_%2C_0.6869|false|false|1||false|true|true|LOC101928920:101928920_%7C_SLC35E2:9906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|2294488|1664019|false|false|0|true|0|false||false|false|false|SNV|true|0x0501000a000517053f000100|1|false|100|rs2294488|] -chr1 1664124 exm2268858 T C . PASS FUNCOTATION=[SLC35E2|hg19|chr1|1664124|1664124|INTRON||SNP|T|T|C|g.chr1:1664124T>C|ENST00000355439.2|-|||c.e6-2005A>G|||0.5386533665835411|TGTCCACCATTCCCGCCAGCC|SLC35E2_ENST00000246421.4_INTRON/SLC35E2_ENST00000400924.1_INTRON/RP1-283E3.8_ENST00000598846.1_RNA/SLC35E2_ENST00000475229.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112289|NM_001199787.1|NP_001186716.1|HGNC:20863|solute_%20_carrier_%20_family_%20_35_%20_member_%20_E2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_35_%2C__%20_member_%20_E2"|KIAA0447||1p36.33|2015-12-04||2015-12-04|AB007916||9906|ENSG00000215790||XM_049733|752|Solute_%20_carriers|CCDS33_%2C__%20_CCDS55560|OTTHUMG00000000823|9906||NM_001199787|P0CK97|ENSG00000215790|uc001aia.3|S35E2_HUMAN||B3KWR0_%7C_O75035_%7C_Q2TAY8_%7C_Q569F8_%7C_Q5CZA4_%7C_Q5QPR8_%7C_Q9Y3J8|P0CK97||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.4091_%2C_0.5909|false|false|1||false|true|false|SLC35E2:9906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2294489|1664124|false|false|0|true|0|false||false|false|false|SNV|true|0x05010008000515053f000100|1|false|100|rs2294489|] -chr1 1680219 rs1014988 G A . PASS FUNCOTATION=[SLC35E2|hg19|chr1|1680219|1680219|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:1680219G>A|ENST00000246421.4|-||||||0.516209476309227|GGGTCCAGGCGCTGTGCAAAC|SLC35E2_ENST00000355439.2_FIVE_PRIME_FLANK/SLC35E2_ENST00000400924.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112289|NM_182838.2|NP_878258.1|HGNC:20863|solute_%20_carrier_%20_family_%20_35_%20_member_%20_E2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_35_%2C__%20_member_%20_E2"|KIAA0447||1p36.33|2015-12-04||2015-12-04|AB007916||9906|ENSG00000215790||XM_049733|752|Solute_%20_carriers|CCDS33_%2C__%20_CCDS55560|OTTHUMG00000000823|9906||NM_001199787|P0CK97|ENSG00000215790|uc001aia.3|S35E2_HUMAN||B3KWR0_%7C_O75035_%7C_Q2TAY8_%7C_Q569F8_%7C_Q5CZA4_%7C_Q5QPR8_%7C_Q9Y3J8|P0CK97||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1684472 rs7407 C T . PASS FUNCOTATION=[NADK|hg19|chr1|1684472|1684472|SILENT||SNP|C|C|T|g.chr1:1684472C>T|ENST00000344463.4|-|14|1869|c.1647G>A|c.(1645-1647)ccG>ccA|p.P549P|0.6533665835411472|TGGAGGGGAGCGGGTAGCATG|NADK_ENST00000378625.1_SILENT_p.P549P/NADK_ENST00000341426.5_SILENT_p.P404P/NADK_ENST00000341991.3_SILENT_p.P404P/NADK_ENST00000342348.5_SILENT_p.P372P|||||||||||||||||||||||||45|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_salivary_gland(1)|||||||CH471183|||HGNC:29831|NAD_%20_kinase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13052||1p36.33|2014-11-19|||BC001709|2.7.1.23|65220|ENSG00000008130|11594753|NM_023018|||CCDS30565_%2C__%20_CCDS55561_%2C__%20_CCDS55562|OTTHUMG00000000942|65220|611616|NM_001198993|O95544|ENSG00000008130|uc001aid.5|NADK_HUMAN||A6NNN3_%7C_A8K296_%7C_B7Z434_%7C_F5GXR5_%7C_Q5QPS4_%7C_Q9H2P2_%7C_Q9H931|O95544|ATP_%20_metabolic_%20_process_%20_(GO:0046034)_%7C_NAD_%20_metabolic_%20_process_%20_(GO:0019674)_%7C_NADP_%20_biosynthetic_%20_process_%20_(GO:0006741)_%7C_phosphorylation_%20_(GO:0016310)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)|ATP_%20_binding_%20_(GO:0005524)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_NAD+_%20_kinase_%20_activity_%20_(GO:0003951)||||true|false|0.6603_%2C_0.3397|false|false|1||false|true|false|NADK:65220|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|7407|1684472|true|true|0|true|0|true|0.650972_%2C_0.349028|false|false|false|SNV|true|0x05030000030515053f000100|1|false|52|rs7407|] -chr1 1688096 exm4521 C T . PASS FUNCOTATION=[NADK|hg19|chr1|1688096|1688096|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1688096C>T|ENST00000344463.4|-|7|1002|c.780G>A|c.(778-780)ccG>ccA|p.P260P|0.5660847880299252|ACCCCACCCTCCTGCAGGGAG|NADK_ENST00000378625.1_SPLICE_SITE_p.P260P/NADK_ENST00000341426.5_INTRON/NADK_ENST00000341991.3_INTRON/NADK_ENST00000342348.5_INTRON/NADK_ENST00000492768.1_INTRON|||||||||||||||||||||||||45|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_salivary_gland(1)|||||||CH471183|||HGNC:29831|NAD_%20_kinase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13052||1p36.33|2014-11-19|||BC001709|2.7.1.23|65220|ENSG00000008130|11594753|NM_023018|||CCDS30565_%2C__%20_CCDS55561_%2C__%20_CCDS55562|OTTHUMG00000000942|65220|611616|NM_001198993|O95544|ENSG00000008130|uc001aid.5|NADK_HUMAN||A6NNN3_%7C_A8K296_%7C_B7Z434_%7C_F5GXR5_%7C_Q5QPS4_%7C_Q9H2P2_%7C_Q9H931|O95544|ATP_%20_metabolic_%20_process_%20_(GO:0046034)_%7C_NAD_%20_metabolic_%20_process_%20_(GO:0019674)_%7C_NADP_%20_biosynthetic_%20_process_%20_(GO:0006741)_%7C_phosphorylation_%20_(GO:0016310)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)|ATP_%20_binding_%20_(GO:0005524)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_NAD+_%20_kinase_%20_activity_%20_(GO:0003951)||||true|false|0.997_%2C_0.002995|false|false|1||false|false|false|NADK:65220|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|72634841|1688096|false|true|0|false|0|true|0.997115_%2C_0.00288481|false|false|false|SNV|true|0x05020008030504043e000100|1|false|130|rs72634841|] -chr1 1688096 exm4521 C T . PASS FUNCOTATION=[NADK|hg19|chr1|1688096|1688096|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1688096C>T|ENST00000344463.4|-|7|1002|c.780G>A|c.(778-780)ccG>ccA|p.P260P|0.5660847880299252|ACCCCACCCTCCTGCAGGGAG|NADK_ENST00000378625.1_SPLICE_SITE_p.P260P/NADK_ENST00000341426.5_INTRON/NADK_ENST00000341991.3_INTRON/NADK_ENST00000342348.5_INTRON/NADK_ENST00000492768.1_INTRON|||||||||||||||||||||||||45|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_salivary_gland(1)|||||||CH471183|||HGNC:29831|NAD_%20_kinase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13052||1p36.33|2014-11-19|||BC001709|2.7.1.23|65220|ENSG00000008130|11594753|NM_023018|||CCDS30565_%2C__%20_CCDS55561_%2C__%20_CCDS55562|OTTHUMG00000000942|65220|611616|NM_001198993|O95544|ENSG00000008130|uc001aid.5|NADK_HUMAN||A6NNN3_%7C_A8K296_%7C_B7Z434_%7C_F5GXR5_%7C_Q5QPS4_%7C_Q9H2P2_%7C_Q9H931|O95544|ATP_%20_metabolic_%20_process_%20_(GO:0046034)_%7C_NAD_%20_metabolic_%20_process_%20_(GO:0019674)_%7C_NADP_%20_biosynthetic_%20_process_%20_(GO:0006741)_%7C_phosphorylation_%20_(GO:0016310)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)|ATP_%20_binding_%20_(GO:0005524)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_NAD+_%20_kinase_%20_activity_%20_(GO:0003951)||||true|false|0.997_%2C_0.002995|false|false|1||false|false|false|NADK:65220|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|72634841|1688096|false|true|0|false|0|true|0.997115_%2C_0.00288481|false|false|false|SNV|true|0x05020008030504043e000100|1|false|130|rs72634841|] -chr1 1706136 rs6603811 T C . PASS FUNCOTATION=[NADK|hg19|chr1|1706136|1706136|INTRON||SNP|T|T|C|g.chr1:1706136T>C|ENST00000344463.4|-|||c.e1-3592A>G|||0.5486284289276808|TTGACAAGGGTGAGTCAGGAC|NADK_ENST00000378625.1_INTRON/NADK_ENST00000341426.5_INTRON/NADK_ENST00000341991.3_INTRON/NADK_ENST00000492768.1_INTRON|||||||||||||||||||||||||45|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_salivary_gland(1)|||||||CH471183|||HGNC:29831|NAD_%20_kinase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13052||1p36.33|2014-11-19|||BC001709|2.7.1.23|65220|ENSG00000008130|11594753|NM_023018|||CCDS30565_%2C__%20_CCDS55561_%2C__%20_CCDS55562|OTTHUMG00000000942|65220|611616|NM_001198993|O95544|ENSG00000008130|uc001aid.5|NADK_HUMAN||A6NNN3_%7C_A8K296_%7C_B7Z434_%7C_F5GXR5_%7C_Q5QPS4_%7C_Q9H2P2_%7C_Q9H931|O95544|ATP_%20_metabolic_%20_process_%20_(GO:0046034)_%7C_NAD_%20_metabolic_%20_process_%20_(GO:0019674)_%7C_NADP_%20_biosynthetic_%20_process_%20_(GO:0006741)_%7C_phosphorylation_%20_(GO:0016310)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)|ATP_%20_binding_%20_(GO:0005524)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_NAD+_%20_kinase_%20_activity_%20_(GO:0003951)||||true|false|0.2534_%2C_0.7466|false|false|1||false|true|false|NADK:65220|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6603811|1706136|false|false|0|true|0|false|0.237688_%2C_0.762312|false|false|false|SNV|true|0x05010008000515053f000100|1|false|116|rs6603811|] -chr1 1707740 rs12041925 T G . PASS FUNCOTATION=[NADK|hg19|chr1|1707740|1707740|INTRON||SNP|T|T|G|g.chr1:1707740T>G|ENST00000344463.4|-|||c.e1-1988A>C|||0.4513715710723192|GCCAACTTTCTGGGACACCCT|NADK_ENST00000378625.1_INTRON/NADK_ENST00000341426.5_INTRON/NADK_ENST00000341991.3_INTRON/NADK_ENST00000492768.1_INTRON|||||||||||||||||||||||||45|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_salivary_gland(1)|||||||CH471183|||HGNC:29831|NAD_%20_kinase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13052||1p36.33|2014-11-19|||BC001709|2.7.1.23|65220|ENSG00000008130|11594753|NM_023018|||CCDS30565_%2C__%20_CCDS55561_%2C__%20_CCDS55562|OTTHUMG00000000942|65220|611616|NM_001198993|O95544|ENSG00000008130|uc001aid.5|NADK_HUMAN||A6NNN3_%7C_A8K296_%7C_B7Z434_%7C_F5GXR5_%7C_Q5QPS4_%7C_Q9H2P2_%7C_Q9H931|O95544|ATP_%20_metabolic_%20_process_%20_(GO:0046034)_%7C_NAD_%20_metabolic_%20_process_%20_(GO:0019674)_%7C_NADP_%20_biosynthetic_%20_process_%20_(GO:0006741)_%7C_phosphorylation_%20_(GO:0016310)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)|ATP_%20_binding_%20_(GO:0005524)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_NAD+_%20_kinase_%20_activity_%20_(GO:0003951)||||true|false|0.8019_%2C_0.1981|false|false|1||false|true|true|NADK:65220|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|12041925|1707740|false|false|0|true|0|false|0.749193_%2C_0.250807|false|false|false|SNV|true|0x05010008000517053f000100|1|false|120|rs12041925|] -chr1 1715011 rs742359 C A . PASS FUNCOTATION=[NADK|hg19|chr1|1715011|1715011|FIVE_PRIME_FLANK||SNP|C|C|A|g.chr1:1715011C>A|ENST00000341991.3|-||||||0.600997506234414|CAGCACCTTGCCTGGAGCAGG|NADK_ENST00000378625.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||45|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_salivary_gland(1)|||||||CH471183|NM_001198993.1|NP_001185922.1|HGNC:29831|NAD_%20_kinase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13052||1p36.33|2014-11-19|||BC001709|2.7.1.23|65220|ENSG00000008130|11594753|NM_023018|||CCDS30565_%2C__%20_CCDS55561_%2C__%20_CCDS55562|OTTHUMG00000000942|65220|611616|NM_001198993|O95544|ENSG00000008130|uc001aid.5|NADK_HUMAN||A6NNN3_%7C_A8K296_%7C_B7Z434_%7C_F5GXR5_%7C_Q5QPS4_%7C_Q9H2P2_%7C_Q9H931|O95544|ATP_%20_metabolic_%20_process_%20_(GO:0046034)_%7C_NAD_%20_metabolic_%20_process_%20_(GO:0019674)_%7C_NADP_%20_biosynthetic_%20_process_%20_(GO:0006741)_%7C_phosphorylation_%20_(GO:0016310)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)|ATP_%20_binding_%20_(GO:0005524)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_NAD+_%20_kinase_%20_activity_%20_(GO:0003951)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1720670 exm2250243 G A . PASS FUNCOTATION=[GNB1|hg19|chr1|1720670|1720670|SILENT||SNP|G|G|A|g.chr1:1720670G>A|ENST00000378609.4|-|10|1070|c.738C>T|c.(736-738)gaC>gaT|p.D246D|0.5411471321695761|AGGTGGCGTCGTCTGAGCCAG||||||||||||||||||||||||||269|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(86)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X04526|NM_002074.3|NP_002065.1|HGNC:4396|G_%20_protein_%20_subunit_%20_beta_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"guanine_%20_nucleotide_%20_binding_%20_protein_%20_(G_%20_protein)_%2C__%20_beta_%20_polypeptide_%20_1"||"transducin_%20_beta_%20_chain_%20_1"_%2C__%20_"guanine_%20_nucleotide-binding_%20_protein_%20_G(I)/G(S)/G(T)_%20_subunit_%20_beta-1"|1p36.33|2017-04-12||2016-03-03|BC004186||2782|ENSG00000078369||NM_002074|1430_%7C_362|G_%20_protein_%20_subunits_%20_beta_%7C_WD_%20_repeat_%20_domain_%20_containing|CCDS34_%2C__%20_CCDS72685|OTTHUMG00000000940|2782|139380|NM_001282538|P62873|ENSG00000078369|uc031tmu.1|GBB1_HUMAN||B1AJZ7_%7C_P04697_%7C_P04901_%7C_Q1RMY8|P62873|adenylate_%20_cyclase-activating_%20_dopamine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007191)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cellular_%20_response_%20_to_%20_catecholamine_%20_stimulus_%20_(GO:0071870)_%7C_cellular_%20_response_%20_to_%20_glucagon_%20_stimulus_%20_(GO:0071377)_%7C_cellular_%20_response_%20_to_%20_prostaglandin_%20_E_%20_stimulus_%20_(GO:0071380)_%7C_energy_%20_reserve_%20_metabolic_%20_process_%20_(GO:0006112)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_GTP_%20_catabolic_%20_process_%20_(GO:0006184)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_Ras_%20_protein_%20_signal_%20_transduction_%20_(GO:0007265)_%7C_regulation_%20_of_%20_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0022400)_%7C_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0016056)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_heterotrimeric_%20_G-protein_%20_complex_%20_(GO:0005834)_%7C_intracellular_%20_(GO:0005622)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_membrane_%20_(GO:0016020)_%7C_photoreceptor_%20_disc_%20_membrane_%20_(GO:0097381)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|GTPase_%20_activity_%20_(GO:0003924)_%7C_GTPase_%20_binding_%20_(GO:0051020)_%7C_protein_%20_complex_%20_binding_%20_(GO:0032403)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1766856 psy_rs114622732 A G . PASS FUNCOTATION=[GNB1|hg19|chr1|1766856|1766856|INTRON||SNP|A|A|G|g.chr1:1766856A>G|ENST00000378609.4|-|||c.e2-3773T>C|||0.456359102244389|ATTAGAATCCATGCAAGCCCC|GNB1_ENST00000472614.2_INTRON|||||||||||||||||||||||||269|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(86)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X04526|NM_002074.3|NP_002065.1|HGNC:4396|G_%20_protein_%20_subunit_%20_beta_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"guanine_%20_nucleotide_%20_binding_%20_protein_%20_(G_%20_protein)_%2C__%20_beta_%20_polypeptide_%20_1"||"transducin_%20_beta_%20_chain_%20_1"_%2C__%20_"guanine_%20_nucleotide-binding_%20_protein_%20_G(I)/G(S)/G(T)_%20_subunit_%20_beta-1"|1p36.33|2017-04-12||2016-03-03|BC004186||2782|ENSG00000078369||NM_002074|1430_%7C_362|G_%20_protein_%20_subunits_%20_beta_%7C_WD_%20_repeat_%20_domain_%20_containing|CCDS34_%2C__%20_CCDS72685|OTTHUMG00000000940|2782|139380|NM_001282538|P62873|ENSG00000078369|uc031tmu.1|GBB1_HUMAN||B1AJZ7_%7C_P04697_%7C_P04901_%7C_Q1RMY8|P62873|adenylate_%20_cyclase-activating_%20_dopamine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007191)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cellular_%20_response_%20_to_%20_catecholamine_%20_stimulus_%20_(GO:0071870)_%7C_cellular_%20_response_%20_to_%20_glucagon_%20_stimulus_%20_(GO:0071377)_%7C_cellular_%20_response_%20_to_%20_prostaglandin_%20_E_%20_stimulus_%20_(GO:0071380)_%7C_energy_%20_reserve_%20_metabolic_%20_process_%20_(GO:0006112)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_GTP_%20_catabolic_%20_process_%20_(GO:0006184)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_Ras_%20_protein_%20_signal_%20_transduction_%20_(GO:0007265)_%7C_regulation_%20_of_%20_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0022400)_%7C_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0016056)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_heterotrimeric_%20_G-protein_%20_complex_%20_(GO:0005834)_%7C_intracellular_%20_(GO:0005622)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_membrane_%20_(GO:0016020)_%7C_photoreceptor_%20_disc_%20_membrane_%20_(GO:0097381)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|GTPase_%20_activity_%20_(GO:0003924)_%7C_GTPase_%20_binding_%20_(GO:0051020)_%7C_protein_%20_complex_%20_binding_%20_(GO:0032403)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1776269 rs4648727 C A . PASS FUNCOTATION=[GNB1|hg19|chr1|1776269|1776269|INTRON||SNP|C|C|A|g.chr1:1776269C>A|ENST00000378609.4|-|||c.e2+5592G>T|||0.3940149625935162|GTGTGGTGCACATGTAACATA|GNB1_ENST00000472614.2_INTRON|||||||||||||||||||||||||269|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(86)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X04526|NM_002074.3|NP_002065.1|HGNC:4396|G_%20_protein_%20_subunit_%20_beta_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"guanine_%20_nucleotide_%20_binding_%20_protein_%20_(G_%20_protein)_%2C__%20_beta_%20_polypeptide_%20_1"||"transducin_%20_beta_%20_chain_%20_1"_%2C__%20_"guanine_%20_nucleotide-binding_%20_protein_%20_G(I)/G(S)/G(T)_%20_subunit_%20_beta-1"|1p36.33|2017-04-12||2016-03-03|BC004186||2782|ENSG00000078369||NM_002074|1430_%7C_362|G_%20_protein_%20_subunits_%20_beta_%7C_WD_%20_repeat_%20_domain_%20_containing|CCDS34_%2C__%20_CCDS72685|OTTHUMG00000000940|2782|139380|NM_001282538|P62873|ENSG00000078369|uc031tmu.1|GBB1_HUMAN||B1AJZ7_%7C_P04697_%7C_P04901_%7C_Q1RMY8|P62873|adenylate_%20_cyclase-activating_%20_dopamine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007191)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cellular_%20_response_%20_to_%20_catecholamine_%20_stimulus_%20_(GO:0071870)_%7C_cellular_%20_response_%20_to_%20_glucagon_%20_stimulus_%20_(GO:0071377)_%7C_cellular_%20_response_%20_to_%20_prostaglandin_%20_E_%20_stimulus_%20_(GO:0071380)_%7C_energy_%20_reserve_%20_metabolic_%20_process_%20_(GO:0006112)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_GTP_%20_catabolic_%20_process_%20_(GO:0006184)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_Ras_%20_protein_%20_signal_%20_transduction_%20_(GO:0007265)_%7C_regulation_%20_of_%20_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0022400)_%7C_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0016056)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_heterotrimeric_%20_G-protein_%20_complex_%20_(GO:0005834)_%7C_intracellular_%20_(GO:0005622)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_membrane_%20_(GO:0016020)_%7C_photoreceptor_%20_disc_%20_membrane_%20_(GO:0097381)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|GTPase_%20_activity_%20_(GO:0003924)_%7C_GTPase_%20_binding_%20_(GO:0051020)_%7C_protein_%20_complex_%20_binding_%20_(GO:0032403)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1804302 rs3855951 C T . PASS FUNCOTATION=[GNB1|hg19|chr1|1804302|1804302|INTRON||SNP|C|C|T|g.chr1:1804302C>T|ENST00000378609.4|-|||c.e1-17957G>A|||0.456359102244389|AAAGTAAGTACTTGGTAAATA|GNB1_ENST00000472614.2_INTRON|||||||||||||||||||||||||269|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(86)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X04526|NM_002074.3|NP_002065.1|HGNC:4396|G_%20_protein_%20_subunit_%20_beta_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"guanine_%20_nucleotide_%20_binding_%20_protein_%20_(G_%20_protein)_%2C__%20_beta_%20_polypeptide_%20_1"||"transducin_%20_beta_%20_chain_%20_1"_%2C__%20_"guanine_%20_nucleotide-binding_%20_protein_%20_G(I)/G(S)/G(T)_%20_subunit_%20_beta-1"|1p36.33|2017-04-12||2016-03-03|BC004186||2782|ENSG00000078369||NM_002074|1430_%7C_362|G_%20_protein_%20_subunits_%20_beta_%7C_WD_%20_repeat_%20_domain_%20_containing|CCDS34_%2C__%20_CCDS72685|OTTHUMG00000000940|2782|139380|NM_001282538|P62873|ENSG00000078369|uc031tmu.1|GBB1_HUMAN||B1AJZ7_%7C_P04697_%7C_P04901_%7C_Q1RMY8|P62873|adenylate_%20_cyclase-activating_%20_dopamine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007191)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cellular_%20_response_%20_to_%20_catecholamine_%20_stimulus_%20_(GO:0071870)_%7C_cellular_%20_response_%20_to_%20_glucagon_%20_stimulus_%20_(GO:0071377)_%7C_cellular_%20_response_%20_to_%20_prostaglandin_%20_E_%20_stimulus_%20_(GO:0071380)_%7C_energy_%20_reserve_%20_metabolic_%20_process_%20_(GO:0006112)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_GTP_%20_catabolic_%20_process_%20_(GO:0006184)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_Ras_%20_protein_%20_signal_%20_transduction_%20_(GO:0007265)_%7C_regulation_%20_of_%20_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0022400)_%7C_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0016056)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_heterotrimeric_%20_G-protein_%20_complex_%20_(GO:0005834)_%7C_intracellular_%20_(GO:0005622)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_membrane_%20_(GO:0016020)_%7C_photoreceptor_%20_disc_%20_membrane_%20_(GO:0097381)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|GTPase_%20_activity_%20_(GO:0003924)_%7C_GTPase_%20_binding_%20_(GO:0051020)_%7C_protein_%20_complex_%20_binding_%20_(GO:0032403)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1810090 rs7525092 C T . PASS FUNCOTATION=[GNB1|hg19|chr1|1810090|1810090|INTRON||SNP|C|C|T|g.chr1:1810090C>T|ENST00000378609.4|-|||c.e1-12169G>A|||0.5037406483790524|CTCACCAAGGCAAGTTGGCAT|GNB1_ENST00000472614.2_INTRON|||||||||||||||||||||||||269|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(86)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X04526|NM_002074.3|NP_002065.1|HGNC:4396|G_%20_protein_%20_subunit_%20_beta_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"guanine_%20_nucleotide_%20_binding_%20_protein_%20_(G_%20_protein)_%2C__%20_beta_%20_polypeptide_%20_1"||"transducin_%20_beta_%20_chain_%20_1"_%2C__%20_"guanine_%20_nucleotide-binding_%20_protein_%20_G(I)/G(S)/G(T)_%20_subunit_%20_beta-1"|1p36.33|2017-04-12||2016-03-03|BC004186||2782|ENSG00000078369||NM_002074|1430_%7C_362|G_%20_protein_%20_subunits_%20_beta_%7C_WD_%20_repeat_%20_domain_%20_containing|CCDS34_%2C__%20_CCDS72685|OTTHUMG00000000940|2782|139380|NM_001282538|P62873|ENSG00000078369|uc031tmu.1|GBB1_HUMAN||B1AJZ7_%7C_P04697_%7C_P04901_%7C_Q1RMY8|P62873|adenylate_%20_cyclase-activating_%20_dopamine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007191)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cellular_%20_response_%20_to_%20_catecholamine_%20_stimulus_%20_(GO:0071870)_%7C_cellular_%20_response_%20_to_%20_glucagon_%20_stimulus_%20_(GO:0071377)_%7C_cellular_%20_response_%20_to_%20_prostaglandin_%20_E_%20_stimulus_%20_(GO:0071380)_%7C_energy_%20_reserve_%20_metabolic_%20_process_%20_(GO:0006112)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_GTP_%20_catabolic_%20_process_%20_(GO:0006184)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_Ras_%20_protein_%20_signal_%20_transduction_%20_(GO:0007265)_%7C_regulation_%20_of_%20_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0022400)_%7C_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0016056)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_heterotrimeric_%20_G-protein_%20_complex_%20_(GO:0005834)_%7C_intracellular_%20_(GO:0005622)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_membrane_%20_(GO:0016020)_%7C_photoreceptor_%20_disc_%20_membrane_%20_(GO:0097381)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|GTPase_%20_activity_%20_(GO:0003924)_%7C_GTPase_%20_binding_%20_(GO:0051020)_%7C_protein_%20_complex_%20_binding_%20_(GO:0032403)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1812521 rs6603802 C T . PASS FUNCOTATION=[GNB1|hg19|chr1|1812521|1812521|INTRON||SNP|C|C|T|g.chr1:1812521C>T|ENST00000378609.4|-|||c.e1-9738G>A|||0.5037406483790524|TAAGGCCTGCCGTACCCTCGA|GNB1_ENST00000472614.2_INTRON|||||||||||||||||||||||||269|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(86)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X04526|NM_002074.3|NP_002065.1|HGNC:4396|G_%20_protein_%20_subunit_%20_beta_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"guanine_%20_nucleotide_%20_binding_%20_protein_%20_(G_%20_protein)_%2C__%20_beta_%20_polypeptide_%20_1"||"transducin_%20_beta_%20_chain_%20_1"_%2C__%20_"guanine_%20_nucleotide-binding_%20_protein_%20_G(I)/G(S)/G(T)_%20_subunit_%20_beta-1"|1p36.33|2017-04-12||2016-03-03|BC004186||2782|ENSG00000078369||NM_002074|1430_%7C_362|G_%20_protein_%20_subunits_%20_beta_%7C_WD_%20_repeat_%20_domain_%20_containing|CCDS34_%2C__%20_CCDS72685|OTTHUMG00000000940|2782|139380|NM_001282538|P62873|ENSG00000078369|uc031tmu.1|GBB1_HUMAN||B1AJZ7_%7C_P04697_%7C_P04901_%7C_Q1RMY8|P62873|adenylate_%20_cyclase-activating_%20_dopamine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007191)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cellular_%20_response_%20_to_%20_catecholamine_%20_stimulus_%20_(GO:0071870)_%7C_cellular_%20_response_%20_to_%20_glucagon_%20_stimulus_%20_(GO:0071377)_%7C_cellular_%20_response_%20_to_%20_prostaglandin_%20_E_%20_stimulus_%20_(GO:0071380)_%7C_energy_%20_reserve_%20_metabolic_%20_process_%20_(GO:0006112)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_GTP_%20_catabolic_%20_process_%20_(GO:0006184)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_Ras_%20_protein_%20_signal_%20_transduction_%20_(GO:0007265)_%7C_regulation_%20_of_%20_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0022400)_%7C_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0016056)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_heterotrimeric_%20_G-protein_%20_complex_%20_(GO:0005834)_%7C_intracellular_%20_(GO:0005622)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_membrane_%20_(GO:0016020)_%7C_photoreceptor_%20_disc_%20_membrane_%20_(GO:0097381)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|GTPase_%20_activity_%20_(GO:0003924)_%7C_GTPase_%20_binding_%20_(GO:0051020)_%7C_protein_%20_complex_%20_binding_%20_(GO:0032403)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1818129 rs16824526 A C . PASS FUNCOTATION=[GNB1|hg19|chr1|1818129|1818129|INTRON||SNP|A|A|C|g.chr1:1818129A>C|ENST00000378609.4|-|||c.e1-4130T>G|||0.4239401496259352|ATCAGAATGTAAACCAGTTTA|GNB1_ENST00000472614.2_INTRON/RP1-140A9.1_ENST00000412228.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||269|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(86)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X04526|NM_002074.3|NP_002065.1|HGNC:4396|G_%20_protein_%20_subunit_%20_beta_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"guanine_%20_nucleotide_%20_binding_%20_protein_%20_(G_%20_protein)_%2C__%20_beta_%20_polypeptide_%20_1"||"transducin_%20_beta_%20_chain_%20_1"_%2C__%20_"guanine_%20_nucleotide-binding_%20_protein_%20_G(I)/G(S)/G(T)_%20_subunit_%20_beta-1"|1p36.33|2017-04-12||2016-03-03|BC004186||2782|ENSG00000078369||NM_002074|1430_%7C_362|G_%20_protein_%20_subunits_%20_beta_%7C_WD_%20_repeat_%20_domain_%20_containing|CCDS34_%2C__%20_CCDS72685|OTTHUMG00000000940|2782|139380|NM_001282538|P62873|ENSG00000078369|uc031tmu.1|GBB1_HUMAN||B1AJZ7_%7C_P04697_%7C_P04901_%7C_Q1RMY8|P62873|adenylate_%20_cyclase-activating_%20_dopamine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007191)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cellular_%20_response_%20_to_%20_catecholamine_%20_stimulus_%20_(GO:0071870)_%7C_cellular_%20_response_%20_to_%20_glucagon_%20_stimulus_%20_(GO:0071377)_%7C_cellular_%20_response_%20_to_%20_prostaglandin_%20_E_%20_stimulus_%20_(GO:0071380)_%7C_energy_%20_reserve_%20_metabolic_%20_process_%20_(GO:0006112)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_GTP_%20_catabolic_%20_process_%20_(GO:0006184)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_Ras_%20_protein_%20_signal_%20_transduction_%20_(GO:0007265)_%7C_regulation_%20_of_%20_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0022400)_%7C_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0016056)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_heterotrimeric_%20_G-protein_%20_complex_%20_(GO:0005834)_%7C_intracellular_%20_(GO:0005622)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_membrane_%20_(GO:0016020)_%7C_photoreceptor_%20_disc_%20_membrane_%20_(GO:0097381)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|GTPase_%20_activity_%20_(GO:0003924)_%7C_GTPase_%20_binding_%20_(GO:0051020)_%7C_protein_%20_complex_%20_binding_%20_(GO:0032403)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1846765 rs2247560 G A . PASS FUNCOTATION=[CALML6|hg19|chr1|1846765|1846765|INTRON||SNP|G|G|A|g.chr1:1846765G>A|ENST00000307786.3|+|||c.e1+19G>A|||0.5985037406483791|TGACAGCATGGGACCAGGGTC|CALML6_ENST00000462293.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||178|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY566229|NM_138705.2|NP_619650.2|HGNC:24193|calmodulin_%20_like_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"calmodulin-like_%20_6"|CAGLP||1p36.33|2015-11-23||2015-11-23|AF490905||163688|ENSG00000169885||NM_138705|863|EF-hand_%20_domain_%20_containing|CCDS30566_%2C__%20_CCDS81255|OTTHUMG00000000943|163688|610171|NM_138705|Q8TD86|ENSG00000169885|uc001aih.1|CALL6_HUMAN||A2A2M3_%7C_Q6Q2C4|Q8TD86||cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1847531 rs28710181 C T . PASS FUNCOTATION=[CALML6|hg19|chr1|1847531|1847531|INTRON||SNP|C|C|T|g.chr1:1847531C>T|ENST00000307786.3|+|||c.e3-349C>T|||0.6733167082294265|CTCCTCCCCACCCTGCTCTCG|CALML6_ENST00000462293.1_INTRON|||||||||||||||||||||||||178|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY566229|NM_138705.2|NP_619650.2|HGNC:24193|calmodulin_%20_like_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"calmodulin-like_%20_6"|CAGLP||1p36.33|2015-11-23||2015-11-23|AF490905||163688|ENSG00000169885||NM_138705|863|EF-hand_%20_domain_%20_containing|CCDS30566_%2C__%20_CCDS81255|OTTHUMG00000000943|163688|610171|NM_138705|Q8TD86|ENSG00000169885|uc001aih.1|CALL6_HUMAN||A2A2M3_%7C_Q6Q2C4|Q8TD86||cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1852484 rs28508199 A G . PASS FUNCOTATION=[TMEM52|hg19|chr1|1852484|1852484|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:1852484A>G|ENST00000310991.3|-||||||0.6408977556109726|CCCATTGGACAGAAATCCTGC|TMEM52_ENST00000378602.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AY358544|NM_178545.3|NP_848640.1|HGNC:27916|transmembrane_%20_protein_%20_52|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.33|2014-11-19|||AJ278736||339456|ENSG00000178821||NM_178545|||CCDS35|OTTHUMG00000000944|339456||NM_178545|Q8NDY8|ENSG00000178821|uc001aij.3|TMM52_HUMAN||Q4VXS6_%7C_Q6UX25|Q8NDY8||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1854321 rs2250833 A G . PASS FUNCOTATION=[TMEM52|hg19|chr1|1854321|1854321|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:1854321A>G|ENST00000310991.3|-||||||0.655860349127182|CCCGGCTGTCAGGACAAGCCC|TMEM52_ENST00000378602.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AY358544|NM_178545.3|NP_848640.1|HGNC:27916|transmembrane_%20_protein_%20_52|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.33|2014-11-19|||AJ278736||339456|ENSG00000178821||NM_178545|||CCDS35|OTTHUMG00000000944|339456||NM_178545|Q8NDY8|ENSG00000178821|uc001aij.3|TMM52_HUMAN||Q4VXS6_%7C_Q6UX25|Q8NDY8||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1855655 psy_rs183037218 G T . PASS FUNCOTATION=[TMEM52|hg19|chr1|1855655|1855655|FIVE_PRIME_FLANK||SNP|G|G|T|g.chr1:1855655G>T|ENST00000310991.3|-||||||0.7306733167082294|GTGCCCGCCAGCTCACCGACC||||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AY358544|NM_178545.3|NP_848640.1|HGNC:27916|transmembrane_%20_protein_%20_52|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.33|2014-11-19|||AJ278736||339456|ENSG00000178821||NM_178545|||CCDS35|OTTHUMG00000000944|339456||NM_178545|Q8NDY8|ENSG00000178821|uc001aij.3|TMM52_HUMAN||Q4VXS6_%7C_Q6UX25|Q8NDY8||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1865298 rs2803316 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|1865298|1865298|IGR||SNP|A|A|G|g.chr1:1865298A>G|no_transcript|||||||0.39900249376558605|TAATTCTTGAAAAGGAAGCTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1886519 psy_rs2748975 C A . PASS FUNCOTATION=[Unknown|hg19|chr1|1886519|1886519|IGR||SNP|C|C|A|g.chr1:1886519C>A|no_transcript|||||||0.6259351620947631|ACCGGAAGTGCGGCTCACACA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1887019 exm4806 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|1887019|1887019|IGR||SNP|A|A|G|g.chr1:1887019A>G|no_transcript|||||||0.6084788029925187|TCGAAGGCCTAGGAAAATTCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1887049 exm4808 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1887049|1887049|IGR||SNP|T|T|C|g.chr1:1887049T>C|no_transcript|||||||0.600997506234414|AGCCCTCCCCTGGGCCCCTCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1887055 exm4809 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1887055|1887055|IGR||SNP|C|C|T|g.chr1:1887055C>T|no_transcript|||||||0.5910224438902744|CCCCTGGGCCCCTCAGCCCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1887195 exm4847 G T . PASS FUNCOTATION=[Unknown|hg19|chr1|1887195|1887195|IGR||SNP|G|G|T|g.chr1:1887195G>T|no_transcript|||||||0.6109725685785536|CTGCATGTCCGCCTGGGAGGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1888057 exm4861 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|1888057|1888057|IGR||SNP|A|A|G|g.chr1:1888057A>G|no_transcript|||||||0.5860349127182045|TGGCACACTCACTAATTTCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1888115 exm4863 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|1888115|1888115|IGR||SNP|A|A|G|g.chr1:1888115A>G|no_transcript|||||||0.6109725685785536|GCTGGCAGGAACTTGAAAGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1888168 exm4869 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1888168|1888168|IGR||SNP|G|G|A|g.chr1:1888168G>A|no_transcript|||||||0.600997506234414|GGTCCGAGACGTGGTCTCTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1888193 exm4871 C A . PASS FUNCOTATION=[Unknown|hg19|chr1|1888193|1888193|IGR||SNP|C|C|A|g.chr1:1888193C>A|no_transcript|||||||0.5960099750623441|ACGTAGCTGCCGAAGTCAATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1888193 rs3820011 C A . PASS FUNCOTATION=[Unknown|hg19|chr1|1888193|1888193|IGR||SNP|C|C|A|g.chr1:1888193C>A|no_transcript|||||||0.5960099750623441|ACGTAGCTGCCGAAGTCAATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1890559 exm4882 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1890559|1890559|IGR||SNP|C|C|T|g.chr1:1890559C>T|no_transcript|||||||0.5311720698254364|TTGAACTCACCGAACATTTCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1890609 variant.277 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1890609|1890609|IGR||SNP|G|G|A|g.chr1:1890609G>A|no_transcript|||||||0.5361596009975063|TCGCCCGTCTGAGCCAAAAAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1891441 exm4889 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1891441|1891441|IGR||SNP|C|C|T|g.chr1:1891441C>T|no_transcript|||||||0.6259351620947631|CAGGACATTCCGGCTGACAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1892325 psy_rs2803291 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1892325|1892325|IGR||SNP|T|T|C|g.chr1:1892325T>C|no_transcript|||||||0.5037406483790524|ACCCTTCAGATGACAGAAGCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1895269 exm4907 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1895269|1895269|IGR||SNP|G|G|A|g.chr1:1895269G>A|no_transcript|||||||0.5536159600997507|GTTTACCAACGTGATCTTTTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1896346 exm4914 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1896346|1896346|IGR||SNP|G|G|A|g.chr1:1896346G>A|no_transcript|||||||0.6309226932668329|GAGGAGCTCCGGTTTGCTGTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1896379 exm4915 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1896379|1896379|IGR||SNP|C|C|T|g.chr1:1896379C>T|no_transcript|||||||0.6483790523690773|TTGGAACTCACGCCCCCACAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1896433 exm4922 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1896433|1896433|IGR||SNP|C|C|T|g.chr1:1896433C>T|no_transcript|||||||0.6733167082294265|CTCCACCGTGCGCTCCAGGAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1896466 exm4926 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1896466|1896466|IGR||SNP|C|C|T|g.chr1:1896466C>T|no_transcript|||||||0.683291770573566|CTTTGTCCCGCCCACGGGCTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1896494 exm4928 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1896494|1896494|IGR||SNP|T|T|C|g.chr1:1896494T>C|no_transcript|||||||0.6783042394014963|ACGTCCTCCTTGGGCACCTGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1897822 exm4931 G T . PASS FUNCOTATION=[Unknown|hg19|chr1|1897822|1897822|IGR||SNP|G|G|T|g.chr1:1897822G>T|no_transcript|||||||0.628428927680798|GGTATGGCTTGTAGTCTTCAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1897832 exm4932 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1897832|1897832|IGR||SNP|T|T|C|g.chr1:1897832T>C|no_transcript|||||||0.6309226932668329|GTAGTCTTCATTCCAAAGCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1897889 exm4936 G C . PASS FUNCOTATION=[Unknown|hg19|chr1|1897889|1897889|IGR||SNP|G|G|C|g.chr1:1897889G>C|no_transcript|||||||0.6309226932668329|GCTGGCCCCGGGGTCCCCCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1900102 exm4945 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1900102|1900102|IGR||SNP|G|G|A|g.chr1:1900102G>A|no_transcript|||||||0.5760598503740648|TGGGACTGTGGTCTTCTTGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1900156 exm4948 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1900156|1900156|IGR||SNP|C|C|T|g.chr1:1900156C>T|no_transcript|||||||0.5835411471321695|CAGGGTCAGCCGGTGCCTGGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1900186 exm4951 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1900186|1900186|IGR||SNP|T|T|C|g.chr1:1900186T>C|no_transcript|||||||0.5935162094763092|GGGATGCTGTTTCTTCCTCTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1900211 exm4955 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1900211|1900211|IGR||SNP|C|C|T|g.chr1:1900211C>T|no_transcript|||||||0.600997506234414|TCCTCAGCCTCCTCTTTCAGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1900232 exm4957 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1900232|1900232|IGR||SNP|T|T|C|g.chr1:1900232T>C|no_transcript|||||||0.600997506234414|ATCCGACTGATGATCTCCTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1900232 rs16824588 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1900232|1900232|IGR||SNP|T|T|C|g.chr1:1900232T>C|no_transcript|||||||0.600997506234414|ATCCGACTGATGATCTCCTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1902129 exm4965 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1902129|1902129|IGR||SNP|G|G|A|g.chr1:1902129G>A|no_transcript|||||||0.6458852867830424|TGGCGCCGGCGCTGGTGGACA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1902133 exm4966 G C . PASS FUNCOTATION=[Unknown|hg19|chr1|1902133|1902133|IGR||SNP|G|G|C|g.chr1:1902133G>C|no_transcript|||||||0.6458852867830424|GCCGGCGCTGGTGGACAAGGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1902206 exm4973 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1902206|1902206|IGR||SNP|G|G|A|g.chr1:1902206G>A|no_transcript|||||||0.6109725685785536|CCTCTGCTCCGCCAGCTCTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1902225 exm4974 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1902225|1902225|IGR||SNP|G|G|A|g.chr1:1902225G>A|no_transcript|||||||0.6159600997506235|GCCTTGGCACGGTCCCATGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1902246 exm4977 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1902246|1902246|IGR||SNP|G|G|A|g.chr1:1902246G>A|no_transcript|||||||0.6109725685785536|TGGAACTTCCGCAGTGTGTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1903426 exm4981 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1903426|1903426|IGR||SNP|G|G|A|g.chr1:1903426G>A|no_transcript|||||||0.6483790523690773|TACCCGGTTCGCGGAGATGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1903469 exm4984 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1903469|1903469|IGR||SNP|G|G|A|g.chr1:1903469G>A|no_transcript|||||||0.6408977556109726|TCCATGCGTCGCCTCATGTAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1904401 exm4988 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1904401|1904401|IGR||SNP|G|G|A|g.chr1:1904401G>A|no_transcript|||||||0.5935162094763092|TTCAGGAACCGCACGGCAACC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1904413 exm4989 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1904413|1904413|IGR||SNP|T|T|C|g.chr1:1904413T>C|no_transcript|||||||0.5935162094763092|ACGGCAACCTTGTGGTTCTTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1904424 exm4990 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1904424|1904424|IGR||SNP|C|C|T|g.chr1:1904424C>T|no_transcript|||||||0.5910224438902744|GTGGTTCTTCCGGGCGTCCTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1905467 exm4998 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|1905467|1905467|IGR||SNP|A|A|G|g.chr1:1905467A>G|no_transcript|||||||0.6583541147132169|CGCCTACCTGATCCTCAGCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1905526 exm5005 C A . PASS FUNCOTATION=[Unknown|hg19|chr1|1905526|1905526|IGR||SNP|C|C|A|g.chr1:1905526C>A|no_transcript|||||||0.6508728179551122|TGCAGAGCTGCTCGGCTGCGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1905557 exm5009 G C . PASS FUNCOTATION=[Unknown|hg19|chr1|1905557|1905557|IGR||SNP|G|G|C|g.chr1:1905557G>C|no_transcript|||||||0.6384039900249376|CCGCCGCCCCGTGGCCTCCAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1916587 rs3795283 G T . PASS FUNCOTATION=[Unknown|hg19|chr1|1916587|1916587|IGR||SNP|G|G|T|g.chr1:1916587G>T|no_transcript|||||||0.5336658354114713|CGAGGAAAGAGGAAAAAGAAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1916904 exm5043 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1916904|1916904|IGR||SNP|C|C|T|g.chr1:1916904C>T|no_transcript|||||||0.6583541147132169|CGTCTGGACACGGCCTGGAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1918445 exm5049 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1918445|1918445|IGR||SNP|C|C|T|g.chr1:1918445C>T|no_transcript|||||||0.6309226932668329|GATCAGGTCCCGCCTCTGCCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1918475 exm5052 C G . PASS FUNCOTATION=[Unknown|hg19|chr1|1918475|1918475|IGR||SNP|C|C|G|g.chr1:1918475C>G|no_transcript|||||||0.6234413965087282|CAGCTCCCCTCTGGAACAGGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1930754 rs6605081 C T . PASS FUNCOTATION=[C1orf222|hg19|chr1|1930754|1930754|INTRON||SNP|C|C|T|g.chr1:1930754C>T|ENST00000434971.2|-|||c.e1-4386G>A|||0.4688279301745636|ACGGAATGGACATCTTTGTCG||||||||||||||||||||||||||22|central_nervous_system(22)|||||||AL391845||||||||||||||||||||||||||||||||CA222_HUMAN|||Q69YW0|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1941929 rs6656398 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1941929|1941929|IGR||SNP|G|G|A|g.chr1:1941929G>A|no_transcript|||||||0.516209476309227|AGTTTCAGACGGTCAAACAGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1946591 rs13303016 G A . PASS FUNCOTATION=[GABRD|hg19|chr1|1946591|1946591|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:1946591G>A|ENST00000378585.4|+||||||0.5361596009975063|AGCGAGCGCCGTTTCCTCTCC|RP11-547D24.1_ENST00000443930.1_RNA|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC033801|NM_000815.4|NP_000806.2|HGNC:4084|gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"gamma-aminobutyric_%20_acid_%20_(GABA)_%20_A_%20_receptor_%2C__%20_delta"||"GABA(A)_%20_receptor_%2C__%20_delta"|1p36.33|2016-10-05||2016-02-04|BC033801||2563|ENSG00000187730|2176788_%2C__%20_10965146|NM_000815|563|Gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_subunits|CCDS36|OTTHUMG00000041064|2563|137163|NM_000815|O14764|ENSG00000187730|uc001aip.3|GBRD_HUMAN|Acamprosate(DB00659)_%7C_Adinazolam(DB00546)_%7C_Alprazolam(DB00404)_%7C_Amoxapine(DB00543)_%7C_Bromazepam(DB01558)_%7C_Butabarbital(DB00237)_%7C_Butalbital(DB00241)_%7C_Chlordiazepoxide(DB00475)_%7C_Cinolazepam(DB01594)_%7C_Clobazam(DB00349)_%7C_Clonazepam(DB01068)_%7C_Clorazepate(DB00628)_%7C_Clotiazepam(DB01559)_%7C_Desflurane(DB01189)_%7C_Diazepam(DB00829)_%7C_Enflurane(DB00228)_%7C_Ergoloid_%20_mesylate(DB01049)_%7C_Estazolam(DB01215)_%7C_Eszopiclone(DB00402)_%7C_Ethchlorvynol(DB00189)_%7C_Etomidate(DB00292)_%7C_Fludiazepam(DB01567)_%7C_Flumazenil(DB01205)_%7C_Flurazepam(DB00690)_%7C_Glutethimide(DB01437)_%7C_Halazepam(DB00801)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Ketazolam(DB01587)_%7C_Lorazepam(DB00186)_%7C_Meprobamate(DB00371)_%7C_Methoxyflurane(DB01028)_%7C_Methyprylon(DB01107)_%7C_Midazolam(DB00683)_%7C_Nitrazepam(DB01595)_%7C_Olanzapine(DB00334)_%7C_Oxazepam(DB00842)_%7C_Pentobarbital(DB00312)_%7C_Prazepam(DB01588)_%7C_Primidone(DB00794)_%7C_Propofol(DB00818)_%7C_Quazepam(DB01589)_%7C_Sevoflurane(DB01236)_%7C_Talbutal(DB00306)_%7C_Temazepam(DB00231)_%7C_Topiramate(DB00273)_%7C_Triazolam(DB00897)|Q8N4N9|O14764|signal_%20_transduction_%20_(GO:0007165)_%7C_synaptic_%20_transmission_%20_(GO:0007268)_%7C_transport_%20_(GO:0006810)|cell_%20_junction_%20_(GO:0030054)_%7C_chloride_%20_channel_%20_complex_%20_(GO:0034707)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|chloride_%20_channel_%20_activity_%20_(GO:0005254)_%7C_extracellular_%20_ligand-gated_%20_ion_%20_channel_%20_activity_%20_(GO:0005230)_%7C_GABA-A_%20_receptor_%20_activity_%20_(GO:0004890)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1956414 exm2250439 C T . PASS FUNCOTATION=[GABRD|hg19|chr1|1956414|1956414|SILENT||SNP|C|C|T|g.chr1:1956414C>T|ENST00000378585.4|+|2|185|c.102C>T|c.(100-102)tcC>tcT|p.S34S|0.6658354114713217|ACGTGGGCTCCAACCTGGAGA||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC033801|NM_000815.4|NP_000806.2|HGNC:4084|gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"gamma-aminobutyric_%20_acid_%20_(GABA)_%20_A_%20_receptor_%2C__%20_delta"||"GABA(A)_%20_receptor_%2C__%20_delta"|1p36.33|2016-10-05||2016-02-04|BC033801||2563|ENSG00000187730|2176788_%2C__%20_10965146|NM_000815|563|Gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_subunits|CCDS36|OTTHUMG00000041064|2563|137163|NM_000815|O14764|ENSG00000187730|uc001aip.3|GBRD_HUMAN|Acamprosate(DB00659)_%7C_Adinazolam(DB00546)_%7C_Alprazolam(DB00404)_%7C_Amoxapine(DB00543)_%7C_Bromazepam(DB01558)_%7C_Butabarbital(DB00237)_%7C_Butalbital(DB00241)_%7C_Chlordiazepoxide(DB00475)_%7C_Cinolazepam(DB01594)_%7C_Clobazam(DB00349)_%7C_Clonazepam(DB01068)_%7C_Clorazepate(DB00628)_%7C_Clotiazepam(DB01559)_%7C_Desflurane(DB01189)_%7C_Diazepam(DB00829)_%7C_Enflurane(DB00228)_%7C_Ergoloid_%20_mesylate(DB01049)_%7C_Estazolam(DB01215)_%7C_Eszopiclone(DB00402)_%7C_Ethchlorvynol(DB00189)_%7C_Etomidate(DB00292)_%7C_Fludiazepam(DB01567)_%7C_Flumazenil(DB01205)_%7C_Flurazepam(DB00690)_%7C_Glutethimide(DB01437)_%7C_Halazepam(DB00801)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Ketazolam(DB01587)_%7C_Lorazepam(DB00186)_%7C_Meprobamate(DB00371)_%7C_Methoxyflurane(DB01028)_%7C_Methyprylon(DB01107)_%7C_Midazolam(DB00683)_%7C_Nitrazepam(DB01595)_%7C_Olanzapine(DB00334)_%7C_Oxazepam(DB00842)_%7C_Pentobarbital(DB00312)_%7C_Prazepam(DB01588)_%7C_Primidone(DB00794)_%7C_Propofol(DB00818)_%7C_Quazepam(DB01589)_%7C_Sevoflurane(DB01236)_%7C_Talbutal(DB00306)_%7C_Temazepam(DB00231)_%7C_Topiramate(DB00273)_%7C_Triazolam(DB00897)|Q8N4N9|O14764|signal_%20_transduction_%20_(GO:0007165)_%7C_synaptic_%20_transmission_%20_(GO:0007268)_%7C_transport_%20_(GO:0006810)|cell_%20_junction_%20_(GO:0030054)_%7C_chloride_%20_channel_%20_complex_%20_(GO:0034707)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|chloride_%20_channel_%20_activity_%20_(GO:0005254)_%7C_extracellular_%20_ligand-gated_%20_ion_%20_channel_%20_activity_%20_(GO:0005230)_%7C_GABA-A_%20_receptor_%20_activity_%20_(GO:0004890)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1959595 exm1744492 C T . PASS FUNCOTATION=[GABRD|hg19|chr1|1959595|1959595|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1959595C>T|ENST00000378585.4|+|6|638|c.555C>T|c.(553-555)taC>taT|p.Y185Y|0.6733167082294265|TTCCTCCAGACGGTTACTCAT||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC033801|NM_000815.4|NP_000806.2|HGNC:4084|gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"gamma-aminobutyric_%20_acid_%20_(GABA)_%20_A_%20_receptor_%2C__%20_delta"||"GABA(A)_%20_receptor_%2C__%20_delta"|1p36.33|2016-10-05||2016-02-04|BC033801||2563|ENSG00000187730|2176788_%2C__%20_10965146|NM_000815|563|Gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_subunits|CCDS36|OTTHUMG00000041064|2563|137163|NM_000815|O14764|ENSG00000187730|uc001aip.3|GBRD_HUMAN|Acamprosate(DB00659)_%7C_Adinazolam(DB00546)_%7C_Alprazolam(DB00404)_%7C_Amoxapine(DB00543)_%7C_Bromazepam(DB01558)_%7C_Butabarbital(DB00237)_%7C_Butalbital(DB00241)_%7C_Chlordiazepoxide(DB00475)_%7C_Cinolazepam(DB01594)_%7C_Clobazam(DB00349)_%7C_Clonazepam(DB01068)_%7C_Clorazepate(DB00628)_%7C_Clotiazepam(DB01559)_%7C_Desflurane(DB01189)_%7C_Diazepam(DB00829)_%7C_Enflurane(DB00228)_%7C_Ergoloid_%20_mesylate(DB01049)_%7C_Estazolam(DB01215)_%7C_Eszopiclone(DB00402)_%7C_Ethchlorvynol(DB00189)_%7C_Etomidate(DB00292)_%7C_Fludiazepam(DB01567)_%7C_Flumazenil(DB01205)_%7C_Flurazepam(DB00690)_%7C_Glutethimide(DB01437)_%7C_Halazepam(DB00801)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Ketazolam(DB01587)_%7C_Lorazepam(DB00186)_%7C_Meprobamate(DB00371)_%7C_Methoxyflurane(DB01028)_%7C_Methyprylon(DB01107)_%7C_Midazolam(DB00683)_%7C_Nitrazepam(DB01595)_%7C_Olanzapine(DB00334)_%7C_Oxazepam(DB00842)_%7C_Pentobarbital(DB00312)_%7C_Prazepam(DB01588)_%7C_Primidone(DB00794)_%7C_Propofol(DB00818)_%7C_Quazepam(DB01589)_%7C_Sevoflurane(DB01236)_%7C_Talbutal(DB00306)_%7C_Temazepam(DB00231)_%7C_Topiramate(DB00273)_%7C_Triazolam(DB00897)|Q8N4N9|O14764|signal_%20_transduction_%20_(GO:0007165)_%7C_synaptic_%20_transmission_%20_(GO:0007268)_%7C_transport_%20_(GO:0006810)|cell_%20_junction_%20_(GO:0030054)_%7C_chloride_%20_channel_%20_complex_%20_(GO:0034707)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|chloride_%20_channel_%20_activity_%20_(GO:0005254)_%7C_extracellular_%20_ligand-gated_%20_ion_%20_channel_%20_activity_%20_(GO:0005230)_%7C_GABA-A_%20_receptor_%20_activity_%20_(GO:0004890)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1959595 exm1744492 C T . PASS FUNCOTATION=[GABRD|hg19|chr1|1959595|1959595|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1959595C>T|ENST00000378585.4|+|6|638|c.555C>T|c.(553-555)taC>taT|p.Y185Y|0.6733167082294265|TTCCTCCAGACGGTTACTCAT||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC033801|NM_000815.4|NP_000806.2|HGNC:4084|gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"gamma-aminobutyric_%20_acid_%20_(GABA)_%20_A_%20_receptor_%2C__%20_delta"||"GABA(A)_%20_receptor_%2C__%20_delta"|1p36.33|2016-10-05||2016-02-04|BC033801||2563|ENSG00000187730|2176788_%2C__%20_10965146|NM_000815|563|Gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_subunits|CCDS36|OTTHUMG00000041064|2563|137163|NM_000815|O14764|ENSG00000187730|uc001aip.3|GBRD_HUMAN|Acamprosate(DB00659)_%7C_Adinazolam(DB00546)_%7C_Alprazolam(DB00404)_%7C_Amoxapine(DB00543)_%7C_Bromazepam(DB01558)_%7C_Butabarbital(DB00237)_%7C_Butalbital(DB00241)_%7C_Chlordiazepoxide(DB00475)_%7C_Cinolazepam(DB01594)_%7C_Clobazam(DB00349)_%7C_Clonazepam(DB01068)_%7C_Clorazepate(DB00628)_%7C_Clotiazepam(DB01559)_%7C_Desflurane(DB01189)_%7C_Diazepam(DB00829)_%7C_Enflurane(DB00228)_%7C_Ergoloid_%20_mesylate(DB01049)_%7C_Estazolam(DB01215)_%7C_Eszopiclone(DB00402)_%7C_Ethchlorvynol(DB00189)_%7C_Etomidate(DB00292)_%7C_Fludiazepam(DB01567)_%7C_Flumazenil(DB01205)_%7C_Flurazepam(DB00690)_%7C_Glutethimide(DB01437)_%7C_Halazepam(DB00801)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Ketazolam(DB01587)_%7C_Lorazepam(DB00186)_%7C_Meprobamate(DB00371)_%7C_Methoxyflurane(DB01028)_%7C_Methyprylon(DB01107)_%7C_Midazolam(DB00683)_%7C_Nitrazepam(DB01595)_%7C_Olanzapine(DB00334)_%7C_Oxazepam(DB00842)_%7C_Pentobarbital(DB00312)_%7C_Prazepam(DB01588)_%7C_Primidone(DB00794)_%7C_Propofol(DB00818)_%7C_Quazepam(DB01589)_%7C_Sevoflurane(DB01236)_%7C_Talbutal(DB00306)_%7C_Temazepam(DB00231)_%7C_Topiramate(DB00273)_%7C_Triazolam(DB00897)|Q8N4N9|O14764|signal_%20_transduction_%20_(GO:0007165)_%7C_synaptic_%20_transmission_%20_(GO:0007268)_%7C_transport_%20_(GO:0006810)|cell_%20_junction_%20_(GO:0030054)_%7C_chloride_%20_channel_%20_complex_%20_(GO:0034707)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|chloride_%20_channel_%20_activity_%20_(GO:0005254)_%7C_extracellular_%20_ligand-gated_%20_ion_%20_channel_%20_activity_%20_(GO:0005230)_%7C_GABA-A_%20_receptor_%20_activity_%20_(GO:0004890)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1959730 exm1744497 C T . PASS FUNCOTATION=[GABRD|hg19|chr1|1959730|1959730|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1959730C>T|ENST00000378585.4|+|6|773|c.690C>T|c.(688-690)tcC>tcT|p.S230S|0.6633416458852868|ACTTCAAGTCCGGTAACATAT||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC033801|NM_000815.4|NP_000806.2|HGNC:4084|gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"gamma-aminobutyric_%20_acid_%20_(GABA)_%20_A_%20_receptor_%2C__%20_delta"||"GABA(A)_%20_receptor_%2C__%20_delta"|1p36.33|2016-10-05||2016-02-04|BC033801||2563|ENSG00000187730|2176788_%2C__%20_10965146|NM_000815|563|Gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_subunits|CCDS36|OTTHUMG00000041064|2563|137163|NM_000815|O14764|ENSG00000187730|uc001aip.3|GBRD_HUMAN|Acamprosate(DB00659)_%7C_Adinazolam(DB00546)_%7C_Alprazolam(DB00404)_%7C_Amoxapine(DB00543)_%7C_Bromazepam(DB01558)_%7C_Butabarbital(DB00237)_%7C_Butalbital(DB00241)_%7C_Chlordiazepoxide(DB00475)_%7C_Cinolazepam(DB01594)_%7C_Clobazam(DB00349)_%7C_Clonazepam(DB01068)_%7C_Clorazepate(DB00628)_%7C_Clotiazepam(DB01559)_%7C_Desflurane(DB01189)_%7C_Diazepam(DB00829)_%7C_Enflurane(DB00228)_%7C_Ergoloid_%20_mesylate(DB01049)_%7C_Estazolam(DB01215)_%7C_Eszopiclone(DB00402)_%7C_Ethchlorvynol(DB00189)_%7C_Etomidate(DB00292)_%7C_Fludiazepam(DB01567)_%7C_Flumazenil(DB01205)_%7C_Flurazepam(DB00690)_%7C_Glutethimide(DB01437)_%7C_Halazepam(DB00801)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Ketazolam(DB01587)_%7C_Lorazepam(DB00186)_%7C_Meprobamate(DB00371)_%7C_Methoxyflurane(DB01028)_%7C_Methyprylon(DB01107)_%7C_Midazolam(DB00683)_%7C_Nitrazepam(DB01595)_%7C_Olanzapine(DB00334)_%7C_Oxazepam(DB00842)_%7C_Pentobarbital(DB00312)_%7C_Prazepam(DB01588)_%7C_Primidone(DB00794)_%7C_Propofol(DB00818)_%7C_Quazepam(DB01589)_%7C_Sevoflurane(DB01236)_%7C_Talbutal(DB00306)_%7C_Temazepam(DB00231)_%7C_Topiramate(DB00273)_%7C_Triazolam(DB00897)|Q8N4N9|O14764|signal_%20_transduction_%20_(GO:0007165)_%7C_synaptic_%20_transmission_%20_(GO:0007268)_%7C_transport_%20_(GO:0006810)|cell_%20_junction_%20_(GO:0030054)_%7C_chloride_%20_channel_%20_complex_%20_(GO:0034707)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|chloride_%20_channel_%20_activity_%20_(GO:0005254)_%7C_extracellular_%20_ligand-gated_%20_ion_%20_channel_%20_activity_%20_(GO:0005230)_%7C_GABA-A_%20_receptor_%20_activity_%20_(GO:0004890)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1959730 exm1744497 C T . PASS FUNCOTATION=[GABRD|hg19|chr1|1959730|1959730|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1959730C>T|ENST00000378585.4|+|6|773|c.690C>T|c.(688-690)tcC>tcT|p.S230S|0.6633416458852868|ACTTCAAGTCCGGTAACATAT||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC033801|NM_000815.4|NP_000806.2|HGNC:4084|gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"gamma-aminobutyric_%20_acid_%20_(GABA)_%20_A_%20_receptor_%2C__%20_delta"||"GABA(A)_%20_receptor_%2C__%20_delta"|1p36.33|2016-10-05||2016-02-04|BC033801||2563|ENSG00000187730|2176788_%2C__%20_10965146|NM_000815|563|Gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_subunits|CCDS36|OTTHUMG00000041064|2563|137163|NM_000815|O14764|ENSG00000187730|uc001aip.3|GBRD_HUMAN|Acamprosate(DB00659)_%7C_Adinazolam(DB00546)_%7C_Alprazolam(DB00404)_%7C_Amoxapine(DB00543)_%7C_Bromazepam(DB01558)_%7C_Butabarbital(DB00237)_%7C_Butalbital(DB00241)_%7C_Chlordiazepoxide(DB00475)_%7C_Cinolazepam(DB01594)_%7C_Clobazam(DB00349)_%7C_Clonazepam(DB01068)_%7C_Clorazepate(DB00628)_%7C_Clotiazepam(DB01559)_%7C_Desflurane(DB01189)_%7C_Diazepam(DB00829)_%7C_Enflurane(DB00228)_%7C_Ergoloid_%20_mesylate(DB01049)_%7C_Estazolam(DB01215)_%7C_Eszopiclone(DB00402)_%7C_Ethchlorvynol(DB00189)_%7C_Etomidate(DB00292)_%7C_Fludiazepam(DB01567)_%7C_Flumazenil(DB01205)_%7C_Flurazepam(DB00690)_%7C_Glutethimide(DB01437)_%7C_Halazepam(DB00801)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Ketazolam(DB01587)_%7C_Lorazepam(DB00186)_%7C_Meprobamate(DB00371)_%7C_Methoxyflurane(DB01028)_%7C_Methyprylon(DB01107)_%7C_Midazolam(DB00683)_%7C_Nitrazepam(DB01595)_%7C_Olanzapine(DB00334)_%7C_Oxazepam(DB00842)_%7C_Pentobarbital(DB00312)_%7C_Prazepam(DB01588)_%7C_Primidone(DB00794)_%7C_Propofol(DB00818)_%7C_Quazepam(DB01589)_%7C_Sevoflurane(DB01236)_%7C_Talbutal(DB00306)_%7C_Temazepam(DB00231)_%7C_Topiramate(DB00273)_%7C_Triazolam(DB00897)|Q8N4N9|O14764|signal_%20_transduction_%20_(GO:0007165)_%7C_synaptic_%20_transmission_%20_(GO:0007268)_%7C_transport_%20_(GO:0006810)|cell_%20_junction_%20_(GO:0030054)_%7C_chloride_%20_channel_%20_complex_%20_(GO:0034707)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|chloride_%20_channel_%20_activity_%20_(GO:0005254)_%7C_extracellular_%20_ligand-gated_%20_ion_%20_channel_%20_activity_%20_(GO:0005230)_%7C_GABA-A_%20_receptor_%20_activity_%20_(GO:0004890)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1963108 psy_rs75228171 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1963108|1963108|IGR||SNP|T|T|C|g.chr1:1963108T>C|no_transcript|||||||0.6483790523690773|CCCAGGCATCTGGGGCGCTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1967954 rs2376803 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1967954|1967954|IGR||SNP|C|C|T|g.chr1:1967954C>T|no_transcript|||||||0.628428927680798|ACATCGTCCACGCAGCTCAGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1979253 psy_rs76775611 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1979253|1979253|IGR||SNP|G|G|A|g.chr1:1979253G>A|no_transcript|||||||0.6608478802992519|CTTCCAGGACGGAGGCTCCCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1986954 exm5157 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1986954|1986954|IGR||SNP|G|G|A|g.chr1:1986954G>A|no_transcript|||||||0.5211970074812967|GACATGTGTCGTCTGCACCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1992748 rs6605074 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1992748|1992748|IGR||SNP|C|C|T|g.chr1:1992748C>T|no_transcript|||||||0.6159600997506235|TTTCTGTCTACGACCTCGGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2004098 rs6663158 G A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2004098|2004098|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:2004098G>A|ENST00000400921.2|+||||||0.6259351620947631|GGGTTGGTGGGTTTGCATTTG||||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2017297 rs2803310 T C . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2017297|2017297|INTRON||SNP|T|T|C|g.chr1:2017297T>C|ENST00000400921.2|+|||c.e1+11929T>C|||0.5935162094763092|AGGTCTGCACTCATGGGTGGG||||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2024064 rs2459994 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2024064|2024064|INTRON||SNP|C|C|T|g.chr1:2024064C>T|ENST00000400921.2|+|||c.e1+18696C>T|||0.5037406483790524|AGCTTGAAGACGTTGTACGTG||||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2026749 rs884080 A G . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2026749|2026749|INTRON||SNP|A|A|G|g.chr1:2026749A>G|ENST00000400921.2|+|||c.e1+21381A>G|||0.6384039900249376|TGAGCTCACCATGGTTTTGGA||||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2027901 rs7513222 G A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2027901|2027901|INTRON||SNP|G|G|A|g.chr1:2027901G>A|ENST00000400921.2|+|||c.e1+22533G>A|||0.6309226932668329|CGCCAGGAACGCGGTTGTACG||||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2035684 rs10910030 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2035684|2035684|INTRON||SNP|C|C|T|g.chr1:2035684C>T|ENST00000400921.2|+|||c.e1+30316C>T|||0.6034912718204489|GGGAGGGGAGCGGGTCGTCTC|PRKCZ_ENST00000400920.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2038139 psy_rs12749493 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2038139|2038139|INTRON||SNP|C|C|T|g.chr1:2038139C>T|ENST00000400921.2|+|||c.e2-28562C>T|||0.6458852867830424|CAAGCCCCTCCGGTGGGCGAG|PRKCZ_ENST00000400920.1_INTRON|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2038732 rs12410859 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2038732|2038732|INTRON||SNP|C|C|T|g.chr1:2038732C>T|ENST00000400921.2|+|||c.e2-27969C>T|||0.6334164588528678|AACACTGAGGCGGGATTGCGT|PRKCZ_ENST00000400920.1_INTRON|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2040898 rs4648807 T C . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2040898|2040898|INTRON||SNP|T|T|C|g.chr1:2040898T>C|ENST00000400921.2|+|||c.e2-25803T>C|||0.6109725685785536|CTCACTGAATTGTCCTGAGAT|PRKCZ_ENST00000400920.1_INTRON|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2040936 rs4648808 T C . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2040936|2040936|INTRON||SNP|T|T|C|g.chr1:2040936T>C|ENST00000400921.2|+|||c.e2-25765T>C|||0.6159600997506235|ATTAAACATGTGGATTGCAAC|PRKCZ_ENST00000400920.1_INTRON|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2069172 exm-rs425277 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2069172|2069172|INTRON||SNP|C|C|T|g.chr1:2069172C>T|ENST00000400921.2|+|||c.e2+2386C>T|||0.5785536159600998|TCCATTCTGCCGATGGCAGGT|PRKCZ_ENST00000400920.1_INTRON|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2069681 exm-rs3753242 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2069681|2069681|INTRON||SNP|C|C|T|g.chr1:2069681C>T|ENST00000400921.2|+|||c.e2+2895C>T|||0.5486284289276808|GTTGGTGAAGCGAGGATGAAA|PRKCZ_ENST00000400920.1_INTRON|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2071340 rs424079 C A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2071340|2071340|INTRON||SNP|C|C|A|g.chr1:2071340C>A|ENST00000400921.2|+|||c.e3-4309C>A|||0.5311720698254364|CATGGTAGGGCCACGTCTCTG|PRKCZ_ENST00000400920.1_INTRON/PRKCZ_ENST00000479263.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2075653 exm5179 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2075653|2075653|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:2075653C>T|ENST00000400921.2|+|3|||||0.6508728179551122|CTGCAGAGAGCGTACTGCGGT|PRKCZ_ENST00000400920.1_FIVE_PRIME_UTR/RP5-892K4.1_ENST00000606533.1_RNA/PRKCZ_ENST00000479263.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2075672 exm5180 C G . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2075672|2075672|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:2075672C>G|ENST00000400921.2|+|3|||||0.6533665835411472|GTCAGTGCAGCGAGAGGATAT|PRKCZ_ENST00000400920.1_FIVE_PRIME_UTR/RP5-892K4.1_ENST00000606533.1_RNA/PRKCZ_ENST00000479263.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2075740 exm5184 G A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2075740|2075740|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:2075740G>A|ENST00000400921.2|+|3|||||0.6483790523690773|GTCCATAAGCGCTGCCACGGC|PRKCZ_ENST00000400920.1_FIVE_PRIME_UTR/RP5-892K4.1_ENST00000606533.1_RNA/PRKCZ_ENST00000479263.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2075748 exm1748820 G A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2075748|2075748|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:2075748G>A|ENST00000400921.2|+|3|||||0.6408977556109726|GCGCTGCCACGGCCTCGTCCC|PRKCZ_ENST00000400920.1_FIVE_PRIME_UTR/RP5-892K4.1_ENST00000606533.1_RNA/PRKCZ_ENST00000479263.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2076055 psy_rs384726 G A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2076055|2076055|INTRON||SNP|G|G|A|g.chr1:2076055G>A|ENST00000400921.2|+|||c.e3+275G>A|||0.6109725685785536|TCAGTGGGTCGGAGGTAAGGT|PRKCZ_ENST00000400920.1_INTRON/RP5-892K4.1_ENST00000606533.1_RNA/PRKCZ_ENST00000479263.1_INTRON|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2082566 rs2257182 T C . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2082566|2082566|INTRON||SNP|T|T|C|g.chr1:2082566T>C|ENST00000400921.2|+|||c.e6+149T>C|||0.5586034912718204|CATCGTGTAATGACCAGGATG|PRKCZ_ENST00000400920.1_INTRON/PRKCZ_ENST00000479263.1_INTRON|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2100840 rs262643 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2100840|2100840|INTRON||SNP|C|C|T|g.chr1:2100840C>T|ENST00000400921.2|+|||c.e8-117C>T|||0.6533665835411472|TTGCTCTTTGCAAGACTGAAC|PRKCZ_ENST00000400920.1_INTRON/PRKCZ_ENST00000479263.1_INTRON|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2106745 variant.297 G A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2106745|2106745|NONSENSE||SNP|G|G|A|g.chr1:2106745G>A|ENST00000400921.2|+|13|1702|c.1019G>A|c.(1018-1020)tGg>tAg|p.W340*|0.5885286783042394|AGCATAGACTGGGACTTGGTA|PRKCZ_ENST00000400920.1_NONSENSE_p.W340*/PRKCZ_ENST00000479263.1_INTRON|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2125275 exm5287 C T . PASS FUNCOTATION=[C1orf86|hg19|chr1|2125275|2125275|SILENT||SNP|C|C|T|g.chr1:2125275C>T|ENST00000378546.4|-|3|298|c.273G>A|c.(271-273)ccG>ccA|p.P91P|0.683291770573566|ACAGGTCCGGCGGAAAGGGTG|C1orf86_ENST00000378545.3_SILENT_p.P194P/C1orf86_ENST00000400919.3_FIVE_PRIME_UTR/C1orf86_ENST00000487186.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_182533.2|NP_872339.2||||||||||||||||||||||||||||||FAP20_HUMAN||A6PW39_%7C_A6PW40_%7C_A6PW41_%7C_A8MQT6_%7C_F2Z2L4_%7C_Q6ZT64_%7C_Q71M24_%7C_Q96ND7|Q6NZ36|cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_interstrand_%20_cross-link_%20_repair_%20_(GO:0036297)_%7C_translesion_%20_synthesis_%20_(GO:0019985)|cell_%20_junction_%20_(GO:0030054)_%7C_chromosome_%20_(GO:0005694)_%7C_Fanconi_%20_anaemia_%20_nuclear_%20_complex_%20_(GO:0043240)_%7C_nucleus_%20_(GO:0005634)|K63-linked_%20_polyubiquitin_%20_binding_%20_(GO:0070530)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_polyubiquitin_%20_binding_%20_(GO:0031593)_%7C_ubiquitin_%20_binding_%20_(GO:0043130)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2135002 chr1_2135002 C T . PASS FUNCOTATION=[C1orf86|hg19|chr1|2135002|2135002|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:2135002C>T|ENST00000378545.3|-||||||0.6533665835411472|GTGCCCCTCACCTGGGGTGGA|C1orf86_ENST00000487186.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_001282670.1|NP_001269599.1||||||||||||||||||||||||||||||FAP20_HUMAN||A6PW39_%7C_A6PW40_%7C_A6PW41_%7C_A8MQT6_%7C_F2Z2L4_%7C_Q6ZT64_%7C_Q71M24_%7C_Q96ND7|Q6NZ36|cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_interstrand_%20_cross-link_%20_repair_%20_(GO:0036297)_%7C_translesion_%20_synthesis_%20_(GO:0019985)|cell_%20_junction_%20_(GO:0030054)_%7C_chromosome_%20_(GO:0005694)_%7C_Fanconi_%20_anaemia_%20_nuclear_%20_complex_%20_(GO:0043240)_%7C_nucleus_%20_(GO:0005634)|K63-linked_%20_polyubiquitin_%20_binding_%20_(GO:0070530)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_polyubiquitin_%20_binding_%20_(GO:0031593)_%7C_ubiquitin_%20_binding_%20_(GO:0043130)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2135002 chr1_2135002 C T . PASS FUNCOTATION=[C1orf86|hg19|chr1|2135002|2135002|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:2135002C>T|ENST00000378545.3|-||||||0.6533665835411472|GTGCCCCTCACCTGGGGTGGA|C1orf86_ENST00000487186.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_001282670.1|NP_001269599.1||||||||||||||||||||||||||||||FAP20_HUMAN||A6PW39_%7C_A6PW40_%7C_A6PW41_%7C_A8MQT6_%7C_F2Z2L4_%7C_Q6ZT64_%7C_Q71M24_%7C_Q96ND7|Q6NZ36|cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_interstrand_%20_cross-link_%20_repair_%20_(GO:0036297)_%7C_translesion_%20_synthesis_%20_(GO:0019985)|cell_%20_junction_%20_(GO:0030054)_%7C_chromosome_%20_(GO:0005694)_%7C_Fanconi_%20_anaemia_%20_nuclear_%20_complex_%20_(GO:0043240)_%7C_nucleus_%20_(GO:0005634)|K63-linked_%20_polyubiquitin_%20_binding_%20_(GO:0070530)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_polyubiquitin_%20_binding_%20_(GO:0031593)_%7C_ubiquitin_%20_binding_%20_(GO:0043130)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2143168 psy_rs171904 A G . PASS FUNCOTATION=[C1orf86|hg19|chr1|2143168|2143168|INTRON||SNP|A|A|G|g.chr1:2143168A>G|ENST00000487186.1|-|||c.e2-643T>C|||0.5411471321695761|GATTACAGGCATGAGCCACCG|RP11-181G12.4_ENST00000442483.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||||||||||||||||||||||||||||||||||FAP20_HUMAN||A6PW39_%7C_A6PW40_%7C_A6PW41_%7C_A8MQT6_%7C_F2Z2L4_%7C_Q6ZT64_%7C_Q71M24_%7C_Q96ND7|Q6NZ36|cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_interstrand_%20_cross-link_%20_repair_%20_(GO:0036297)_%7C_translesion_%20_synthesis_%20_(GO:0019985)|cell_%20_junction_%20_(GO:0030054)_%7C_chromosome_%20_(GO:0005694)_%7C_Fanconi_%20_anaemia_%20_nuclear_%20_complex_%20_(GO:0043240)_%7C_nucleus_%20_(GO:0005634)|K63-linked_%20_polyubiquitin_%20_binding_%20_(GO:0070530)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_polyubiquitin_%20_binding_%20_(GO:0031593)_%7C_ubiquitin_%20_binding_%20_(GO:0043130)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2143491 psy_rs143314458 G A . PASS FUNCOTATION=[AL590822.1|hg19|chr1|2143491|2143491|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:2143491G>A|ENST00000545087.1|-|1|||||0.571072319201995|ACAGGCGCCCGCCACCACGCC|C1orf86_ENST00000487186.1_INTRON/RP11-181G12.4_ENST00000442483.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||AL590822||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2146966 rs7512482 T C . PASS FUNCOTATION=[AL590822.1|hg19|chr1|2146966|2146966|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:2146966T>C|ENST00000545087.1|-||||||0.6758104738154613|AGGACCTGCGTGAAGGAGCCC|RP11-181G12.4_ENST00000442483.2_LINCRNA/RP11-181G12.5_ENST00000420964.1_FIVE_PRIME_FLANK/C1orf86_ENST00000487186.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||AL590822||||||||||||||||||||||||||||||||||||||||||true|false|0.7963_%2C_0.2037|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7512482|2146966|false|false|0|true|0|false|0.761969_%2C_0.238031|false|false|false|SNV|true|0x05010000000517053f000100|1|false|116|rs7512482|] -chr1 2156362 rs2460000 A G . PASS FUNCOTATION=[SKI|hg19|chr1|2156362|2156362|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:2156362A>G|ENST00000378536.4|+||||||0.6408977556109726|CAAGCTCAGGAAGAAAAGTGG||Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2173504 rs263526 T C . PASS FUNCOTATION=[SKI|hg19|chr1|2173504|2173504|INTRON||SNP|T|T|C|g.chr1:2173504T>C|ENST00000378536.4|+|||c.e1+12330T>C|||0.571072319201995|CAATATCTTGTTGGGAGGCAG||Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2173811 psy_rs55781948 C T . PASS FUNCOTATION=[SKI|hg19|chr1|2173811|2173811|INTRON||SNP|C|C|T|g.chr1:2173811C>T|ENST00000378536.4|+|||c.e1+12637C>T|||0.516209476309227|TGTTTGTTCACGTCAGGGGAG||Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2180524 rs260513 G A . PASS FUNCOTATION=[SKI|hg19|chr1|2180524|2180524|INTRON||SNP|G|G|A|g.chr1:2180524G>A|ENST00000378536.4|+|||c.e1+19350G>A|||0.6159600997506235|TGGCAGATGCGGTCGAGTGCT|SKI_ENST00000478223.2_INTRON|Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2184755 psy_rs114462818 C T . PASS FUNCOTATION=[SKI|hg19|chr1|2184755|2184755|INTRON||SNP|C|C|T|g.chr1:2184755C>T|ENST00000378536.4|+|||c.e1+23581C>T|||0.5685785536159601|CCAGAGCACCCAGGCCGGTAT|SKI_ENST00000478223.2_INTRON|Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2188679 psy_rs55683510 C T . PASS FUNCOTATION=[SKI|hg19|chr1|2188679|2188679|INTRON||SNP|C|C|T|g.chr1:2188679C>T|ENST00000378536.4|+|||c.e1+27505C>T|||0.5012468827930174|GTTTCCTCTGCATTCCTTTGG|SKI_ENST00000478223.2_INTRON|Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2189580 rs12084736 C T . PASS FUNCOTATION=[SKI|hg19|chr1|2189580|2189580|INTRON||SNP|C|C|T|g.chr1:2189580C>T|ENST00000378536.4|+|||c.e1+28406C>T|||0.46384039900249374|TTATTTGCGACTTTAACCAGA|SKI_ENST00000478223.2_INTRON|Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2202967 rs903908 T C . PASS FUNCOTATION=[SKI|hg19|chr1|2202967|2202967|INTRON||SNP|T|T|C|g.chr1:2202967T>C|ENST00000378536.4|+|||c.e2-31450T>C|||0.6783042394014963|TTCCGCGGAGTGCCCGGCTGC|SKI_ENST00000478223.2_INTRON|Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2211849 rs10910047 A G . PASS FUNCOTATION=[SKI|hg19|chr1|2211849|2211849|INTRON||SNP|A|A|G|g.chr1:2211849A>G|ENST00000378536.4|+|||c.e2-22568A>G|||0.5386533665835411|GCCCCTTCTCACAAGGGGGCT|SKI_ENST00000478223.2_INTRON|Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2216368 psy_rs4648821 T G . PASS FUNCOTATION=[SKI|hg19|chr1|2216368|2216368|INTRON||SNP|T|T|G|g.chr1:2216368T>G|ENST00000378536.4|+|||c.e2-18049T>G|||0.5660847880299252|AGGTGCACCATGCGGGCCTTT|SKI_ENST00000478223.2_INTRON|Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2220649 rs2017143 C T . PASS FUNCOTATION=[SKI|hg19|chr1|2220649|2220649|INTRON||SNP|C|C|T|g.chr1:2220649C>T|ENST00000378536.4|+|||c.e2-13768C>T|||0.6084788029925187|TATGTTGAGCCTCTCTAGGCA|SKI_ENST00000478223.2_INTRON|Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2223866 rs884940 C T . PASS FUNCOTATION=[SKI|hg19|chr1|2223866|2223866|INTRON||SNP|C|C|T|g.chr1:2223866C>T|ENST00000378536.4|+|||c.e2-10551C>T|||0.6209476309226932|ATCTAGCAGACGTTCATCAGG|SKI_ENST00000478223.2_INTRON|Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2242298 psy_rs146894003 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|2242298|2242298|IGR||SNP|G|G|A|g.chr1:2242298G>A|no_transcript|||||||0.6533665835411472|GTGCCATGCCGCATGCCAATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2254910 psy_rs2645075 T C . PASS FUNCOTATION=[MORN1|hg19|chr1|2254910|2254910|INTRON||SNP|T|T|C|g.chr1:2254910T>C|ENST00000378531.3|-|||c.e13-626A>G|||0.6683291770573566|TCAGCCGCGGTGCCCAGGTCC|AL589739.1_ENST00000600779.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.1851_%2C_0.8149|false|false|1||false|true|false|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2645075|2254910|true|false|0|true|0|false|0.184606_%2C_0.815394|false|false|false|SNV|true|0x05010008000515053f000100|1|false|100|rs2645075|] -chr1 2261222 rs2645065 C A . PASS FUNCOTATION=[MORN1|hg19|chr1|2261222|2261222|INTRON||SNP|C|C|A|g.chr1:2261222C>A|ENST00000378531.3|-|||c.e13+5640G>T|||0.6633416458852868|AGATAGTGTTCCCCAAGGCCC|RP4-713A8.1_ENST00000607720.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.9062_%2C_0.09385_%2C_.|false|false|1||false|true|false|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2645065|2261222|false|false|0|true|0|false|0.878975_%2C_0.121025_%2C_.|false|false|false|SNV|true|0x05010008000515053f000100|1|false|100|rs2645065|] -chr1 2263888 rs903904 C T . PASS FUNCOTATION=[MORN1|hg19|chr1|2263888|2263888|INTRON||SNP|C|C|T|g.chr1:2263888C>T|ENST00000378531.3|-|||c.e12-4020G>A|||0.6433915211970075|GATGGGCGACCCCTGGCCCCG|MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.8397_%2C_0.1603|false|false|1||false|true|false|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|903904|2263888|false|false|0|true|0|false|0.833665_%2C_0.166335|false|false|false|SNV|true|0x05010008000515053f000101|1|false|86|rs903904|] -chr1 2268156 exm5460 C G . PASS FUNCOTATION=[MORN1|hg19|chr1|2268156|2268156|SPLICE_SITE|MISSENSE|SNP|C|C|G|g.chr1:2268156C>G|ENST00000378531.3|-|11|1344|c.1170G>C|c.(1168-1170)aaG>aaC|p.K390N|0.655860349127182|GGGCACCCACCTTGTGGAGGC|MORN1_ENST00000606372.1_SPLICE_SITE|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false||false|false|||false|false|false|MORN1:79906|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|561543765|2268156|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000a05000402000100|1|false|142|rs561543765|] -chr1 2280661 rs2055204 G A . PASS FUNCOTATION=[MORN1|hg19|chr1|2280661|2280661|INTRON||SNP|G|G|A|g.chr1:2280661G>A|ENST00000378531.3|-|||c.e10-8210C>T|||0.6084788029925187|CCTCAGAGAAGAGAAAAGGAC|MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.5178_%2C_0.4822|false|false|1||false|true|true|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2055204|2280661|false|false|0|true|0|false|0.608455_%2C_0.391545|false|false|false|SNV|true|0x05010008000517053f000101|1|false|94|rs2055204|] -chr1 2281726 rs7527871 A C . PASS FUNCOTATION=[MORN1|hg19|chr1|2281726|2281726|INTRON||SNP|A|A|C|g.chr1:2281726A>C|ENST00000378531.3|-|||c.e10-7145T>G|||0.3516209476309227|TTCTCAACGAAATGCAAATCC|MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.7979_%2C_0.2021|false|false|1||false|true|false|LOC100129534:100129534_%7C_MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|7527871|2281726|false|false|0|true|0|false|0.850161_%2C_0.149839|false|false|false|SNV|true|0x0501000c000515053f000100|1|false|116|rs7527871|] -chr1 2282135 rs10910053 G A . PASS FUNCOTATION=[MORN1|hg19|chr1|2282135|2282135|INTRON||SNP|G|G|A|g.chr1:2282135G>A|ENST00000378531.3|-|||c.e10-6736C>T|||0.6234413965087282|AGTGGCCCTGGCCCAGCAGGA|RP4-740C4.6_ENST00000602865.1_RNA/MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.6753_%2C_0.3247|false|false|1||false|true|true|LOC100129534:100129534_%7C_MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10910053|2282135|false|false|0|true|0|false|0.646507_%2C_0.353493|false|false|false|SNV|true|0x05010008000517053f000100|1|false|120|rs10910053|] -chr1 2283117 rs4648831 C T . PASS FUNCOTATION=[MORN1|hg19|chr1|2283117|2283117|INTRON||SNP|C|C|T|g.chr1:2283117C>T|ENST00000378531.3|-|||c.e10-5754G>A|||0.5286783042394015|CTTTTCTTCACGTGCTGGTTG|RP4-740C4.6_ENST00000602865.1_RNA/MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.9077_%2C_._%2C_0.09225|false|false|1||false|true|false|LOC100129534:100129534_%7C_MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4648831|2283117|false|false|0|true|0|false|0.881654_%2C_._%2C_0.118346|false|false|false|SNV|true|0x050100080005150537000101|1|false|111|rs4648831|] -chr1 2283313 rs2843130 C G . PASS FUNCOTATION=[MORN1|hg19|chr1|2283313|2283313|INTRON||SNP|C|C|G|g.chr1:2283313C>G|ENST00000378531.3|-|||c.e10-5558G>C|||0.5211970074812967|GCCGTTCCCCCAGATCCAATG|RP4-740C4.6_ENST00000602865.1_RNA/MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.8155_%2C_0.1845|false|false|1||false|true|false|LOC100129534:100129534_%7C_MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2843130|2283313|true|false|0|true|0|false|0.881894_%2C_0.118106|false|false|false|SNV|true|0x050100080005150537000100|1|false|100|rs2843130|] -chr1 2283896 rs2840528 A G . PASS FUNCOTATION=[MORN1|hg19|chr1|2283896|2283896|INTRON||SNP|A|A|G|g.chr1:2283896A>G|ENST00000378531.3|-|||c.e10-4975T>C|||0.5910224438902744|TGCTAAAAGTAGCCACATCTC|RP4-740C4.6_ENST00000602865.1_RNA/MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.4283_%2C_0.5717|false|false|1||false|true|false|LOC100129534:100129534_%7C_MORN1:79906|true|true|true|true|true|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|2840528|2283896|false|false|0|true|0|false|0.433272_%2C_0.566728|false|false|false|SNV|true|0x05012008000515053f020101|1|false|100|rs2840528|] -chr1 2284003 rs2645082 T C . PASS FUNCOTATION=[MORN1|hg19|chr1|2284003|2284003|INTRON||SNP|T|T|C|g.chr1:2284003T>C|ENST00000378531.3|-|||c.e10-4868A>G|||0.5960099750623441|GGGAGCCACCTGAGGGGCTTG|RP4-740C4.6_ENST00000602865.1_RNA/MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.123_%2C_0.877|false|false|1||false|true|false|LOC100129534:100129534_%7C_MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2645082|2284003|false|false|0|true|0|false|0.153685_%2C_0.846315|false|false|false|SNV|true|0x05010008000515053f000100|1|false|100|rs2645082|] -chr1 2284195 rs3795272 T C . PASS FUNCOTATION=[MORN1|hg19|chr1|2284195|2284195|INTRON||SNP|T|T|C|g.chr1:2284195T>C|ENST00000378531.3|-|||c.e10-4676A>G|||0.6084788029925187|GCAGGTACCCTGGAGATTTTC|RP4-740C4.6_ENST00000602865.1_RNA/MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.6893_%2C_0.3107|false|false|1||false|true|true|LOC100129534:100129534_%7C_MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3795272|2284195|true|false|0|true|0|false|0.711072_%2C_0.288928|false|false|false|SNV|true|0x0501000a000517053f000100|1|false|107|rs3795272|] -chr1 2306695 rs2279703 C T . PASS FUNCOTATION=[MORN1|hg19|chr1|2306695|2306695|INTRON||SNP|C|C|T|g.chr1:2306695C>T|ENST00000378529.3|-|||c.e7+699G>A|||0.5361596009975063|TGTTCACTCTCTGGCAGGAGC|MORN1_ENST00000378531.3_INTRON/RP4-740C4.9_ENST00000606642.1_RNA/MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|||HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.6216_%2C_0.3784|false|false|1||false|true|true|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2279703|2306695|false|false|0|true|0|false|0.67223_%2C_0.32777|false|false|false|SNV|true|0x05010008000517053f000100|1|false|100|rs2279703|] -chr1 2309082 rs2843160 T G . PASS FUNCOTATION=[MORN1|hg19|chr1|2309082|2309082|INTRON||SNP|T|T|G|g.chr1:2309082T>G|ENST00000378529.3|-|||c.e7+3086A>C|||0.5985037406483791|TATTGGAAGCTATGCCCTCTG|MORN1_ENST00000378531.3_INTRON/RP4-740C4.8_ENST00000606280.1_RNA/MORN1_ENST00000606372.1_INTRON/RP4-740C4.9_ENST00000606642.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|||HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.5102_%2C_0.4898|false|false|1||false|true|false|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2843160|2309082|true|false|0|true|0|false|0.574559_%2C_0.425441|false|false|false|SNV|true|0x05010008000515053f000100|1|false|100|rs2843160|] -chr1 2327075 rs3736330 C T . PASS FUNCOTATION=[RER1|hg19|chr1|2327075|2327075|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:2327075C>T|ENST00000488353.1|+|1|||||0.5211970074812967|TACTTTTTCCCGAACAATTCA|RER1_ENST00000605895.1_INTRON/RER1_ENST00000378512.1_INTRON/RER1_ENST00000378518.1_INTRON/RER1_ENST00000378513.3_INTRON/MORN1_ENST00000378529.3_FIVE_PRIME_FLANK/MORN1_ENST00000378531.3_FIVE_PRIME_FLANK/MORN1_ENST00000606372.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|||HGNC:30309|retention_%20_in_%20_endoplasmic_%20_reticulum_%20_sorting_%20_receptor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"RER1_%20_retention_%20_in_%20_endoplasmic_%20_reticulum_%20_1_%20_homolog_%20_(S._%20_cerevisiae)"|||1p36.32|2016-10-05||2013-10-18|AF157324||11079|ENSG00000157916|9309388_%2C__%20_17668005||||CCDS41232|OTTHUMG00000001403|11079||NM_007033|O15258|ENSG00000157916|uc001aje.3|RER1_HUMAN||O95322|O15258|positive_%20_regulation_%20_of_%20_establishment_%20_of_%20_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0090004)_%7C_retrograde_%20_vesicle-mediated_%20_transport_%2C__%20_Golgi_%20_to_%20_ER_%20_(GO:0006890)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)|cell_%20_surface_%20_(GO:0009986)_%7C_endoplasmic_%20_reticulum-Golgi_%20_intermediate_%20_compartment_%20_(GO:0005793)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_Golgi_%20_membrane_%20_(GO:0030173)|||||true|false|0.7638_%2C_0.2362|false|false|1||false|true|false|RER1:11079|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3736330|2327075|false|false|0|true|0|false|0.789718_%2C_0.210282|false|false|false|SNV|true|0x050100080005150537000100|1|false|107|rs3736330|] -chr1 2327815 exm2268641 C T . PASS FUNCOTATION=[RER1|hg19|chr1|2327815|2327815|INTRON||SNP|C|C|T|g.chr1:2327815C>T|ENST00000605895.1|+|||c.e2+505C>T|||0.4613466334164589|CTTGGGTCACCGGCAGTTCCA|RER1_ENST00000488353.1_INTRON/RER1_ENST00000378512.1_INTRON/RER1_ENST00000378518.1_INTRON/RER1_ENST00000378513.3_INTRON/MORN1_ENST00000378529.3_FIVE_PRIME_FLANK/MORN1_ENST00000378531.3_FIVE_PRIME_FLANK/MORN1_ENST00000606372.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_007033.4|NP_008964.3|HGNC:30309|retention_%20_in_%20_endoplasmic_%20_reticulum_%20_sorting_%20_receptor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"RER1_%20_retention_%20_in_%20_endoplasmic_%20_reticulum_%20_1_%20_homolog_%20_(S._%20_cerevisiae)"|||1p36.32|2016-10-05||2013-10-18|AF157324||11079|ENSG00000157916|9309388_%2C__%20_17668005||||CCDS41232|OTTHUMG00000001403|11079||NM_007033|O15258|ENSG00000157916|uc001aje.3|RER1_HUMAN||O95322|O15258|positive_%20_regulation_%20_of_%20_establishment_%20_of_%20_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0090004)_%7C_retrograde_%20_vesicle-mediated_%20_transport_%2C__%20_Golgi_%20_to_%20_ER_%20_(GO:0006890)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)|cell_%20_surface_%20_(GO:0009986)_%7C_endoplasmic_%20_reticulum-Golgi_%20_intermediate_%20_compartment_%20_(GO:0005793)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_Golgi_%20_membrane_%20_(GO:0030173)|||||true|false|0.4758_%2C_0.5242|false|false|1||false|true|false|RER1:11079|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2840532|2327815|true|false|0|true|0|false|0.482588_%2C_0.517412|false|false|false|SNV|true|0x05010008000515053f000101|1|false|100|rs2840532|] -chr1 2330190 rs6693447 T G . PASS FUNCOTATION=[RER1|hg19|chr1|2330190|2330190|INTRON||SNP|T|T|G|g.chr1:2330190T>G|ENST00000605895.1|+|||c.e4-664T>G|||0.4488778054862843|TGCTTAATCATTTTAAAAAAT|RER1_ENST00000488353.1_INTRON/RER1_ENST00000378512.1_INTRON/RER1_ENST00000378518.1_INTRON/RER1_ENST00000378513.3_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_007033.4|NP_008964.3|HGNC:30309|retention_%20_in_%20_endoplasmic_%20_reticulum_%20_sorting_%20_receptor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"RER1_%20_retention_%20_in_%20_endoplasmic_%20_reticulum_%20_1_%20_homolog_%20_(S._%20_cerevisiae)"|||1p36.32|2016-10-05||2013-10-18|AF157324||11079|ENSG00000157916|9309388_%2C__%20_17668005||||CCDS41232|OTTHUMG00000001403|11079||NM_007033|O15258|ENSG00000157916|uc001aje.3|RER1_HUMAN||O95322|O15258|positive_%20_regulation_%20_of_%20_establishment_%20_of_%20_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0090004)_%7C_retrograde_%20_vesicle-mediated_%20_transport_%2C__%20_Golgi_%20_to_%20_ER_%20_(GO:0006890)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)|cell_%20_surface_%20_(GO:0009986)_%7C_endoplasmic_%20_reticulum-Golgi_%20_intermediate_%20_compartment_%20_(GO:0005793)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_Golgi_%20_membrane_%20_(GO:0030173)|||||true|false|0.6514_%2C_0.3486|false|false|1||false|true|true|RER1:11079|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6693447|2330190|false|false|0|true|0|false|0.627584_%2C_0.372416|false|false|false|SNV|true|0x05010008000517053f000100|1|false|116|rs6693447|] -chr1 2330953 variant.313 G A . PASS FUNCOTATION=[RER1|hg19|chr1|2330953|2330953|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:2330953G>A|ENST00000605895.1|+|4|419|c.286G>A|c.(286-288)Gat>Aat|p.D96N|0.4763092269326683|GGAAGACTCAGGTAGGGTAGC|RER1_ENST00000488353.1_SPLICE_SITE_p.D96N/RER1_ENST00000378512.1_SPLICE_SITE_p.D96N/RER1_ENST00000378518.1_INTRON/RER1_ENST00000378513.3_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_007033.4|NP_008964.3|HGNC:30309|retention_%20_in_%20_endoplasmic_%20_reticulum_%20_sorting_%20_receptor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"RER1_%20_retention_%20_in_%20_endoplasmic_%20_reticulum_%20_1_%20_homolog_%20_(S._%20_cerevisiae)"|||1p36.32|2016-10-05||2013-10-18|AF157324||11079|ENSG00000157916|9309388_%2C__%20_17668005||||CCDS41232|OTTHUMG00000001403|11079||NM_007033|O15258|ENSG00000157916|uc001aje.3|RER1_HUMAN||O95322|O15258|positive_%20_regulation_%20_of_%20_establishment_%20_of_%20_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0090004)_%7C_retrograde_%20_vesicle-mediated_%20_transport_%2C__%20_Golgi_%20_to_%20_ER_%20_(GO:0006890)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)|cell_%20_surface_%20_(GO:0009986)_%7C_endoplasmic_%20_reticulum-Golgi_%20_intermediate_%20_compartment_%20_(GO:0005793)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_Golgi_%20_membrane_%20_(GO:0030173)|||||true|false||false|false|||false|false|false|RER1:11079|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|769814129|2330953|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000a05000402000100|1|false|144|rs769814129|] -chr1 2351699 rs3935659 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|2351699|2351699|IGR||SNP|T|T|C|g.chr1:2351699T>C|no_transcript|||||||0.6209476309226932|AGGCAGCACCTACCTCTTGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2352146 rs12731309 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|2352146|2352146|IGR||SNP|C|C|T|g.chr1:2352146C>T|no_transcript|||||||0.543640897755611|GAAAAATCTCCTCTTCAGGCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2358944 rs10797423 A C . PASS FUNCOTATION=[Unknown|hg19|chr1|2358944|2358944|IGR||SNP|A|A|C|g.chr1:2358944A>C|no_transcript|||||||0.6758104738154613|AGGGAGAGGGAGCCCCTCTGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6398_%2C_0.3602_%2C_.|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10797423|2358944|false|false|0|true|0|false|0.642214_%2C_0.357786_%2C_.|false|false|false|SNV|true|0x05010000000517053f000100|1|false|120|rs10797423|] -chr1 2359917 rs2494436 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|2359917|2359917|IGR||SNP|T|T|C|g.chr1:2359917T>C|no_transcript|||||||0.685785536159601|CTGTCCTGCATGGGGTCCTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2606_%2C_0.7394|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2494436|2359917|false|false|0|true|0|false|0.2823_%2C_0.7177|false|false|false|SNV|true|0x05010000000517053f000100|1|false|100|rs2494436|] -chr1 2359940 rs7515934 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|2359940|2359940|IGR||SNP|C|C|T|g.chr1:2359940C>T|no_transcript|||||||0.6758104738154613|CTGGCTCGCCCGGTGCCGTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8113_%2C_0.1887|false|false|1||false|true|false||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7515934|2359940|false|false|0|true|0|false|0.85758_%2C_0.14242|false|false|false|SNV|true|0x050100000005150537000100|1|false|116|rs7515934|] -chr1 2362827 rs2494641 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|2362827|2362827|IGR||SNP|C|C|T|g.chr1:2362827C>T|no_transcript|||||||0.6408977556109726|GAGGTGGCTCCGGCTTGTCAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6795_%2C_0.3205|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2494641|2362827|true|false|0|true|0|false|0.714403_%2C_0.285597|false|false|false|SNV|true|0x05010000000517053f000100|1|false|100|rs2494641|] -chr1 2366611 psy_rs75631842 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|2366611|2366611|IGR||SNP|G|G|A|g.chr1:2366611G>A|no_transcript|||||||0.6533665835411472|TCACCAGGACGAAGGAGAGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8618_%2C_0.1382|false|false|1||false|true|false||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|75631842|2366611|false|false|0|true|0|false|0.882341_%2C_0.117659|false|false|false|SNV|true|0x050100000005150536000100|1|false|131|rs75631842|] -chr1 2368232 psy_rs4233033 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|2368232|2368232|IGR||SNP|T|T|C|g.chr1:2368232T>C|no_transcript|||||||0.6433915211970075|TCGTGGGCACTGTGGCTCCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3239_%2C_0.6761|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4233033|2368232|false|false|0|true|0|false|0.423243_%2C_0.576757|false|false|false|SNV|true|0x05010000000517053e000100|1|false|111|rs4233033|] -chr1 2368706 psy_rs2494439 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|2368706|2368706|IGR||SNP|T|T|C|g.chr1:2368706T>C|no_transcript|||||||0.6209476309226932|CGAGCCCCTCTTCTCTGAGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4397_%2C_0.5603|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2494439|2368706|false|false|0|true|0|false|0.549042_%2C_0.450958|false|false|false|SNV|true|0x05010000000517053e000100|1|false|100|rs2494439|] -chr1 2368775 psy_rs2494639 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|2368775|2368775|IGR||SNP|T|T|C|g.chr1:2368775T>C|no_transcript|||||||0.6209476309226932|AGTGCCCAGCTCCTACTCCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3782_%2C_0.6218|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2494639|2368775|true|false|0|true|0|false|0.48197_%2C_0.51803|false|false|false|SNV|true|0x05010000000517053e000100|1|false|100|rs2494639|] -chr1 2369375 psy_rs80047719 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|2369375|2369375|IGR||SNP|G|G|A|g.chr1:2369375G>A|no_transcript|||||||0.5835411471321695|CTTTGGCCTCGAAGGCCTTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9545_%2C_0.04553|false|false|1||false|true|false||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|80047719|2369375|false|false|0|true|0|false|0.951508_%2C_0.0484923|false|false|false|SNV|true|0x050100000005150536000100|1|false|132|rs80047719|] -chr1 2369498 psy_rs4592207 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|2369498|2369498|IGR||SNP|T|T|C|g.chr1:2369498T>C|no_transcript|||||||0.6433915211970075|TCTTGGCAACTTGGTTGTGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.472_%2C_0.528|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4592207|2369498|false|false|0|true|0|false|0.601346_%2C_0.398654|false|false|false|SNV|true|0x05010000000517053e000100|1|false|111|rs4592207|] -chr1 2372320 psy_rs12033966 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|2372320|2372320|IGR||SNP|A|A|G|g.chr1:2372320A>G|no_transcript|||||||0.6184538653366584|GTGCTTGGCCACGTCCCCCCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8976_%2C_0.1024|false|false|1||false|true|false||true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|12033966|2372320|false|false|0|true|0|false|0.938938_%2C_0.0610619|false|false|false|SNV|true|0x05010000000515013e000100|1|false|120|rs12033966|] -chr1 2372321 psy_rs58946679 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|2372321|2372321|IGR||SNP|C|C|T|g.chr1:2372321C>T|no_transcript|||||||0.6159600997506235|TGCTTGGCCACGTCCCCCCGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6154_%2C_0.3846|false|false|1||false|true|true||true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|58946679|2372321|false|false|0|true|0|false|0.708462_%2C_0.291538|false|false|false|SNV|true|0x050100000005170136000100|1|false|129|rs58946679|] -chr1 2372397 psy_rs6688934 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|2372397|2372397|IGR||SNP|A|A|G|g.chr1:2372397A>G|no_transcript|||||||0.6109725685785536|CACAACTGCCAAGATCTGGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.281_%2C_0.719|false|false|1||false|true|true||true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6688934|2372397|false|false|0|true|0|false|0.36462_%2C_0.63538|false|false|false|SNV|true|0x05010000000517013e000100|1|false|116|rs6688934|] -chr1 2372858 psy_rs2494425 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|2372858|2372858|IGR||SNP|T|T|C|g.chr1:2372858T>C|no_transcript|||||||0.6259351620947631|AGCCTGGGGATGTTCATTCAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2019_%2C_0.7981|false|false|1||false|true|false||true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2494425|2372858|false|false|0|true|0|false|0.272752_%2C_0.727248|false|false|false|SNV|true|0x05010000000515013e000100|1|false|100|rs2494425|] -chr1 2373089 rs6659405 G T . PASS FUNCOTATION=[Unknown|hg19|chr1|2373089|2373089|IGR||SNP|G|G|T|g.chr1:2373089G>T|no_transcript|||||||0.6059850374064838|GGTCCCTGGTGTAGGGGTAAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6641_%2C_0.3359|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6659405|2373089|false|false|0|true|0|false|0.745278_%2C_0.254722|false|false|false|SNV|true|0x05010000000517053f000100|1|false|116|rs6659405|] -chr1 2381622 psy_rs867809 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|2381622|2381622|IGR||SNP|A|A|G|g.chr1:2381622A>G|no_transcript|||||||0.6209476309226932|CTGGGCCTCGACGGGGGGGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.531_%2C_0.469|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|867809|2381622|false|false|0|true|0|false|0.598599_%2C_0.401401|false|false|false|SNV|true|0x05010000000517053e000100|1|false|86|rs867809|] -chr1 2383756 psy_rs10797425 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|2383756|2383756|IGR||SNP|A|A|G|g.chr1:2383756A>G|no_transcript|||||||0.6807980049875312|CCTGCCTGGCAGGTAGCAGCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4669_%2C_0.5331|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10797425|2383756|false|false|0|true|0|false|0.532592_%2C_0.467408|false|false|false|SNV|true|0x05010000000517053e000100|1|false|120|rs10797425|] -chr1 2387101 rs4648845 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|2387101|2387101|IGR||SNP|C|C|T|g.chr1:2387101C>T|no_transcript|||||||0.6807980049875312|CAGGAGCAGTCAGAAGCTTCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3766_%2C_0.6234|false|false|1||false|true|true||true|true|false|true|true|false|true|false|false|false|false|false|false|false|false|true|true|false|false|false|4648845|2387101|false|false|0|true|0|false|0.514905_%2C_0.485095|false|false|false|SNV|true|0x05012800000517053f020100|1|false|111|rs4648845|] -chr1 2387269 psy_rs61763911 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|2387269|2387269|IGR||SNP|G|G|A|g.chr1:2387269G>A|no_transcript|||||||0.6433915211970075|CTCCCCGGCCGTGCCCCGGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7384_%2C_0.2616|false|false|1||false|true|true||true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|61763911|2387269|false|false|0|true|0|false|0.770486_%2C_0.229514|false|false|false|SNV|true|0x050100000005170136000100|1|false|129|rs61763911|] -chr1 2387715 psy_rs12037821 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|2387715|2387715|IGR||SNP|C|C|T|g.chr1:2387715C>T|no_transcript|||||||0.6608478802992519|CGAGCGCAGCCCCCCCAGTTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8452_%2C_._%2C_._%2C_0.1548|false|false|1||false|true|false||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|12037821|2387715|false|false|0|true|0|false|0.908201_%2C_._%2C_._%2C_0.0917989|false|false|false|SNV|true|0x050100000005150536000100|1|false|120|rs12037821|] -chr1 2389152 psy_rs4648846 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|2389152|2389152|IGR||SNP|G|G|A|g.chr1:2389152G>A|no_transcript|||||||0.5935162094763092|CCCCAAAGGCGAAGGTGGCTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6532_%2C_0.3468|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4648846|2389152|false|false|0|true|0|false|0.739078_%2C_0.260922|false|false|false|SNV|true|0x05010000000517053e000100|1|false|111|rs4648846|] -chr1 2420787 exm2250942 A T . PASS FUNCOTATION=[PLCH2|hg19|chr1|2420787|2420787|SILENT||SNP|A|A|T|g.chr1:2420787A>T|ENST00000419816.2|+|9|1651|c.1377A>T|c.(1375-1377)ccA>ccT|p.P459P|0.5960099750623441|TCCCCTCTCCACAGATGCTCA|PLCH2_ENST00000449969.1_SILENT_p.P432P/PLCH2_ENST00000378486.3_SILENT_p.P459P/PLCH2_ENST00000378488.3_SILENT_p.P459P/PLCH2_ENST00000288766.5_INTRON|||||||||||||||||||||||||228|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(46)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_skin(43)|||||||DQ176850|||HGNC:29037|phospholipase_%20_C_%20_eta_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PLCL4|"phospholipase_%20_C-like_%20_4"_%2C__%20_"phospholipase_%20_C_%2C__%20_eta_%20_2"|KIAA0450_%2C__%20_PLCeta2_%2C__%20_RP3-395M20.1_%2C__%20_PLC-eta2|"1-phosphatidylinositol_%20_4_%2C_5-bisphosphate_%20_phosphodiesterase_%20_eta-2"|1p36.32|2015-11-17|2006-03-16|2015-11-17|AB007919|3.1.4.11|9651|ENSG00000149527|15899900|NM_014638|467_%7C_863|Phospholipases_%7C_EF-hand_%20_domain_%20_containing|CCDS59959|OTTHUMG00000000719|9651|612836|NM_001303012|O75038|ENSG00000149527|uc057bmp.1|PLCH2_HUMAN||A2VCM3_%7C_B9DI80_%7C_Q3LUA8_%7C_Q86XJ2_%7C_Q86XU1_%7C_Q86YU7_%7C_Q8TEH5_%7C_Q8WUS6|O75038|inositol_%20_phosphate_%20_metabolic_%20_process_%20_(GO:0043647)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_lipid_%20_catabolic_%20_process_%20_(GO:0016042)_%7C_phosphatidylinositol_%20_metabolic_%20_process_%20_(GO:0046488)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytoplasm_%20_(GO:0005737)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_phosphatidylinositol_%20_phospholipase_%20_C_%20_activity_%20_(GO:0004435)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false||false|false|||false|false|false|PLCH2:9651|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|202216018|2420787|false|true|0|false|0|true|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050200000305040402000100|1|false|137|rs202216018|] -chr1 2440415 exm2250954 G A . PASS FUNCOTATION=[PANK4|hg19|chr1|2440415|2440415|SILENT||SNP|G|G|A|g.chr1:2440415G>A|ENST00000378466.3|-|19|2206|c.2193C>T|c.(2191-2193)caC>caT|p.H731H|0.6234413965087282|GGTAGTTTGTGTGGACAGCAC|PANK4_ENST00000435556.3_SILENT_p.H692H|||||||||||||||||||||||||276|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(22)_%7C_large_intestine(37)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_upper_aerodigestive_tract(121)|||||||CH471183|NM_018216.1|NP_060686.1|HGNC:19366|pantothenate_%20_kinase_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10782||1p36.32|2015-08-25|||AK001644||55229|ENSG00000157881|11479594||||CCDS42|OTTHUMG00000000791|55229|606162|NM_018216|Q9NVE7|ENSG00000157881|uc001ajm.3|PANK4_HUMAN||B9DI84_%7C_Q53EU3_%7C_Q5TA84_%7C_Q7RTX3_%7C_Q9H3X5|Q9NVE7|coenzyme_%20_A_%20_biosynthetic_%20_process_%20_(GO:0015937)|cytoplasm_%20_(GO:0005737)|ATP_%20_binding_%20_(GO:0005524)_%7C_pantothenate_%20_kinase_%20_activity_%20_(GO:0004594)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|PANK4:55229|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|141941464|2440415|false|true|0|true|0|true|0.998523_%2C_0.00147675|false|false|false|SNV|true|0x050300000305040426000100|1|false|134|rs141941464|] -chr1 2440415 exm5910 G A . PASS FUNCOTATION=[PANK4|hg19|chr1|2440415|2440415|SILENT||SNP|G|G|A|g.chr1:2440415G>A|ENST00000378466.3|-|19|2206|c.2193C>T|c.(2191-2193)caC>caT|p.H731H|0.6234413965087282|GGTAGTTTGTGTGGACAGCAC|PANK4_ENST00000435556.3_SILENT_p.H692H|||||||||||||||||||||||||276|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(22)_%7C_large_intestine(37)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_upper_aerodigestive_tract(121)|||||||CH471183|NM_018216.1|NP_060686.1|HGNC:19366|pantothenate_%20_kinase_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10782||1p36.32|2015-08-25|||AK001644||55229|ENSG00000157881|11479594||||CCDS42|OTTHUMG00000000791|55229|606162|NM_018216|Q9NVE7|ENSG00000157881|uc001ajm.3|PANK4_HUMAN||B9DI84_%7C_Q53EU3_%7C_Q5TA84_%7C_Q7RTX3_%7C_Q9H3X5|Q9NVE7|coenzyme_%20_A_%20_biosynthetic_%20_process_%20_(GO:0015937)|cytoplasm_%20_(GO:0005737)|ATP_%20_binding_%20_(GO:0005524)_%7C_pantothenate_%20_kinase_%20_activity_%20_(GO:0004594)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|PANK4:55229|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|141941464|2440415|false|true|0|true|0|true|0.998523_%2C_0.00147675|false|false|false|SNV|true|0x050300000305040426000100|1|false|134|rs141941464|] -chr1 2450733 indel.338 AG A . PASS FUNCOTATION=[PANK4|hg19|chr1|2450734|2450734|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:2450734delG|ENST00000378466.3|-|7|897|c.883delC|c.(883-885)ctgfs|p.L295fs|0.6059850374064838|ATGTGCAGCAGGCTCTTCGCC|PANK4_ENST00000435556.3_FRAME_SHIFT_DEL_p.L256fs|||||||||||||||||||||||||276|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(22)_%7C_large_intestine(37)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_upper_aerodigestive_tract(121)|||||||CH471183|NM_018216.1|NP_060686.1|HGNC:19366|pantothenate_%20_kinase_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10782||1p36.32|2015-08-25|||AK001644||55229|ENSG00000157881|11479594||||CCDS42|OTTHUMG00000000791|55229|606162|NM_018216|Q9NVE7|ENSG00000157881|uc001ajm.3|PANK4_HUMAN||B9DI84_%7C_Q53EU3_%7C_Q5TA84_%7C_Q7RTX3_%7C_Q9H3X5|Q9NVE7|coenzyme_%20_A_%20_biosynthetic_%20_process_%20_(GO:0015937)|cytoplasm_%20_(GO:0005737)|ATP_%20_binding_%20_(GO:0005524)_%7C_pantothenate_%20_kinase_%20_activity_%20_(GO:0004594)||||true|false||false|false|||false|false|false|PANK4:55229|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|764053138|2450734|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs764053138|] -chr1 2461316 exm2250972 C T . PASS FUNCOTATION=[HES5|hg19|chr1|2461316|2461316|SILENT||SNP|C|C|T|g.chr1:2461316C>T|ENST00000378453.3|-|2|270|c.189G>A|c.(187-189)gaG>gaA|p.E63E|0.7231920199501247|TGACAGCCATCTCCAGGATGT|PANK4_ENST00000378466.3_FIVE_PRIME_FLANK/PANK4_ENST00000435556.3_FIVE_PRIME_FLANK/PANK4_ENST00000491212.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||522|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(134)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||DQ272660|NM_001010926.3|NP_001010926.1|HGNC:19764|hes_%20_family_%20_bHLH_%20_transcription_%20_factor_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"hairy_%20_and_%20_enhancer_%20_of_%20_split_%20_5_%20_(Drosophila)"|bHLHb38||1p36.32|2016-10-05||2013-10-17|AL139246||388585|ENSG00000197921|7836401||420|Basic_%20_helix-loop-helix_%20_proteins|CCDS41233|OTTHUMG00000000793|388585|607348|NM_001010926|Q5TA89|ENSG00000197921|uc001ajn.3|HES5_HUMAN||B9DI85|Q5TA89|astrocyte_%20_differentiation_%20_(GO:0048708)_%7C_auditory_%20_receptor_%20_cell_%20_differentiation_%20_(GO:0042491)_%7C_auditory_%20_receptor_%20_cell_%20_fate_%20_determination_%20_(GO:0042668)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_cartilage_%20_development_%20_(GO:0051216)_%7C_cell_%20_adhesion_%20_(GO:0007155)_%7C_cell_%20_maturation_%20_(GO:0048469)_%7C_central_%20_nervous_%20_system_%20_myelination_%20_(GO:0022010)_%7C_comma-shaped_%20_body_%20_morphogenesis_%20_(GO:0072049)_%7C_forebrain_%20_radial_%20_glial_%20_cell_%20_differentiation_%20_(GO:0021861)_%7C_glial_%20_cell_%20_fate_%20_commitment_%20_(GO:0021781)_%7C_metanephric_%20_nephron_%20_tubule_%20_morphogenesis_%20_(GO:0072282)_%7C_negative_%20_regulation_%20_of_%20_astrocyte_%20_differentiation_%20_(GO:0048712)_%7C_negative_%20_regulation_%20_of_%20_forebrain_%20_neuron_%20_differentiation_%20_(GO:2000978)_%7C_negative_%20_regulation_%20_of_%20_inner_%20_ear_%20_receptor_%20_cell_%20_differentiation_%20_(GO:2000981)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_differentiation_%20_(GO:0045665)_%7C_negative_%20_regulation_%20_of_%20_oligodendrocyte_%20_differentiation_%20_(GO:0048715)_%7C_negative_%20_regulation_%20_of_%20_pro-B_%20_cell_%20_differentiation_%20_(GO:2000974)_%7C_negative_%20_regulation_%20_of_%20_stem_%20_cell_%20_differentiation_%20_(GO:2000737)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_neural_%20_tube_%20_development_%20_(GO:0021915)_%7C_neuronal_%20_stem_%20_cell_%20_maintenance_%20_(GO:0097150)_%7C_Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_oligodendrocyte_%20_development_%20_(GO:0014003)_%7C_positive_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030513)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_JAK-STAT_%20_cascade_%20_(GO:0046427)_%7C_positive_%20_regulation_%20_of_%20_Notch_%20_signaling_%20_pathway_%20_(GO:0045747)_%7C_positive_%20_regulation_%20_of_%20_smooth_%20_muscle_%20_cell_%20_proliferation_%20_(GO:0048661)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_positive_%20_regulation_%20_of_%20_tyrosine_%20_phosphorylation_%20_of_%20_Stat3_%20_protein_%20_(GO:0042517)_%7C_protein_%20_complex_%20_assembly_%20_(GO:0006461)_%7C_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045595)_%7C_regulation_%20_of_%20_myelination_%20_(GO:0031641)_%7C_regulation_%20_of_%20_neurogenesis_%20_(GO:0050767)_%7C_S-shaped_%20_body_%20_morphogenesis_%20_(GO:0072050)_%7C_smoothened_%20_signaling_%20_pathway_%20_(GO:0007224)_%7C_specification_%20_of_%20_loop_%20_of_%20_Henle_%20_identity_%20_(GO:0072086)_%7C_telencephalon_%20_development_%20_(GO:0021537)|nucleoplasm_%20_(GO:0005654)|chromatin_%20_binding_%20_(GO:0003682)_%7C_double-stranded_%20_DNA_%20_binding_%20_(GO:0003690)_%7C_RNA_%20_polymerase_%20_II_%20_core_%20_promoter_%20_proximal_%20_region_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_involved_%20_in_%20_negative_%20_regulation_%20_of_%20_transcription_%20_(GO:0001078)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2493130 exm2251018 G A . PASS FUNCOTATION=[TNFRSF14|hg19|chr1|2493130|2493130|SILENT||SNP|G|G|A|g.chr1:2493130G>A|ENST00000355716.4|+|6|869|c.570G>A|c.(568-570)acG>acA|p.T190T|0.6234413965087282|GGCTGGTGACGAAGGCCGGAG|TNFRSF14_ENST00000409119.1_THREE_PRIME_UTR/RP3-395M20.8_ENST00000416860.2_FIVE_PRIME_FLANK/RP3-395M20.8_ENST00000452793.1_FIVE_PRIME_FLANK/RP3-395M20.7_ENST00000456687.3_FIVE_PRIME_FLANK||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_14_%20_(herpesvirus_%20_entry_%20_mediator)"|8764|1|1p36.32|yes||follicular_%20_lymphoma|||L|Rec|"Mis_%2C__%20_N_%2C__%20_F"||||||||||||1645|NS(200)_%7C_biliary_tract(2)_%7C_bone(27)_%7C_breast(31)_%7C_central_nervous_system(61)_%7C_haematopoietic_and_lymphoid_tissue(659)_%7C_kidney(209)_%7C_large_intestine(11)_%7C_lung(84)_%7C_ovary(14)_%7C_pancreas(51)_%7C_salivary_gland(15)_%7C_soft_tissue(30)_%7C_stomach(121)_%7C_thymus(10)_%7C_upper_aerodigestive_tract(120)|||||||U81232|NM_003820.2|NP_003811.2|HGNC:11912|TNF_%20_receptor_%20_superfamily_%20_member_%20_14|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_14_%20_(herpesvirus_%20_entry_%20_mediator)"_%2C__%20_"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_14"|HVEM_%2C__%20_ATAR_%2C__%20_TR2_%2C__%20_LIGHTR_%2C__%20_HVEA_%2C__%20_CD270|"herpesvirus_%20_entry_%20_mediator"|1p36.32|2016-06-28||2016-06-28|U70321||8764|ENSG00000157873|8898196_%2C__%20_9162061||471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS44046|OTTHUMG00000000792|8764|602746|NM_001297605|Q92956|ENSG00000157873|uc001ajr.4|TNR14_HUMAN||B3KW30_%7C_B9DI89_%7C_Q6IB95_%7C_Q8N634_%7C_Q8WXR1_%7C_Q96J31_%7C_Q9UM65|Q92956|cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007166)_%7C_defense_%20_response_%20_to_%20_Gram-negative_%20_bacterium_%20_(GO:0050829)_%7C_defense_%20_response_%20_to_%20_Gram-positive_%20_bacterium_%20_(GO:0050830)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_negative_%20_regulation_%20_of_%20_alpha-beta_%20_T_%20_cell_%20_proliferation_%20_(GO:0046642)_%7C_positive_%20_regulation_%20_of_%20_cytokine_%20_secretion_%20_involved_%20_in_%20_immune_%20_response_%20_(GO:0002741)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050731)_%7C_positive_%20_regulation_%20_of_%20_T_%20_cell_%20_migration_%20_(GO:2000406)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)_%7C_viral_%20_process_%20_(GO:0016032)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_plasma_%20_membrane_%20_(GO:0005886)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_virus_%20_receptor_%20_activity_%20_(GO:0001618)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2513216 exm-rs734999 C T . PASS FUNCOTATION=[FAM213B|hg19|chr1|2513216|2513216|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:2513216C>T|ENST00000419916.2|+||||||0.48877805486284287|AAGAAAAGCACAACAGAGAAC|RP3-395M20.9_ENST00000424215.1_RNA|||||||||||||||||||||||||||||||||CH471183|NM_152371.3|NP_689584.2|HGNC:28390|family_%20_with_%20_sequence_%20_similarity_%20_213_%20_member_%20_B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf93|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_93"_%2C__%20_"family_%20_with_%20_sequence_%20_similarity_%20_213_%2C__%20_member_%20_B"|MGC26818|"prostamide/prostaglandin_%20_F_%20_synthase"_%2C__%20_"thioredoxin-type_%20_PGF_%20_synthase"|1p36.32|2017-08-18|2011-11-24|2015-11-18|AK075273|1.11.1.20|127281|ENSG00000157870|18006499_%2C__%20_20950588|NM_152371|||CCDS44_%2C__%20_CCDS55564_%2C__%20_CCDS72690_%2C__%20_CCDS72691|OTTHUMG00000000847|127281||NM_001195736|Q8TBF2|ENSG00000157870|uc001aju.4|PGFS_HUMAN||A8K793_%7C_B3KPY3_%7C_B4DQR9_%7C_B4E0S5_%7C_B7ZAC8_%7C_B9DI90_%7C_B9DI92_%7C_J3KQD0_%7C_Q8N2H0|Q8TBF2|arachidonic_%20_acid_%20_metabolic_%20_process_%20_(GO:0019369)_%7C_cyclooxygenase_%20_pathway_%20_(GO:0019371)_%7C_prostaglandin_%20_biosynthetic_%20_process_%20_(GO:0001516)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_myelin_%20_sheath_%20_(GO:0043209)|oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_the_%20_CH-OH_%20_group_%20_of_%20_donors_%2C__%20_NAD_%20_or_%20_NADP_%20_as_%20_acceptor_%20_(GO:0016616)_%7C_prostaglandin-F_%20_synthase_%20_activity_%20_(GO:0047017)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2519989 exm6175 G T . PASS FUNCOTATION=[FAM213B|hg19|chr1|2519989|2519989|SPLICE_SITE|MISSENSE|SNP|G|G|T|g.chr1:2519989G>T|ENST00000378424.4|+|5|545|c.529G>T|c.(529-531)Gcc>Tcc|p.A177S|0.6359102244389028|CTCCTGACAGGCCAAGGCTGT|FAM213B_ENST00000419916.2_SPLICE_SITE_p.A159S/FAM213B_ENST00000378425.5_SPLICE_SITE_p.A129S/FAM213B_ENST00000444521.2_SPLICE_SITE_p.A147S/FAM213B_ENST00000537325.1_INTRON/FAM213B_ENST00000484099.1_INTRON|||||||||||||||||||||||||||||||||AL139246|||HGNC:28390|family_%20_with_%20_sequence_%20_similarity_%20_213_%20_member_%20_B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf93|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_93"_%2C__%20_"family_%20_with_%20_sequence_%20_similarity_%20_213_%2C__%20_member_%20_B"|MGC26818|"prostamide/prostaglandin_%20_F_%20_synthase"_%2C__%20_"thioredoxin-type_%20_PGF_%20_synthase"|1p36.32|2017-08-18|2011-11-24|2015-11-18|AK075273|1.11.1.20|127281|ENSG00000157870|18006499_%2C__%20_20950588|NM_152371|||CCDS44_%2C__%20_CCDS55564_%2C__%20_CCDS72690_%2C__%20_CCDS72691|OTTHUMG00000000847|127281||NM_001195736|Q8TBF2|ENSG00000157870|uc001aju.4|PGFS_HUMAN||A8K793_%7C_B3KPY3_%7C_B4DQR9_%7C_B4E0S5_%7C_B7ZAC8_%7C_B9DI90_%7C_B9DI92_%7C_J3KQD0_%7C_Q8N2H0|Q8TBF2|arachidonic_%20_acid_%20_metabolic_%20_process_%20_(GO:0019369)_%7C_cyclooxygenase_%20_pathway_%20_(GO:0019371)_%7C_prostaglandin_%20_biosynthetic_%20_process_%20_(GO:0001516)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_myelin_%20_sheath_%20_(GO:0043209)|oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_the_%20_CH-OH_%20_group_%20_of_%20_donors_%2C__%20_NAD_%20_or_%20_NADP_%20_as_%20_acceptor_%20_(GO:0016616)_%7C_prostaglandin-F_%20_synthase_%20_activity_%20_(GO:0047017)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 2526245 exm6253 T A . PASS FUNCOTATION=[MMEL1|hg19|chr1|2526245|2526245|NONSENSE||SNP|T|T|A|g.chr1:2526245T>A|ENST00000378412.3|-|17|1834|c.1672A>T|c.(1672-1674)Aag>Tag|p.K558*|0.6483790523690773|GGGTCCACCTTTTCCCGAAGC|MMEL1_ENST00000502556.1_NONSENSE_p.K401*/MMEL1_ENST00000288709.6_NONSENSE_p.K549*|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|||HGNC:14668|membrane_%20_metalloendopeptidase_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MMEL2|"membrane_%20_metallo-endopeptidase-like_%20_2"|SEP_%2C__%20_NL1_%2C__%20_NL2_%2C__%20_NEPII||1p36.32|2016-10-05||2016-08-10|AF336981||79258|ENSG00000142606||NM_033467|1439|M13_%20_metallopeptidases|CCDS30569|OTTHUMG00000000846|79258||NM_033467|Q495T6|ENSG00000142606|uc001ajy.3|MMEL1_HUMAN||B9DI79_%7C_Q495T7_%7C_Q495T8_%7C_Q5SZS6_%7C_Q96PH9|Q495T6||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false||false|false|||false|false|false|MMEL1:79258|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|200758088|2526245|false|true|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050200000605040402000100|1|false|137|rs200758088|] -chr1 2530219 variant.359 C T . PASS FUNCOTATION=[MMEL1|hg19|chr1|2530219|2530219|NONSENSE||SNP|C|C|T|g.chr1:2530219C>T|ENST00000378412.3|-|12|1214|c.1052G>A|c.(1051-1053)tGg>tAg|p.W351*|0.49875311720698257|GAACAGAGTCCAGTTAAATCC|MMEL1_ENST00000502556.1_NONSENSE_p.W194*/MMEL1_ENST00000288709.6_NONSENSE_p.W342*|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|||HGNC:14668|membrane_%20_metalloendopeptidase_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MMEL2|"membrane_%20_metallo-endopeptidase-like_%20_2"|SEP_%2C__%20_NL1_%2C__%20_NL2_%2C__%20_NEPII||1p36.32|2016-10-05||2016-08-10|AF336981||79258|ENSG00000142606||NM_033467|1439|M13_%20_metallopeptidases|CCDS30569|OTTHUMG00000000846|79258||NM_033467|Q495T6|ENSG00000142606|uc001ajy.3|MMEL1_HUMAN||B9DI79_%7C_Q495T7_%7C_Q495T8_%7C_Q5SZS6_%7C_Q96PH9|Q495T6||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false||false|false|||false|false|false|MMEL1:79258|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|768914853|2530219|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000605000402000100|1|false|144|rs768914853|] -chr1 2541269 exm6351 A G . PASS FUNCOTATION=[MMEL1|hg19|chr1|2541269|2541269|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:2541269A>G|ENST00000378412.3|-|5|456|c.294T>C|c.(292-294)gcT>gcC|p.A98A|0.6184538653366584|GGATCCTGGCAGCTGCTCGTC|MMEL1_ENST00000502556.1_SPLICE_SITE_p.A98A/MMEL1_ENST00000288709.6_SPLICE_SITE_p.A89A|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|||HGNC:14668|membrane_%20_metalloendopeptidase_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MMEL2|"membrane_%20_metallo-endopeptidase-like_%20_2"|SEP_%2C__%20_NL1_%2C__%20_NL2_%2C__%20_NEPII||1p36.32|2016-10-05||2016-08-10|AF336981||79258|ENSG00000142606||NM_033467|1439|M13_%20_metallopeptidases|CCDS30569|OTTHUMG00000000846|79258||NM_033467|Q495T6|ENSG00000142606|uc001ajy.3|MMEL1_HUMAN||B9DI79_%7C_Q495T7_%7C_Q495T8_%7C_Q5SZS6_%7C_Q96PH9|Q495T6||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.4685_%2C_0.5315|false|false|1||false|true|true|MMEL1:79258|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|10797440|2541269|false|true|0|true|0|true|0.525414_%2C_0.474586|false|false|false|SNV|true|0x05030000030517053f000100|1|false|120|rs10797440|] -chr1 2541269 exm6351 A G . PASS FUNCOTATION=[MMEL1|hg19|chr1|2541269|2541269|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:2541269A>G|ENST00000378412.3|-|5|456|c.294T>C|c.(292-294)gcT>gcC|p.A98A|0.6184538653366584|GGATCCTGGCAGCTGCTCGTC|MMEL1_ENST00000502556.1_SPLICE_SITE_p.A98A/MMEL1_ENST00000288709.6_SPLICE_SITE_p.A89A|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|||HGNC:14668|membrane_%20_metalloendopeptidase_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MMEL2|"membrane_%20_metallo-endopeptidase-like_%20_2"|SEP_%2C__%20_NL1_%2C__%20_NL2_%2C__%20_NEPII||1p36.32|2016-10-05||2016-08-10|AF336981||79258|ENSG00000142606||NM_033467|1439|M13_%20_metallopeptidases|CCDS30569|OTTHUMG00000000846|79258||NM_033467|Q495T6|ENSG00000142606|uc001ajy.3|MMEL1_HUMAN||B9DI79_%7C_Q495T7_%7C_Q495T8_%7C_Q5SZS6_%7C_Q96PH9|Q495T6||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.4685_%2C_0.5315|false|false|1||false|true|true|MMEL1:79258|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|10797440|2541269|false|true|0|true|0|true|0.525414_%2C_0.474586|false|false|false|SNV|true|0x05030000030517053f000100|1|false|120|rs10797440|] -chr1 2542778 exm6352 C T . PASS FUNCOTATION=[MMEL1|hg19|chr1|2542778|2542778|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:2542778C>T|ENST00000378412.3|-|4|396|c.234G>A|c.(232-234)ggG>ggA|p.G78G|0.683291770573566|CCTCTGGGATCCCTGCGGGCA|MMEL1_ENST00000502556.1_SPLICE_SITE_p.G78G/MMEL1_ENST00000288709.6_SPLICE_SITE_p.G69G|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|||HGNC:14668|membrane_%20_metalloendopeptidase_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MMEL2|"membrane_%20_metallo-endopeptidase-like_%20_2"|SEP_%2C__%20_NL1_%2C__%20_NL2_%2C__%20_NEPII||1p36.32|2016-10-05||2016-08-10|AF336981||79258|ENSG00000142606||NM_033467|1439|M13_%20_metallopeptidases|CCDS30569|OTTHUMG00000000846|79258||NM_033467|Q495T6|ENSG00000142606|uc001ajy.3|MMEL1_HUMAN||B9DI79_%7C_Q495T7_%7C_Q495T8_%7C_Q5SZS6_%7C_Q96PH9|Q495T6||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false||false|false|||false|false|false|MMEL1:79258|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201188524|2542778|false|false|0|false|0|true|0.999931_%2C_6.8686e-005|false|false|false|SNV|false|0x050000000305000402000100|1|false|137|rs201188524|] -chr1 2542778 exm6352 C T . PASS FUNCOTATION=[MMEL1|hg19|chr1|2542778|2542778|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:2542778C>T|ENST00000378412.3|-|4|396|c.234G>A|c.(232-234)ggG>ggA|p.G78G|0.683291770573566|CCTCTGGGATCCCTGCGGGCA|MMEL1_ENST00000502556.1_SPLICE_SITE_p.G78G/MMEL1_ENST00000288709.6_SPLICE_SITE_p.G69G|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|||HGNC:14668|membrane_%20_metalloendopeptidase_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MMEL2|"membrane_%20_metallo-endopeptidase-like_%20_2"|SEP_%2C__%20_NL1_%2C__%20_NL2_%2C__%20_NEPII||1p36.32|2016-10-05||2016-08-10|AF336981||79258|ENSG00000142606||NM_033467|1439|M13_%20_metallopeptidases|CCDS30569|OTTHUMG00000000846|79258||NM_033467|Q495T6|ENSG00000142606|uc001ajy.3|MMEL1_HUMAN||B9DI79_%7C_Q495T7_%7C_Q495T8_%7C_Q5SZS6_%7C_Q96PH9|Q495T6||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false||false|false|||false|false|false|MMEL1:79258|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201188524|2542778|false|false|0|false|0|true|0.999931_%2C_6.8686e-005|false|false|false|SNV|false|0x050000000305000402000100|1|false|137|rs201188524|] -chr1 2564465 kgp10938344 T C . PASS FUNCOTATION=[MMEL1|hg19|chr1|2564465|2564465|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:2564465T>C|ENST00000288709.6|-|1|||||0.6458852867830424|TGAAGGCTTCTGGGCCTCCTT|MMEL1_ENST00000378412.3_FIVE_PRIME_FLANK/MMEL1_ENST00000502556.1_FIVE_PRIME_FLANK/RP13-436F16.1_ENST00000427302.1_RNA/MMEL1_ENST00000511099.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_033467.3|NP_258428.2|HGNC:14668|membrane_%20_metalloendopeptidase_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MMEL2|"membrane_%20_metallo-endopeptidase-like_%20_2"|SEP_%2C__%20_NL1_%2C__%20_NL2_%2C__%20_NEPII||1p36.32|2016-10-05||2016-08-10|AF336981||79258|ENSG00000142606||NM_033467|1439|M13_%20_metallopeptidases|CCDS30569|OTTHUMG00000000846|79258||NM_033467|Q495T6|ENSG00000142606|uc001ajy.3|MMEL1_HUMAN||B9DI79_%7C_Q495T7_%7C_Q495T8_%7C_Q5SZS6_%7C_Q96PH9|Q495T6||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.4824_%2C_0.5176|false|false|1||false|true|true|MMEL1:79258|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|12752515|2564465|false|false|0|true|0|false|0.403943_%2C_0.596057|false|false|true|SNV|true|0x050100400a0517053e000100|1|false|121|rs12752515|] -chr1 2938265 rs4576609 C T . PASS FUNCOTATION=[ACTRT2|hg19|chr1|2938265|2938265|SILENT||SNP|C|C|T|g.chr1:2938265C>T|ENST00000378404.2|+|1|220|c.15C>T|c.(13-15)caC>caT|p.H5H|0.6059850374064838|TTAATCCGCACGCTTTAGACT||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471248|NM_080431.4|NP_536356.3|HGNC:24026|actin_%20_related_%20_protein_%20_T2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Arp-T2_%2C__%20_ARPM2_%2C__%20_FLJ25424||1p36.32|2016-10-05||2015-12-01|AF440740_%2C__%20_AB057364||140625|ENSG00000169717|11750065_%2C__%20_12243744|NM_080431|1436|Actin_%20_related_%20_proteins|CCDS45|OTTHUMG00000000562|140625|608535|NM_080431|Q8TDY3|ENSG00000169717|uc001ajz.4|ACTT2_HUMAN||B1AN52_%7C_Q8NHS6_%7C_Q8TDG1|Q8TDY3||cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)|||||true|false|0.7983_%2C_._%2C_0.2017|false|false|1||false|true|true|ACTRT2:140625|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|4576609|2938265|false|false|0|true|0|true|0.836974_%2C_3.4343e-005_%2C_0.162992|false|false|false|SNV|true|0x05010000030517053e000100|1|false|111|rs4576609|] -chr1 2939409 rs12564513 G T . PASS FUNCOTATION=[ACTRT2|hg19|chr1|2939409|2939409|THREE_PRIME_UTR||SNP|G|G|T|g.chr1:2939409G>T|ENST00000378404.2|+|1|||||0.5935162094763092|TGGGTACCGTGGGGGGTGAAC||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471248|NM_080431.4|NP_536356.3|HGNC:24026|actin_%20_related_%20_protein_%20_T2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Arp-T2_%2C__%20_ARPM2_%2C__%20_FLJ25424||1p36.32|2016-10-05||2015-12-01|AF440740_%2C__%20_AB057364||140625|ENSG00000169717|11750065_%2C__%20_12243744|NM_080431|1436|Actin_%20_related_%20_proteins|CCDS45|OTTHUMG00000000562|140625|608535|NM_080431|Q8TDY3|ENSG00000169717|uc001ajz.4|ACTT2_HUMAN||B1AN52_%7C_Q8NHS6_%7C_Q8TDG1|Q8TDY3||cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)|||||true|false|0.9215_%2C_0.0003994_%2C_._%2C_0.07808|false|false|1||false|true|false|ACTRT2:140625|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|12564513|2939409|false|false|0|true|0|false|0.964764_%2C_._%2C_3.4343e-005_%2C_0.0352016|false|true|false|SNV|true|0x050100800005150537000100|1|false|120|rs12564513|] -chr1 2983674 psy_rs75412307 T G . PASS FUNCOTATION=[PRDM16|hg19|chr1|2983674|2983674|FIVE_PRIME_FLANK||SNP|T|T|G|g.chr1:2983674T>G|ENST00000270722.5|+||||||0.6184538653366584|GGCGAGCAGGTTCAGAACCGG|PRDM16_ENST00000378391.2_FIVE_PRIME_FLANK/PRDM16_ENST00000378398.3_FIVE_PRIME_FLANK/PRDM16_ENST00000441472.2_FIVE_PRIME_FLANK/PRDM16_ENST00000442529.2_FIVE_PRIME_FLANK/PRDM16_ENST00000511072.1_FIVE_PRIME_FLANK/PRDM16_ENST00000514189.1_FIVE_PRIME_FLANK/LINC00982_ENST00000445317.1_RNA/LINC00982_ENST00000321336.1_RNA/LINC00982_ENST00000321399.3_FIVE_PRIME_FLANK/LINC00982_ENST00000415573.1_FIVE_PRIME_FLANK/LINC00982_ENST00000606861.1_FIVE_PRIME_FLANK||PR_%20_domain_%20_containing_%20_16|63976|1|1p36.23-p33|yes||"MDS_%2C__%20_AML"|||L|Dom|T|EVI1|||||||||||792|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_kidney(180)_%7C_large_intestine(70)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(1)_%7C_upper_aerodigestive_tract(28)|||||||BC161614|||HGNC:14000|PR/SET_%20_domain_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_16"_%2C__%20_"PR_%20_domain_%20_16"|MEL1_%2C__%20_PFM13_%2C__%20_KIAA1675_%2C__%20_MGC166915_%2C__%20_KMT8F|"MDS1/EVI1-like"_%2C__%20_"PR-domain_%20_zinc_%20_finger_%20_protein_%20_16"_%2C__%20_"transcription_%20_factor_%20_MEL1"|1p36.32|2016-11-03||2016-07-18|AF294278||63976|ENSG00000142611|11050005_%2C__%20_27151440|NM_022114|487_%7C_1197_%7C_28|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS41236_%2C__%20_CCDS44048|OTTHUMG00000000581|63976|605557|NM_022114|Q9HAZ2|ENSG00000142611|uc001akf.4|PRD16_HUMAN||A6NHQ8_%7C_B1AJP7_%7C_B1AJP8_%7C_B1AJP9_%7C_B1WB48_%7C_Q8WYJ9_%7C_Q9C0I8|Q9HAZ2|brown_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050873)_%7C_negative_%20_regulation_%20_of_%20_granulocyte_%20_differentiation_%20_(GO:0030853)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neurogenesis_%20_(GO:0022008)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_regulation_%20_of_%20_cellular_%20_respiration_%20_(GO:0043457)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_tongue_%20_development_%20_(GO:0043586)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_white_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050872)|nucleus_%20_(GO:0005634)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3301715 chr1_3301715 G C . PASS FUNCOTATION=[PRDM16|hg19|chr1|3301715|3301715|SPLICE_SITE|INTRON|SNP|G|G|C|g.chr1:3301715G>C|ENST00000270722.5|+|||c.e4-1G>C|c.e4-1||0.6159600997506235|CCTCCCAGCAGATCTCCGAAG|PRDM16_ENST00000511072.1_MISSENSE_p.Q147H/PRDM16_ENST00000514189.1_MISSENSE_p.Q147H/PRDM16_ENST00000378391.2_SPLICE_SITE/PRDM16_ENST00000441472.2_SPLICE_SITE/PRDM16_ENST00000442529.2_SPLICE_SITE/PRDM16_ENST00000378398.3_SPLICE_SITE/PRDM16_ENST00000512462.1_SPLICE_SITE||PR_%20_domain_%20_containing_%20_16|63976|1|1p36.23-p33|yes||"MDS_%2C__%20_AML"|||L|Dom|T|EVI1|||||||||||792|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_kidney(180)_%7C_large_intestine(70)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(1)_%7C_upper_aerodigestive_tract(28)|||||||BC161614|||HGNC:14000|PR/SET_%20_domain_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_16"_%2C__%20_"PR_%20_domain_%20_16"|MEL1_%2C__%20_PFM13_%2C__%20_KIAA1675_%2C__%20_MGC166915_%2C__%20_KMT8F|"MDS1/EVI1-like"_%2C__%20_"PR-domain_%20_zinc_%20_finger_%20_protein_%20_16"_%2C__%20_"transcription_%20_factor_%20_MEL1"|1p36.32|2016-11-03||2016-07-18|AF294278||63976|ENSG00000142611|11050005_%2C__%20_27151440|NM_022114|487_%7C_1197_%7C_28|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS41236_%2C__%20_CCDS44048|OTTHUMG00000000581|63976|605557|NM_022114|Q9HAZ2|ENSG00000142611|uc001akf.4|PRD16_HUMAN||A6NHQ8_%7C_B1AJP7_%7C_B1AJP8_%7C_B1AJP9_%7C_B1WB48_%7C_Q8WYJ9_%7C_Q9C0I8|Q9HAZ2|brown_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050873)_%7C_negative_%20_regulation_%20_of_%20_granulocyte_%20_differentiation_%20_(GO:0030853)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neurogenesis_%20_(GO:0022008)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_regulation_%20_of_%20_cellular_%20_respiration_%20_(GO:0043457)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_tongue_%20_development_%20_(GO:0043586)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_white_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050872)|nucleus_%20_(GO:0005634)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3327949 exm6524 T C . PASS FUNCOTATION=[PRDM16|hg19|chr1|3327949|3327949|SPLICE_SITE|SILENT|SNP|T|T|C|g.chr1:3327949T>C|ENST00000270722.5|+|9|1237|c.1188T>C|c.(1186-1188)tgT>tgC|p.C396C|0.5785536159600998|ATGTTTTAGGTGAGGTCTGCC|PRDM16_ENST00000378391.2_SPLICE_SITE_p.C396C/PRDM16_ENST00000511072.1_SPLICE_SITE_p.C397C/PRDM16_ENST00000514189.1_SPLICE_SITE_p.C397C/PRDM16_ENST00000441472.2_SPLICE_SITE_p.C396C/PRDM16_ENST00000442529.2_SPLICE_SITE_p.C396C/PRDM16_ENST00000378398.3_SPLICE_SITE_p.C397C/PRDM16_ENST00000512462.1_SPLICE_SITE||PR_%20_domain_%20_containing_%20_16|63976|1|1p36.23-p33|yes||"MDS_%2C__%20_AML"|||L|Dom|T|EVI1|||||||||||792|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_kidney(180)_%7C_large_intestine(70)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(1)_%7C_upper_aerodigestive_tract(28)|||||||BC161614|||HGNC:14000|PR/SET_%20_domain_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_16"_%2C__%20_"PR_%20_domain_%20_16"|MEL1_%2C__%20_PFM13_%2C__%20_KIAA1675_%2C__%20_MGC166915_%2C__%20_KMT8F|"MDS1/EVI1-like"_%2C__%20_"PR-domain_%20_zinc_%20_finger_%20_protein_%20_16"_%2C__%20_"transcription_%20_factor_%20_MEL1"|1p36.32|2016-11-03||2016-07-18|AF294278||63976|ENSG00000142611|11050005_%2C__%20_27151440|NM_022114|487_%7C_1197_%7C_28|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS41236_%2C__%20_CCDS44048|OTTHUMG00000000581|63976|605557|NM_022114|Q9HAZ2|ENSG00000142611|uc001akf.4|PRD16_HUMAN||A6NHQ8_%7C_B1AJP7_%7C_B1AJP8_%7C_B1AJP9_%7C_B1WB48_%7C_Q8WYJ9_%7C_Q9C0I8|Q9HAZ2|brown_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050873)_%7C_negative_%20_regulation_%20_of_%20_granulocyte_%20_differentiation_%20_(GO:0030853)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neurogenesis_%20_(GO:0022008)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_regulation_%20_of_%20_cellular_%20_respiration_%20_(GO:0043457)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_tongue_%20_development_%20_(GO:0043586)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_white_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050872)|nucleus_%20_(GO:0005634)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3327949 exm6524 T C . PASS FUNCOTATION=[PRDM16|hg19|chr1|3327949|3327949|SPLICE_SITE|SILENT|SNP|T|T|C|g.chr1:3327949T>C|ENST00000270722.5|+|9|1237|c.1188T>C|c.(1186-1188)tgT>tgC|p.C396C|0.5785536159600998|ATGTTTTAGGTGAGGTCTGCC|PRDM16_ENST00000378391.2_SPLICE_SITE_p.C396C/PRDM16_ENST00000511072.1_SPLICE_SITE_p.C397C/PRDM16_ENST00000514189.1_SPLICE_SITE_p.C397C/PRDM16_ENST00000441472.2_SPLICE_SITE_p.C396C/PRDM16_ENST00000442529.2_SPLICE_SITE_p.C396C/PRDM16_ENST00000378398.3_SPLICE_SITE_p.C397C/PRDM16_ENST00000512462.1_SPLICE_SITE||PR_%20_domain_%20_containing_%20_16|63976|1|1p36.23-p33|yes||"MDS_%2C__%20_AML"|||L|Dom|T|EVI1|||||||||||792|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_kidney(180)_%7C_large_intestine(70)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(1)_%7C_upper_aerodigestive_tract(28)|||||||BC161614|||HGNC:14000|PR/SET_%20_domain_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_16"_%2C__%20_"PR_%20_domain_%20_16"|MEL1_%2C__%20_PFM13_%2C__%20_KIAA1675_%2C__%20_MGC166915_%2C__%20_KMT8F|"MDS1/EVI1-like"_%2C__%20_"PR-domain_%20_zinc_%20_finger_%20_protein_%20_16"_%2C__%20_"transcription_%20_factor_%20_MEL1"|1p36.32|2016-11-03||2016-07-18|AF294278||63976|ENSG00000142611|11050005_%2C__%20_27151440|NM_022114|487_%7C_1197_%7C_28|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS41236_%2C__%20_CCDS44048|OTTHUMG00000000581|63976|605557|NM_022114|Q9HAZ2|ENSG00000142611|uc001akf.4|PRD16_HUMAN||A6NHQ8_%7C_B1AJP7_%7C_B1AJP8_%7C_B1AJP9_%7C_B1WB48_%7C_Q8WYJ9_%7C_Q9C0I8|Q9HAZ2|brown_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050873)_%7C_negative_%20_regulation_%20_of_%20_granulocyte_%20_differentiation_%20_(GO:0030853)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neurogenesis_%20_(GO:0022008)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_regulation_%20_of_%20_cellular_%20_respiration_%20_(GO:0043457)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_tongue_%20_development_%20_(GO:0043586)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_white_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050872)|nucleus_%20_(GO:0005634)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3331193 exm2251405 G A . PASS FUNCOTATION=[PRDM16|hg19|chr1|3331193|3331193|SILENT||SNP|G|G|A|g.chr1:3331193G>A|ENST00000270722.5|+|10|2722|c.2673G>A|c.(2671-2673)ccG>ccA|p.P891P|0.6608478802992519|GGCCGTCCCCGCTGCTCTTCC|PRDM16_ENST00000378391.2_SILENT_p.P891P/PRDM16_ENST00000511072.1_SILENT_p.P892P/PRDM16_ENST00000514189.1_SILENT_p.P891P/PRDM16_ENST00000441472.2_SILENT_p.P890P/PRDM16_ENST00000442529.2_SILENT_p.P890P/PRDM16_ENST00000378398.3_SILENT_p.P891P/PRDM16_ENST00000512462.1_INTRON||PR_%20_domain_%20_containing_%20_16|63976|1|1p36.23-p33|yes||"MDS_%2C__%20_AML"|||L|Dom|T|EVI1|||||||||||792|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_kidney(180)_%7C_large_intestine(70)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(1)_%7C_upper_aerodigestive_tract(28)|||||||BC161614|||HGNC:14000|PR/SET_%20_domain_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_16"_%2C__%20_"PR_%20_domain_%20_16"|MEL1_%2C__%20_PFM13_%2C__%20_KIAA1675_%2C__%20_MGC166915_%2C__%20_KMT8F|"MDS1/EVI1-like"_%2C__%20_"PR-domain_%20_zinc_%20_finger_%20_protein_%20_16"_%2C__%20_"transcription_%20_factor_%20_MEL1"|1p36.32|2016-11-03||2016-07-18|AF294278||63976|ENSG00000142611|11050005_%2C__%20_27151440|NM_022114|487_%7C_1197_%7C_28|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS41236_%2C__%20_CCDS44048|OTTHUMG00000000581|63976|605557|NM_022114|Q9HAZ2|ENSG00000142611|uc001akf.4|PRD16_HUMAN||A6NHQ8_%7C_B1AJP7_%7C_B1AJP8_%7C_B1AJP9_%7C_B1WB48_%7C_Q8WYJ9_%7C_Q9C0I8|Q9HAZ2|brown_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050873)_%7C_negative_%20_regulation_%20_of_%20_granulocyte_%20_differentiation_%20_(GO:0030853)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neurogenesis_%20_(GO:0022008)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_regulation_%20_of_%20_cellular_%20_respiration_%20_(GO:0043457)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_tongue_%20_development_%20_(GO:0043586)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_white_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050872)|nucleus_%20_(GO:0005634)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3342788 exm6674 C T . PASS FUNCOTATION=[PRDM16|hg19|chr1|3342788|3342788|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:3342788C>T|ENST00000270722.5|+|14|3332|c.3283C>T|c.(3283-3285)Cgg>Tgg|p.R1095W|0.5985037406483791|AACAGAGAAACGGTAAGAAAA|PRDM16_ENST00000378391.2_SPLICE_SITE_p.R1095W/PRDM16_ENST00000511072.1_SPLICE_SITE_p.R1096W/PRDM16_ENST00000514189.1_SPLICE_SITE_p.R1095W/PRDM16_ENST00000441472.2_SPLICE_SITE_p.R1094W/PRDM16_ENST00000442529.2_SPLICE_SITE_p.R1094W/PRDM16_ENST00000378398.3_SPLICE_SITE_p.R1095W/PRDM16_ENST00000512462.1_SPLICE_SITE||PR_%20_domain_%20_containing_%20_16|63976|1|1p36.23-p33|yes||"MDS_%2C__%20_AML"|||L|Dom|T|EVI1|||||||||||792|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_kidney(180)_%7C_large_intestine(70)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(1)_%7C_upper_aerodigestive_tract(28)|||||||BC161614|||HGNC:14000|PR/SET_%20_domain_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_16"_%2C__%20_"PR_%20_domain_%20_16"|MEL1_%2C__%20_PFM13_%2C__%20_KIAA1675_%2C__%20_MGC166915_%2C__%20_KMT8F|"MDS1/EVI1-like"_%2C__%20_"PR-domain_%20_zinc_%20_finger_%20_protein_%20_16"_%2C__%20_"transcription_%20_factor_%20_MEL1"|1p36.32|2016-11-03||2016-07-18|AF294278||63976|ENSG00000142611|11050005_%2C__%20_27151440|NM_022114|487_%7C_1197_%7C_28|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS41236_%2C__%20_CCDS44048|OTTHUMG00000000581|63976|605557|NM_022114|Q9HAZ2|ENSG00000142611|uc001akf.4|PRD16_HUMAN||A6NHQ8_%7C_B1AJP7_%7C_B1AJP8_%7C_B1AJP9_%7C_B1WB48_%7C_Q8WYJ9_%7C_Q9C0I8|Q9HAZ2|brown_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050873)_%7C_negative_%20_regulation_%20_of_%20_granulocyte_%20_differentiation_%20_(GO:0030853)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neurogenesis_%20_(GO:0022008)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_regulation_%20_of_%20_cellular_%20_respiration_%20_(GO:0043457)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_tongue_%20_development_%20_(GO:0043586)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_white_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050872)|nucleus_%20_(GO:0005634)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3352227 rs1537406 T C . PASS FUNCOTATION=[PRDM16|hg19|chr1|3352227|3352227|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:3352227T>C|ENST00000270722.5|+|17|||||0.47880299251870323|TTGTGTCACGTGTGGACATCT|PRDM16_ENST00000441472.2_THREE_PRIME_UTR/PRDM16_ENST00000442529.2_THREE_PRIME_UTR/PRDM16_ENST00000378398.3_THREE_PRIME_UTR||PR_%20_domain_%20_containing_%20_16|63976|1|1p36.23-p33|yes||"MDS_%2C__%20_AML"|||L|Dom|T|EVI1|||||||||||792|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_kidney(180)_%7C_large_intestine(70)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(1)_%7C_upper_aerodigestive_tract(28)|||||||BC161614|||HGNC:14000|PR/SET_%20_domain_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_16"_%2C__%20_"PR_%20_domain_%20_16"|MEL1_%2C__%20_PFM13_%2C__%20_KIAA1675_%2C__%20_MGC166915_%2C__%20_KMT8F|"MDS1/EVI1-like"_%2C__%20_"PR-domain_%20_zinc_%20_finger_%20_protein_%20_16"_%2C__%20_"transcription_%20_factor_%20_MEL1"|1p36.32|2016-11-03||2016-07-18|AF294278||63976|ENSG00000142611|11050005_%2C__%20_27151440|NM_022114|487_%7C_1197_%7C_28|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS41236_%2C__%20_CCDS44048|OTTHUMG00000000581|63976|605557|NM_022114|Q9HAZ2|ENSG00000142611|uc001akf.4|PRD16_HUMAN||A6NHQ8_%7C_B1AJP7_%7C_B1AJP8_%7C_B1AJP9_%7C_B1WB48_%7C_Q8WYJ9_%7C_Q9C0I8|Q9HAZ2|brown_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050873)_%7C_negative_%20_regulation_%20_of_%20_granulocyte_%20_differentiation_%20_(GO:0030853)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neurogenesis_%20_(GO:0022008)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_regulation_%20_of_%20_cellular_%20_respiration_%20_(GO:0043457)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_tongue_%20_development_%20_(GO:0043586)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_white_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050872)|nucleus_%20_(GO:0005634)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3395176 exm6806 C T . PASS FUNCOTATION=[ARHGEF16|hg19|chr1|3395176|3395176|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:3395176C>T|ENST00000378378.4|+|12|2219|c.1814C>T|c.(1813-1815)gCg>gTg|p.A605V|0.6309226932668329|TCGGACTCCGCGTAAGTGGGC|ARHGEF16_ENST00000378371.2_SPLICE_SITE_p.A317V/ARHGEF16_ENST00000378373.1_SPLICE_SITE_p.A317V/ARHGEF16_ENST00000413250.2_SPLICE_SITE_p.A309V|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||D89016|NM_014448.3|NP_055263.2|HGNC:15515|Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factor_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factor_%20_(GEF)_%20_16"|NBR_%2C__%20_GEF16|"putative_%20_neuroblastoma_%20_protein"|1p36.32|2016-10-05||2015-11-09|D89016||27237|ENSG00000130762||NM_014448|722_%7C_682|Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factors_%7C_Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS46|OTTHUMG00000000625|27237||NM_014448|Q5VV41|ENSG00000130762|uc001akg.5|ARHGG_HUMAN||Q86TF0_%7C_Q99434|Q5VV41|activation_%20_of_%20_Cdc42_%20_GTPase_%20_activity_%20_(GO:0032864)_%7C_activation_%20_of_%20_Rac_%20_GTPase_%20_activity_%20_(GO:0032863)_%7C_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097190)_%7C_cell_%20_chemotaxis_%20_(GO:0060326)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_establishment_%20_of_%20_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0090004)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cytosol_%20_(GO:0005829)|PDZ_%20_domain_%20_binding_%20_(GO:0030165)_%7C_receptor_%20_tyrosine_%20_kinase_%20_binding_%20_(GO:0030971)_%7C_Rho_%20_GTPase_%20_binding_%20_(GO:0017048)_%7C_Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3396465 exm6818 C T . PASS FUNCOTATION=[ARHGEF16|hg19|chr1|3396465|3396465|NONSENSE||SNP|C|C|T|g.chr1:3396465C>T|ENST00000378378.4|+|14|2383|c.1978C>T|c.(1978-1980)Cag>Tag|p.Q660*|0.6458852867830424|CCTGGTTCTGCAGCAGGAGGA|ARHGEF16_ENST00000378371.2_NONSENSE_p.Q372*/ARHGEF16_ENST00000378373.1_NONSENSE_p.Q372*/ARHGEF16_ENST00000413250.2_NONSENSE_p.Q364*|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||D89016|NM_014448.3|NP_055263.2|HGNC:15515|Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factor_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factor_%20_(GEF)_%20_16"|NBR_%2C__%20_GEF16|"putative_%20_neuroblastoma_%20_protein"|1p36.32|2016-10-05||2015-11-09|D89016||27237|ENSG00000130762||NM_014448|722_%7C_682|Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factors_%7C_Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS46|OTTHUMG00000000625|27237||NM_014448|Q5VV41|ENSG00000130762|uc001akg.5|ARHGG_HUMAN||Q86TF0_%7C_Q99434|Q5VV41|activation_%20_of_%20_Cdc42_%20_GTPase_%20_activity_%20_(GO:0032864)_%7C_activation_%20_of_%20_Rac_%20_GTPase_%20_activity_%20_(GO:0032863)_%7C_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097190)_%7C_cell_%20_chemotaxis_%20_(GO:0060326)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_establishment_%20_of_%20_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0090004)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cytosol_%20_(GO:0005829)|PDZ_%20_domain_%20_binding_%20_(GO:0030165)_%7C_receptor_%20_tyrosine_%20_kinase_%20_binding_%20_(GO:0030971)_%7C_Rho_%20_GTPase_%20_binding_%20_(GO:0017048)_%7C_Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3410935 exm6858 G A . PASS FUNCOTATION=[MEGF6|hg19|chr1|3410935|3410935|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:3410935G>A|ENST00000356575.4|-|32|4356|c.4129C>T|c.(4129-4131)Ccc>Tcc|p.P1377S|0.6783042394014963|CCCAACTCACGGTGCTCGCAG|MEGF6_ENST00000294599.4_SPLICE_SITE_p.R1142W|Ovarian(73_%3B_978_%20_3658)||||||||||||||||||||||||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(11)|||||||AL513320|NM_001409.3|NP_001400.3|HGNC:3232|multiple_%20_EGF_%20_like_%20_domains_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EGFL3|"EGF-like-domain_%2C__%20_multiple_%20_3"_%2C__%20_"multiple_%20_EGF-like-domains_%20_6"|||1p36.32|2016-10-05|2006-03-31|2016-01-21|AB011539||1953|ENSG00000162591|9693030|NM_001409|||CCDS41237|OTTHUMG00000000611|1953|604266|NM_001409|O75095|ENSG00000162591|uc001akl.4|MEGF6_HUMAN||Q4AC86_%7C_Q5VV39|O75095||extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3410942 exm2251433 G A . PASS FUNCOTATION=[MEGF6|hg19|chr1|3410942|3410942|SILENT||SNP|G|G|A|g.chr1:3410942G>A|ENST00000356575.4|-|32|4349|c.4122C>T|c.(4120-4122)tgC>tgT|p.C1374C|0.683291770573566|CACGGTGCTCGCAGGCCTGGC|MEGF6_ENST00000294599.4_SILENT_p.C1139C|Ovarian(73_%3B_978_%20_3658)||||||||||||||||||||||||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(11)|||||||AL513320|NM_001409.3|NP_001400.3|HGNC:3232|multiple_%20_EGF_%20_like_%20_domains_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EGFL3|"EGF-like-domain_%2C__%20_multiple_%20_3"_%2C__%20_"multiple_%20_EGF-like-domains_%20_6"|||1p36.32|2016-10-05|2006-03-31|2016-01-21|AB011539||1953|ENSG00000162591|9693030|NM_001409|||CCDS41237|OTTHUMG00000000611|1953|604266|NM_001409|O75095|ENSG00000162591|uc001akl.4|MEGF6_HUMAN||Q4AC86_%7C_Q5VV39|O75095||extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3413684 exm1796486 C A . PASS FUNCOTATION=[MEGF6|hg19|chr1|3413684|3413684|SPLICE_SITE|INTRON|SNP|C|C|A|g.chr1:3413684C>A|ENST00000356575.4|-|||c.e28+1G>T|c.e28-1||0.7107231920199502|GGTGGGCAGGCTGGGTGGAGA|MEGF6_ENST00000294599.4_INTRON|Ovarian(73_%3B_978_%20_3658)||||||||||||||||||||||||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(11)|||||||AL513320|NM_001409.3|NP_001400.3|HGNC:3232|multiple_%20_EGF_%20_like_%20_domains_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EGFL3|"EGF-like-domain_%2C__%20_multiple_%20_3"_%2C__%20_"multiple_%20_EGF-like-domains_%20_6"|||1p36.32|2016-10-05|2006-03-31|2016-01-21|AB011539||1953|ENSG00000162591|9693030|NM_001409|||CCDS41237|OTTHUMG00000000611|1953|604266|NM_001409|O75095|ENSG00000162591|uc001akl.4|MEGF6_HUMAN||Q4AC86_%7C_Q5VV39|O75095||extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3415712 exm2251438 G A . PASS FUNCOTATION=[MEGF6|hg19|chr1|3415712|3415712|SILENT||SNP|G|G|A|g.chr1:3415712G>A|ENST00000356575.4|-|24|3311|c.3084C>T|c.(3082-3084)tcC>tcT|p.S1028S|0.6683291770573566|CCTGCAGGCAGGAGGGCCCCA|MEGF6_ENST00000294599.4_INTRON|Ovarian(73_%3B_978_%20_3658)||||||||||||||||||||||||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(11)|||||||AL513320|NM_001409.3|NP_001400.3|HGNC:3232|multiple_%20_EGF_%20_like_%20_domains_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EGFL3|"EGF-like-domain_%2C__%20_multiple_%20_3"_%2C__%20_"multiple_%20_EGF-like-domains_%20_6"|||1p36.32|2016-10-05|2006-03-31|2016-01-21|AB011539||1953|ENSG00000162591|9693030|NM_001409|||CCDS41237|OTTHUMG00000000611|1953|604266|NM_001409|O75095|ENSG00000162591|uc001akl.4|MEGF6_HUMAN||Q4AC86_%7C_Q5VV39|O75095||extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3417742 exm6965 G A . PASS FUNCOTATION=[MEGF6|hg19|chr1|3417742|3417742|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:3417742G>A|ENST00000356575.4|-|19|2672|c.2445C>T|c.(2443-2445)gaC>gaT|p.D815D|0.6583541147132169|CTCACTCACCGTCCTGGCAGC|MEGF6_ENST00000294599.4_SPLICE_SITE_p.D710D|Ovarian(73_%3B_978_%20_3658)||||||||||||||||||||||||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(11)|||||||AL513320|NM_001409.3|NP_001400.3|HGNC:3232|multiple_%20_EGF_%20_like_%20_domains_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EGFL3|"EGF-like-domain_%2C__%20_multiple_%20_3"_%2C__%20_"multiple_%20_EGF-like-domains_%20_6"|||1p36.32|2016-10-05|2006-03-31|2016-01-21|AB011539||1953|ENSG00000162591|9693030|NM_001409|||CCDS41237|OTTHUMG00000000611|1953|604266|NM_001409|O75095|ENSG00000162591|uc001akl.4|MEGF6_HUMAN||Q4AC86_%7C_Q5VV39|O75095||extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3417742 exm6965 G A . PASS FUNCOTATION=[MEGF6|hg19|chr1|3417742|3417742|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:3417742G>A|ENST00000356575.4|-|19|2672|c.2445C>T|c.(2443-2445)gaC>gaT|p.D815D|0.6583541147132169|CTCACTCACCGTCCTGGCAGC|MEGF6_ENST00000294599.4_SPLICE_SITE_p.D710D|Ovarian(73_%3B_978_%20_3658)||||||||||||||||||||||||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(11)|||||||AL513320|NM_001409.3|NP_001400.3|HGNC:3232|multiple_%20_EGF_%20_like_%20_domains_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EGFL3|"EGF-like-domain_%2C__%20_multiple_%20_3"_%2C__%20_"multiple_%20_EGF-like-domains_%20_6"|||1p36.32|2016-10-05|2006-03-31|2016-01-21|AB011539||1953|ENSG00000162591|9693030|NM_001409|||CCDS41237|OTTHUMG00000000611|1953|604266|NM_001409|O75095|ENSG00000162591|uc001akl.4|MEGF6_HUMAN||Q4AC86_%7C_Q5VV39|O75095||extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3417747 exm6966 G A . PASS FUNCOTATION=[MEGF6|hg19|chr1|3417747|3417747|NONSENSE||SNP|G|G|A|g.chr1:3417747G>A|ENST00000356575.4|-|19|2667|c.2440C>T|c.(2440-2442)Cag>Tag|p.Q814*|0.6633416458852868|TCACCGTCCTGGCAGCGGCTG|MEGF6_ENST00000294599.4_NONSENSE_p.Q709*|Ovarian(73_%3B_978_%20_3658)||||||||||||||||||||||||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(11)|||||||AL513320|NM_001409.3|NP_001400.3|HGNC:3232|multiple_%20_EGF_%20_like_%20_domains_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EGFL3|"EGF-like-domain_%2C__%20_multiple_%20_3"_%2C__%20_"multiple_%20_EGF-like-domains_%20_6"|||1p36.32|2016-10-05|2006-03-31|2016-01-21|AB011539||1953|ENSG00000162591|9693030|NM_001409|||CCDS41237|OTTHUMG00000000611|1953|604266|NM_001409|O75095|ENSG00000162591|uc001akl.4|MEGF6_HUMAN||Q4AC86_%7C_Q5VV39|O75095||extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3431235 exm7112 A C . PASS FUNCOTATION=[MEGF6|hg19|chr1|3431235|3431235|SPLICE_SITE|SILENT|SNP|A|A|C|g.chr1:3431235A>C|ENST00000356575.4|-|7|959|c.732T>G|c.(730-732)cgT>cgG|p.R244R|0.683291770573566|ACGGGCTTCTACCTGCAGCCA|MEGF6_ENST00000294599.4_SPLICE_SITE_p.R139R|Ovarian(73_%3B_978_%20_3658)||||||||||||||||||||||||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(11)|||||||AL513320|NM_001409.3|NP_001400.3|HGNC:3232|multiple_%20_EGF_%20_like_%20_domains_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EGFL3|"EGF-like-domain_%2C__%20_multiple_%20_3"_%2C__%20_"multiple_%20_EGF-like-domains_%20_6"|||1p36.32|2016-10-05|2006-03-31|2016-01-21|AB011539||1953|ENSG00000162591|9693030|NM_001409|||CCDS41237|OTTHUMG00000000611|1953|604266|NM_001409|O75095|ENSG00000162591|uc001akl.4|MEGF6_HUMAN||Q4AC86_%7C_Q5VV39|O75095||extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3431235 exm7112 A C . PASS FUNCOTATION=[MEGF6|hg19|chr1|3431235|3431235|SPLICE_SITE|SILENT|SNP|A|A|C|g.chr1:3431235A>C|ENST00000356575.4|-|7|959|c.732T>G|c.(730-732)cgT>cgG|p.R244R|0.683291770573566|ACGGGCTTCTACCTGCAGCCA|MEGF6_ENST00000294599.4_SPLICE_SITE_p.R139R|Ovarian(73_%3B_978_%20_3658)||||||||||||||||||||||||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(11)|||||||AL513320|NM_001409.3|NP_001400.3|HGNC:3232|multiple_%20_EGF_%20_like_%20_domains_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EGFL3|"EGF-like-domain_%2C__%20_multiple_%20_3"_%2C__%20_"multiple_%20_EGF-like-domains_%20_6"|||1p36.32|2016-10-05|2006-03-31|2016-01-21|AB011539||1953|ENSG00000162591|9693030|NM_001409|||CCDS41237|OTTHUMG00000000611|1953|604266|NM_001409|O75095|ENSG00000162591|uc001akl.4|MEGF6_HUMAN||Q4AC86_%7C_Q5VV39|O75095||extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3440796 exm7131 G A . PASS FUNCOTATION=[MEGF6|hg19|chr1|3440796|3440796|NONSENSE||SNP|G|G|A|g.chr1:3440796G>A|ENST00000356575.4|-|5|723|c.496C>T|c.(496-498)Cga>Tga|p.R166*|0.6608478802992519|TTGTGGGTTCGGCATTCGTCC|MEGF6_ENST00000294599.4_NONSENSE_p.R61*|Ovarian(73_%3B_978_%20_3658)||||||||||||||||||||||||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(11)|||||||AL513320|NM_001409.3|NP_001400.3|HGNC:3232|multiple_%20_EGF_%20_like_%20_domains_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EGFL3|"EGF-like-domain_%2C__%20_multiple_%20_3"_%2C__%20_"multiple_%20_EGF-like-domains_%20_6"|||1p36.32|2016-10-05|2006-03-31|2016-01-21|AB011539||1953|ENSG00000162591|9693030|NM_001409|||CCDS41237|OTTHUMG00000000611|1953|604266|NM_001409|O75095|ENSG00000162591|uc001akl.4|MEGF6_HUMAN||Q4AC86_%7C_Q5VV39|O75095||extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3540024 rs12757620 T G . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3540024|3540024|FIVE_PRIME_FLANK||SNP|T|T|G|g.chr1:3540024T>G|ENST00000344579.5|+||||||0.5835411471321695|CAGGTCTTGCTGGGCGTGCCA|TPRG1L_ENST00000378344.2_FIVE_PRIME_FLANK/RP11-46F15.2_ENST00000435049.1_RNA|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC019034|||HGNC:27007|tumor_%20_protein_%20_p63_%20_regulated_%20_1_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FAM79A|"family_%20_with_%20_sequence_%20_similarity_%20_79_%2C__%20_member_%20_A"|RP11-46F15.3_%2C__%20_FLJ21811||1p36.32|2016-07-27|2008-01-16|2016-07-27|BC019034||127262|ENSG00000158109|12477932|NM_182752|||CCDS47|OTTHUMG00000000609|127262|611460|NM_182752|Q5T0D9|ENSG00000158109|uc001akm.4|TPRGL_HUMAN||A8K1K4_%7C_Q8WV04|Q5T0D9||cell_%20_junction_%20_(GO:0030054)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_synaptic_%20_vesicle_%20_(GO:0008021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3542385 indel.400 GA G . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3542386|3542386|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:3542386delA|ENST00000378344.2|+|3|473|c.403delA|c.(403-405)atafs|p.I135fs|0.5486284289276808|GGTGGTGCGGATAGCGCTCAA|TPRG1L_ENST00000344579.5_INTRON/RP11-46F15.2_ENST00000435049.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC019034|NM_182752.3|NP_877429.2|HGNC:27007|tumor_%20_protein_%20_p63_%20_regulated_%20_1_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FAM79A|"family_%20_with_%20_sequence_%20_similarity_%20_79_%2C__%20_member_%20_A"|RP11-46F15.3_%2C__%20_FLJ21811||1p36.32|2016-07-27|2008-01-16|2016-07-27|BC019034||127262|ENSG00000158109|12477932|NM_182752|||CCDS47|OTTHUMG00000000609|127262|611460|NM_182752|Q5T0D9|ENSG00000158109|uc001akm.4|TPRGL_HUMAN||A8K1K4_%7C_Q8WV04|Q5T0D9||cell_%20_junction_%20_(GO:0030054)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_synaptic_%20_vesicle_%20_(GO:0008021)|||||true|false||false|false|||false|false|false|TPRG1L:127262|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|749859577|3542386|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|144|rs749859577|] -chr1 3542422 newrs148462952 G T . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3542422|3542422|NONSENSE||SNP|G|G|T|g.chr1:3542422G>T|ENST00000378344.2|+|3|510|c.439G>T|c.(439-441)Gaa>Taa|p.E147*|0.5087281795511222|TTCCTACGGAGAATTCCAGTT|TPRG1L_ENST00000344579.5_INTRON/RP11-46F15.2_ENST00000435049.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC019034|NM_182752.3|NP_877429.2|HGNC:27007|tumor_%20_protein_%20_p63_%20_regulated_%20_1_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FAM79A|"family_%20_with_%20_sequence_%20_similarity_%20_79_%2C__%20_member_%20_A"|RP11-46F15.3_%2C__%20_FLJ21811||1p36.32|2016-07-27|2008-01-16|2016-07-27|BC019034||127262|ENSG00000158109|12477932|NM_182752|||CCDS47|OTTHUMG00000000609|127262|611460|NM_182752|Q5T0D9|ENSG00000158109|uc001akm.4|TPRGL_HUMAN||A8K1K4_%7C_Q8WV04|Q5T0D9||cell_%20_junction_%20_(GO:0030054)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_synaptic_%20_vesicle_%20_(GO:0008021)|||||true|false||false|false|||false|false|false|TPRG1L:127262|false|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|148462952|3542422|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000080605040002000100|1|false|134|rs148462952|] -chr1 3544065 variant.403 C T . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3544065|3544065|SPLICE_SITE|NONSENSE|SNP|C|C|T|g.chr1:3544065C>T|ENST00000378344.2|+|4|543|c.472C>T|c.(472-474)Cga>Tga|p.R158*|0.4389027431421446|ACTTTTCAGGCGAGAAGGTTT|TPRG1L_ENST00000344579.5_SPLICE_SITE_p.R99*/RP11-46F15.2_ENST00000435049.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC019034|NM_182752.3|NP_877429.2|HGNC:27007|tumor_%20_protein_%20_p63_%20_regulated_%20_1_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FAM79A|"family_%20_with_%20_sequence_%20_similarity_%20_79_%2C__%20_member_%20_A"|RP11-46F15.3_%2C__%20_FLJ21811||1p36.32|2016-07-27|2008-01-16|2016-07-27|BC019034||127262|ENSG00000158109|12477932|NM_182752|||CCDS47|OTTHUMG00000000609|127262|611460|NM_182752|Q5T0D9|ENSG00000158109|uc001akm.4|TPRGL_HUMAN||A8K1K4_%7C_Q8WV04|Q5T0D9||cell_%20_junction_%20_(GO:0030054)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_synaptic_%20_vesicle_%20_(GO:0008021)|||||true|false||false|false|||false|false|false|TPRG1L:127262|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|370133742|3544065|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000605000402000100|1|false|138|rs370133742|] -chr1 3544065 variant.403 C T . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3544065|3544065|SPLICE_SITE|NONSENSE|SNP|C|C|T|g.chr1:3544065C>T|ENST00000378344.2|+|4|543|c.472C>T|c.(472-474)Cga>Tga|p.R158*|0.4389027431421446|ACTTTTCAGGCGAGAAGGTTT|TPRG1L_ENST00000344579.5_SPLICE_SITE_p.R99*/RP11-46F15.2_ENST00000435049.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC019034|NM_182752.3|NP_877429.2|HGNC:27007|tumor_%20_protein_%20_p63_%20_regulated_%20_1_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FAM79A|"family_%20_with_%20_sequence_%20_similarity_%20_79_%2C__%20_member_%20_A"|RP11-46F15.3_%2C__%20_FLJ21811||1p36.32|2016-07-27|2008-01-16|2016-07-27|BC019034||127262|ENSG00000158109|12477932|NM_182752|||CCDS47|OTTHUMG00000000609|127262|611460|NM_182752|Q5T0D9|ENSG00000158109|uc001akm.4|TPRGL_HUMAN||A8K1K4_%7C_Q8WV04|Q5T0D9||cell_%20_junction_%20_(GO:0030054)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_synaptic_%20_vesicle_%20_(GO:0008021)|||||true|false||false|false|||false|false|false|TPRG1L:127262|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|370133742|3544065|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000605000402000100|1|false|138|rs370133742|] -chr1 3544995 variant.405 T G . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3544995|3544995|NONSENSE||SNP|T|T|G|g.chr1:3544995T>G|ENST00000378344.2|+|5|718|c.647T>G|c.(646-648)tTa>tGa|p.L216*|0.49625935162094764|AAGGCTCTGTTAATCCAAGCT|TPRG1L_ENST00000344579.5_NONSENSE_p.L157*/RP11-46F15.2_ENST00000435049.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC019034|NM_182752.3|NP_877429.2|HGNC:27007|tumor_%20_protein_%20_p63_%20_regulated_%20_1_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FAM79A|"family_%20_with_%20_sequence_%20_similarity_%20_79_%2C__%20_member_%20_A"|RP11-46F15.3_%2C__%20_FLJ21811||1p36.32|2016-07-27|2008-01-16|2016-07-27|BC019034||127262|ENSG00000158109|12477932|NM_182752|||CCDS47|OTTHUMG00000000609|127262|611460|NM_182752|Q5T0D9|ENSG00000158109|uc001akm.4|TPRGL_HUMAN||A8K1K4_%7C_Q8WV04|Q5T0D9||cell_%20_junction_%20_(GO:0030054)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_synaptic_%20_vesicle_%20_(GO:0008021)|||||true|false||false|false|||false|false|false|TPRG1L:127262|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|750555620|3544995|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000605040402000100|1|false|144|rs750555620|] -chr1 3545612 rs1128474 A G . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3545612|3545612|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:3545612A>G|ENST00000378344.2|+|5|||||0.4937655860349127|AGTTGCAAGTATGTTTACACC|TPRG1L_ENST00000344579.5_THREE_PRIME_UTR/RP11-46F15.2_ENST00000435049.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC019034|NM_182752.3|NP_877429.2|HGNC:27007|tumor_%20_protein_%20_p63_%20_regulated_%20_1_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FAM79A|"family_%20_with_%20_sequence_%20_similarity_%20_79_%2C__%20_member_%20_A"|RP11-46F15.3_%2C__%20_FLJ21811||1p36.32|2016-07-27|2008-01-16|2016-07-27|BC019034||127262|ENSG00000158109|12477932|NM_182752|||CCDS47|OTTHUMG00000000609|127262|611460|NM_182752|Q5T0D9|ENSG00000158109|uc001akm.4|TPRGL_HUMAN||A8K1K4_%7C_Q8WV04|Q5T0D9||cell_%20_junction_%20_(GO:0030054)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_synaptic_%20_vesicle_%20_(GO:0008021)|||||true|false|0.7949_%2C_0.2051|false|false|1||false|true|false|TPRG1L:127262|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|1128474|3545612|false|false|0|true|0|false|0.832853_%2C_0.167147|false|true|false|SNV|true|0x050100800005150537000100|1|false|86|rs1128474|] -chr1 3648066 exm7419 T C . PASS FUNCOTATION=[TP73|hg19|chr1|3648066|3648066|SILENT||SNP|T|T|C|g.chr1:3648066T>C|ENST00000378295.4|+|13|1679|c.1524T>C|c.(1522-1524)taT>taC|p.Y508Y|0.5885286783042394|GCATCGAGTATTTCACCTCCC|TP73_ENST00000378280.1_MISSENSE_p.F410L/TP73_ENST00000378288.4_SILENT_p.Y459Y/TP73_ENST00000378290.4_SILENT_p.Y437Y/TP73_ENST00000604479.1_SILENT_p.Y412Y/TP73_ENST00000604074.1_INTRON/TP73_ENST00000354437.4_INTRON/TP73_ENST00000378285.1_INTRON/TP73_ENST00000603362.1_INTRON/TP73_ENST00000346387.4_SILENT_p.Y412Y/TP73_ENST00000357733.3_INTRON|||||||||||||||||||||||||680|biliary_tract(2)_%7C_breast(47)_%7C_central_nervous_system(61)_%7C_haematopoietic_and_lymphoid_tissue(177)_%7C_kidney(112)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)_%7C_skin(33)_%7C_soft_tissue(24)_%7C_upper_aerodigestive_tract(1)|||||||Y11416|NM_005427.3|NP_005418.1|HGNC:12003|tumor_%20_protein_%20_p73|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||P73||1p36.32|2017-07-07|||AB055065||7161|ENSG00000078900|9296498_%2C__%20_9288759|NM_005427|||CCDS49_%2C__%20_CCDS44049_%2C__%20_CCDS44050_%2C__%20_CCDS44051_%2C__%20_CCDS55566_%2C__%20_CCDS55567_%2C__%20_CCDS55568_%2C__%20_CCDS55569_%2C__%20_CCDS59965|OTTHUMG00000000610|7161|601990|NM_001126240|O15350|ENSG00000078900|uc001akp.4|P73_HUMAN||B7Z7J4_%7C_B7Z8Z1_%7C_B7Z9C1_%7C_C9J521_%7C_O15351_%7C_Q17RN8_%7C_Q5TBV5_%7C_Q5TBV6_%7C_Q8NHW9_%7C_Q8TDY5_%7C_Q8TDY6_%7C_Q9NTK8|O15350|activation_%20_of_%20_MAPK_%20_activity_%20_(GO:0000187)_%7C_cell_%20_cycle_%20_arrest_%20_(GO:0007050)_%7C_cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_cerebrospinal_%20_fluid_%20_secretion_%20_(GO:0033326)_%7C_digestive_%20_tract_%20_morphogenesis_%20_(GO:0048546)_%7C_DNA_%20_damage_%20_response_%2C__%20_signal_%20_transduction_%20_by_%20_p53_%20_class_%20_mediator_%20_resulting_%20_in_%20_transcription_%20_of_%20_p21_%20_class_%20_mediator_%20_(GO:0006978)_%7C_hippocampus_%20_development_%20_(GO:0021766)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_(GO:0008630)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_by_%20_p53_%20_class_%20_mediator_%20_(GO:0042771)_%7C_kidney_%20_development_%20_(GO:0001822)_%7C_mismatch_%20_repair_%20_(GO:0006298)_%7C_mitotic_%20_G1_%20_DNA_%20_damage_%20_checkpoint_%20_(GO:0031571)_%7C_negative_%20_regulation_%20_of_%20_JUN_%20_kinase_%20_activity_%20_(GO:0043508)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_differentiation_%20_(GO:0045665)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_neuron_%20_development_%20_(GO:0048666)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_size_%20_(GO:0045793)_%7C_positive_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_by_%20_p53_%20_class_%20_mediator_%20_(GO:1902167)_%7C_positive_%20_regulation_%20_of_%20_oligodendrocyte_%20_differentiation_%20_(GO:0048714)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_post-embryonic_%20_development_%20_(GO:0009791)_%7C_protein_%20_tetramerization_%20_(GO:0051262)_%7C_release_%20_of_%20_cytochrome_%20_c_%20_from_%20_mitochondria_%20_(GO:0001836)_%7C_response_%20_to_%20_gamma_%20_radiation_%20_(GO:0010332)_%7C_response_%20_to_%20_organonitrogen_%20_compound_%20_(GO:0010243)_%7C_response_%20_to_%20_X-ray_%20_(GO:0010165)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|chromatin_%20_(GO:0000785)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)|chromatin_%20_binding_%20_(GO:0003682)_%7C_damaged_%20_DNA_%20_binding_%20_(GO:0003684)_%7C_double-stranded_%20_DNA_%20_binding_%20_(GO:0003690)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_p53_%20_binding_%20_(GO:0002039)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)_%7C_transcription_%20_regulatory_%20_region_%20_DNA_%20_binding_%20_(GO:0044212)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3649562 rs9662633 G A . PASS FUNCOTATION=[TP73|hg19|chr1|3649562|3649562|SILENT||SNP|G|G|A|g.chr1:3649562G>A|ENST00000378295.4|+|14|1985|c.1830G>A|c.(1828-1830)gcG>gcA|p.A610A|0.685785536159601|ACGAGTGGGCGGACTTCGGCT|TP73_ENST00000378288.4_SILENT_p.A561A/TP73_ENST00000378290.4_SILENT_p.A539A/TP73_ENST00000603362.1_SILENT_p.A529A/TP73_ENST00000604479.1_SILENT_p.A514A/TP73_ENST00000604074.1_THREE_PRIME_UTR/TP73_ENST00000354437.4_THREE_PRIME_UTR/TP73_ENST00000378285.1_THREE_PRIME_UTR/TP73_ENST00000378280.1_THREE_PRIME_UTR/TP73_ENST00000357733.3_SILENT_p.A529A/TP73_ENST00000346387.4_SILENT_p.A514A|||||||||||||||||||||||||680|biliary_tract(2)_%7C_breast(47)_%7C_central_nervous_system(61)_%7C_haematopoietic_and_lymphoid_tissue(177)_%7C_kidney(112)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)_%7C_skin(33)_%7C_soft_tissue(24)_%7C_upper_aerodigestive_tract(1)|||||||Y11416|NM_005427.3|NP_005418.1|HGNC:12003|tumor_%20_protein_%20_p73|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||P73||1p36.32|2017-07-07|||AB055065||7161|ENSG00000078900|9296498_%2C__%20_9288759|NM_005427|||CCDS49_%2C__%20_CCDS44049_%2C__%20_CCDS44050_%2C__%20_CCDS44051_%2C__%20_CCDS55566_%2C__%20_CCDS55567_%2C__%20_CCDS55568_%2C__%20_CCDS55569_%2C__%20_CCDS59965|OTTHUMG00000000610|7161|601990|NM_001126240|O15350|ENSG00000078900|uc001akp.4|P73_HUMAN||B7Z7J4_%7C_B7Z8Z1_%7C_B7Z9C1_%7C_C9J521_%7C_O15351_%7C_Q17RN8_%7C_Q5TBV5_%7C_Q5TBV6_%7C_Q8NHW9_%7C_Q8TDY5_%7C_Q8TDY6_%7C_Q9NTK8|O15350|activation_%20_of_%20_MAPK_%20_activity_%20_(GO:0000187)_%7C_cell_%20_cycle_%20_arrest_%20_(GO:0007050)_%7C_cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_cerebrospinal_%20_fluid_%20_secretion_%20_(GO:0033326)_%7C_digestive_%20_tract_%20_morphogenesis_%20_(GO:0048546)_%7C_DNA_%20_damage_%20_response_%2C__%20_signal_%20_transduction_%20_by_%20_p53_%20_class_%20_mediator_%20_resulting_%20_in_%20_transcription_%20_of_%20_p21_%20_class_%20_mediator_%20_(GO:0006978)_%7C_hippocampus_%20_development_%20_(GO:0021766)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_(GO:0008630)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_by_%20_p53_%20_class_%20_mediator_%20_(GO:0042771)_%7C_kidney_%20_development_%20_(GO:0001822)_%7C_mismatch_%20_repair_%20_(GO:0006298)_%7C_mitotic_%20_G1_%20_DNA_%20_damage_%20_checkpoint_%20_(GO:0031571)_%7C_negative_%20_regulation_%20_of_%20_JUN_%20_kinase_%20_activity_%20_(GO:0043508)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_differentiation_%20_(GO:0045665)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_neuron_%20_development_%20_(GO:0048666)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_size_%20_(GO:0045793)_%7C_positive_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_by_%20_p53_%20_class_%20_mediator_%20_(GO:1902167)_%7C_positive_%20_regulation_%20_of_%20_oligodendrocyte_%20_differentiation_%20_(GO:0048714)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_post-embryonic_%20_development_%20_(GO:0009791)_%7C_protein_%20_tetramerization_%20_(GO:0051262)_%7C_release_%20_of_%20_cytochrome_%20_c_%20_from_%20_mitochondria_%20_(GO:0001836)_%7C_response_%20_to_%20_gamma_%20_radiation_%20_(GO:0010332)_%7C_response_%20_to_%20_organonitrogen_%20_compound_%20_(GO:0010243)_%7C_response_%20_to_%20_X-ray_%20_(GO:0010165)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|chromatin_%20_(GO:0000785)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)|chromatin_%20_binding_%20_(GO:0003682)_%7C_damaged_%20_DNA_%20_binding_%20_(GO:0003684)_%7C_double-stranded_%20_DNA_%20_binding_%20_(GO:0003690)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_p53_%20_binding_%20_(GO:0002039)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)_%7C_transcription_%20_regulatory_%20_region_%20_DNA_%20_binding_%20_(GO:0044212)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3651031 rs12562437 C T . PASS FUNCOTATION=[TP73|hg19|chr1|3651031|3651031|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:3651031C>T|ENST00000378295.4|+|14|||||0.6384039900249376|CCCTCACCCACGCAAGCCGAG|TP73_ENST00000378288.4_THREE_PRIME_UTR/TP73_ENST00000604074.1_THREE_PRIME_UTR|||||||||||||||||||||||||680|biliary_tract(2)_%7C_breast(47)_%7C_central_nervous_system(61)_%7C_haematopoietic_and_lymphoid_tissue(177)_%7C_kidney(112)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)_%7C_skin(33)_%7C_soft_tissue(24)_%7C_upper_aerodigestive_tract(1)|||||||Y11416|NM_005427.3|NP_005418.1|HGNC:12003|tumor_%20_protein_%20_p73|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||P73||1p36.32|2017-07-07|||AB055065||7161|ENSG00000078900|9296498_%2C__%20_9288759|NM_005427|||CCDS49_%2C__%20_CCDS44049_%2C__%20_CCDS44050_%2C__%20_CCDS44051_%2C__%20_CCDS55566_%2C__%20_CCDS55567_%2C__%20_CCDS55568_%2C__%20_CCDS55569_%2C__%20_CCDS59965|OTTHUMG00000000610|7161|601990|NM_001126240|O15350|ENSG00000078900|uc001akp.4|P73_HUMAN||B7Z7J4_%7C_B7Z8Z1_%7C_B7Z9C1_%7C_C9J521_%7C_O15351_%7C_Q17RN8_%7C_Q5TBV5_%7C_Q5TBV6_%7C_Q8NHW9_%7C_Q8TDY5_%7C_Q8TDY6_%7C_Q9NTK8|O15350|activation_%20_of_%20_MAPK_%20_activity_%20_(GO:0000187)_%7C_cell_%20_cycle_%20_arrest_%20_(GO:0007050)_%7C_cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_cerebrospinal_%20_fluid_%20_secretion_%20_(GO:0033326)_%7C_digestive_%20_tract_%20_morphogenesis_%20_(GO:0048546)_%7C_DNA_%20_damage_%20_response_%2C__%20_signal_%20_transduction_%20_by_%20_p53_%20_class_%20_mediator_%20_resulting_%20_in_%20_transcription_%20_of_%20_p21_%20_class_%20_mediator_%20_(GO:0006978)_%7C_hippocampus_%20_development_%20_(GO:0021766)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_(GO:0008630)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_by_%20_p53_%20_class_%20_mediator_%20_(GO:0042771)_%7C_kidney_%20_development_%20_(GO:0001822)_%7C_mismatch_%20_repair_%20_(GO:0006298)_%7C_mitotic_%20_G1_%20_DNA_%20_damage_%20_checkpoint_%20_(GO:0031571)_%7C_negative_%20_regulation_%20_of_%20_JUN_%20_kinase_%20_activity_%20_(GO:0043508)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_differentiation_%20_(GO:0045665)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_neuron_%20_development_%20_(GO:0048666)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_size_%20_(GO:0045793)_%7C_positive_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_by_%20_p53_%20_class_%20_mediator_%20_(GO:1902167)_%7C_positive_%20_regulation_%20_of_%20_oligodendrocyte_%20_differentiation_%20_(GO:0048714)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_post-embryonic_%20_development_%20_(GO:0009791)_%7C_protein_%20_tetramerization_%20_(GO:0051262)_%7C_release_%20_of_%20_cytochrome_%20_c_%20_from_%20_mitochondria_%20_(GO:0001836)_%7C_response_%20_to_%20_gamma_%20_radiation_%20_(GO:0010332)_%7C_response_%20_to_%20_organonitrogen_%20_compound_%20_(GO:0010243)_%7C_response_%20_to_%20_X-ray_%20_(GO:0010165)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|chromatin_%20_(GO:0000785)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)|chromatin_%20_binding_%20_(GO:0003682)_%7C_damaged_%20_DNA_%20_binding_%20_(GO:0003684)_%7C_double-stranded_%20_DNA_%20_binding_%20_(GO:0003690)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_p53_%20_binding_%20_(GO:0002039)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)_%7C_transcription_%20_regulatory_%20_region_%20_DNA_%20_binding_%20_(GO:0044212)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3651409 rs10910018 G A . PASS FUNCOTATION=[TP73|hg19|chr1|3651409|3651409|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:3651409G>A|ENST00000378295.4|+|14|||||0.6408977556109726|GGGGCTGTCGGCTCTCAGGGG|TP73_ENST00000378288.4_THREE_PRIME_UTR/TP73_ENST00000604074.1_THREE_PRIME_UTR|||||||||||||||||||||||||680|biliary_tract(2)_%7C_breast(47)_%7C_central_nervous_system(61)_%7C_haematopoietic_and_lymphoid_tissue(177)_%7C_kidney(112)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)_%7C_skin(33)_%7C_soft_tissue(24)_%7C_upper_aerodigestive_tract(1)|||||||Y11416|NM_005427.3|NP_005418.1|HGNC:12003|tumor_%20_protein_%20_p73|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||P73||1p36.32|2017-07-07|||AB055065||7161|ENSG00000078900|9296498_%2C__%20_9288759|NM_005427|||CCDS49_%2C__%20_CCDS44049_%2C__%20_CCDS44050_%2C__%20_CCDS44051_%2C__%20_CCDS55566_%2C__%20_CCDS55567_%2C__%20_CCDS55568_%2C__%20_CCDS55569_%2C__%20_CCDS59965|OTTHUMG00000000610|7161|601990|NM_001126240|O15350|ENSG00000078900|uc001akp.4|P73_HUMAN||B7Z7J4_%7C_B7Z8Z1_%7C_B7Z9C1_%7C_C9J521_%7C_O15351_%7C_Q17RN8_%7C_Q5TBV5_%7C_Q5TBV6_%7C_Q8NHW9_%7C_Q8TDY5_%7C_Q8TDY6_%7C_Q9NTK8|O15350|activation_%20_of_%20_MAPK_%20_activity_%20_(GO:0000187)_%7C_cell_%20_cycle_%20_arrest_%20_(GO:0007050)_%7C_cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_cerebrospinal_%20_fluid_%20_secretion_%20_(GO:0033326)_%7C_digestive_%20_tract_%20_morphogenesis_%20_(GO:0048546)_%7C_DNA_%20_damage_%20_response_%2C__%20_signal_%20_transduction_%20_by_%20_p53_%20_class_%20_mediator_%20_resulting_%20_in_%20_transcription_%20_of_%20_p21_%20_class_%20_mediator_%20_(GO:0006978)_%7C_hippocampus_%20_development_%20_(GO:0021766)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_(GO:0008630)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_by_%20_p53_%20_class_%20_mediator_%20_(GO:0042771)_%7C_kidney_%20_development_%20_(GO:0001822)_%7C_mismatch_%20_repair_%20_(GO:0006298)_%7C_mitotic_%20_G1_%20_DNA_%20_damage_%20_checkpoint_%20_(GO:0031571)_%7C_negative_%20_regulation_%20_of_%20_JUN_%20_kinase_%20_activity_%20_(GO:0043508)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_differentiation_%20_(GO:0045665)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_neuron_%20_development_%20_(GO:0048666)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_size_%20_(GO:0045793)_%7C_positive_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_by_%20_p53_%20_class_%20_mediator_%20_(GO:1902167)_%7C_positive_%20_regulation_%20_of_%20_oligodendrocyte_%20_differentiation_%20_(GO:0048714)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_post-embryonic_%20_development_%20_(GO:0009791)_%7C_protein_%20_tetramerization_%20_(GO:0051262)_%7C_release_%20_of_%20_cytochrome_%20_c_%20_from_%20_mitochondria_%20_(GO:0001836)_%7C_response_%20_to_%20_gamma_%20_radiation_%20_(GO:0010332)_%7C_response_%20_to_%20_organonitrogen_%20_compound_%20_(GO:0010243)_%7C_response_%20_to_%20_X-ray_%20_(GO:0010165)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|chromatin_%20_(GO:0000785)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)|chromatin_%20_binding_%20_(GO:0003682)_%7C_damaged_%20_DNA_%20_binding_%20_(GO:0003684)_%7C_double-stranded_%20_DNA_%20_binding_%20_(GO:0003690)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_p53_%20_binding_%20_(GO:0002039)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)_%7C_transcription_%20_regulatory_%20_region_%20_DNA_%20_binding_%20_(GO:0044212)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3657759 rs12117836 G A . PASS FUNCOTATION=[TP73-AS1|hg19|chr1|3657759|3657759|RNA||SNP|G|G|A|g.chr1:3657759G>A|ENST00000452079.1|-|||c.e4+808C>T|||0.5037406483790524|CAAAAGGACCGGAGGCCTTTG|TP73-AS1_ENST00000418088.1_RNA/TP73-AS1_ENST00000423764.1_RNA/TP73-AS1_ENST00000587071.1_RNA/TP73-AS1_ENST00000608600.1_RNA/TP73-AS1_ENST00000419973.1_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||HGNC:29052|TP73_%20_antisense_%20_RNA_%20_1|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|KIAA0495|"KIAA0495"|PDAM|"p53-dependent_%20_apoptosis_%20_modulator"|1p36.32|2017-04-28|2014-01-20|2014-01-20|||57212|ENSG00000227372|20477830_%2C__%20_23726844_%2C__%20_28403886|NR_033708|788|Long_%20_non-coding_%20_RNAs_%20_(published)||OTTHUMG00000003414|57212||NR_033708|Q9UF72|ENSG00000227372|uc009vlm.4|T73AS_HUMAN|||Q9UF72||extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3659657 rs2298222 G A . PASS FUNCOTATION=[TP73-AS1|hg19|chr1|3659657|3659657|RNA||SNP|G|G|A|g.chr1:3659657G>A|ENST00000452079.1|-|||c.e2+32C>T|||0.5810473815461347|AGAGGCCGCCGGGAACAGGCA|TP73-AS1_ENST00000418088.1_RNA/TP73-AS1_ENST00000423764.1_RNA/TP73-AS1_ENST00000608600.1_RNA/TP73-AS1_ENST00000587071.1_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||HGNC:29052|TP73_%20_antisense_%20_RNA_%20_1|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|KIAA0495|"KIAA0495"|PDAM|"p53-dependent_%20_apoptosis_%20_modulator"|1p36.32|2017-04-28|2014-01-20|2014-01-20|||57212|ENSG00000227372|20477830_%2C__%20_23726844_%2C__%20_28403886|NR_033708|788|Long_%20_non-coding_%20_RNAs_%20_(published)||OTTHUMG00000003414|57212||NR_033708|Q9UF72|ENSG00000227372|uc009vlm.4|T73AS_HUMAN|||Q9UF72||extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3669362 exm7506 C T . PASS FUNCOTATION=[CCDC27|hg19|chr1|3669362|3669362|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:3669362C>T|ENST00000294600.2|+|1|401|c.317C>T|c.(316-318)aCg>aTg|p.T106M|0.6034912718204489|TACAGGAAGACGGTATGGGGT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112112|NM_152492.2|NP_689705.2|HGNC:26546|coiled-coil_%20_domain_%20_containing_%20_27|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32825||1p36.32|2014-11-19|||||148870|ENSG00000162592||NM_152492|||CCDS50|OTTHUMG00000003504|148870||NM_152492|Q2M243|ENSG00000162592|uc001akv.3|CCD27_HUMAN||Q5TBV3_%7C_Q96M50|Q2M243|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3672032 exm7520 G T . PASS FUNCOTATION=[CCDC27|hg19|chr1|3672032|3672032|NONSENSE||SNP|G|G|T|g.chr1:3672032G>T|ENST00000294600.2|+|3|538|c.454G>T|c.(454-456)Gag>Tag|p.E152*|0.5860349127182045|TTCACCCACTGAGGCCGATTT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112112|NM_152492.2|NP_689705.2|HGNC:26546|coiled-coil_%20_domain_%20_containing_%20_27|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32825||1p36.32|2014-11-19|||||148870|ENSG00000162592||NM_152492|||CCDS50|OTTHUMG00000003504|148870||NM_152492|Q2M243|ENSG00000162592|uc001akv.3|CCD27_HUMAN||Q5TBV3_%7C_Q96M50|Q2M243|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3673329 newrs150537276 G T . PASS FUNCOTATION=[CCDC27|hg19|chr1|3673329|3673329|NONSENSE||SNP|G|G|T|g.chr1:3673329G>T|ENST00000294600.2|+|4|670|c.586G>T|c.(586-588)Gag>Tag|p.E196*|0.5785536159600998|GAGCATCTGCGAGTTCGATTA||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112112|NM_152492.2|NP_689705.2|HGNC:26546|coiled-coil_%20_domain_%20_containing_%20_27|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32825||1p36.32|2014-11-19|||||148870|ENSG00000162592||NM_152492|||CCDS50|OTTHUMG00000003504|148870||NM_152492|Q2M243|ENSG00000162592|uc001akv.3|CCD27_HUMAN||Q5TBV3_%7C_Q96M50|Q2M243|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3677854 exm2251521 C T . PASS FUNCOTATION=[CCDC27|hg19|chr1|3677854|3677854|SILENT||SNP|C|C|T|g.chr1:3677854C>T|ENST00000294600.2|+|5|805|c.721C>T|c.(721-723)Ctg>Ttg|p.L241L|0.5785536159600998|GGATCACTGCCTGTCTGAGCT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112112|NM_152492.2|NP_689705.2|HGNC:26546|coiled-coil_%20_domain_%20_containing_%20_27|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32825||1p36.32|2014-11-19|||||148870|ENSG00000162592||NM_152492|||CCDS50|OTTHUMG00000003504|148870||NM_152492|Q2M243|ENSG00000162592|uc001akv.3|CCD27_HUMAN||Q5TBV3_%7C_Q96M50|Q2M243|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3679252 exm2251522 G A . PASS FUNCOTATION=[CCDC27|hg19|chr1|3679252|3679252|SILENT||SNP|G|G|A|g.chr1:3679252G>A|ENST00000294600.2|+|6|1014|c.930G>A|c.(928-930)gaG>gaA|p.E310E|0.6658354114713217|CCAGACATGAGGAGGAGCTGC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112112|NM_152492.2|NP_689705.2|HGNC:26546|coiled-coil_%20_domain_%20_containing_%20_27|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32825||1p36.32|2014-11-19|||||148870|ENSG00000162592||NM_152492|||CCDS50|OTTHUMG00000003504|148870||NM_152492|Q2M243|ENSG00000162592|uc001akv.3|CCD27_HUMAN||Q5TBV3_%7C_Q96M50|Q2M243|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3680362 exm7600 C T . PASS FUNCOTATION=[CCDC27|hg19|chr1|3680362|3680362|NONSENSE||SNP|C|C|T|g.chr1:3680362C>T|ENST00000294600.2|+|8|1498|c.1414C>T|c.(1414-1416)Cga>Tga|p.R472*|0.6259351620947631|GAAGGAGCTCCGAGAGCGGAG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112112|NM_152492.2|NP_689705.2|HGNC:26546|coiled-coil_%20_domain_%20_containing_%20_27|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32825||1p36.32|2014-11-19|||||148870|ENSG00000162592||NM_152492|||CCDS50|OTTHUMG00000003504|148870||NM_152492|Q2M243|ENSG00000162592|uc001akv.3|CCD27_HUMAN||Q5TBV3_%7C_Q96M50|Q2M243|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3686357 variant.429 T G . PASS FUNCOTATION=[CCDC27|hg19|chr1|3686357|3686357|NONSENSE||SNP|T|T|G|g.chr1:3686357T>G|ENST00000294600.2|+|11|1838|c.1754T>G|c.(1753-1755)tTa>tGa|p.L585*|0.5386533665835411|CTCGAGAGGTTAAGGAATAAG|SMIM1_ENST00000444870.2_FIVE_PRIME_FLANK/SMIM1_ENST00000561886.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112112|NM_152492.2|NP_689705.2|HGNC:26546|coiled-coil_%20_domain_%20_containing_%20_27|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32825||1p36.32|2014-11-19|||||148870|ENSG00000162592||NM_152492|||CCDS50|OTTHUMG00000003504|148870||NM_152492|Q2M243|ENSG00000162592|uc001akv.3|CCD27_HUMAN||Q5TBV3_%7C_Q96M50|Q2M243|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3696925 psy_rs11547616 C T . PASS FUNCOTATION=[LRRC47|hg19|chr1|3696925|3696925|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:3696925C>T|ENST00000378251.1|-|7|||||0.4488778054862843|ACACACTGCACGAGAATATTG|RN7SL574P_ENST00000581512.1_FIVE_PRIME_FLANK/RP1-286D6.5_ENST00000607459.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||BC031301|NM_020710.2|NP_065761.1|HGNC:29207|leucine_%20_rich_%20_repeat_%20_containing_%20_47|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA1185_%2C__%20_RP1-286D6.3||1p36.32|2014-11-19|||AB033011||57470|ENSG00000130764|10574461|NM_020710|||CCDS51|OTTHUMG00000003506|57470||NM_020710|Q8N1G4|ENSG00000130764|uc001akx.2|LRC47_HUMAN||Q9ULN5|Q8N1G4|||phenylalanine-tRNA_%20_ligase_%20_activity_%20_(GO:0004826)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3698166 var_1_3698166 C T . PASS FUNCOTATION=[LRRC47|hg19|chr1|3698166|3698166|SPLICE_SITE|INTRON|SNP|C|C|T|g.chr1:3698166C>T|ENST00000378251.1|-|||c.e6+1G>A|c.e6-1||0.4613466334164589|TTTTCTTAACCTTAAAAGAAA|RN7SL574P_ENST00000581512.1_FIVE_PRIME_FLANK/RP1-286D6.5_ENST00000607459.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||BC031301|NM_020710.2|NP_065761.1|HGNC:29207|leucine_%20_rich_%20_repeat_%20_containing_%20_47|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA1185_%2C__%20_RP1-286D6.3||1p36.32|2014-11-19|||AB033011||57470|ENSG00000130764|10574461|NM_020710|||CCDS51|OTTHUMG00000003506|57470||NM_020710|Q8N1G4|ENSG00000130764|uc001akx.2|LRC47_HUMAN||Q9ULN5|Q8N1G4|||phenylalanine-tRNA_%20_ligase_%20_activity_%20_(GO:0004826)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3739988 variant.436 G A . PASS FUNCOTATION=[CEP104|hg19|chr1|3739988|3739988|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:3739988G>A|ENST00000378230.3|-|19|2828|c.2503C>T|c.(2503-2505)Cct>Tct|p.P835S|0.5411471321695761|GGGCACTCACGGTTGCAATCC||||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3743271 variant.437 C A . PASS FUNCOTATION=[CEP104|hg19|chr1|3743271|3743271|SPLICE_SITE|INTRON|SNP|C|C|A|g.chr1:3743271C>A|ENST00000378230.3|-|||c.e16-1G>T|c.e16+1||0.46384039900249374|TCTTTACATACCCTGATTCTT||||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3751489 variant.438 G A . PASS FUNCOTATION=[CEP104|hg19|chr1|3751489|3751489|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:3751489G>A|ENST00000378230.3|-|11|1810|c.1485C>T|c.(1483-1485)tcC>tcT|p.S495S|0.48129675810473815|GGGCACTCACGGAGGTCACAA|CEP104_ENST00000460038.1_SPLICE_SITE|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3751489 variant.438 G A . PASS FUNCOTATION=[CEP104|hg19|chr1|3751489|3751489|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:3751489G>A|ENST00000378230.3|-|11|1810|c.1485C>T|c.(1483-1485)tcC>tcT|p.S495S|0.48129675810473815|GGGCACTCACGGAGGTCACAA|CEP104_ENST00000460038.1_SPLICE_SITE|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3753856 exm7850 A G . PASS FUNCOTATION=[CEP104|hg19|chr1|3753856|3753856|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:3753856A>G|ENST00000378230.3|-|9|1444|c.1119T>C|c.(1117-1119)aaT>aaC|p.N373N|0.47880299251870323|AATTACCTACATTGATCTTTG|CEP104_ENST00000460038.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3753856 exm7850 A G . PASS FUNCOTATION=[CEP104|hg19|chr1|3753856|3753856|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:3753856A>G|ENST00000378230.3|-|9|1444|c.1119T>C|c.(1117-1119)aaT>aaC|p.N373N|0.47880299251870323|AATTACCTACATTGATCTTTG|CEP104_ENST00000460038.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3753972 exm7856 G A . PASS FUNCOTATION=[CEP104|hg19|chr1|3753972|3753972|NONSENSE||SNP|G|G|A|g.chr1:3753972G>A|ENST00000378230.3|-|9|1328|c.1003C>T|c.(1003-1005)Cag>Tag|p.Q335*|0.43640897755610975|TCTGCAAACTGGTTTTCTGTT|CEP104_ENST00000460038.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3755660 variant.443 A C . PASS FUNCOTATION=[CEP104|hg19|chr1|3755660|3755660|NONSENSE||SNP|A|A|C|g.chr1:3755660A>C|ENST00000378230.3|-|8|1084|c.759T>G|c.(757-759)taT>taG|p.Y253*|0.5112219451371571|TCTCTACCTCATACCTCCCAA|CEP104_ENST00000460038.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3756342 variant.444 T C . PASS FUNCOTATION=[CEP104|hg19|chr1|3756342|3756342|SPLICE_SITE|INTRON|SNP|T|T|C|g.chr1:3756342T>C|ENST00000378230.3|-|||c.e7+2A>G|c.e7-2||0.428927680798005|TCAGATTTCCTAAAGGGAAGA|CEP104_ENST00000460038.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3761541 variant.445 G A . PASS FUNCOTATION=[CEP104|hg19|chr1|3761541|3761541|NONSENSE||SNP|G|G|A|g.chr1:3761541G>A|ENST00000378230.3|-|6|821|c.496C>T|c.(496-498)Cga>Tga|p.R166*|0.4164588528678304|AACTTCTCTCGAGAGGCCTTT|CEP104_ENST00000378223.3_NONSENSE_p.R166*|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3761547 exm7894 C A . PASS FUNCOTATION=[CEP104|hg19|chr1|3761547|3761547|SPLICE_SITE|MISSENSE|SNP|C|C|A|g.chr1:3761547C>A|ENST00000378230.3|-|6|815|c.490G>T|c.(490-492)Gcc>Tcc|p.A164S|0.4164588528678304|TCTCGAGAGGCCTTTGGGGGC|CEP104_ENST00000378223.3_SPLICE_SITE_p.A164S|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3765282 exm2251546 C T . PASS FUNCOTATION=[CEP104|hg19|chr1|3765282|3765282|SILENT||SNP|C|C|T|g.chr1:3765282C>T|ENST00000378230.3|-|3|502|c.177G>A|c.(175-177)ctG>ctA|p.L59L|0.3740648379052369|CAAGTAACTGCAGTTTCCTTA|CEP104_ENST00000378223.3_SILENT_p.L59L|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3765302 chr1_3765302 T A . PASS FUNCOTATION=[CEP104|hg19|chr1|3765302|3765302|NONSENSE||SNP|T|T|A|g.chr1:3765302T>A|ENST00000378230.3|-|3|482|c.157A>T|c.(157-159)Aga>Tga|p.R53*|0.3790523690773067|ATTCGACATCTCTCCACCATT|CEP104_ENST00000378223.3_NONSENSE_p.R53*|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3784549 variant.448 C T . PASS FUNCOTATION=[DFFB|hg19|chr1|3784549|3784549|NONSENSE||SNP|C|C|T|g.chr1:3784549C>T|ENST00000378209.3|+|4|765|c.442C>T|c.(442-444)Cga>Tga|p.R148*|0.5760598503740648|CTTGGAGTCCCGATTTCAGAG|DFFB_ENST00000338895.3_NONSENSE_p.R148*|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC048797|NM_004402.2|NP_004393.1|HGNC:2773|DNA_%20_fragmentation_%20_factor_%20_subunit_%20_beta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DNA_%20_fragmentation_%20_factor_%2C__%20_40kDa_%2C__%20_beta_%20_polypeptide_%20_(caspase-activated_%20_DNase)"|CAD_%2C__%20_CPAN_%2C__%20_DFF-40_%2C__%20_DFF40|"caspase-activated_%20_DNase"|1p36.32|2016-10-05||2016-02-03|||1677|ENSG00000169598|9108473_%2C__%20_9560346|NM_001282669|||CCDS52_%2C__%20_CCDS72693|OTTHUMG00000003525|1677|601883|NM_001282669|O76075|ENSG00000169598|uc001alc.5|DFFB_HUMAN||O60521_%7C_Q5SR22_%7C_Q9BYI4_%7C_Q9BYI5_%7C_Q9BYI6|O76075|apoptotic_%20_chromosome_%20_condensation_%20_(GO:0030263)_%7C_apoptotic_%20_DNA_%20_fragmentation_%20_(GO:0006309)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_cellular_%20_component_%20_disassembly_%20_involved_%20_in_%20_execution_%20_phase_%20_of_%20_apoptosis_%20_(GO:0006921)|cytosol_%20_(GO:0005829)_%7C_nuclear_%20_chromatin_%20_(GO:0000790)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|deoxyribonuclease_%20_activity_%20_(GO:0004536)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_enzyme_%20_binding_%20_(GO:0019899)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|DFFB:1677|false|true|false|false|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|371788433|3784549|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000605040426000100|1|false|138|rs371788433|] -chr1 3789041 indel.451 CT C . PASS FUNCOTATION=[DFFB|hg19|chr1|3789042|3789042|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:3789042delT|ENST00000378209.3|+|6|1010|c.688delT|c.(688-690)tttfs|p.F230fs|0.5885286783042394|CCAGGGTCCCTTTGACATGGA|DFFB_ENST00000338895.3_FRAME_SHIFT_DEL_p.F230fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC048797|NM_004402.2|NP_004393.1|HGNC:2773|DNA_%20_fragmentation_%20_factor_%20_subunit_%20_beta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DNA_%20_fragmentation_%20_factor_%2C__%20_40kDa_%2C__%20_beta_%20_polypeptide_%20_(caspase-activated_%20_DNase)"|CAD_%2C__%20_CPAN_%2C__%20_DFF-40_%2C__%20_DFF40|"caspase-activated_%20_DNase"|1p36.32|2016-10-05||2016-02-03|||1677|ENSG00000169598|9108473_%2C__%20_9560346|NM_001282669|||CCDS52_%2C__%20_CCDS72693|OTTHUMG00000003525|1677|601883|NM_001282669|O76075|ENSG00000169598|uc001alc.5|DFFB_HUMAN||O60521_%7C_Q5SR22_%7C_Q9BYI4_%7C_Q9BYI5_%7C_Q9BYI6|O76075|apoptotic_%20_chromosome_%20_condensation_%20_(GO:0030263)_%7C_apoptotic_%20_DNA_%20_fragmentation_%20_(GO:0006309)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_cellular_%20_component_%20_disassembly_%20_involved_%20_in_%20_execution_%20_phase_%20_of_%20_apoptosis_%20_(GO:0006921)|cytosol_%20_(GO:0005829)_%7C_nuclear_%20_chromatin_%20_(GO:0000790)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|deoxyribonuclease_%20_activity_%20_(GO:0004536)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_enzyme_%20_binding_%20_(GO:0019899)||||true|false||false|false|||false|false|false|DFFB:1677|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|755710345|3789042|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs755710345|] -chr1 3800158 indel.452 TG T . PASS FUNCOTATION=[DFFB|hg19|chr1|3800159|3800159|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:3800159delG|ENST00000378209.3|+|7|1193|c.871delG|c.(871-873)ggcfs|p.G291fs|0.46384039900249374|GTATTTTTATGGCCTGCTTTT|AL691523.1_ENST00000579705.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC048797|NM_004402.2|NP_004393.1|HGNC:2773|DNA_%20_fragmentation_%20_factor_%20_subunit_%20_beta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DNA_%20_fragmentation_%20_factor_%2C__%20_40kDa_%2C__%20_beta_%20_polypeptide_%20_(caspase-activated_%20_DNase)"|CAD_%2C__%20_CPAN_%2C__%20_DFF-40_%2C__%20_DFF40|"caspase-activated_%20_DNase"|1p36.32|2016-10-05||2016-02-03|||1677|ENSG00000169598|9108473_%2C__%20_9560346|NM_001282669|||CCDS52_%2C__%20_CCDS72693|OTTHUMG00000003525|1677|601883|NM_001282669|O76075|ENSG00000169598|uc001alc.5|DFFB_HUMAN||O60521_%7C_Q5SR22_%7C_Q9BYI4_%7C_Q9BYI5_%7C_Q9BYI6|O76075|apoptotic_%20_chromosome_%20_condensation_%20_(GO:0030263)_%7C_apoptotic_%20_DNA_%20_fragmentation_%20_(GO:0006309)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_cellular_%20_component_%20_disassembly_%20_involved_%20_in_%20_execution_%20_phase_%20_of_%20_apoptosis_%20_(GO:0006921)|cytosol_%20_(GO:0005829)_%7C_nuclear_%20_chromatin_%20_(GO:0000790)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|deoxyribonuclease_%20_activity_%20_(GO:0004536)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_enzyme_%20_binding_%20_(GO:0019899)||||true|false||false|false|||false|false|false|DFFB:1677|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|777060714|3800159|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs777060714|] -chr1 3806595 exm8005 G A . PASS FUNCOTATION=[C1orf174|hg19|chr1|3806595|3806595|NONSENSE||SNP|G|G|A|g.chr1:3806595G>A|ENST00000361605.3|-|4|760|c.661C>T|c.(661-663)Cga>Tga|p.R221*|0.4314214463840399|CTGAACTCTCGTCTGCTCATT|C1orf174_ENST00000486765.1_INTRON|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471130|NM_207356.2|NP_997239.2|HGNC:27915|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_174|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||RP13-531C17.2||1p36.32|2017-07-11|||BC035643||339448|ENSG00000198912|12477932|NM_207356|||CCDS53|OTTHUMG00000003739|339448||NM_207356|Q8IYL3|ENSG00000198912|uc001alf.4|CA174_HUMAN||A8K0C8_%7C_A8MUG9_%7C_Q5SR20_%7C_Q6NX36|Q8IYL3||nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3806595 variant.453 G A . PASS FUNCOTATION=[C1orf174|hg19|chr1|3806595|3806595|NONSENSE||SNP|G|G|A|g.chr1:3806595G>A|ENST00000361605.3|-|4|760|c.661C>T|c.(661-663)Cga>Tga|p.R221*|0.4314214463840399|CTGAACTCTCGTCTGCTCATT|C1orf174_ENST00000486765.1_INTRON|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471130|NM_207356.2|NP_997239.2|HGNC:27915|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_174|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||RP13-531C17.2||1p36.32|2017-07-11|||BC035643||339448|ENSG00000198912|12477932|NM_207356|||CCDS53|OTTHUMG00000003739|339448||NM_207356|Q8IYL3|ENSG00000198912|uc001alf.4|CA174_HUMAN||A8K0C8_%7C_A8MUG9_%7C_Q5SR20_%7C_Q6NX36|Q8IYL3||nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3807537 variant.455 G A . PASS FUNCOTATION=[C1orf174|hg19|chr1|3807537|3807537|NONSENSE||SNP|G|G|A|g.chr1:3807537G>A|ENST00000361605.3|-|3|313|c.214C>T|c.(214-216)Cag>Tag|p.Q72*|0.47381546134663344|ACAAGCTTCTGTAATTCTGAC|C1orf174_ENST00000486765.1_INTRON|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471130|NM_207356.2|NP_997239.2|HGNC:27915|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_174|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||RP13-531C17.2||1p36.32|2017-07-11|||BC035643||339448|ENSG00000198912|12477932|NM_207356|||CCDS53|OTTHUMG00000003739|339448||NM_207356|Q8IYL3|ENSG00000198912|uc001alf.4|CA174_HUMAN||A8K0C8_%7C_A8MUG9_%7C_Q5SR20_%7C_Q6NX36|Q8IYL3||nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 3821782 rs11589102 G A . PASS FUNCOTATION=[C1orf174|hg19|chr1|3821782|3821782|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:3821782G>A|ENST00000361605.3|-||||||0.4688279301745636|CTAAACTAATGTTTTCTTAAT|RP13-15E13.1_ENST00000442673.1_LINCRNA/C1orf174_ENST00000486765.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471130|NM_207356.2|NP_997239.2|HGNC:27915|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_174|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||RP13-531C17.2||1p36.32|2017-07-11|||BC035643||339448|ENSG00000198912|12477932|NM_207356|||CCDS53|OTTHUMG00000003739|339448||NM_207356|Q8IYL3|ENSG00000198912|uc001alf.4|CA174_HUMAN||A8K0C8_%7C_A8MUG9_%7C_Q5SR20_%7C_Q6NX36|Q8IYL3||nucleus_%20_(GO:0005634)|||||true|false|0.8093_%2C_0.1907|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11589102|3821782|false|false|0|true|0|false|0.748643_%2C_0.251357|false|false|false|SNV|true|0x05010008000517053f000101|1|false|120|rs11589102|] -chr1 3822703 rs10909830 C T . PASS FUNCOTATION=[RP13-15E13.1|hg19|chr1|3822703|3822703|LINCRNA||SNP|C|C|T|g.chr1:3822703C>T|ENST00000442673.1|+|||c.e1+5508C>T|||0.5012468827930174|TTTTCACCGACGCAGGCCCGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7055_%2C_0.2945|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10909830|3822703|false|false|0|true|0|false|0.663061_%2C_0.336939|false|false|false|SNV|true|0x05010008000517053f000100|1|false|120|rs10909830|] -chr1 3823395 kgp9113347 C T . PASS FUNCOTATION=[RP13-15E13.1|hg19|chr1|3823395|3823395|LINCRNA||SNP|C|C|T|g.chr1:3823395C>T|ENST00000442673.1|+|||c.e1+6200C>T|||0.5411471321695761|TGCAGATCCACGTCTGCCTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8087_%2C_0.1913|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28973022|3823395|false|false|0|true|0|false|0.748918_%2C_0.251082|false|false|false|SNV|true|0x05010008000517053f000100|1|false|125|rs28973022|] -chr1 3825525 rs35383955 C T . PASS FUNCOTATION=[RP13-15E13.1|hg19|chr1|3825525|3825525|LINCRNA||SNP|C|C|T|g.chr1:3825525C>T|ENST00000442673.1|+|||c.e2-5434C>T|||0.600997506234414|GTGCCCCAAGCGGAGCTCTTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7456_%2C_0.2544|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|35383955|3825525|false|false|0|true|0|false||false|false|false|SNV|true|0x05010008000517053e000100|1|false|126|rs35383955|] -chr1 4002498 psy_rs7538691 T C . PASS FUNCOTATION=[RP13-614K11.1|hg19|chr1|4002498|4002498|LINCRNA||SNP|T|T|C|g.chr1:4002498T>C|ENST00000412674.1|+|||c.e2+1295T>C|||0.456359102244389|ATCCACATGCTGAAGTCCTTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4375_%2C_0.5625|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7538691|4002498|false|false|0|true|0|false|0.405969_%2C_0.594031|false|false|false|SNV|true|0x05010008000517053f000100|1|false|116|rs7538691|] -chr1 4005693 rs7524279 G A . PASS FUNCOTATION=[RP13-614K11.1|hg19|chr1|4005693|4005693|LINCRNA||SNP|G|G|A|g.chr1:4005693G>A|ENST00000412674.1|+|||c.e2+4490G>A|||0.5760598503740648|GACGGGAGGAGAAAATGCTTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6971_%2C_0.3029|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7524279|4005693|false|false|0|true|0|false|0.703791_%2C_0.296209|false|false|false|SNV|true|0x05010008000517053f000100|1|false|116|rs7524279|] -chr1 4006060 rs7548668 T C . PASS FUNCOTATION=[RP13-614K11.1|hg19|chr1|4006060|4006060|LINCRNA||SNP|T|T|C|g.chr1:4006060T>C|ENST00000412674.1|+|||c.e2+4857T>C|||0.6184538653366584|CAGAGCGGCATCTGGTTGCCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5789_%2C_0.4211|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7548668|4006060|false|false|0|true|0|false|0.550072_%2C_0.449928|false|false|false|SNV|true|0x05010008000517053f000101|1|false|116|rs7548668|] -chr1 4009071 rs10799181 T C . PASS FUNCOTATION=[RP13-614K11.1|hg19|chr1|4009071|4009071|LINCRNA||SNP|T|T|C|g.chr1:4009071T>C|ENST00000412674.1|+|||c.e3-3242T>C|||0.5187032418952618|TTGATTTCCTTTCATCCGTCC|RP13-614K11.2_ENST00000425194.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8125_%2C_0.1875|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10799181|4009071|false|false|0|true|0|false|0.796964_%2C_0.203036|false|false|false|SNV|true|0x05010008000517053f000101|1|false|120|rs10799181|] -chr1 4009694 psy_rs4654479 G A . PASS FUNCOTATION=[RP13-614K11.1|hg19|chr1|4009694|4009694|LINCRNA||SNP|G|G|A|g.chr1:4009694G>A|ENST00000412674.1|+|||c.e3-2619G>A|||0.42643391521197005|AATTATAGATGTGCTTTGATG|RP13-614K11.2_ENST00000425194.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8255_%2C_0.1745|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4654479|4009694|false|false|0|true|0|false|0.824713_%2C_0.175287|false|false|false|SNV|true|0x05010008000517053f000101|1|false|111|rs4654479|] -chr1 4009793 psy_rs4654480 C T . PASS FUNCOTATION=[RP13-614K11.1|hg19|chr1|4009793|4009793|LINCRNA||SNP|C|C|T|g.chr1:4009793C>T|ENST00000412674.1|+|||c.e3-2520C>T|||0.428927680798005|CTCACAGAGTCGCAGCTTGGT|RP13-614K11.2_ENST00000425194.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8079_%2C_0.1921|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4654480|4009793|false|false|0|true|0|false|0.796552_%2C_0.203448|false|false|false|SNV|true|0x050100080005170537000100|1|false|111|rs4654480|] -chr1 4481215 rs4654432 C T . PASS FUNCOTATION=[RP5-1166F10.1|hg19|chr1|4481215|4481215|LINCRNA||SNP|C|C|T|g.chr1:4481215C>T|ENST00000423197.1|+|||c.e4-1605C>T|||0.45885286783042395|CTGACCCTTTCGAGGCCAGAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 4634978 rs1541318 A G . PASS FUNCOTATION=[RP1-37J18.2|hg19|chr1|4634978|4634978|LINCRNA||SNP|A|A|G|g.chr1:4634978A>G|ENST00000420522.1|+|||c.e2+2326A>G|||0.3865336658354115|AGATGTAAATATGGACTCATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 4636767 rs1157688 T C . PASS FUNCOTATION=[RP1-37J18.2|hg19|chr1|4636767|4636767|LINCRNA||SNP|T|T|C|g.chr1:4636767T>C|ENST00000420522.1|+|||c.e2+4115T>C|||0.3640897755610973|TCATTTTAAGTTCTGTTCATC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 4640902 rs1024139 T C . PASS FUNCOTATION=[RP1-37J18.2|hg19|chr1|4640902|4640902|LINCRNA||SNP|T|T|C|g.chr1:4640902T>C|ENST00000420522.1|+|||c.e3-1435T>C|||0.4014962593516209|GAGTTCCCAGTATCAGTTATC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 4832482 exm2251963 C T . PASS FUNCOTATION=[AJAP1|hg19|chr1|4832482|4832482|SILENT||SNP|C|C|T|g.chr1:4832482C>T|ENST00000378191.4|+|4|1441|c.1060C>T|c.(1060-1062)Ctg>Ttg|p.L354L|0.6059850374064838|TAACGAGACCCTGCAGTGTTC|AJAP1_ENST00000378190.3_SILENT_p.L354L|||||||||||||||||||||||||116|biliary_tract(27)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||Z98886|NM_018836.3|NP_061324.1|HGNC:30801|adherens_%20_junctions_%20_associated_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SHREW1_%2C__%20_SHREW-1_%2C__%20_MOT8|"transmembrane_%20_protein_%20_SHREW1"|1p36.32|2014-11-19||2008-01-08|AF175409||55966|ENSG00000196581|14595118|NM_018836|||CCDS54|OTTHUMG00000000645|55966|610972|NM_001042478|Q9UKB5|ENSG00000196581|uc001alo.5|AJAP1_HUMAN||Q9Y229|Q9UKB5|cell_%20_adhesion_%20_(GO:0007155)|cell_%20_junction_%20_(GO:0030054)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 4843233 psy_rs115280749 G A . PASS FUNCOTATION=[AJAP1|hg19|chr1|4843233|4843233|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:4843233G>A|ENST00000378191.4|+|6|||||0.3690773067331671|ATAAACCAGTGTTTTCTACTT||||||||||||||||||||||||||116|biliary_tract(27)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||Z98886|NM_018836.3|NP_061324.1|HGNC:30801|adherens_%20_junctions_%20_associated_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SHREW1_%2C__%20_SHREW-1_%2C__%20_MOT8|"transmembrane_%20_protein_%20_SHREW1"|1p36.32|2014-11-19||2008-01-08|AF175409||55966|ENSG00000196581|14595118|NM_018836|||CCDS54|OTTHUMG00000000645|55966|610972|NM_001042478|Q9UKB5|ENSG00000196581|uc001alo.5|AJAP1_HUMAN||Q9Y229|Q9UKB5|cell_%20_adhesion_%20_(GO:0007155)|cell_%20_junction_%20_(GO:0030054)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 4844376 rs9426506 C T . PASS FUNCOTATION=[AJAP1|hg19|chr1|4844376|4844376|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:4844376C>T|ENST00000378191.4|+|6|||||0.5236907730673317|GTTTCCTGTCCATGGGAGACG||||||||||||||||||||||||||116|biliary_tract(27)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||Z98886|NM_018836.3|NP_061324.1|HGNC:30801|adherens_%20_junctions_%20_associated_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SHREW1_%2C__%20_SHREW-1_%2C__%20_MOT8|"transmembrane_%20_protein_%20_SHREW1"|1p36.32|2014-11-19||2008-01-08|AF175409||55966|ENSG00000196581|14595118|NM_018836|||CCDS54|OTTHUMG00000000645|55966|610972|NM_001042478|Q9UKB5|ENSG00000196581|uc001alo.5|AJAP1_HUMAN||Q9Y229|Q9UKB5|cell_%20_adhesion_%20_(GO:0007155)|cell_%20_junction_%20_(GO:0030054)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 4847594 rs11805709 C T . PASS FUNCOTATION=[AJAP1|hg19|chr1|4847594|4847594|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:4847594C>T|ENST00000378191.4|+|6|||||0.5660847880299252|GATAAGACATCGCAGTTGTTA||||||||||||||||||||||||||116|biliary_tract(27)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||Z98886|NM_018836.3|NP_061324.1|HGNC:30801|adherens_%20_junctions_%20_associated_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SHREW1_%2C__%20_SHREW-1_%2C__%20_MOT8|"transmembrane_%20_protein_%20_SHREW1"|1p36.32|2014-11-19||2008-01-08|AF175409||55966|ENSG00000196581|14595118|NM_018836|||CCDS54|OTTHUMG00000000645|55966|610972|NM_001042478|Q9UKB5|ENSG00000196581|uc001alo.5|AJAP1_HUMAN||Q9Y229|Q9UKB5|cell_%20_adhesion_%20_(GO:0007155)|cell_%20_junction_%20_(GO:0030054)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5671786 rs707582 A G . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5671786|5671786|LINCRNA||SNP|A|A|G|g.chr1:5671786A>G|ENST00000413887.1|-|||c.e2+24151T>C|||0.4688279301745636|AGTTCCAAGGACCAGAGCAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5674434 rs770718 T C . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5674434|5674434|LINCRNA||SNP|T|T|C|g.chr1:5674434T>C|ENST00000413887.1|-|||c.e2+26799A>G|||0.4488778054862843|ACCAGGAATCTTTTTTGCCCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5679441 rs9439603 A G . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5679441|5679441|LINCRNA||SNP|A|A|G|g.chr1:5679441A>G|ENST00000413887.1|-|||c.e2+31806T>C|||0.4613466334164589|TATCTCAATCATGAACTAATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5679808 rs9439587 G A . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5679808|5679808|LINCRNA||SNP|G|G|A|g.chr1:5679808G>A|ENST00000413887.1|-|||c.e2+32173C>T|||0.48877805486284287|ATGATGGAGAGTGAGGAACTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5680572 rs10157819 A G . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5680572|5680572|LINCRNA||SNP|A|A|G|g.chr1:5680572A>G|ENST00000413887.1|-|||c.e2+32937T>C|||0.5286783042394015|TGTGACTCTTAAGACTAGATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5684301 rs945322 A C . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5684301|5684301|LINCRNA||SNP|A|A|C|g.chr1:5684301A>C|ENST00000413887.1|-|||c.e2+36666T>G|||0.456359102244389|TGTTGGTTCAAATTTTTTAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5686915 rs4845793 A G . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5686915|5686915|LINCRNA||SNP|A|A|G|g.chr1:5686915A>G|ENST00000413887.1|-|||c.e2+39280T>C|||0.36658354114713215|TATATTGGTCACAAATTGGAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5701323 rs6690868 T C . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5701323|5701323|LINCRNA||SNP|T|T|C|g.chr1:5701323T>C|ENST00000413887.1|-|||c.e1-26878A>G|||0.45885286783042395|CCAGCAGGTGTGCCTGTCTCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5703552 rs17028491 G A . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5703552|5703552|LINCRNA||SNP|G|G|A|g.chr1:5703552G>A|ENST00000413887.1|-|||c.e1-24649C>T|||0.4538653366583541|CCTTGGACAAGGTGTAAGGAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5705925 psy_rs140106773 C T . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5705925|5705925|LINCRNA||SNP|C|C|T|g.chr1:5705925C>T|ENST00000413887.1|-|||c.e1-22276G>A|||0.5062344139650873|CCCCCACATGCCCCAAATTCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5707091 rs971816 A C . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5707091|5707091|LINCRNA||SNP|A|A|C|g.chr1:5707091A>C|ENST00000413887.1|-|||c.e1-21110T>G|||0.5610972568578554|GGTTTATAAGATGGACGTGGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5711647 rs707589 T C . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5711647|5711647|LINCRNA||SNP|T|T|C|g.chr1:5711647T>C|ENST00000413887.1|-|||c.e1-16554A>G|||0.5511221945137157|GTTTCCCCAATGGTCTCCAGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5712831 rs707590 A G . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5712831|5712831|LINCRNA||SNP|A|A|G|g.chr1:5712831A>G|ENST00000413887.1|-|||c.e1-15370T>C|||0.5561097256857855|CCAAGGGGCCAGAGGATAAAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5717388 exm2252278 T C . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5717388|5717388|LINCRNA||SNP|T|T|C|g.chr1:5717388T>C|ENST00000413887.1|-|||c.e1-10813A>G|||0.4389027431421446|GGGGGCACCTTTGGTCTTCAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5721189 exm2260467 A G . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5721189|5721189|LINCRNA||SNP|A|A|G|g.chr1:5721189A>G|ENST00000413887.1|-|||c.e1-7012T>C|||0.5112219451371571|ATACAGTGACACAACCTAGCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5722405 rs770721 G A . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5722405|5722405|LINCRNA||SNP|G|G|A|g.chr1:5722405G>A|ENST00000413887.1|-|||c.e1-5796C>T|||0.5835411471321695|AAGCAGTGTCGAAGGAATGTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5724940 rs707580 T C . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5724940|5724940|LINCRNA||SNP|T|T|C|g.chr1:5724940T>C|ENST00000413887.1|-|||c.e1-3261A>G|||0.5261845386533666|AAAAGGAATATCTGCCTGTAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5933360 exm2275415 G A . PASS FUNCOTATION=[NPHP4|hg19|chr1|5933360|5933360|SILENT||SNP|G|G|A|g.chr1:5933360G>A|ENST00000378156.4|-|23|3533|c.3267C>T|c.(3265-3267)gaC>gaT|p.D1089D|0.6159600997506235|GTGACACGGCGTCCATGCCCT|NPHP4_ENST00000478423.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5933384 exm2252388 C G . PASS FUNCOTATION=[NPHP4|hg19|chr1|5933384|5933384|SILENT||SNP|C|C|G|g.chr1:5933384C>G|ENST00000378156.4|-|23|3509|c.3243G>C|c.(3241-3243)ggG>ggC|p.G1081G|0.6184538653366584|CGTTGCTCAACCCAGGAGAGG|NPHP4_ENST00000478423.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5933384 exm8213 C G . PASS FUNCOTATION=[NPHP4|hg19|chr1|5933384|5933384|SILENT||SNP|C|C|G|g.chr1:5933384C>G|ENST00000378156.4|-|23|3509|c.3243G>C|c.(3241-3243)ggG>ggC|p.G1081G|0.6184538653366584|CGTTGCTCAACCCAGGAGAGG|NPHP4_ENST00000478423.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5934716 exm8230 C T . PASS FUNCOTATION=[NPHP4|hg19|chr1|5934716|5934716|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:5934716C>T|ENST00000378156.4|-|22|3312|c.3046G>A|c.(3046-3048)Gtc>Atc|p.V1016I|0.6658354114713217|TCCACGATGACGCTGGGGGAG|NPHP4_ENST00000478423.2_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5935159 exm8261 G A . PASS FUNCOTATION=[NPHP4|hg19|chr1|5935159|5935159|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:5935159G>A|ENST00000378156.4|-|21|3085|c.2819C>T|c.(2818-2820)gCg>gTg|p.A940V|0.6309226932668329|GCTCTGCTGCGCCAGCAGACA|NPHP4_ENST00000478423.2_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5935162 exm8262 A T . PASS FUNCOTATION=[NPHP4|hg19|chr1|5935162|5935162|SPLICE_SITE|INTRON|SNP|A|A|T|g.chr1:5935162A>T|ENST00000378156.4|-|||c.e21+2T>A|c.e21-2||0.628428927680798|CTGCTGCGCCAGCAGACAAGA|NPHP4_ENST00000478423.2_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5947525 exm8307 T A . PASS FUNCOTATION=[NPHP4|hg19|chr1|5947525|5947525|SPLICE_SITE|MISSENSE|SNP|T|T|A|g.chr1:5947525T>A|ENST00000378156.4|-|18|2572|c.2306A>T|c.(2305-2307)cAt>cTt|p.H769L|0.6533665835411472|GCGGAGGAGATGCTGCAGAAG|NPHP4_ENST00000478423.2_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5950982 exm1844957 G A . PASS FUNCOTATION=[NPHP4|hg19|chr1|5950982|5950982|SILENT||SNP|G|G|A|g.chr1:5950982G>A|ENST00000378156.4|-|17|2516|c.2250C>T|c.(2248-2250)gaC>gaT|p.D750D|0.5536159600997507|CGTCCCAGACGTCAATCTGCA|NPHP4_ENST00000478423.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5964678 exm8320 A T . PASS FUNCOTATION=[NPHP4|hg19|chr1|5964678|5964678|SPLICE_SITE|SILENT|SNP|A|A|T|g.chr1:5964678A>T|ENST00000378156.4|-|16|2408|c.2142T>A|c.(2140-2142)gcT>gcA|p.A714A|0.5261845386533666|AGTACTCACCAGCATCAAAGG|NPHP4_ENST00000478423.2_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5964678 exm8320 A T . PASS FUNCOTATION=[NPHP4|hg19|chr1|5964678|5964678|SPLICE_SITE|SILENT|SNP|A|A|T|g.chr1:5964678A>T|ENST00000378156.4|-|16|2408|c.2142T>A|c.(2140-2142)gcT>gcA|p.A714A|0.5261845386533666|AGTACTCACCAGCATCAAAGG|NPHP4_ENST00000478423.2_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 5965372 exm2252398 T C . PASS FUNCOTATION=[NPHP4|hg19|chr1|5965372|5965372|SILENT||SNP|T|T|C|g.chr1:5965372T>C|ENST00000378156.4|-|15|2201|c.1935A>G|c.(1933-1935)ctA>ctG|p.L645L|0.49875311720698257|CAAGAAACTGTAGCACCATCT|NPHP4_ENST00000478423.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6007194 exm2252413 C A . PASS FUNCOTATION=[NPHP4|hg19|chr1|6007194|6007194|SILENT||SNP|C|C|A|g.chr1:6007194C>A|ENST00000378156.4|-|9|1355|c.1089G>T|c.(1087-1089)gtG>gtT|p.V363V|0.4937655860349127|GGCTGCTGAACACGTACTCCA|NPHP4_ENST00000478423.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6012895 exm8414 G A . PASS FUNCOTATION=[NPHP4|hg19|chr1|6012895|6012895|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:6012895G>A|ENST00000378156.4|-|7|941|c.675C>T|c.(673-675)ggC>ggT|p.G225G|0.5960099750623441|GGAGAGCGTCGCCTGAAACAG|NPHP4_ENST00000478423.2_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6012895 exm8414 G A . PASS FUNCOTATION=[NPHP4|hg19|chr1|6012895|6012895|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:6012895G>A|ENST00000378156.4|-|7|941|c.675C>T|c.(673-675)ggC>ggT|p.G225G|0.5960099750623441|GGAGAGCGTCGCCTGAAACAG|NPHP4_ENST00000478423.2_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6029157 variant.488 G A . PASS FUNCOTATION=[NPHP4|hg19|chr1|6029157|6029157|NONSENSE||SNP|G|G|A|g.chr1:6029157G>A|ENST00000378156.4|-|4|708|c.442C>T|c.(442-444)Cag>Tag|p.Q148*|0.5187032418952618|CTTTTGTCCTGGGAAGCAGAG|NPHP4_ENST00000478423.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6046217 variant.490 G A . PASS FUNCOTATION=[NPHP4|hg19|chr1|6046217|6046217|NONSENSE||SNP|G|G|A|g.chr1:6046217G>A|ENST00000378156.4|-|2|399|c.133C>T|c.(133-135)Cag>Tag|p.Q45*|0.47880299251870323|TTTGTTACCTGCCTAATTACC|NPHP4_ENST00000478423.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6158562 rs3205229 A G . PASS FUNCOTATION=[KCNAB2|hg19|chr1|6158562|6158562|SILENT||SNP|A|A|G|g.chr1:6158562A>G|ENST00000164247.1|+|16|1596|c.1032A>G|c.(1030-1032)tcA>tcG|p.S344S|0.5386533665835411|CGAAACTGTCATCTTCCATTA|KCNAB2_ENST00000378097.1_SILENT_p.S344S/KCNAB2_ENST00000341524.1_SILENT_p.S344S/KCNAB2_ENST00000352527.1_SILENT_p.S330S/KCNAB2_ENST00000378092.1_SILENT_p.S330S/KCNAB2_ENST00000378083.3_SILENT_p.S392S/KCNAB2_ENST00000602612.1_THREE_PRIME_UTR/KCNAB2_ENST00000378111.1_INTRON/KCNAB2_ENST00000458166.2_SILENT_p.S277S/KCNAB2_ENST00000378087.3_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U33429|NM_001199860.1|NP_001186789.1|HGNC:6229|potassium_%20_voltage-gated_%20_channel_%20_subfamily_%20_A_%20_regulatory_%20_beta_%20_subunit_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"potassium_%20_voltage-gated_%20_channel_%2C__%20_shaker-related_%20_subfamily_%2C__%20_beta_%20_member_%20_2"_%2C__%20_"potassium_%20_channel_%2C__%20_voltage_%20_gated_%20_subfamily_%20_A_%20_regulatory_%20_beta_%20_subunit_%20_2"|AKR6A5_%2C__%20_KCNA2B_%2C__%20_HKvbeta2.1_%2C__%20_HKvbeta2.2||1p36.31|2016-10-05||2016-02-04|U33429||8514|ENSG00000069424|8838324|NM_172130|399_%7C_858|Aldo-keto_%20_reductases_%7C_Potassium_%20_voltage-gated_%20_channel_%20_regulatory_%20_subunits|CCDS55_%2C__%20_CCDS56_%2C__%20_CCDS55570_%2C__%20_CCDS55571|OTTHUMG00000000795|8514|601142|NM_001199860|Q13303|ENSG00000069424|uc009vlv.3|KCAB2_HUMAN||A0AVM9_%7C_A8K1A4_%7C_B0AZR7_%7C_O43659_%7C_Q5TG82_%7C_Q5TG83_%7C_Q6ZNE4_%7C_Q99411|Q13303|hematopoietic_%20_progenitor_%20_cell_%20_differentiation_%20_(GO:0002244)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|cytoplasm_%20_(GO:0005737)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_juxtaparanode_%20_region_%20_of_%20_axon_%20_(GO:0044224)_%7C_plasma_%20_membrane_%20_(GO:0005886)|potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_voltage-gated_%20_potassium_%20_channel_%20_activity_%20_(GO:0005249)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6162583 rs3810993 G A . PASS FUNCOTATION=[CHD5|hg19|chr1|6162583|6162583|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:6162583G>A|ENST00000262450.3|-|42|||||0.6458852867830424|CCAAGTGACCGACACTTGACC|CHD5_ENST00000378021.1_THREE_PRIME_UTR|||||||||||||||||||||||||366|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||AL117491|NM_015557.2|NP_056372.1|HGNC:16816|chromodomain_%20_helicase_%20_DNA_%20_binding_%20_protein_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.31|2016-10-05|||AF425231||26038|ENSG00000116254|11889561_%2C__%20_12592387|NM_015557|1305_%7C_88|NuRD_%20_complex_%7C_PHD_%20_finger_%20_proteins|CCDS57|OTTHUMG00000000952|26038|610771|NM_015557|Q8TDI0|ENSG00000116254|uc001amb.3|WRB_HUMAN||A8KAP8_%7C_A8MQ44_%7C_D3DSH9_%7C_O60740|O00258|tail-anchored_%20_membrane_%20_protein_%20_insertion_%20_into_%20_ER_%20_membrane_%20_(GO:0071816)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6171835 exm8579 G A . PASS FUNCOTATION=[CHD5|hg19|chr1|6171835|6171835|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:6171835G>A|ENST00000262450.3|-|36|5349|c.5249C>T|c.(5248-5250)aCg>aTg|p.T1750M|0.6209476309226932|CCAAGGATACGTCACGATGCC|CHD5_ENST00000378021.1_SPLICE_SITE_p.T607M|||||||||||||||||||||||||366|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||AL117491|NM_015557.2|NP_056372.1|HGNC:16816|chromodomain_%20_helicase_%20_DNA_%20_binding_%20_protein_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.31|2016-10-05|||AF425231||26038|ENSG00000116254|11889561_%2C__%20_12592387|NM_015557|1305_%7C_88|NuRD_%20_complex_%7C_PHD_%20_finger_%20_proteins|CCDS57|OTTHUMG00000000952|26038|610771|NM_015557|Q8TDI0|ENSG00000116254|uc001amb.3|WRB_HUMAN||A8KAP8_%7C_A8MQ44_%7C_D3DSH9_%7C_O60740|O00258|tail-anchored_%20_membrane_%20_protein_%20_insertion_%20_into_%20_ER_%20_membrane_%20_(GO:0071816)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6196869 rs2250358 A G . PASS FUNCOTATION=[CHD5|hg19|chr1|6196869|6196869|SILENT||SNP|A|A|G|g.chr1:6196869A>G|ENST00000262450.3|-|16|2593|c.2493T>C|c.(2491-2493)atT>atC|p.I831I|0.6034912718204489|TGGCCTGGTCAATGGTGATGA|CHD5_ENST00000378021.1_FIVE_PRIME_UTR|||||||||||||||||||||||||366|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||AL117491|NM_015557.2|NP_056372.1|HGNC:16816|chromodomain_%20_helicase_%20_DNA_%20_binding_%20_protein_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.31|2016-10-05|||AF425231||26038|ENSG00000116254|11889561_%2C__%20_12592387|NM_015557|1305_%7C_88|NuRD_%20_complex_%7C_PHD_%20_finger_%20_proteins|CCDS57|OTTHUMG00000000952|26038|610771|NM_015557|Q8TDI0|ENSG00000116254|uc001amb.3|WRB_HUMAN||A8KAP8_%7C_A8MQ44_%7C_D3DSH9_%7C_O60740|O00258|tail-anchored_%20_membrane_%20_protein_%20_insertion_%20_into_%20_ER_%20_membrane_%20_(GO:0071816)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6203883 exm8731 G A . PASS FUNCOTATION=[CHD5|hg19|chr1|6203883|6203883|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:6203883G>A|ENST00000262450.3|-|13|2143|c.2043C>T|c.(2041-2043)gaC>gaT|p.D681D|0.6084788029925187|CCCCACTCACGTCCACAATGG|CHD5_ENST00000378021.1_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||366|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||AL117491|NM_015557.2|NP_056372.1|HGNC:16816|chromodomain_%20_helicase_%20_DNA_%20_binding_%20_protein_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.31|2016-10-05|||AF425231||26038|ENSG00000116254|11889561_%2C__%20_12592387|NM_015557|1305_%7C_88|NuRD_%20_complex_%7C_PHD_%20_finger_%20_proteins|CCDS57|OTTHUMG00000000952|26038|610771|NM_015557|Q8TDI0|ENSG00000116254|uc001amb.3|WRB_HUMAN||A8KAP8_%7C_A8MQ44_%7C_D3DSH9_%7C_O60740|O00258|tail-anchored_%20_membrane_%20_protein_%20_insertion_%20_into_%20_ER_%20_membrane_%20_(GO:0071816)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6203883 exm8731 G A . PASS FUNCOTATION=[CHD5|hg19|chr1|6203883|6203883|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:6203883G>A|ENST00000262450.3|-|13|2143|c.2043C>T|c.(2041-2043)gaC>gaT|p.D681D|0.6084788029925187|CCCCACTCACGTCCACAATGG|CHD5_ENST00000378021.1_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||366|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||AL117491|NM_015557.2|NP_056372.1|HGNC:16816|chromodomain_%20_helicase_%20_DNA_%20_binding_%20_protein_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.31|2016-10-05|||AF425231||26038|ENSG00000116254|11889561_%2C__%20_12592387|NM_015557|1305_%7C_88|NuRD_%20_complex_%7C_PHD_%20_finger_%20_proteins|CCDS57|OTTHUMG00000000952|26038|610771|NM_015557|Q8TDI0|ENSG00000116254|uc001amb.3|WRB_HUMAN||A8KAP8_%7C_A8MQ44_%7C_D3DSH9_%7C_O60740|O00258|tail-anchored_%20_membrane_%20_protein_%20_insertion_%20_into_%20_ER_%20_membrane_%20_(GO:0071816)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6271096 exm8940 C T . PASS FUNCOTATION=[RNF207|hg19|chr1|6271096|6271096|NONSENSE||SNP|C|C|T|g.chr1:6271096C>T|ENST00000377939.4|+|12|1154|c.1027C>T|c.(1027-1029)Cga>Tga|p.R343*|0.6683291770573566|CAGTGACCACCGAGCTGAATT|RNF207_ENST00000377948.2_INTRON/RNF207_ENST00000483336.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC128237|NM_207396.2|NP_997279.2|HGNC:32947|ring_%20_finger_%20_protein_%20_207|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf188|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_188"|FLJ46380_%2C__%20_FLJ32096|"OTTHUMG00000001089"|1p36.31|2015-08-25|||AK128246||388591|ENSG00000158286||NM_207396|58|Ring_%20_finger_%20_proteins|CCDS59|OTTHUMG00000001089|388591|616923|NM_207396|Q6ZRF8|ENSG00000158286|uc001amg.4|RN207_HUMAN||A2VCM8_%7C_B4DFR6_%7C_Q5TGS6_%7C_Q6ZS63_%7C_Q96MP2|Q6ZRF8||intracellular_%20_(GO:0005622)|zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6271178 exm8946 C T . PASS FUNCOTATION=[RNF207|hg19|chr1|6271178|6271178|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:6271178C>T|ENST00000377939.4|+|12|1236|c.1109C>T|c.(1108-1110)aCg>aTg|p.T370M|0.6608478802992519|GGTGCTAACACGTGAGCAGCA|RNF207_ENST00000377948.2_INTRON/RNF207_ENST00000483336.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC128237|NM_207396.2|NP_997279.2|HGNC:32947|ring_%20_finger_%20_protein_%20_207|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf188|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_188"|FLJ46380_%2C__%20_FLJ32096|"OTTHUMG00000001089"|1p36.31|2015-08-25|||AK128246||388591|ENSG00000158286||NM_207396|58|Ring_%20_finger_%20_proteins|CCDS59|OTTHUMG00000001089|388591|616923|NM_207396|Q6ZRF8|ENSG00000158286|uc001amg.4|RN207_HUMAN||A2VCM8_%7C_B4DFR6_%7C_Q5TGS6_%7C_Q6ZS63_%7C_Q96MP2|Q6ZRF8||intracellular_%20_(GO:0005622)|zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6272342 exm8962 C T . PASS FUNCOTATION=[RNF207|hg19|chr1|6272342|6272342|NONSENSE||SNP|C|C|T|g.chr1:6272342C>T|ENST00000377939.4|+|14|1475|c.1348C>T|c.(1348-1350)Cga>Tga|p.R450*|0.5860349127182045|GGAGCTGCACCGAGACCTCAC|RNF207_ENST00000377948.2_THREE_PRIME_UTR/RNF207_ENST00000483336.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC128237|NM_207396.2|NP_997279.2|HGNC:32947|ring_%20_finger_%20_protein_%20_207|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf188|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_188"|FLJ46380_%2C__%20_FLJ32096|"OTTHUMG00000001089"|1p36.31|2015-08-25|||AK128246||388591|ENSG00000158286||NM_207396|58|Ring_%20_finger_%20_proteins|CCDS59|OTTHUMG00000001089|388591|616923|NM_207396|Q6ZRF8|ENSG00000158286|uc001amg.4|RN207_HUMAN||A2VCM8_%7C_B4DFR6_%7C_Q5TGS6_%7C_Q6ZS63_%7C_Q96MP2|Q6ZRF8||intracellular_%20_(GO:0005622)|zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6272793 exm1853088 G A . PASS FUNCOTATION=[RNF207|hg19|chr1|6272793|6272793|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:6272793G>A|ENST00000377939.4|+|15|1661|c.1534G>A|c.(1534-1536)Gcc>Acc|p.A512T|0.5261845386533666|GATTTATGAAGGTTCCAGACA|RNF207_ENST00000377948.2_THREE_PRIME_UTR/RNF207_ENST00000483336.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC128237|NM_207396.2|NP_997279.2|HGNC:32947|ring_%20_finger_%20_protein_%20_207|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf188|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_188"|FLJ46380_%2C__%20_FLJ32096|"OTTHUMG00000001089"|1p36.31|2015-08-25|||AK128246||388591|ENSG00000158286||NM_207396|58|Ring_%20_finger_%20_proteins|CCDS59|OTTHUMG00000001089|388591|616923|NM_207396|Q6ZRF8|ENSG00000158286|uc001amg.4|RN207_HUMAN||A2VCM8_%7C_B4DFR6_%7C_Q5TGS6_%7C_Q6ZS63_%7C_Q96MP2|Q6ZRF8||intracellular_%20_(GO:0005622)|zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6296998 psy_rs12135309 C T . PASS FUNCOTATION=[ICMT|hg19|chr1|6296998|6296998|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:6296998C>T|ENST00000343813.5|-||||||0.543640897755611|CCCGCCACTGCGCCCGTCTTA|ICMT_ENST00000362035.3_FIVE_PRIME_FLANK/LINC00337_ENST00000441724.1_RNA/LINC00337_ENST00000429480.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR541711|NM_012405.3|NP_036537.1|HGNC:5350|isoprenylcysteine_%20_carboxyl_%20_methyltransferase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||PCCMT_%2C__%20_HSTE14_%2C__%20_PPMT|"protein-S-isoprenylcysteine_%20_O-methyltransferase"|1p36.31|2016-10-05|||AF064084|2.1.1.100|23463|ENSG00000116237|9614111_%2C__%20_10441503|NM_012405|||CCDS61|OTTHUMG00000001254|23463|605851|NM_012405|O60725|ENSG00000116237|uc001amk.4|ICMT_HUMAN||Q6FHT0|O60725|C-terminal_%20_protein_%20_methylation_%20_(GO:0006481)_%7C_cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)_%7C_in_%20_utero_%20_embryonic_%20_development_%20_(GO:0001701)_%7C_liver_%20_development_%20_(GO:0001889)_%7C_multicellular_%20_organism_%20_growth_%20_(GO:0035264)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_protein_%20_targeting_%20_to_%20_membrane_%20_(GO:0006612)_%7C_regulation_%20_of_%20_Ras_%20_protein_%20_signal_%20_transduction_%20_(GO:0046578)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)|cAMP_%20_response_%20_element_%20_binding_%20_protein_%20_binding_%20_(GO:0008140)_%7C_protein_%20_C-terminal_%20_carboxyl_%20_O-methyltransferase_%20_activity_%20_(GO:0003880)_%7C_protein_%20_C-terminal_%20_S-isoprenylcysteine_%20_carboxyl_%20_O-methyltransferase_%20_activity_%20_(GO:0004671)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6308929 psy_rs12568183 C A . PASS FUNCOTATION=[GPR153|hg19|chr1|6308929|6308929|THREE_PRIME_UTR||SNP|C|C|A|g.chr1:6308929C>A|ENST00000377893.2|-|6|||||0.6034912718204489|ACCCTCCCCCCCCCCGAAGGG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR627473|NM_207370.2|NP_997253.2|HGNC:23618|G_%20_protein-coupled_%20_receptor_%20_153|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||PGR1||1p36.31|2015-08-25|||AY255529||387509|ENSG00000158292|12679517||262|G_%20_protein-coupled_%20_receptors_%2C__%20_Class_%20_A_%20_orphans|CCDS64|OTTHUMG00000001272|387509|614269|NM_207370|Q6NV75|ENSG00000158292|uc001amp.2|GP153_HUMAN||Q5TGR5_%7C_Q6AHW8_%7C_Q86SP8|Q6NV75||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6378607 exm2252586 G A . PASS FUNCOTATION=[ACOT7|hg19|chr1|6378607|6378607|SILENT||SNP|G|G|A|g.chr1:6378607G>A|ENST00000377855.2|-|6|834|c.687C>T|c.(685-687)agC>agT|p.S229S|0.5236907730673317|GGTGGATCAAGCTGGACTGGC|ACOT7_ENST00000377845.3_SILENT_p.S199S/ACOT7_ENST00000608083.1_SILENT_p.S187S/ACOT7_ENST00000361521.4_SILENT_p.S219S/ACOT7_ENST00000377842.3_SILENT_p.S178S/ACOT7_ENST00000541130.1_SILENT_p.S199S/ACOT7_ENST00000545482.1_SILENT_p.S114S|GBM(74_%3B_673_%20_1226_%20_4974_%20_11850_%20_13190)||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U91316|NM_181864.2|NP_863654.1|HGNC:24157|acyl-CoA_%20_thioesterase_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||BACH_%2C__%20_ACH1_%2C__%20_ACT_%2C__%20_CTE-II_%2C__%20_LACH1_%2C__%20_MGC1126_%2C__%20_hBACH|"brain_%20_acyl_%20_CoA_%20_hydrolase"|1p36.31|2016-10-05|||AB074417||11332|ENSG00000097021|10578051_%2C__%20_16103133_%2C__%20_16940157|NM_007274|41|Acyl-CoA_%20_thioesterases|CCDS65_%2C__%20_CCDS66_%2C__%20_CCDS67_%2C__%20_CCDS30573|OTTHUMG00000001295|11332|602587|NM_007274|O00154|ENSG00000097021|uc001ams.4|BACH_HUMAN||A8K0K7_%7C_A8K232_%7C_A8K6B8_%7C_A8K837_%7C_B3KQ12_%7C_O43703_%7C_Q53Y78_%7C_Q5JYL2_%7C_Q5JYL3_%7C_Q5JYL4_%7C_Q5JYL5_%7C_Q5JYL6_%7C_Q5TGR4_%7C_Q9UJM9_%7C_Q9Y539_%7C_Q9Y540|O00154|coenzyme_%20_A_%20_biosynthetic_%20_process_%20_(GO:0015937)_%7C_fatty_%20_acid_%20_catabolic_%20_process_%20_(GO:0009062)_%7C_long-chain_%20_fatty-acyl-CoA_%20_catabolic_%20_process_%20_(GO:0036116)_%7C_medium-chain_%20_fatty_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0051792)_%7C_medium-chain_%20_fatty-acyl-CoA_%20_catabolic_%20_process_%20_(GO:0036114)_%7C_palmitic_%20_acid_%20_biosynthetic_%20_process_%20_(GO:1900535)|cell_%20_body_%20_(GO:0044297)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)_%7C_neuron_%20_projection_%20_(GO:0043005)_%7C_nucleus_%20_(GO:0005634)|carboxylic_%20_ester_%20_hydrolase_%20_activity_%20_(GO:0052689)_%7C_fatty-acyl-CoA_%20_binding_%20_(GO:0000062)_%7C_long-chain_%20_fatty_%20_acyl-CoA_%20_binding_%20_(GO:0036042)_%7C_palmitoyl-CoA_%20_hydrolase_%20_activity_%20_(GO:0016290)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6378607 exm9186 G A . PASS FUNCOTATION=[ACOT7|hg19|chr1|6378607|6378607|SILENT||SNP|G|G|A|g.chr1:6378607G>A|ENST00000377855.2|-|6|834|c.687C>T|c.(685-687)agC>agT|p.S229S|0.5236907730673317|GGTGGATCAAGCTGGACTGGC|ACOT7_ENST00000377845.3_SILENT_p.S199S/ACOT7_ENST00000608083.1_SILENT_p.S187S/ACOT7_ENST00000361521.4_SILENT_p.S219S/ACOT7_ENST00000377842.3_SILENT_p.S178S/ACOT7_ENST00000541130.1_SILENT_p.S199S/ACOT7_ENST00000545482.1_SILENT_p.S114S|GBM(74_%3B_673_%20_1226_%20_4974_%20_11850_%20_13190)||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U91316|NM_181864.2|NP_863654.1|HGNC:24157|acyl-CoA_%20_thioesterase_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||BACH_%2C__%20_ACH1_%2C__%20_ACT_%2C__%20_CTE-II_%2C__%20_LACH1_%2C__%20_MGC1126_%2C__%20_hBACH|"brain_%20_acyl_%20_CoA_%20_hydrolase"|1p36.31|2016-10-05|||AB074417||11332|ENSG00000097021|10578051_%2C__%20_16103133_%2C__%20_16940157|NM_007274|41|Acyl-CoA_%20_thioesterases|CCDS65_%2C__%20_CCDS66_%2C__%20_CCDS67_%2C__%20_CCDS30573|OTTHUMG00000001295|11332|602587|NM_007274|O00154|ENSG00000097021|uc001ams.4|BACH_HUMAN||A8K0K7_%7C_A8K232_%7C_A8K6B8_%7C_A8K837_%7C_B3KQ12_%7C_O43703_%7C_Q53Y78_%7C_Q5JYL2_%7C_Q5JYL3_%7C_Q5JYL4_%7C_Q5JYL5_%7C_Q5JYL6_%7C_Q5TGR4_%7C_Q9UJM9_%7C_Q9Y539_%7C_Q9Y540|O00154|coenzyme_%20_A_%20_biosynthetic_%20_process_%20_(GO:0015937)_%7C_fatty_%20_acid_%20_catabolic_%20_process_%20_(GO:0009062)_%7C_long-chain_%20_fatty-acyl-CoA_%20_catabolic_%20_process_%20_(GO:0036116)_%7C_medium-chain_%20_fatty_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0051792)_%7C_medium-chain_%20_fatty-acyl-CoA_%20_catabolic_%20_process_%20_(GO:0036114)_%7C_palmitic_%20_acid_%20_biosynthetic_%20_process_%20_(GO:1900535)|cell_%20_body_%20_(GO:0044297)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)_%7C_neuron_%20_projection_%20_(GO:0043005)_%7C_nucleus_%20_(GO:0005634)|carboxylic_%20_ester_%20_hydrolase_%20_activity_%20_(GO:0052689)_%7C_fatty-acyl-CoA_%20_binding_%20_(GO:0000062)_%7C_long-chain_%20_fatty_%20_acyl-CoA_%20_binding_%20_(GO:0036042)_%7C_palmitoyl-CoA_%20_hydrolase_%20_activity_%20_(GO:0016290)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6409810 exm2233698 C A . PASS FUNCOTATION=[ACOT7|hg19|chr1|6409810|6409810|SPLICE_SITE|MISSENSE|SNP|C|C|A|g.chr1:6409810C>A|ENST00000377855.2|-|2|437|c.290G>T|c.(289-291)gGg>gTg|p.G97V|0.6109725685785536|GACCCTTACCCCGTTCTGGCT|ACOT7_ENST00000377845.3_SPLICE_SITE_p.G67V/ACOT7_ENST00000608083.1_SPLICE_SITE_p.G55V/ACOT7_ENST00000361521.4_SPLICE_SITE_p.G87V/ACOT7_ENST00000377842.3_SPLICE_SITE_p.G46V/ACOT7_ENST00000541130.1_SPLICE_SITE_p.G67V/ACOT7_ENST00000545482.1_INTRON|GBM(74_%3B_673_%20_1226_%20_4974_%20_11850_%20_13190)||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U91316|NM_181864.2|NP_863654.1|HGNC:24157|acyl-CoA_%20_thioesterase_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||BACH_%2C__%20_ACH1_%2C__%20_ACT_%2C__%20_CTE-II_%2C__%20_LACH1_%2C__%20_MGC1126_%2C__%20_hBACH|"brain_%20_acyl_%20_CoA_%20_hydrolase"|1p36.31|2016-10-05|||AB074417||11332|ENSG00000097021|10578051_%2C__%20_16103133_%2C__%20_16940157|NM_007274|41|Acyl-CoA_%20_thioesterases|CCDS65_%2C__%20_CCDS66_%2C__%20_CCDS67_%2C__%20_CCDS30573|OTTHUMG00000001295|11332|602587|NM_007274|O00154|ENSG00000097021|uc001ams.4|BACH_HUMAN||A8K0K7_%7C_A8K232_%7C_A8K6B8_%7C_A8K837_%7C_B3KQ12_%7C_O43703_%7C_Q53Y78_%7C_Q5JYL2_%7C_Q5JYL3_%7C_Q5JYL4_%7C_Q5JYL5_%7C_Q5JYL6_%7C_Q5TGR4_%7C_Q9UJM9_%7C_Q9Y539_%7C_Q9Y540|O00154|coenzyme_%20_A_%20_biosynthetic_%20_process_%20_(GO:0015937)_%7C_fatty_%20_acid_%20_catabolic_%20_process_%20_(GO:0009062)_%7C_long-chain_%20_fatty-acyl-CoA_%20_catabolic_%20_process_%20_(GO:0036116)_%7C_medium-chain_%20_fatty_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0051792)_%7C_medium-chain_%20_fatty-acyl-CoA_%20_catabolic_%20_process_%20_(GO:0036114)_%7C_palmitic_%20_acid_%20_biosynthetic_%20_process_%20_(GO:1900535)|cell_%20_body_%20_(GO:0044297)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)_%7C_neuron_%20_projection_%20_(GO:0043005)_%7C_nucleus_%20_(GO:0005634)|carboxylic_%20_ester_%20_hydrolase_%20_activity_%20_(GO:0052689)_%7C_fatty-acyl-CoA_%20_binding_%20_(GO:0000062)_%7C_long-chain_%20_fatty_%20_acyl-CoA_%20_binding_%20_(GO:0036042)_%7C_palmitoyl-CoA_%20_hydrolase_%20_activity_%20_(GO:0016290)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6529605 exm9556 A G . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6529605|6529605|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:6529605A>G|ENST00000377748.1|-|18|2661|c.2163T>C|c.(2161-2163)ccT>ccC|p.P721P|0.6084788029925187|GCTCCTTACCAGGGTCCCGTA|PLEKHG5_ENST00000340850.5_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000400913.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000377732.1_SPLICE_SITE_p.P681P/PLEKHG5_ENST00000400915.3_SPLICE_SITE_p.P700P/PLEKHG5_ENST00000377728.3_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000377740.3_SPLICE_SITE_p.P721P/PLEKHG5_ENST00000377725.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000544978.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000537245.1_SPLICE_SITE_p.P723P/PLEKHG5_ENST00000377737.2_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000535355.1_SPLICE_SITE_p.P713P/TNFRSF25_ENST00000348333.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000351748.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000351959.5_FIVE_PRIME_FLANK/TNFRSF25_ENST00000356876.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000377782.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000461703.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||304|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_stomach(121)|||||||CH471130|NM_198681.3|NP_941374.2|HGNC:29105|pleckstrin_%20_homology_%20_and_%20_RhoGEF_%20_domain_%20_containing_%20_G5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_G_%20_(with_%20_RhoGef_%20_domain)_%20_member_%20_5"|KIAA0720_%2C__%20_Syx_%2C__%20_GEF720_%2C__%20_Tech|"synectin-binding_%20_guanine_%20_exchange_%20_factor"|1p36.31|2017-03-24|2005-08-09|2015-11-18|AK024676||57449|ENSG00000171680|17564964|NM_020631|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS79_%2C__%20_CCDS41240_%2C__%20_CCDS41241_%2C__%20_CCDS57967_%2C__%20_CCDS57968_%2C__%20_CCDS57969|OTTHUMG00000000905|57449|611101|NM_001042663|O94827|ENSG00000171680|uc001anm.3|PKHG5_HUMAN||B3KU07_%7C_B7Z2M3_%7C_B7Z5X2_%7C_F5GZ21_%7C_F5H1I0_%7C_Q5SY17_%7C_Q5T8W5_%7C_Q5T8W9_%7C_Q6ZNM0_%7C_Q7Z436_%7C_Q86YD8_%7C_Q96BS1|O94827|apoptotic_%20_signaling_%20_pathway_%20_(GO:0097190)_%7C_endothelial_%20_cell_%20_chemotaxis_%20_(GO:0035767)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endocytic_%20_vesicle_%20_(GO:0030139)_%7C_lamellipodium_%20_(GO:0030027)_%7C_plasma_%20_membrane_%20_(GO:0005886)|Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|PLEKHG5:57449|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|150807400|6529605|false|true|0|false|0|true|0.997871_%2C_0.00212927|false|false|false|SNV|true|0x050200000305040426000100|1|false|134|rs150807400|] -chr1 6529605 exm9556 A G . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6529605|6529605|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:6529605A>G|ENST00000377748.1|-|18|2661|c.2163T>C|c.(2161-2163)ccT>ccC|p.P721P|0.6084788029925187|GCTCCTTACCAGGGTCCCGTA|PLEKHG5_ENST00000340850.5_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000400913.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000377732.1_SPLICE_SITE_p.P681P/PLEKHG5_ENST00000400915.3_SPLICE_SITE_p.P700P/PLEKHG5_ENST00000377728.3_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000377740.3_SPLICE_SITE_p.P721P/PLEKHG5_ENST00000377725.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000544978.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000537245.1_SPLICE_SITE_p.P723P/PLEKHG5_ENST00000377737.2_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000535355.1_SPLICE_SITE_p.P713P/TNFRSF25_ENST00000348333.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000351748.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000351959.5_FIVE_PRIME_FLANK/TNFRSF25_ENST00000356876.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000377782.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000461703.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||304|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_stomach(121)|||||||CH471130|NM_198681.3|NP_941374.2|HGNC:29105|pleckstrin_%20_homology_%20_and_%20_RhoGEF_%20_domain_%20_containing_%20_G5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_G_%20_(with_%20_RhoGef_%20_domain)_%20_member_%20_5"|KIAA0720_%2C__%20_Syx_%2C__%20_GEF720_%2C__%20_Tech|"synectin-binding_%20_guanine_%20_exchange_%20_factor"|1p36.31|2017-03-24|2005-08-09|2015-11-18|AK024676||57449|ENSG00000171680|17564964|NM_020631|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS79_%2C__%20_CCDS41240_%2C__%20_CCDS41241_%2C__%20_CCDS57967_%2C__%20_CCDS57968_%2C__%20_CCDS57969|OTTHUMG00000000905|57449|611101|NM_001042663|O94827|ENSG00000171680|uc001anm.3|PKHG5_HUMAN||B3KU07_%7C_B7Z2M3_%7C_B7Z5X2_%7C_F5GZ21_%7C_F5H1I0_%7C_Q5SY17_%7C_Q5T8W5_%7C_Q5T8W9_%7C_Q6ZNM0_%7C_Q7Z436_%7C_Q86YD8_%7C_Q96BS1|O94827|apoptotic_%20_signaling_%20_pathway_%20_(GO:0097190)_%7C_endothelial_%20_cell_%20_chemotaxis_%20_(GO:0035767)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endocytic_%20_vesicle_%20_(GO:0030139)_%7C_lamellipodium_%20_(GO:0030027)_%7C_plasma_%20_membrane_%20_(GO:0005886)|Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|PLEKHG5:57449|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|150807400|6529605|false|true|0|false|0|true|0.997871_%2C_0.00212927|false|false|false|SNV|true|0x050200000305040426000100|1|false|134|rs150807400|] -chr1 6534226 exm9636 T C . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6534226|6534226|SPLICE_SITE|INTRON|SNP|T|T|C|g.chr1:6534226T>C|ENST00000377748.1|-|||c.e8+2A>G|c.e8-2||0.6783042394014963|TGGCTGGGGCTGCATGTGGGG|PLEKHG5_ENST00000340850.5_SPLICE_SITE/PLEKHG5_ENST00000400913.1_SPLICE_SITE/PLEKHG5_ENST00000377732.1_SPLICE_SITE/PLEKHG5_ENST00000400915.3_SPLICE_SITE/PLEKHG5_ENST00000377728.3_SPLICE_SITE/PLEKHG5_ENST00000377740.3_SPLICE_SITE/PLEKHG5_ENST00000377725.1_SPLICE_SITE/PLEKHG5_ENST00000544978.1_SPLICE_SITE/PLEKHG5_ENST00000537245.1_SPLICE_SITE/PLEKHG5_ENST00000377737.2_SPLICE_SITE/PLEKHG5_ENST00000535355.1_SPLICE_SITE|||||||||||||||||||||||||304|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_stomach(121)|||||||CH471130|NM_198681.3|NP_941374.2|HGNC:29105|pleckstrin_%20_homology_%20_and_%20_RhoGEF_%20_domain_%20_containing_%20_G5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_G_%20_(with_%20_RhoGef_%20_domain)_%20_member_%20_5"|KIAA0720_%2C__%20_Syx_%2C__%20_GEF720_%2C__%20_Tech|"synectin-binding_%20_guanine_%20_exchange_%20_factor"|1p36.31|2017-03-24|2005-08-09|2015-11-18|AK024676||57449|ENSG00000171680|17564964|NM_020631|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS79_%2C__%20_CCDS41240_%2C__%20_CCDS41241_%2C__%20_CCDS57967_%2C__%20_CCDS57968_%2C__%20_CCDS57969|OTTHUMG00000000905|57449|611101|NM_001042663|O94827|ENSG00000171680|uc001anm.3|PKHG5_HUMAN||B3KU07_%7C_B7Z2M3_%7C_B7Z5X2_%7C_F5GZ21_%7C_F5H1I0_%7C_Q5SY17_%7C_Q5T8W5_%7C_Q5T8W9_%7C_Q6ZNM0_%7C_Q7Z436_%7C_Q86YD8_%7C_Q96BS1|O94827|apoptotic_%20_signaling_%20_pathway_%20_(GO:0097190)_%7C_endothelial_%20_cell_%20_chemotaxis_%20_(GO:0035767)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endocytic_%20_vesicle_%20_(GO:0030139)_%7C_lamellipodium_%20_(GO:0030027)_%7C_plasma_%20_membrane_%20_(GO:0005886)|Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|true|0.9998_%2C_0.0001997|false|false|0||false|false|false|PLEKHG5:57449|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|144750655|6534226|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000200005040436000100|1|false|134|rs144750655|] -chr1 6550505 exm2233725 C T . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6550505|6550505|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:6550505C>T|ENST00000340850.5|-|1|||||0.6633416458852868|CGCGACTCACCTAGGAACAGG|PLEKHG5_ENST00000377725.1_FIVE_PRIME_UTR/PLEKHG5_ENST00000377748.1_INTRON/PLEKHG5_ENST00000377732.1_INTRON/PLEKHG5_ENST00000400915.3_INTRON/PLEKHG5_ENST00000377728.3_INTRON/PLEKHG5_ENST00000377740.3_INTRON/PLEKHG5_ENST00000544978.1_INTRON/PLEKHG5_ENST00000537245.1_INTRON/PLEKHG5_ENST00000377737.2_INTRON/PLEKHG5_ENST00000400913.1_FIVE_PRIME_FLANK/PLEKHG5_ENST00000535355.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||304|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_stomach(121)|||||||CH471130|NM_001265594.1|NP_001252523.1|HGNC:29105|pleckstrin_%20_homology_%20_and_%20_RhoGEF_%20_domain_%20_containing_%20_G5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_G_%20_(with_%20_RhoGef_%20_domain)_%20_member_%20_5"|KIAA0720_%2C__%20_Syx_%2C__%20_GEF720_%2C__%20_Tech|"synectin-binding_%20_guanine_%20_exchange_%20_factor"|1p36.31|2017-03-24|2005-08-09|2015-11-18|AK024676||57449|ENSG00000171680|17564964|NM_020631|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS79_%2C__%20_CCDS41240_%2C__%20_CCDS41241_%2C__%20_CCDS57967_%2C__%20_CCDS57968_%2C__%20_CCDS57969|OTTHUMG00000000905|57449|611101|NM_001042663|O94827|ENSG00000171680|uc001anm.3|PKHG5_HUMAN||B3KU07_%7C_B7Z2M3_%7C_B7Z5X2_%7C_F5GZ21_%7C_F5H1I0_%7C_Q5SY17_%7C_Q5T8W5_%7C_Q5T8W9_%7C_Q6ZNM0_%7C_Q7Z436_%7C_Q86YD8_%7C_Q96BS1|O94827|apoptotic_%20_signaling_%20_pathway_%20_(GO:0097190)_%7C_endothelial_%20_cell_%20_chemotaxis_%20_(GO:0035767)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endocytic_%20_vesicle_%20_(GO:0030139)_%7C_lamellipodium_%20_(GO:0030027)_%7C_plasma_%20_membrane_%20_(GO:0005886)|Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false|0.8051_%2C_0.1949|false|false|1||false|true|true|PLEKHG5:57449|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11806429|6550505|false|false|0|true|0|false|0.824748_%2C_0.175252|false|false|true|SNV|true|0x05010048000517053f000100|1|false|120|rs11806429|] -chr1 6579843 rs1010584 C T . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6579843|6579843|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:6579843C>T|ENST00000377748.1|-|1|||||0.5860349127182045|ACTTCGCAGCCGCCGCTCACA|PLEKHG5_ENST00000377740.3_FIVE_PRIME_UTR/PLEKHG5_ENST00000377737.2_FIVE_PRIME_UTR|||||||||||||||||||||||||304|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_stomach(121)|||||||CH471130|NM_198681.3|NP_941374.2|HGNC:29105|pleckstrin_%20_homology_%20_and_%20_RhoGEF_%20_domain_%20_containing_%20_G5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_G_%20_(with_%20_RhoGef_%20_domain)_%20_member_%20_5"|KIAA0720_%2C__%20_Syx_%2C__%20_GEF720_%2C__%20_Tech|"synectin-binding_%20_guanine_%20_exchange_%20_factor"|1p36.31|2017-03-24|2005-08-09|2015-11-18|AK024676||57449|ENSG00000171680|17564964|NM_020631|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS79_%2C__%20_CCDS41240_%2C__%20_CCDS41241_%2C__%20_CCDS57967_%2C__%20_CCDS57968_%2C__%20_CCDS57969|OTTHUMG00000000905|57449|611101|NM_001042663|O94827|ENSG00000171680|uc001anm.3|PKHG5_HUMAN||B3KU07_%7C_B7Z2M3_%7C_B7Z5X2_%7C_F5GZ21_%7C_F5H1I0_%7C_Q5SY17_%7C_Q5T8W5_%7C_Q5T8W9_%7C_Q6ZNM0_%7C_Q7Z436_%7C_Q86YD8_%7C_Q96BS1|O94827|apoptotic_%20_signaling_%20_pathway_%20_(GO:0097190)_%7C_endothelial_%20_cell_%20_chemotaxis_%20_(GO:0035767)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endocytic_%20_vesicle_%20_(GO:0030139)_%7C_lamellipodium_%20_(GO:0030027)_%7C_plasma_%20_membrane_%20_(GO:0005886)|Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false|0.2646_%2C_0.7354|false|false|1||false|true|false|PLEKHG5:57449|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|1010584|6579843|false|false|0|true|0|false|0.306271_%2C_0.693729|false|false|true|SNV|true|0x05010040000515053f000100|1|false|86|rs1010584|] -chr1 6592659 newrs146978611 G A . PASS FUNCOTATION=[NOL9|hg19|chr1|6592659|6592659|NONSENSE||SNP|G|G|A|g.chr1:6592659G>A|ENST00000377705.5|-|8|1432|c.1399C>T|c.(1399-1401)Cga>Tga|p.R467*|0.44139650872817954|CTGAAACGTCGATTTCTCATC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112278|NM_024654.4|NP_078930.3|HGNC:26265|nucleolar_%20_protein_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ23323_%2C__%20_NET6_%2C__%20_Grc3|"polynucleotide_%20_5'-kinase"|1p36.31|2014-11-19|||AK091284||79707|ENSG00000162408|21063389|NM_024654|1301|5FMC_%20_ribosome_%20_biogenesis_%20_complex|CCDS80|OTTHUMG00000000904|79707||NM_024654|Q5SY16|ENSG00000162408|uc001ans.4|NOL9_HUMAN||Q2NL84_%7C_Q4VBY3_%7C_Q6P472_%7C_Q7L4D6_%7C_Q96EE0_%7C_Q9H5L4|Q5SY16|maturation_%20_of_%20_5.8S_%20_rRNA_%20_(GO:0000460)|membrane_%20_(GO:0016020)_%7C_nucleolus_%20_(GO:0005730)|ATP_%20_binding_%20_(GO:0005524)_%7C_polynucleotide_%20_5'-hydroxyl-kinase_%20_activity_%20_(GO:0051731)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6615467 exm9789 C T . PASS FUNCOTATION=[TAS1R1|hg19|chr1|6615467|6615467|NONSENSE||SNP|C|C|T|g.chr1:6615467C>T|ENST00000333172.6|+|1|227|c.34C>T|c.(34-36)Cag>Tag|p.Q12*|0.6134663341645885|GGTCGGCCTGCAGCTTCTCAT|TAS1R1_ENST00000351136.3_NONSENSE_p.Q12*/TAS1R1_ENST00000328191.4_NONSENSE_p.Q12*/NOL9_ENST00000377705.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BK000153|NM_138697.3|NP_619642.2|HGNC:14448|taste_%20_1_%20_receptor_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GPR70|"G_%20_protein-coupled_%20_receptor_%20_70"_%2C__%20_"taste_%20_receptor_%2C__%20_type_%20_1_%2C__%20_member_%20_1"|T1R1_%2C__%20_TR1||1p36.31|2015-12-16||2015-12-16|||80835|ENSG00000173662|12856281_%2C__%20_11894099|NM_138697|1161|Taste_%20_1_%20_receptors|CCDS81_%2C__%20_CCDS82|OTTHUMG00000001441|80835|606225|NM_138697|Q7RTX1|ENSG00000173662|uc001ant.4|TS1R1_HUMAN||B2RMX0_%7C_Q5SY22_%7C_Q5SY24_%7C_Q8NGZ7_%7C_Q8TDJ7_%7C_Q8TDJ8_%7C_Q8TDJ9_%7C_Q8TDK0|Q7RTX1|detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050912)_%7C_sensory_%20_perception_%20_of_%20_umami_%20_taste_%20_(GO:0050917)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|protein_%20_heterodimerization_%20_activity_%20_(GO:0046982)_%7C_taste_%20_receptor_%20_activity_%20_(GO:0008527)||||true|false|0.9978_%2C_0.002196|false|false|1||false|false|false|TAS1R1:80835_%7C_NOL9:79707|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|149094445|6615467|false|false|0|false|0|true|0.99739_%2C_0.00261007|false|false|false|SNV|true|0x050000020705040436000100|1|false|134|rs149094445|] -chr1 6635345 indel.549 TC T . PASS FUNCOTATION=[TAS1R1|hg19|chr1|6635346|6635346|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:6635346delC|ENST00000333172.6|+|3|1346|c.1154delC|c.(1153-1155)tctfs|p.S385fs|0.600997506234414|TCCATGAGTTCTGCCTACAAC|TAS1R1_ENST00000351136.3_INTRON/TAS1R1_ENST00000328191.4_FRAME_SHIFT_DEL_p.S385fs/ZBTB48_ENST00000377674.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BK000153|NM_138697.3|NP_619642.2|HGNC:14448|taste_%20_1_%20_receptor_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GPR70|"G_%20_protein-coupled_%20_receptor_%20_70"_%2C__%20_"taste_%20_receptor_%2C__%20_type_%20_1_%2C__%20_member_%20_1"|T1R1_%2C__%20_TR1||1p36.31|2015-12-16||2015-12-16|||80835|ENSG00000173662|12856281_%2C__%20_11894099|NM_138697|1161|Taste_%20_1_%20_receptors|CCDS81_%2C__%20_CCDS82|OTTHUMG00000001441|80835|606225|NM_138697|Q7RTX1|ENSG00000173662|uc001ant.4|TS1R1_HUMAN||B2RMX0_%7C_Q5SY22_%7C_Q5SY24_%7C_Q8NGZ7_%7C_Q8TDJ7_%7C_Q8TDJ8_%7C_Q8TDJ9_%7C_Q8TDK0|Q7RTX1|detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050912)_%7C_sensory_%20_perception_%20_of_%20_umami_%20_taste_%20_(GO:0050917)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|protein_%20_heterodimerization_%20_activity_%20_(GO:0046982)_%7C_taste_%20_receptor_%20_activity_%20_(GO:0008527)||||true|false||false|false|||false|false|false|TAS1R1:80835|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|867182312|6635346|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|147|rs867182312|] -chr1 6635448 exm9863 G A . PASS FUNCOTATION=[TAS1R1|hg19|chr1|6635448|6635448|NONSENSE||SNP|G|G|A|g.chr1:6635448G>A|ENST00000333172.6|+|3|1449|c.1256G>A|c.(1255-1257)tGg>tAg|p.W419*|0.5511221945137157|GTCTACCCCTGGCAGGTAAGA|TAS1R1_ENST00000351136.3_INTRON/TAS1R1_ENST00000328191.4_NONSENSE_p.W419*/ZBTB48_ENST00000377674.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BK000153|NM_138697.3|NP_619642.2|HGNC:14448|taste_%20_1_%20_receptor_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GPR70|"G_%20_protein-coupled_%20_receptor_%20_70"_%2C__%20_"taste_%20_receptor_%2C__%20_type_%20_1_%2C__%20_member_%20_1"|T1R1_%2C__%20_TR1||1p36.31|2015-12-16||2015-12-16|||80835|ENSG00000173662|12856281_%2C__%20_11894099|NM_138697|1161|Taste_%20_1_%20_receptors|CCDS81_%2C__%20_CCDS82|OTTHUMG00000001441|80835|606225|NM_138697|Q7RTX1|ENSG00000173662|uc001ant.4|TS1R1_HUMAN||B2RMX0_%7C_Q5SY22_%7C_Q5SY24_%7C_Q8NGZ7_%7C_Q8TDJ7_%7C_Q8TDJ8_%7C_Q8TDJ9_%7C_Q8TDK0|Q7RTX1|detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050912)_%7C_sensory_%20_perception_%20_of_%20_umami_%20_taste_%20_(GO:0050917)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|protein_%20_heterodimerization_%20_activity_%20_(GO:0046982)_%7C_taste_%20_receptor_%20_activity_%20_(GO:0008527)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|TAS1R1:80835|false|true|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|140193828|6635448|false|true|0|false|0|false|0.999141_%2C_0.000858575|false|false|false|SNV|true|0x050200080605040436000100|1|false|134|rs140193828|] -chr1 6639436 exm9930 G A . PASS FUNCOTATION=[TAS1R1|hg19|chr1|6639436|6639436|NONSENSE||SNP|G|G|A|g.chr1:6639436G>A|ENST00000333172.6|+|6|2511|c.2318G>A|c.(2317-2319)tGg>tAg|p.W773*|0.5760598503740648|TTCGTGTCCTGGATCGCCTTC|TAS1R1_ENST00000351136.3_NONSENSE_p.W519*/TAS1R1_ENST00000328191.4_THREE_PRIME_UTR/ZBTB48_ENST00000377674.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BK000153|NM_138697.3|NP_619642.2|HGNC:14448|taste_%20_1_%20_receptor_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GPR70|"G_%20_protein-coupled_%20_receptor_%20_70"_%2C__%20_"taste_%20_receptor_%2C__%20_type_%20_1_%2C__%20_member_%20_1"|T1R1_%2C__%20_TR1||1p36.31|2015-12-16||2015-12-16|||80835|ENSG00000173662|12856281_%2C__%20_11894099|NM_138697|1161|Taste_%20_1_%20_receptors|CCDS81_%2C__%20_CCDS82|OTTHUMG00000001441|80835|606225|NM_138697|Q7RTX1|ENSG00000173662|uc001ant.4|TS1R1_HUMAN||B2RMX0_%7C_Q5SY22_%7C_Q5SY24_%7C_Q8NGZ7_%7C_Q8TDJ7_%7C_Q8TDJ8_%7C_Q8TDJ9_%7C_Q8TDK0|Q7RTX1|detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050912)_%7C_sensory_%20_perception_%20_of_%20_umami_%20_taste_%20_(GO:0050917)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|protein_%20_heterodimerization_%20_activity_%20_(GO:0046982)_%7C_taste_%20_receptor_%20_activity_%20_(GO:0008527)||||true|false|0.9986_%2C_0.001398|false|false|1||false|false|false|TAS1R1:80835_%7C_ZBTB48:3104|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|115030111|6639436|false|false|0|false|0|false|0.999004_%2C_0.000995948|false|false|false|SNV|true|0x050000020605040436000100|1|false|132|rs115030111|] -chr1 6647283 variant.558 C T . PASS FUNCOTATION=[ZBTB48|hg19|chr1|6647283|6647283|NONSENSE||SNP|C|C|T|g.chr1:6647283C>T|ENST00000377674.4|+|6|1314|c.1156C>T|c.(1156-1158)Cag>Tag|p.Q386*|0.5960099750623441|CTGCTCCCAGCAGTTCATGCA||Esophageal_%20_Squamous(125_%3B_1449_%20_1657_%20_4031_%20_29866_%20_49542)||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U45325|NM_005341.3|NP_005332.1|HGNC:4930|zinc_%20_finger_%20_and_%20_BTB_%20_domain_%20_containing_%20_48|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HKR3|"GLI-Kruppel_%20_family_%20_member_%20_HKR3"|ZNF855_%2C__%20_TZAP|"telomeric_%20_zinc_%20_finger-associated_%20_protein"|1p36.31|2017-06-06|2006-09-20|2006-09-20|BC013573||3104|ENSG00000204859|2850480_%2C__%20_8661141_%2C__%20_28082411|NM_005341|861_%7C_28|BTB_%20_domain_%20_containing_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS84|OTTHUMG00000001438|3104|165270|NM_001278647|P10074|ENSG00000204859|uc001anx.5|ZBT48_HUMAN||Q5SY19|P10074|transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6690413 variant.571 G A . PASS FUNCOTATION=[THAP3|hg19|chr1|6690413|6690413|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:6690413G>A|ENST00000054650.4|+|4|491|c.333G>A|c.(331-333)aaG>aaA|p.K111K|0.5386533665835411|AGAAAGAAAAGGTGAGTGCAC|THAP3_ENST00000377627.3_SPLICE_SITE_p.K111K/THAP3_ENST00000307896.6_SPLICE_SITE_p.K110K|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC092427|NM_001195753.1|NP_001182682.1|HGNC:20855|THAP_%20_domain_%20_containing_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"THAP_%20_domain_%20_containing_%2C__%20_apoptosis_%20_associated_%20_protein_%20_3"|||1p36.31|2016-10-05||2016-05-16|BC022081||90326|ENSG00000041988|12575992|NM_138350|65|THAP_%20_domain_%20_containing|CCDS86_%2C__%20_CCDS55572_%2C__%20_CCDS55573|OTTHUMG00000001440|90326|612532|NM_001195752|Q8WTV1|ENSG00000041988|uc001aoe.3|THAP3_HUMAN||Q569K1_%7C_Q5TH66_%7C_Q5TH67_%7C_Q8N8T6_%7C_Q9BSC7_%7C_Q9Y3H2_%7C_Q9Y3H3|Q8WTV1|||DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6690413 variant.571 G A . PASS FUNCOTATION=[THAP3|hg19|chr1|6690413|6690413|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:6690413G>A|ENST00000054650.4|+|4|491|c.333G>A|c.(331-333)aaG>aaA|p.K111K|0.5386533665835411|AGAAAGAAAAGGTGAGTGCAC|THAP3_ENST00000377627.3_SPLICE_SITE_p.K111K/THAP3_ENST00000307896.6_SPLICE_SITE_p.K110K|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC092427|NM_001195753.1|NP_001182682.1|HGNC:20855|THAP_%20_domain_%20_containing_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"THAP_%20_domain_%20_containing_%2C__%20_apoptosis_%20_associated_%20_protein_%20_3"|||1p36.31|2016-10-05||2016-05-16|BC022081||90326|ENSG00000041988|12575992|NM_138350|65|THAP_%20_domain_%20_containing|CCDS86_%2C__%20_CCDS55572_%2C__%20_CCDS55573|OTTHUMG00000001440|90326|612532|NM_001195752|Q8WTV1|ENSG00000041988|uc001aoe.3|THAP3_HUMAN||Q569K1_%7C_Q5TH66_%7C_Q5TH67_%7C_Q8N8T6_%7C_Q9BSC7_%7C_Q9Y3H2_%7C_Q9Y3H3|Q8WTV1|||DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6694207 rs12727844 A G . PASS FUNCOTATION=[THAP3|hg19|chr1|6694207|6694207|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:6694207A>G|ENST00000377627.3|+|5|||||0.5236907730673317|TGAACACACAATACACGGAAG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC092427|NM_138350.3|NP_612359.2|HGNC:20855|THAP_%20_domain_%20_containing_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"THAP_%20_domain_%20_containing_%2C__%20_apoptosis_%20_associated_%20_protein_%20_3"|||1p36.31|2016-10-05||2016-05-16|BC022081||90326|ENSG00000041988|12575992|NM_138350|65|THAP_%20_domain_%20_containing|CCDS86_%2C__%20_CCDS55572_%2C__%20_CCDS55573|OTTHUMG00000001440|90326|612532|NM_001195752|Q8WTV1|ENSG00000041988|uc001aoe.3|THAP3_HUMAN||Q569K1_%7C_Q5TH66_%7C_Q5TH67_%7C_Q8N8T6_%7C_Q9BSC7_%7C_Q9Y3H2_%7C_Q9Y3H3|Q8WTV1|||DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6695123 rs1043681 C T . PASS FUNCOTATION=[DNAJC11|hg19|chr1|6695123|6695123|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:6695123C>T|ENST00000377577.5|-|16|||||0.571072319201995|GGTGGAATGACTTGAGCAGCT|THAP3_ENST00000377627.3_THREE_PRIME_UTR/DNAJC11_ENST00000349363.6_INTRON/DNAJC11_ENST00000465508.1_INTRON|||||||||||||||||||||||||184|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC014145|NM_018198.3|NP_060668.2|HGNC:25570|DnaJ_%20_heat_%20_shock_%20_protein_%20_family_%20_(Hsp40)_%20_member_%20_C11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DnaJ_%20_(Hsp40)_%20_homolog_%2C__%20_subfamily_%20_C_%2C__%20_member_%20_11"|FLJ10737||1p36.31|2016-10-05||2015-11-19|AF306695||55735|ENSG00000007923|12964007|NM_018198|584|DNAJ_%20_(HSP40)_%20_heat_%20_shock_%20_proteins|CCDS87|OTTHUMG00000001443|55735|614827|NM_018198|Q9NVH1|ENSG00000007923|uc001aof.3|DJC11_HUMAN||Q4VWF5_%7C_Q5VZN0_%7C_Q6PK20_%7C_Q6PK70_%7C_Q8NDM2_%7C_Q96CL7|Q9NVH1||extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 6785946 psy_rs4390192 G T . PASS FUNCOTATION=[RP11-242F24.1|hg19|chr1|6785946|6785946|LINCRNA||SNP|G|G|T|g.chr1:6785946G>T|ENST00000432429.1|+|||c.e2-51G>T|||0.5187032418952618|TATGTCTGTTGCACCCCAATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 7826559 var_1_7826559 C T . PASS FUNCOTATION=[CAMTA1|hg19|chr1|7826559|7826559|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:7826559C>T|ENST00000303635.7|+|23|||||0.4139650872817955|TGAAGACATACAGCAGCATCC|CAMTA1_ENST00000476864.1_NONSENSE_p.Q231*/CAMTA1_ENST00000439411.2_NONSENSE_p.Q1653*/VAMP3_ENST00000054666.6_FIVE_PRIME_FLANK||calmodulin_%20_binding_%20_transcription_%20_activator_%20_1|611501|1|1p36.31-p36.23|yes||epitheliod_%20_hemangioendothelioma|||M|Dom|T|WWTR1|||||||||||124|biliary_tract(27)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||Z98884|NM_015215.2|NP_056030.1|HGNC:18806|calmodulin_%20_binding_%20_transcription_%20_activator_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA0833||1p36.31-p36.23|2017-06-08|||AB020640||23261|ENSG00000171735|11925432|NM_015215|||CCDS30576_%2C__%20_CCDS55574_%2C__%20_CCDS55575|OTTHUMG00000001212|23261|611501|NM_001195563|Q9Y6Y1|ENSG00000171735|uc001aoi.3|CMTA1_HUMAN||A7MBM4_%7C_G3V3Z7_%7C_Q5VUE1_%7C_Q6V701_%7C_Q8WYI3_%7C_Q96S92|Q9Y6Y1|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 7838228 exm10611 C T . PASS FUNCOTATION=[VAMP3|hg19|chr1|7838228|7838228|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:7838228C>T|ENST00000470357.1|+|4|772|c.198C>T|c.(196-198)atC>atT|p.I66I|0.3865336658354115|TCATCATCATCGGTGAGTTAC|VAMP3_ENST00000054666.6_SPLICE_SITE_p.I94I|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:12644|vesicle_%20_associated_%20_membrane_%20_protein_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CEB|"cellubrevin"|1p36.23|2015-11-05||2015-11-05|BC003570||9341|ENSG00000049245|9885218|NM_004781|12|Vesicle_%20_associated_%20_membrane_%20_proteins|CCDS88|OTTHUMG00000001225|9341|603657|NM_004781|Q15836|ENSG00000049245|uc001aol.3|VAMP3_HUMAN||Q9BRV4|Q15836|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_exocytosis_%20_(GO:0006887)_%7C_Golgi_%20_to_%20_plasma_%20_membrane_%20_protein_%20_transport_%20_(GO:0043001)_%7C_membrane_%20_fusion_%20_(GO:0061025)_%7C_positive_%20_regulation_%20_of_%20_receptor_%20_recycling_%20_(GO:0001921)_%7C_protein_%20_complex_%20_assembly_%20_(GO:0006461)_%7C_retrograde_%20_transport_%2C__%20_endosome_%20_to_%20_Golgi_%20_(GO:0042147)_%7C_SNARE_%20_complex_%20_assembly_%20_(GO:0035493)_%7C_substrate_%20_adhesion-dependent_%20_cell_%20_spreading_%20_(GO:0034446)_%7C_vesicle_%20_docking_%20_involved_%20_in_%20_exocytosis_%20_(GO:0006904)_%7C_vesicle-mediated_%20_transport_%20_(GO:0016192)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_clathrin-coated_%20_vesicle_%20_membrane_%20_(GO:0030665)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_neuron_%20_projection_%20_(GO:0043005)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_recycling_%20_endosome_%20_(GO:0055037)_%7C_secretory_%20_granule_%20_(GO:0030141)_%7C_SNARE_%20_complex_%20_(GO:0031201)_%7C_synapse_%20_(GO:0045202)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 7838228 exm10611 C T . PASS FUNCOTATION=[VAMP3|hg19|chr1|7838228|7838228|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:7838228C>T|ENST00000470357.1|+|4|772|c.198C>T|c.(196-198)atC>atT|p.I66I|0.3865336658354115|TCATCATCATCGGTGAGTTAC|VAMP3_ENST00000054666.6_SPLICE_SITE_p.I94I|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:12644|vesicle_%20_associated_%20_membrane_%20_protein_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CEB|"cellubrevin"|1p36.23|2015-11-05||2015-11-05|BC003570||9341|ENSG00000049245|9885218|NM_004781|12|Vesicle_%20_associated_%20_membrane_%20_proteins|CCDS88|OTTHUMG00000001225|9341|603657|NM_004781|Q15836|ENSG00000049245|uc001aol.3|VAMP3_HUMAN||Q9BRV4|Q15836|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_exocytosis_%20_(GO:0006887)_%7C_Golgi_%20_to_%20_plasma_%20_membrane_%20_protein_%20_transport_%20_(GO:0043001)_%7C_membrane_%20_fusion_%20_(GO:0061025)_%7C_positive_%20_regulation_%20_of_%20_receptor_%20_recycling_%20_(GO:0001921)_%7C_protein_%20_complex_%20_assembly_%20_(GO:0006461)_%7C_retrograde_%20_transport_%2C__%20_endosome_%20_to_%20_Golgi_%20_(GO:0042147)_%7C_SNARE_%20_complex_%20_assembly_%20_(GO:0035493)_%7C_substrate_%20_adhesion-dependent_%20_cell_%20_spreading_%20_(GO:0034446)_%7C_vesicle_%20_docking_%20_involved_%20_in_%20_exocytosis_%20_(GO:0006904)_%7C_vesicle-mediated_%20_transport_%20_(GO:0016192)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_clathrin-coated_%20_vesicle_%20_membrane_%20_(GO:0030665)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_neuron_%20_projection_%20_(GO:0043005)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_recycling_%20_endosome_%20_(GO:0055037)_%7C_secretory_%20_granule_%20_(GO:0030141)_%7C_SNARE_%20_complex_%20_(GO:0031201)_%7C_synapse_%20_(GO:0045202)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 7838230 variant.587 G T . PASS FUNCOTATION=[VAMP3|hg19|chr1|7838230|7838230|SPLICE_SITE|INTRON|SNP|G|G|T|g.chr1:7838230G>T|ENST00000470357.1|+|||c.e4+1G>T|c.e4+1||0.3865336658354115|ATCATCATCGGTGAGTTACCC|VAMP3_ENST00000054666.6_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:12644|vesicle_%20_associated_%20_membrane_%20_protein_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CEB|"cellubrevin"|1p36.23|2015-11-05||2015-11-05|BC003570||9341|ENSG00000049245|9885218|NM_004781|12|Vesicle_%20_associated_%20_membrane_%20_proteins|CCDS88|OTTHUMG00000001225|9341|603657|NM_004781|Q15836|ENSG00000049245|uc001aol.3|VAMP3_HUMAN||Q9BRV4|Q15836|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_exocytosis_%20_(GO:0006887)_%7C_Golgi_%20_to_%20_plasma_%20_membrane_%20_protein_%20_transport_%20_(GO:0043001)_%7C_membrane_%20_fusion_%20_(GO:0061025)_%7C_positive_%20_regulation_%20_of_%20_receptor_%20_recycling_%20_(GO:0001921)_%7C_protein_%20_complex_%20_assembly_%20_(GO:0006461)_%7C_retrograde_%20_transport_%2C__%20_endosome_%20_to_%20_Golgi_%20_(GO:0042147)_%7C_SNARE_%20_complex_%20_assembly_%20_(GO:0035493)_%7C_substrate_%20_adhesion-dependent_%20_cell_%20_spreading_%20_(GO:0034446)_%7C_vesicle_%20_docking_%20_involved_%20_in_%20_exocytosis_%20_(GO:0006904)_%7C_vesicle-mediated_%20_transport_%20_(GO:0016192)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_clathrin-coated_%20_vesicle_%20_membrane_%20_(GO:0030665)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_neuron_%20_projection_%20_(GO:0043005)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_recycling_%20_endosome_%20_(GO:0055037)_%7C_secretory_%20_granule_%20_(GO:0030141)_%7C_SNARE_%20_complex_%20_(GO:0031201)_%7C_synapse_%20_(GO:0045202)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 7846779 newrs143519087 A G . PASS FUNCOTATION=[PER3|hg19|chr1|7846779|7846779|SPLICE_SITE|INTRON|SNP|A|A|G|g.chr1:7846779A>G|ENST00000377532.3|+|||c.e3-2A>G|c.e3-2||0.38902743142144636|TGTGTTTCTTAGCAAACAGTG|PER3_ENST00000361923.2_SPLICE_SITE/PER3_ENST00000377541.1_SPLICE_SITE|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:8847|period_%20_circadian_%20_regulator_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"period_%20_(Drosophila)_%20_homolog_%20_3"_%2C__%20_"period_%20_homolog_%20_3_%20_(Drosophila)"_%2C__%20_"period_%20_circadian_%20_clock_%20_3"|||1p36.23|2017-10-02||2017-10-02|BC026102||8863|ENSG00000049246|9427249|NM_016831|||CCDS89_%2C__%20_CCDS72695_%2C__%20_CCDS76097|OTTHUMG00000001216|8863|603427|NM_001289861|P56645|ENSG00000049246|uc057bxs.1|PER3_HUMAN||Q5H8X4_%7C_Q5H8X5_%7C_Q969K6_%7C_Q96S77_%7C_Q96S78_%7C_Q9C0J3_%7C_Q9NSP9_%7C_Q9UGU8|P56645|circadian_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0032922)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_sleep_%20_(GO:0045187)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|true||false|false|||false|false|false|PER3:8863|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|143519087|7846779|false|false|0|false|0|false||false|false|false|SNV|false|0x0500002a0005000402000100|1|false|134|rs143519087|] -chr1 7854011 indel.591 TTCTA T . PASS FUNCOTATION=[PER3|hg19|chr1|7854012|7854015|SPLICE_SITE|INTRON|DEL|TCTA|TCTA|-|g.chr1:7854012_7854015delTCTA|ENST00000377532.3|+|||c.e5-6TTCTA>T|c.e5-5||0.400990099009901|CATCTTTCTTTCTAGCAGCTGCAC|PER3_ENST00000361923.2_INTRON/PER3_ENST00000377541.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:8847|period_%20_circadian_%20_regulator_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"period_%20_(Drosophila)_%20_homolog_%20_3"_%2C__%20_"period_%20_homolog_%20_3_%20_(Drosophila)"_%2C__%20_"period_%20_circadian_%20_clock_%20_3"|||1p36.23|2017-10-02||2017-10-02|BC026102||8863|ENSG00000049246|9427249|NM_016831|||CCDS89_%2C__%20_CCDS72695_%2C__%20_CCDS76097|OTTHUMG00000001216|8863|603427|NM_001289861|P56645|ENSG00000049246|uc057bxs.1|PER3_HUMAN||Q5H8X4_%7C_Q5H8X5_%7C_Q969K6_%7C_Q96S77_%7C_Q96S78_%7C_Q9C0J3_%7C_Q9NSP9_%7C_Q9UGU8|P56645|circadian_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0032922)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_sleep_%20_(GO:0045187)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|true||false|false|||false|false|false|PER3:8863|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|773875104|7854012|false|false|0|false|0|false||false|false|false|DIV|false|0x050000280005000402000200|1|false|144|rs773875104|] -chr1 7854068 var_1_7854068 G A . PASS FUNCOTATION=[PER3|hg19|chr1|7854068|7854068|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:7854068G>A|ENST00000377532.3|+|5|868|c.644G>A|c.(643-645)cGt>cAt|p.R215H|0.39650872817955113|TGCAGGATCCGGTAAGTATAG|PER3_ENST00000361923.2_SPLICE_SITE_p.R214H/PER3_ENST00000377541.1_SPLICE_SITE_p.R214H|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:8847|period_%20_circadian_%20_regulator_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"period_%20_(Drosophila)_%20_homolog_%20_3"_%2C__%20_"period_%20_homolog_%20_3_%20_(Drosophila)"_%2C__%20_"period_%20_circadian_%20_clock_%20_3"|||1p36.23|2017-10-02||2017-10-02|BC026102||8863|ENSG00000049246|9427249|NM_016831|||CCDS89_%2C__%20_CCDS72695_%2C__%20_CCDS76097|OTTHUMG00000001216|8863|603427|NM_001289861|P56645|ENSG00000049246|uc057bxs.1|PER3_HUMAN||Q5H8X4_%7C_Q5H8X5_%7C_Q969K6_%7C_Q96S77_%7C_Q96S78_%7C_Q9C0J3_%7C_Q9NSP9_%7C_Q9UGU8|P56645|circadian_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0032922)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_sleep_%20_(GO:0045187)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false||false|false|||false|false|false|PER3:8863|false|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|754053184|7854068|false|false|0|false|0|false||false|false|true|SNV|true|0x050000400a05040002000100|1|false|144|rs754053184|] -chr1 7869953 exm10695 C G . PASS FUNCOTATION=[PER3|hg19|chr1|7869953|7869953|SPLICE_SITE|MISSENSE|SNP|C|C|G|g.chr1:7869953C>G|ENST00000377532.3|+|11|1467|c.1243C>G|c.(1243-1245)Cca>Gca|p.P415A|0.5087281795511222|GTCCTTCCAGCCAGTTCACGT|PER3_ENST00000361923.2_SPLICE_SITE_p.P414A|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:8847|period_%20_circadian_%20_regulator_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"period_%20_(Drosophila)_%20_homolog_%20_3"_%2C__%20_"period_%20_homolog_%20_3_%20_(Drosophila)"_%2C__%20_"period_%20_circadian_%20_clock_%20_3"|||1p36.23|2017-10-02||2017-10-02|BC026102||8863|ENSG00000049246|9427249|NM_016831|||CCDS89_%2C__%20_CCDS72695_%2C__%20_CCDS76097|OTTHUMG00000001216|8863|603427|NM_001289861|P56645|ENSG00000049246|uc057bxs.1|PER3_HUMAN||Q5H8X4_%7C_Q5H8X5_%7C_Q969K6_%7C_Q96S77_%7C_Q96S78_%7C_Q9C0J3_%7C_Q9NSP9_%7C_Q9UGU8|P56645|circadian_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0032922)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_sleep_%20_(GO:0045187)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false|0.9966_%2C_0.003395|false|false|1||false|false|false|PER3:8863|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|false|true|150812083|7869953|false|true|0|false|0|false|0.998042_%2C_0.00195755|false|false|false|SNV|true|0x050228000a05040436000100|1|false|134|rs150812083|] -chr1 7879481 var_1_7879481 G A . PASS FUNCOTATION=[PER3|hg19|chr1|7879481|7879481|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:7879481G>A|ENST00000377532.3|+|||c.e13+1G>A|c.e13+1||0.40399002493765584|GTGTCATCAGGTATGAGACCG|PER3_ENST00000361923.2_SPLICE_SITE/RP3-467L1.4_ENST00000451646.1_RNA|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:8847|period_%20_circadian_%20_regulator_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"period_%20_(Drosophila)_%20_homolog_%20_3"_%2C__%20_"period_%20_homolog_%20_3_%20_(Drosophila)"_%2C__%20_"period_%20_circadian_%20_clock_%20_3"|||1p36.23|2017-10-02||2017-10-02|BC026102||8863|ENSG00000049246|9427249|NM_016831|||CCDS89_%2C__%20_CCDS72695_%2C__%20_CCDS76097|OTTHUMG00000001216|8863|603427|NM_001289861|P56645|ENSG00000049246|uc057bxs.1|PER3_HUMAN||Q5H8X4_%7C_Q5H8X5_%7C_Q969K6_%7C_Q96S77_%7C_Q96S78_%7C_Q9C0J3_%7C_Q9NSP9_%7C_Q9UGU8|P56645|circadian_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0032922)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_sleep_%20_(GO:0045187)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false||false|false|||true|false|false|PER3:8863|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|771451809|7879481|false|false|0|false|0|false||false|false|false|SNV|false|0x050000100005000402000100|1|false|144|rs771451809|] -chr1 7897138 indel.606 CA C . PASS FUNCOTATION=[PER3|hg19|chr1|7897139|7897139|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:7897139delA|ENST00000377532.3|+|20|3702|c.3479delA|c.(3478-3480)caafs|p.K1161fs|0.3940149625935162|TCTCATGGGCAAAAGGAGGAG|PER3_ENST00000361923.2_FRAME_SHIFT_DEL_p.K1152fs|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:8847|period_%20_circadian_%20_regulator_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"period_%20_(Drosophila)_%20_homolog_%20_3"_%2C__%20_"period_%20_homolog_%20_3_%20_(Drosophila)"_%2C__%20_"period_%20_circadian_%20_clock_%20_3"|||1p36.23|2017-10-02||2017-10-02|BC026102||8863|ENSG00000049246|9427249|NM_016831|||CCDS89_%2C__%20_CCDS72695_%2C__%20_CCDS76097|OTTHUMG00000001216|8863|603427|NM_001289861|P56645|ENSG00000049246|uc057bxs.1|PER3_HUMAN||Q5H8X4_%7C_Q5H8X5_%7C_Q969K6_%7C_Q96S77_%7C_Q96S78_%7C_Q9C0J3_%7C_Q9NSP9_%7C_Q9UGU8|P56645|circadian_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0032922)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_sleep_%20_(GO:0045187)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false||false|false|||false|false|false|PER3:8863|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|773961726|7897139|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs773961726|] -chr1 7897180 variant.607 C T . PASS FUNCOTATION=[PER3|hg19|chr1|7897180|7897180|NONSENSE||SNP|C|C|T|g.chr1:7897180C>T|ENST00000377532.3|+|20|3744|c.3520C>T|c.(3520-3522)Cag>Tag|p.Q1174*|0.3940149625935162|GATTCAAAGCCAGACTGTCAC|PER3_ENST00000361923.2_NONSENSE_p.Q1165*|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:8847|period_%20_circadian_%20_regulator_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"period_%20_(Drosophila)_%20_homolog_%20_3"_%2C__%20_"period_%20_homolog_%20_3_%20_(Drosophila)"_%2C__%20_"period_%20_circadian_%20_clock_%20_3"|||1p36.23|2017-10-02||2017-10-02|BC026102||8863|ENSG00000049246|9427249|NM_016831|||CCDS89_%2C__%20_CCDS72695_%2C__%20_CCDS76097|OTTHUMG00000001216|8863|603427|NM_001289861|P56645|ENSG00000049246|uc057bxs.1|PER3_HUMAN||Q5H8X4_%7C_Q5H8X5_%7C_Q969K6_%7C_Q96S77_%7C_Q96S78_%7C_Q9C0J3_%7C_Q9NSP9_%7C_Q9UGU8|P56645|circadian_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0032922)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_sleep_%20_(GO:0045187)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false||false|false|||false|false|false|PER3:8863|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|748839772|7897180|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000605000402000100|1|false|144|rs748839772|] -chr1 7907859 variant.609 C T . PASS FUNCOTATION=[UTS2|hg19|chr1|7907859|7907859|SILENT||SNP|C|C|T|g.chr1:7907859C>T|ENST00000361696.5|-|4|374|c.342G>A|c.(340-342)gaG>gaA|p.E114E|0.35910224438902744|AATCAGGAGTCTCACGTTTCT|UTS2_ENST00000054668.5_SILENT_p.E129E/UTS2_ENST00000377516.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|NM_006786.3|NP_006777.1|HGNC:12636|urotensin_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||UII_%2C__%20_U-II_%2C__%20_UCN2_%2C__%20_PRO1068|"prepro_%20_U-II"|1p36.23|2016-10-05|||AF104118||10911|ENSG00000049247|9861051_%2C__%20_10499587|NM_006786|542|Endogenous_%20_ligands|CCDS90_%2C__%20_CCDS91|OTTHUMG00000001218|10911|604097|NM_006786|O95399|ENSG00000049247|uc001aos.4|UTS2_HUMAN||Q5H8X7_%7C_Q6UXF6_%7C_Q9UKP7|O95399|muscle_%20_contraction_%20_(GO:0006936)_%7C_negative_%20_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0045776)_%7C_negative_%20_regulation_%20_of_%20_glomerular_%20_filtration_%20_(GO:0003105)_%7C_negative_%20_regulation_%20_of_%20_heart_%20_rate_%20_(GO:0010459)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_secretion_%20_(GO:0046676)_%7C_negative_%20_regulation_%20_of_%20_renal_%20_sodium_%20_excretion_%20_(GO:0035814)_%7C_negative_%20_regulation_%20_of_%20_urine_%20_volume_%20_(GO:0035811)_%7C_positive_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0045766)_%7C_positive_%20_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0045777)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045597)_%7C_positive_%20_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_REM_%20_sleep_%20_(GO:0046005)_%7C_positive_%20_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_wakefulness_%20_(GO:0010841)_%7C_positive_%20_regulation_%20_of_%20_collagen_%20_biosynthetic_%20_process_%20_(GO:0032967)_%7C_positive_%20_regulation_%20_of_%20_cytosolic_%20_calcium_%20_ion_%20_concentration_%20_(GO:0007204)_%7C_positive_%20_regulation_%20_of_%20_fibroblast_%20_migration_%20_(GO:0010763)_%7C_positive_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048146)_%7C_positive_%20_regulation_%20_of_%20_heart_%20_rate_%20_(GO:0010460)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_transmission_%2C__%20_cholinergic_%20_(GO:0032224)_%7C_positive_%20_regulation_%20_of_%20_vasodilation_%20_(GO:0045909)_%7C_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_response_%20_to_%20_testosterone_%20_(GO:0033574)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|hormone_%20_activity_%20_(GO:0005179)_%7C_receptor_%20_binding_%20_(GO:0005102)||||true|false||false|false|||false|false|false|UTS2:10911|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|757148544|7907859|false|false|0|false|0|true|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050000000305040402000100|1|false|144|rs757148544|] -chr1 7913430 rs228648 G A . PASS FUNCOTATION=[UTS2|hg19|chr1|7913430|7913430|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr1:7913430G>A|ENST00000377516.2|-|1|||||0.3566084788029925|GCAAAGAGACGTGGATTTATG|UTS2_ENST00000054668.5_MISSENSE_p.T21M/UTS2_ENST00000361696.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:12636|urotensin_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||UII_%2C__%20_U-II_%2C__%20_UCN2_%2C__%20_PRO1068|"prepro_%20_U-II"|1p36.23|2016-10-05|||AF104118||10911|ENSG00000049247|9861051_%2C__%20_10499587|NM_006786|542|Endogenous_%20_ligands|CCDS90_%2C__%20_CCDS91|OTTHUMG00000001218|10911|604097|NM_006786|O95399|ENSG00000049247|uc001aos.4|UTS2_HUMAN||Q5H8X7_%7C_Q6UXF6_%7C_Q9UKP7|O95399|muscle_%20_contraction_%20_(GO:0006936)_%7C_negative_%20_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0045776)_%7C_negative_%20_regulation_%20_of_%20_glomerular_%20_filtration_%20_(GO:0003105)_%7C_negative_%20_regulation_%20_of_%20_heart_%20_rate_%20_(GO:0010459)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_secretion_%20_(GO:0046676)_%7C_negative_%20_regulation_%20_of_%20_renal_%20_sodium_%20_excretion_%20_(GO:0035814)_%7C_negative_%20_regulation_%20_of_%20_urine_%20_volume_%20_(GO:0035811)_%7C_positive_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0045766)_%7C_positive_%20_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0045777)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045597)_%7C_positive_%20_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_REM_%20_sleep_%20_(GO:0046005)_%7C_positive_%20_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_wakefulness_%20_(GO:0010841)_%7C_positive_%20_regulation_%20_of_%20_collagen_%20_biosynthetic_%20_process_%20_(GO:0032967)_%7C_positive_%20_regulation_%20_of_%20_cytosolic_%20_calcium_%20_ion_%20_concentration_%20_(GO:0007204)_%7C_positive_%20_regulation_%20_of_%20_fibroblast_%20_migration_%20_(GO:0010763)_%7C_positive_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048146)_%7C_positive_%20_regulation_%20_of_%20_heart_%20_rate_%20_(GO:0010460)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_transmission_%2C__%20_cholinergic_%20_(GO:0032224)_%7C_positive_%20_regulation_%20_of_%20_vasodilation_%20_(GO:0045909)_%7C_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_response_%20_to_%20_testosterone_%20_(GO:0033574)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|hormone_%20_activity_%20_(GO:0005179)_%7C_receptor_%20_binding_%20_(GO:0005102)||||true|false|0.5216_%2C_0.4784|false|false|1||false|true|true|UTS2:10911|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|true|true|228648|7913430|false|false|0|true|0|false|0.476578_%2C_0.523422|false|false|false|SNV|true|0x050128020a0517053f000101|1|false|79|rs228648|] -chr1 7980338 exm2264984 A G . PASS FUNCOTATION=[TNFRSF9|hg19|chr1|7980338|7980338|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:7980338A>G|ENST00000377507.3|-|8|||||0.3865336658354115|ACTAGCTCAAACCTGTTAAGT||||||||||||||||||||||||||246|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||U03397|NM_001561.5|NP_001552.2|HGNC:11924|TNF_%20_receptor_%20_superfamily_%20_member_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ILA|"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_9"|CD137_%2C__%20_4-1BB||1p36.23|2016-10-05||2016-06-28|L12964||3604|ENSG00000049249|8262389_%2C__%20_8639902||471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS92|OTTHUMG00000001223|3604|602250|NM_001561|Q07011|ENSG00000049249|uc001aot.4|TNR9_HUMAN|||Q07011|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|receptor_%20_activity_%20_(GO:0004872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 7998254 exm10928 T G . PASS FUNCOTATION=[TNFRSF9|hg19|chr1|7998254|7998254|SPLICE_SITE|MISSENSE|SNP|T|T|G|g.chr1:7998254T>G|ENST00000377507.3|-|4|512|c.345A>C|c.(343-345)aaA>aaC|p.K115N|0.3690773067331671|CAAACGTACCTTTTTTTGTCA||||||||||||||||||||||||||246|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||U03397|NM_001561.5|NP_001552.2|HGNC:11924|TNF_%20_receptor_%20_superfamily_%20_member_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ILA|"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_9"|CD137_%2C__%20_4-1BB||1p36.23|2016-10-05||2016-06-28|L12964||3604|ENSG00000049249|8262389_%2C__%20_8639902||471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS92|OTTHUMG00000001223|3604|602250|NM_001561|Q07011|ENSG00000049249|uc001aot.4|TNR9_HUMAN|||Q07011|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|receptor_%20_activity_%20_(GO:0004872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 7998390 exm10934 C T . PASS FUNCOTATION=[TNFRSF9|hg19|chr1|7998390|7998390|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:7998390C>T|ENST00000377507.3|-|4|376|c.209G>A|c.(208-210)gGt>gAt|p.G70D|0.4014962593516209|CCTGAAAACACCTACAAAGTC||||||||||||||||||||||||||246|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||U03397|NM_001561.5|NP_001552.2|HGNC:11924|TNF_%20_receptor_%20_superfamily_%20_member_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ILA|"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_9"|CD137_%2C__%20_4-1BB||1p36.23|2016-10-05||2016-06-28|L12964||3604|ENSG00000049249|8262389_%2C__%20_8639902||471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS92|OTTHUMG00000001223|3604|602250|NM_001561|Q07011|ENSG00000049249|uc001aot.4|TNR9_HUMAN|||Q07011|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|receptor_%20_activity_%20_(GO:0004872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 7999982 variant.617 G A . PASS FUNCOTATION=[TNFRSF9|hg19|chr1|7999982|7999982|NONSENSE||SNP|G|G|A|g.chr1:7999982G>A|ENST00000377507.3|-|2|240|c.73C>T|c.(73-75)Cag>Tag|p.Q25*|0.40399002493765584|CAAGGATCCTGCAATGATCTT||||||||||||||||||||||||||246|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||U03397|NM_001561.5|NP_001552.2|HGNC:11924|TNF_%20_receptor_%20_superfamily_%20_member_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ILA|"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_9"|CD137_%2C__%20_4-1BB||1p36.23|2016-10-05||2016-06-28|L12964||3604|ENSG00000049249|8262389_%2C__%20_8639902||471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS92|OTTHUMG00000001223|3604|602250|NM_001561|Q07011|ENSG00000049249|uc001aot.4|TNR9_HUMAN|||Q07011|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|receptor_%20_activity_%20_(GO:0004872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8021973 exm-rs35675666 G T . PASS FUNCOTATION=[PARK7|hg19|chr1|8021973|8021973|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:8021973G>T|ENST00000377491.1|+|1|||||0.6583541147132169|GCGGGGCCTGGGTCGGGGCCG|PARK7_ENST00000493678.1_INTRON/PARK7_ENST00000338639.5_INTRON/PARK7_ENST00000377493.5_INTRON/PARK7_ENST00000377488.1_FIVE_PRIME_FLANK/PARK7_ENST00000497113.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||D61380|||HGNC:16369|Parkinsonism_%20_associated_%20_deglycase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Parkinson_%20_disease_%20_(autosomal_%20_recessive_%2C__%20_early_%20_onset)_%20_7"_%2C__%20_"parkinson_%20_protein_%20_7"|DJ-1_%2C__%20_DJ1_%2C__%20_GATD2||1p36.23|2017-07-25||2016-02-15|D61380||11315|ENSG00000116288|11462174_%2C__%20_9070310_%2C__%20_25416785_%2C__%20_28596309|NM_007262|672_%7C_1408|Parkinson_%20_disease_%20_associated_%20_genes_%7C_Glutamine_%20_amidotransferase_%20_like_%20_class_%20_1_%20_domain_%20_containing|CCDS93|OTTHUMG00000001210|11315|602533|NM_001123377|Q99497|ENSG00000116288|uc057byc.1|PARK7_HUMAN||B2R4Z1_%7C_O14805_%7C_Q6DR95_%7C_Q7LFU2|Q99497|adult_%20_locomotory_%20_behavior_%20_(GO:0008344)_%7C_autophagy_%20_(GO:0006914)_%7C_cellular_%20_response_%20_to_%20_glyoxal_%20_(GO:0036471)_%7C_cellular_%20_response_%20_to_%20_hydrogen_%20_peroxide_%20_(GO:0070301)_%7C_cellular_%20_response_%20_to_%20_oxidative_%20_stress_%20_(GO:0034599)_%7C_dopamine_%20_uptake_%20_involved_%20_in_%20_synaptic_%20_transmission_%20_(GO:0051583)_%7C_glycolate_%20_biosynthetic_%20_process_%20_(GO:0046295)_%7C_glyoxal_%20_catabolic_%20_process_%20_(GO:1903190)_%7C_hydrogen_%20_peroxide_%20_metabolic_%20_process_%20_(GO:0042743)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_lactate_%20_biosynthetic_%20_process_%20_(GO:0019249)_%7C_membrane_%20_depolarization_%20_(GO:0051899)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_methylglyoxal_%20_catabolic_%20_process_%20_to_%20_D-lactate_%20_(GO:0019243)_%7C_mitochondrion_%20_organization_%20_(GO:0007005)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_death_%20_(GO:0060548)_%7C_negative_%20_regulation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001268)_%7C_negative_%20_regulation_%20_of_%20_death-inducing_%20_signaling_%20_complex_%20_assembly_%20_(GO:1903073)_%7C_negative_%20_regulation_%20_of_%20_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001237)_%7C_negative_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0010629)_%7C_negative_%20_regulation_%20_of_%20_hydrogen_%20_peroxide-induced_%20_cell_%20_death_%20_(GO:1903206)_%7C_negative_%20_regulation_%20_of_%20_hydrogen_%20_peroxide-induced_%20_neuron_%20_death_%20_(GO:1903208)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_death_%20_(GO:1901215)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_cell_%20_death_%20_(GO:1903202)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_neuron_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1903377)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_acetylation_%20_(GO:1901984)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_export_%20_from_%20_nucleus_%20_(GO:0046826)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_K48-linked_%20_deubiquitination_%20_(GO:1903094)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_phosphorylation_%20_(GO:0001933)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_sumoylation_%20_(GO:0033234)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_TRAIL-activated_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1903122)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0051444)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-specific_%20_protease_%20_activity_%20_(GO:2000157)_%7C_positive_%20_regulation_%20_of_%20_androgen_%20_receptor_%20_activity_%20_(GO:2000825)_%7C_positive_%20_regulation_%20_of_%20_dopamine_%20_biosynthetic_%20_process_%20_(GO:1903181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-8_%20_production_%20_(GO:0032757)_%7C_positive_%20_regulation_%20_of_%20_L-dopa_%20_biosynthetic_%20_process_%20_(GO:1903197)_%7C_positive_%20_regulation_%20_of_%20_L-dopa_%20_decarboxylase_%20_activity_%20_(GO:1903200)_%7C_positive_%20_regulation_%20_of_%20_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:1902958)_%7C_positive_%20_regulation_%20_of_%20_oxidative_%20_phosphorylation_%20_uncoupler_%20_activity_%20_(GO:2000277)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_homodimerization_%20_activity_%20_(GO:0090073)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:1900182)_%7C_positive_%20_regulation_%20_of_%20_pyrroline-5-carboxylate_%20_reductase_%20_activity_%20_(GO:1903168)_%7C_positive_%20_regulation_%20_of_%20_superoxide_%20_dismutase_%20_activity_%20_(GO:1901671)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_tyrosine_%20_3-monooxygenase_%20_activity_%20_(GO:1903178)_%7C_protein_%20_stabilization_%20_(GO:0050821)_%7C_regulation_%20_of_%20_androgen_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0060765)_%7C_regulation_%20_of_%20_fibril_%20_organization_%20_(GO:1902903)_%7C_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050727)_%7C_regulation_%20_of_%20_mitochondrial_%20_membrane_%20_potential_%20_(GO:0051881)_%7C_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043523)_%7C_single_%20_fertilization_%20_(GO:0007338)|chromatin_%20_(GO:0000785)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_PML_%20_body_%20_(GO:0016605)|androgen_%20_receptor_%20_binding_%20_(GO:0050681)_%7C_cupric_%20_ion_%20_binding_%20_(GO:1903135)_%7C_cuprous_%20_ion_%20_binding_%20_(GO:1903136)_%7C_cytokine_%20_binding_%20_(GO:0019955)_%7C_enzyme_%20_binding_%20_(GO:0019899)_%7C_glyoxalase_%20_(glycolic_%20_acid-forming)_%20_activity_%20_(GO:1990422)_%7C_glyoxalase_%20_III_%20_activity_%20_(GO:0019172)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_L-dopa_%20_decarboxylase_%20_activator_%20_activity_%20_(GO:0036478)_%7C_mRNA_%20_binding_%20_(GO:0003729)_%7C_oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_peroxide_%20_as_%20_acceptor_%20_(GO:0016684)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_peroxidase_%20_activity_%20_(GO:0004601)_%7C_peroxiredoxin_%20_activity_%20_(GO:0051920)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_receptor_%20_binding_%20_(GO:0005102)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_RNA_%20_binding_%20_(GO:0003723)_%7C_scaffold_%20_protein_%20_binding_%20_(GO:0097110)_%7C_small_%20_protein_%20_activating_%20_enzyme_%20_binding_%20_(GO:0044388)_%7C_small_%20_protein_%20_conjugating_%20_enzyme_%20_binding_%20_(GO:0044390)_%7C_superoxide_%20_dismutase_%20_copper_%20_chaperone_%20_activity_%20_(GO:0016532)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)_%7C_tyrosine_%20_3-monooxygenase_%20_activator_%20_activity_%20_(GO:0036470)_%7C_ubiquitin-specific_%20_protease_%20_binding_%20_(GO:1990381)||||true|false|0.8518_%2C_._%2C_0.1482|false|false|1||false|true|true|PARK7:11315|true|true|true|true|true|false|true|false|false|false|false|false|false|false|false|true|true|false|true|false|35675666|8021973|false|false|0|true|0|false|0.816402_%2C_._%2C_0.183598|false|false|false|SNV|true|0x0501280a0005170537020100|1|false|126|rs35675666|] -chr1 8029464 variant.620 G A . PASS FUNCOTATION=[PARK7|hg19|chr1|8029464|8029464|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:8029464G>A|ENST00000493678.1|+|4|319|c.252G>A|c.(250-252)gaG>gaA|p.E84E|0.3192019950124688|ATTTATCTGAGGTAAAAAATT|PARK7_ENST00000377491.1_SPLICE_SITE_p.E84E/PARK7_ENST00000338639.5_SPLICE_SITE_p.E84E/PARK7_ENST00000377488.1_SPLICE_SITE_p.E84E/PARK7_ENST00000377493.5_INTRON/PARK7_ENST00000497113.1_SPLICE_SITE|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||D61380|||HGNC:16369|Parkinsonism_%20_associated_%20_deglycase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Parkinson_%20_disease_%20_(autosomal_%20_recessive_%2C__%20_early_%20_onset)_%20_7"_%2C__%20_"parkinson_%20_protein_%20_7"|DJ-1_%2C__%20_DJ1_%2C__%20_GATD2||1p36.23|2017-07-25||2016-02-15|D61380||11315|ENSG00000116288|11462174_%2C__%20_9070310_%2C__%20_25416785_%2C__%20_28596309|NM_007262|672_%7C_1408|Parkinson_%20_disease_%20_associated_%20_genes_%7C_Glutamine_%20_amidotransferase_%20_like_%20_class_%20_1_%20_domain_%20_containing|CCDS93|OTTHUMG00000001210|11315|602533|NM_001123377|Q99497|ENSG00000116288|uc057byc.1|PARK7_HUMAN||B2R4Z1_%7C_O14805_%7C_Q6DR95_%7C_Q7LFU2|Q99497|adult_%20_locomotory_%20_behavior_%20_(GO:0008344)_%7C_autophagy_%20_(GO:0006914)_%7C_cellular_%20_response_%20_to_%20_glyoxal_%20_(GO:0036471)_%7C_cellular_%20_response_%20_to_%20_hydrogen_%20_peroxide_%20_(GO:0070301)_%7C_cellular_%20_response_%20_to_%20_oxidative_%20_stress_%20_(GO:0034599)_%7C_dopamine_%20_uptake_%20_involved_%20_in_%20_synaptic_%20_transmission_%20_(GO:0051583)_%7C_glycolate_%20_biosynthetic_%20_process_%20_(GO:0046295)_%7C_glyoxal_%20_catabolic_%20_process_%20_(GO:1903190)_%7C_hydrogen_%20_peroxide_%20_metabolic_%20_process_%20_(GO:0042743)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_lactate_%20_biosynthetic_%20_process_%20_(GO:0019249)_%7C_membrane_%20_depolarization_%20_(GO:0051899)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_methylglyoxal_%20_catabolic_%20_process_%20_to_%20_D-lactate_%20_(GO:0019243)_%7C_mitochondrion_%20_organization_%20_(GO:0007005)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_death_%20_(GO:0060548)_%7C_negative_%20_regulation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001268)_%7C_negative_%20_regulation_%20_of_%20_death-inducing_%20_signaling_%20_complex_%20_assembly_%20_(GO:1903073)_%7C_negative_%20_regulation_%20_of_%20_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001237)_%7C_negative_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0010629)_%7C_negative_%20_regulation_%20_of_%20_hydrogen_%20_peroxide-induced_%20_cell_%20_death_%20_(GO:1903206)_%7C_negative_%20_regulation_%20_of_%20_hydrogen_%20_peroxide-induced_%20_neuron_%20_death_%20_(GO:1903208)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_death_%20_(GO:1901215)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_cell_%20_death_%20_(GO:1903202)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_neuron_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1903377)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_acetylation_%20_(GO:1901984)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_export_%20_from_%20_nucleus_%20_(GO:0046826)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_K48-linked_%20_deubiquitination_%20_(GO:1903094)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_phosphorylation_%20_(GO:0001933)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_sumoylation_%20_(GO:0033234)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_TRAIL-activated_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1903122)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0051444)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-specific_%20_protease_%20_activity_%20_(GO:2000157)_%7C_positive_%20_regulation_%20_of_%20_androgen_%20_receptor_%20_activity_%20_(GO:2000825)_%7C_positive_%20_regulation_%20_of_%20_dopamine_%20_biosynthetic_%20_process_%20_(GO:1903181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-8_%20_production_%20_(GO:0032757)_%7C_positive_%20_regulation_%20_of_%20_L-dopa_%20_biosynthetic_%20_process_%20_(GO:1903197)_%7C_positive_%20_regulation_%20_of_%20_L-dopa_%20_decarboxylase_%20_activity_%20_(GO:1903200)_%7C_positive_%20_regulation_%20_of_%20_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:1902958)_%7C_positive_%20_regulation_%20_of_%20_oxidative_%20_phosphorylation_%20_uncoupler_%20_activity_%20_(GO:2000277)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_homodimerization_%20_activity_%20_(GO:0090073)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:1900182)_%7C_positive_%20_regulation_%20_of_%20_pyrroline-5-carboxylate_%20_reductase_%20_activity_%20_(GO:1903168)_%7C_positive_%20_regulation_%20_of_%20_superoxide_%20_dismutase_%20_activity_%20_(GO:1901671)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_tyrosine_%20_3-monooxygenase_%20_activity_%20_(GO:1903178)_%7C_protein_%20_stabilization_%20_(GO:0050821)_%7C_regulation_%20_of_%20_androgen_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0060765)_%7C_regulation_%20_of_%20_fibril_%20_organization_%20_(GO:1902903)_%7C_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050727)_%7C_regulation_%20_of_%20_mitochondrial_%20_membrane_%20_potential_%20_(GO:0051881)_%7C_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043523)_%7C_single_%20_fertilization_%20_(GO:0007338)|chromatin_%20_(GO:0000785)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_PML_%20_body_%20_(GO:0016605)|androgen_%20_receptor_%20_binding_%20_(GO:0050681)_%7C_cupric_%20_ion_%20_binding_%20_(GO:1903135)_%7C_cuprous_%20_ion_%20_binding_%20_(GO:1903136)_%7C_cytokine_%20_binding_%20_(GO:0019955)_%7C_enzyme_%20_binding_%20_(GO:0019899)_%7C_glyoxalase_%20_(glycolic_%20_acid-forming)_%20_activity_%20_(GO:1990422)_%7C_glyoxalase_%20_III_%20_activity_%20_(GO:0019172)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_L-dopa_%20_decarboxylase_%20_activator_%20_activity_%20_(GO:0036478)_%7C_mRNA_%20_binding_%20_(GO:0003729)_%7C_oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_peroxide_%20_as_%20_acceptor_%20_(GO:0016684)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_peroxidase_%20_activity_%20_(GO:0004601)_%7C_peroxiredoxin_%20_activity_%20_(GO:0051920)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_receptor_%20_binding_%20_(GO:0005102)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_RNA_%20_binding_%20_(GO:0003723)_%7C_scaffold_%20_protein_%20_binding_%20_(GO:0097110)_%7C_small_%20_protein_%20_activating_%20_enzyme_%20_binding_%20_(GO:0044388)_%7C_small_%20_protein_%20_conjugating_%20_enzyme_%20_binding_%20_(GO:0044390)_%7C_superoxide_%20_dismutase_%20_copper_%20_chaperone_%20_activity_%20_(GO:0016532)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)_%7C_tyrosine_%20_3-monooxygenase_%20_activator_%20_activity_%20_(GO:0036470)_%7C_ubiquitin-specific_%20_protease_%20_binding_%20_(GO:1990381)||||true|false||false|false|||false|false|false|PARK7:11315|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|749774196|8029464|false|false|0|false|0|true||false|false|false|SNV|false|0x050000080305000402000100|1|false|144|rs749774196|] -chr1 8029464 variant.620 G A . PASS FUNCOTATION=[PARK7|hg19|chr1|8029464|8029464|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:8029464G>A|ENST00000493678.1|+|4|319|c.252G>A|c.(250-252)gaG>gaA|p.E84E|0.3192019950124688|ATTTATCTGAGGTAAAAAATT|PARK7_ENST00000377491.1_SPLICE_SITE_p.E84E/PARK7_ENST00000338639.5_SPLICE_SITE_p.E84E/PARK7_ENST00000377488.1_SPLICE_SITE_p.E84E/PARK7_ENST00000377493.5_INTRON/PARK7_ENST00000497113.1_SPLICE_SITE|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||D61380|||HGNC:16369|Parkinsonism_%20_associated_%20_deglycase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Parkinson_%20_disease_%20_(autosomal_%20_recessive_%2C__%20_early_%20_onset)_%20_7"_%2C__%20_"parkinson_%20_protein_%20_7"|DJ-1_%2C__%20_DJ1_%2C__%20_GATD2||1p36.23|2017-07-25||2016-02-15|D61380||11315|ENSG00000116288|11462174_%2C__%20_9070310_%2C__%20_25416785_%2C__%20_28596309|NM_007262|672_%7C_1408|Parkinson_%20_disease_%20_associated_%20_genes_%7C_Glutamine_%20_amidotransferase_%20_like_%20_class_%20_1_%20_domain_%20_containing|CCDS93|OTTHUMG00000001210|11315|602533|NM_001123377|Q99497|ENSG00000116288|uc057byc.1|PARK7_HUMAN||B2R4Z1_%7C_O14805_%7C_Q6DR95_%7C_Q7LFU2|Q99497|adult_%20_locomotory_%20_behavior_%20_(GO:0008344)_%7C_autophagy_%20_(GO:0006914)_%7C_cellular_%20_response_%20_to_%20_glyoxal_%20_(GO:0036471)_%7C_cellular_%20_response_%20_to_%20_hydrogen_%20_peroxide_%20_(GO:0070301)_%7C_cellular_%20_response_%20_to_%20_oxidative_%20_stress_%20_(GO:0034599)_%7C_dopamine_%20_uptake_%20_involved_%20_in_%20_synaptic_%20_transmission_%20_(GO:0051583)_%7C_glycolate_%20_biosynthetic_%20_process_%20_(GO:0046295)_%7C_glyoxal_%20_catabolic_%20_process_%20_(GO:1903190)_%7C_hydrogen_%20_peroxide_%20_metabolic_%20_process_%20_(GO:0042743)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_lactate_%20_biosynthetic_%20_process_%20_(GO:0019249)_%7C_membrane_%20_depolarization_%20_(GO:0051899)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_methylglyoxal_%20_catabolic_%20_process_%20_to_%20_D-lactate_%20_(GO:0019243)_%7C_mitochondrion_%20_organization_%20_(GO:0007005)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_death_%20_(GO:0060548)_%7C_negative_%20_regulation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001268)_%7C_negative_%20_regulation_%20_of_%20_death-inducing_%20_signaling_%20_complex_%20_assembly_%20_(GO:1903073)_%7C_negative_%20_regulation_%20_of_%20_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001237)_%7C_negative_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0010629)_%7C_negative_%20_regulation_%20_of_%20_hydrogen_%20_peroxide-induced_%20_cell_%20_death_%20_(GO:1903206)_%7C_negative_%20_regulation_%20_of_%20_hydrogen_%20_peroxide-induced_%20_neuron_%20_death_%20_(GO:1903208)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_death_%20_(GO:1901215)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_cell_%20_death_%20_(GO:1903202)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_neuron_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1903377)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_acetylation_%20_(GO:1901984)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_export_%20_from_%20_nucleus_%20_(GO:0046826)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_K48-linked_%20_deubiquitination_%20_(GO:1903094)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_phosphorylation_%20_(GO:0001933)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_sumoylation_%20_(GO:0033234)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_TRAIL-activated_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1903122)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0051444)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-specific_%20_protease_%20_activity_%20_(GO:2000157)_%7C_positive_%20_regulation_%20_of_%20_androgen_%20_receptor_%20_activity_%20_(GO:2000825)_%7C_positive_%20_regulation_%20_of_%20_dopamine_%20_biosynthetic_%20_process_%20_(GO:1903181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-8_%20_production_%20_(GO:0032757)_%7C_positive_%20_regulation_%20_of_%20_L-dopa_%20_biosynthetic_%20_process_%20_(GO:1903197)_%7C_positive_%20_regulation_%20_of_%20_L-dopa_%20_decarboxylase_%20_activity_%20_(GO:1903200)_%7C_positive_%20_regulation_%20_of_%20_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:1902958)_%7C_positive_%20_regulation_%20_of_%20_oxidative_%20_phosphorylation_%20_uncoupler_%20_activity_%20_(GO:2000277)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_homodimerization_%20_activity_%20_(GO:0090073)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:1900182)_%7C_positive_%20_regulation_%20_of_%20_pyrroline-5-carboxylate_%20_reductase_%20_activity_%20_(GO:1903168)_%7C_positive_%20_regulation_%20_of_%20_superoxide_%20_dismutase_%20_activity_%20_(GO:1901671)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_tyrosine_%20_3-monooxygenase_%20_activity_%20_(GO:1903178)_%7C_protein_%20_stabilization_%20_(GO:0050821)_%7C_regulation_%20_of_%20_androgen_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0060765)_%7C_regulation_%20_of_%20_fibril_%20_organization_%20_(GO:1902903)_%7C_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050727)_%7C_regulation_%20_of_%20_mitochondrial_%20_membrane_%20_potential_%20_(GO:0051881)_%7C_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043523)_%7C_single_%20_fertilization_%20_(GO:0007338)|chromatin_%20_(GO:0000785)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_PML_%20_body_%20_(GO:0016605)|androgen_%20_receptor_%20_binding_%20_(GO:0050681)_%7C_cupric_%20_ion_%20_binding_%20_(GO:1903135)_%7C_cuprous_%20_ion_%20_binding_%20_(GO:1903136)_%7C_cytokine_%20_binding_%20_(GO:0019955)_%7C_enzyme_%20_binding_%20_(GO:0019899)_%7C_glyoxalase_%20_(glycolic_%20_acid-forming)_%20_activity_%20_(GO:1990422)_%7C_glyoxalase_%20_III_%20_activity_%20_(GO:0019172)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_L-dopa_%20_decarboxylase_%20_activator_%20_activity_%20_(GO:0036478)_%7C_mRNA_%20_binding_%20_(GO:0003729)_%7C_oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_peroxide_%20_as_%20_acceptor_%20_(GO:0016684)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_peroxidase_%20_activity_%20_(GO:0004601)_%7C_peroxiredoxin_%20_activity_%20_(GO:0051920)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_receptor_%20_binding_%20_(GO:0005102)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_RNA_%20_binding_%20_(GO:0003723)_%7C_scaffold_%20_protein_%20_binding_%20_(GO:0097110)_%7C_small_%20_protein_%20_activating_%20_enzyme_%20_binding_%20_(GO:0044388)_%7C_small_%20_protein_%20_conjugating_%20_enzyme_%20_binding_%20_(GO:0044390)_%7C_superoxide_%20_dismutase_%20_copper_%20_chaperone_%20_activity_%20_(GO:0016532)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)_%7C_tyrosine_%20_3-monooxygenase_%20_activator_%20_activity_%20_(GO:0036470)_%7C_ubiquitin-specific_%20_protease_%20_binding_%20_(GO:1990381)||||true|false||false|false|||false|false|false|PARK7:11315|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|749774196|8029464|false|false|0|false|0|true||false|false|false|SNV|false|0x050000080305000402000100|1|false|144|rs749774196|] -chr1 8045014 indel.625 GGCC G . PASS FUNCOTATION=[PARK7|hg19|chr1|8045015|8045017|IN_FRAME_DEL||DEL|GCC|GCC|-|g.chr1:8045015_8045017delGCC|ENST00000493678.1|+|7|537_539|c.471_473delGCC|c.(469-474)gggcct>ggt|p.P158del|0.4466501240694789|CAAGCCGGGGGCCTGGGACCAGC|PARK7_ENST00000377491.1_IN_FRAME_DEL_p.P158del/PARK7_ENST00000338639.5_IN_FRAME_DEL_p.P158del/PARK7_ENST00000377488.1_IN_FRAME_DEL_p.P158del/PARK7_ENST00000377493.5_IN_FRAME_DEL_p.P138del/Y_RNA_ENST00000363474.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||D61380|||HGNC:16369|Parkinsonism_%20_associated_%20_deglycase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Parkinson_%20_disease_%20_(autosomal_%20_recessive_%2C__%20_early_%20_onset)_%20_7"_%2C__%20_"parkinson_%20_protein_%20_7"|DJ-1_%2C__%20_DJ1_%2C__%20_GATD2||1p36.23|2017-07-25||2016-02-15|D61380||11315|ENSG00000116288|11462174_%2C__%20_9070310_%2C__%20_25416785_%2C__%20_28596309|NM_007262|672_%7C_1408|Parkinson_%20_disease_%20_associated_%20_genes_%7C_Glutamine_%20_amidotransferase_%20_like_%20_class_%20_1_%20_domain_%20_containing|CCDS93|OTTHUMG00000001210|11315|602533|NM_001123377|Q99497|ENSG00000116288|uc057byc.1|PARK7_HUMAN||B2R4Z1_%7C_O14805_%7C_Q6DR95_%7C_Q7LFU2|Q99497|adult_%20_locomotory_%20_behavior_%20_(GO:0008344)_%7C_autophagy_%20_(GO:0006914)_%7C_cellular_%20_response_%20_to_%20_glyoxal_%20_(GO:0036471)_%7C_cellular_%20_response_%20_to_%20_hydrogen_%20_peroxide_%20_(GO:0070301)_%7C_cellular_%20_response_%20_to_%20_oxidative_%20_stress_%20_(GO:0034599)_%7C_dopamine_%20_uptake_%20_involved_%20_in_%20_synaptic_%20_transmission_%20_(GO:0051583)_%7C_glycolate_%20_biosynthetic_%20_process_%20_(GO:0046295)_%7C_glyoxal_%20_catabolic_%20_process_%20_(GO:1903190)_%7C_hydrogen_%20_peroxide_%20_metabolic_%20_process_%20_(GO:0042743)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_lactate_%20_biosynthetic_%20_process_%20_(GO:0019249)_%7C_membrane_%20_depolarization_%20_(GO:0051899)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_methylglyoxal_%20_catabolic_%20_process_%20_to_%20_D-lactate_%20_(GO:0019243)_%7C_mitochondrion_%20_organization_%20_(GO:0007005)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_death_%20_(GO:0060548)_%7C_negative_%20_regulation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001268)_%7C_negative_%20_regulation_%20_of_%20_death-inducing_%20_signaling_%20_complex_%20_assembly_%20_(GO:1903073)_%7C_negative_%20_regulation_%20_of_%20_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001237)_%7C_negative_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0010629)_%7C_negative_%20_regulation_%20_of_%20_hydrogen_%20_peroxide-induced_%20_cell_%20_death_%20_(GO:1903206)_%7C_negative_%20_regulation_%20_of_%20_hydrogen_%20_peroxide-induced_%20_neuron_%20_death_%20_(GO:1903208)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_death_%20_(GO:1901215)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_cell_%20_death_%20_(GO:1903202)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_neuron_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1903377)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_acetylation_%20_(GO:1901984)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_export_%20_from_%20_nucleus_%20_(GO:0046826)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_K48-linked_%20_deubiquitination_%20_(GO:1903094)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_phosphorylation_%20_(GO:0001933)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_sumoylation_%20_(GO:0033234)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_TRAIL-activated_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1903122)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0051444)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-specific_%20_protease_%20_activity_%20_(GO:2000157)_%7C_positive_%20_regulation_%20_of_%20_androgen_%20_receptor_%20_activity_%20_(GO:2000825)_%7C_positive_%20_regulation_%20_of_%20_dopamine_%20_biosynthetic_%20_process_%20_(GO:1903181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-8_%20_production_%20_(GO:0032757)_%7C_positive_%20_regulation_%20_of_%20_L-dopa_%20_biosynthetic_%20_process_%20_(GO:1903197)_%7C_positive_%20_regulation_%20_of_%20_L-dopa_%20_decarboxylase_%20_activity_%20_(GO:1903200)_%7C_positive_%20_regulation_%20_of_%20_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:1902958)_%7C_positive_%20_regulation_%20_of_%20_oxidative_%20_phosphorylation_%20_uncoupler_%20_activity_%20_(GO:2000277)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_homodimerization_%20_activity_%20_(GO:0090073)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:1900182)_%7C_positive_%20_regulation_%20_of_%20_pyrroline-5-carboxylate_%20_reductase_%20_activity_%20_(GO:1903168)_%7C_positive_%20_regulation_%20_of_%20_superoxide_%20_dismutase_%20_activity_%20_(GO:1901671)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_tyrosine_%20_3-monooxygenase_%20_activity_%20_(GO:1903178)_%7C_protein_%20_stabilization_%20_(GO:0050821)_%7C_regulation_%20_of_%20_androgen_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0060765)_%7C_regulation_%20_of_%20_fibril_%20_organization_%20_(GO:1902903)_%7C_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050727)_%7C_regulation_%20_of_%20_mitochondrial_%20_membrane_%20_potential_%20_(GO:0051881)_%7C_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043523)_%7C_single_%20_fertilization_%20_(GO:0007338)|chromatin_%20_(GO:0000785)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_PML_%20_body_%20_(GO:0016605)|androgen_%20_receptor_%20_binding_%20_(GO:0050681)_%7C_cupric_%20_ion_%20_binding_%20_(GO:1903135)_%7C_cuprous_%20_ion_%20_binding_%20_(GO:1903136)_%7C_cytokine_%20_binding_%20_(GO:0019955)_%7C_enzyme_%20_binding_%20_(GO:0019899)_%7C_glyoxalase_%20_(glycolic_%20_acid-forming)_%20_activity_%20_(GO:1990422)_%7C_glyoxalase_%20_III_%20_activity_%20_(GO:0019172)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_L-dopa_%20_decarboxylase_%20_activator_%20_activity_%20_(GO:0036478)_%7C_mRNA_%20_binding_%20_(GO:0003729)_%7C_oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_peroxide_%20_as_%20_acceptor_%20_(GO:0016684)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_peroxidase_%20_activity_%20_(GO:0004601)_%7C_peroxiredoxin_%20_activity_%20_(GO:0051920)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_receptor_%20_binding_%20_(GO:0005102)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_RNA_%20_binding_%20_(GO:0003723)_%7C_scaffold_%20_protein_%20_binding_%20_(GO:0097110)_%7C_small_%20_protein_%20_activating_%20_enzyme_%20_binding_%20_(GO:0044388)_%7C_small_%20_protein_%20_conjugating_%20_enzyme_%20_binding_%20_(GO:0044390)_%7C_superoxide_%20_dismutase_%20_copper_%20_chaperone_%20_activity_%20_(GO:0016532)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)_%7C_tyrosine_%20_3-monooxygenase_%20_activator_%20_activity_%20_(GO:0036470)_%7C_ubiquitin-specific_%20_protease_%20_binding_%20_(GO:1990381)||||true|false||false|false|||false|false|false|PARK7:11315|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|764877312|8045015|false|false|0|false|0|false||false|false|false|DIV|true|0x050000000005040402000200|1|false|144|rs764877312|] -chr1 8073830 exm11005 C T . PASS FUNCOTATION=[ERRFI1|hg19|chr1|8073830|8073830|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:8073830C>T|ENST00000469499.1|-|3|||||0.48877805486284287|TTGTCTTCATCGGAGTTAGGA|ERRFI1_ENST00000474874.1_INTRON/ERRFI1_ENST00000377482.5_MISSENSE_p.D277N/ERRFI1_ENST00000467067.1_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||AL034417|||HGNC:18185|ERBB_%20_receptor_%20_feedback_%20_inhibitor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MIG-6_%2C__%20_GENE-33_%2C__%20_RALT||1p36.23|2014-11-19|||BC025337||54206|ENSG00000116285|10749885_%2C__%20_2780291_%2C__%20_12226756_%2C__%20_11003669|NM_018948|||CCDS94|OTTHUMG00000001221|54206|608069|NM_018948|Q9UJM3|ENSG00000116285|uc001aoz.4|ERRFI_HUMAN||B2RDX9_%7C_Q9NTG9_%7C_Q9UD05|Q9UJM3|lung_%20_alveolus_%20_development_%20_(GO:0048286)_%7C_lung_%20_epithelium_%20_development_%20_(GO:0060428)_%7C_lung_%20_vasculature_%20_development_%20_(GO:0060426)_%7C_negative_%20_regulation_%20_of_%20_epidermal_%20_growth_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0007175)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_autophosphorylation_%20_(GO:0031953)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_regulation_%20_of_%20_keratinocyte_%20_differentiation_%20_(GO:0045616)_%7C_response_%20_to_%20_stress_%20_(GO:0006950)_%7C_skin_%20_morphogenesis_%20_(GO:0043589)|cytoplasm_%20_(GO:0005737)_%7C_extrinsic_%20_component_%20_of_%20_cytoplasmic_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0031234)_%7C_nucleus_%20_(GO:0005634)|protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rho_%20_GTPase_%20_activator_%20_activity_%20_(GO:0005100)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8073919 exm11011 C T . PASS FUNCOTATION=[ERRFI1|hg19|chr1|8073919|8073919|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:8073919C>T|ENST00000469499.1|-|3|||||0.46384039900249374|ATGAGACCTTCTTAATCTTCG|ERRFI1_ENST00000474874.1_INTRON/ERRFI1_ENST00000377482.5_MISSENSE_p.R247K/ERRFI1_ENST00000467067.1_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||AL034417|||HGNC:18185|ERBB_%20_receptor_%20_feedback_%20_inhibitor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MIG-6_%2C__%20_GENE-33_%2C__%20_RALT||1p36.23|2014-11-19|||BC025337||54206|ENSG00000116285|10749885_%2C__%20_2780291_%2C__%20_12226756_%2C__%20_11003669|NM_018948|||CCDS94|OTTHUMG00000001221|54206|608069|NM_018948|Q9UJM3|ENSG00000116285|uc001aoz.4|ERRFI_HUMAN||B2RDX9_%7C_Q9NTG9_%7C_Q9UD05|Q9UJM3|lung_%20_alveolus_%20_development_%20_(GO:0048286)_%7C_lung_%20_epithelium_%20_development_%20_(GO:0060428)_%7C_lung_%20_vasculature_%20_development_%20_(GO:0060426)_%7C_negative_%20_regulation_%20_of_%20_epidermal_%20_growth_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0007175)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_autophosphorylation_%20_(GO:0031953)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_regulation_%20_of_%20_keratinocyte_%20_differentiation_%20_(GO:0045616)_%7C_response_%20_to_%20_stress_%20_(GO:0006950)_%7C_skin_%20_morphogenesis_%20_(GO:0043589)|cytoplasm_%20_(GO:0005737)_%7C_extrinsic_%20_component_%20_of_%20_cytoplasmic_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0031234)_%7C_nucleus_%20_(GO:0005634)|protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rho_%20_GTPase_%20_activator_%20_activity_%20_(GO:0005100)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8073925 exm11013 C T . PASS FUNCOTATION=[ERRFI1|hg19|chr1|8073925|8073925|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:8073925C>T|ENST00000469499.1|-|3|||||0.46384039900249374|CCTTCTTAATCTTCGGTGGGT|ERRFI1_ENST00000474874.1_INTRON/ERRFI1_ENST00000377482.5_MISSENSE_p.R245K/ERRFI1_ENST00000467067.1_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||AL034417|||HGNC:18185|ERBB_%20_receptor_%20_feedback_%20_inhibitor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MIG-6_%2C__%20_GENE-33_%2C__%20_RALT||1p36.23|2014-11-19|||BC025337||54206|ENSG00000116285|10749885_%2C__%20_2780291_%2C__%20_12226756_%2C__%20_11003669|NM_018948|||CCDS94|OTTHUMG00000001221|54206|608069|NM_018948|Q9UJM3|ENSG00000116285|uc001aoz.4|ERRFI_HUMAN||B2RDX9_%7C_Q9NTG9_%7C_Q9UD05|Q9UJM3|lung_%20_alveolus_%20_development_%20_(GO:0048286)_%7C_lung_%20_epithelium_%20_development_%20_(GO:0060428)_%7C_lung_%20_vasculature_%20_development_%20_(GO:0060426)_%7C_negative_%20_regulation_%20_of_%20_epidermal_%20_growth_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0007175)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_autophosphorylation_%20_(GO:0031953)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_regulation_%20_of_%20_keratinocyte_%20_differentiation_%20_(GO:0045616)_%7C_response_%20_to_%20_stress_%20_(GO:0006950)_%7C_skin_%20_morphogenesis_%20_(GO:0043589)|cytoplasm_%20_(GO:0005737)_%7C_extrinsic_%20_component_%20_of_%20_cytoplasmic_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0031234)_%7C_nucleus_%20_(GO:0005634)|protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rho_%20_GTPase_%20_activator_%20_activity_%20_(GO:0005100)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8073943 exm11015 G A . PASS FUNCOTATION=[ERRFI1|hg19|chr1|8073943|8073943|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:8073943G>A|ENST00000469499.1|-|3|||||0.45885286783042395|GGTCTGAGGTGGAGGAGGATT|ERRFI1_ENST00000474874.1_INTRON/ERRFI1_ENST00000377482.5_MISSENSE_p.P239L/ERRFI1_ENST00000467067.1_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||AL034417|||HGNC:18185|ERBB_%20_receptor_%20_feedback_%20_inhibitor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MIG-6_%2C__%20_GENE-33_%2C__%20_RALT||1p36.23|2014-11-19|||BC025337||54206|ENSG00000116285|10749885_%2C__%20_2780291_%2C__%20_12226756_%2C__%20_11003669|NM_018948|||CCDS94|OTTHUMG00000001221|54206|608069|NM_018948|Q9UJM3|ENSG00000116285|uc001aoz.4|ERRFI_HUMAN||B2RDX9_%7C_Q9NTG9_%7C_Q9UD05|Q9UJM3|lung_%20_alveolus_%20_development_%20_(GO:0048286)_%7C_lung_%20_epithelium_%20_development_%20_(GO:0060428)_%7C_lung_%20_vasculature_%20_development_%20_(GO:0060426)_%7C_negative_%20_regulation_%20_of_%20_epidermal_%20_growth_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0007175)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_autophosphorylation_%20_(GO:0031953)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_regulation_%20_of_%20_keratinocyte_%20_differentiation_%20_(GO:0045616)_%7C_response_%20_to_%20_stress_%20_(GO:0006950)_%7C_skin_%20_morphogenesis_%20_(GO:0043589)|cytoplasm_%20_(GO:0005737)_%7C_extrinsic_%20_component_%20_of_%20_cytoplasmic_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0031234)_%7C_nucleus_%20_(GO:0005634)|protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rho_%20_GTPase_%20_activator_%20_activity_%20_(GO:0005100)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8074094 exm11021 A G . PASS FUNCOTATION=[ERRFI1|hg19|chr1|8074094|8074094|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:8074094A>G|ENST00000469499.1|-|3|||||0.49625935162094764|TTGAAATCAGAAAGTGTAGAG|ERRFI1_ENST00000474874.1_INTRON/ERRFI1_ENST00000377482.5_MISSENSE_p.S189P/ERRFI1_ENST00000467067.1_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||AL034417|||HGNC:18185|ERBB_%20_receptor_%20_feedback_%20_inhibitor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MIG-6_%2C__%20_GENE-33_%2C__%20_RALT||1p36.23|2014-11-19|||BC025337||54206|ENSG00000116285|10749885_%2C__%20_2780291_%2C__%20_12226756_%2C__%20_11003669|NM_018948|||CCDS94|OTTHUMG00000001221|54206|608069|NM_018948|Q9UJM3|ENSG00000116285|uc001aoz.4|ERRFI_HUMAN||B2RDX9_%7C_Q9NTG9_%7C_Q9UD05|Q9UJM3|lung_%20_alveolus_%20_development_%20_(GO:0048286)_%7C_lung_%20_epithelium_%20_development_%20_(GO:0060428)_%7C_lung_%20_vasculature_%20_development_%20_(GO:0060426)_%7C_negative_%20_regulation_%20_of_%20_epidermal_%20_growth_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0007175)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_autophosphorylation_%20_(GO:0031953)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_regulation_%20_of_%20_keratinocyte_%20_differentiation_%20_(GO:0045616)_%7C_response_%20_to_%20_stress_%20_(GO:0006950)_%7C_skin_%20_morphogenesis_%20_(GO:0043589)|cytoplasm_%20_(GO:0005737)_%7C_extrinsic_%20_component_%20_of_%20_cytoplasmic_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0031234)_%7C_nucleus_%20_(GO:0005634)|protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rho_%20_GTPase_%20_activator_%20_activity_%20_(GO:0005100)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8074187 exm11027 T G . PASS FUNCOTATION=[ERRFI1|hg19|chr1|8074187|8074187|THREE_PRIME_UTR||SNP|T|T|G|g.chr1:8074187T>G|ENST00000469499.1|-|3|||||0.47381546134663344|GCTTCAGAGATTGGCAACGGT|ERRFI1_ENST00000474874.1_INTRON/ERRFI1_ENST00000377482.5_MISSENSE_p.I158L/ERRFI1_ENST00000467067.1_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||AL034417|||HGNC:18185|ERBB_%20_receptor_%20_feedback_%20_inhibitor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MIG-6_%2C__%20_GENE-33_%2C__%20_RALT||1p36.23|2014-11-19|||BC025337||54206|ENSG00000116285|10749885_%2C__%20_2780291_%2C__%20_12226756_%2C__%20_11003669|NM_018948|||CCDS94|OTTHUMG00000001221|54206|608069|NM_018948|Q9UJM3|ENSG00000116285|uc001aoz.4|ERRFI_HUMAN||B2RDX9_%7C_Q9NTG9_%7C_Q9UD05|Q9UJM3|lung_%20_alveolus_%20_development_%20_(GO:0048286)_%7C_lung_%20_epithelium_%20_development_%20_(GO:0060428)_%7C_lung_%20_vasculature_%20_development_%20_(GO:0060426)_%7C_negative_%20_regulation_%20_of_%20_epidermal_%20_growth_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0007175)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_autophosphorylation_%20_(GO:0031953)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_regulation_%20_of_%20_keratinocyte_%20_differentiation_%20_(GO:0045616)_%7C_response_%20_to_%20_stress_%20_(GO:0006950)_%7C_skin_%20_morphogenesis_%20_(GO:0043589)|cytoplasm_%20_(GO:0005737)_%7C_extrinsic_%20_component_%20_of_%20_cytoplasmic_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0031234)_%7C_nucleus_%20_(GO:0005634)|protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rho_%20_GTPase_%20_activator_%20_activity_%20_(GO:0005100)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8074334 exm11035 C T . PASS FUNCOTATION=[ERRFI1|hg19|chr1|8074334|8074334|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:8074334C>T|ENST00000469499.1|-|3|||||0.48877805486284287|ACAACTTGATCCTCTTCATGT|ERRFI1_ENST00000474874.1_INTRON/ERRFI1_ENST00000377482.5_MISSENSE_p.D109N/ERRFI1_ENST00000467067.1_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||AL034417|||HGNC:18185|ERBB_%20_receptor_%20_feedback_%20_inhibitor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MIG-6_%2C__%20_GENE-33_%2C__%20_RALT||1p36.23|2014-11-19|||BC025337||54206|ENSG00000116285|10749885_%2C__%20_2780291_%2C__%20_12226756_%2C__%20_11003669|NM_018948|||CCDS94|OTTHUMG00000001221|54206|608069|NM_018948|Q9UJM3|ENSG00000116285|uc001aoz.4|ERRFI_HUMAN||B2RDX9_%7C_Q9NTG9_%7C_Q9UD05|Q9UJM3|lung_%20_alveolus_%20_development_%20_(GO:0048286)_%7C_lung_%20_epithelium_%20_development_%20_(GO:0060428)_%7C_lung_%20_vasculature_%20_development_%20_(GO:0060426)_%7C_negative_%20_regulation_%20_of_%20_epidermal_%20_growth_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0007175)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_autophosphorylation_%20_(GO:0031953)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_regulation_%20_of_%20_keratinocyte_%20_differentiation_%20_(GO:0045616)_%7C_response_%20_to_%20_stress_%20_(GO:0006950)_%7C_skin_%20_morphogenesis_%20_(GO:0043589)|cytoplasm_%20_(GO:0005737)_%7C_extrinsic_%20_component_%20_of_%20_cytoplasmic_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0031234)_%7C_nucleus_%20_(GO:0005634)|protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rho_%20_GTPase_%20_activator_%20_activity_%20_(GO:0005100)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8094200 rs11799555 T G . PASS FUNCOTATION=[RP11-431K24.1|hg19|chr1|8094200|8094200|LINCRNA||SNP|T|T|G|g.chr1:8094200T>G|ENST00000445300.1|+|||c.e2+4783T>G|||0.3865336658354115|TATGCACAGATTTTTGGAGAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8095500 rs225132 T G . PASS FUNCOTATION=[RP11-431K24.1|hg19|chr1|8095500|8095500|LINCRNA||SNP|T|T|G|g.chr1:8095500T>G|ENST00000445300.1|+|||c.e2+6083T>G|||0.486284289276808|TGTAGGAATTTGTTGCATTCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8098462 rs225133 G A . PASS FUNCOTATION=[RP11-431K24.1|hg19|chr1|8098462|8098462|LINCRNA||SNP|G|G|A|g.chr1:8098462G>A|ENST00000445300.1|+|||c.e2+9045G>A|||0.341645885286783|CATTTGTCCTGTCTCATTAGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8106987 rs17032042 T G . PASS FUNCOTATION=[RP11-431K24.1|hg19|chr1|8106987|8106987|LINCRNA||SNP|T|T|G|g.chr1:8106987T>G|ENST00000445300.1|+|||c.e2+17570T>G|||0.371571072319202|TTTTGTCATTTTTGCAGATAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8118634 rs7525428 T C . PASS FUNCOTATION=[RP11-431K24.1|hg19|chr1|8118634|8118634|LINCRNA||SNP|T|T|C|g.chr1:8118634T>C|ENST00000445300.1|+|||c.e2+29217T>C|||0.513715710723192|TTGATTACCATGTACTCCCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8119251 rs4908724 G T . PASS FUNCOTATION=[RP11-431K24.1|hg19|chr1|8119251|8119251|LINCRNA||SNP|G|G|T|g.chr1:8119251G>T|ENST00000445300.1|+|||c.e2+29834G>T|||0.33915211970074816|CTGTTCTCATGATCTTGAAGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8160832 rs12081139 C T . PASS FUNCOTATION=[RP11-431K24.1|hg19|chr1|8160832|8160832|LINCRNA||SNP|C|C|T|g.chr1:8160832C>T|ENST00000445300.1|+|||c.e3-20702C>T|||0.4488778054862843|GTAAAACCAGCGAAGTCAAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8168564 rs10864330 C T . PASS FUNCOTATION=[RP11-431K24.1|hg19|chr1|8168564|8168564|LINCRNA||SNP|C|C|T|g.chr1:8168564C>T|ENST00000445300.1|+|||c.e3-12970C>T|||0.42643391521197005|AAGGAACTATCGAGCCCAGGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8177482 psy_rs77896802 A G . PASS FUNCOTATION=[RP11-431K24.1|hg19|chr1|8177482|8177482|LINCRNA||SNP|A|A|G|g.chr1:8177482A>G|ENST00000445300.1|+|||c.e3-4052A>G|||0.4314214463840399|GATGGTGGAAATTTTGTAAAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8180210 rs7523335 G A . PASS FUNCOTATION=[RP11-431K24.1|hg19|chr1|8180210|8180210|LINCRNA||SNP|G|G|A|g.chr1:8180210G>A|ENST00000445300.1|+|||c.e3-1324G>A|||0.4339152119700748|CTCTCCTCACGGTAGCCCACA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8182535 rs6577466 G T . PASS FUNCOTATION=[RP11-431K24.1|hg19|chr1|8182535|8182535|LINCRNA||SNP|G|G|T|g.chr1:8182535G>T|ENST00000445300.1|+|||c.e3-227G>T|||0.48129675810473815|GTTTGTTACAGTTTTACTAAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8274018 rs390468 G A . PASS FUNCOTATION=[RP11-431K24.3|hg19|chr1|8274018|8274018|LINCRNA||SNP|G|G|A|g.chr1:8274018G>A|ENST00000452982.1|+|||c.e3-667G>A|||0.42643391521197005|AAGGCCATGGGGTTAGTAAGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8278899 rs428180 A C . PASS FUNCOTATION=[RP11-431K24.4|hg19|chr1|8278899|8278899|LINCRNA||SNP|A|A|C|g.chr1:8278899A>C|ENST00000424689.1|-|||c.e2+306T>G|||0.48877805486284287|TGACTTGGTTATTGCGTCACT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8280517 rs10864340 C T . PASS FUNCOTATION=[RP11-431K24.4|hg19|chr1|8280517|8280517|LINCRNA||SNP|C|C|T|g.chr1:8280517C>T|ENST00000424689.1|-|||c.e1+60G>A|||0.49875311720698257|TGCGACCACACAAGCAAGCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8352240 psy_rs72862684 C T . PASS FUNCOTATION=[RNU6-991P|hg19|chr1|8352240|8352240|RNA||SNP|C|C|T|g.chr1:8352240C>T|ENST00000516168.1|-|||c.e1+23G>A|||0.40399002493765584|GTTTCATGAACCCGCTGGTCA|||||||||||||||||||||||||||||||||||||HGNC:47954|RNA_%2C__%20_U6_%20_small_%20_nuclear_%20_991_%2C__%20_pseudogene|Approved|pseudogene|pseudogene|||||1p36.23|2013-05-01|||||106480004|ENSG00000251977|||||||106480004||NG_043949||ENSG00000251977||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8384785 exm2275212 C T . PASS FUNCOTATION=[SLC45A1|hg19|chr1|8384785|8384785|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:8384785C>T|ENST00000471889.1|+|2|781|c.396C>T|c.(394-396)ctC>ctT|p.L132L|0.5910224438902744|GCCCCATCCTCGGTGAGCCCC|SLC45A1_ENST00000289877.8_SPLICE_SITE_p.L132L/SLC45A1_ENST00000377479.2_SPLICE_SITE_p.L166L/Y_RNA_ENST00000516445.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AL356072|||HGNC:17939|solute_%20_carrier_%20_family_%20_45_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DNB5|"deleted_%20_in_%20_neuroblastoma_%20_5"_%2C__%20_"solute_%20_carrier_%20_family_%20_45_%2C__%20_member_%20_1"||"H+/sugar_%20_symporter"|1p36.23|2016-04-25|2005-10-04|2015-12-08|AF118274||50651|ENSG00000162426|10729226||752|Solute_%20_carriers|CCDS30577|OTTHUMG00000000503|50651|605763|NM_001080397|Q9Y2W3|ENSG00000162426|uc001apb.3|S45A1_HUMAN||Q5VY46_%7C_Q5VY49|Q9Y2W3|carbohydrate_%20_transport_%20_(GO:0008643)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|symporter_%20_activity_%20_(GO:0015293)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8384785 exm2275212 C T . PASS FUNCOTATION=[SLC45A1|hg19|chr1|8384785|8384785|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:8384785C>T|ENST00000471889.1|+|2|781|c.396C>T|c.(394-396)ctC>ctT|p.L132L|0.5910224438902744|GCCCCATCCTCGGTGAGCCCC|SLC45A1_ENST00000289877.8_SPLICE_SITE_p.L132L/SLC45A1_ENST00000377479.2_SPLICE_SITE_p.L166L/Y_RNA_ENST00000516445.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AL356072|||HGNC:17939|solute_%20_carrier_%20_family_%20_45_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DNB5|"deleted_%20_in_%20_neuroblastoma_%20_5"_%2C__%20_"solute_%20_carrier_%20_family_%20_45_%2C__%20_member_%20_1"||"H+/sugar_%20_symporter"|1p36.23|2016-04-25|2005-10-04|2015-12-08|AF118274||50651|ENSG00000162426|10729226||752|Solute_%20_carriers|CCDS30577|OTTHUMG00000000503|50651|605763|NM_001080397|Q9Y2W3|ENSG00000162426|uc001apb.3|S45A1_HUMAN||Q5VY46_%7C_Q5VY49|Q9Y2W3|carbohydrate_%20_transport_%20_(GO:0008643)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|symporter_%20_activity_%20_(GO:0015293)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8390888 rs2289731 G A . PASS FUNCOTATION=[SLC45A1|hg19|chr1|8390888|8390888|SILENT||SNP|G|G|A|g.chr1:8390888G>A|ENST00000471889.1|+|5|1720|c.1335G>A|c.(1333-1335)ccG>ccA|p.P445P|0.6384039900249376|CCTCTAAGCCGAGGTCATCAG|SLC45A1_ENST00000289877.8_SILENT_p.P445P/SLC45A1_ENST00000377479.2_SILENT_p.P479P/SLC45A1_ENST00000481265.1_INTRON|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AL356072|||HGNC:17939|solute_%20_carrier_%20_family_%20_45_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DNB5|"deleted_%20_in_%20_neuroblastoma_%20_5"_%2C__%20_"solute_%20_carrier_%20_family_%20_45_%2C__%20_member_%20_1"||"H+/sugar_%20_symporter"|1p36.23|2016-04-25|2005-10-04|2015-12-08|AF118274||50651|ENSG00000162426|10729226||752|Solute_%20_carriers|CCDS30577|OTTHUMG00000000503|50651|605763|NM_001080397|Q9Y2W3|ENSG00000162426|uc001apb.3|S45A1_HUMAN||Q5VY46_%7C_Q5VY49|Q9Y2W3|carbohydrate_%20_transport_%20_(GO:0008643)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|symporter_%20_activity_%20_(GO:0015293)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8399759 chr1_8399759 G A . PASS FUNCOTATION=[SLC45A1|hg19|chr1|8399759|8399759|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:8399759G>A|ENST00000471889.1|+|||c.e8+1G>A|c.e8+1||0.5635910224438903|GAGTAAGAAGGTAAGTGCTCT|SLC45A1_ENST00000289877.8_SPLICE_SITE/SLC45A1_ENST00000377479.2_SPLICE_SITE|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AL356072|||HGNC:17939|solute_%20_carrier_%20_family_%20_45_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DNB5|"deleted_%20_in_%20_neuroblastoma_%20_5"_%2C__%20_"solute_%20_carrier_%20_family_%20_45_%2C__%20_member_%20_1"||"H+/sugar_%20_symporter"|1p36.23|2016-04-25|2005-10-04|2015-12-08|AF118274||50651|ENSG00000162426|10729226||752|Solute_%20_carriers|CCDS30577|OTTHUMG00000000503|50651|605763|NM_001080397|Q9Y2W3|ENSG00000162426|uc001apb.3|S45A1_HUMAN||Q5VY46_%7C_Q5VY49|Q9Y2W3|carbohydrate_%20_transport_%20_(GO:0008643)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|symporter_%20_activity_%20_(GO:0015293)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8404093 psy_rs1055236 C T . PASS FUNCOTATION=[SLC45A1|hg19|chr1|8404093|8404093|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:8404093C>T|ENST00000471889.1|+|9|||||0.5860349127182045|GCCTCGACTCCGGACACGCGC|SLC45A1_ENST00000289877.8_THREE_PRIME_UTR/SLC45A1_ENST00000377479.2_THREE_PRIME_UTR|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AL356072|||HGNC:17939|solute_%20_carrier_%20_family_%20_45_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DNB5|"deleted_%20_in_%20_neuroblastoma_%20_5"_%2C__%20_"solute_%20_carrier_%20_family_%20_45_%2C__%20_member_%20_1"||"H+/sugar_%20_symporter"|1p36.23|2016-04-25|2005-10-04|2015-12-08|AF118274||50651|ENSG00000162426|10729226||752|Solute_%20_carriers|CCDS30577|OTTHUMG00000000503|50651|605763|NM_001080397|Q9Y2W3|ENSG00000162426|uc001apb.3|S45A1_HUMAN||Q5VY46_%7C_Q5VY49|Q9Y2W3|carbohydrate_%20_transport_%20_(GO:0008643)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|symporter_%20_activity_%20_(GO:0015293)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8412935 rs8627 C T . PASS FUNCOTATION=[RERE|hg19|chr1|8412935|8412935|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:8412935C>T|ENST00000337907.3|-|24|||||0.49625935162094764|CTTCGGACGGCTTTCAAGCAC|RERE_ENST00000377464.1_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||AL357713|NM_012102.3|NP_036234.3|HGNC:9965|arginine-glutamic_%20_acid_%20_dipeptide_%20_repeats|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ATN1L|"arginine-glutamic_%20_acid_%20_dipeptide_%20_(RE)_%20_repeats"|KIAA0458_%2C__%20_ARP_%2C__%20_ARG_%2C__%20_DNB1||1p36.23|2016-04-05||2016-04-05|AF016005||473|ENSG00000142599|10814707_%2C__%20_10729226||82_%7C_532|GATA_%20_zinc_%20_finger_%20_domain_%20_containing_%7C_Myb/SANT_%20_domain_%20_containing|CCDS95_%2C__%20_CCDS41243|OTTHUMG00000001765|473|605226|NM_001042681|Q9P2R6|ENSG00000142599|uc001ape.4|RERE_HUMAN||O43393_%7C_O75046_%7C_O75359_%7C_Q5VXL9_%7C_Q6P6B9_%7C_Q9Y2W4|Q9P2R6|chromatin_%20_remodeling_%20_(GO:0006338)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_NLS-bearing_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006607)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|histone_%20_deacetylase_%20_complex_%20_(GO:0000118)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_poly-glutamine_%20_tract_%20_binding_%20_(GO:0008267)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8412989 psy_rs1064826 A G . PASS FUNCOTATION=[RERE|hg19|chr1|8412989|8412989|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:8412989A>G|ENST00000337907.3|-|24|||||0.5087281795511222|ATGGATGCCAAAGGAGGAGAT|RERE_ENST00000377464.1_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||AL357713|NM_012102.3|NP_036234.3|HGNC:9965|arginine-glutamic_%20_acid_%20_dipeptide_%20_repeats|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ATN1L|"arginine-glutamic_%20_acid_%20_dipeptide_%20_(RE)_%20_repeats"|KIAA0458_%2C__%20_ARP_%2C__%20_ARG_%2C__%20_DNB1||1p36.23|2016-04-05||2016-04-05|AF016005||473|ENSG00000142599|10814707_%2C__%20_10729226||82_%7C_532|GATA_%20_zinc_%20_finger_%20_domain_%20_containing_%7C_Myb/SANT_%20_domain_%20_containing|CCDS95_%2C__%20_CCDS41243|OTTHUMG00000001765|473|605226|NM_001042681|Q9P2R6|ENSG00000142599|uc001ape.4|RERE_HUMAN||O43393_%7C_O75046_%7C_O75359_%7C_Q5VXL9_%7C_Q6P6B9_%7C_Q9Y2W4|Q9P2R6|chromatin_%20_remodeling_%20_(GO:0006338)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_NLS-bearing_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006607)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|histone_%20_deacetylase_%20_complex_%20_(GO:0000118)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_poly-glutamine_%20_tract_%20_binding_%20_(GO:0008267)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8416160 exm11230 C T . PASS FUNCOTATION=[RERE|hg19|chr1|8416160|8416160|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:8416160C>T|ENST00000337907.3|-|22|5121|c.4486G>A|c.(4486-4488)Ggc>Agc|p.G1496S|0.6084788029925187|GAAGTCTTACCGAAAACTGGG|RERE_ENST00000400908.2_SPLICE_SITE_p.G1496S/RERE_ENST00000377464.1_SPLICE_SITE_p.G1228S/RERE_ENST00000476556.1_SPLICE_SITE_p.G942S/RERE_ENST00000400907.2_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||AL357713|NM_012102.3|NP_036234.3|HGNC:9965|arginine-glutamic_%20_acid_%20_dipeptide_%20_repeats|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ATN1L|"arginine-glutamic_%20_acid_%20_dipeptide_%20_(RE)_%20_repeats"|KIAA0458_%2C__%20_ARP_%2C__%20_ARG_%2C__%20_DNB1||1p36.23|2016-04-05||2016-04-05|AF016005||473|ENSG00000142599|10814707_%2C__%20_10729226||82_%7C_532|GATA_%20_zinc_%20_finger_%20_domain_%20_containing_%7C_Myb/SANT_%20_domain_%20_containing|CCDS95_%2C__%20_CCDS41243|OTTHUMG00000001765|473|605226|NM_001042681|Q9P2R6|ENSG00000142599|uc001ape.4|RERE_HUMAN||O43393_%7C_O75046_%7C_O75359_%7C_Q5VXL9_%7C_Q6P6B9_%7C_Q9Y2W4|Q9P2R6|chromatin_%20_remodeling_%20_(GO:0006338)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_NLS-bearing_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006607)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|histone_%20_deacetylase_%20_complex_%20_(GO:0000118)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_poly-glutamine_%20_tract_%20_binding_%20_(GO:0008267)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8420270 exm1912798 G A . PASS FUNCOTATION=[RERE|hg19|chr1|8420270|8420270|SILENT||SNP|G|G|A|g.chr1:8420270G>A|ENST00000337907.3|-|19|3932|c.3297C>T|c.(3295-3297)gaC>gaT|p.D1099D|0.6982543640897756|CCTCAGCGTCGTCCAGAGCCT|RERE_ENST00000400908.2_SILENT_p.D1099D/RERE_ENST00000377464.1_SILENT_p.D831D/RERE_ENST00000476556.1_SILENT_p.D545D/RERE_ENST00000400907.2_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||AL357713|NM_012102.3|NP_036234.3|HGNC:9965|arginine-glutamic_%20_acid_%20_dipeptide_%20_repeats|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ATN1L|"arginine-glutamic_%20_acid_%20_dipeptide_%20_(RE)_%20_repeats"|KIAA0458_%2C__%20_ARP_%2C__%20_ARG_%2C__%20_DNB1||1p36.23|2016-04-05||2016-04-05|AF016005||473|ENSG00000142599|10814707_%2C__%20_10729226||82_%7C_532|GATA_%20_zinc_%20_finger_%20_domain_%20_containing_%7C_Myb/SANT_%20_domain_%20_containing|CCDS95_%2C__%20_CCDS41243|OTTHUMG00000001765|473|605226|NM_001042681|Q9P2R6|ENSG00000142599|uc001ape.4|RERE_HUMAN||O43393_%7C_O75046_%7C_O75359_%7C_Q5VXL9_%7C_Q6P6B9_%7C_Q9Y2W4|Q9P2R6|chromatin_%20_remodeling_%20_(GO:0006338)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_NLS-bearing_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006607)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|histone_%20_deacetylase_%20_complex_%20_(GO:0000118)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_poly-glutamine_%20_tract_%20_binding_%20_(GO:0008267)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8425900 rs3753275 T C . PASS FUNCOTATION=[RERE|hg19|chr1|8425900|8425900|SILENT||SNP|T|T|C|g.chr1:8425900T>C|ENST00000337907.3|-|14|2054|c.1419A>G|c.(1417-1419)acA>acG|p.T473T|0.6234413965087282|GTCTGGAGGGTGTGTTGACGG|RERE_ENST00000400908.2_SILENT_p.T473T/RERE_ENST00000377464.1_SILENT_p.T205T/RERE_ENST00000400907.2_SILENT_p.T473T/RERE_ENST00000476556.1_FIVE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||AL357713|NM_012102.3|NP_036234.3|HGNC:9965|arginine-glutamic_%20_acid_%20_dipeptide_%20_repeats|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ATN1L|"arginine-glutamic_%20_acid_%20_dipeptide_%20_(RE)_%20_repeats"|KIAA0458_%2C__%20_ARP_%2C__%20_ARG_%2C__%20_DNB1||1p36.23|2016-04-05||2016-04-05|AF016005||473|ENSG00000142599|10814707_%2C__%20_10729226||82_%7C_532|GATA_%20_zinc_%20_finger_%20_domain_%20_containing_%7C_Myb/SANT_%20_domain_%20_containing|CCDS95_%2C__%20_CCDS41243|OTTHUMG00000001765|473|605226|NM_001042681|Q9P2R6|ENSG00000142599|uc001ape.4|RERE_HUMAN||O43393_%7C_O75046_%7C_O75359_%7C_Q5VXL9_%7C_Q6P6B9_%7C_Q9Y2W4|Q9P2R6|chromatin_%20_remodeling_%20_(GO:0006338)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_NLS-bearing_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006607)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|histone_%20_deacetylase_%20_complex_%20_(GO:0000118)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_poly-glutamine_%20_tract_%20_binding_%20_(GO:0008267)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8555123 exm2233884 T G . PASS FUNCOTATION=[RERE|hg19|chr1|8555123|8555123|SPLICE_SITE|SILENT|SNP|T|T|G|g.chr1:8555123T>G|ENST00000337907.3|-|11|1739|c.1104A>C|c.(1102-1104)acA>acC|p.T368T|0.4912718204488778|AAAGACTTACTGTGTTCAGTG|RERE_ENST00000400908.2_SPLICE_SITE_p.T368T/RERE_ENST00000377464.1_SPLICE_SITE_p.T100T/RERE_ENST00000400907.2_SPLICE_SITE_p.T368T|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||AL357713|NM_012102.3|NP_036234.3|HGNC:9965|arginine-glutamic_%20_acid_%20_dipeptide_%20_repeats|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ATN1L|"arginine-glutamic_%20_acid_%20_dipeptide_%20_(RE)_%20_repeats"|KIAA0458_%2C__%20_ARP_%2C__%20_ARG_%2C__%20_DNB1||1p36.23|2016-04-05||2016-04-05|AF016005||473|ENSG00000142599|10814707_%2C__%20_10729226||82_%7C_532|GATA_%20_zinc_%20_finger_%20_domain_%20_containing_%7C_Myb/SANT_%20_domain_%20_containing|CCDS95_%2C__%20_CCDS41243|OTTHUMG00000001765|473|605226|NM_001042681|Q9P2R6|ENSG00000142599|uc001ape.4|RERE_HUMAN||O43393_%7C_O75046_%7C_O75359_%7C_Q5VXL9_%7C_Q6P6B9_%7C_Q9Y2W4|Q9P2R6|chromatin_%20_remodeling_%20_(GO:0006338)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_NLS-bearing_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006607)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|histone_%20_deacetylase_%20_complex_%20_(GO:0000118)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_poly-glutamine_%20_tract_%20_binding_%20_(GO:0008267)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8555123 exm2233884 T G . PASS FUNCOTATION=[RERE|hg19|chr1|8555123|8555123|SPLICE_SITE|SILENT|SNP|T|T|G|g.chr1:8555123T>G|ENST00000337907.3|-|11|1739|c.1104A>C|c.(1102-1104)acA>acC|p.T368T|0.4912718204488778|AAAGACTTACTGTGTTCAGTG|RERE_ENST00000400908.2_SPLICE_SITE_p.T368T/RERE_ENST00000377464.1_SPLICE_SITE_p.T100T/RERE_ENST00000400907.2_SPLICE_SITE_p.T368T|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||AL357713|NM_012102.3|NP_036234.3|HGNC:9965|arginine-glutamic_%20_acid_%20_dipeptide_%20_repeats|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ATN1L|"arginine-glutamic_%20_acid_%20_dipeptide_%20_(RE)_%20_repeats"|KIAA0458_%2C__%20_ARP_%2C__%20_ARG_%2C__%20_DNB1||1p36.23|2016-04-05||2016-04-05|AF016005||473|ENSG00000142599|10814707_%2C__%20_10729226||82_%7C_532|GATA_%20_zinc_%20_finger_%20_domain_%20_containing_%7C_Myb/SANT_%20_domain_%20_containing|CCDS95_%2C__%20_CCDS41243|OTTHUMG00000001765|473|605226|NM_001042681|Q9P2R6|ENSG00000142599|uc001ape.4|RERE_HUMAN||O43393_%7C_O75046_%7C_O75359_%7C_Q5VXL9_%7C_Q6P6B9_%7C_Q9Y2W4|Q9P2R6|chromatin_%20_remodeling_%20_(GO:0006338)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_NLS-bearing_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006607)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|histone_%20_deacetylase_%20_complex_%20_(GO:0000118)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_poly-glutamine_%20_tract_%20_binding_%20_(GO:0008267)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8922983 variant.631 G A . PASS FUNCOTATION=[ENO1|hg19|chr1|8922983|8922983|NONSENSE||SNP|G|G|A|g.chr1:8922983G>A|ENST00000234590.4|-|11|1318|c.1198C>T|c.(1198-1200)Cga>Tga|p.R400*|0.5685785536159601|CGCTCAGATCGGCAAGGGGCA||Esophageal_%20_Squamous(21_%3B_302_%20_608_%20_19946_%20_22210_%20_33560)||||||||||||||||||||||||285|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_thymus(14)|||||||X84907|NM_001428.3|NP_001419.1|HGNC:3350|enolase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ENO1L1_%2C__%20_MPB1|"enolase_%20_1_%2C__%20_(alpha)"|PPH_%2C__%20_MBP-1|"alpha-enolase"|1p36.23|2016-10-05||2016-04-05|BC022545|4.2.1.11|2023|ENSG00000074800|9653645_%2C__%20_9691177|NM_001428|||CCDS97|OTTHUMG00000001773|2023|172430|NM_001201483|P06733|ENSG00000074800|uc001apj.3|ENOA_HUMAN||B2RD59_%7C_P22712_%7C_Q16704_%7C_Q4TUS4_%7C_Q53FT9_%7C_Q53HR3_%7C_Q658M5_%7C_Q6GMP2_%7C_Q71V37_%7C_Q7Z3V6_%7C_Q8WU71_%7C_Q96GV1_%7C_Q9BT62_%7C_Q9UCH6_%7C_Q9UM55|P06733|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_gluconeogenesis_%20_(GO:0006094)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_glycolytic_%20_process_%20_(GO:0006096)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_response_%20_to_%20_virus_%20_(GO:0009615)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)_%7C_phosphopyruvate_%20_hydratase_%20_complex_%20_(GO:0000015)_%7C_plasma_%20_membrane_%20_(GO:0005886)|DNA_%20_binding_%20_(GO:0003677)_%7C_magnesium_%20_ion_%20_binding_%20_(GO:0000287)_%7C_phosphopyruvate_%20_hydratase_%20_activity_%20_(GO:0004634)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 8924042 exm2253582 T G . PASS FUNCOTATION=[ENO1|hg19|chr1|8924042|8924042|SILENT||SNP|T|T|G|g.chr1:8924042T>G|ENST00000234590.4|-|9|1095|c.975A>C|c.(973-975)ccA>ccC|p.P325P|0.5511221945137157|CGATCCTCTTTGGGTTGGTCA||Esophageal_%20_Squamous(21_%3B_302_%20_608_%20_19946_%20_22210_%20_33560)||||||||||||||||||||||||285|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_thymus(14)|||||||X84907|NM_001428.3|NP_001419.1|HGNC:3350|enolase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ENO1L1_%2C__%20_MPB1|"enolase_%20_1_%2C__%20_(alpha)"|PPH_%2C__%20_MBP-1|"alpha-enolase"|1p36.23|2016-10-05||2016-04-05|BC022545|4.2.1.11|2023|ENSG00000074800|9653645_%2C__%20_9691177|NM_001428|||CCDS97|OTTHUMG00000001773|2023|172430|NM_001201483|P06733|ENSG00000074800|uc001apj.3|ENOA_HUMAN||B2RD59_%7C_P22712_%7C_Q16704_%7C_Q4TUS4_%7C_Q53FT9_%7C_Q53HR3_%7C_Q658M5_%7C_Q6GMP2_%7C_Q71V37_%7C_Q7Z3V6_%7C_Q8WU71_%7C_Q96GV1_%7C_Q9BT62_%7C_Q9UCH6_%7C_Q9UM55|P06733|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_gluconeogenesis_%20_(GO:0006094)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_glycolytic_%20_process_%20_(GO:0006096)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_response_%20_to_%20_virus_%20_(GO:0009615)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)_%7C_phosphopyruvate_%20_hydratase_%20_complex_%20_(GO:0000015)_%7C_plasma_%20_membrane_%20_(GO:0005886)|DNA_%20_binding_%20_(GO:0003677)_%7C_magnesium_%20_ion_%20_binding_%20_(GO:0000287)_%7C_phosphopyruvate_%20_hydratase_%20_activity_%20_(GO:0004634)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9030964 exm11606 C T . PASS FUNCOTATION=[CA6|hg19|chr1|9030964|9030964|SILENT||SNP|C|C|T|g.chr1:9030964C>T|ENST00000377436.3|+|7|768|c.768C>T|c.(766-768)aaC>aaT|p.N256N|0.5261845386533666|ATCACCGCAACAAGACCATCC|CA6_ENST00000377443.2_SILENT_p.N256N/CA6_ENST00000377442.2_SILENT_p.N196N/CA6_ENST00000476083.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M57892|NM_001270500.1|NP_001257429.1|HGNC:1380|carbonic_%20_anhydrase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"carbonic_%20_anhydrase_%20_VI"|||1p36.23|2016-10-05||2016-03-18|M57892|4.2.1.1|765|ENSG00000131686|9691177||460|Carbonic_%20_anhydrases|CCDS30578_%2C__%20_CCDS57970_%2C__%20_CCDS57971|OTTHUMG00000001763|765|114780|NM_001215|P23280|ENSG00000131686|uc001apm.5|CAH6_HUMAN|Mafenide(DB06795)_%7C_Zonisamide(DB00909)|E7EMQ1_%7C_Q5FBW3_%7C_Q5FC00_%7C_Q96QX8_%7C_Q9UF03|P23280|bicarbonate_%20_transport_%20_(GO:0015701)_%7C_detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_bitter_%20_taste_%20_(GO:0001580)_%7C_one-carbon_%20_metabolic_%20_process_%20_(GO:0006730)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|carbonate_%20_dehydratase_%20_activity_%20_(GO:0004089)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9030964 exm2253595 C T . PASS FUNCOTATION=[CA6|hg19|chr1|9030964|9030964|SILENT||SNP|C|C|T|g.chr1:9030964C>T|ENST00000377436.3|+|7|768|c.768C>T|c.(766-768)aaC>aaT|p.N256N|0.5261845386533666|ATCACCGCAACAAGACCATCC|CA6_ENST00000377443.2_SILENT_p.N256N/CA6_ENST00000377442.2_SILENT_p.N196N/CA6_ENST00000476083.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M57892|NM_001270500.1|NP_001257429.1|HGNC:1380|carbonic_%20_anhydrase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"carbonic_%20_anhydrase_%20_VI"|||1p36.23|2016-10-05||2016-03-18|M57892|4.2.1.1|765|ENSG00000131686|9691177||460|Carbonic_%20_anhydrases|CCDS30578_%2C__%20_CCDS57970_%2C__%20_CCDS57971|OTTHUMG00000001763|765|114780|NM_001215|P23280|ENSG00000131686|uc001apm.5|CAH6_HUMAN|Mafenide(DB06795)_%7C_Zonisamide(DB00909)|E7EMQ1_%7C_Q5FBW3_%7C_Q5FC00_%7C_Q96QX8_%7C_Q9UF03|P23280|bicarbonate_%20_transport_%20_(GO:0015701)_%7C_detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_bitter_%20_taste_%20_(GO:0001580)_%7C_one-carbon_%20_metabolic_%20_process_%20_(GO:0006730)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|carbonate_%20_dehydratase_%20_activity_%20_(GO:0004089)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9063578 exm11630 C T . PASS FUNCOTATION=[SLC2A7|hg19|chr1|9063578|9063578|SPLICE_SITE|INTRON|SNP|C|C|T|g.chr1:9063578C>T|ENST00000400906.1|-|||c.e12+1G>A|c.e12-1||0.49875311720698257|CGATGGCCTCCTAGACCAGGA||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471130|NM_207420.2|NP_997303.2|HGNC:13445|solute_%20_carrier_%20_family_%20_2_%20_member_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_2_%20_(facilitated_%20_glucose_%20_transporter)_%2C__%20_member_%20_7"|GLUT7|"intestinal_%20_facilitative_%20_glucose_%20_transporter_%20_7"|1p36.23|2016-10-05||2016-02-17|AL356306||155184|ENSG00000197241|11780753|NM_207420|752|Solute_%20_carriers|CCDS98|OTTHUMG00000057499|155184|610371|NM_207420|Q6PXP3|ENSG00000197241|uc009vmo.1|GTR7_HUMAN||A2A333|Q6PXP3|carbohydrate_%20_transport_%20_(GO:0008643)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|substrate-specific_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0022891)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9079267 chr1_9079267 C T . PASS FUNCOTATION=[SLC2A7|hg19|chr1|9079267|9079267|SPLICE_SITE|INTRON|SNP|C|C|T|g.chr1:9079267C>T|ENST00000400906.1|-|||c.e4-1G>A|c.e4+1||0.543640897755611|GCCCCAGGTACCTGCACAGAC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471130|NM_207420.2|NP_997303.2|HGNC:13445|solute_%20_carrier_%20_family_%20_2_%20_member_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_2_%20_(facilitated_%20_glucose_%20_transporter)_%2C__%20_member_%20_7"|GLUT7|"intestinal_%20_facilitative_%20_glucose_%20_transporter_%20_7"|1p36.23|2016-10-05||2016-02-17|AL356306||155184|ENSG00000197241|11780753|NM_207420|752|Solute_%20_carriers|CCDS98|OTTHUMG00000057499|155184|610371|NM_207420|Q6PXP3|ENSG00000197241|uc009vmo.1|GTR7_HUMAN||A2A333|Q6PXP3|carbohydrate_%20_transport_%20_(GO:0008643)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|substrate-specific_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0022891)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9079319 exm1918946 T A . PASS FUNCOTATION=[SLC2A7|hg19|chr1|9079319|9079319|NONSENSE||SNP|T|T|A|g.chr1:9079319T>A|ENST00000400906.1|-|4|385|c.385A>T|c.(385-387)Aag>Tag|p.K129*|0.5985037406483791|TCAAAAGCCTTGGCCACTTTG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471130|NM_207420.2|NP_997303.2|HGNC:13445|solute_%20_carrier_%20_family_%20_2_%20_member_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_2_%20_(facilitated_%20_glucose_%20_transporter)_%2C__%20_member_%20_7"|GLUT7|"intestinal_%20_facilitative_%20_glucose_%20_transporter_%20_7"|1p36.23|2016-10-05||2016-02-17|AL356306||155184|ENSG00000197241|11780753|NM_207420|752|Solute_%20_carriers|CCDS98|OTTHUMG00000057499|155184|610371|NM_207420|Q6PXP3|ENSG00000197241|uc009vmo.1|GTR7_HUMAN||A2A333|Q6PXP3|carbohydrate_%20_transport_%20_(GO:0008643)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|substrate-specific_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0022891)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9083101 newrs148511942 G A . PASS FUNCOTATION=[SLC2A7|hg19|chr1|9083101|9083101|NONSENSE||SNP|G|G|A|g.chr1:9083101G>A|ENST00000400906.1|-|3|187|c.187C>T|c.(187-189)Cga>Tga|p.R63*|0.4713216957605985|GTTGCGTGTCGCTCAAAGTAG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471130|NM_207420.2|NP_997303.2|HGNC:13445|solute_%20_carrier_%20_family_%20_2_%20_member_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_2_%20_(facilitated_%20_glucose_%20_transporter)_%2C__%20_member_%20_7"|GLUT7|"intestinal_%20_facilitative_%20_glucose_%20_transporter_%20_7"|1p36.23|2016-10-05||2016-02-17|AL356306||155184|ENSG00000197241|11780753|NM_207420|752|Solute_%20_carriers|CCDS98|OTTHUMG00000057499|155184|610371|NM_207420|Q6PXP3|ENSG00000197241|uc009vmo.1|GTR7_HUMAN||A2A333|Q6PXP3|carbohydrate_%20_transport_%20_(GO:0008643)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|substrate-specific_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0022891)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9095610 exm2268650 T C . PASS FUNCOTATION=[SLC2A5|hg19|chr1|9095610|9095610|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:9095610T>C|ENST00000377424.4|-|12|||||0.46633416458852867|GCCACCAGCCTCTGCCACCCA||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U11843|NM_003039.2|NP_003030.1|HGNC:11010|solute_%20_carrier_%20_family_%20_2_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GLUT5|"solute_%20_carrier_%20_family_%20_2_%20_(facilitated_%20_glucose/fructose_%20_transporter)_%2C__%20_member_%20_5"|||1p36.23|2016-10-05||2016-02-17|BC001820||6518|ENSG00000142583|9691177|NM_003039|752|Solute_%20_carriers|CCDS99_%2C__%20_CCDS44054|OTTHUMG00000001771|6518|138230|NM_001135585|P22732|ENSG00000142583|uc001apo.4|GTR5_HUMAN||Q14770_%7C_Q5T977_%7C_Q8IVB3|P22732|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cellular_%20_response_%20_to_%20_fructose_%20_stimulus_%20_(GO:0071332)_%7C_fructose_%20_transport_%20_(GO:0015755)_%7C_glucose_%20_transport_%20_(GO:0015758)_%7C_hexose_%20_transport_%20_(GO:0008645)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|fructose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005353)_%7C_glucose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005355)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9097241 rs5840 C T . PASS FUNCOTATION=[SLC2A5|hg19|chr1|9097241|9097241|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:9097241C>T|ENST00000377424.4|-|12|||||0.4613466334164589|GAAGACCTGTCGGGGCCACCA|SLC2A5_ENST00000536305.1_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U11843|NM_003039.2|NP_003030.1|HGNC:11010|solute_%20_carrier_%20_family_%20_2_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GLUT5|"solute_%20_carrier_%20_family_%20_2_%20_(facilitated_%20_glucose/fructose_%20_transporter)_%2C__%20_member_%20_5"|||1p36.23|2016-10-05||2016-02-17|BC001820||6518|ENSG00000142583|9691177|NM_003039|752|Solute_%20_carriers|CCDS99_%2C__%20_CCDS44054|OTTHUMG00000001771|6518|138230|NM_001135585|P22732|ENSG00000142583|uc001apo.4|GTR5_HUMAN||Q14770_%7C_Q5T977_%7C_Q8IVB3|P22732|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cellular_%20_response_%20_to_%20_fructose_%20_stimulus_%20_(GO:0071332)_%7C_fructose_%20_transport_%20_(GO:0015755)_%7C_glucose_%20_transport_%20_(GO:0015758)_%7C_hexose_%20_transport_%20_(GO:0008645)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|fructose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005353)_%7C_glucose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005355)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9097251 kgp9153910 A G . PASS FUNCOTATION=[SLC2A5|hg19|chr1|9097251|9097251|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:9097251A>G|ENST00000377424.4|-|12|||||0.46384039900249374|CGGGGCCACCAAGTTAGTTTC|SLC2A5_ENST00000536305.1_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U11843|NM_003039.2|NP_003030.1|HGNC:11010|solute_%20_carrier_%20_family_%20_2_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GLUT5|"solute_%20_carrier_%20_family_%20_2_%20_(facilitated_%20_glucose/fructose_%20_transporter)_%2C__%20_member_%20_5"|||1p36.23|2016-10-05||2016-02-17|BC001820||6518|ENSG00000142583|9691177|NM_003039|752|Solute_%20_carriers|CCDS99_%2C__%20_CCDS44054|OTTHUMG00000001771|6518|138230|NM_001135585|P22732|ENSG00000142583|uc001apo.4|GTR5_HUMAN||Q14770_%7C_Q5T977_%7C_Q8IVB3|P22732|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cellular_%20_response_%20_to_%20_fructose_%20_stimulus_%20_(GO:0071332)_%7C_fructose_%20_transport_%20_(GO:0015755)_%7C_glucose_%20_transport_%20_(GO:0015758)_%7C_hexose_%20_transport_%20_(GO:0008645)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|fructose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005353)_%7C_glucose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005355)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9097696 exm11736 G C . PASS FUNCOTATION=[SLC2A5|hg19|chr1|9097696|9097696|NONSENSE||SNP|G|G|C|g.chr1:9097696G>C|ENST00000377424.4|-|12|1635|c.1455C>G|c.(1453-1455)taC>taG|p.Y485*|0.5286783042394015|CCTTTTCCGGGTACACTTCAG|SLC2A5_ENST00000536305.1_NONSENSE_p.Y426*/SLC2A5_ENST00000535586.1_NONSENSE_p.Y370*|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U11843|NM_003039.2|NP_003030.1|HGNC:11010|solute_%20_carrier_%20_family_%20_2_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GLUT5|"solute_%20_carrier_%20_family_%20_2_%20_(facilitated_%20_glucose/fructose_%20_transporter)_%2C__%20_member_%20_5"|||1p36.23|2016-10-05||2016-02-17|BC001820||6518|ENSG00000142583|9691177|NM_003039|752|Solute_%20_carriers|CCDS99_%2C__%20_CCDS44054|OTTHUMG00000001771|6518|138230|NM_001135585|P22732|ENSG00000142583|uc001apo.4|GTR5_HUMAN||Q14770_%7C_Q5T977_%7C_Q8IVB3|P22732|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cellular_%20_response_%20_to_%20_fructose_%20_stimulus_%20_(GO:0071332)_%7C_fructose_%20_transport_%20_(GO:0015755)_%7C_glucose_%20_transport_%20_(GO:0015758)_%7C_hexose_%20_transport_%20_(GO:0008645)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|fructose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005353)_%7C_glucose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005355)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9117596 kgp15820906 C T . PASS FUNCOTATION=[SLC2A5|hg19|chr1|9117596|9117596|SILENT||SNP|C|C|T|g.chr1:9117596C>T|ENST00000377424.4|-|3|384|c.204G>A|c.(202-204)acG>acA|p.T68T|0.43640897755610975|ACCACAGCAACGTCAAGGGGA|SLC2A5_ENST00000377414.3_SILENT_p.T68T/SLC2A5_ENST00000535586.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U11843|NM_003039.2|NP_003030.1|HGNC:11010|solute_%20_carrier_%20_family_%20_2_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GLUT5|"solute_%20_carrier_%20_family_%20_2_%20_(facilitated_%20_glucose/fructose_%20_transporter)_%2C__%20_member_%20_5"|||1p36.23|2016-10-05||2016-02-17|BC001820||6518|ENSG00000142583|9691177|NM_003039|752|Solute_%20_carriers|CCDS99_%2C__%20_CCDS44054|OTTHUMG00000001771|6518|138230|NM_001135585|P22732|ENSG00000142583|uc001apo.4|GTR5_HUMAN||Q14770_%7C_Q5T977_%7C_Q8IVB3|P22732|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cellular_%20_response_%20_to_%20_fructose_%20_stimulus_%20_(GO:0071332)_%7C_fructose_%20_transport_%20_(GO:0015755)_%7C_glucose_%20_transport_%20_(GO:0015758)_%7C_hexose_%20_transport_%20_(GO:0008645)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|fructose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005353)_%7C_glucose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005355)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9118247 exm1921670 A C . PASS FUNCOTATION=[SLC2A5|hg19|chr1|9118247|9118247|NONSENSE||SNP|A|A|C|g.chr1:9118247A>C|ENST00000377424.4|-|2|276|c.96T>G|c.(94-96)taT>taG|p.Y32*|0.5660847880299252|CGTTGTACCCATACTGGAAGG|SLC2A5_ENST00000377414.3_NONSENSE_p.Y32*/SLC2A5_ENST00000535586.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U11843|NM_003039.2|NP_003030.1|HGNC:11010|solute_%20_carrier_%20_family_%20_2_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GLUT5|"solute_%20_carrier_%20_family_%20_2_%20_(facilitated_%20_glucose/fructose_%20_transporter)_%2C__%20_member_%20_5"|||1p36.23|2016-10-05||2016-02-17|BC001820||6518|ENSG00000142583|9691177|NM_003039|752|Solute_%20_carriers|CCDS99_%2C__%20_CCDS44054|OTTHUMG00000001771|6518|138230|NM_001135585|P22732|ENSG00000142583|uc001apo.4|GTR5_HUMAN||Q14770_%7C_Q5T977_%7C_Q8IVB3|P22732|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cellular_%20_response_%20_to_%20_fructose_%20_stimulus_%20_(GO:0071332)_%7C_fructose_%20_transport_%20_(GO:0015755)_%7C_glucose_%20_transport_%20_(GO:0015758)_%7C_hexose_%20_transport_%20_(GO:0008645)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|fructose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005353)_%7C_glucose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005355)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9129620 kgp4856177 C T . PASS FUNCOTATION=[SLC2A5|hg19|chr1|9129620|9129620|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:9129620C>T|ENST00000377424.4|-|1|||||0.5261845386533666|GGCAGAGTGCCGCTCACCTCC|SLC2A5_ENST00000377414.3_FIVE_PRIME_UTR/SLC2A5_ENST00000535586.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U11843|NM_003039.2|NP_003030.1|HGNC:11010|solute_%20_carrier_%20_family_%20_2_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GLUT5|"solute_%20_carrier_%20_family_%20_2_%20_(facilitated_%20_glucose/fructose_%20_transporter)_%2C__%20_member_%20_5"|||1p36.23|2016-10-05||2016-02-17|BC001820||6518|ENSG00000142583|9691177|NM_003039|752|Solute_%20_carriers|CCDS99_%2C__%20_CCDS44054|OTTHUMG00000001771|6518|138230|NM_001135585|P22732|ENSG00000142583|uc001apo.4|GTR5_HUMAN||Q14770_%7C_Q5T977_%7C_Q8IVB3|P22732|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cellular_%20_response_%20_to_%20_fructose_%20_stimulus_%20_(GO:0071332)_%7C_fructose_%20_transport_%20_(GO:0015755)_%7C_glucose_%20_transport_%20_(GO:0015758)_%7C_hexose_%20_transport_%20_(GO:0008645)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|fructose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005353)_%7C_glucose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005355)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9164133 rs3737669 G A . PASS FUNCOTATION=[GPR157|hg19|chr1|9164133|9164133|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:9164133G>A|ENST00000377411.4|-|4|||||0.5586034912718204|GGGTCCCTCAGATTGTAAACA||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||AY768808|NM_024980.4|NP_079256.4|HGNC:23687|G_%20_protein-coupled_%20_receptor_%20_157|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ12132||1p36.22|2015-08-25|||AK022194||80045|ENSG00000180758|10574461|NM_024980|310|7TM_%20_orphan_%20_receptors|CCDS100|OTTHUMG00000001758|80045||NM_024980|Q5UAW9|ENSG00000180758|uc001apq.2|GP157_HUMAN||A2A334_%7C_Q8WWB8_%7C_Q9HA73|Q5UAW9||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9171336 exm11874 G A . PASS FUNCOTATION=[GPR157|hg19|chr1|9171336|9171336|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:9171336G>A|ENST00000377411.4|-|2|739|c.596C>T|c.(595-597)gCg>gTg|p.A199V|0.6084788029925187|AGCGCCTACCGCTCTGTTGAT|GPR157_ENST00000414642.2_SPLICE_SITE_p.A199V|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||AY768808|NM_024980.4|NP_079256.4|HGNC:23687|G_%20_protein-coupled_%20_receptor_%20_157|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ12132||1p36.22|2015-08-25|||AK022194||80045|ENSG00000180758|10574461|NM_024980|310|7TM_%20_orphan_%20_receptors|CCDS100|OTTHUMG00000001758|80045||NM_024980|Q5UAW9|ENSG00000180758|uc001apq.2|GP157_HUMAN||A2A334_%7C_Q8WWB8_%7C_Q9HA73|Q5UAW9||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9250991 rs10864392 C T . PASS FUNCOTATION=[RP3-510D11.2|hg19|chr1|9250991|9250991|LINCRNA||SNP|C|C|T|g.chr1:9250991C>T|ENST00000412639.2|+|||c.e3-461C>T|||0.5236907730673317|TGCCGATTGACAAGGCCTTTT|RP3-510D11.1_ENST00000437157.2_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9256200 rs4908823 G A . PASS FUNCOTATION=[RP3-510D11.1|hg19|chr1|9256200|9256200|LINCRNA||SNP|G|G|A|g.chr1:9256200G>A|ENST00000437157.2|-|||c.e1-6438C>T|||0.5361596009975063|ATCCATGAGGGCTCCTGTCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9307033 rs7524046 G A . PASS FUNCOTATION=[H6PD|hg19|chr1|9307033|9307033|SILENT||SNP|G|G|A|g.chr1:9307033G>A|ENST00000377403.2|+|3|938|c.636G>A|c.(634-636)gcG>gcA|p.A212A|0.5910224438902744|AGGCTGTGGCGCAGATCCTGC|H6PD_ENST00000602477.1_SILENT_p.A223A|||||||||||||||||||||||||93|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(2)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||Z98044|NM_004285.3|NP_004276.2|HGNC:4795|hexose-6-phosphate_%20_dehydrogenase/glucose_%20_1-dehydrogenase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GDH|"glucose_%20_dehyrogenase"_%2C__%20_"hexose-6-phosphate_%20_dehydrogenase_%20_(glucose_%20_1-dehydrogenase)"||"GDH/6PGL_%20_endoplasmic_%20_bifunctional_%20_protein"|1p36.22|2016-10-05||2016-04-05|AJ012590|1.1.1.47|9563|ENSG00000049239|10349511|NM_004285|||CCDS101_%2C__%20_CCDS72697|OTTHUMG00000001768|9563|138090|NM_001282587|O95479|ENSG00000049239|uc001apt.4|G6PE_HUMAN||Q4TT33_%7C_Q66I35_%7C_Q68DT3|O95479|pentose-phosphate_%20_shunt_%20_(GO:0006098)_%7C_response_%20_to_%20_alcohol_%20_(GO:0097305)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_mitochondrion_%20_(GO:0005739)|6-phosphogluconolactonase_%20_activity_%20_(GO:0017057)_%7C_carbohydrate_%20_binding_%20_(GO:0030246)_%7C_glucose_%20_1-dehydrogenase_%20_[NAD(P)]_%20_activity_%20_(GO:0047936)_%7C_glucose-6-phosphate_%20_dehydrogenase_%20_activity_%20_(GO:0004345)_%7C_NADP_%20_binding_%20_(GO:0050661)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9324385 exm12065 G A . PASS FUNCOTATION=[H6PD|hg19|chr1|9324385|9324385|NONSENSE||SNP|G|G|A|g.chr1:9324385G>A|ENST00000377403.2|+|5|2135|c.1833G>A|c.(1831-1833)tgG>tgA|p.W611*|0.6658354114713217|GCTTCCCCTGGGCCCACACGC|H6PD_ENST00000602477.1_NONSENSE_p.W622*/H6PD_ENST00000495451.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||93|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(2)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||Z98044|NM_004285.3|NP_004276.2|HGNC:4795|hexose-6-phosphate_%20_dehydrogenase/glucose_%20_1-dehydrogenase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GDH|"glucose_%20_dehyrogenase"_%2C__%20_"hexose-6-phosphate_%20_dehydrogenase_%20_(glucose_%20_1-dehydrogenase)"||"GDH/6PGL_%20_endoplasmic_%20_bifunctional_%20_protein"|1p36.22|2016-10-05||2016-04-05|AJ012590|1.1.1.47|9563|ENSG00000049239|10349511|NM_004285|||CCDS101_%2C__%20_CCDS72697|OTTHUMG00000001768|9563|138090|NM_001282587|O95479|ENSG00000049239|uc001apt.4|G6PE_HUMAN||Q4TT33_%7C_Q66I35_%7C_Q68DT3|O95479|pentose-phosphate_%20_shunt_%20_(GO:0006098)_%7C_response_%20_to_%20_alcohol_%20_(GO:0097305)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_mitochondrion_%20_(GO:0005739)|6-phosphogluconolactonase_%20_activity_%20_(GO:0017057)_%7C_carbohydrate_%20_binding_%20_(GO:0030246)_%7C_glucose_%20_1-dehydrogenase_%20_[NAD(P)]_%20_activity_%20_(GO:0047936)_%7C_glucose-6-phosphate_%20_dehydrogenase_%20_activity_%20_(GO:0004345)_%7C_NADP_%20_binding_%20_(GO:0050661)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9326132 rs17033642 A C . PASS FUNCOTATION=[H6PD|hg19|chr1|9326132|9326132|THREE_PRIME_UTR||SNP|A|A|C|g.chr1:9326132A>C|ENST00000377403.2|+|5|||||0.5985037406483791|GATCCAGTTAAATCACCCACT|H6PD_ENST00000602477.1_THREE_PRIME_UTR/H6PD_ENST00000495451.1_INTRON|||||||||||||||||||||||||93|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(2)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||Z98044|NM_004285.3|NP_004276.2|HGNC:4795|hexose-6-phosphate_%20_dehydrogenase/glucose_%20_1-dehydrogenase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GDH|"glucose_%20_dehyrogenase"_%2C__%20_"hexose-6-phosphate_%20_dehydrogenase_%20_(glucose_%20_1-dehydrogenase)"||"GDH/6PGL_%20_endoplasmic_%20_bifunctional_%20_protein"|1p36.22|2016-10-05||2016-04-05|AJ012590|1.1.1.47|9563|ENSG00000049239|10349511|NM_004285|||CCDS101_%2C__%20_CCDS72697|OTTHUMG00000001768|9563|138090|NM_001282587|O95479|ENSG00000049239|uc001apt.4|G6PE_HUMAN||Q4TT33_%7C_Q66I35_%7C_Q68DT3|O95479|pentose-phosphate_%20_shunt_%20_(GO:0006098)_%7C_response_%20_to_%20_alcohol_%20_(GO:0097305)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_mitochondrion_%20_(GO:0005739)|6-phosphogluconolactonase_%20_activity_%20_(GO:0017057)_%7C_carbohydrate_%20_binding_%20_(GO:0030246)_%7C_glucose_%20_1-dehydrogenase_%20_[NAD(P)]_%20_activity_%20_(GO:0047936)_%7C_glucose-6-phosphate_%20_dehydrogenase_%20_activity_%20_(GO:0004345)_%7C_NADP_%20_binding_%20_(GO:0050661)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9327413 rs11121354 T G . PASS FUNCOTATION=[H6PD|hg19|chr1|9327413|9327413|THREE_PRIME_UTR||SNP|T|T|G|g.chr1:9327413T>G|ENST00000377403.2|+|5|||||0.6234413965087282|GTGCCGGATTTCATTTCCCTC|H6PD_ENST00000602477.1_THREE_PRIME_UTR/H6PD_ENST00000495451.1_INTRON|||||||||||||||||||||||||93|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(2)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||Z98044|NM_004285.3|NP_004276.2|HGNC:4795|hexose-6-phosphate_%20_dehydrogenase/glucose_%20_1-dehydrogenase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GDH|"glucose_%20_dehyrogenase"_%2C__%20_"hexose-6-phosphate_%20_dehydrogenase_%20_(glucose_%20_1-dehydrogenase)"||"GDH/6PGL_%20_endoplasmic_%20_bifunctional_%20_protein"|1p36.22|2016-10-05||2016-04-05|AJ012590|1.1.1.47|9563|ENSG00000049239|10349511|NM_004285|||CCDS101_%2C__%20_CCDS72697|OTTHUMG00000001768|9563|138090|NM_001282587|O95479|ENSG00000049239|uc001apt.4|G6PE_HUMAN||Q4TT33_%7C_Q66I35_%7C_Q68DT3|O95479|pentose-phosphate_%20_shunt_%20_(GO:0006098)_%7C_response_%20_to_%20_alcohol_%20_(GO:0097305)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_mitochondrion_%20_(GO:0005739)|6-phosphogluconolactonase_%20_activity_%20_(GO:0017057)_%7C_carbohydrate_%20_binding_%20_(GO:0030246)_%7C_glucose_%20_1-dehydrogenase_%20_[NAD(P)]_%20_activity_%20_(GO:0047936)_%7C_glucose-6-phosphate_%20_dehydrogenase_%20_activity_%20_(GO:0004345)_%7C_NADP_%20_binding_%20_(GO:0050661)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9427508 exm1939653 C T . PASS FUNCOTATION=[SPSB1|hg19|chr1|9427508|9427508|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:9427508C>T|ENST00000328089.6|+|3|1037|c.696C>T|c.(694-696)ccC>ccT|p.P232P|0.5835411471321695|TCTCCCCAGCCGAGCCGCTGC|SPSB1_ENST00000357898.3_SPLICE_SITE_p.P232P/SPSB1_ENST00000377399.2_SPLICE_SITE_p.P232P|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471130|NM_025106.3|NP_079382.2|HGNC:30628|splA/ryanodine_%20_receptor_%20_domain_%20_and_%20_SOCS_%20_box_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SSB-1||1p36.22|2014-11-19|||||80176|ENSG00000171621|15713673_%2C__%20_12076535|NM_025106|||CCDS102|OTTHUMG00000001279|80176|611657|NM_025106|Q96BD6|ENSG00000171621|uc010oae.3|SPSB1_HUMAN||A2A275_%7C_Q59FA1_%7C_Q5TIH9_%7C_Q9BRY9_%7C_Q9H6C5|Q96BD6|intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|cytoplasm_%20_(GO:0005737)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9427508 exm1939653 C T . PASS FUNCOTATION=[SPSB1|hg19|chr1|9427508|9427508|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:9427508C>T|ENST00000328089.6|+|3|1037|c.696C>T|c.(694-696)ccC>ccT|p.P232P|0.5835411471321695|TCTCCCCAGCCGAGCCGCTGC|SPSB1_ENST00000357898.3_SPLICE_SITE_p.P232P/SPSB1_ENST00000377399.2_SPLICE_SITE_p.P232P|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471130|NM_025106.3|NP_079382.2|HGNC:30628|splA/ryanodine_%20_receptor_%20_domain_%20_and_%20_SOCS_%20_box_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SSB-1||1p36.22|2014-11-19|||||80176|ENSG00000171621|15713673_%2C__%20_12076535|NM_025106|||CCDS102|OTTHUMG00000001279|80176|611657|NM_025106|Q96BD6|ENSG00000171621|uc010oae.3|SPSB1_HUMAN||A2A275_%7C_Q59FA1_%7C_Q5TIH9_%7C_Q9BRY9_%7C_Q9H6C5|Q96BD6|intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|cytoplasm_%20_(GO:0005737)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9427869 rs2275457 G A . PASS FUNCOTATION=[SPSB1|hg19|chr1|9427869|9427869|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:9427869G>A|ENST00000328089.6|+|3|||||0.6059850374064838|CATGCCGTCCGTATACAACCC|SPSB1_ENST00000357898.3_THREE_PRIME_UTR|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471130|NM_025106.3|NP_079382.2|HGNC:30628|splA/ryanodine_%20_receptor_%20_domain_%20_and_%20_SOCS_%20_box_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SSB-1||1p36.22|2014-11-19|||||80176|ENSG00000171621|15713673_%2C__%20_12076535|NM_025106|||CCDS102|OTTHUMG00000001279|80176|611657|NM_025106|Q96BD6|ENSG00000171621|uc010oae.3|SPSB1_HUMAN||A2A275_%7C_Q59FA1_%7C_Q5TIH9_%7C_Q9BRY9_%7C_Q9H6C5|Q96BD6|intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|cytoplasm_%20_(GO:0005737)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9428520 psy_rs41301983 G A . PASS FUNCOTATION=[SPSB1|hg19|chr1|9428520|9428520|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:9428520G>A|ENST00000328089.6|+|3|||||0.5610972568578554|GGGTGTCTTCGGGGGCCCGTC||||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471130|NM_025106.3|NP_079382.2|HGNC:30628|splA/ryanodine_%20_receptor_%20_domain_%20_and_%20_SOCS_%20_box_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SSB-1||1p36.22|2014-11-19|||||80176|ENSG00000171621|15713673_%2C__%20_12076535|NM_025106|||CCDS102|OTTHUMG00000001279|80176|611657|NM_025106|Q96BD6|ENSG00000171621|uc010oae.3|SPSB1_HUMAN||A2A275_%7C_Q59FA1_%7C_Q5TIH9_%7C_Q9BRY9_%7C_Q9H6C5|Q96BD6|intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|cytoplasm_%20_(GO:0005737)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9562830 rs7550613 G A . PASS FUNCOTATION=[RP13-392I16.1|hg19|chr1|9562830|9562830|LINCRNA||SNP|G|G|A|g.chr1:9562830G>A|ENST00000441033.1|-|||c.e1-450C>T|||0.4613466334164589|CACCTACTTCGGGGCTGAGGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9640291 exm12193 C T . PASS FUNCOTATION=[SLC25A33|hg19|chr1|9640291|9640291|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:9640291C>T|ENST00000302692.6|+|6|972|c.762C>T|c.(760-762)caC>caT|p.H254H|0.4488778054862843|CTTATCCACACGGTATGTTTT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC073135|NM_032315.2|NP_115691.1|HGNC:29681|solute_%20_carrier_%20_family_%20_25_%20_member_%20_33|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_25_%2C__%20_member_%20_33"_%2C__%20_"solute_%20_carrier_%20_family_%20_25_%20_(pyrimidine_%20_nucleotide_%20_carrier)_%2C__%20_member_%20_33"|MGC4399_%2C__%20_BMSC-MCP_%2C__%20_PNC1||1p36.22|2016-02-18||2016-02-18|AF495714||84275|ENSG00000171612|14715278_%2C__%20_16949250|NM_032315|752|Solute_%20_carriers|CCDS103|OTTHUMG00000001322|84275|610816|NM_032315|Q9BSK2|ENSG00000171612|uc001apw.4|S2533_HUMAN|||Q9BSK2|transport_%20_(GO:0006810)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9640291 exm12193 C T . PASS FUNCOTATION=[SLC25A33|hg19|chr1|9640291|9640291|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:9640291C>T|ENST00000302692.6|+|6|972|c.762C>T|c.(760-762)caC>caT|p.H254H|0.4488778054862843|CTTATCCACACGGTATGTTTT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC073135|NM_032315.2|NP_115691.1|HGNC:29681|solute_%20_carrier_%20_family_%20_25_%20_member_%20_33|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_25_%2C__%20_member_%20_33"_%2C__%20_"solute_%20_carrier_%20_family_%20_25_%20_(pyrimidine_%20_nucleotide_%20_carrier)_%2C__%20_member_%20_33"|MGC4399_%2C__%20_BMSC-MCP_%2C__%20_PNC1||1p36.22|2016-02-18||2016-02-18|AF495714||84275|ENSG00000171612|14715278_%2C__%20_16949250|NM_032315|752|Solute_%20_carriers|CCDS103|OTTHUMG00000001322|84275|610816|NM_032315|Q9BSK2|ENSG00000171612|uc001apw.4|S2533_HUMAN|||Q9BSK2|transport_%20_(GO:0006810)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9713386 rs4240895 C T . PASS FUNCOTATION=[C1orf200|hg19|chr1|9713386|9713386|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:9713386C>T|ENST00000377320.3|-|2|||||0.5062344139650873|GTGATTTCAGCTGGACAACTG|PIK3CD_ENST00000377346.4_INTRON/PIK3CD_ENST00000536656.1_INTRON|||||||||||||||||||||||||||||||||CH471130||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9713899 variant.673 G A . PASS FUNCOTATION=[C1orf200|hg19|chr1|9713899|9713899|NONSENSE||SNP|G|G|A|g.chr1:9713899G>A|ENST00000377320.3|-|2|592|c.442C>T|c.(442-444)Cag>Tag|p.Q148*|0.516209476309227|GCGGCTTCCTGGGCTTGGTCC|PIK3CD_ENST00000377346.4_INTRON/PIK3CD_ENST00000536656.1_INTRON|||||||||||||||||||||||||||||||||CH471130||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9784435 exm2254097 T C . PASS FUNCOTATION=[PIK3CD|hg19|chr1|9784435|9784435|SILENT||SNP|T|T|C|g.chr1:9784435T>C|ENST00000377346.4|+|22|3015|c.2820T>C|c.(2818-2820)caT>caC|p.H940H|0.5760598503740648|ACTTTGTCCATGTGATTCAGC|PIK3CD_ENST00000361110.2_SILENT_p.H964H/PIK3CD_ENST00000536656.1_SILENT_p.H964H|||||||||||||||||||||||||1402|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(299)_%7C_kidney(112)_%7C_large_intestine(11)_%7C_lung(323)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_stomach(135)_%7C_upper_aerodigestive_tract(121)|||||||Y10055|NM_005026.3|NP_005017.3|HGNC:8977|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_delta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_delta_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_delta"|p110D|"phosphatidylinositol_%20_3-kinase_%2C__%20_catalytic_%2C__%20_delta_%20_polypeptide"_%2C__%20_"phosphoinositide-3-kinase_%20_C"|1p36.22|2017-03-24||2015-11-17||2.7.1.153|5293|ENSG00000171608|9113989_%2C__%20_9455486|NM_005026|831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS104|OTTHUMG00000001450|5293|602839|NM_005026|O00329|ENSG00000171608|uc001aqb.5|PK3CD_HUMAN|Caffeine(DB00201)|A6NCG0_%7C_G1FFP1_%7C_O15445_%7C_Q5SR49|O00329|adaptive_%20_immune_%20_response_%20_(GO:0002250)_%7C_B_%20_cell_%20_activation_%20_(GO:0042113)_%7C_B_%20_cell_%20_chemotaxis_%20_(GO:0035754)_%7C_B_%20_cell_%20_homeostasis_%20_(GO:0001782)_%7C_B_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050853)_%7C_cytokine_%20_production_%20_(GO:0001816)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_mast_%20_cell_%20_chemotaxis_%20_(GO:0002551)_%7C_mast_%20_cell_%20_degranulation_%20_(GO:0043303)_%7C_mast_%20_cell_%20_differentiation_%20_(GO:0060374)_%7C_natural_%20_killer_%20_cell_%20_activation_%20_(GO:0030101)_%7C_natural_%20_killer_%20_cell_%20_chemotaxis_%20_(GO:0035747)_%7C_natural_%20_killer_%20_cell_%20_differentiation_%20_(GO:0001779)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_neutrophil_%20_chemotaxis_%20_(GO:0030593)_%7C_neutrophil_%20_extravasation_%20_(GO:0072672)_%7C_phosphatidylinositol_%20_3-kinase_%20_signaling_%20_(GO:0014065)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol-3-phosphate_%20_biosynthetic_%20_process_%20_(GO:0036092)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_respiratory_%20_burst_%20_involved_%20_in_%20_defense_%20_response_%20_(GO:0002679)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_activation_%20_(GO:0042110)_%7C_T_%20_cell_%20_chemotaxis_%20_(GO:0010818)_%7C_T_%20_cell_%20_differentiation_%20_(GO:0030217)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)|cytosol_%20_(GO:0005829)_%7C_mast_%20_cell_%20_granule_%20_(GO:0042629)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9811597 var_1_9811597 G A . PASS FUNCOTATION=[CLSTN1|hg19|chr1|9811597|9811597|NONSENSE||SNP|G|G|A|g.chr1:9811597G>A|ENST00000377298.4|-|5|1376|c.583C>T|c.(583-585)Cag>Tag|p.Q195*|0.49875311720698257|TGGCTGAACTGAGGGGAGCAG|CLSTN1_ENST00000361311.4_NONSENSE_p.Q185*/CLSTN1_ENST00000377288.3_NONSENSE_p.Q195*|||||||||||||||||||||||||620|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(232)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||BC033902|NM_001009566.1|NP_001009566.1|HGNC:17447|calsyntenin_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CSTN1_%2C__%20_KIAA0911_%2C__%20_CDHR12|"cadherin-related_%20_family_%20_member_%20_12"|1p36.22|2015-09-11|||AB020718||22883|ENSG00000171603|10048485||24|Cadherin_%20_related|CCDS105_%2C__%20_CCDS30580|OTTHUMG00000001451|22883|611321|NM_001009566|O94985|ENSG00000171603|uc001aqi.4|CSTN1_HUMAN||A8K183_%7C_Q5SR52_%7C_Q5UE58_%7C_Q71MN0_%7C_Q8N4K9|O94985|cell_%20_adhesion_%20_(GO:0007155)_%7C_homophilic_%20_cell_%20_adhesion_%20_(GO:0007156)|cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_projection_%20_(GO:0042995)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|beta-amyloid_%20_binding_%20_(GO:0001540)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_kinesin_%20_binding_%20_(GO:0019894)_%7C_X11-like_%20_protein_%20_binding_%20_(GO:0042988)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9833451 exm12665 A G . PASS FUNCOTATION=[CLSTN1|hg19|chr1|9833451|9833451|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:9833451A>G|ENST00000377298.4|-|2|886|c.93T>C|c.(91-93)gtT>gtC|p.V31V|0.4339152119700748|TGTGCTTGTTAACTGTGTTTA|CLSTN1_ENST00000361311.4_SPLICE_SITE_p.V31V/CLSTN1_ENST00000377288.3_SPLICE_SITE_p.V31V|||||||||||||||||||||||||620|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(232)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||BC033902|NM_001009566.1|NP_001009566.1|HGNC:17447|calsyntenin_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CSTN1_%2C__%20_KIAA0911_%2C__%20_CDHR12|"cadherin-related_%20_family_%20_member_%20_12"|1p36.22|2015-09-11|||AB020718||22883|ENSG00000171603|10048485||24|Cadherin_%20_related|CCDS105_%2C__%20_CCDS30580|OTTHUMG00000001451|22883|611321|NM_001009566|O94985|ENSG00000171603|uc001aqi.4|CSTN1_HUMAN||A8K183_%7C_Q5SR52_%7C_Q5UE58_%7C_Q71MN0_%7C_Q8N4K9|O94985|cell_%20_adhesion_%20_(GO:0007155)_%7C_homophilic_%20_cell_%20_adhesion_%20_(GO:0007156)|cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_projection_%20_(GO:0042995)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|beta-amyloid_%20_binding_%20_(GO:0001540)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_kinesin_%20_binding_%20_(GO:0019894)_%7C_X11-like_%20_protein_%20_binding_%20_(GO:0042988)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9909721 rs7539650 G A . PASS FUNCOTATION=[CTNNBIP1|hg19|chr1|9909721|9909721|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:9909721G>A|ENST00000377263.1|-|6|||||0.6084788029925187|CCAAAATGAGGCCTCAGGAAG|CTNNBIP1_ENST00000537447.1_THREE_PRIME_UTR/RP11-84A14.5_ENST00000454104.1_RNA|||||||||||||||||||||||||184|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471130|NM_020248.2|NP_064633.1|HGNC:16913|catenin_%20_beta_%20_interacting_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"catenin_%2C__%20_beta-interacting_%20_protein_%20_1"_%2C__%20_"catenin_%2C__%20_beta_%20_interacting_%20_protein_%20_1"|ICAT_%2C__%20_MGC15093|"beta-catenin-interacting_%20_protein_%20_ICAT"_%2C__%20_"inhibitor_%20_of_%20_beta-catenin_%20_and_%20_Tcf-4"|1p36.22|2015-11-19||2015-11-19|AB021262||56998|ENSG00000178585|10898789|NM_020248|||CCDS106|OTTHUMG00000001796|56998|607758|NM_001012329|Q9NSA3|ENSG00000178585|uc001aqk.2|CNBP1_HUMAN||Q5T4V2|Q9NSA3|anterior/posterior_%20_pattern_%20_specification_%20_(GO:0009952)_%7C_branching_%20_involved_%20_in_%20_ureteric_%20_bud_%20_morphogenesis_%20_(GO:0001658)_%7C_negative_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043392)_%7C_negative_%20_regulation_%20_of_%20_mesenchymal_%20_cell_%20_proliferation_%20_(GO:0072201)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0043433)_%7C_negative_%20_regulation_%20_of_%20_smooth_%20_muscle_%20_cell_%20_proliferation_%20_(GO:0048662)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0060633)_%7C_negative_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030178)_%7C_positive_%20_regulation_%20_of_%20_monocyte_%20_differentiation_%20_(GO:0045657)_%7C_positive_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045669)_%7C_regulation_%20_of_%20_vascular_%20_permeability_%20_involved_%20_in_%20_acute_%20_inflammatory_%20_response_%20_(GO:0002528)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055)|beta-catenin_%20_destruction_%20_complex_%20_(GO:0030877)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)|armadillo_%20_repeat_%20_domain_%20_binding_%20_(GO:0070016)_%7C_beta-catenin_%20_binding_%20_(GO:0008013)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9931246 exm12673 C A . PASS FUNCOTATION=[CTNNBIP1|hg19|chr1|9931246|9931246|SPLICE_SITE|MISSENSE|SNP|C|C|A|g.chr1:9931246C>A|ENST00000377263.1|-|5|498|c.186G>T|c.(184-186)caG>caT|p.Q62H|0.628428927680798|CCAACTCACCCTGGTCGATGG|CTNNBIP1_ENST00000400904.3_SPLICE_SITE_p.Q62H/CTNNBIP1_ENST00000377258.1_SPLICE_SITE_p.Q62H/CTNNBIP1_ENST00000377256.1_SPLICE_SITE_p.Q62H/CTNNBIP1_ENST00000537447.1_SPLICE_SITE_p.Q62H|||||||||||||||||||||||||184|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471130|NM_020248.2|NP_064633.1|HGNC:16913|catenin_%20_beta_%20_interacting_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"catenin_%2C__%20_beta-interacting_%20_protein_%20_1"_%2C__%20_"catenin_%2C__%20_beta_%20_interacting_%20_protein_%20_1"|ICAT_%2C__%20_MGC15093|"beta-catenin-interacting_%20_protein_%20_ICAT"_%2C__%20_"inhibitor_%20_of_%20_beta-catenin_%20_and_%20_Tcf-4"|1p36.22|2015-11-19||2015-11-19|AB021262||56998|ENSG00000178585|10898789|NM_020248|||CCDS106|OTTHUMG00000001796|56998|607758|NM_001012329|Q9NSA3|ENSG00000178585|uc001aqk.2|CNBP1_HUMAN||Q5T4V2|Q9NSA3|anterior/posterior_%20_pattern_%20_specification_%20_(GO:0009952)_%7C_branching_%20_involved_%20_in_%20_ureteric_%20_bud_%20_morphogenesis_%20_(GO:0001658)_%7C_negative_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043392)_%7C_negative_%20_regulation_%20_of_%20_mesenchymal_%20_cell_%20_proliferation_%20_(GO:0072201)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0043433)_%7C_negative_%20_regulation_%20_of_%20_smooth_%20_muscle_%20_cell_%20_proliferation_%20_(GO:0048662)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0060633)_%7C_negative_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030178)_%7C_positive_%20_regulation_%20_of_%20_monocyte_%20_differentiation_%20_(GO:0045657)_%7C_positive_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045669)_%7C_regulation_%20_of_%20_vascular_%20_permeability_%20_involved_%20_in_%20_acute_%20_inflammatory_%20_response_%20_(GO:0002528)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055)|beta-catenin_%20_destruction_%20_complex_%20_(GO:0030877)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)|armadillo_%20_repeat_%20_domain_%20_binding_%20_(GO:0070016)_%7C_beta-catenin_%20_binding_%20_(GO:0008013)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9932027 exm12680 G A . PASS FUNCOTATION=[CTNNBIP1|hg19|chr1|9932027|9932027|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:9932027G>A|ENST00000377263.1|-|4|408|c.96C>T|c.(94-96)aaC>aaT|p.N32N|0.6334164588528678|AGGCACTCACGTTTGATCCCA|CTNNBIP1_ENST00000400904.3_SPLICE_SITE_p.N32N/CTNNBIP1_ENST00000377258.1_SPLICE_SITE_p.N32N/CTNNBIP1_ENST00000377256.1_SPLICE_SITE_p.N32N/CTNNBIP1_ENST00000537447.1_SPLICE_SITE_p.N32N|||||||||||||||||||||||||184|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471130|NM_020248.2|NP_064633.1|HGNC:16913|catenin_%20_beta_%20_interacting_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"catenin_%2C__%20_beta-interacting_%20_protein_%20_1"_%2C__%20_"catenin_%2C__%20_beta_%20_interacting_%20_protein_%20_1"|ICAT_%2C__%20_MGC15093|"beta-catenin-interacting_%20_protein_%20_ICAT"_%2C__%20_"inhibitor_%20_of_%20_beta-catenin_%20_and_%20_Tcf-4"|1p36.22|2015-11-19||2015-11-19|AB021262||56998|ENSG00000178585|10898789|NM_020248|||CCDS106|OTTHUMG00000001796|56998|607758|NM_001012329|Q9NSA3|ENSG00000178585|uc001aqk.2|CNBP1_HUMAN||Q5T4V2|Q9NSA3|anterior/posterior_%20_pattern_%20_specification_%20_(GO:0009952)_%7C_branching_%20_involved_%20_in_%20_ureteric_%20_bud_%20_morphogenesis_%20_(GO:0001658)_%7C_negative_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043392)_%7C_negative_%20_regulation_%20_of_%20_mesenchymal_%20_cell_%20_proliferation_%20_(GO:0072201)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0043433)_%7C_negative_%20_regulation_%20_of_%20_smooth_%20_muscle_%20_cell_%20_proliferation_%20_(GO:0048662)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0060633)_%7C_negative_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030178)_%7C_positive_%20_regulation_%20_of_%20_monocyte_%20_differentiation_%20_(GO:0045657)_%7C_positive_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045669)_%7C_regulation_%20_of_%20_vascular_%20_permeability_%20_involved_%20_in_%20_acute_%20_inflammatory_%20_response_%20_(GO:0002528)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055)|beta-catenin_%20_destruction_%20_complex_%20_(GO:0030877)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)|armadillo_%20_repeat_%20_domain_%20_binding_%20_(GO:0070016)_%7C_beta-catenin_%20_binding_%20_(GO:0008013)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 9994822 indel.687 CT C . PASS FUNCOTATION=[LZIC|hg19|chr1|9994823|9994823|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:9994823delT|ENST00000377223.1|-|5|582|c.333delA|c.(331-333)gcafs|p.E112fs|0.3516209476309227|ATTTTACCTCTGCTAACCTTG|LZIC_ENST00000377213.1_FRAME_SHIFT_DEL_p.E112fs/LZIC_ENST00000400903.2_FRAME_SHIFT_DEL_p.E112fs/LZIC_ENST00000541052.1_FRAME_SHIFT_DEL_p.E133fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471130|||HGNC:17497|leucine_%20_zipper_%20_and_%20_CTNNBIP1_%20_domain_%20_containing|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC15436||1p36.22|2014-11-18|||AB060688||84328|ENSG00000162441|11712074|NM_032368|||CCDS107|OTTHUMG00000001804|84328|610458|NM_001316973|Q8WZA0|ENSG00000162441|uc001aqo.4|LZIC_HUMAN||B2R6F0_%7C_B4E2N0_%7C_Q96IU1|Q8WZA0|response_%20_to_%20_ionizing_%20_radiation_%20_(GO:0010212)||||||true|false||false|false|||false|false|false|LZIC:84328|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|866608629|9994823|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|147|rs866608629|] -chr1 9996684 exm1958934 C T . PASS FUNCOTATION=[LZIC|hg19|chr1|9996684|9996684|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:9996684C>T|ENST00000377223.1|-|3|||||0.4139650872817955|CCATTTTAATCTCTATGTGAA|LZIC_ENST00000377213.1_FIVE_PRIME_UTR/LZIC_ENST00000400903.2_FIVE_PRIME_UTR/LZIC_ENST00000541052.1_SPLICE_SITE_p.E19E|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471130|||HGNC:17497|leucine_%20_zipper_%20_and_%20_CTNNBIP1_%20_domain_%20_containing|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC15436||1p36.22|2014-11-18|||AB060688||84328|ENSG00000162441|11712074|NM_032368|||CCDS107|OTTHUMG00000001804|84328|610458|NM_001316973|Q8WZA0|ENSG00000162441|uc001aqo.4|LZIC_HUMAN||B2R6F0_%7C_B4E2N0_%7C_Q96IU1|Q8WZA0|response_%20_to_%20_ionizing_%20_radiation_%20_(GO:0010212)||||||true|false||false|false|||false|false|false|LZIC:84328|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|199633051|9996684|false|false|0|false|0|true||false|false|true|SNV|true|0x050000400305040402000100|1|false|137|rs199633051|] -chr1 10042426 variant.688 G A . PASS FUNCOTATION=[NMNAT1|hg19|chr1|10042426|10042426|NONSENSE||SNP|G|G|A|g.chr1:10042426G>A|ENST00000377205.1|+|5|651|c.507G>A|c.(505-507)tgG>tgA|p.W169*|0.45885286783042395|CCAATTTGTGGAAGAGTGAAG|RP11-807G9.2_ENST00000413148.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471130|NM_022787.3|NP_073624.2|HGNC:17877|nicotinamide_%20_nucleotide_%20_adenylyltransferase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|LCA9|"nicotinamide_%20_nucleotide_%20_adenylyltransferase"_%2C__%20_"Leber_%20_congenital_%20_amaurosis_%20_9"_%2C__%20_"Leber's_%20_congenital_%20_amaurosis_%20_9"|NMNAT_%2C__%20_PNAT1||1p36.22|2014-11-19|2003-05-02|2003-04-30|AF312734|2.7.7.1|64802|ENSG00000173614|11248244_%2C__%20_11027696_%2C__%20_22842227||||CCDS108_%2C__%20_CCDS72698|OTTHUMG00000001799|64802|608700|NM_001297778|Q9HAN9|ENSG00000173614|uc001aqp.3|NMNA1_HUMAN||B1AN63_%7C_Q8TAE9_%7C_Q9H247_%7C_Q9H6B6|Q9HAN9|NAD_%20_biosynthetic_%20_process_%20_(GO:0009435)_%7C_NAD_%20_metabolic_%20_process_%20_(GO:0019674)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_nicotinamide-nucleotide_%20_adenylyltransferase_%20_activity_%20_(GO:0000309)_%7C_nicotinate-nucleotide_%20_adenylyltransferase_%20_activity_%20_(GO:0004515)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 10438687 rs1536262 C T . PASS FUNCOTATION=[KIF1B|hg19|chr1|10438687|10438687|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:10438687C>T|ENST00000377081.1|+|48|||||0.5087281795511222|TCCCGCTTCACGCAGCAAAGG|KIF1B_ENST00000377086.1_THREE_PRIME_UTR|||||||||||||||||||||||||212|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_skin(2)_%7C_upper_aerodigestive_tract(120)|||||||BT007174|||HGNC:16636|kinesin_%20_family_%20_member_%20_1B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CMT2A_%2C__%20_CMT2||KIAA0591_%2C__%20_KLP_%2C__%20_HMSNII||1p36.22|2017-03-24|||AF257176||23095|ENSG00000054523|11389829_%2C__%20_10762626||682_%7C_622|Pleckstrin_%20_homology_%20_domain_%20_containing_%7C_Kinesins|CCDS111_%2C__%20_CCDS112|OTTHUMG00000001817|23095|605995|NM_015074|O60333|ENSG00000054523|uc001aqw.5|KIF1B_HUMAN||A6NFS8_%7C_A6NKQ4_%7C_Q4VXC3_%7C_Q4VXC4_%7C_Q4VXC5_%7C_Q4VXC6_%7C_Q96Q94_%7C_Q9BV80_%7C_Q9P280|O60333|anterograde_%20_axon_%20_cargo_%20_transport_%20_(GO:0008089)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_cytoskeleton-dependent_%20_intracellular_%20_transport_%20_(GO:0030705)_%7C_microtubule-based_%20_movement_%20_(GO:0007018)_%7C_mitochondrion_%20_transport_%20_along_%20_microtubule_%20_(GO:0047497)_%7C_neuromuscular_%20_synaptic_%20_transmission_%20_(GO:0007274)_%7C_neuron-neuron_%20_synaptic_%20_transmission_%20_(GO:0007270)_%7C_vesicle-mediated_%20_transport_%20_(GO:0016192)|cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_cytoplasmic_%20_vesicle_%20_membrane_%20_(GO:0030659)_%7C_kinesin_%20_complex_%20_(GO:0005871)_%7C_microtubule_%20_(GO:0005874)_%7C_microtubule_%20_associated_%20_complex_%20_(GO:0005875)_%7C_mitochondrion_%20_(GO:0005739)_%7C_neuron_%20_projection_%20_(GO:0043005)|ATP_%20_binding_%20_(GO:0005524)_%7C_ATPase_%20_activity_%20_(GO:0016887)_%7C_kinesin_%20_binding_%20_(GO:0019894)_%7C_microtubule_%20_motor_%20_activity_%20_(GO:0003777)_%7C_plus-end-directed_%20_microtubule_%20_motor_%20_activity_%20_(GO:0008574)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 10478954 indel.710 TC T . PASS FUNCOTATION=[PGD|hg19|chr1|10478955|10478955|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:10478955delC|ENST00000270776.8|+|11|1219|c.1182delC|c.(1180-1182)ttcfs|p.F395fs|0.46384039900249374|TGGACGACTTCTTTAAGTCAG|PGD_ENST00000538557.1_FRAME_SHIFT_DEL_p.F382fs/PGD_ENST00000541529.1_FRAME_SHIFT_DEL_p.F373fs/PGD_ENST00000498356.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U30255|NM_002631.2|NP_002622.2|HGNC:8891|phosphogluconate_%20_dehydrogenase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.22|2014-11-18|||BC000368|1.1.1.43|5226|ENSG00000142657||NM_002631|||CCDS113|OTTHUMG00000001905|5226|172200|NM_001304451|P52209|ENSG00000142657|uc001arc.4|6PGD_HUMAN|Dacarbazine(DB00851)_%7C_Furosemide(DB00695)_%7C_Gadopentetate_%20_dimeglumine(DB00789)_%7C_Ketotifen(DB00920)_%7C_Meloxicam(DB00814)_%7C_Methotrexate(DB00563)_%7C_Ritodrine(DB00867)|A8K2Y9_%7C_B4DQJ8_%7C_Q9BWD8|P52209|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_D-gluconate_%20_metabolic_%20_process_%20_(GO:0019521)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_pentose_%20_biosynthetic_%20_process_%20_(GO:0019322)_%7C_pentose-phosphate_%20_shunt_%20_(GO:0006098)_%7C_pentose-phosphate_%20_shunt_%2C__%20_oxidative_%20_branch_%20_(GO:0009051)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleus_%20_(GO:0005634)|NADP_%20_binding_%20_(GO:0050661)_%7C_phosphogluconate_%20_dehydrogenase_%20_(decarboxylating)_%20_activity_%20_(GO:0004616)||||true|false||false|false|||false|false|false|PGD:5226|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|767877628|10478955|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs767877628|] -chr1 10489949 psy_rs147415571 G A . PASS FUNCOTATION=[APITD1|hg19|chr1|10489949|10489949|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:10489949G>A|ENST00000309048.3|+||||||0.4688279301745636|TGGGTTTGATGGTCTCACTTC|APITD1-CORT_ENST00000400900.2_FIVE_PRIME_FLANK/APITD1-CORT_ENST00000470413.2_FIVE_PRIME_FLANK/APITD1_ENST00000602296.1_FIVE_PRIME_FLANK/APITD1_ENST00000602787.1_FIVE_PRIME_FLANK/RP4-736L20.3_ENST00000607572.1_RNA/APITD1_ENST00000462462.1_FIVE_PRIME_FLANK/APITD1-CORT_ENST00000465026.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC029430|NM_199294.2|NP_954988.1||||||||||||||||||||||||||||||CENPS_HUMAN||Q8NFE5_%7C_Q8NFG5|Q8N2Z9|cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_DNA_%20_repair_%20_(GO:0006281)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031398)_%7C_replication_%20_fork_%20_processing_%20_(GO:0031297)_%7C_resolution_%20_of_%20_meiotic_%20_recombination_%20_intermediates_%20_(GO:0000712)|cytosol_%20_(GO:0005829)_%7C_FANCM-MHF_%20_complex_%20_(GO:0071821)_%7C_Fanconi_%20_anaemia_%20_nuclear_%20_complex_%20_(GO:0043240)_%7C_kinetochore_%20_(GO:0000776)|chromatin_%20_binding_%20_(GO:0003682)_%7C_DNA_%20_binding_%20_(GO:0003677)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 10494013 newrs138619348 C T . PASS FUNCOTATION=[APITD1-CORT|hg19|chr1|10494013|10494013|NONSENSE||SNP|C|C|T|g.chr1:10494013C>T|ENST00000400900.2|+|2|582|c.166C>T|c.(166-168)Cga>Tga|p.R56*|0.4688279301745636|GCTGACTTTCCGACAGTGTGG|APITD1_ENST00000309048.3_NONSENSE_p.R56*/APITD1-CORT_ENST00000470413.2_NONSENSE_p.R56*/APITD1_ENST00000602787.1_NONSENSE_p.R56*/APITD1_ENST00000602296.1_NONSENSE_p.R56*/APITD1_ENST00000462462.1_INTRON/APITD1-CORT_ENST00000465026.1_INTRON/RP4-736L20.3_ENST00000607572.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 10502373 exm13281 C T . PASS FUNCOTATION=[APITD1|hg19|chr1|10502373|10502373|NONSENSE||SNP|C|C|T|g.chr1:10502373C>T|ENST00000309048.3|+|5|403|c.328C>T|c.(328-330)Cga>Tga|p.R110*|0.3740648379052369|TAACCTAGAACGAAAAGCACA|APITD1-CORT_ENST00000400900.2_INTRON/APITD1-CORT_ENST00000470413.2_INTRON/APITD1_ENST00000602787.1_INTRON/APITD1_ENST00000602296.1_INTRON/APITD1_ENST00000462462.1_INTRON/APITD1-CORT_ENST00000465026.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC029430|NM_199294.2|NP_954988.1||||||||||||||||||||||||||||||CENPS_HUMAN||Q8NFE5_%7C_Q8NFG5|Q8N2Z9|cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_DNA_%20_repair_%20_(GO:0006281)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031398)_%7C_replication_%20_fork_%20_processing_%20_(GO:0031297)_%7C_resolution_%20_of_%20_meiotic_%20_recombination_%20_intermediates_%20_(GO:0000712)|cytosol_%20_(GO:0005829)_%7C_FANCM-MHF_%20_complex_%20_(GO:0071821)_%7C_Fanconi_%20_anaemia_%20_nuclear_%20_complex_%20_(GO:0043240)_%7C_kinetochore_%20_(GO:0000776)|chromatin_%20_binding_%20_(GO:0003682)_%7C_DNA_%20_binding_%20_(GO:0003677)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 10502710 rs2847337 A G . PASS FUNCOTATION=[APITD1|hg19|chr1|10502710|10502710|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:10502710A>G|ENST00000309048.3|+|5|||||0.32169576059850374|GTGTGTGATCAAATGGTATAT|APITD1-CORT_ENST00000400900.2_INTRON/APITD1-CORT_ENST00000470413.2_INTRON/APITD1_ENST00000602787.1_INTRON/APITD1_ENST00000602296.1_INTRON/APITD1-CORT_ENST00000465026.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC029430|NM_199294.2|NP_954988.1||||||||||||||||||||||||||||||CENPS_HUMAN||Q8NFE5_%7C_Q8NFG5|Q8N2Z9|cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_DNA_%20_repair_%20_(GO:0006281)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031398)_%7C_replication_%20_fork_%20_processing_%20_(GO:0031297)_%7C_resolution_%20_of_%20_meiotic_%20_recombination_%20_intermediates_%20_(GO:0000712)|cytosol_%20_(GO:0005829)_%7C_FANCM-MHF_%20_complex_%20_(GO:0071821)_%7C_Fanconi_%20_anaemia_%20_nuclear_%20_complex_%20_(GO:0043240)_%7C_kinetochore_%20_(GO:0000776)|chromatin_%20_binding_%20_(GO:0003682)_%7C_DNA_%20_binding_%20_(GO:0003677)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 10596294 variant.728 C T . PASS FUNCOTATION=[PEX14|hg19|chr1|10596294|10596294|NONSENSE||SNP|C|C|T|g.chr1:10596294C>T|ENST00000356607.4|+|3|189|c.109C>T|c.(109-111)Cag>Tag|p.Q37*|0.48877805486284287|GAAGTTTCTACAGAATTCCCG|PEX14_ENST00000538836.1_INTRON/PEX14_ENST00000492696.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR542083|NM_004565.2|NP_004556.1|HGNC:8856|peroxisomal_%20_biogenesis_%20_factor_%20_14|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.22|2014-11-18|||AF045186||5195|ENSG00000142655|9653144||957|Peroxins|CCDS30582|OTTHUMG00000001908|5195|601791|NM_004565|O75381|ENSG00000142655|uc001arn.5|PEX14_HUMAN||B2R7N1_%7C_B3KML6_%7C_B7Z1N2_%7C_Q8WX51|O75381|microtubule_%20_anchoring_%20_(GO:0034453)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_homotetramerization_%20_(GO:1901094)_%7C_negative_%20_regulation_%20_of_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0043433)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_peroxisome_%20_organization_%20_(GO:0007031)_%7C_peroxisome_%20_transport_%20_along_%20_microtubule_%20_(GO:0036250)_%7C_protein_%20_complex_%20_assembly_%20_(GO:0006461)_%7C_protein_%20_homooligomerization_%20_(GO:0051260)_%7C_protein_%20_import_%20_into_%20_peroxisome_%20_matrix_%20_(GO:0016558)_%7C_protein_%20_import_%20_into_%20_peroxisome_%20_matrix_%2C__%20_substrate_%20_release_%20_(GO:0044721)_%7C_protein_%20_import_%20_into_%20_peroxisome_%20_matrix_%2C__%20_translocation_%20_(GO:0016561)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intracellular_%20_(GO:0005622)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_membrane_%20_(GO:0016020)_%7C_nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)_%7C_peroxisomal_%20_membrane_%20_(GO:0005778)_%7C_peroxisome_%20_(GO:0005777)_%7C_protein_%20_complex_%20_(GO:0043234)|beta-tubulin_%20_binding_%20_(GO:0048487)_%7C_microtubule_%20_binding_%20_(GO:0008017)_%7C_protein_%20_N-terminus_%20_binding_%20_(GO:0047485)_%7C_receptor_%20_binding_%20_(GO:0005102)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 11015136 var_1_11015136 G A . PASS FUNCOTATION=[C1orf127|hg19|chr1|11015136|11015136|NONSENSE||SNP|G|G|A|g.chr1:11015136G>A|ENST00000377004.4|-|9|886|c.886C>T|c.(886-888)Cga>Tga|p.R296*|0.543640897755611|TGGTGGACTCGGAGGAATCTG|C1orf127_ENST00000377008.4_NONSENSE_p.R129*|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC143794|NM_001170754.1|NP_001164225.1|HGNC:26730|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_127|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ37118||1p36.22|2016-09-30|||AK094437||148345|ENSG00000175262|14702039|NM_173507|||CCDS53267|OTTHUMG00000002032|148345||NM_001170754|Q8N9H9|ENSG00000175262|uc010oao.2|CA127_HUMAN||A0AVG8_%7C_A6NKM7_%7C_Q5VXJ2|Q8N9H9|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 11087334 newrs137990115 C A . PASS FUNCOTATION=[MASP2|hg19|chr1|11087334|11087334|NONSENSE||SNP|C|C|A|g.chr1:11087334C>A|ENST00000400897.3|-|11|1685|c.1669G>T|c.(1669-1671)Gaa>Taa|p.E557*|0.4089775561097257|GATTCAGCTTCTTTTCTTGGC|RP4-635E18.8_ENST00000607145.1_FIVE_PRIME_FLANK|GBM(35_%3B_611_%20_746_%20_20780_%20_22741_%20_36496)||||||||||||||||||||||||137|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_stomach(47)|||||||Y18287|NM_006610.3|NP_006601.2|HGNC:6902|mannan_%20_binding_%20_lectin_%20_serine_%20_peptidase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MASP1P1|"mannan-binding_%20_lectin_%20_serine_%20_protease_%20_2"_%2C__%20_"mannan-binding_%20_lectin_%20_serine_%20_peptidase_%20_1_%20_pseudogene_%20_1"_%2C__%20_"mannan-binding_%20_lectin_%20_serine_%20_protease_%20_1_%20_pseudogene_%20_1"|||1p36.22|2017-03-24||2016-03-08|X98400||10747|ENSG00000009724|9087411_%2C__%20_9777418|NM_006610|1179|Sushi_%20_domain_%20_containing|CCDS123_%2C__%20_CCDS124|OTTHUMG00000002121|10747|605102|NM_006610|O00187|ENSG00000009724|uc001aru.4|MASP2_HUMAN||A8K458_%7C_A8MWJ2_%7C_O75754_%7C_Q5TEQ5_%7C_Q5TER0_%7C_Q96QG4_%7C_Q9BZH0_%7C_Q9H498_%7C_Q9H499_%7C_Q9UBP3_%7C_Q9UC48_%7C_Q9ULC7_%7C_Q9UMV3_%7C_Q9Y270|O00187|complement_%20_activation_%20_(GO:0006956)_%7C_complement_%20_activation_%2C__%20_classical_%20_pathway_%20_(GO:0006958)_%7C_complement_%20_activation_%2C__%20_lectin_%20_pathway_%20_(GO:0001867)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_calcium-dependent_%20_protein_%20_binding_%20_(GO:0048306)_%7C_complement_%20_component_%20_C4b_%20_binding_%20_(GO:0001855)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 11097774 variant.758 G T . PASS FUNCOTATION=[MASP2|hg19|chr1|11097774|11097774|NONSENSE||SNP|G|G|T|g.chr1:11097774G>T|ENST00000400897.3|-|7|1000|c.984C>A|c.(982-984)tgC>tgA|p.C328*|0.4089775561097257|AGCCAGTCTCGCAAAAGATGG||GBM(35_%3B_611_%20_746_%20_20780_%20_22741_%20_36496)||||||||||||||||||||||||137|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_stomach(47)|||||||Y18287|NM_006610.3|NP_006601.2|HGNC:6902|mannan_%20_binding_%20_lectin_%20_serine_%20_peptidase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MASP1P1|"mannan-binding_%20_lectin_%20_serine_%20_protease_%20_2"_%2C__%20_"mannan-binding_%20_lectin_%20_serine_%20_peptidase_%20_1_%20_pseudogene_%20_1"_%2C__%20_"mannan-binding_%20_lectin_%20_serine_%20_protease_%20_1_%20_pseudogene_%20_1"|||1p36.22|2017-03-24||2016-03-08|X98400||10747|ENSG00000009724|9087411_%2C__%20_9777418|NM_006610|1179|Sushi_%20_domain_%20_containing|CCDS123_%2C__%20_CCDS124|OTTHUMG00000002121|10747|605102|NM_006610|O00187|ENSG00000009724|uc001aru.4|MASP2_HUMAN||A8K458_%7C_A8MWJ2_%7C_O75754_%7C_Q5TEQ5_%7C_Q5TER0_%7C_Q96QG4_%7C_Q9BZH0_%7C_Q9H498_%7C_Q9H499_%7C_Q9UBP3_%7C_Q9UC48_%7C_Q9ULC7_%7C_Q9UMV3_%7C_Q9Y270|O00187|complement_%20_activation_%20_(GO:0006956)_%7C_complement_%20_activation_%2C__%20_classical_%20_pathway_%20_(GO:0006958)_%7C_complement_%20_activation_%2C__%20_lectin_%20_pathway_%20_(GO:0001867)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_calcium-dependent_%20_protein_%20_binding_%20_(GO:0048306)_%7C_complement_%20_component_%20_C4b_%20_binding_%20_(GO:0001855)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 11106783 exm14040 G T . PASS FUNCOTATION=[MASP2|hg19|chr1|11106783|11106783|NONSENSE||SNP|G|G|T|g.chr1:11106783G>T|ENST00000400897.3|-|3|258|c.242C>A|c.(241-243)tCg>tAg|p.S81*|0.6433915211970075|CTTGGCCCCCGAGCTCAGCTG|MASP2_ENST00000400898.3_NONSENSE_p.S81*|GBM(35_%3B_611_%20_746_%20_20780_%20_22741_%20_36496)||||||||||||||||||||||||137|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_stomach(47)|||||||Y18287|NM_006610.3|NP_006601.2|HGNC:6902|mannan_%20_binding_%20_lectin_%20_serine_%20_peptidase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MASP1P1|"mannan-binding_%20_lectin_%20_serine_%20_protease_%20_2"_%2C__%20_"mannan-binding_%20_lectin_%20_serine_%20_peptidase_%20_1_%20_pseudogene_%20_1"_%2C__%20_"mannan-binding_%20_lectin_%20_serine_%20_protease_%20_1_%20_pseudogene_%20_1"|||1p36.22|2017-03-24||2016-03-08|X98400||10747|ENSG00000009724|9087411_%2C__%20_9777418|NM_006610|1179|Sushi_%20_domain_%20_containing|CCDS123_%2C__%20_CCDS124|OTTHUMG00000002121|10747|605102|NM_006610|O00187|ENSG00000009724|uc001aru.4|MASP2_HUMAN||A8K458_%7C_A8MWJ2_%7C_O75754_%7C_Q5TEQ5_%7C_Q5TER0_%7C_Q96QG4_%7C_Q9BZH0_%7C_Q9H498_%7C_Q9H499_%7C_Q9UBP3_%7C_Q9UC48_%7C_Q9ULC7_%7C_Q9UMV3_%7C_Q9Y270|O00187|complement_%20_activation_%20_(GO:0006956)_%7C_complement_%20_activation_%2C__%20_classical_%20_pathway_%20_(GO:0006958)_%7C_complement_%20_activation_%2C__%20_lectin_%20_pathway_%20_(GO:0001867)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_calcium-dependent_%20_protein_%20_binding_%20_(GO:0048306)_%7C_complement_%20_component_%20_C4b_%20_binding_%20_(GO:0001855)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 11128123 exm1694875 T A . PASS FUNCOTATION=[EXOSC10|hg19|chr1|11128123|11128123|NONSENSE||SNP|T|T|A|g.chr1:11128123T>A|ENST00000376936.4|-|24|2619|c.2569A>T|c.(2569-2571)Aaa>Taa|p.K857*|0.5311720698254364|TGTTTAATTTTTTTGGCTGCA|EXOSC10_ENST00000304457.7_NONSENSE_p.K832*/EXOSC10_ENST00000544779.1_THREE_PRIME_UTR/RP4-635E18.7_ENST00000452378.1_FIVE_PRIME_FLANK|Colon(179_%3B_105_%20_1987_%20_14326_%20_27364_%20_29542)||||||||||||||||||||||||115|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_upper_aerodigestive_tract(1)|||||||X66113|NM_001001998.1|NP_001001998.1|HGNC:9138|exosome_%20_component_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PMSCL2|"polymyositis/scleroderma_%20_autoantigen_%20_2_%2C__%20_100kDa"|PM-Scl_%2C__%20_PM/Scl-100_%2C__%20_Rrp6p_%2C__%20_RRP6_%2C__%20_p2_%2C__%20_p3_%2C__%20_p4|"polymyositis/scleroderma_%20_autoantigen_%20_2_%20_(100kD)"|1p36.22|2014-11-19|2004-06-18|2004-06-16|BC073788||5394|ENSG00000171824|1383382_%2C__%20_1644924|NM_001001998|817|Exosome_%20_complex|CCDS126_%2C__%20_CCDS30584|OTTHUMG00000002123|5394|605960|NM_001001998|Q01780|ENSG00000171824|uc001asb.4|EXOSX_HUMAN||B1AKQ0_%7C_B1AKQ1_%7C_Q15158|Q01780|CUT_%20_catabolic_%20_process_%20_(GO:0071034)_%7C_dosage_%20_compensation_%20_by_%20_inactivation_%20_of_%20_X_%20_chromosome_%20_(GO:0009048)_%7C_histone_%20_mRNA_%20_catabolic_%20_process_%20_(GO:0071044)_%7C_maturation_%20_of_%20_5.8S_%20_rRNA_%20_(GO:0000460)_%7C_nuclear_%20_mRNA_%20_surveillance_%20_(GO:0071028)_%7C_nuclear_%20_polyadenylation-dependent_%20_rRNA_%20_catabolic_%20_process_%20_(GO:0071035)_%7C_nuclear_%20_retention_%20_of_%20_unspliced_%20_pre-mRNA_%20_at_%20_the_%20_site_%20_of_%20_transcription_%20_(GO:0071048)_%7C_nuclear-transcribed_%20_mRNA_%20_catabolic_%20_process_%20_(GO:0000956)_%7C_nuclear-transcribed_%20_mRNA_%20_catabolic_%20_process_%2C__%20_nonsense-mediated_%20_decay_%20_(GO:0000184)_%7C_RNA_%20_phosphodiester_%20_bond_%20_hydrolysis_%2C__%20_exonucleolytic_%20_(GO:0090503)|cytoplasm_%20_(GO:0005737)_%7C_exosome_%20_(RNase_%20_complex)_%20_(GO:0000178)_%7C_membrane_%20_(GO:0016020)_%7C_nuclear_%20_exosome_%20_(RNase_%20_complex)_%20_(GO:0000176)_%7C_nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)_%7C_transcriptionally_%20_active_%20_chromatin_%20_(GO:0035327)|3'-5'_%20_exonuclease_%20_activity_%20_(GO:0008408)_%7C_exoribonuclease_%20_activity_%20_(GO:0004532)_%7C_nucleotide_%20_binding_%20_(GO:0000166)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 11147637 var_1_11147637 G T . PASS FUNCOTATION=[EXOSC10|hg19|chr1|11147637|11147637|NONSENSE||SNP|G|G|T|g.chr1:11147637G>T|ENST00000376936.4|-|9|1007|c.957C>A|c.(955-957)taC>taA|p.Y319*|0.38403990024937656|GGAAGCTCCTGTAAGAGTGGT|EXOSC10_ENST00000304457.7_NONSENSE_p.Y319*/EXOSC10_ENST00000544779.1_NONSENSE_p.Y319*/EXOSC10_ENST00000485606.1_FIVE_PRIME_FLANK|Colon(179_%3B_105_%20_1987_%20_14326_%20_27364_%20_29542)||||||||||||||||||||||||115|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_upper_aerodigestive_tract(1)|||||||X66113|NM_001001998.1|NP_001001998.1|HGNC:9138|exosome_%20_component_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PMSCL2|"polymyositis/scleroderma_%20_autoantigen_%20_2_%2C__%20_100kDa"|PM-Scl_%2C__%20_PM/Scl-100_%2C__%20_Rrp6p_%2C__%20_RRP6_%2C__%20_p2_%2C__%20_p3_%2C__%20_p4|"polymyositis/scleroderma_%20_autoantigen_%20_2_%20_(100kD)"|1p36.22|2014-11-19|2004-06-18|2004-06-16|BC073788||5394|ENSG00000171824|1383382_%2C__%20_1644924|NM_001001998|817|Exosome_%20_complex|CCDS126_%2C__%20_CCDS30584|OTTHUMG00000002123|5394|605960|NM_001001998|Q01780|ENSG00000171824|uc001asb.4|EXOSX_HUMAN||B1AKQ0_%7C_B1AKQ1_%7C_Q15158|Q01780|CUT_%20_catabolic_%20_process_%20_(GO:0071034)_%7C_dosage_%20_compensation_%20_by_%20_inactivation_%20_of_%20_X_%20_chromosome_%20_(GO:0009048)_%7C_histone_%20_mRNA_%20_catabolic_%20_process_%20_(GO:0071044)_%7C_maturation_%20_of_%20_5.8S_%20_rRNA_%20_(GO:0000460)_%7C_nuclear_%20_mRNA_%20_surveillance_%20_(GO:0071028)_%7C_nuclear_%20_polyadenylation-dependent_%20_rRNA_%20_catabolic_%20_process_%20_(GO:0071035)_%7C_nuclear_%20_retention_%20_of_%20_unspliced_%20_pre-mRNA_%20_at_%20_the_%20_site_%20_of_%20_transcription_%20_(GO:0071048)_%7C_nuclear-transcribed_%20_mRNA_%20_catabolic_%20_process_%20_(GO:0000956)_%7C_nuclear-transcribed_%20_mRNA_%20_catabolic_%20_process_%2C__%20_nonsense-mediated_%20_decay_%20_(GO:0000184)_%7C_RNA_%20_phosphodiester_%20_bond_%20_hydrolysis_%2C__%20_exonucleolytic_%20_(GO:0090503)|cytoplasm_%20_(GO:0005737)_%7C_exosome_%20_(RNase_%20_complex)_%20_(GO:0000178)_%7C_membrane_%20_(GO:0016020)_%7C_nuclear_%20_exosome_%20_(RNase_%20_complex)_%20_(GO:0000176)_%7C_nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)_%7C_transcriptionally_%20_active_%20_chromatin_%20_(GO:0035327)|3'-5'_%20_exonuclease_%20_activity_%20_(GO:0008408)_%7C_exoribonuclease_%20_activity_%20_(GO:0004532)_%7C_nucleotide_%20_binding_%20_(GO:0000166)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 11253688 exm14418 C T . PASS FUNCOTATION=[ANGPTL7|hg19|chr1|11253688|11253688|NONSENSE||SNP|C|C|T|g.chr1:11253688C>T|ENST00000376819.3|+|3|768|c.529C>T|c.(529-531)Cga>Tga|p.R177*|0.5960099750623441|CATCCAGAGACGAAAAAGTGG|MTOR_ENST00000361445.4_INTRON/ANGPTL7_ENST00000476934.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Y16132|NM_021146.3|NP_066969.1|HGNC:24078|angiopoietin_%20_like_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"angiopoietin-like_%20_7"|CDT6_%2C__%20_AngX||1p36.22|2016-10-05||2015-11-11|Y16132||10218|ENSG00000171819|9727400_%2C__%20_11682471|NM_021146|554_%7C_905|Fibrinogen_%20_C_%20_domain_%20_containing_%7C_Angiopoietin_%20_like|CCDS128|OTTHUMG00000002002|10218||NM_021146|O43827|ENSG00000171819|uc001ase.5|ANGL7_HUMAN||B2R9B2_%7C_F1T0A6_%7C_Q4ZGK4|O43827|response_%20_to_%20_oxidative_%20_stress_%20_(GO:0006979)|extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 11253722 exm14420 G A . PASS FUNCOTATION=[ANGPTL7|hg19|chr1|11253722|11253722|NONSENSE||SNP|G|G|A|g.chr1:11253722G>A|ENST00000376819.3|+|3|802|c.563G>A|c.(562-564)tGg>tAg|p.W188*|0.5860349127182045|TACCGGGACTGGAAGCAGTAC|MTOR_ENST00000361445.4_INTRON/ANGPTL7_ENST00000476934.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Y16132|NM_021146.3|NP_066969.1|HGNC:24078|angiopoietin_%20_like_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"angiopoietin-like_%20_7"|CDT6_%2C__%20_AngX||1p36.22|2016-10-05||2015-11-11|Y16132||10218|ENSG00000171819|9727400_%2C__%20_11682471|NM_021146|554_%7C_905|Fibrinogen_%20_C_%20_domain_%20_containing_%7C_Angiopoietin_%20_like|CCDS128|OTTHUMG00000002002|10218||NM_021146|O43827|ENSG00000171819|uc001ase.5|ANGL7_HUMAN||B2R9B2_%7C_F1T0A6_%7C_Q4ZGK4|O43827|response_%20_to_%20_oxidative_%20_stress_%20_(GO:0006979)|extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 11346336 psy_rs11580061 A G . PASS FUNCOTATION=[UBIAD1|hg19|chr1|11346336|11346336|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:11346336A>G|ENST00000376810.5|+|2|||||0.38902743142144636|TGTGTTCTTAAAGATAATATG|UBIAD1_ENST00000376804.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471130|NM_013319.2|NP_037451.1|HGNC:30791|UbiA_%20_prenyltransferase_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SCCD|"Schnyder_%20_crystalline_%20_corneal_%20_dystrophy"|TERE1|"transitional_%20_epithelia_%20_response_%20_protein"|1p36.22|2014-11-19|||||29914|ENSG00000120942|20953171_%2C__%20_12497587_%2C__%20_11314041_%2C__%20_17668063_%2C__%20_17962451_%2C__%20_8894705|NM_013319|||CCDS129_%2C__%20_CCDS81260|OTTHUMG00000002075|29914|611632|NM_013319|Q9Y5Z9|ENSG00000120942|uc001asg.4|UBIA1_HUMAN||B3KQG3_%7C_Q53GX3_%7C_Q5THD4|Q9Y5Z9|menaquinone_%20_biosynthetic_%20_process_%20_(GO:0009234)_%7C_ubiquinone_%20_biosynthetic_%20_process_%20_(GO:0006744)_%7C_vitamin_%20_K_%20_biosynthetic_%20_process_%20_(GO:0042371)|cytoplasm_%20_(GO:0005737)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_Golgi_%20_membrane_%20_(GO:0030173)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|antioxidant_%20_activity_%20_(GO:0016209)_%7C_prenyltransferase_%20_activity_%20_(GO:0004659)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 11347092 rs3765906 T C . PASS FUNCOTATION=[UBIAD1|hg19|chr1|11347092|11347092|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:11347092T>C|ENST00000376810.5|+|2|||||0.5261845386533666|TCCCCACACCTACCCTCCACC|UBIAD1_ENST00000376804.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471130|NM_013319.2|NP_037451.1|HGNC:30791|UbiA_%20_prenyltransferase_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SCCD|"Schnyder_%20_crystalline_%20_corneal_%20_dystrophy"|TERE1|"transitional_%20_epithelia_%20_response_%20_protein"|1p36.22|2014-11-19|||||29914|ENSG00000120942|20953171_%2C__%20_12497587_%2C__%20_11314041_%2C__%20_17668063_%2C__%20_17962451_%2C__%20_8894705|NM_013319|||CCDS129_%2C__%20_CCDS81260|OTTHUMG00000002075|29914|611632|NM_013319|Q9Y5Z9|ENSG00000120942|uc001asg.4|UBIA1_HUMAN||B3KQG3_%7C_Q53GX3_%7C_Q5THD4|Q9Y5Z9|menaquinone_%20_biosynthetic_%20_process_%20_(GO:0009234)_%7C_ubiquinone_%20_biosynthetic_%20_process_%20_(GO:0006744)_%7C_vitamin_%20_K_%20_biosynthetic_%20_process_%20_(GO:0042371)|cytoplasm_%20_(GO:0005737)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_Golgi_%20_membrane_%20_(GO:0030173)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|antioxidant_%20_activity_%20_(GO:0016209)_%7C_prenyltransferase_%20_activity_%20_(GO:0004659)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 11721854 rs2294641 C T . PASS FUNCOTATION=[FBXO44|hg19|chr1|11721854|11721854|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:11721854C>T|ENST00000251547.5|+|6|||||0.6084788029925187|CTCCCAGTCTCTCGCTCTGCC|FBXO44_ENST00000251546.4_THREE_PRIME_UTR/FBXO44_ENST00000376762.4_THREE_PRIME_UTR/FBXO44_ENST00000376770.1_THREE_PRIME_UTR/FBXO6_ENST00000376753.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR749368|NM_033182.5|NP_149438.2|HGNC:24847|F-box_%20_protein_%20_44|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FBX30_%2C__%20_FBG3_%2C__%20_MGC14140_%2C__%20_Fbxo6a_%2C__%20_Fbx44||1p36.22|2016-10-05|||AY040878||93611|ENSG00000132879|12383498|NM_183412|560|F-boxes_%20_other|CCDS131_%2C__%20_CCDS132_%2C__%20_CCDS81261|OTTHUMG00000002071|93611|609111|NM_001014765|Q9H4M3|ENSG00000132879|uc001asl.3|FBX44_HUMAN||B3KNZ2_%7C_B7Z743_%7C_Q5TGX2_%7C_Q5TGX4_%7C_Q5TGX5_%7C_Q68DJ9_%7C_Q8WWY2|Q9H4M3||SCF_%20_ubiquitin_%20_ligase_%20_complex_%20_(GO:0019005)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 11783484 rs4846029 T G . PASS FUNCOTATION=[DRAXIN|hg19|chr1|11783484|11783484|THREE_PRIME_UTR||SNP|T|T|G|g.chr1:11783484T>G|ENST00000294485.5|+|7|||||0.46633416458852867|CCCTTCCATCTGTAGCAGTGT||||||||||||||||||||||||||||||||||BC111064|NM_198545.3|NP_940947.3|HGNC:25054|dorsal_%20_inhibitory_%20_axon_%20_guidance_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf187|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_187"|FLJ34999_%2C__%20_Draxin_%2C__%20_Neucrin|"dorsal_%20_repulsive_%20_axon_%20_guidance_%20_protein"_%2C__%20_"neural_%20_tissue-specific_%20_cysteine-rich_%20_protein"|1p36.22|2014-11-19|2012-08-14|2012-08-14|AY358750||374946|ENSG00000162490|19150847|NM_198545|||CCDS135|OTTHUMG00000002227|374946|612682|NM_198545|Q8NBI3|ENSG00000162490|uc001ass.4|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 11810151 variant.827 C T . PASS FUNCOTATION=[AGTRAP|hg19|chr1|11810151|11810151|NONSENSE||SNP|C|C|T|g.chr1:11810151C>T|ENST00000314340.5|+|5|436|c.382C>T|c.(382-384)Cag>Tag|p.Q128*|0.5885286783042394|TGGGTCTTCTCAGGACCGTAG|AGTRAP_ENST00000376629.4_NONSENSE_p.Q121*/AGTRAP_ENST00000376637.3_MISSENSE_p.S109L/AGTRAP_ENST00000452018.2_MISSENSE_p.S153L/AGTRAP_ENST00000510878.1_SILENT_p.L92L/AGTRAP_ENST00000376627.2_THREE_PRIME_UTR/AGTRAP_ENST00000400895.2_THREE_PRIME_UTR/AGTRAP_ENST00000491346.1_INTRON|||||||||||||||||||||||AGTRAP{ENST00000314340}:r.1_528_BRAF{ENST00000288602}:r.1201_2480(1)_%7C_AGTRAP{ENST00000314340}:r.1_534_BRAF{ENST00000288602}:r.1201_2480(1)||161|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(61)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(1)|||||||CH471130|NM_020350.4|NP_065083.3|HGNC:13539|angiotensin_%20_II_%20_receptor_%20_associated_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ATRAP||1p36.22|2016-01-12||2016-01-12|AF165187||57085|ENSG00000177674|11733189|NM_020350|||CCDS136_%2C__%20_CCDS30585_%2C__%20_CCDS30586_%2C__%20_CCDS41248_%2C__%20_CCDS44056|OTTHUMG00000002230|57085|608729|NM_001040194|Q6RW13|ENSG00000177674|uc001asv.4|ATRAP_HUMAN||A8MVQ5_%7C_Q5SNV4_%7C_Q5SNV5_%7C_Q96AC0_%7C_Q96PL4_%7C_Q9NRW9|Q6RW13|regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)|cell_%20_cortex_%20_(GO:0005938)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|angiotensin_%20_type_%20_II_%20_receptor_%20_activity_%20_(GO:0004945)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 11810505 rs8617 C T . PASS FUNCOTATION=[AGTRAP|hg19|chr1|11810505|11810505|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:11810505C>T|ENST00000314340.5|+|5|||||0.6184538653366584|CTCTCTTTACCTCCTACCCCA|AGTRAP_ENST00000376629.4_THREE_PRIME_UTR/AGTRAP_ENST00000376637.3_THREE_PRIME_UTR/AGTRAP_ENST00000376627.2_THREE_PRIME_UTR/AGTRAP_ENST00000510878.1_THREE_PRIME_UTR/AGTRAP_ENST00000491346.1_INTRON|||||||||||||||||||||||AGTRAP{ENST00000314340}:r.1_528_BRAF{ENST00000288602}:r.1201_2480(1)_%7C_AGTRAP{ENST00000314340}:r.1_534_BRAF{ENST00000288602}:r.1201_2480(1)||161|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(61)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(1)|||||||CH471130|NM_020350.4|NP_065083.3|HGNC:13539|angiotensin_%20_II_%20_receptor_%20_associated_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ATRAP||1p36.22|2016-01-12||2016-01-12|AF165187||57085|ENSG00000177674|11733189|NM_020350|||CCDS136_%2C__%20_CCDS30585_%2C__%20_CCDS30586_%2C__%20_CCDS41248_%2C__%20_CCDS44056|OTTHUMG00000002230|57085|608729|NM_001040194|Q6RW13|ENSG00000177674|uc001asv.4|ATRAP_HUMAN||A8MVQ5_%7C_Q5SNV4_%7C_Q5SNV5_%7C_Q96AC0_%7C_Q96PL4_%7C_Q9NRW9|Q6RW13|regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)|cell_%20_cortex_%20_(GO:0005938)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|angiotensin_%20_type_%20_II_%20_receptor_%20_activity_%20_(GO:0004945)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 11810674 rs1128059 G A . PASS FUNCOTATION=[AGTRAP|hg19|chr1|11810674|11810674|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:11810674G>A|ENST00000314340.5|+|5|||||0.5910224438902744|GAGCAGTCTGGCATGGGAGTG|AGTRAP_ENST00000376629.4_THREE_PRIME_UTR/AGTRAP_ENST00000376637.3_THREE_PRIME_UTR/AGTRAP_ENST00000510878.1_THREE_PRIME_UTR|||||||||||||||||||||||AGTRAP{ENST00000314340}:r.1_528_BRAF{ENST00000288602}:r.1201_2480(1)_%7C_AGTRAP{ENST00000314340}:r.1_534_BRAF{ENST00000288602}:r.1201_2480(1)||161|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(61)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(1)|||||||CH471130|NM_020350.4|NP_065083.3|HGNC:13539|angiotensin_%20_II_%20_receptor_%20_associated_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ATRAP||1p36.22|2016-01-12||2016-01-12|AF165187||57085|ENSG00000177674|11733189|NM_020350|||CCDS136_%2C__%20_CCDS30585_%2C__%20_CCDS30586_%2C__%20_CCDS41248_%2C__%20_CCDS44056|OTTHUMG00000002230|57085|608729|NM_001040194|Q6RW13|ENSG00000177674|uc001asv.4|ATRAP_HUMAN||A8MVQ5_%7C_Q5SNV4_%7C_Q5SNV5_%7C_Q96AC0_%7C_Q96PL4_%7C_Q9NRW9|Q6RW13|regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)|cell_%20_cortex_%20_(GO:0005938)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|angiotensin_%20_type_%20_II_%20_receptor_%20_activity_%20_(GO:0004945)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 11846252 rs4846048 G A . PASS FUNCOTATION=[MTHFR|hg19|chr1|11846252|11846252|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:11846252G>A|ENST00000376592.1|-|11|||||0.428927680798005|ACACCAACAAGTGGTGATAAG|C1orf167_ENST00000433342.1_INTRON/MTHFR_ENST00000376583.3_THREE_PRIME_UTR|||||||||||||||||||||||||190|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(61)_%7C_large_intestine(22)_%7C_pancreas(22)_%7C_skin(31)_%7C_soft_tissue(41)|||||||U09806|||HGNC:7436|methylenetetrahydrofolate_%20_reductase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"5_%2C_10-methylenetetrahydrofolate_%20_reductase_%20_(NADPH)"_%2C__%20_"methylenetetrahydrofolate_%20_reductase_%20_(NAD(P)H)"|||1p36.22|2017-03-24||2016-08-10|BC053509|1.5.1.20|4524|ENSG00000177000|7920641|NM_005957|||CCDS137_%2C__%20_CCDS81262|OTTHUMG00000002277|4524|607093|NM_005957|P42898|ENSG00000177000|uc001atc.3|MTHR_HUMAN|Benazepril(DB00542)_%7C_Cyanocobalamin(DB00115)_%7C_Fluorouracil(DB00544)_%7C_Folic_%20_Acid(DB00158)_%7C_L-Methionine(DB00134)_%7C_Menadione(DB00170)_%7C_Methotrexate(DB00563)_%7C_Riboflavin(DB00140)_%7C_Tetrahydrofolic_%20_acid(DB00116)|B2R7A6_%7C_Q5SNW6_%7C_Q5SNW9_%7C_Q7Z6M6_%7C_Q8IU73_%7C_Q9UQR2|P42898|blood_%20_circulation_%20_(GO:0008015)_%7C_cellular_%20_amino_%20_acid_%20_metabolic_%20_process_%20_(GO:0006520)_%7C_folic_%20_acid_%20_metabolic_%20_process_%20_(GO:0046655)_%7C_homocysteine_%20_metabolic_%20_process_%20_(GO:0050667)_%7C_methionine_%20_biosynthetic_%20_process_%20_(GO:0009086)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_response_%20_to_%20_folic_%20_acid_%20_(GO:0051593)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_response_%20_to_%20_interleukin-1_%20_(GO:0070555)_%7C_response_%20_to_%20_vitamin_%20_B2_%20_(GO:0033274)_%7C_S-adenosylmethionine_%20_metabolic_%20_process_%20_(GO:0046500)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_tetrahydrofolate_%20_interconversion_%20_(GO:0035999)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)_%7C_neuron_%20_projection_%20_(GO:0043005)|flavin_%20_adenine_%20_dinucleotide_%20_binding_%20_(GO:0050660)_%7C_methylenetetrahydrofolate_%20_reductase_%20_(NAD(P)H)_%20_activity_%20_(GO:0004489)_%7C_modified_%20_amino_%20_acid_%20_binding_%20_(GO:0072341)_%7C_NADP_%20_binding_%20_(GO:0050661)||||true|false|0.2935_%2C_0.7065|false|false|1||false|true|true|MTHFR:4524_%7C_C1orf167:284498|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|true|false|false|4846048|11846252|false|false|0|true|0|false|0.359949_%2C_0.640051|false|true|false|SNV|true|0x0501288c000517053f000100|1|false|111|rs4846048|] -chr1 11855351 newrs147750177 C A . PASS FUNCOTATION=[MTHFR|hg19|chr1|11855351|11855351|NONSENSE||SNP|C|C|A|g.chr1:11855351C>A|ENST00000376585.1|-|7|2010|c.958G>T|c.(958-960)Gag>Tag|p.E320*|0.5910224438902744|TCCTTGATCTCCTGTGGCACC|MTHFR_ENST00000376592.1_NONSENSE_p.E279*/MTHFR_ENST00000376590.3_NONSENSE_p.E279*/MTHFR_ENST00000376583.3_NONSENSE_p.E320*|||||||||||||||||||||||||190|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(61)_%7C_large_intestine(22)_%7C_pancreas(22)_%7C_skin(31)_%7C_soft_tissue(41)|||||||U09806|||HGNC:7436|methylenetetrahydrofolate_%20_reductase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"5_%2C_10-methylenetetrahydrofolate_%20_reductase_%20_(NADPH)"_%2C__%20_"methylenetetrahydrofolate_%20_reductase_%20_(NAD(P)H)"|||1p36.22|2017-03-24||2016-08-10|BC053509|1.5.1.20|4524|ENSG00000177000|7920641|NM_005957|||CCDS137_%2C__%20_CCDS81262|OTTHUMG00000002277|4524|607093|NM_005957|P42898|ENSG00000177000|uc001atc.3|MTHR_HUMAN|Benazepril(DB00542)_%7C_Cyanocobalamin(DB00115)_%7C_Fluorouracil(DB00544)_%7C_Folic_%20_Acid(DB00158)_%7C_L-Methionine(DB00134)_%7C_Menadione(DB00170)_%7C_Methotrexate(DB00563)_%7C_Riboflavin(DB00140)_%7C_Tetrahydrofolic_%20_acid(DB00116)|B2R7A6_%7C_Q5SNW6_%7C_Q5SNW9_%7C_Q7Z6M6_%7C_Q8IU73_%7C_Q9UQR2|P42898|blood_%20_circulation_%20_(GO:0008015)_%7C_cellular_%20_amino_%20_acid_%20_metabolic_%20_process_%20_(GO:0006520)_%7C_folic_%20_acid_%20_metabolic_%20_process_%20_(GO:0046655)_%7C_homocysteine_%20_metabolic_%20_process_%20_(GO:0050667)_%7C_methionine_%20_biosynthetic_%20_process_%20_(GO:0009086)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_response_%20_to_%20_folic_%20_acid_%20_(GO:0051593)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_response_%20_to_%20_interleukin-1_%20_(GO:0070555)_%7C_response_%20_to_%20_vitamin_%20_B2_%20_(GO:0033274)_%7C_S-adenosylmethionine_%20_metabolic_%20_process_%20_(GO:0046500)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_tetrahydrofolate_%20_interconversion_%20_(GO:0035999)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)_%7C_neuron_%20_projection_%20_(GO:0043005)|flavin_%20_adenine_%20_dinucleotide_%20_binding_%20_(GO:0050660)_%7C_methylenetetrahydrofolate_%20_reductase_%20_(NAD(P)H)_%20_activity_%20_(GO:0004489)_%7C_modified_%20_amino_%20_acid_%20_binding_%20_(GO:0072341)_%7C_NADP_%20_binding_%20_(GO:0050661)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 11894624 variant.859 G A . PASS FUNCOTATION=[CLCN6|hg19|chr1|11894624|11894624|NONSENSE||SNP|G|G|A|g.chr1:11894624G>A|ENST00000346436.6|+|17|1822|c.1770G>A|c.(1768-1770)tgG>tgA|p.W590*|0.5211970074812967|TTCTGGAATGGGAGACAGAGG|CLCN6_ENST00000376496.3_NONSENSE_p.W590*/CLCN6_ENST00000376487.3_NONSENSE_p.W568*/CLCN6_ENST00000312413.6_THREE_PRIME_UTR|||||||||||||||||||||||CLCN6{ENST00000346436}:r.1_199_BRAF{ENST00000288602}:r.1376_2480(2)||187|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(140)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X99475|NM_001286.3|NP_001277.1|HGNC:2024|chloride_%20_voltage-gated_%20_channel_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"chloride_%20_channel_%20_6"_%2C__%20_"chloride_%20_channel_%2C__%20_voltage-sensitive_%20_6"|CLC-6_%2C__%20_KIAA0046_%2C__%20_ClC-6||1p36.22|2016-02-04||2016-02-04|X83378||1185|ENSG00000011021|8543009|NM_001286|302|Chloride_%20_voltage-gated_%20_channels|CCDS138_%2C__%20_CCDS57972|OTTHUMG00000002299|1185|602726|NM_001256959|P51797|ENSG00000011021|uc001ate.6|CLCN6_HUMAN||A8K1T4_%7C_B4DGT7_%7C_F8W9R3_%7C_O60818_%7C_O60819_%7C_O60820_%7C_O60821_%7C_P78520_%7C_P78521_%7C_Q17R81_%7C_Q5SNW2_%7C_Q5SNW3_%7C_Q5SNX1_%7C_Q5SNX2_%7C_Q5SNX3_%7C_Q99427_%7C_Q99428_%7C_Q99429|P51797|cell_%20_volume_%20_homeostasis_%20_(GO:0006884)_%7C_chloride_%20_transport_%20_(GO:0006821)_%7C_ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_regulation_%20_of_%20_anion_%20_transport_%20_(GO:0044070)_%7C_response_%20_to_%20_mechanical_%20_stimulus_%20_(GO:0009612)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|endosome_%20_membrane_%20_(GO:0010008)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)|antiporter_%20_activity_%20_(GO:0015297)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_voltage-gated_%20_chloride_%20_channel_%20_activity_%20_(GO:0005247)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 11901592 rs198415 T C . PASS FUNCOTATION=[CLCN6|hg19|chr1|11901592|11901592|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:11901592T>C|ENST00000346436.6|+|23|||||0.5860349127182045|TACATGGTATTAGTCCCAGCA|CLCN6_ENST00000312413.6_THREE_PRIME_UTR/NPPA-AS1_ENST00000446542.1_RNA/NPPA-AS1_ENST00000400892.2_FIVE_PRIME_FLANK|||||||||||||||||||||||CLCN6{ENST00000346436}:r.1_199_BRAF{ENST00000288602}:r.1376_2480(2)||187|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(140)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X99475|NM_001286.3|NP_001277.1|HGNC:2024|chloride_%20_voltage-gated_%20_channel_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"chloride_%20_channel_%20_6"_%2C__%20_"chloride_%20_channel_%2C__%20_voltage-sensitive_%20_6"|CLC-6_%2C__%20_KIAA0046_%2C__%20_ClC-6||1p36.22|2016-02-04||2016-02-04|X83378||1185|ENSG00000011021|8543009|NM_001286|302|Chloride_%20_voltage-gated_%20_channels|CCDS138_%2C__%20_CCDS57972|OTTHUMG00000002299|1185|602726|NM_001256959|P51797|ENSG00000011021|uc001ate.6|CLCN6_HUMAN||A8K1T4_%7C_B4DGT7_%7C_F8W9R3_%7C_O60818_%7C_O60819_%7C_O60820_%7C_O60821_%7C_P78520_%7C_P78521_%7C_Q17R81_%7C_Q5SNW2_%7C_Q5SNW3_%7C_Q5SNX1_%7C_Q5SNX2_%7C_Q5SNX3_%7C_Q99427_%7C_Q99428_%7C_Q99429|P51797|cell_%20_volume_%20_homeostasis_%20_(GO:0006884)_%7C_chloride_%20_transport_%20_(GO:0006821)_%7C_ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_regulation_%20_of_%20_anion_%20_transport_%20_(GO:0044070)_%7C_response_%20_to_%20_mechanical_%20_stimulus_%20_(GO:0009612)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|endosome_%20_membrane_%20_(GO:0010008)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)|antiporter_%20_activity_%20_(GO:0015297)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_voltage-gated_%20_chloride_%20_channel_%20_activity_%20_(GO:0005247)||||true|false|0.8381_%2C_0.1619|false|false|1||false|true|false|CLCN6:1185_%7C_NPPA-AS1:100379251|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|198415|11901592|false|false|0|true|0|false|0.760286_%2C_0.239714|false|true|false|SNV|true|0x05010088000515053f000100|1|false|79|rs198415|] -chr1 11906068 exm15531 A G . PASS FUNCOTATION=[NPPA|hg19|chr1|11906068|11906068|NONSTOP||SNP|A|A|G|g.chr1:11906068A>G|ENST00000376480.3|-|3|553|c.454T>C|c.(454-456)Tga>Cga|p.*152R|0.4937655860349127|TGTTATCTTCAGTACTGCAAA|NPPA_ENST00000376476.1_NONSTOP_p.*102R/NPPA-AS1_ENST00000446542.1_RNA/NPPA-AS1_ENST00000400892.2_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X02558|NM_006172.3|NP_006163.1|HGNC:7939|natriuretic_%20_peptide_%20_A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ANP_%2C__%20_PND|"natriuretic_%20_peptide_%20_precursor_%20_A"|||1p36.22|2017-03-24||2010-11-09|BC005893||4878|ENSG00000175206||NM_006172|542|Endogenous_%20_ligands|CCDS139|OTTHUMG00000002388|4878|108780|NM_006172|P01160|ENSG00000175206|uc001ati.4|ANF_HUMAN||Q13766_%7C_Q5JZE1|P01160|cardiac_%20_muscle_%20_hypertrophy_%20_in_%20_response_%20_to_%20_stress_%20_(GO:0014898)_%7C_cellular_%20_response_%20_to_%20_mechanical_%20_stimulus_%20_(GO:0071260)_%7C_cGMP_%20_biosynthetic_%20_process_%20_(GO:0006182)_%7C_female_%20_pregnancy_%20_(GO:0007565)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_systemic_%20_arterial_%20_blood_%20_pressure_%20_(GO:0003085)_%7C_receptor_%20_guanylyl_%20_cyclase_%20_signaling_%20_pathway_%20_(GO:0007168)_%7C_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_regulation_%20_of_%20_blood_%20_vessel_%20_size_%20_(GO:0050880)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_response_%20_to_%20_insulin_%20_(GO:0032868)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_mast_%20_cell_%20_granule_%20_(GO:0042629)_%7C_nucleus_%20_(GO:0005634)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)|receptor_%20_binding_%20_(GO:0005102)||||true|false|0.8209_%2C_0.1791|false|false|1||false|true|false|NPPA:4878_%7C_NPPA-AS1:100379251|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|5065|11906068|false|false|0|true|0|false|0.737688_%2C_0.262312|true|false|false|SNV|true|0x05013808020515053f000100|1|false|52|rs5065|] -chr1 11906068 rs5065 A G . PASS FUNCOTATION=[NPPA|hg19|chr1|11906068|11906068|NONSTOP||SNP|A|A|G|g.chr1:11906068A>G|ENST00000376480.3|-|3|553|c.454T>C|c.(454-456)Tga>Cga|p.*152R|0.4937655860349127|TGTTATCTTCAGTACTGCAAA|NPPA_ENST00000376476.1_NONSTOP_p.*102R/NPPA-AS1_ENST00000446542.1_RNA/NPPA-AS1_ENST00000400892.2_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X02558|NM_006172.3|NP_006163.1|HGNC:7939|natriuretic_%20_peptide_%20_A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ANP_%2C__%20_PND|"natriuretic_%20_peptide_%20_precursor_%20_A"|||1p36.22|2017-03-24||2010-11-09|BC005893||4878|ENSG00000175206||NM_006172|542|Endogenous_%20_ligands|CCDS139|OTTHUMG00000002388|4878|108780|NM_006172|P01160|ENSG00000175206|uc001ati.4|ANF_HUMAN||Q13766_%7C_Q5JZE1|P01160|cardiac_%20_muscle_%20_hypertrophy_%20_in_%20_response_%20_to_%20_stress_%20_(GO:0014898)_%7C_cellular_%20_response_%20_to_%20_mechanical_%20_stimulus_%20_(GO:0071260)_%7C_cGMP_%20_biosynthetic_%20_process_%20_(GO:0006182)_%7C_female_%20_pregnancy_%20_(GO:0007565)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_systemic_%20_arterial_%20_blood_%20_pressure_%20_(GO:0003085)_%7C_receptor_%20_guanylyl_%20_cyclase_%20_signaling_%20_pathway_%20_(GO:0007168)_%7C_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_regulation_%20_of_%20_blood_%20_vessel_%20_size_%20_(GO:0050880)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_response_%20_to_%20_insulin_%20_(GO:0032868)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_mast_%20_cell_%20_granule_%20_(GO:0042629)_%7C_nucleus_%20_(GO:0005634)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)|receptor_%20_binding_%20_(GO:0005102)||||true|false|0.8209_%2C_0.1791|false|false|1||false|true|false|NPPA:4878_%7C_NPPA-AS1:100379251|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|5065|11906068|false|false|0|true|0|false|0.737688_%2C_0.262312|true|false|false|SNV|true|0x05013808020515053f000100|1|false|52|rs5065|] -chr1 12025599 exm15795 C G . PASS FUNCOTATION=[PLOD1|hg19|chr1|12025599|12025599|NONSENSE||SNP|C|C|G|g.chr1:12025599C>G|ENST00000196061.4|+|14|1560|c.1533C>G|c.(1531-1533)taC>taG|p.Y511*|0.6384039900249376|TAGACAGCTACCGCACCACCC|PLOD1_ENST00000376369.3_NONSENSE_p.Y558*|||||||||||||||||||||||||242|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||L06419|NM_000302.3|NP_000293.2|HGNC:9081|procollagen-lysine_%2C_2-oxoglutarate_%20_5-dioxygenase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|LLH_%2C__%20_PLOD|"procollagen-lysine_%20_1_%2C__%20_2-oxoglutarate_%20_5-dioxygenase_%20_(lysine_%20_hydroxylase_%2C__%20_Ehlers-Danlos_%20_syndrome_%20_type_%20_VI)"|LH1|"lysyl_%20_hydroxlase_%20_1"|1p36.22|2016-04-06|2004-12-14|2016-04-06|BC016657|1.14.11.4|5351|ENSG00000083444|1577494|NM_000302|||CCDS142|OTTHUMG00000002393|5351|153454|NM_000302|Q02809|ENSG00000083444|uc001atm.4|PLOD1_HUMAN|Succinic_%20_acid(DB00139)_%7C_Vitamin_%20_C(DB00126)|B4DR87_%7C_Q96AV9_%7C_Q9H132|Q02809|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)_%7C_epidermis_%20_development_%20_(GO:0008544)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_hydroxylysine_%20_biosynthetic_%20_process_%20_(GO:0046947)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|iron_%20_ion_%20_binding_%20_(GO:0005506)_%7C_L-ascorbic_%20_acid_%20_binding_%20_(GO:0031418)_%7C_procollagen-lysine_%20_5-dioxygenase_%20_activity_%20_(GO:0008475)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 12069756 indel.888 CACTT C . PASS FUNCOTATION=[MFN2|hg19|chr1|12069757|12069760|FRAME_SHIFT_DEL||DEL|ACTT|ACTT|-|g.chr1:12069757_12069760delACTT|ENST00000235329.5|+|18|2499_2502|c.2178_2181delACTT|c.(2176-2181)tcacttfs|p.L727fs|0.5693069306930693|TTCTTGACTCACTTCAGAGCAAAG|MFN2_ENST00000444836.1_FRAME_SHIFT_DEL_p.L727fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||D86987|NM_014874.3|NP_055689.1|HGNC:16877|mitofusin_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CPRP1_%2C__%20_KIAA0214_%2C__%20_MARF_%2C__%20_CMT2A2||1p36.22|2017-03-24|||AF036536||9927|ENSG00000116688|12499352_%2C__%20_11181170|NM_014874|||CCDS30587|OTTHUMG00000002392|9927|608507|NM_001127660|O95140|ENSG00000116688|uc009vni.4|MFN2_HUMAN||A8K1B3_%7C_O95572_%7C_Q5JXC3_%7C_Q5JXC4_%7C_Q9H131_%7C_Q9NSX8|O95140|apoptotic_%20_process_%20_(GO:0006915)_%7C_autophagy_%20_(GO:0006914)_%7C_blastocyst_%20_formation_%20_(GO:0001825)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_mitochondrial_%20_fusion_%20_(GO:0008053)_%7C_mitochondrial_%20_membrane_%20_organization_%20_(GO:0007006)_%7C_mitochondrion_%20_localization_%20_(GO:0051646)_%7C_negative_%20_regulation_%20_of_%20_Ras_%20_protein_%20_signal_%20_transduction_%20_(GO:0046580)_%7C_negative_%20_regulation_%20_of_%20_smooth_%20_muscle_%20_cell_%20_proliferation_%20_(GO:0048662)_%7C_protein_%20_localization_%20_to_%20_pre-autophagosomal_%20_structure_%20_(GO:0034497)_%7C_protein_%20_targeting_%20_to_%20_mitochondrion_%20_(GO:0006626)_%7C_response_%20_to_%20_unfolded_%20_protein_%20_(GO:0006986)|cytosol_%20_(GO:0005829)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intrinsic_%20_component_%20_of_%20_mitochondrial_%20_outer_%20_membrane_%20_(GO:0031306)_%7C_microtubule_%20_cytoskeleton_%20_(GO:0015630)_%7C_mitochondrial_%20_outer_%20_membrane_%20_(GO:0005741)_%7C_mitochondrion_%20_(GO:0005739)|GTP_%20_binding_%20_(GO:0005525)_%7C_GTPase_%20_activity_%20_(GO:0003924)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)||||true|false||false|false|||false|false|false|MFN2:9927|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|772270096|12069757|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs772270096|] -chr1 12082195 exm15947 C A . PASS FUNCOTATION=[MIIP|hg19|chr1|12082195|12082195|NONSENSE||SNP|C|C|A|g.chr1:12082195C>A|ENST00000235332.4|+|3|327|c.158C>A|c.(157-159)tCg>tAg|p.S53*|0.6483790523690773|GAGACTCCATCGACCCCAGAG|MIIP_ENST00000436478.2_NONSENSE_p.S53*/MIIP_ENST00000466860.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||FJ618905|NM_021933.3|NP_068752.2|HGNC:25715|migration_%20_and_%20_invasion_%20_inhibitory_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ12438_%2C__%20_IIp45|"invasion_%20_inhibitory_%20_protein_%20_45"|1p36.22|2014-11-19|||AK022500||60672|ENSG00000116691|15867349_%2C__%20_14617774|NM_021933|||CCDS143|OTTHUMG00000002439|60672|608772|NM_021933|Q5JXC2|ENSG00000116691|uc001ato.3|MIIP_HUMAN||C0KL22_%7C_Q96HU6_%7C_Q9H839_%7C_Q9HA00|Q5JXC2|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 12090140 exm16010 C T . PASS FUNCOTATION=[MIIP|hg19|chr1|12090140|12090140|NONSENSE||SNP|C|C|T|g.chr1:12090140C>T|ENST00000235332.4|+|8|1070|c.901C>T|c.(901-903)Cga>Tga|p.R301*|0.6533665835411472|CATCCACCGGCGAAAGAGCTT|MIIP_ENST00000436478.2_INTRON/MIIP_ENST00000466860.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||FJ618905|NM_021933.3|NP_068752.2|HGNC:25715|migration_%20_and_%20_invasion_%20_inhibitory_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ12438_%2C__%20_IIp45|"invasion_%20_inhibitory_%20_protein_%20_45"|1p36.22|2014-11-19|||AK022500||60672|ENSG00000116691|15867349_%2C__%20_14617774|NM_021933|||CCDS143|OTTHUMG00000002439|60672|608772|NM_021933|Q5JXC2|ENSG00000116691|uc001ato.3|MIIP_HUMAN||C0KL22_%7C_Q96HU6_%7C_Q9H839_%7C_Q9HA00|Q5JXC2|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 12318010 variant.909 T G . PASS FUNCOTATION=[VPS13D|hg19|chr1|12318010|12318010|NONSENSE||SNP|T|T|G|g.chr1:12318010T>G|ENST00000358136.3|+|10|1090|c.960T>G|c.(958-960)taT>taG|p.Y320*|0.4164588528678304|AATGGTGGTATTTTGCTTTGA|VPS13D_ENST00000356315.4_NONSENSE_p.Y320*|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(12)_%7C_oesophagus(5)_%7C_pancreas(22)|||||||BX784396|NM_015378.2|NP_056193.2|HGNC:23595|vacuolar_%20_protein_%20_sorting_%20_13_%20_homolog_%20_D|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"vacuolar_%20_protein_%20_sorting_%20_13D_%20_(yeast)"_%2C__%20_"vacuolar_%20_protein_%20_sorting_%20_13_%20_homolog_%20_D_%20_(S._%20_cerevisiae)"|FLJ10619_%2C__%20_KIAA0453||1p36.22-p36.21|2017-06-08||2016-04-05|AJ608774||55187|ENSG00000048707||NM_015378|||CCDS30588_%2C__%20_CCDS30589|OTTHUMG00000013155|55187|608877|NM_015378|Q5THJ4|ENSG00000048707|uc031tou.2|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 12336193 variant.914 G T . PASS FUNCOTATION=[VPS13D|hg19|chr1|12336193|12336193|NONSENSE||SNP|G|G|T|g.chr1:12336193G>T|ENST00000358136.3|+|19|2678|c.2548G>T|c.(2548-2550)Gag>Tag|p.E850*|0.4239401496259352|ACATGTGGTAGAGAAGTTCAA|VPS13D_ENST00000356315.4_NONSENSE_p.E850*|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(12)_%7C_oesophagus(5)_%7C_pancreas(22)|||||||BX784396|NM_015378.2|NP_056193.2|HGNC:23595|vacuolar_%20_protein_%20_sorting_%20_13_%20_homolog_%20_D|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"vacuolar_%20_protein_%20_sorting_%20_13D_%20_(yeast)"_%2C__%20_"vacuolar_%20_protein_%20_sorting_%20_13_%20_homolog_%20_D_%20_(S._%20_cerevisiae)"|FLJ10619_%2C__%20_KIAA0453||1p36.22-p36.21|2017-06-08||2016-04-05|AJ608774||55187|ENSG00000048707||NM_015378|||CCDS30588_%2C__%20_CCDS30589|OTTHUMG00000013155|55187|608877|NM_015378|Q5THJ4|ENSG00000048707|uc031tou.2|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 12446382 variant.919 C T . PASS FUNCOTATION=[VPS13D|hg19|chr1|12446382|12446382|NONSENSE||SNP|C|C|T|g.chr1:12446382C>T|ENST00000358136.3|+|60|11753|c.11623C>T|c.(11623-11625)Cag>Tag|p.Q3875*|0.3940149625935162|ACTCAGCATACAGGATGTACA|VPS13D_ENST00000356315.4_NONSENSE_p.Q3850*/VPS13D_ENST00000496628.1_INTRON|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(12)_%7C_oesophagus(5)_%7C_pancreas(22)|||||||BX784396|NM_015378.2|NP_056193.2|HGNC:23595|vacuolar_%20_protein_%20_sorting_%20_13_%20_homolog_%20_D|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"vacuolar_%20_protein_%20_sorting_%20_13D_%20_(yeast)"_%2C__%20_"vacuolar_%20_protein_%20_sorting_%20_13_%20_homolog_%20_D_%20_(S._%20_cerevisiae)"|FLJ10619_%2C__%20_KIAA0453||1p36.22-p36.21|2017-06-08||2016-04-05|AJ608774||55187|ENSG00000048707||NM_015378|||CCDS30588_%2C__%20_CCDS30589|OTTHUMG00000013155|55187|608877|NM_015378|Q5THJ4|ENSG00000048707|uc031tou.2|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 12627990 kgp15181256 T C . PASS FUNCOTATION=[DHRS3|hg19|chr1|12627990|12627990|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:12627990T>C|ENST00000376223.2|-|6|||||0.4937655860349127|AACCAGTTTGTGCAAGCTGAG||||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(2)|||||||DQ426869|NM_004753.4|NP_004744.2|HGNC:17693|dehydrogenase/reductase_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dehydrogenase/reductase_%20_(SDR_%20_family)_%20_member_%20_3"|retSDR1_%2C__%20_Rsdr1_%2C__%20_SDR1_%2C__%20_RDH17_%2C__%20_SDR16C1|"short_%20_chain_%20_dehydrogenase/reductase_%20_family_%20_16C_%2C__%20_member_%20_1"|1p36.21|2016-10-05||2016-05-27|AF061741|1.1.1.300|9249|ENSG00000162496|9705317_%2C__%20_12226107_%2C__%20_19027726|NM_004753|743|Short_%20_chain_%20_dehydrogenase/reductase_%20_superfamily|CCDS146|OTTHUMG00000001885|9249|612830|NM_001319225|O75911|ENSG00000162496|uc031tpa.2|DHRS3_HUMAN|Vitamin_%20_A(DB00162)|B2R7F3_%7C_Q5VUY3_%7C_Q6UY38_%7C_Q9BUC8|O75911|bone_%20_morphogenesis_%20_(GO:0060349)_%7C_cardiac_%20_septum_%20_morphogenesis_%20_(GO:0060411)_%7C_negative_%20_regulation_%20_of_%20_retinoic_%20_acid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048387)_%7C_outflow_%20_tract_%20_morphogenesis_%20_(GO:0003151)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_regulation_%20_of_%20_ossification_%20_(GO:0030278)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_retinol_%20_metabolic_%20_process_%20_(GO:0042572)_%7C_visual_%20_perception_%20_(GO:0007601)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_photoreceptor_%20_outer_%20_segment_%20_membrane_%20_(GO:0042622)|electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_NADP-retinol_%20_dehydrogenase_%20_activity_%20_(GO:0052650)_%7C_nucleotide_%20_binding_%20_(GO:0000166)_%7C_retinol_%20_dehydrogenase_%20_activity_%20_(GO:0004745)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 12628067 kgp15637314 A C . PASS FUNCOTATION=[DHRS3|hg19|chr1|12628067|12628067|THREE_PRIME_UTR||SNP|A|A|C|g.chr1:12628067A>C|ENST00000376223.2|-|6|||||0.5112219451371571|TGGTCTATGCACACTGCTGAG||||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(2)|||||||DQ426869|NM_004753.4|NP_004744.2|HGNC:17693|dehydrogenase/reductase_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dehydrogenase/reductase_%20_(SDR_%20_family)_%20_member_%20_3"|retSDR1_%2C__%20_Rsdr1_%2C__%20_SDR1_%2C__%20_RDH17_%2C__%20_SDR16C1|"short_%20_chain_%20_dehydrogenase/reductase_%20_family_%20_16C_%2C__%20_member_%20_1"|1p36.21|2016-10-05||2016-05-27|AF061741|1.1.1.300|9249|ENSG00000162496|9705317_%2C__%20_12226107_%2C__%20_19027726|NM_004753|743|Short_%20_chain_%20_dehydrogenase/reductase_%20_superfamily|CCDS146|OTTHUMG00000001885|9249|612830|NM_001319225|O75911|ENSG00000162496|uc031tpa.2|DHRS3_HUMAN|Vitamin_%20_A(DB00162)|B2R7F3_%7C_Q5VUY3_%7C_Q6UY38_%7C_Q9BUC8|O75911|bone_%20_morphogenesis_%20_(GO:0060349)_%7C_cardiac_%20_septum_%20_morphogenesis_%20_(GO:0060411)_%7C_negative_%20_regulation_%20_of_%20_retinoic_%20_acid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048387)_%7C_outflow_%20_tract_%20_morphogenesis_%20_(GO:0003151)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_regulation_%20_of_%20_ossification_%20_(GO:0030278)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_retinol_%20_metabolic_%20_process_%20_(GO:0042572)_%7C_visual_%20_perception_%20_(GO:0007601)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_photoreceptor_%20_outer_%20_segment_%20_membrane_%20_(GO:0042622)|electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_NADP-retinol_%20_dehydrogenase_%20_activity_%20_(GO:0052650)_%7C_nucleotide_%20_binding_%20_(GO:0000166)_%7C_retinol_%20_dehydrogenase_%20_activity_%20_(GO:0004745)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 12628188 rs4580 T C . PASS FUNCOTATION=[DHRS3|hg19|chr1|12628188|12628188|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:12628188T>C|ENST00000376223.2|-|6|||||0.5511221945137157|GGGTCAGTTATACCCATCAGT||||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(2)|||||||DQ426869|NM_004753.4|NP_004744.2|HGNC:17693|dehydrogenase/reductase_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dehydrogenase/reductase_%20_(SDR_%20_family)_%20_member_%20_3"|retSDR1_%2C__%20_Rsdr1_%2C__%20_SDR1_%2C__%20_RDH17_%2C__%20_SDR16C1|"short_%20_chain_%20_dehydrogenase/reductase_%20_family_%20_16C_%2C__%20_member_%20_1"|1p36.21|2016-10-05||2016-05-27|AF061741|1.1.1.300|9249|ENSG00000162496|9705317_%2C__%20_12226107_%2C__%20_19027726|NM_004753|743|Short_%20_chain_%20_dehydrogenase/reductase_%20_superfamily|CCDS146|OTTHUMG00000001885|9249|612830|NM_001319225|O75911|ENSG00000162496|uc031tpa.2|DHRS3_HUMAN|Vitamin_%20_A(DB00162)|B2R7F3_%7C_Q5VUY3_%7C_Q6UY38_%7C_Q9BUC8|O75911|bone_%20_morphogenesis_%20_(GO:0060349)_%7C_cardiac_%20_septum_%20_morphogenesis_%20_(GO:0060411)_%7C_negative_%20_regulation_%20_of_%20_retinoic_%20_acid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048387)_%7C_outflow_%20_tract_%20_morphogenesis_%20_(GO:0003151)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_regulation_%20_of_%20_ossification_%20_(GO:0030278)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_retinol_%20_metabolic_%20_process_%20_(GO:0042572)_%7C_visual_%20_perception_%20_(GO:0007601)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_photoreceptor_%20_outer_%20_segment_%20_membrane_%20_(GO:0042622)|electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_NADP-retinol_%20_dehydrogenase_%20_activity_%20_(GO:0052650)_%7C_nucleotide_%20_binding_%20_(GO:0000166)_%7C_retinol_%20_dehydrogenase_%20_activity_%20_(GO:0004745)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 12677525 kgp7821980 G A . PASS FUNCOTATION=[DHRS3|hg19|chr1|12677525|12677525|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:12677525G>A|ENST00000376223.2|-|1|||||0.5112219451371571|GTGAGAAAAAGAAAAAAAAAA|DHRS3_ENST00000482265.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(2)|||||||DQ426869|NM_004753.4|NP_004744.2|HGNC:17693|dehydrogenase/reductase_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dehydrogenase/reductase_%20_(SDR_%20_family)_%20_member_%20_3"|retSDR1_%2C__%20_Rsdr1_%2C__%20_SDR1_%2C__%20_RDH17_%2C__%20_SDR16C1|"short_%20_chain_%20_dehydrogenase/reductase_%20_family_%20_16C_%2C__%20_member_%20_1"|1p36.21|2016-10-05||2016-05-27|AF061741|1.1.1.300|9249|ENSG00000162496|9705317_%2C__%20_12226107_%2C__%20_19027726|NM_004753|743|Short_%20_chain_%20_dehydrogenase/reductase_%20_superfamily|CCDS146|OTTHUMG00000001885|9249|612830|NM_001319225|O75911|ENSG00000162496|uc031tpa.2|DHRS3_HUMAN|Vitamin_%20_A(DB00162)|B2R7F3_%7C_Q5VUY3_%7C_Q6UY38_%7C_Q9BUC8|O75911|bone_%20_morphogenesis_%20_(GO:0060349)_%7C_cardiac_%20_septum_%20_morphogenesis_%20_(GO:0060411)_%7C_negative_%20_regulation_%20_of_%20_retinoic_%20_acid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048387)_%7C_outflow_%20_tract_%20_morphogenesis_%20_(GO:0003151)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_regulation_%20_of_%20_ossification_%20_(GO:0030278)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_retinol_%20_metabolic_%20_process_%20_(GO:0042572)_%7C_visual_%20_perception_%20_(GO:0007601)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_photoreceptor_%20_outer_%20_segment_%20_membrane_%20_(GO:0042622)|electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_NADP-retinol_%20_dehydrogenase_%20_activity_%20_(GO:0052650)_%7C_nucleotide_%20_binding_%20_(GO:0000166)_%7C_retinol_%20_dehydrogenase_%20_activity_%20_(GO:0004745)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 12726174 newrs138451476 C T . PASS FUNCOTATION=[AADACL4|hg19|chr1|12726174|12726174|NONSENSE||SNP|C|C|T|g.chr1:12726174C>T|ENST00000376221.1|+|4|652|c.652C>T|c.(652-654)Cag>Tag|p.Q218*|0.5511221945137157|GATCCGGGCTCAGGTTCTGAT||||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AL513016|NM_001013630.1|NP_001013652.1|HGNC:32038|arylacetamide_%20_deacetylase_%20_like_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||OTTHUMG00000001889||1p36.21|2016-05-26||2016-05-26|||343066|ENSG00000204518||NM_001013630|465|Arylacetamide_%20_deacetylase_%20_family|CCDS30590|OTTHUMG00000001889|343066||NM_001013630|Q5VUY2|ENSG00000204518|uc001auf.3|ADCL4_HUMAN|||Q5VUY2||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|carboxylic_%20_ester_%20_hydrolase_%20_activity_%20_(GO:0052689)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 12776218 rs3000860 A C . PASS FUNCOTATION=[AADACL3|hg19|chr1|12776218|12776218|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:12776218A>C|ENST00000359318.5|+|1|||||0.5586034912718204|CAGCAGCCTGAGTGTTCTCAC|AADACL3_ENST00000332530.3_FIVE_PRIME_UTR|||||||||||||||||||||||||22|central_nervous_system(22)|||||||AL513016|NM_001103170.1|NP_001096640.1|HGNC:32037|arylacetamide_%20_deacetylase_%20_like_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||OTTHUMG00000001887||1p36.21|2016-05-26||2016-05-26|||126767|ENSG00000188984||NM_001103170|465|Arylacetamide_%20_deacetylase_%20_family|CCDS41253|OTTHUMG00000001887|126767||NM_001103170|Q5VUY0|ENSG00000188984|uc057ckc.1|ADCL3_HUMAN||B3KXR9_%7C_Q5VUY1|Q5VUY0|||hydrolase_%20_activity_%20_(GO:0016787)||||true|false|0.1436_%2C_0.8564|false|false|1||false|true|true|AADACL3:126767|true|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|3000860|12776218|true|false|0|true|0|false||false|false|true|SNV|true|0x05010040060517053f000100|1|false|101|rs3000860|] -chr1 12776344 exm16961 A T . PASS FUNCOTATION=[AADACL3|hg19|chr1|12776344|12776344|FIVE_PRIME_UTR||SNP|A|A|T|g.chr1:12776344A>T|ENST00000359318.5|+|1|||||0.5311720698254364|TGCTGTTGACATGGGTGAGTT|AADACL3_ENST00000332530.3_START_CODON_SNP_p.M1L|||||||||||||||||||||||||22|central_nervous_system(22)|||||||AL513016|NM_001103170.1|NP_001096640.1|HGNC:32037|arylacetamide_%20_deacetylase_%20_like_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||OTTHUMG00000001887||1p36.21|2016-05-26||2016-05-26|||126767|ENSG00000188984||NM_001103170|465|Arylacetamide_%20_deacetylase_%20_family|CCDS41253|OTTHUMG00000001887|126767||NM_001103170|Q5VUY0|ENSG00000188984|uc057ckc.1|ADCL3_HUMAN||B3KXR9_%7C_Q5VUY1|Q5VUY0|||hydrolase_%20_activity_%20_(GO:0016787)||||true|false|0.3435_%2C_0.6565|false|false|1||false|true|true|AADACL3:126767|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|3000859|12776344|true|true|0|true|0|true||false|false|false|SNV|true|0x050300000b0517053f000100|1|false|101|rs3000859|] -chr1 12785415 variant.931 C T . PASS FUNCOTATION=[AADACL3|hg19|chr1|12785415|12785415|NONSENSE||SNP|C|C|T|g.chr1:12785415C>T|ENST00000359318.5|+|4|710|c.505C>T|c.(505-507)Caa>Taa|p.Q169*|0.5187032418952618|TGCCATTCTCCAAGCCCTGGA|AADACL3_ENST00000332530.3_NONSENSE_p.Q99*|||||||||||||||||||||||||22|central_nervous_system(22)|||||||AL513016|NM_001103170.1|NP_001096640.1|HGNC:32037|arylacetamide_%20_deacetylase_%20_like_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||OTTHUMG00000001887||1p36.21|2016-05-26||2016-05-26|||126767|ENSG00000188984||NM_001103170|465|Arylacetamide_%20_deacetylase_%20_family|CCDS41253|OTTHUMG00000001887|126767||NM_001103170|Q5VUY0|ENSG00000188984|uc057ckc.1|ADCL3_HUMAN||B3KXR9_%7C_Q5VUY1|Q5VUY0|||hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|AADACL3:126767|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|371819166|12785415|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000605040402000100|1|false|138|rs371819166|] -chr1 12785541 indel.932 AT A . PASS FUNCOTATION=[AADACL3|hg19|chr1|12785542|12785542|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:12785542delT|ENST00000359318.5|+|4|836|c.632delT|c.(631-633)atgfs|p.M211fs|0.4912718204488778|GAGGTCATCATGAAAGGTGCC|AADACL3_ENST00000332530.3_FRAME_SHIFT_DEL_p.M141fs|||||||||||||||||||||||||22|central_nervous_system(22)|||||||AL513016|NM_001103170.1|NP_001096640.1|HGNC:32037|arylacetamide_%20_deacetylase_%20_like_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||OTTHUMG00000001887||1p36.21|2016-05-26||2016-05-26|||126767|ENSG00000188984||NM_001103170|465|Arylacetamide_%20_deacetylase_%20_family|CCDS41253|OTTHUMG00000001887|126767||NM_001103170|Q5VUY0|ENSG00000188984|uc057ckc.1|ADCL3_HUMAN||B3KXR9_%7C_Q5VUY1|Q5VUY0|||hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|AADACL3:126767|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|763283137|12785542|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs763283137|] -chr1 12806478 exm1707180 G T . PASS FUNCOTATION=[C1orf158|hg19|chr1|12806478|12806478|NONSENSE||SNP|G|G|T|g.chr1:12806478G>T|ENST00000288048.5|+|1|316|c.100G>T|c.(100-102)Gag>Tag|p.E34*|0.4513715710723192|TTGGATGGAAGAGAGGAGAAA|C1orf158_ENST00000376210.3_NONSENSE_p.E34*/C1orf158_ENST00000474179.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC029894|NM_152290.2|NP_689503.2|HGNC:28567|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_158|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC35194||1p36.21|2016-09-30|||BX647383||93190|ENSG00000157330|12477932|NM_152290|||CCDS147_%2C__%20_CCDS81264|OTTHUMG00000001888|93190||NM_152290|Q8N1D5|ENSG00000157330|uc001auh.4|CA158_HUMAN||Q5VUY4|Q8N1D5|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 12815677 exm17037 C T . PASS FUNCOTATION=[C1orf158|hg19|chr1|12815677|12815677|NONSENSE||SNP|C|C|T|g.chr1:12815677C>T|ENST00000288048.5|+|2|355|c.139C>T|c.(139-141)Caa>Taa|p.Q47*|0.5211970074812967|CAAGACACCCCAATCCATTTA|C1orf158_ENST00000376210.3_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC029894|NM_152290.2|NP_689503.2|HGNC:28567|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_158|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC35194||1p36.21|2016-09-30|||BX647383||93190|ENSG00000157330|12477932|NM_152290|||CCDS147_%2C__%20_CCDS81264|OTTHUMG00000001888|93190||NM_152290|Q8N1D5|ENSG00000157330|uc001auh.4|CA158_HUMAN||Q5VUY4|Q8N1D5|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 12815677 newrs147495703 C T . PASS FUNCOTATION=[C1orf158|hg19|chr1|12815677|12815677|NONSENSE||SNP|C|C|T|g.chr1:12815677C>T|ENST00000288048.5|+|2|355|c.139C>T|c.(139-141)Caa>Taa|p.Q47*|0.5211970074812967|CAAGACACCCCAATCCATTTA|C1orf158_ENST00000376210.3_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC029894|NM_152290.2|NP_689503.2|HGNC:28567|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_158|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC35194||1p36.21|2016-09-30|||BX647383||93190|ENSG00000157330|12477932|NM_152290|||CCDS147_%2C__%20_CCDS81264|OTTHUMG00000001888|93190||NM_152290|Q8N1D5|ENSG00000157330|uc001auh.4|CA158_HUMAN||Q5VUY4|Q8N1D5|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 12835245 variant.939 C T . PASS FUNCOTATION=[PRAMEF12|hg19|chr1|12835245|12835245|NONSENSE||SNP|C|C|T|g.chr1:12835245C>T|ENST00000357726.4|+|1|262|c.235C>T|c.(235-237)Cga>Tga|p.R79*|0.6059850374064838|AGAGATCTTTCGAGCTGTGCT||||||||||||||||||||||||||24|central_nervous_system(22)_%7C_lung(2)|||||||AL023753|NM_001080830.1|NP_001074299.1|HGNC:22125|PRAME_%20_family_%20_member_%20_12|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||OTTHUMG00000001927||1p36.21|2015-09-10|||||390999|ENSG00000116726||XM_372760|686|PRAME_%20_family|CCDS41254|OTTHUMG00000001927|390999||NM_001080830|O95522|ENSG00000116726|uc001aui.5|PRA12_HUMAN|||O95522|negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045596)_%7C_negative_%20_regulation_%20_of_%20_retinoic_%20_acid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048387)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 12835692 indel.940 GA G . PASS FUNCOTATION=[PRAMEF12|hg19|chr1|12835693|12835693|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:12835693delA|ENST00000357726.4|+|2|321|c.295delA|c.(295-297)aaafs|p.K99fs|0.5311720698254364|CAGGCGGTGGAAACTTCAAGT||||||||||||||||||||||||||24|central_nervous_system(22)_%7C_lung(2)|||||||AL023753|NM_001080830.1|NP_001074299.1|HGNC:22125|PRAME_%20_family_%20_member_%20_12|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||OTTHUMG00000001927||1p36.21|2015-09-10|||||390999|ENSG00000116726||XM_372760|686|PRAME_%20_family|CCDS41254|OTTHUMG00000001927|390999||NM_001080830|O95522|ENSG00000116726|uc001aui.5|PRA12_HUMAN|||O95522|negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045596)_%7C_negative_%20_regulation_%20_of_%20_retinoic_%20_acid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048387)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 12907683 exm17419 G A . PASS FUNCOTATION=[HNRNPCL1|hg19|chr1|12907683|12907683|NONSENSE||SNP|G|G|A|g.chr1:12907683G>A|ENST00000317869.6|-|2|686|c.460C>T|c.(460-462)Cga>Tga|p.R154*|0.46633416458852867|TTGCCCCTTCGTGAGGTGTTT||||||||||||||||||||||||||137|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471130|NM_001146181.1|NP_001139653.1|HGNC:29295|heterogeneous_%20_nuclear_%20_ribonucleoprotein_%20_C-like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HNRPCL1||||1p36.21|2014-11-19|2008-04-18||BC002696||343069|ENSG00000179172||NM_001013631|725|RNA_%20_binding_%20_motif_%20_containing|CCDS30591|OTTHUMG00000001931|343069||NM_001013631|O60812|ENSG00000179172|uc057cki.1|HNRC1_HUMAN||B2RP44|O60812||nucleus_%20_(GO:0005634)_%7C_ribonucleoprotein_%20_complex_%20_(GO:0030529)|nucleotide_%20_binding_%20_(GO:0000166)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 12919041 exm17485 G A . PASS FUNCOTATION=[PRAMEF2|hg19|chr1|12919041|12919041|NONSENSE||SNP|G|G|A|g.chr1:12919041G>A|ENST00000240189.2|+|2|264|c.177G>A|c.(175-177)tgG>tgA|p.W59*|0.5760598503740648|TGCAGGCCTGGCCTTTCACCT||||||||||||||||||||||||||71|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_lung(3)_%7C_pancreas(22)|||||||BC075009|NM_023014.1|NP_075390.1|HGNC:28841|PRAME_%20_family_%20_member_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ43580||1p36.21|2015-09-10|||||65122|ENSG00000120952||NM_023014|686|PRAME_%20_family|CCDS149|OTTHUMG00000001986|65122||NM_023014|O60811|ENSG00000120952|uc001aum.1|PRAM2_HUMAN|||O60811|negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045596)_%7C_negative_%20_regulation_%20_of_%20_retinoic_%20_acid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048387)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 12919891 exm17546 G T . PASS FUNCOTATION=[PRAMEF2|hg19|chr1|12919891|12919891|NONSENSE||SNP|G|G|T|g.chr1:12919891G>T|ENST00000240189.2|+|3|718|c.631G>T|c.(631-633)Gaa>Taa|p.E211*|0.4164588528678304|TGGGGAGCTGGAAATTCACAA||||||||||||||||||||||||||71|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_lung(3)_%7C_pancreas(22)|||||||BC075009|NM_023014.1|NP_075390.1|HGNC:28841|PRAME_%20_family_%20_member_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ43580||1p36.21|2015-09-10|||||65122|ENSG00000120952||NM_023014|686|PRAME_%20_family|CCDS149|OTTHUMG00000001986|65122||NM_023014|O60811|ENSG00000120952|uc001aum.1|PRAM2_HUMAN|||O60811|negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045596)_%7C_negative_%20_regulation_%20_of_%20_retinoic_%20_acid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048387)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 13497777 indel.955 CT C . PASS FUNCOTATION=[PRAMEF16|hg19|chr1|13497778|13497778|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:13497778delT|ENST00000376121.3|+|3|1104|c.1075delT|c.(1075-1077)tgtfs|p.C359fs|0.5236907730673317|GTTAAAGGACTGTCAGATCCA||||||||||||||||||||||||||||||||||AL365443|NM_001045480.1|NP_001038945.1||||||||||||||||||||||||||||||PRA16_HUMAN|||Q5VWM1|negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045596)_%7C_negative_%20_regulation_%20_of_%20_retinoic_%20_acid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048387)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 13801621 rs12043808 A C . PASS FUNCOTATION=[LRRC38|hg19|chr1|13801621|13801621|THREE_PRIME_UTR||SNP|A|A|C|g.chr1:13801621A>C|ENST00000376085.3|-|2|||||0.4713216957605985|GCCACCTTTCATGAGGGCACT||||||||||||||||||||||||||||||||||CH471167|NM_001010847.1|NP_001010847.1|HGNC:27005|leucine_%20_rich_%20_repeat_%20_containing_%20_38|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.21|2015-04-07|||BC016048||126755|ENSG00000162494|22547800||||CCDS53269|OTTHUMG00000007918|126755|615212|NM_001010847|Q5VT99|ENSG00000162494|uc001avb.4|LRC38_HUMAN||Q96B32|Q5VT99|ion_%20_transport_%20_(GO:0006811)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 13840410 psy_rs192577419 T G . PASS FUNCOTATION=[LRRC38|hg19|chr1|13840410|13840410|FIVE_PRIME_UTR||SNP|T|T|G|g.chr1:13840410T>G|ENST00000376085.3|-|1|||||0.6957605985037406|CGAGTGGCCGTCGCCAAAACG|RP4-597A16.2_ENST00000563570.1_RNA|||||||||||||||||||||||||||||||||CH471167|NM_001010847.1|NP_001010847.1|HGNC:27005|leucine_%20_rich_%20_repeat_%20_containing_%20_38|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.21|2015-04-07|||BC016048||126755|ENSG00000162494|22547800||||CCDS53269|OTTHUMG00000007918|126755|615212|NM_001010847|Q5VT99|ENSG00000162494|uc001avb.4|LRC38_HUMAN||Q96B32|Q5VT99|ion_%20_transport_%20_(GO:0006811)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 13842586 exm2264988 A G . PASS FUNCOTATION=[LRRC38|hg19|chr1|13842586|13842586|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:13842586A>G|ENST00000376085.3|-||||||0.3915211970074813|TAACAAACCTATTGAGAAATA|RP4-597A16.2_ENST00000563570.1_RNA|||||||||||||||||||||||||||||||||CH471167|NM_001010847.1|NP_001010847.1|HGNC:27005|leucine_%20_rich_%20_repeat_%20_containing_%20_38|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.21|2015-04-07|||BC016048||126755|ENSG00000162494|22547800||||CCDS53269|OTTHUMG00000007918|126755|615212|NM_001010847|Q5VT99|ENSG00000162494|uc001avb.4|LRC38_HUMAN||Q96B32|Q5VT99|ion_%20_transport_%20_(GO:0006811)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 13842679 psy_rs442493 G A . PASS FUNCOTATION=[LRRC38|hg19|chr1|13842679|13842679|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:13842679G>A|ENST00000376085.3|-||||||0.40399002493765584|CGTGAGGGCCGCATGGGGAAG|RP4-597A16.2_ENST00000563570.1_RNA|||||||||||||||||||||||||||||||||CH471167|NM_001010847.1|NP_001010847.1|HGNC:27005|leucine_%20_rich_%20_repeat_%20_containing_%20_38|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.21|2015-04-07|||BC016048||126755|ENSG00000162494|22547800||||CCDS53269|OTTHUMG00000007918|126755|615212|NM_001010847|Q5VT99|ENSG00000162494|uc001avb.4|LRC38_HUMAN||Q96B32|Q5VT99|ion_%20_transport_%20_(GO:0006811)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 13940884 variant.964 C T . PASS FUNCOTATION=[PDPN|hg19|chr1|13940884|13940884|NONSENSE||SNP|C|C|T|g.chr1:13940884C>T|ENST00000509009.1|+|5|489|c.445C>T|c.(445-447)Cga>Tga|p.R149*|0.4389027431421446|TGTGGTTATGCGAAAAATGTC|PDPN_ENST00000294489.6_NONSENSE_p.R230*/PDPN_ENST00000376057.4_NONSENSE_p.R230*/PDPN_ENST00000376061.4_NONSENSE_p.R112*/PDPN_ENST00000513143.1_NONSENSE_p.R112*/PDPN_ENST00000475043.1_NONSENSE_p.R112*/PDPN_ENST00000487038.1_NONSENSE_p.R112*|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(2)|||||||AL359771|||HGNC:29602|podoplanin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||T1A-2_%2C__%20_Gp38_%2C__%20_aggrus_%2C__%20_GP40_%2C__%20_PA2.26|"lung_%20_type_%20_I_%20_cell_%20_membrane_%20_associated_%20_glycoprotein"|1p36.21|2014-11-19|||AB127958_%2C__%20_AY194238||10630|ENSG00000162493|10393083_%2C__%20_9651190|NM_006474|||CCDS30602_%2C__%20_CCDS41266_%2C__%20_CCDS44060_%2C__%20_CCDS53270|OTTHUMG00000007912|10630|608863|NM_001006624|Q86YL7|ENSG00000162493|uc001avd.4|||||||||||true|false||false|false|||false|false|false|PDPN:10630|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|370056113|13940884|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000605040402000100|1|false|138|rs370056113|] -chr1 14032007 rs2495060 G A . PASS FUNCOTATION=[PRDM2|hg19|chr1|14032007|14032007|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:14032007G>A|ENST00000235372.7|+|1|||||0.4688279301745636|ATCCTGCACCGTCTACCCTTC|PRDM2_ENST00000376048.5_INTRON/PRDM2_ENST00000311066.5_FIVE_PRIME_UTR|||||||||||||||||||||||||131|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_oesophagus(4)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_soft_tissue(11)_%7C_upper_aerodigestive_tract(1)|||||||U23736|NM_012231.4|NP_036363.2|HGNC:9347|PR/SET_%20_domain_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_2_%2C__%20_with_%20_ZNF_%20_domain"_%2C__%20_"PR_%20_domain_%20_2"|RIZ_%2C__%20_RIZ1_%2C__%20_RIZ2_%2C__%20_KMT8_%2C__%20_MTB-ZF_%2C__%20_HUMHOXY1_%2C__%20_KMT8A|"retinoblastoma_%20_protein-binding_%20_zinc_%20_finger_%20_protein"_%2C__%20_"retinoblastoma_%20_protein-interacting_%20_zinc_%20_finger_%20_protein"_%2C__%20_"MTE-binding_%20_protein"_%2C__%20_"zinc-finger_%20_DNA-binding_%20_protein"_%2C__%20_"GATA-3_%20_binding_%20_protein_%20_G3B"|1p36.21|2016-11-03||2016-07-18|U17838||7799|ENSG00000116731|7538672|NM_012231|487_%7C_1197|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family|CCDS150_%2C__%20_CCDS151_%2C__%20_CCDS30603_%2C__%20_CCDS44061|OTTHUMG00000007917|7799|601196|NM_001007257|Q13029|ENSG00000116731|uc001avi.3|PRDM2_HUMAN||B1AJZ4_%7C_B5MC68_%7C_Q13149_%7C_Q14550_%7C_Q5THJ1_%7C_Q5VUL9|Q13029|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_histone-lysine_%20_N-methyltransferase_%20_activity_%20_(GO:0018024)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.9439_%2C_0.05611|false|false|1||false|true|false|PRDM2:7799|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2495060|14032007|true|false|0|true|0|false|0.91349_%2C_0.0865101|false|false|true|SNV|true|0x050100480005150537000100|1|false|100|rs2495060|] -chr1 14059374 exm18628 G A . PASS FUNCOTATION=[PRDM2|hg19|chr1|14059374|14059374|NONSENSE||SNP|G|G|A|g.chr1:14059374G>A|ENST00000235372.7|+|4|1084|c.228G>A|c.(226-228)tgG>tgA|p.W76*|0.2743142144638404|TATACATGTGGGAGGTAAGAA|PRDM2_ENST00000376048.5_NONSENSE_p.W76*/PRDM2_ENST00000311066.5_NONSENSE_p.W76*|||||||||||||||||||||||||131|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_oesophagus(4)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_soft_tissue(11)_%7C_upper_aerodigestive_tract(1)|||||||U23736|NM_012231.4|NP_036363.2|HGNC:9347|PR/SET_%20_domain_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_2_%2C__%20_with_%20_ZNF_%20_domain"_%2C__%20_"PR_%20_domain_%20_2"|RIZ_%2C__%20_RIZ1_%2C__%20_RIZ2_%2C__%20_KMT8_%2C__%20_MTB-ZF_%2C__%20_HUMHOXY1_%2C__%20_KMT8A|"retinoblastoma_%20_protein-binding_%20_zinc_%20_finger_%20_protein"_%2C__%20_"retinoblastoma_%20_protein-interacting_%20_zinc_%20_finger_%20_protein"_%2C__%20_"MTE-binding_%20_protein"_%2C__%20_"zinc-finger_%20_DNA-binding_%20_protein"_%2C__%20_"GATA-3_%20_binding_%20_protein_%20_G3B"|1p36.21|2016-11-03||2016-07-18|U17838||7799|ENSG00000116731|7538672|NM_012231|487_%7C_1197|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family|CCDS150_%2C__%20_CCDS151_%2C__%20_CCDS30603_%2C__%20_CCDS44061|OTTHUMG00000007917|7799|601196|NM_001007257|Q13029|ENSG00000116731|uc001avi.3|PRDM2_HUMAN||B1AJZ4_%7C_B5MC68_%7C_Q13149_%7C_Q14550_%7C_Q5THJ1_%7C_Q5VUL9|Q13029|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_histone-lysine_%20_N-methyltransferase_%20_activity_%20_(GO:0018024)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|PRDM2:7799|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|148256671|14059374|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000605040436000100|1|false|134|rs148256671|] -chr1 14149668 exm18873 T G . PASS FUNCOTATION=[PRDM2|hg19|chr1|14149668|14149668|THREE_PRIME_UTR||SNP|T|T|G|g.chr1:14149668T>G|ENST00000235372.7|+|10|||||0.5112219451371571|TGAAGTGACCTGGAATCAGTG|PRDM2_ENST00000376048.5_MISSENSE_p.W224G/PRDM2_ENST00000503842.1_MISSENSE_p.W60G/PRDM2_ENST00000505823.1_MISSENSE_p.W60G|||||||||||||||||||||||||131|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_oesophagus(4)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_soft_tissue(11)_%7C_upper_aerodigestive_tract(1)|||||||U23736|NM_012231.4|NP_036363.2|HGNC:9347|PR/SET_%20_domain_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_2_%2C__%20_with_%20_ZNF_%20_domain"_%2C__%20_"PR_%20_domain_%20_2"|RIZ_%2C__%20_RIZ1_%2C__%20_RIZ2_%2C__%20_KMT8_%2C__%20_MTB-ZF_%2C__%20_HUMHOXY1_%2C__%20_KMT8A|"retinoblastoma_%20_protein-binding_%20_zinc_%20_finger_%20_protein"_%2C__%20_"retinoblastoma_%20_protein-interacting_%20_zinc_%20_finger_%20_protein"_%2C__%20_"MTE-binding_%20_protein"_%2C__%20_"zinc-finger_%20_DNA-binding_%20_protein"_%2C__%20_"GATA-3_%20_binding_%20_protein_%20_G3B"|1p36.21|2016-11-03||2016-07-18|U17838||7799|ENSG00000116731|7538672|NM_012231|487_%7C_1197|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family|CCDS150_%2C__%20_CCDS151_%2C__%20_CCDS30603_%2C__%20_CCDS44061|OTTHUMG00000007917|7799|601196|NM_001007257|Q13029|ENSG00000116731|uc001avi.3|PRDM2_HUMAN||B1AJZ4_%7C_B5MC68_%7C_Q13149_%7C_Q14550_%7C_Q5THJ1_%7C_Q5VUL9|Q13029|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_histone-lysine_%20_N-methyltransferase_%20_activity_%20_(GO:0018024)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.9964_%2C_0.003594|false|false|1||false|false|false|PRDM2:7799|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|77717345|14149668|false|false|0|true|0|false|0.997287_%2C_0.0027131|false|true|false|SNV|true|0x050100800a05040436000100|1|false|131|rs77717345|] -chr1 14149672 exm18874 A G . PASS FUNCOTATION=[PRDM2|hg19|chr1|14149672|14149672|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:14149672A>G|ENST00000235372.7|+|10|||||0.513715710723192|GTGACCTGGAATCAGTGAAGC|PRDM2_ENST00000376048.5_MISSENSE_p.N225S/PRDM2_ENST00000503842.1_MISSENSE_p.N61S/PRDM2_ENST00000505823.1_MISSENSE_p.N61S|||||||||||||||||||||||||131|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_oesophagus(4)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_soft_tissue(11)_%7C_upper_aerodigestive_tract(1)|||||||U23736|NM_012231.4|NP_036363.2|HGNC:9347|PR/SET_%20_domain_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_2_%2C__%20_with_%20_ZNF_%20_domain"_%2C__%20_"PR_%20_domain_%20_2"|RIZ_%2C__%20_RIZ1_%2C__%20_RIZ2_%2C__%20_KMT8_%2C__%20_MTB-ZF_%2C__%20_HUMHOXY1_%2C__%20_KMT8A|"retinoblastoma_%20_protein-binding_%20_zinc_%20_finger_%20_protein"_%2C__%20_"retinoblastoma_%20_protein-interacting_%20_zinc_%20_finger_%20_protein"_%2C__%20_"MTE-binding_%20_protein"_%2C__%20_"zinc-finger_%20_DNA-binding_%20_protein"_%2C__%20_"GATA-3_%20_binding_%20_protein_%20_G3B"|1p36.21|2016-11-03||2016-07-18|U17838||7799|ENSG00000116731|7538672|NM_012231|487_%7C_1197|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family|CCDS150_%2C__%20_CCDS151_%2C__%20_CCDS30603_%2C__%20_CCDS44061|OTTHUMG00000007917|7799|601196|NM_001007257|Q13029|ENSG00000116731|uc001avi.3|PRDM2_HUMAN||B1AJZ4_%7C_B5MC68_%7C_Q13149_%7C_Q14550_%7C_Q5THJ1_%7C_Q5VUL9|Q13029|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_histone-lysine_%20_N-methyltransferase_%20_activity_%20_(GO:0018024)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|PRDM2:7799|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|202013308|14149672|false|false|0|false|0|false|0.999244_%2C_0.000755546|false|true|false|SNV|true|0x050000800a05040426000100|1|false|137|rs202013308|] -chr1 14150709 rs2697964 C T . PASS FUNCOTATION=[PRDM2|hg19|chr1|14150709|14150709|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:14150709C>T|ENST00000235372.7|+|10|||||0.4937655860349127|TGGGGCAGACCCCAGGCAAGG|PRDM2_ENST00000376048.5_THREE_PRIME_UTR|||||||||||||||||||||||||131|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_oesophagus(4)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_soft_tissue(11)_%7C_upper_aerodigestive_tract(1)|||||||U23736|NM_012231.4|NP_036363.2|HGNC:9347|PR/SET_%20_domain_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_2_%2C__%20_with_%20_ZNF_%20_domain"_%2C__%20_"PR_%20_domain_%20_2"|RIZ_%2C__%20_RIZ1_%2C__%20_RIZ2_%2C__%20_KMT8_%2C__%20_MTB-ZF_%2C__%20_HUMHOXY1_%2C__%20_KMT8A|"retinoblastoma_%20_protein-binding_%20_zinc_%20_finger_%20_protein"_%2C__%20_"retinoblastoma_%20_protein-interacting_%20_zinc_%20_finger_%20_protein"_%2C__%20_"MTE-binding_%20_protein"_%2C__%20_"zinc-finger_%20_DNA-binding_%20_protein"_%2C__%20_"GATA-3_%20_binding_%20_protein_%20_G3B"|1p36.21|2016-11-03||2016-07-18|U17838||7799|ENSG00000116731|7538672|NM_012231|487_%7C_1197|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family|CCDS150_%2C__%20_CCDS151_%2C__%20_CCDS30603_%2C__%20_CCDS44061|OTTHUMG00000007917|7799|601196|NM_001007257|Q13029|ENSG00000116731|uc001avi.3|PRDM2_HUMAN||B1AJZ4_%7C_B5MC68_%7C_Q13149_%7C_Q14550_%7C_Q5THJ1_%7C_Q5VUL9|Q13029|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_histone-lysine_%20_N-methyltransferase_%20_activity_%20_(GO:0018024)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.1807_%2C_0.8193|false|false|1||false|true|true|PRDM2:7799|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2697964|14150709|true|false|0|true|0|false|0.152929_%2C_0.847071|false|true|false|SNV|true|0x05010080000517053f000100|1|false|100|rs2697964|] -chr1 14151506 rs2903 C T . PASS FUNCOTATION=[PRDM2|hg19|chr1|14151506|14151506|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:14151506C>T|ENST00000235372.7|+|10|||||0.516209476309227|GTCTTCAAGACGACAGCTCTG|PRDM2_ENST00000376048.5_THREE_PRIME_UTR|||||||||||||||||||||||||131|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_oesophagus(4)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_soft_tissue(11)_%7C_upper_aerodigestive_tract(1)|||||||U23736|NM_012231.4|NP_036363.2|HGNC:9347|PR/SET_%20_domain_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_2_%2C__%20_with_%20_ZNF_%20_domain"_%2C__%20_"PR_%20_domain_%20_2"|RIZ_%2C__%20_RIZ1_%2C__%20_RIZ2_%2C__%20_KMT8_%2C__%20_MTB-ZF_%2C__%20_HUMHOXY1_%2C__%20_KMT8A|"retinoblastoma_%20_protein-binding_%20_zinc_%20_finger_%20_protein"_%2C__%20_"retinoblastoma_%20_protein-interacting_%20_zinc_%20_finger_%20_protein"_%2C__%20_"MTE-binding_%20_protein"_%2C__%20_"zinc-finger_%20_DNA-binding_%20_protein"_%2C__%20_"GATA-3_%20_binding_%20_protein_%20_G3B"|1p36.21|2016-11-03||2016-07-18|U17838||7799|ENSG00000116731|7538672|NM_012231|487_%7C_1197|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family|CCDS150_%2C__%20_CCDS151_%2C__%20_CCDS30603_%2C__%20_CCDS44061|OTTHUMG00000007917|7799|601196|NM_001007257|Q13029|ENSG00000116731|uc001avi.3|PRDM2_HUMAN||B1AJZ4_%7C_B5MC68_%7C_Q13149_%7C_Q14550_%7C_Q5THJ1_%7C_Q5VUL9|Q13029|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_histone-lysine_%20_N-methyltransferase_%20_activity_%20_(GO:0018024)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.9583_%2C_0.04173|false|false|1||false|true|false|PRDM2:7799|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2903|14151506|true|false|0|true|0|false|0.950065_%2C_0.0499347|false|true|false|SNV|true|0x05010080000515053f000100|1|false|36|rs2903|] -chr1 14676909 rs7355173 C T . PASS FUNCOTATION=[RP4-704D23.1|hg19|chr1|14676909|14676909|LINCRNA||SNP|C|C|T|g.chr1:14676909C>T|ENST00000447908.1|-|||c.e1-455G>A|||0.46384039900249374|AGCCTGGTTCCTCATTATGGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15442058 rs2235789 T C . PASS FUNCOTATION=[KAZN|hg19|chr1|15442058|15442058|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:15442058T>C|ENST00000376030.2|+|15|||||0.5012468827930174|ATGCTTGACATTGTTAACCCA||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471167|NM_201628.2|NP_963922.2|HGNC:29173|kazrin_%2C__%20_periplakin_%20_interacting_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA1026_%2C__%20_KAZRIN_%2C__%20_FLJ43806||1p36.21|2014-11-19||2011-01-31|AY505119||23254|ENSG00000189337|15337775_%2C__%20_18840647|NM_001017999|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS30604_%2C__%20_CCDS41267_%2C__%20_CCDS152_%2C__%20_CCDS41268|OTTHUMG00000002042|23254||NM_001017999|Q674X7|ENSG00000189337|uc001avm.5|KAZRN_HUMAN||B0QYQ0_%7C_B1AK78_%7C_Q5TGF1_%7C_Q674X4_%7C_Q674X6_%7C_Q6ZUD1_%7C_Q8IYN7_%7C_Q8N409_%7C_Q9UIL2_%7C_Q9UPX4|Q674X7|keratinization_%20_(GO:0031424)|cornified_%20_envelope_%20_(GO:0001533)_%7C_cytoplasm_%20_(GO:0005737)_%7C_desmosome_%20_(GO:0030057)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15444288 rs2235784 C T . PASS FUNCOTATION=[KAZN|hg19|chr1|15444288|15444288|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:15444288C>T|ENST00000376030.2|+|15|||||0.5760598503740648|TTCGAGGCTCCGGAGGGCTCT|TMEM51-AS1_ENST00000310916.3_RNA|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471167|NM_201628.2|NP_963922.2|HGNC:29173|kazrin_%2C__%20_periplakin_%20_interacting_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA1026_%2C__%20_KAZRIN_%2C__%20_FLJ43806||1p36.21|2014-11-19||2011-01-31|AY505119||23254|ENSG00000189337|15337775_%2C__%20_18840647|NM_001017999|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS30604_%2C__%20_CCDS41267_%2C__%20_CCDS152_%2C__%20_CCDS41268|OTTHUMG00000002042|23254||NM_001017999|Q674X7|ENSG00000189337|uc001avm.5|KAZRN_HUMAN||B0QYQ0_%7C_B1AK78_%7C_Q5TGF1_%7C_Q674X4_%7C_Q674X6_%7C_Q6ZUD1_%7C_Q8IYN7_%7C_Q8N409_%7C_Q9UIL2_%7C_Q9UPX4|Q674X7|keratinization_%20_(GO:0031424)|cornified_%20_envelope_%20_(GO:0001533)_%7C_cytoplasm_%20_(GO:0005737)_%7C_desmosome_%20_(GO:0030057)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15446168 rs13375820 G A . PASS FUNCOTATION=[TMEM51-AS1|hg19|chr1|15446168|15446168|RNA||SNP|G|G|A|g.chr1:15446168G>A|ENST00000310916.3|-|||c.e5+768C>T|||0.5311720698254364|CCAGCCAACTGTAGTAAGTCT|||||||||||||||||||||||||||||||||||||HGNC:26301|TMEM51_%20_antisense_%20_RNA_%20_1|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|C1orf126|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_126"|FLJ23703||1p36.21|2014-11-18|2013-12-05|2013-12-05|AK074283||200197|ENSG00000175147||NR_027136||||OTTHUMG00000002043|200197||NR_027136||ENSG00000175147|uc009voh.3|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15466832 rs2206761 C T . PASS FUNCOTATION=[TMEM51-AS1|hg19|chr1|15466832|15466832|RNA||SNP|C|C|T|g.chr1:15466832C>T|ENST00000310916.3|-|||c.e1-11955G>A|||0.5486284289276808|GCTGGCTGGACTCTCCTGCTG|||||||||||||||||||||||||||||||||||||HGNC:26301|TMEM51_%20_antisense_%20_RNA_%20_1|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|C1orf126|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_126"|FLJ23703||1p36.21|2014-11-18|2013-12-05|2013-12-05|AK074283||200197|ENSG00000175147||NR_027136||||OTTHUMG00000002043|200197||NR_027136||ENSG00000175147|uc009voh.3|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15467263 rs6429711 C T . PASS FUNCOTATION=[TMEM51-AS1|hg19|chr1|15467263|15467263|RNA||SNP|C|C|T|g.chr1:15467263C>T|ENST00000310916.3|-|||c.e1-11524G>A|||0.4837905236907731|GGAAGAAAGACGATGAGGGTG|||||||||||||||||||||||||||||||||||||HGNC:26301|TMEM51_%20_antisense_%20_RNA_%20_1|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|C1orf126|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_126"|FLJ23703||1p36.21|2014-11-18|2013-12-05|2013-12-05|AK074283||200197|ENSG00000175147||NR_027136||||OTTHUMG00000002043|200197||NR_027136||ENSG00000175147|uc009voh.3|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15471992 rs761301 T G . PASS FUNCOTATION=[TMEM51-AS1|hg19|chr1|15471992|15471992|RNA||SNP|T|T|G|g.chr1:15471992T>G|ENST00000310916.3|-|||c.e1-6795A>C|||0.4763092269326683|CACTCTAATCTAAAGATCTCA|||||||||||||||||||||||||||||||||||||HGNC:26301|TMEM51_%20_antisense_%20_RNA_%20_1|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|C1orf126|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_126"|FLJ23703||1p36.21|2014-11-18|2013-12-05|2013-12-05|AK074283||200197|ENSG00000175147||NR_027136||||OTTHUMG00000002043|200197||NR_027136||ENSG00000175147|uc009voh.3|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15477865 rs1883761 G A . PASS FUNCOTATION=[TMEM51|hg19|chr1|15477865|15477865|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:15477865G>A|ENST00000376008.2|+||||||0.4713216957605985|ATAAGGAGAGGCATGCTTCCT|TMEM51_ENST00000376014.3_FIVE_PRIME_FLANK/TMEM51_ENST00000400796.3_FIVE_PRIME_FLANK/TMEM51_ENST00000428417.1_FIVE_PRIME_FLANK/TMEM51_ENST00000434578.2_FIVE_PRIME_FLANK/TMEM51-AS1_ENST00000310916.3_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR457120|||HGNC:25488|transmembrane_%20_protein_%20_51|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf72|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_72"|FLJ10199||1p36.21|2014-11-18|2005-05-22|2005-05-22|AK098467||55092|ENSG00000171729|12477932|NM_018022|||CCDS154_%2C__%20_CCDS81266|OTTHUMG00000002046|55092||NM_001136216|Q9NW97|ENSG00000171729|uc010obk.3|TMM51_HUMAN||A8K819|Q9NW97||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15546761 exm2249987 G A . PASS FUNCOTATION=[TMEM51|hg19|chr1|15546761|15546761|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:15546761G>A|ENST00000428417.1|+|3|||||0.4139650872817955|GGCGGCTCTCGCAGAGCCCCT|TMEM51_ENST00000376008.2_THREE_PRIME_UTR/TMEM51_ENST00000376014.3_THREE_PRIME_UTR/TMEM51_ENST00000400796.3_THREE_PRIME_UTR/TMEM51_ENST00000434578.2_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR457120|NM_001136217.1|NP_001129689.1|HGNC:25488|transmembrane_%20_protein_%20_51|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf72|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_72"|FLJ10199||1p36.21|2014-11-18|2005-05-22|2005-05-22|AK098467||55092|ENSG00000171729|12477932|NM_018022|||CCDS154_%2C__%20_CCDS81266|OTTHUMG00000002046|55092||NM_001136216|Q9NW97|ENSG00000171729|uc010obk.3|TMM51_HUMAN||A8K819|Q9NW97||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15701094 variant.986 C T . PASS FUNCOTATION=[FHAD1|hg19|chr1|15701094|15701094|NONSENSE||SNP|C|C|T|g.chr1:15701094C>T|ENST00000375998.4|+|25|3478|c.3478C>T|c.(3478-3480)Cga>Tga|p.R1160*|0.4937655860349127|ACTTCGAGCGCGAATTAAAGA|FHAD1_ENST00000358897.4_NONSENSE_p.R1160*/FHAD1_ENST00000417793.1_NONSENSE_p.R1124*/FHAD1_ENST00000375999.3_NONSENSE_p.R1160*/FHAD1_ENST00000314740.8_NONSENSE_p.R413*/FHAD1_ENST00000471347.1_INTRON|||||||||||||||||||||||||69|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||AL391094|||HGNC:29408|forkhead_%20_associated_%20_phosphopeptide_%20_binding_%20_domain_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"forkhead-associated_%20_(FHA)_%20_phosphopeptide_%20_binding_%20_domain_%20_1"|KIAA1937||1p36.21|2016-06-21||2016-06-21|AK093300||114827|ENSG00000142621|11572484|NM_052929||||OTTHUMG00000002088|114827||NM_052929|B1AJZ9|ENSG00000142621|uc001awb.2|FHAD1_HUMAN||Q0P6F5_%7C_Q8N8D3_%7C_Q8N9T6_%7C_Q8NA05|B1AJZ9|||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|FHAD1:114827|false|true|false|false|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|367730091|15701094|false|false|0|false|0|false|0.999141_%2C_0.000858575|false|false|false|SNV|true|0x050000000605040426000100|1|false|138|rs367730091|] -chr1 15732793 rs733887 A G . PASS FUNCOTATION=[EFHD2|hg19|chr1|15732793|15732793|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:15732793A>G|ENST00000375980.4|+||||||0.486284289276808|TAAAGGATCAATCGTCTTGGT|RP3-467K16.4_ENST00000427824.1_LINCRNA|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471167|NM_024329.5|NP_077305.2|HGNC:28670|EF-hand_%20_domain_%20_family_%20_member_%20_D2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"EF_%20_hand_%20_domain_%20_containing_%20_2"|MGC4342|"swiprosin-1"|1p36.21|2016-10-05||2015-11-05|BC014923||79180|ENSG00000142634|21244694|NM_024329|863|EF-hand_%20_domain_%20_containing|CCDS155|OTTHUMG00000002254|79180|616450|NM_024329|Q96C19|ENSG00000142634|uc001awh.2|EFHD2_HUMAN||Q5JYW9|Q96C19||membrane_%20_(GO:0016020)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15733394 rs2092324 G A . PASS FUNCOTATION=[EFHD2|hg19|chr1|15733394|15733394|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:15733394G>A|ENST00000375980.4|+||||||0.5187032418952618|CAATTGCCCCGGATGAATATT|RP3-467K16.4_ENST00000427824.1_LINCRNA|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471167|NM_024329.5|NP_077305.2|HGNC:28670|EF-hand_%20_domain_%20_family_%20_member_%20_D2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"EF_%20_hand_%20_domain_%20_containing_%20_2"|MGC4342|"swiprosin-1"|1p36.21|2016-10-05||2015-11-05|BC014923||79180|ENSG00000142634|21244694|NM_024329|863|EF-hand_%20_domain_%20_containing|CCDS155|OTTHUMG00000002254|79180|616450|NM_024329|Q96C19|ENSG00000142634|uc001awh.2|EFHD2_HUMAN||Q5JYW9|Q96C19||membrane_%20_(GO:0016020)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15767020 exm19262 G A . PASS FUNCOTATION=[CTRC|hg19|chr1|15767020|15767020|NONSENSE||SNP|G|G|A|g.chr1:15767020G>A|ENST00000375949.4|+|3|190|c.164G>A|c.(163-165)tGg>tAg|p.W55*|0.6109725685785536|AACGACACGTGGAGGCATACG|CTRC_ENST00000375943.2_INTRON/CTRC_ENST00000483406.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Y13697|NM_007272.2|NP_009203.2|HGNC:2523|chymotrypsin_%20_C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"chymotrypsin_%20_C_%20_(caldecrin)"|CLCR_%2C__%20_ELA4|"elastase_%20_4"_%2C__%20_"caldecrin"|1p36.21|2015-11-30||2015-11-30|BC015118|3.4.21.2|11330|ENSG00000162438|8635596|NM_007272|||CCDS156|OTTHUMG00000002255|11330|601405|NM_007272|Q99895|ENSG00000162438|uc001awi.2|CTRC_HUMAN||A8K082_%7C_O00765_%7C_Q9NUH5|Q99895|proteolysis_%20_(GO:0006508)||peptidase_%20_activity_%20_(GO:0008233)_%7C_serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15813922 exm19463 G A . PASS FUNCOTATION=[CELA2B|hg19|chr1|15813922|15813922|NONSENSE||SNP|G|G|A|g.chr1:15813922G>A|ENST00000375910.3|+|7|807|c.782G>A|c.(781-783)tGg>tAg|p.W261*|0.5935162094763092|TACAACGACTGGATCAATTCG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M16653|NM_015849.2|NP_056933.2|HGNC:29995|chymotrypsin_%20_like_%20_elastase_%20_family_%20_member_%20_2B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"chymotrypsin-like_%20_elastase_%20_family_%2C__%20_member_%20_2B"|RP11-265F14.2_%2C__%20_ELA2B|"pancreatic_%20_elastase_%20_IIB"|1p36.21|2015-11-17||2015-11-17|||51032|ENSG00000215704|3646943_%2C__%20_16327289|NM_015849|||CCDS30605|OTTHUMG00000002259|51032|609444|NM_015849|P08218|ENSG00000215704|uc001awl.3|CEL2B_HUMAN||Q14D16_%7C_Q6ISM5_%7C_Q96QV5|P08218||extracellular_%20_region_%20_(GO:0005576)|serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15844653 exm19536 C A . PASS FUNCOTATION=[CASP9|hg19|chr1|15844653|15844653|NONSENSE||SNP|C|C|A|g.chr1:15844653C>A|ENST00000333868.5|-|2|465|c.370G>T|c.(370-372)Gaa>Taa|p.E124*|0.486284289276808|CTGGGTGTTTCCGGTCTGAGA|CASP9_ENST00000546424.1_NONSENSE_p.E124*/CASP9_ENST00000348549.5_NONSENSE_p.E124*/CASP9_ENST00000375890.4_NONSENSE_p.E41*/CASP9_ENST00000469637.1_INTRON|||||||||||||||||||||||||703|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||U60521|||HGNC:1511|caspase_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"caspase_%20_9_%2C__%20_apoptosis-related_%20_cysteine_%20_protease"_%2C__%20_"caspase_%20_9_%2C__%20_apoptosis-related_%20_cysteine_%20_peptidase"|MCH6_%2C__%20_ICE-LAP6_%2C__%20_APAF-3_%2C__%20_PPP1R56|"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_56"|1p36.21|2016-04-25||2015-11-12|U60521|3.4.22.62|842|ENSG00000132906|8663294_%2C__%20_9390557|NM_032996|959_%7C_694_%7C_468_%7C_1341|Caspase_%20_recruitment_%20_domain_%20_containing_%7C_Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits_%7C_Caspases_%7C_Apoptosome|CCDS158_%2C__%20_CCDS159_%2C__%20_CCDS59995|OTTHUMG00000002256|842|602234|NM_001229|P55211|ENSG00000132906|uc001awn.5|CASP9_HUMAN||B4E1A3_%7C_O95348_%7C_Q53Y70_%7C_Q5JRU9_%7C_Q5UGI1_%7C_Q92852_%7C_Q9BQ62_%7C_Q9UEQ3_%7C_Q9UIJ8|P55211|activation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_by_%20_cytochrome_%20_c_%20_(GO:0008635)_%7C_aging_%20_(GO:0007568)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_dexamethasone_%20_stimulus_%20_(GO:0071549)_%7C_cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glial_%20_cell_%20_apoptotic_%20_process_%20_(GO:0034349)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097193)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_(GO:0008630)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_platelet_%20_formation_%20_(GO:0030220)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_regulation_%20_of_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:2001020)_%7C_response_%20_to_%20_antibiotic_%20_(GO:0046677)_%7C_response_%20_to_%20_cobalt_%20_ion_%20_(GO:0032025)_%7C_response_%20_to_%20_estradiol_%20_(GO:0032355)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)_%7C_signal_%20_transduction_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_(GO:0042770)|apoptosome_%20_(GO:0043293)_%7C_cytosol_%20_(GO:0005829)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|cysteine-type_%20_endopeptidase_%20_activity_%20_(GO:0004197)_%7C_enzyme_%20_activator_%20_activity_%20_(GO:0008047)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_SH3_%20_domain_%20_binding_%20_(GO:0017124)||||true|false||false|false|||false|false|false|CASP9:842|false|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|201216482|15844653|false|false|0|false|0|false||false|false|true|SNV|true|0x050000480605040402000100|1|false|137|rs201216482|] -chr1 15844755 exm19545 G A . PASS FUNCOTATION=[CASP9|hg19|chr1|15844755|15844755|NONSENSE||SNP|G|G|A|g.chr1:15844755G>A|ENST00000333868.5|-|2|363|c.268C>T|c.(268-270)Cga>Tga|p.R90*|0.513715710723192|CTGTTAGTTCGCAGAAACGAA|CASP9_ENST00000546424.1_NONSENSE_p.R90*/CASP9_ENST00000348549.5_NONSENSE_p.R90*/CASP9_ENST00000375890.4_NONSENSE_p.R7*/CASP9_ENST00000469637.1_INTRON|||||||||||||||||||||||||703|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||U60521|||HGNC:1511|caspase_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"caspase_%20_9_%2C__%20_apoptosis-related_%20_cysteine_%20_protease"_%2C__%20_"caspase_%20_9_%2C__%20_apoptosis-related_%20_cysteine_%20_peptidase"|MCH6_%2C__%20_ICE-LAP6_%2C__%20_APAF-3_%2C__%20_PPP1R56|"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_56"|1p36.21|2016-04-25||2015-11-12|U60521|3.4.22.62|842|ENSG00000132906|8663294_%2C__%20_9390557|NM_032996|959_%7C_694_%7C_468_%7C_1341|Caspase_%20_recruitment_%20_domain_%20_containing_%7C_Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits_%7C_Caspases_%7C_Apoptosome|CCDS158_%2C__%20_CCDS159_%2C__%20_CCDS59995|OTTHUMG00000002256|842|602234|NM_001229|P55211|ENSG00000132906|uc001awn.5|CASP9_HUMAN||B4E1A3_%7C_O95348_%7C_Q53Y70_%7C_Q5JRU9_%7C_Q5UGI1_%7C_Q92852_%7C_Q9BQ62_%7C_Q9UEQ3_%7C_Q9UIJ8|P55211|activation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_by_%20_cytochrome_%20_c_%20_(GO:0008635)_%7C_aging_%20_(GO:0007568)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_dexamethasone_%20_stimulus_%20_(GO:0071549)_%7C_cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glial_%20_cell_%20_apoptotic_%20_process_%20_(GO:0034349)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097193)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_(GO:0008630)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_platelet_%20_formation_%20_(GO:0030220)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_regulation_%20_of_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:2001020)_%7C_response_%20_to_%20_antibiotic_%20_(GO:0046677)_%7C_response_%20_to_%20_cobalt_%20_ion_%20_(GO:0032025)_%7C_response_%20_to_%20_estradiol_%20_(GO:0032355)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)_%7C_signal_%20_transduction_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_(GO:0042770)|apoptosome_%20_(GO:0043293)_%7C_cytosol_%20_(GO:0005829)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|cysteine-type_%20_endopeptidase_%20_activity_%20_(GO:0004197)_%7C_enzyme_%20_activator_%20_activity_%20_(GO:0008047)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_SH3_%20_domain_%20_binding_%20_(GO:0017124)||||true|false||false|false|||false|false|false|CASP9:842|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|144884967|15844755|false|false|0|false|0|false||false|false|true|SNV|true|0x050000400605040402000100|1|false|134|rs144884967|] -chr1 15863057 variant.1017 C T . PASS FUNCOTATION=[DNAJC16|hg19|chr1|15863057|15863057|NONSENSE||SNP|C|C|T|g.chr1:15863057C>T|ENST00000375847.3|+|4|486|c.322C>T|c.(322-324)Cga>Tga|p.R108*|0.3865336658354115|GCAACAGCAGCGAGAGTATCG|DNAJC16_ENST00000375849.1_NONSENSE_p.R108*/DNAJC16_ENST00000375838.1_NONSENSE_p.R108*|||||||||||||||||||||||||271|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR749567|NM_015291.2|NP_056106.1|HGNC:29157|DnaJ_%20_heat_%20_shock_%20_protein_%20_family_%20_(Hsp40)_%20_member_%20_C16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DnaJ_%20_(Hsp40)_%20_homolog_%2C__%20_subfamily_%20_C_%2C__%20_member_%20_16"|KIAA0962||1p36.21|2016-10-05||2015-11-19|AB023179||23341|ENSG00000116138||NM_015291|584|DNAJ_%20_(HSP40)_%20_heat_%20_shock_%20_proteins|CCDS30606_%2C__%20_CCDS72710|OTTHUMG00000002358|23341||NM_001287811|Q9Y2G8|ENSG00000116138|uc001aws.4|DJC16_HUMAN||Q68D57_%7C_Q86X32_%7C_Q8N5P4|Q9Y2G8|cell_%20_redox_%20_homeostasis_%20_(GO:0045454)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15886024 variant.1019 C T . PASS FUNCOTATION=[DNAJC16|hg19|chr1|15886024|15886024|NONSENSE||SNP|C|C|T|g.chr1:15886024C>T|ENST00000375847.3|+|8|1191|c.1027C>T|c.(1027-1029)Cga>Tga|p.R343*|0.4164588528678304|TCTCTAGGCCCGAGGTATGAA|DNAJC16_ENST00000375849.1_NONSENSE_p.R343*/DNAJC16_ENST00000375838.1_NONSENSE_p.R343*/DNAJC16_ENST00000483270.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||271|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR749567|NM_015291.2|NP_056106.1|HGNC:29157|DnaJ_%20_heat_%20_shock_%20_protein_%20_family_%20_(Hsp40)_%20_member_%20_C16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DnaJ_%20_(Hsp40)_%20_homolog_%2C__%20_subfamily_%20_C_%2C__%20_member_%20_16"|KIAA0962||1p36.21|2016-10-05||2015-11-19|AB023179||23341|ENSG00000116138||NM_015291|584|DNAJ_%20_(HSP40)_%20_heat_%20_shock_%20_proteins|CCDS30606_%2C__%20_CCDS72710|OTTHUMG00000002358|23341||NM_001287811|Q9Y2G8|ENSG00000116138|uc001aws.4|DJC16_HUMAN||Q68D57_%7C_Q86X32_%7C_Q8N5P4|Q9Y2G8|cell_%20_redox_%20_homeostasis_%20_(GO:0045454)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15886141 newrs148404423 C T . PASS FUNCOTATION=[DNAJC16|hg19|chr1|15886141|15886141|NONSENSE||SNP|C|C|T|g.chr1:15886141C>T|ENST00000375847.3|+|8|1308|c.1144C>T|c.(1144-1146)Cga>Tga|p.R382*|0.4488778054862843|ACGGTCGCATCGACAGAGGAA|DNAJC16_ENST00000375849.1_NONSENSE_p.R382*/DNAJC16_ENST00000375838.1_NONSENSE_p.R382*/DNAJC16_ENST00000483270.1_INTRON|||||||||||||||||||||||||271|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR749567|NM_015291.2|NP_056106.1|HGNC:29157|DnaJ_%20_heat_%20_shock_%20_protein_%20_family_%20_(Hsp40)_%20_member_%20_C16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DnaJ_%20_(Hsp40)_%20_homolog_%2C__%20_subfamily_%20_C_%2C__%20_member_%20_16"|KIAA0962||1p36.21|2016-10-05||2015-11-19|AB023179||23341|ENSG00000116138||NM_015291|584|DNAJ_%20_(HSP40)_%20_heat_%20_shock_%20_proteins|CCDS30606_%2C__%20_CCDS72710|OTTHUMG00000002358|23341||NM_001287811|Q9Y2G8|ENSG00000116138|uc001aws.4|DJC16_HUMAN||Q68D57_%7C_Q86X32_%7C_Q8N5P4|Q9Y2G8|cell_%20_redox_%20_homeostasis_%20_(GO:0045454)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15909881 indel.1029 AG A . PASS FUNCOTATION=[AGMAT|hg19|chr1|15909882|15909882|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:15909882delG|ENST00000375826.3|-|2|425|c.281delC|c.(280-282)cctfs|p.P94fs|0.5286783042394015|GATGCGGCGAGGTCCGAATCT|DNAJC16_ENST00000483270.1_INTRON|NSCLC(126_%3B_1678_%20_1780_%20_25805_%20_43508_%20_49531)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC005090|NM_024758.4|NP_079034.3|HGNC:18407|agmatinase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"agmatine_%20_ureohydrolase_%20_(agmatinase)"|FLJ23384||1p36.21|2016-10-05||2015-11-03|AY057097|3.5.3.11|79814|ENSG00000116771|11804860_%2C__%20_14648699_%2C__%20_11914032|NM_024758|||CCDS160|OTTHUMG00000002357|79814||NM_024758|Q9BSE5|ENSG00000116771|uc001awv.3|SPEB_HUMAN||Q5TDH1_%7C_Q9H5J3|Q9BSE5|agmatine_%20_biosynthetic_%20_process_%20_(GO:0097055)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_polyamine_%20_metabolic_%20_process_%20_(GO:0006595)_%7C_putrescine_%20_biosynthetic_%20_process_%20_from_%20_arginine_%20_(GO:0033388)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_spermidine_%20_biosynthetic_%20_process_%20_(GO:0008295)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)|agmatinase_%20_activity_%20_(GO:0008783)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15986922 newrs138928687 C T . PASS FUNCOTATION=[RSC1A1|hg19|chr1|15986922|15986922|NONSENSE||SNP|C|C|T|g.chr1:15986922C>T|ENST00000345034.1|+|1|559|c.559C>T|c.(559-561)Caa>Taa|p.Q187*|0.41895261845386533|TTCACATGACCAAGAATATCT|DDI2_ENST00000480945.1_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X82877|NM_006511.1|NP_006502.1|HGNC:10458|regulator_%20_of_%20_solute_%20_carriers_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"regulatory_%20_solute_%20_carrier_%20_protein_%2C__%20_family_%20_1_%2C__%20_member_%20_1"|RS1||1p36.21|2016-10-05||2016-09-29|BN000122_%2C__%20_X82877||6248|ENSG00000215695||NM_006511|||CCDS161|OTTHUMG00000067830|6248|601966|NM_006511|Q92681|ENSG00000215695|uc010obn.2|RSCA1_HUMAN||B2RBP5|Q92681|intestinal_%20_absorption_%20_(GO:0050892)_%7C_negative_%20_regulation_%20_of_%20_transport_%20_(GO:0051051)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transport_%20_(GO:0006810)|brush_%20_border_%20_(GO:0005903)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ion_%20_channel_%20_inhibitor_%20_activity_%20_(GO:0008200)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15987390 variant.1034 G T . PASS FUNCOTATION=[RSC1A1|hg19|chr1|15987390|15987390|NONSENSE||SNP|G|G|T|g.chr1:15987390G>T|ENST00000345034.1|+|1|1027|c.1027G>T|c.(1027-1029)Gag>Tag|p.E343*|0.4014962593516209|GCCTTCTGTGGAGTCAGCAGA|DDI2_ENST00000480945.1_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X82877|NM_006511.1|NP_006502.1|HGNC:10458|regulator_%20_of_%20_solute_%20_carriers_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"regulatory_%20_solute_%20_carrier_%20_protein_%2C__%20_family_%20_1_%2C__%20_member_%20_1"|RS1||1p36.21|2016-10-05||2016-09-29|BN000122_%2C__%20_X82877||6248|ENSG00000215695||NM_006511|||CCDS161|OTTHUMG00000067830|6248|601966|NM_006511|Q92681|ENSG00000215695|uc010obn.2|RSCA1_HUMAN||B2RBP5|Q92681|intestinal_%20_absorption_%20_(GO:0050892)_%7C_negative_%20_regulation_%20_of_%20_transport_%20_(GO:0051051)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transport_%20_(GO:0006810)|brush_%20_border_%20_(GO:0005903)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ion_%20_channel_%20_inhibitor_%20_activity_%20_(GO:0008200)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15987735 exm19842 G T . PASS FUNCOTATION=[RSC1A1|hg19|chr1|15987735|15987735|NONSENSE||SNP|G|G|T|g.chr1:15987735G>T|ENST00000345034.1|+|1|1372|c.1372G>T|c.(1372-1374)Gaa>Taa|p.E458*|0.40648379052369077|AACCGATAAGGAAGGTGTCCC|DDI2_ENST00000480945.1_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X82877|NM_006511.1|NP_006502.1|HGNC:10458|regulator_%20_of_%20_solute_%20_carriers_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"regulatory_%20_solute_%20_carrier_%20_protein_%2C__%20_family_%20_1_%2C__%20_member_%20_1"|RS1||1p36.21|2016-10-05||2016-09-29|BN000122_%2C__%20_X82877||6248|ENSG00000215695||NM_006511|||CCDS161|OTTHUMG00000067830|6248|601966|NM_006511|Q92681|ENSG00000215695|uc010obn.2|RSCA1_HUMAN||B2RBP5|Q92681|intestinal_%20_absorption_%20_(GO:0050892)_%7C_negative_%20_regulation_%20_of_%20_transport_%20_(GO:0051051)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transport_%20_(GO:0006810)|brush_%20_border_%20_(GO:0005903)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ion_%20_channel_%20_inhibitor_%20_activity_%20_(GO:0008200)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15987735 newrs137912259 G T . PASS FUNCOTATION=[RSC1A1|hg19|chr1|15987735|15987735|NONSENSE||SNP|G|G|T|g.chr1:15987735G>T|ENST00000345034.1|+|1|1372|c.1372G>T|c.(1372-1374)Gaa>Taa|p.E458*|0.40648379052369077|AACCGATAAGGAAGGTGTCCC|DDI2_ENST00000480945.1_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X82877|NM_006511.1|NP_006502.1|HGNC:10458|regulator_%20_of_%20_solute_%20_carriers_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"regulatory_%20_solute_%20_carrier_%20_protein_%2C__%20_family_%20_1_%2C__%20_member_%20_1"|RS1||1p36.21|2016-10-05||2016-09-29|BN000122_%2C__%20_X82877||6248|ENSG00000215695||NM_006511|||CCDS161|OTTHUMG00000067830|6248|601966|NM_006511|Q92681|ENSG00000215695|uc010obn.2|RSCA1_HUMAN||B2RBP5|Q92681|intestinal_%20_absorption_%20_(GO:0050892)_%7C_negative_%20_regulation_%20_of_%20_transport_%20_(GO:0051051)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transport_%20_(GO:0006810)|brush_%20_border_%20_(GO:0005903)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ion_%20_channel_%20_inhibitor_%20_activity_%20_(GO:0008200)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15987834 indel.1039 GA G . PASS FUNCOTATION=[RSC1A1|hg19|chr1|15987835|15987835|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:15987835delA|ENST00000345034.1|+|1|1471|c.1472delA|c.(1471-1473)gaafs|p.I492fs|0.41895261845386533|TTAGGTGTAGAAATTTCACCC|DDI2_ENST00000480945.1_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X82877|NM_006511.1|NP_006502.1|HGNC:10458|regulator_%20_of_%20_solute_%20_carriers_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"regulatory_%20_solute_%20_carrier_%20_protein_%2C__%20_family_%20_1_%2C__%20_member_%20_1"|RS1||1p36.21|2016-10-05||2016-09-29|BN000122_%2C__%20_X82877||6248|ENSG00000215695||NM_006511|||CCDS161|OTTHUMG00000067830|6248|601966|NM_006511|Q92681|ENSG00000215695|uc010obn.2|RSCA1_HUMAN||B2RBP5|Q92681|intestinal_%20_absorption_%20_(GO:0050892)_%7C_negative_%20_regulation_%20_of_%20_transport_%20_(GO:0051051)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transport_%20_(GO:0006810)|brush_%20_border_%20_(GO:0005903)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ion_%20_channel_%20_inhibitor_%20_activity_%20_(GO:0008200)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15993338 rs10492987 A G . PASS FUNCOTATION=[DDI2|hg19|chr1|15993338|15993338|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:15993338A>G|ENST00000480945.1|+|10|||||0.4463840399002494|ACCTGGTTCCACTTCAGAGCA||||||||||||||||||||||||||149|breast(11)_%7C_central_nervous_system(22)_%7C_haematopoietic_and_lymphoid_tissue(104)_%7C_large_intestine(11)_%7C_lung(1)|||||||CH471167|NM_032341.4|NP_115717.3|HGNC:24578|DNA_%20_damage_%20_inducible_%20_1_%20_homolog_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DDI1_%2C__%20_DNA-damage_%20_inducible_%20_1_%2C__%20_homolog_%20_2_%20_(S._%20_cerevisiae)"_%2C__%20_"DNA-damage_%20_inducible_%20_1_%20_homolog_%20_2_%20_(S._%20_cerevisiae)"_%2C__%20_"DNA-damage_%20_inducible_%20_1_%20_homolog_%20_2"|MGC14844||1p36.21|2016-10-05||2015-11-16|||84301|ENSG00000197312||NM_032341|||CCDS30607|OTTHUMG00000002381|84301||NM_032341|Q5TDH0|ENSG00000197312|uc001awz.4|DDI2_HUMAN||A8KAE1_%7C_Q7RTZ0_%7C_Q9BRT1|Q5TDH0|||aspartic-type_%20_endopeptidase_%20_activity_%20_(GO:0004190)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 16054617 variant.1044 C T . PASS FUNCOTATION=[PLEKHM2|hg19|chr1|16054617|16054617|NONSENSE||SNP|C|C|T|g.chr1:16054617C>T|ENST00000375799.3|+|10|2031|c.1804C>T|c.(1804-1806)Cga>Tga|p.R602*|0.6159600997506235|CCACGTGTTCCGAGAAAACGA|PLEKHM2_ENST00000375793.2_NONSENSE_p.R582*/RP11-288I21.1_ENST00000453804.1_RNA/PLEKHM2_ENST00000477849.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||22|central_nervous_system(22)|||||||CH471167|NM_015164.2|NP_055979.2|HGNC:29131|pleckstrin_%20_homology_%20_and_%20_RUN_%20_domain_%20_containing_%20_M2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_M_%20_(with_%20_RUN_%20_domain)_%20_member_%20_2"|KIAA0842||1p36.21|2016-10-05||2015-11-18|AB020649||23207|ENSG00000116786|10048485|NM_015164|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS44063|OTTHUMG00000003062|23207|609613|NM_015164|Q8IWE5|ENSG00000116786|uc010obo.2|PKHM2_HUMAN||O94928_%7C_Q5VT65_%7C_Q6NUH9_%7C_Q7L8G1_%7C_Q8IVT7_%7C_Q8N2T4_%7C_Q96AY0_%7C_Q9NTF7|Q8IWE5|Golgi_%20_organization_%20_(GO:0007030)|cytoplasm_%20_(GO:0005737)|kinesin_%20_binding_%20_(GO:0019894)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 16067904 rs7516080 T C . PASS FUNCOTATION=[TMEM82|hg19|chr1|16067904|16067904|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:16067904T>C|ENST00000375782.1|+||||||0.6084788029925187|TCCTCTGTGGTGAATCTCAGT|RP11-169K16.4_ENST00000418525.1_RNA/RP11-288I21.1_ENST00000453804.1_FIVE_PRIME_FLANK/TMEM82_ENST00000465575.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC137240|NM_001013641.2|NP_001013663.1|HGNC:32350|transmembrane_%20_protein_%20_82|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.21|2015-10-23|||||388595|ENSG00000162460||NM_001013641|||CCDS30608|OTTHUMG00000003065|388595||NM_001013641|A0PJX8|ENSG00000162460|uc001axc.5|TMM82_HUMAN||B2RP27_%7C_Q5VVD4|A0PJX8||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 16068364 rs35365738 G A . PASS FUNCOTATION=[TMEM82|hg19|chr1|16068364|16068364|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:16068364G>A|ENST00000375782.1|+||||||0.5486284289276808|GACAGATGGAGCCTGGGACTT|RP11-169K16.4_ENST00000418525.1_RNA/RP11-288I21.1_ENST00000453804.1_FIVE_PRIME_FLANK/TMEM82_ENST00000465575.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC137240|NM_001013641.2|NP_001013663.1|HGNC:32350|transmembrane_%20_protein_%20_82|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.21|2015-10-23|||||388595|ENSG00000162460||NM_001013641|||CCDS30608|OTTHUMG00000003065|388595||NM_001013641|A0PJX8|ENSG00000162460|uc001axc.5|TMM82_HUMAN||B2RP27_%7C_Q5VVD4|A0PJX8||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 16070922 exm20137 C T . PASS FUNCOTATION=[TMEM82|hg19|chr1|16070922|16070922|NONSENSE||SNP|C|C|T|g.chr1:16070922C>T|ENST00000375782.1|+|4|742|c.604C>T|c.(604-606)Cag>Tag|p.Q202*|0.6733167082294265|TGGCCTCCCCCAGCTGCTGGG|RP11-169K16.4_ENST00000418525.1_RNA/TMEM82_ENST00000465575.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC137240|NM_001013641.2|NP_001013663.1|HGNC:32350|transmembrane_%20_protein_%20_82|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.21|2015-10-23|||||388595|ENSG00000162460||NM_001013641|||CCDS30608|OTTHUMG00000003065|388595||NM_001013641|A0PJX8|ENSG00000162460|uc001axc.5|TMM82_HUMAN||B2RP27_%7C_Q5VVD4|A0PJX8||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 16096939 exm20219 C T . PASS FUNCOTATION=[FBLIM1|hg19|chr1|16096939|16096939|NONSENSE||SNP|C|C|T|g.chr1:16096939C>T|ENST00000375766.3|+|6|1217|c.577C>T|c.(577-579)Cga>Tga|p.R193*|0.5760598503740648|CGTGTCCCCCCGAGAGCTGGC|FBLIM1_ENST00000375771.1_NONSENSE_p.R193*/FBLIM1_ENST00000441801.2_NONSENSE_p.R193*/FBLIM1_ENST00000332305.5_NONSENSE_p.R96*/FBLIM1_ENST00000400773.1_NONSENSE_p.R96*|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC019895|NM_017556.2|NP_060026.2|HGNC:24686|filamin_%20_binding_%20_LIM_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FBLP-1_%2C__%20_CAL_%2C__%20_migfilin||1p36.21|2016-10-05|||||54751|ENSG00000162458|12679033_%2C__%20_12496242|NM_001024215|1218|LIM_%20_domain_%20_containing|CCDS163_%2C__%20_CCDS30609_%2C__%20_CCDS44064|OTTHUMG00000003079|54751|607747|NM_001024215|Q8WUP2|ENSG00000162458|uc001axd.2|FBLI1_HUMAN||B3KNY0_%7C_Q5VVE0_%7C_Q5VVE1_%7C_Q8IX23_%7C_Q96T00_%7C_Q9UFD6|Q8WUP2|cell_%20_junction_%20_assembly_%20_(GO:0034329)_%7C_regulation_%20_of_%20_cell_%20_shape_%20_(GO:0008360)_%7C_regulation_%20_of_%20_integrin_%20_activation_%20_(GO:0033623)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)|cytosol_%20_(GO:0005829)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_stress_%20_fiber_%20_(GO:0001725)|filamin_%20_binding_%20_(GO:0031005)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 16161836 rs4661661 T C . PASS FUNCOTATION=[RP11-169K16.9|hg19|chr1|16161836|16161836|RNA||SNP|T|T|C|g.chr1:16161836T>C|ENST00000317122.1|-|||c.e2+862A>G|||0.6159600997506235|AAAGTGAAGATGGGTGGTGAA|RP11-169K16.9_ENST00000535249.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 16255007 exm20355 C T . PASS FUNCOTATION=[SPEN|hg19|chr1|16255007|16255007|NONSENSE||SNP|C|C|T|g.chr1:16255007C>T|ENST00000375759.3|+|11|2476|c.2272C>T|c.(2272-2274)Cga>Tga|p.R758*|0.47880299251870323|GCTTTACAGCCGATCCTCAGA||||||||||||||||||||||||||1370|NS(200)_%7C_biliary_tract(2)_%7C_breast(210)_%7C_central_nervous_system(44)_%7C_endometrium(2)_%7C_haematopoietic_and_lymphoid_tissue(302)_%7C_kidney(141)_%7C_large_intestine(37)_%7C_lung(100)_%7C_oesophagus(13)_%7C_ovary(2)_%7C_pancreas(22)_%7C_prostate(26)_%7C_salivary_gland(212)_%7C_skin(1)_%7C_soft_tissue(8)_%7C_stomach(47)_%7C_upper_aerodigestive_tract(1)|||||||AL450998|NM_015001.2|NP_055816.2|HGNC:17575|spen_%20_family_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"SPEN_%20_homolog_%2C__%20_transcriptional_%20_regulator_%20_(Drosophila)"_%2C__%20_"spen_%20_homolog_%2C__%20_transcriptional_%20_regulator_%20_(Drosophila)"|KIAA0929_%2C__%20_MINT_%2C__%20_SHARP_%2C__%20_RBM15C||1p36.21-p36.13|2017-06-08||2013-10-17|||23013|ENSG00000065526|10451362_%2C__%20_11331609|NM_015001|725|RNA_%20_binding_%20_motif_%20_containing|CCDS164|OTTHUMG00000009376|23013|613484|NM_015001|Q96T58|ENSG00000065526|uc001axk.2|MINT_HUMAN||Q9H9A8_%7C_Q9NWH5_%7C_Q9UQ01_%7C_Q9Y556|Q96T58|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_positive_%20_regulation_%20_of_%20_neurogenesis_%20_(GO:0050769)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_viral_%20_process_%20_(GO:0016032)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleus_%20_(GO:0005634)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|nucleotide_%20_binding_%20_(GO:0000166)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_RNA_%20_polymerase_%20_II_%20_transcription_%20_factor_%20_binding_%20_(GO:0001085)_%7C_RNA_%20_polymerase_%20_II_%20_transcription_%20_factor_%20_binding_%20_transcription_%20_factor_%20_activity_%20_involved_%20_in_%20_negative_%20_regulation_%20_of_%20_transcription_%20_(GO:0001191)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_single-stranded_%20_DNA_%20_binding_%20_(GO:0003697)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|SPEN:23013|false|true|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|72649638|16255007|false|false|0|false|0|false||false|false|false|SNV|false|0x05000000060500041e000100|1|false|130|rs72649638|] -chr1 16341354 rs1048245 T G . PASS FUNCOTATION=[HSPB7|hg19|chr1|16341354|16341354|THREE_PRIME_UTR||SNP|T|T|G|g.chr1:16341354T>G|ENST00000375718.4|-|4|||||0.6109725685785536|CCAACCCCACTTGGCCTTGCC|HSPB7_ENST00000311890.9_THREE_PRIME_UTR/HSPB7_ENST00000411503.1_THREE_PRIME_UTR/CLCNKA_ENST00000464764.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471167|||HGNC:5249|heat_%20_shock_%20_protein_%20_family_%20_B_%20_(small)_%20_member_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"heat_%20_shock_%20_27kD_%20_protein_%20_family_%2C__%20_member_%20_7_%20_(cardiovascular)"_%2C__%20_"heat_%20_shock_%20_27kDa_%20_protein_%20_family_%2C__%20_member_%20_7_%20_(cardiovascular)"|cvHSP||1p36.13|2015-11-23||2015-11-19|AF155908||27129|ENSG00000173641|10593960|NM_014424|585|Small_%20_heat_%20_shock_%20_proteins|CCDS30611|OTTHUMG00000009531|27129|610692|NM_014424|Q9UBY9|ENSG00000173641|uc001axo.2|HSPB7_HUMAN||B3KQ37_%7C_C9K0Y0_%7C_Q9NU17|Q9UBY9|regulation_%20_of_%20_heart_%20_contraction_%20_(GO:0008016)_%7C_response_%20_to_%20_unfolded_%20_protein_%20_(GO:0006986)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cytoplasm_%20_(GO:0005737)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|protein_%20_C-terminus_%20_binding_%20_(GO:0008022)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 16348412 rs945425 T C . PASS FUNCOTATION=[CLCNKA|hg19|chr1|16348412|16348412|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:16348412T>C|ENST00000375692.1|+|1|||||0.6134663341645885|TTAATCTCCATGGTAAACCCC|HSPB7_ENST00000311890.9_FIVE_PRIME_FLANK/CLCNKA_ENST00000331433.4_FIVE_PRIME_FLANK/HSPB7_ENST00000375718.4_FIVE_PRIME_FLANK/HSPB7_ENST00000406363.2_FIVE_PRIME_FLANK/HSPB7_ENST00000411503.1_FIVE_PRIME_FLANK/CLCNKA_ENST00000420078.1_FIVE_PRIME_FLANK/CLCNKA_ENST00000439316.2_FIVE_PRIME_FLANK/HSPB7_ENST00000487046.1_FIVE_PRIME_FLANK/HSPB7_ENST00000545268.1_FIVE_PRIME_FLANK/CLCNKA_ENST00000464764.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z30643|||HGNC:2026|chloride_%20_voltage-gated_%20_channel_%20_Ka|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"chloride_%20_channel_%20_Ka"_%2C__%20_"chloride_%20_channel_%2C__%20_voltage-sensitive_%20_Ka"|hClC-Ka||1p36.13|2016-02-04||2016-02-04|||1187|ENSG00000186510|8544406||302|Chloride_%20_voltage-gated_%20_channels|CCDS167_%2C__%20_CCDS41269_%2C__%20_CCDS57973|OTTHUMG00000009529|1187|602024|NM_001042704|P51800|ENSG00000186510|uc001axu.4|CLCKA_HUMAN|Niflumic_%20_Acid(DB04552)|B4DPD3_%7C_E7EPH6_%7C_Q5T5P8_%7C_Q5T5Q4_%7C_Q7Z6D1_%7C_Q86VT1|P51800|excretion_%20_(GO:0007588)_%7C_ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_regulation_%20_of_%20_anion_%20_transport_%20_(GO:0044070)_%7C_transmembrane_%20_transport_%20_(GO:0055085)_%7C_transport_%20_(GO:0006810)|chloride_%20_channel_%20_complex_%20_(GO:0034707)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_plasma_%20_membrane_%20_(GO:0005886)|adenyl_%20_nucleotide_%20_binding_%20_(GO:0030554)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_voltage-gated_%20_chloride_%20_channel_%20_activity_%20_(GO:0005247)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 16486793 rs904106 A G . PASS FUNCOTATION=[EPHA2|hg19|chr1|16486793|16486793|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:16486793A>G|ENST00000358432.5|-||||||0.49875311720698257|CCTGCTCTCAACCAACTGAAC|RP11-276H7.3_ENST00000426353.1_RNA/EPHA2_ENST00000461614.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||1488|biliary_tract(2)_%7C_breast(201)_%7C_central_nervous_system(60)_%7C_haematopoietic_and_lymphoid_tissue(158)_%7C_kidney(66)_%7C_large_intestine(130)_%7C_lung(375)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_skin(31)_%7C_stomach(134)_%7C_testis(13)_%7C_upper_aerodigestive_tract(120)|||||||M59371|NM_004431.3|NP_004422.2|HGNC:3386|EPH_%20_receptor_%20_A2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ECK|"EphA2"|||1p36.13|2016-10-05||2004-10-28|BC037166|2.7.10.1|1969|ENSG00000142627|9119409|NM_004431|760_%7C_555_%7C_1095|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%7C_Fibronectin_%20_type_%20_III_%20_domain_%20_containing_%7C_EPH_%20_receptors|CCDS169|OTTHUMG00000009527|1969|176946|NM_004431|P29317|ENSG00000142627|uc001aya.2|EPHA2_HUMAN|Dasatinib(DB01254)_%7C_Regorafenib(DB08896)|B5A968_%7C_Q8N3Z2|P29317|activation_%20_of_%20_Rac_%20_GTPase_%20_activity_%20_(GO:0032863)_%7C_angiogenesis_%20_(GO:0001525)_%7C_axial_%20_mesoderm_%20_formation_%20_(GO:0048320)_%7C_bone_%20_remodeling_%20_(GO:0046849)_%7C_branching_%20_involved_%20_in_%20_mammary_%20_gland_%20_duct_%20_morphogenesis_%20_(GO:0060444)_%7C_cell_%20_adhesion_%20_(GO:0007155)_%7C_cell_%20_chemotaxis_%20_(GO:0060326)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_ephrin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048013)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_(GO:0008630)_%7C_keratinocyte_%20_differentiation_%20_(GO:0030216)_%7C_lens_%20_fiber_%20_cell_%20_morphogenesis_%20_(GO:0070309)_%7C_mammary_%20_gland_%20_epithelial_%20_cell_%20_proliferation_%20_(GO:0033598)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051898)_%7C_neural_%20_tube_%20_development_%20_(GO:0021915)_%7C_neuron_%20_differentiation_%20_(GO:0030182)_%7C_notochord_%20_cell_%20_development_%20_(GO:0060035)_%7C_notochord_%20_formation_%20_(GO:0014028)_%7C_osteoblast_%20_differentiation_%20_(GO:0001649)_%7C_osteoclast_%20_differentiation_%20_(GO:0030316)_%7C_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0018108)_%7C_positive_%20_regulation_%20_of_%20_establishment_%20_of_%20_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0090004)_%7C_post-anal_%20_tail_%20_morphogenesis_%20_(GO:0036342)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_angiogenesis_%20_(GO:0045765)_%7C_regulation_%20_of_%20_blood_%20_vessel_%20_endothelial_%20_cell_%20_migration_%20_(GO:0043535)_%7C_regulation_%20_of_%20_cell_%20_adhesion_%20_mediated_%20_by_%20_integrin_%20_(GO:0033628)_%7C_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070372)_%7C_regulation_%20_of_%20_lamellipodium_%20_assembly_%20_(GO:0010591)_%7C_response_%20_to_%20_growth_%20_factor_%20_(GO:0070848)_%7C_skeletal_%20_system_%20_development_%20_(GO:0001501)_%7C_vasculogenesis_%20_(GO:0001570)_%7C_viral_%20_process_%20_(GO:0016032)|cell_%20_projection_%20_(GO:0042995)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_leading_%20_edge_%20_membrane_%20_(GO:0031256)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ATP_%20_binding_%20_(GO:0005524)_%7C_ephrin_%20_receptor_%20_activity_%20_(GO:0005003)_%7C_transmembrane_%20_receptor_%20_protein_%20_tyrosine_%20_kinase_%20_activity_%20_(GO:0004714)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 16524869 rs221031 T C . PASS FUNCOTATION=[ARHGEF19|hg19|chr1|16524869|16524869|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:16524869T>C|ENST00000270747.3|-|16|||||0.5635910224438903|GAAGAAACTATCCTTGGCCTT|ARHGEF19_ENST00000478117.1_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC040640|NM_153213.3|NP_694945.2|HGNC:26604|Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factor_%20_19|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factor_%20_(GEF)_%20_19"|FLJ33962_%2C__%20_WGEF||1p36.13|2017-07-14||2015-11-09|BC012982||128272|ENSG00000142632|19503838|NM_153213|722|Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factors|CCDS170|OTTHUMG00000002219|128272|612496|NM_153213|Q8IW93|ENSG00000142632|uc001ayc.1|ARHGJ_HUMAN||A6NJ04_%7C_Q5TEV2_%7C_Q6PJQ4_%7C_Q8N244|Q8IW93|regulation_%20_of_%20_actin_%20_cytoskeleton_%20_organization_%20_(GO:0032956)_%7C_wound_%20_healing_%20_(GO:0042060)||GTPase_%20_activator_%20_activity_%20_(GO:0005096)_%7C_Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 16574316 rs3738632 T C . PASS FUNCOTATION=[FBXO42|hg19|chr1|16574316|16574316|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:16574316T>C|ENST00000375592.3|-|10|||||0.4139650872817955|CGCTCTGCTGTATAACCTGTG||||||||||||||||||||||||||303|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||BC063864|NM_018994.1|NP_061867.1|HGNC:29249|F-box_%20_protein_%20_42|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA1332_%2C__%20_Fbx42||1p36.13|2016-10-05|||BC063864||54455|ENSG00000037637|10718198||560|F-boxes_%20_other|CCDS30613|OTTHUMG00000002218|54455|609109|NM_018994|Q6P3S6|ENSG00000037637|uc001ayg.4|FBX42_HUMAN||B3KP30_%7C_Q5TEU8_%7C_Q86XI0_%7C_Q8N3N4_%7C_Q8N5F8_%7C_Q9BRM0_%7C_Q9P2L4|Q6P3S6|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 16785394 exm21936 C T . PASS FUNCOTATION=[NECAP2|hg19|chr1|16785394|16785394|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:16785394C>T|ENST00000504551.2|+|6|||||0.5087281795511222|GACCTGAGCACGGTTTTTCCT|NECAP2_ENST00000337132.5_THREE_PRIME_UTR/NECAP2_ENST00000406746.1_THREE_PRIME_UTR/NECAP2_ENST00000443980.2_MISSENSE_p.T242M/NECAP2_ENST00000457722.2_THREE_PRIME_UTR/RP4-798A10.2_ENST00000457898.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL669962|||HGNC:25528|NECAP_%20_endocytosis_%20_associated_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10420||1p36.13|2014-11-19|||AK021938||55707|ENSG00000157191|14555962_%2C__%20_15494011|NM_018090|||CCDS173_%2C__%20_CCDS44066_%2C__%20_CCDS44067|OTTHUMG00000002313|55707|611624|NM_001145277|Q9NVZ3|ENSG00000157191|uc001ayo.4|NECP2_HUMAN||B4DY19_%7C_E9PGQ8_%7C_Q5VSU4_%7C_Q5VSU5_%7C_Q9H7L1_%7C_Q9H8L1|Q9NVZ3|endocytosis_%20_(GO:0006897)_%7C_protein_%20_transport_%20_(GO:0015031)|clathrin_%20_vesicle_%20_coat_%20_(GO:0030125)_%7C_coated_%20_pit_%20_(GO:0005905)_%7C_intracellular_%20_(GO:0005622)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 16809796 psy_rs41269205 T G . PASS FUNCOTATION=[CROCCP3|hg19|chr1|16809796|16809796|RNA||SNP|T|T|G|g.chr1:16809796T>G|ENST00000263511.4|-|||c.e10+14A>C|||0.5860349127182045|TCAGGAGCTCTTTGGCGCTCC|||||||||||||||||||||||||||||||||||||HGNC:29405|ciliary_%20_rootlet_%20_coiled-coil_%2C__%20_rootletin_%20_pseudogene_%20_3|Approved|pseudogene|pseudogene|CROCCL2|"ciliary_%20_rootlet_%20_coiled-coil_%2C__%20_rootletin-like_%20_2"|KIAA1922||1p36.13|2014-11-19|2010-07-08|2010-07-08|AB067509||114819|ENSG00000080947|11572484|XM_057040||||OTTHUMG00000037885|114819||NR_023386|Q8IVE0|ENSG00000080947||CROL2_HUMAN||Q96PW6|Q8IVE0|centrosome_%20_organization_%20_(GO:0051297)|ciliary_%20_rootlet_%20_(GO:0035253)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 16847832 rs277462 T C . PASS FUNCOTATION=[RP4-798A10.4|hg19|chr1|16847832|16847832|LINCRNA||SNP|T|T|C|g.chr1:16847832T>C|ENST00000452795.2|+|||c.e2-227T>C|||0.5685785536159601|ACTGGCAGGGTCTCTGGCGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17311190 rs9435734 A G . PASS FUNCOTATION=[MFAP2|hg19|chr1|17311190|17311190|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:17311190A>G|ENST00000375535.3|-||||||0.5361596009975063|ACCACCCTGAACCGTCGCTGG|MFAP2_ENST00000438542.1_FIVE_PRIME_FLANK/RP1-37C10.3_ENST00000446261.1_RNA/MFAP2_ENST00000490075.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U19718|||HGNC:7033|microfibril_%20_associated_%20_protein_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"microfibrillar_%20_associated_%20_protein_%20_2"|MAGP_%2C__%20_MAGP-1|"microfibril-associated_%20_glycoprotein-1"|1p36.13|2017-05-16||2017-05-16|BC015039||4237|ENSG00000117122|7759096|NM_002403|||CCDS174_%2C__%20_CCDS44071|OTTHUMG00000002290|4237|156790|NM_001135247|P55001|ENSG00000117122|uc057csz.1|MFAP2_HUMAN||Q53X60_%7C_Q5JXY0|P55001|extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_platelet_%20_formation_%20_(GO:0030220)|extracellular_%20_region_%20_(GO:0005576)_%7C_microfibril_%20_(GO:0001527)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17312485 exm22841 C T . PASS FUNCOTATION=[ATP13A2|hg19|chr1|17312485|17312485|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:17312485C>T|ENST00000326735.8|-|29|||||0.6159600997506235|ATTTGCTACACTGACAGCAGC|ATP13A2_ENST00000452699.1_THREE_PRIME_UTR/ATP13A2_ENST00000341676.5_MISSENSE_p.V1158M/RP1-37C10.3_ENST00000446261.1_RNA|||||||||||||||||||||||||180|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471134|||HGNC:30213|ATPase_%20_13A2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PARK9|"Parkinson_%20_disease_%20_(autosomal_%20_recessive)_%20_9_%20_(Kufor-Rakeb_%20_syndrome)"_%2C__%20_"ATPase_%20_type_%20_13A2"|HSA9947_%2C__%20_CLN12||1p36.13|2017-03-24||2016-02-11|AL354615||23400|ENSG00000159363|15381061_%2C__%20_16964263|NM_022089|672_%7C_1213|Parkinson_%20_disease_%20_associated_%20_genes_%7C_ATPase_%20_orphan_%20_transporters|CCDS175_%2C__%20_CCDS44072_%2C__%20_CCDS44073|OTTHUMG00000002293|23400|610513|NM_001141973|Q9NQ11|ENSG00000159363|uc001baa.3|AT132_HUMAN||O75700_%7C_Q5JXY1_%7C_Q5JXY2_%7C_Q6S9Z9|Q9NQ11|cell_%20_death_%20_(GO:0008219)_%7C_cellular_%20_response_%20_to_%20_manganese_%20_ion_%20_(GO:0071287)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_lysosome_%20_(GO:0005764)|ATP_%20_binding_%20_(GO:0005524)_%7C_cation-transporting_%20_ATPase_%20_activity_%20_(GO:0019829)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17312586 exm22845 G A . PASS FUNCOTATION=[ATP13A2|hg19|chr1|17312586|17312586|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:17312586G>A|ENST00000326735.8|-|29|||||0.6309226932668329|GGGTGGTCTCGGGGGAGGAGT|ATP13A2_ENST00000452699.1_THREE_PRIME_UTR/ATP13A2_ENST00000341676.5_MISSENSE_p.P1124L/RP1-37C10.3_ENST00000446261.1_RNA|||||||||||||||||||||||||180|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471134|||HGNC:30213|ATPase_%20_13A2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PARK9|"Parkinson_%20_disease_%20_(autosomal_%20_recessive)_%20_9_%20_(Kufor-Rakeb_%20_syndrome)"_%2C__%20_"ATPase_%20_type_%20_13A2"|HSA9947_%2C__%20_CLN12||1p36.13|2017-03-24||2016-02-11|AL354615||23400|ENSG00000159363|15381061_%2C__%20_16964263|NM_022089|672_%7C_1213|Parkinson_%20_disease_%20_associated_%20_genes_%7C_ATPase_%20_orphan_%20_transporters|CCDS175_%2C__%20_CCDS44072_%2C__%20_CCDS44073|OTTHUMG00000002293|23400|610513|NM_001141973|Q9NQ11|ENSG00000159363|uc001baa.3|AT132_HUMAN||O75700_%7C_Q5JXY1_%7C_Q5JXY2_%7C_Q6S9Z9|Q9NQ11|cell_%20_death_%20_(GO:0008219)_%7C_cellular_%20_response_%20_to_%20_manganese_%20_ion_%20_(GO:0071287)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_lysosome_%20_(GO:0005764)|ATP_%20_binding_%20_(GO:0005524)_%7C_cation-transporting_%20_ATPase_%20_activity_%20_(GO:0019829)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17312596 exm22847 T A . PASS FUNCOTATION=[ATP13A2|hg19|chr1|17312596|17312596|THREE_PRIME_UTR||SNP|T|T|A|g.chr1:17312596T>A|ENST00000326735.8|-|29|||||0.6334164588528678|GGGGGAGGAGTGTAGACAGTC|ATP13A2_ENST00000452699.1_THREE_PRIME_UTR/ATP13A2_ENST00000341676.5_MISSENSE_p.T1121S/RP1-37C10.3_ENST00000446261.1_RNA|||||||||||||||||||||||||180|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471134|||HGNC:30213|ATPase_%20_13A2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PARK9|"Parkinson_%20_disease_%20_(autosomal_%20_recessive)_%20_9_%20_(Kufor-Rakeb_%20_syndrome)"_%2C__%20_"ATPase_%20_type_%20_13A2"|HSA9947_%2C__%20_CLN12||1p36.13|2017-03-24||2016-02-11|AL354615||23400|ENSG00000159363|15381061_%2C__%20_16964263|NM_022089|672_%7C_1213|Parkinson_%20_disease_%20_associated_%20_genes_%7C_ATPase_%20_orphan_%20_transporters|CCDS175_%2C__%20_CCDS44072_%2C__%20_CCDS44073|OTTHUMG00000002293|23400|610513|NM_001141973|Q9NQ11|ENSG00000159363|uc001baa.3|AT132_HUMAN||O75700_%7C_Q5JXY1_%7C_Q5JXY2_%7C_Q6S9Z9|Q9NQ11|cell_%20_death_%20_(GO:0008219)_%7C_cellular_%20_response_%20_to_%20_manganese_%20_ion_%20_(GO:0071287)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_lysosome_%20_(GO:0005764)|ATP_%20_binding_%20_(GO:0005524)_%7C_cation-transporting_%20_ATPase_%20_activity_%20_(GO:0019829)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17395480 exm2273318 G A . PASS FUNCOTATION=[PADI2|hg19|chr1|17395480|17395480|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:17395480G>A|ENST00000375486.4|-|16|||||0.5985037406483791|GGCTCTGGGCGTGTGAGGGAG|PADI2_ENST00000444885.2_THREE_PRIME_UTR/PADI2_ENST00000466151.1_INTRON|||||||||||||||||||||||||161|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC009701|NM_007365.2|NP_031391.2|HGNC:18341|peptidyl_%20_arginine_%20_deiminase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_II"|KIAA0994_%2C__%20_PDI2||1p36.13|2016-10-05||2016-04-06|AB030176|3.5.3.15|11240|ENSG00000117115|2768262||677|Peptidyl_%20_arginine_%20_deiminases|CCDS177|OTTHUMG00000002295|11240|607935|NM_007365|Q9Y2J8|ENSG00000117115|uc001baf.4|PADI2_HUMAN|L-Citrulline(DB00155)|Q96DA7_%7C_Q9UPN2|Q9Y2J8|chromatin-mediated_%20_maintenance_%20_of_%20_transcription_%20_(GO:0048096)_%7C_histone_%20_H3-R26_%20_citrullination_%20_(GO:0036413)_%7C_intracellular_%20_estrogen_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030520)_%7C_negative_%20_regulation_%20_of_%20_chemokine-mediated_%20_signaling_%20_pathway_%20_(GO:0070100)_%7C_negative_%20_regulation_%20_of_%20_lymphocyte_%20_chemotaxis_%20_(GO:1901624)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_chromatin_%20_disassembly_%20_(GO:0010848)_%7C_substantia_%20_nigra_%20_development_%20_(GO:0021762)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_transcriptionally_%20_active_%20_chromatin_%20_(GO:0035327)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_estrogen_%20_receptor_%20_binding_%20_(GO:0030331)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17395521 rs2076598 G A . PASS FUNCOTATION=[PADI2|hg19|chr1|17395521|17395521|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:17395521G>A|ENST00000375486.4|-|16|||||0.6059850374064838|GGAGGCAAACGCCAGGGCCCC|PADI2_ENST00000444885.2_THREE_PRIME_UTR/PADI2_ENST00000466151.1_INTRON|||||||||||||||||||||||||161|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC009701|NM_007365.2|NP_031391.2|HGNC:18341|peptidyl_%20_arginine_%20_deiminase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_II"|KIAA0994_%2C__%20_PDI2||1p36.13|2016-10-05||2016-04-06|AB030176|3.5.3.15|11240|ENSG00000117115|2768262||677|Peptidyl_%20_arginine_%20_deiminases|CCDS177|OTTHUMG00000002295|11240|607935|NM_007365|Q9Y2J8|ENSG00000117115|uc001baf.4|PADI2_HUMAN|L-Citrulline(DB00155)|Q96DA7_%7C_Q9UPN2|Q9Y2J8|chromatin-mediated_%20_maintenance_%20_of_%20_transcription_%20_(GO:0048096)_%7C_histone_%20_H3-R26_%20_citrullination_%20_(GO:0036413)_%7C_intracellular_%20_estrogen_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030520)_%7C_negative_%20_regulation_%20_of_%20_chemokine-mediated_%20_signaling_%20_pathway_%20_(GO:0070100)_%7C_negative_%20_regulation_%20_of_%20_lymphocyte_%20_chemotaxis_%20_(GO:1901624)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_chromatin_%20_disassembly_%20_(GO:0010848)_%7C_substantia_%20_nigra_%20_development_%20_(GO:0021762)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_transcriptionally_%20_active_%20_chromatin_%20_(GO:0035327)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_estrogen_%20_receptor_%20_binding_%20_(GO:0030331)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17521274 rs3003469 G A . PASS FUNCOTATION=[RP11-380J14.1|hg19|chr1|17521274|17521274|LINCRNA||SNP|G|G|A|g.chr1:17521274G>A|ENST00000412427.1|+|||c.e3+1488G>A|||0.5536159600997507|GTCAGATGACGCTAGGTGCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17634718 exm23564 A G . PASS FUNCOTATION=[PADI4|hg19|chr1|17634718|17634718|START_CODON_SNP||SNP|A|A|G|g.chr1:17634718A>G|ENST00000375448.4|+|1|27|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6134663341645885|TAGCCCGACGATGGCCCAGGG|PADI4_ENST00000375453.1_START_CODON_SNP_p.M1V|||||||||||||||||||||||||70|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_urinary_tract(1)|||||||BC025718|NM_012387.2|NP_036519.2|HGNC:18368|peptidyl_%20_arginine_%20_deiminase_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PADI5|"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_V"_%2C__%20_"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_IV"|PAD_%2C__%20_PDI5_%2C__%20_PDI4||1p36.13|2016-04-06||2016-04-06|AB017919|3.5.3.15|23569|ENSG00000159339|10488123|NM_012387|677|Peptidyl_%20_arginine_%20_deiminases|CCDS180|OTTHUMG00000002371|23569|605347|NM_012387|Q9UM07|ENSG00000159339|uc001baj.3|PADI4_HUMAN|L-Citrulline(DB00155)|A8K392_%7C_B2RBW0_%7C_Q5VTZ8_%7C_Q70SX4|Q9UM07|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)_%7C_chromatin_%20_modification_%20_(GO:0016568)_%7C_chromatin_%20_remodeling_%20_(GO:0006338)_%7C_histone_%20_citrullination_%20_(GO:0036414)_%7C_histone_%20_H3-R26_%20_citrullination_%20_(GO:0036413)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_nucleosome_%20_assembly_%20_(GO:0006334)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_stem_%20_cell_%20_maintenance_%20_(GO:0019827)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|arginine_%20_deiminase_%20_activity_%20_(GO:0016990)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|PADI4:23569|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|141280036|17634718|false|true|0|false|0|false|0.999176_%2C_0.000824232|false|false|false|SNV|true|0x050200000a05040426000100|1|false|134|rs141280036|] -chr1 17698750 exm23709 G A . PASS FUNCOTATION=[PADI6|hg19|chr1|17698750|17698750|RNA||SNP|G|G|A|g.chr1:17698750G>A|ENST00000434762.2|+|||c.e1+59G>A|||0.6084788029925187|GATGGTCAGCGTGGAGGGCCG||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17699676 exm23721 C T . PASS FUNCOTATION=[PADI6|hg19|chr1|17699676|17699676|RNA||SNP|C|C|T|g.chr1:17699676C>T|ENST00000434762.2|+|||c.e2-52C>T|||0.5910224438902744|TCTGATCCCACGTACGCCACA||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17699720 exm23724 G A . PASS FUNCOTATION=[PADI6|hg19|chr1|17699720|17699720|RNA||SNP|G|G|A|g.chr1:17699720G>A|ENST00000434762.2|+|||c.e2-8G>A|||0.5835411471321695|TTCCGTGGATGCGGATAAGGT||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17701961 exm23726 G A . PASS FUNCOTATION=[PADI6|hg19|chr1|17701961|17701961|RNA||SNP|G|G|A|g.chr1:17701961G>A|ENST00000434762.2|+|||c.e3-33G>A|||0.5660847880299252|GGATGCCCCCGTGGGCACAGC||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17706442 exm23728 G A . PASS FUNCOTATION=[PADI6|hg19|chr1|17706442|17706442|RNA||SNP|G|G|A|g.chr1:17706442G>A|ENST00000434762.2|+|||c.e4+27G>A|||0.5087281795511222|GACATCTACCGCAATGGGCAA||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17714864 rs6696295 T C . PASS FUNCOTATION=[PADI6|hg19|chr1|17714864|17714864|RNA||SNP|T|T|C|g.chr1:17714864T>C|ENST00000434762.2|+|||c.e7-12T>C|||0.5236907730673317|CCATCCCTTCTTTCTCTCCTA||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17714971 exm23745 G A . PASS FUNCOTATION=[PADI6|hg19|chr1|17714971|17714971|RNA||SNP|G|G|A|g.chr1:17714971G>A|ENST00000434762.2|+|||c.e7-83G>A|||0.5411471321695761|GACTTTCTACGTTGAAGCTAT||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17715015 exm23747 C G . PASS FUNCOTATION=[PADI6|hg19|chr1|17715015|17715015|RNA||SNP|C|C|G|g.chr1:17715015C>G|ENST00000434762.2|+|||c.e7-39C>G|||0.5660847880299252|CAGGCCTCATCTCCTACTCTG||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17715081 rs2526842 C T . PASS FUNCOTATION=[PADI6|hg19|chr1|17715081|17715081|RNA||SNP|C|C|T|g.chr1:17715081C>T|ENST00000434762.2|+|||c.e7+27C>T|||0.5660847880299252|GATGGGTCCTCAGACTAGGAT||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17719843 rs6695214 T C . PASS FUNCOTATION=[PADI6|hg19|chr1|17719843|17719843|RNA||SNP|T|T|C|g.chr1:17719843T>C|ENST00000434762.2|+|||c.e10-628T>C|||0.4513715710723192|CTGGCTAAGATGTAGGGAACA||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17720515 exm23765 G A . PASS FUNCOTATION=[PADI6|hg19|chr1|17720515|17720515|RNA||SNP|G|G|A|g.chr1:17720515G>A|ENST00000434762.2|+|||c.e10+44G>A|||0.5610972568578554|ACAAGACAACGTCCTTGATCC||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17720542 exm23766 C T . PASS FUNCOTATION=[PADI6|hg19|chr1|17720542|17720542|RNA||SNP|C|C|T|g.chr1:17720542C>T|ENST00000434762.2|+|||c.e10-36C>T|||0.5610972568578554|CACCTCAGGCCGCCGATCTCG||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17720545 exm23767 C T . PASS FUNCOTATION=[PADI6|hg19|chr1|17720545|17720545|RNA||SNP|C|C|T|g.chr1:17720545C>T|ENST00000434762.2|+|||c.e10-33C>T|||0.5660847880299252|CTCAGGCCGCCGATCTCGATG||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17721453 exm23776 G C . PASS FUNCOTATION=[PADI6|hg19|chr1|17721453|17721453|RNA||SNP|G|G|C|g.chr1:17721453G>C|ENST00000434762.2|+|||c.e12+6G>C|||0.5586034912718204|CTAGCGCAGAGGGCCGGGCCA||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17722110 exm23785 C T . PASS FUNCOTATION=[PADI6|hg19|chr1|17722110|17722110|RNA||SNP|C|C|T|g.chr1:17722110C>T|ENST00000434762.2|+|||c.e13-49C>T|||0.516209476309227|AAGGCTATGGCGACGCTCTTC||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17722113 exm23787 C T . PASS FUNCOTATION=[PADI6|hg19|chr1|17722113|17722113|RNA||SNP|C|C|T|g.chr1:17722113C>T|ENST00000434762.2|+|||c.e13-46C>T|||0.513715710723192|GCTATGGCGACGCTCTTCTGT||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17722363 exm-rs7538876 G A . PASS FUNCOTATION=[PADI6|hg19|chr1|17722363|17722363|RNA||SNP|G|G|A|g.chr1:17722363G>A|ENST00000434762.2|+|||c.e13+204G>A|||0.4912718204488778|GGGATGGCCTGGAGGCTGTTT||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17722363 rs7538876 G A . PASS FUNCOTATION=[PADI6|hg19|chr1|17722363|17722363|RNA||SNP|G|G|A|g.chr1:17722363G>A|ENST00000434762.2|+|||c.e13+204G>A|||0.4912718204488778|GGGATGGCCTGGAGGCTGTTT||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17723586 exm23790 C T . PASS FUNCOTATION=[PADI6|hg19|chr1|17723586|17723586|RNA||SNP|C|C|T|g.chr1:17723586C>T|ENST00000434762.2|+|||c.e14+19C>T|||0.600997506234414|CCAAAACCATCGACCAACTTC||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17723587 exm23791 G A . PASS FUNCOTATION=[PADI6|hg19|chr1|17723587|17723587|RNA||SNP|G|G|A|g.chr1:17723587G>A|ENST00000434762.2|+|||c.e14+20G>A|||0.600997506234414|CAAAACCATCGACCAACTTCT||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17727811 exm23804 G C . PASS FUNCOTATION=[PADI6|hg19|chr1|17727811|17727811|RNA||SNP|G|G|C|g.chr1:17727811G>C|ENST00000434762.2|+|||c.e16+110G>C|||0.5760598503740648|TGGAGCCCCTGGGCTTCAAGT||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17727838 exm23807 C T . PASS FUNCOTATION=[PADI6|hg19|chr1|17727838|17727838|RNA||SNP|C|C|T|g.chr1:17727838C>T|ENST00000434762.2|+|||c.e16+137C>T|||0.57356608478803|TCATCAATGACTTTGACTGTT||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17727860 exm23809 G A . PASS FUNCOTATION=[PADI6|hg19|chr1|17727860|17727860|RNA||SNP|G|G|A|g.chr1:17727860G>A|ENST00000434762.2|+|||c.e16+159G>A|||0.5586034912718204|CCTGACAGAGGTCGGAGACAT||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 17728119 rs2526830 A G . PASS FUNCOTATION=[PADI6|hg19|chr1|17728119|17728119|RNA||SNP|A|A|G|g.chr1:17728119A>G|ENST00000434762.2|+|||c.e16-76A>G|||0.5511221945137157|TTGAACCCCTATGGGGAAAAG||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 18046287 rs4920626 G T . PASS FUNCOTATION=[RP11-473A10.2|hg19|chr1|18046287|18046287|LINCRNA||SNP|G|G|T|g.chr1:18046287G>T|ENST00000430540.1|+|||c.e2+1072G>T|||0.5910224438902744|CATATCATGCGCCTCTATAAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 18054323 psy_rs6703085 A C . PASS FUNCOTATION=[RP11-473A10.2|hg19|chr1|18054323|18054323|LINCRNA||SNP|A|A|C|g.chr1:18054323A>C|ENST00000430540.1|+|||c.e3+6060A>C|||0.4114713216957606|CTCCCTCCTTACTTCCCTCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 18060436 rs11584168 C T . PASS FUNCOTATION=[RP11-473A10.2|hg19|chr1|18060436|18060436|LINCRNA||SNP|C|C|T|g.chr1:18060436C>T|ENST00000430540.1|+|||c.e3+12173C>T|||0.5386533665835411|TTCCATCAAACGCCGCGTGAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 18065643 rs2077398 T C . PASS FUNCOTATION=[RP11-473A10.2|hg19|chr1|18065643|18065643|LINCRNA||SNP|T|T|C|g.chr1:18065643T>C|ENST00000430540.1|+|||c.e4-10529T>C|||0.47880299251870323|CTCTCCAGGCTCTCAGCAACC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 18069118 psy_rs260524 T G . PASS FUNCOTATION=[RP11-473A10.2|hg19|chr1|18069118|18069118|LINCRNA||SNP|T|T|G|g.chr1:18069118T>G|ENST00000430540.1|+|||c.e4-7054T>G|||0.46633416458852867|CTAGACCAGGTTTCTGCAAAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 18392608 rs4920421 C T . PASS FUNCOTATION=[RP11-174G17.2|hg19|chr1|18392608|18392608|LINCRNA||SNP|C|C|T|g.chr1:18392608C>T|ENST00000569711.1|+|||c.e1+267C>T|||0.46633416458852867|ATTACCAGCTCAGAGAAGTGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 18399535 psy_rs72653385 G A . PASS FUNCOTATION=[RP11-174G17.2|hg19|chr1|18399535|18399535|LINCRNA||SNP|G|G|A|g.chr1:18399535G>A|ENST00000569711.1|+|||c.e3+821G>A|||0.49625935162094764|AGGGAAAAATGTTGCCAGGCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 19198064 rs1138333 T G . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198064|19198064|THREE_PRIME_UTR||SNP|T|T|G|g.chr1:19198064T>G|ENST00000375341.3|-|15|||||0.5536159600997507|AAATGACACATATCCTGGAAG|ALDH4A1_ENST00000290597.5_THREE_PRIME_UTR/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 19198100 kgp468659 C G . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198100|19198100|THREE_PRIME_UTR||SNP|C|C|G|g.chr1:19198100C>G|ENST00000375341.3|-|15|||||0.5511221945137157|CCCAGCCCAGCTGGCACCAGC|ALDH4A1_ENST00000290597.5_THREE_PRIME_UTR/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 19198166 kgp8524245 G A . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198166|19198166|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:19198166G>A|ENST00000375341.3|-|15|||||0.5685785536159601|CCAGCTCCGGGTGGGGTCCCA|ALDH4A1_ENST00000290597.5_THREE_PRIME_UTR/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 19198299 kgp15236875 G A . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198299|19198299|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:19198299G>A|ENST00000375341.3|-|15|||||0.5910224438902744|GGGAGGAATCGTGGTCACAGA|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 19198414 kgp6288782 G A . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198414|19198414|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:19198414G>A|ENST00000375341.3|-|15|||||0.5685785536159601|CCATGCTGACGAACCCAAGGC|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 19198576 kgp4426348 A G . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198576|19198576|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:19198576A>G|ENST00000375341.3|-|15|||||0.6134663341645885|CTGAGGATCAAAGGGAAGGCT|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 19198627 GA018624 G A . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198627|19198627|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:19198627G>A|ENST00000375341.3|-|15|||||0.6184538653366584|CCAGAATCACGGCCTAAACCG|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 19198637 GA018625 G A . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198637|19198637|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:19198637G>A|ENST00000375341.3|-|15|||||0.6109725685785536|GGCCTAAACCGGCAGGACCAT|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 19198837 kgp15504222 T C . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198837|19198837|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:19198837T>C|ENST00000375341.3|-|15|||||0.6234413965087282|GTGAGGAAGGTAGACAGCCCA|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 19198895 rs9117 A G . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198895|19198895|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:19198895A>G|ENST00000375341.3|-|15|||||0.6159600997506235|CCCACAGGTCAGTCTGAGTTA|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 19198972 kgp24983758 G A . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198972|19198972|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:19198972G>A|ENST00000375341.3|-|15|||||0.6159600997506235|GGTGAGGTTTGCCAAGGGGCC|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 19199067 kgp1588165 G A . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19199067|19199067|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:19199067G>A|ENST00000375341.3|-|15|||||0.5960099750623441|GCCCAGTGGAGGGCAGAGGGA|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 19199217 kgp25228545 A G . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19199217|19199217|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:19199217A>G|ENST00000375341.3|-|15|||||0.6159600997506235|AAGGGAGTCAAGCCCGGATTA|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 19229092 kgp15363246 G A . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19229092|19229092|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:19229092G>A|ENST00000375341.3|-|1|||||0.6408977556109726|CGTCCAGAGCGCACCACCTCG|ALDH4A1_ENST00000290597.5_FIVE_PRIME_FLANK/ALDH4A1_ENST00000538839.1_FIVE_PRIME_FLANK/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 19578192 rs2294942 G A . PASS FUNCOTATION=[MRTO4|hg19|chr1|19578192|19578192|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:19578192G>A|ENST00000330263.4|+|1|||||0.71571072319202|GCGGCGGCTTGGCAGGGAGAG|EMC1_ENST00000356068.2_FIVE_PRIME_FLANK/EMC1_ENST00000375199.3_FIVE_PRIME_FLANK/EMC1_ENST00000375208.3_FIVE_PRIME_FLANK/EMC1_ENST00000477853.1_FIVE_PRIME_FLANK/MRTO4_ENST00000493700.1_FIVE_PRIME_FLANK|GBM(192_%3B_2418_%20_3032_%20_7540_%20_48714)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471134|NM_016183.3|NP_057267.2|HGNC:18477|MRT4_%20_homolog_%2C__%20_ribosome_%20_maturation_%20_factor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf33|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_33"_%2C__%20_"MRT4_%2C__%20_mRNA_%20_turnover_%20_4_%2C__%20_homolog_%20_(S._%20_cerevisiae)"_%2C__%20_"mRNA_%20_turnover_%20_4_%20_homolog_%20_(S._%20_cerevisiae)"|dJ657E11.4_%2C__%20_MRT4||1p36.13|2015-07-02|2007-01-05|2015-07-02|AK027569||51154|ENSG00000053372|20083226|NM_016183|||CCDS191|OTTHUMG00000002496|51154||NM_016183|Q9UKD2|ENSG00000053372|uc001bbs.4|MRT4_HUMAN||B3KNB3_%7C_Q5TG55_%7C_Q96SS6_%7C_Q9BPV9|Q9UKD2|ribosome_%20_biogenesis_%20_(GO:0042254)|nuclear_%20_membrane_%20_(GO:0031965)_%7C_nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 19593199 rs7527253 T C . PASS FUNCOTATION=[AKR7L|hg19|chr1|19593199|19593199|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:19593199T>C|ENST00000420396.2|-|5|||||0.3765586034912718|TTTTTACTTATTGGCTATTAT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC035351|||HGNC:24056|aldo-keto_%20_reductase_%20_family_%20_7_%20_like_%20_(gene/pseudogene)|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"aldo-keto_%20_reductase_%20_family_%20_7-like"|AFAR3||1p36.13|2017-02-09||2016-06-03|||246181|ENSG00000211454|12879023|NM_201252||||OTTHUMG00000002520|246181|608478|NR_040288|Q8NHP1|ENSG00000211454|uc057cwi.1|ARK74_HUMAN||Q5U614|Q8NHP1||extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|oxidoreductase_%20_activity_%20_(GO:0016491)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 19922387 rs1737416 C T . PASS FUNCOTATION=[MINOS1|hg19|chr1|19922387|19922387|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:19922387C>T|ENST00000322753.6|+||||||0.39900249376558605|TTGCATACAACCTACACACAT|MINOS1-NBL1_ENST00000602662.1_FIVE_PRIME_FLANK/RP5-1056L3.1_ENST00000416470.1_RNA/MINOS1_ENST00000486890.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||BC070388|NM_001204083.1|NP_001191012.1|HGNC:32068|mitochondrial_%20_inner_%20_membrane_%20_organizing_%20_system_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf151|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_151"|RP5-1056L3.2_%2C__%20_FLJ36999_%2C__%20_MIO10_%2C__%20_Mic10||1p36.13|2015-06-01|2011-10-04|2011-10-04|AK094318||440574|ENSG00000173436|21944719|NM_001032363|||CCDS30620_%2C__%20_CCDS72719|OTTHUMG00000002712|440574|616574|NM_001032363|Q5TGZ0|ENSG00000173436|uc001bci.3|MIC10_HUMAN||Q96G68|Q5TGZ0||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrion_%20_(GO:0005739)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 19954014 rs880554 G T . PASS FUNCOTATION=[MINOS1|hg19|chr1|19954014|19954014|THREE_PRIME_UTR||SNP|G|G|T|g.chr1:19954014G>T|ENST00000322753.6|+|4|||||0.4763092269326683|GGAGAAGAGAGGTGTAGGCAA|MINOS1-NBL1_ENST00000602662.1_INTRON|||||||||||||||||||||||||||||||||BC070388|NM_001204083.1|NP_001191012.1|HGNC:32068|mitochondrial_%20_inner_%20_membrane_%20_organizing_%20_system_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf151|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_151"|RP5-1056L3.2_%2C__%20_FLJ36999_%2C__%20_MIO10_%2C__%20_Mic10||1p36.13|2015-06-01|2011-10-04|2011-10-04|AK094318||440574|ENSG00000173436|21944719|NM_001032363|||CCDS30620_%2C__%20_CCDS72719|OTTHUMG00000002712|440574|616574|NM_001032363|Q5TGZ0|ENSG00000173436|uc001bci.3|MIC10_HUMAN||Q96G68|Q5TGZ0||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrion_%20_(GO:0005739)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20008880 rs9064 G T . PASS FUNCOTATION=[TMCO4|hg19|chr1|20008880|20008880|THREE_PRIME_UTR||SNP|G|G|T|g.chr1:20008880G>T|ENST00000294543.6|-|16|||||0.486284289276808|CTCTGTTAGTGGTGTCCAGAT|TMCO4_ENST00000375127.1_THREE_PRIME_UTR/TMCO4_ENST00000375122.2_THREE_PRIME_UTR/TMCO4_ENST00000489814.1_INTRON|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BX640987|NM_181719.4|NP_859070.3|HGNC:27393|transmembrane_%20_and_%20_coiled-coil_%20_domains_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||DKFZp686C23231||1p36.13|2014-11-19|||||255104|ENSG00000162542||NM_181719|||CCDS198|OTTHUMG00000002697|255104||NM_181719|Q5TGY1|ENSG00000162542|uc001bcn.3|TMCO4_HUMAN||Q5TGY2_%7C_Q6MZN5_%7C_Q7Z6K6_%7C_Q9UQP4_%7C_Q9Y3K1|Q5TGY1||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20142681 rs3806310 A G . PASS FUNCOTATION=[RNF186|hg19|chr1|20142681|20142681|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:20142681A>G|ENST00000375121.2|-||||||0.5461346633416458|CCTTCCATGGAGCAGGACCTT|RP11-91K11.2_ENST00000454736.1_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR457228|NM_019062.1|NP_061935.1|HGNC:25978|ring_%20_finger_%20_protein_%20_186|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ20225|"hypothetical_%20_protein_%20_FLJ20225"|1p36.13|2014-11-19|||||54546|ENSG00000178828|12477932|NM_019062|58|Ring_%20_finger_%20_proteins|CCDS199|OTTHUMG00000002709|54546|617163|NM_019062|Q9NXI6|ENSG00000178828|uc001bcr.3|RN186_HUMAN||Q53GE0|Q9NXI6||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20142866 exm-rs3806308 C T . PASS FUNCOTATION=[RNF186|hg19|chr1|20142866|20142866|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:20142866C>T|ENST00000375121.2|-||||||0.5311720698254364|GGGCAAATGGCGGGGTGGCAT|RP11-91K11.2_ENST00000454736.1_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR457228|NM_019062.1|NP_061935.1|HGNC:25978|ring_%20_finger_%20_protein_%20_186|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ20225|"hypothetical_%20_protein_%20_FLJ20225"|1p36.13|2014-11-19|||||54546|ENSG00000178828|12477932|NM_019062|58|Ring_%20_finger_%20_proteins|CCDS199|OTTHUMG00000002709|54546|617163|NM_019062|Q9NXI6|ENSG00000178828|uc001bcr.3|RN186_HUMAN||Q53GE0|Q9NXI6||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20144332 rs17396847 G A . PASS FUNCOTATION=[RNF186|hg19|chr1|20144332|20144332|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:20144332G>A|ENST00000375121.2|-||||||0.38403990024937656|AAAGGGTCAGGCATTGATGAG|RP11-91K11.2_ENST00000454736.1_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR457228|NM_019062.1|NP_061935.1|HGNC:25978|ring_%20_finger_%20_protein_%20_186|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ20225|"hypothetical_%20_protein_%20_FLJ20225"|1p36.13|2014-11-19|||||54546|ENSG00000178828|12477932|NM_019062|58|Ring_%20_finger_%20_proteins|CCDS199|OTTHUMG00000002709|54546|617163|NM_019062|Q9NXI6|ENSG00000178828|uc001bcr.3|RN186_HUMAN||Q53GE0|Q9NXI6||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20238343 rs1046548 A G . PASS FUNCOTATION=[OTUD3|hg19|chr1|20238343|20238343|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:20238343A>G|ENST00000375120.3|+|8|||||0.46633416458852867|AGCTTACCGCACACCGCTGAT||||||||||||||||||||||||||||||||||BC134416|NM_015207.1|NP_056022.1|HGNC:29038|OTU_%20_deubiquitinase_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"OTU_%20_domain_%20_containing_%20_3"|KIAA0459_%2C__%20_DUBA4||1p36.13|2014-11-19||2014-02-24|AB007928||23252|ENSG00000169914|9455484_%2C__%20_23827681||669|OTU_%20_domain_%20_containing|CCDS41279|OTTHUMG00000002696|23252|611758|NM_015207|Q5T2D3|ENSG00000169914|uc001bcs.5|OTUD3_HUMAN||O75047|Q5T2D3|protein_%20_K11-linked_%20_deubiquitination_%20_(GO:0035871)_%7C_protein_%20_K6-linked_%20_deubiquitination_%20_(GO:0044313)||ubiquitin-specific_%20_protease_%20_activity_%20_(GO:0004843)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20301964 rs11677 G A . PASS FUNCOTATION=[PLA2G2A|hg19|chr1|20301964|20301964|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:20301964G>A|ENST00000375111.3|-|6|||||0.5062344139650873|GAGACCCCCCGGAGTACAGCT|PLA2G2A_ENST00000400520.3_THREE_PRIME_UTR/PLA2G2A_ENST00000496748.1_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||M22431|NM_001161727.1|NP_001155199.1|HGNC:9031|phospholipase_%20_A2_%20_group_%20_IIA|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PLA2B_%2C__%20_PLA2L|"phospholipase_%20_A2_%2C__%20_group_%20_IIA_%20_(platelets_%2C__%20_synovial_%20_fluid)"|||1p36.13|2016-10-05||2015-11-18|BC005919|3.1.1.4|5320|ENSG00000188257|8838795|NM_000300|467|Phospholipases|CCDS201|OTTHUMG00000002699|5320|172411|NM_000300|P14555|ENSG00000188257|uc001bcv.4|PA2GA_HUMAN|Diclofenac(DB00586)_%7C_Ginkgo_%20_biloba(DB01381)_%7C_Indomethacin(DB00328)_%7C_Suramin(DB04786)|A8K5I7_%7C_Q6DN24_%7C_Q6IBD9_%7C_Q9UCD2|P14555|defense_%20_response_%20_to_%20_Gram-positive_%20_bacterium_%20_(GO:0050830)_%7C_glycerophospholipid_%20_biosynthetic_%20_process_%20_(GO:0046474)_%7C_lipid_%20_catabolic_%20_process_%20_(GO:0016042)_%7C_low-density_%20_lipoprotein_%20_particle_%20_remodeling_%20_(GO:0034374)_%7C_negative_%20_regulation_%20_of_%20_epithelial_%20_cell_%20_proliferation_%20_(GO:0050680)_%7C_phosphatidic_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0006654)_%7C_phosphatidic_%20_acid_%20_metabolic_%20_process_%20_(GO:0046473)_%7C_phosphatidylcholine_%20_acyl-chain_%20_remodeling_%20_(GO:0036151)_%7C_phosphatidylethanolamine_%20_acyl-chain_%20_remodeling_%20_(GO:0036152)_%7C_phosphatidylglycerol_%20_acyl-chain_%20_remodeling_%20_(GO:0036148)_%7C_phosphatidylinositol_%20_acyl-chain_%20_remodeling_%20_(GO:0036149)_%7C_phosphatidylserine_%20_acyl-chain_%20_remodeling_%20_(GO:0036150)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_positive_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050729)_%7C_positive_%20_regulation_%20_of_%20_macrophage_%20_derived_%20_foam_%20_cell_%20_differentiation_%20_(GO:0010744)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)_%7C_secretory_%20_granule_%20_(GO:0030141)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_calcium-dependent_%20_phospholipase_%20_A2_%20_activity_%20_(GO:0047498)_%7C_phospholipase_%20_A2_%20_activity_%20_(GO:0004623)_%7C_phospholipid_%20_binding_%20_(GO:0005543)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20442070 indel.1397 CA C . PASS FUNCOTATION=[PLA2G2D|hg19|chr1|20442071|20442071|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:20442071delA|ENST00000375105.3|-|3|281|c.221delT|c.(220-222)ctgfs|p.L74fs|0.5635910224438903|CTGGGTCTTCAGGTGGTCATA||Melanoma(60_%3B_742_%20_1548_%20_31762_%20_39240)||||||||||||||||||||||||121|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_skin(31)|||||||EU447440|NM_012400.3|NP_036532.1|HGNC:9033|phospholipase_%20_A2_%20_group_%20_IID|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phospholipase_%20_A2_%2C__%20_group_%20_IID"|sPLA2S||1p36.12|2015-11-18||2015-11-18|AF112982|3.1.1.4|26279|ENSG00000117215|10455175||467|Phospholipases|CCDS203_%2C__%20_CCDS72721|OTTHUMG00000002701|26279|605630|NM_001271814|Q9UNK4|ENSG00000117215|uc001bcz.5|PA2GD_HUMAN||A8K2Z1_%7C_B1AEL9_%7C_Q9UK01|Q9UNK4|glycerophospholipid_%20_biosynthetic_%20_process_%20_(GO:0046474)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_lipid_%20_catabolic_%20_process_%20_(GO:0016042)_%7C_phosphatidic_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0006654)_%7C_phosphatidylcholine_%20_acyl-chain_%20_remodeling_%20_(GO:0036151)_%7C_phosphatidylethanolamine_%20_acyl-chain_%20_remodeling_%20_(GO:0036152)_%7C_phosphatidylglycerol_%20_acyl-chain_%20_remodeling_%20_(GO:0036148)_%7C_phosphatidylinositol_%20_acyl-chain_%20_remodeling_%20_(GO:0036149)_%7C_phosphatidylserine_%20_acyl-chain_%20_remodeling_%20_(GO:0036150)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_phospholipase_%20_A2_%20_activity_%20_(GO:0004623)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20520732 rs7542020 T C . PASS FUNCOTATION=[UBXN10|hg19|chr1|20520732|20520732|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:20520732T>C|ENST00000375099.3|+|2|||||0.4513715710723192|CAAACCTTCATGATAGGTTAC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98257|NM_152376.3|NP_689589.1|HGNC:26354|UBX_%20_domain_%20_protein_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|UBXD3|"UBX_%20_domain_%20_containing_%20_3"|FLJ25429||1p36.12|2016-10-05|2008-07-25|2008-07-25|AK058158||127733|ENSG00000162543|12477932|NM_152376|364|UBX_%20_domain_%20_containing|CCDS205|OTTHUMG00000002708|127733|616783|NM_152376|Q96LJ8|ENSG00000162543|uc001bdb.4|UBX10_HUMAN||Q5R386|Q96LJ8|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20570287 rs10916732 G T . PASS FUNCOTATION=[RP3-340N1.6|hg19|chr1|20570287|20570287|LINCRNA||SNP|G|G|T|g.chr1:20570287G>T|ENST00000435552.1|+|||c.e2-502G>T|||0.33665835411471323|TTGCCAAGAAGTGTTCTCTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20617419 rs12738826 T C . PASS FUNCOTATION=[VWA5B1|hg19|chr1|20617419|20617419|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:20617419T>C|ENST00000375079.2|+|1|||||0.6084788029925187|GCTATCGCAATGTGGGCATTG|VWA5B1_ENST00000289815.8_FIVE_PRIME_UTR/VWA5B1_ENST00000375083.4_FIVE_PRIME_UTR/VWA5B1_ENST00000289825.4_FIVE_PRIME_UTR|||||||||||||||||||||||||1|salivary_gland(1)|||||||BC101381|NM_001039500.2|NP_001034589.2|HGNC:26538|von_%20_Willebrand_%20_factor_%20_A_%20_domain_%20_containing_%20_5B1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32784||1p36.12|2014-11-19|||AK125833_%2C__%20_AK057346||127731|ENSG00000158816||XM_001722222||||OTTHUMG00000002835|127731||NM_001039500|Q5TIE3|ENSG00000158816|uc057cyt.1|VW5B1_HUMAN||A4IF35_%7C_A4IF36_%7C_Q3ZCM4_%7C_Q6ZUB4_%7C_Q96M71|Q5TIE3||extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20695831 rs1886740 T C . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20695831|20695831|LINCRNA||SNP|T|T|C|g.chr1:20695831T>C|ENST00000426428.1|-|||c.e10-4257A>G|||0.5511221945137157|CCCCAGTGAGTGGGAGCCAGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20701277 rs10159448 C T . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20701277|20701277|LINCRNA||SNP|C|C|T|g.chr1:20701277C>T|ENST00000426428.1|-|||c.e10+1046G>A|||0.38154613466334164|GTTGTATTCTCCAAGGACAAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20705117 rs10916779 C T . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20705117|20705117|LINCRNA||SNP|C|C|T|g.chr1:20705117C>T|ENST00000426428.1|-|||c.e8+192G>A|||0.48129675810473815|CAAGAACCACCGCATCCCCAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20717763 exm2250514 C A . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20717763|20717763|LINCRNA||SNP|C|C|A|g.chr1:20717763C>A|ENST00000426428.1|-|||c.e6-7213G>T|||0.48877805486284287|GTTACCCAGCCCTAAACCCAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20729212 rs879484 T C . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20729212|20729212|LINCRNA||SNP|T|T|C|g.chr1:20729212T>C|ENST00000426428.1|-|||c.e4+1732A>G|||0.49625935162094764|AGTCAGGAAGTATGCCCCTTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20733376 rs10753498 T C . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20733376|20733376|LINCRNA||SNP|T|T|C|g.chr1:20733376T>C|ENST00000426428.1|-|||c.e2+614A>G|||0.4837905236907731|AAATCTAAGATTCGACCCCTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20735361 rs7533344 G A . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20735361|20735361|LINCRNA||SNP|G|G|A|g.chr1:20735361G>A|ENST00000426428.1|-|||c.e2+2599C>T|||0.4513715710723192|GAAAACTCTCGGCAAACTCTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20735452 rs6426635 G A . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20735452|20735452|LINCRNA||SNP|G|G|A|g.chr1:20735452G>A|ENST00000426428.1|-|||c.e2+2690C>T|||0.43640897755610975|ACCAGGAAGGGCAAAGGTTAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20736532 rs10916790 C T . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20736532|20736532|LINCRNA||SNP|C|C|T|g.chr1:20736532C>T|ENST00000426428.1|-|||c.e2+3770G>A|||0.4912718204488778|AACCAACCATCGGAGGGACAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20740016 rs10799633 C A . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20740016|20740016|LINCRNA||SNP|C|C|A|g.chr1:20740016C>A|ENST00000426428.1|-|||c.e2+7254G>T|||0.5486284289276808|CAGACGGCATCACAGAGGGAA|RP4-749H3.2_ENST00000421114.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20750561 rs7537381 A G . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20750561|20750561|LINCRNA||SNP|A|A|G|g.chr1:20750561A>G|ENST00000426428.1|-|||c.e1-4516T>C|||0.30673316708229426|AGTAAACGAAAAAGATAATAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20826910 rs529974 G A . PASS FUNCOTATION=[MUL1|hg19|chr1|20826910|20826910|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:20826910G>A|ENST00000264198.3|-|4|||||0.5635910224438903|AGTCACACTCGCACTGATCTG||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||EU935008|NM_024544.2|NP_078820.2|HGNC:25762|mitochondrial_%20_E3_%20_ubiquitin_%20_protein_%20_ligase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf166|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_166"|FLJ12875_%2C__%20_MULAN_%2C__%20_RNF218_%2C__%20_MAPL_%2C__%20_GIDE|"ring_%20_finger_%20_protein_%20_218"_%2C__%20_"mitochondria-anchored_%20_protein_%20_ligase"_%2C__%20_"growth_%20_inhibition_%20_and_%20_death_%20_E3_%20_ligase"_%2C__%20_"mitochondrial_%20_ubiquitin_%20_ligase_%20_activator_%20_of_%20_NFKB_%20_1"|1p36.12|2014-11-18|2008-03-26|2010-09-17|BC014010||79594|ENSG00000090432|18591963_%2C__%20_12761501_%2C__%20_18213395_%2C__%20_18207745|NM_024544|58|Ring_%20_finger_%20_proteins|CCDS208|OTTHUMG00000002838|79594|612037|NM_024544|Q969V5|ENSG00000090432|uc001bdi.5|MUL1_HUMAN||B5M497_%7C_Q7Z431_%7C_Q9H9B5|Q969V5|activation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_(GO:0006919)_%7C_activation_%20_of_%20_JUN_%20_kinase_%20_activity_%20_(GO:0007257)_%7C_cellular_%20_response_%20_to_%20_exogenous_%20_dsRNA_%20_(GO:0071360)_%7C_mitochondrial_%20_fission_%20_(GO:0000266)_%7C_mitochondrion_%20_localization_%20_(GO:0051646)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_chemokine_%20_(C-C_%20_motif)_%20_ligand_%20_5_%20_production_%20_(GO:0071650)_%7C_negative_%20_regulation_%20_of_%20_defense_%20_response_%20_to_%20_virus_%20_by_%20_host_%20_(GO:0050689)_%7C_negative_%20_regulation_%20_of_%20_innate_%20_immune_%20_response_%20_(GO:0045824)_%7C_negative_%20_regulation_%20_of_%20_mitochondrial_%20_fusion_%20_(GO:0010637)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051898)_%7C_negative_%20_regulation_%20_of_%20_type_%20_I_%20_interferon-mediated_%20_signaling_%20_pathway_%20_(GO:0060339)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_positive_%20_regulation_%20_of_%20_mitochondrial_%20_fission_%20_(GO:0090141)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_sumoylation_%20_(GO:0033235)_%7C_protein_%20_stabilization_%20_(GO:0050821)_%7C_protein_%20_sumoylation_%20_(GO:0016925)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)_%7C_regulation_%20_of_%20_mitochondrial_%20_outer_%20_membrane_%20_permeabilization_%20_involved_%20_in_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1901028)|cytoplasm_%20_(GO:0005737)_%7C_integral_%20_component_%20_of_%20_mitochondrial_%20_outer_%20_membrane_%20_(GO:0031307)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)_%7C_peroxisome_%20_(GO:0005777)|identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)_%7C_SUMO_%20_ligase_%20_activity_%20_(GO:0019789)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20915507 kgp25087902 G A . PASS FUNCOTATION=[CDA|hg19|chr1|20915507|20915507|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:20915507G>A|ENST00000375071.3|+|1|||||0.6184538653366584|GAGAGCCTGCGGTCTGGCTGC|CDA_ENST00000461985.1_FIVE_PRIME_FLANK|Pancreas(74_%3B_49_%20_1356_%20_2772_%20_27818_%20_40529)||||||||||||||||||||||||754|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(664)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||S52873|NM_001785.2|NP_001776.1|HGNC:1712|cytidine_%20_deaminase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CDD||1p36.12|2016-10-05|||BC054036|3.5.4.5|978|ENSG00000158825|8422236_%2C__%20_9878810|NM_001785|||CCDS210|OTTHUMG00000002845|978|123920|NM_001785|P32320|ENSG00000158825|uc001bdk.4|CDD_HUMAN|Azacitidine(DB00928)_%7C_Capecitabine(DB01101)_%7C_Cytarabine(DB00987)_%7C_Gemcitabine(DB00441)||P32320|cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007166)_%7C_cytidine_%20_deamination_%20_(GO:0009972)_%7C_cytosine_%20_metabolic_%20_process_%20_(GO:0019858)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_nucleotide_%20_metabolic_%20_process_%20_(GO:0045980)_%7C_nucleobase-containing_%20_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0055086)_%7C_protein_%20_homotetramerization_%20_(GO:0051289)_%7C_pyrimidine_%20_nucleobase_%20_metabolic_%20_process_%20_(GO:0006206)_%7C_pyrimidine_%20_nucleoside_%20_salvage_%20_(GO:0043097)_%7C_pyrimidine-containing_%20_compound_%20_salvage_%20_(GO:0008655)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|cytidine_%20_deaminase_%20_activity_%20_(GO:0004126)_%7C_nucleoside_%20_binding_%20_(GO:0001882)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20915577 kgp25241726 G A . PASS FUNCOTATION=[CDA|hg19|chr1|20915577|20915577|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:20915577G>A|ENST00000375071.3|+|1|||||0.6159600997506235|CAGGCTGGCCGGAGCTCCTGT|CDA_ENST00000461985.1_FIVE_PRIME_FLANK|Pancreas(74_%3B_49_%20_1356_%20_2772_%20_27818_%20_40529)||||||||||||||||||||||||754|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(664)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||S52873|NM_001785.2|NP_001776.1|HGNC:1712|cytidine_%20_deaminase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CDD||1p36.12|2016-10-05|||BC054036|3.5.4.5|978|ENSG00000158825|8422236_%2C__%20_9878810|NM_001785|||CCDS210|OTTHUMG00000002845|978|123920|NM_001785|P32320|ENSG00000158825|uc001bdk.4|CDD_HUMAN|Azacitidine(DB00928)_%7C_Capecitabine(DB01101)_%7C_Cytarabine(DB00987)_%7C_Gemcitabine(DB00441)||P32320|cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007166)_%7C_cytidine_%20_deamination_%20_(GO:0009972)_%7C_cytosine_%20_metabolic_%20_process_%20_(GO:0019858)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_nucleotide_%20_metabolic_%20_process_%20_(GO:0045980)_%7C_nucleobase-containing_%20_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0055086)_%7C_protein_%20_homotetramerization_%20_(GO:0051289)_%7C_pyrimidine_%20_nucleobase_%20_metabolic_%20_process_%20_(GO:0006206)_%7C_pyrimidine_%20_nucleoside_%20_salvage_%20_(GO:0043097)_%7C_pyrimidine-containing_%20_compound_%20_salvage_%20_(GO:0008655)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|cytidine_%20_deaminase_%20_activity_%20_(GO:0004126)_%7C_nucleoside_%20_binding_%20_(GO:0001882)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20915590 kgp5980907 C T . PASS FUNCOTATION=[CDA|hg19|chr1|20915590|20915590|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:20915590C>T|ENST00000375071.3|+|1|||||0.6159600997506235|GCTCCTGTTTCCCGCTGCTCT|CDA_ENST00000461985.1_INTRON|Pancreas(74_%3B_49_%20_1356_%20_2772_%20_27818_%20_40529)||||||||||||||||||||||||754|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(664)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||S52873|NM_001785.2|NP_001776.1|HGNC:1712|cytidine_%20_deaminase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CDD||1p36.12|2016-10-05|||BC054036|3.5.4.5|978|ENSG00000158825|8422236_%2C__%20_9878810|NM_001785|||CCDS210|OTTHUMG00000002845|978|123920|NM_001785|P32320|ENSG00000158825|uc001bdk.4|CDD_HUMAN|Azacitidine(DB00928)_%7C_Capecitabine(DB01101)_%7C_Cytarabine(DB00987)_%7C_Gemcitabine(DB00441)||P32320|cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007166)_%7C_cytidine_%20_deamination_%20_(GO:0009972)_%7C_cytosine_%20_metabolic_%20_process_%20_(GO:0019858)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_nucleotide_%20_metabolic_%20_process_%20_(GO:0045980)_%7C_nucleobase-containing_%20_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0055086)_%7C_protein_%20_homotetramerization_%20_(GO:0051289)_%7C_pyrimidine_%20_nucleobase_%20_metabolic_%20_process_%20_(GO:0006206)_%7C_pyrimidine_%20_nucleoside_%20_salvage_%20_(GO:0043097)_%7C_pyrimidine-containing_%20_compound_%20_salvage_%20_(GO:0008655)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|cytidine_%20_deaminase_%20_activity_%20_(GO:0004126)_%7C_nucleoside_%20_binding_%20_(GO:0001882)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20945251 GA000375 C G . PASS FUNCOTATION=[CDA|hg19|chr1|20945251|20945251|THREE_PRIME_UTR||SNP|C|C|G|g.chr1:20945251C>G|ENST00000375071.3|+|4|||||0.5411471321695761|AGAACACCGCCGCCCCCTGCC|CDA_ENST00000461985.1_INTRON|Pancreas(74_%3B_49_%20_1356_%20_2772_%20_27818_%20_40529)||||||||||||||||||||||||754|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(664)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||S52873|NM_001785.2|NP_001776.1|HGNC:1712|cytidine_%20_deaminase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CDD||1p36.12|2016-10-05|||BC054036|3.5.4.5|978|ENSG00000158825|8422236_%2C__%20_9878810|NM_001785|||CCDS210|OTTHUMG00000002845|978|123920|NM_001785|P32320|ENSG00000158825|uc001bdk.4|CDD_HUMAN|Azacitidine(DB00928)_%7C_Capecitabine(DB01101)_%7C_Cytarabine(DB00987)_%7C_Gemcitabine(DB00441)||P32320|cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007166)_%7C_cytidine_%20_deamination_%20_(GO:0009972)_%7C_cytosine_%20_metabolic_%20_process_%20_(GO:0019858)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_nucleotide_%20_metabolic_%20_process_%20_(GO:0045980)_%7C_nucleobase-containing_%20_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0055086)_%7C_protein_%20_homotetramerization_%20_(GO:0051289)_%7C_pyrimidine_%20_nucleobase_%20_metabolic_%20_process_%20_(GO:0006206)_%7C_pyrimidine_%20_nucleoside_%20_salvage_%20_(GO:0043097)_%7C_pyrimidine-containing_%20_compound_%20_salvage_%20_(GO:0008655)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|cytidine_%20_deaminase_%20_activity_%20_(GO:0004126)_%7C_nucleoside_%20_binding_%20_(GO:0001882)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20945252 GA018656 G C . PASS FUNCOTATION=[CDA|hg19|chr1|20945252|20945252|THREE_PRIME_UTR||SNP|G|G|C|g.chr1:20945252G>C|ENST00000375071.3|+|4|||||0.5411471321695761|GAACACCGCCGCCCCCTGCCC|CDA_ENST00000461985.1_INTRON|Pancreas(74_%3B_49_%20_1356_%20_2772_%20_27818_%20_40529)||||||||||||||||||||||||754|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(664)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||S52873|NM_001785.2|NP_001776.1|HGNC:1712|cytidine_%20_deaminase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CDD||1p36.12|2016-10-05|||BC054036|3.5.4.5|978|ENSG00000158825|8422236_%2C__%20_9878810|NM_001785|||CCDS210|OTTHUMG00000002845|978|123920|NM_001785|P32320|ENSG00000158825|uc001bdk.4|CDD_HUMAN|Azacitidine(DB00928)_%7C_Capecitabine(DB01101)_%7C_Cytarabine(DB00987)_%7C_Gemcitabine(DB00441)||P32320|cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007166)_%7C_cytidine_%20_deamination_%20_(GO:0009972)_%7C_cytosine_%20_metabolic_%20_process_%20_(GO:0019858)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_nucleotide_%20_metabolic_%20_process_%20_(GO:0045980)_%7C_nucleobase-containing_%20_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0055086)_%7C_protein_%20_homotetramerization_%20_(GO:0051289)_%7C_pyrimidine_%20_nucleobase_%20_metabolic_%20_process_%20_(GO:0006206)_%7C_pyrimidine_%20_nucleoside_%20_salvage_%20_(GO:0043097)_%7C_pyrimidine-containing_%20_compound_%20_salvage_%20_(GO:0008655)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|cytidine_%20_deaminase_%20_activity_%20_(GO:0004126)_%7C_nucleoside_%20_binding_%20_(GO:0001882)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20976994 indel.1467 TG T . PASS FUNCOTATION=[PINK1|hg19|chr1|20976995|20976995|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:20976995delG|ENST00000321556.4|+|8|1650|c.1557delG|c.(1555-1557)ctgfs|p.K520fs|0.5112219451371571|TTCTAGCCCTGAAGAATCTGA|PINK1-AS_ENST00000451424.1_RNA/PINK1_ENST00000492302.1_INTRON|Esophageal_%20_Squamous(145_%3B_853_%20_1803_%20_8146_%20_34412_%20_35011)||||||||||||||||||||||||521|biliary_tract(2)_%7C_breast(27)_%7C_central_nervous_system(102)_%7C_haematopoietic_and_lymphoid_tissue(54)_%7C_kidney(46)_%7C_large_intestine(71)_%7C_lung(53)_%7C_ovary(52)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||BC028215|NM_032409.2|NP_115785.1|HGNC:14581|PTEN_%20_induced_%20_putative_%20_kinase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PARK6|"Parkinson_%20_disease_%20_(autosomal_%20_recessive)_%20_6"|||1p36.12|2014-11-18|||AB053323||65018|ENSG00000158828|11494141_%2C__%20_15349860|NM_032409|672|Parkinson_%20_disease_%20_associated_%20_genes|CCDS211|OTTHUMG00000002841|65018|608309|NM_032409|Q9BXM7|ENSG00000158828|uc001bdm.3|PINK1_HUMAN||Q8N6T9_%7C_Q8NBU3_%7C_Q96DE4|Q9BXM7|activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_cell_%20_death_%20_(GO:0008219)_%7C_cellular_%20_response_%20_to_%20_hypoxia_%20_(GO:0071456)_%7C_cellular_%20_response_%20_to_%20_toxic_%20_substance_%20_(GO:0097237)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_mitochondrion_%20_degradation_%20_(GO:0000422)_%7C_mitochondrion_%20_organization_%20_(GO:0007005)_%7C_negative_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0010629)_%7C_negative_%20_regulation_%20_of_%20_hydrogen_%20_peroxide-induced_%20_neuron_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1903384)_%7C_negative_%20_regulation_%20_of_%20_JNK_%20_cascade_%20_(GO:0046329)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_cell_%20_death_%20_(GO:1903202)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1902176)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_neuron_%20_death_%20_(GO:1903204)_%7C_negative_%20_regulation_%20_of_%20_reactive_%20_oxygen_%20_species_%20_metabolic_%20_process_%20_(GO:2000378)_%7C_peptidyl-serine_%20_autophosphorylation_%20_(GO:0036289)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_phosphorylation_%20_(GO:0016310)_%7C_positive_%20_regulation_%20_of_%20_dopamine_%20_secretion_%20_(GO:0033603)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_positive_%20_regulation_%20_of_%20_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:1902958)_%7C_positive_%20_regulation_%20_of_%20_peptidase_%20_activity_%20_(GO:0010952)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051897)_%7C_positive_%20_regulation_%20_of_%20_release_%20_of_%20_cytochrome_%20_c_%20_from_%20_mitochondria_%20_(GO:0090200)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_transmission_%2C__%20_dopaminergic_%20_(GO:0032226)_%7C_positive_%20_regulation_%20_of_%20_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0051443)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)_%7C_regulation_%20_of_%20_mitochondrial_%20_membrane_%20_potential_%20_(GO:0051881)_%7C_regulation_%20_of_%20_mitochondrion_%20_degradation_%20_(GO:1903146)_%7C_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0043254)_%7C_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031396)_%7C_regulation_%20_of_%20_reactive_%20_oxygen_%20_species_%20_metabolic_%20_process_%20_(GO:2000377)_%7C_regulation_%20_of_%20_synaptic_%20_vesicle_%20_transport_%20_(GO:1902803)_%7C_response_%20_to_%20_oxidative_%20_stress_%20_(GO:0006979)_%7C_response_%20_to_%20_stress_%20_(GO:0006950)_%7C_TORC2_%20_signaling_%20_(GO:0038203)_%7C_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0006511)|astrocyte_%20_projection_%20_(GO:0097449)_%7C_axon_%20_(GO:0030424)_%7C_cell_%20_body_%20_(GO:0044297)_%7C_chromatin_%20_(GO:0000785)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_cytosol_%20_(GO:0005829)_%7C_integral_%20_component_%20_of_%20_mitochondrial_%20_outer_%20_membrane_%20_(GO:0031307)_%7C_Lewy_%20_body_%20_(GO:0097413)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_intermembrane_%20_space_%20_(GO:0005758)_%7C_mitochondrial_%20_outer_%20_membrane_%20_(GO:0005741)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)|ATP_%20_binding_%20_(GO:0005524)_%7C_C3HC4-type_%20_RING_%20_finger_%20_domain_%20_binding_%20_(GO:0055131)_%7C_calcium-dependent_%20_protein_%20_kinase_%20_activity_%20_(GO:0010857)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_magnesium_%20_ion_%20_binding_%20_(GO:0000287)_%7C_peptidase_%20_activator_%20_activity_%20_(GO:0016504)_%7C_protease_%20_binding_%20_(GO:0002020)_%7C_protein_%20_kinase_%20_B_%20_binding_%20_(GO:0043422)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20978058 exm2264808 G A . PASS FUNCOTATION=[PINK1-AS|hg19|chr1|20978058|20978058|RNA||SNP|G|G|A|g.chr1:20978058G>A|ENST00000451424.1|-|||c.e1-628C>T|||0.4239401496259352|CCATTTCAGTGATTCCCACCC|||||||||||||||||||||||||||||||||||||HGNC:38872|PINK1_%20_antisense_%20_RNA|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|PINK1-AS1|"PINK1_%20_antisense_%20_RNA_%20_1_%20_(non-protein_%20_coding)"_%2C__%20_"PINK1_%20_antisense_%20_RNA_%20_(non-protein_%20_coding)"|FLJ00387_%2C__%20_PINK1AS_%2C__%20_naPINK1||1p36.12|2014-09-24|2012-02-02|2012-08-15|AK090466|||ENSG00000117242|17362513||788|Long_%20_non-coding_%20_RNAs_%20_(published)||OTTHUMG00000002840|100861548||NR_046507||ENSG00000117242|uc031tru.1|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20978058 rs650616 G A . PASS FUNCOTATION=[PINK1-AS|hg19|chr1|20978058|20978058|RNA||SNP|G|G|A|g.chr1:20978058G>A|ENST00000451424.1|-|||c.e1-628C>T|||0.4239401496259352|CCATTTCAGTGATTCCCACCC|||||||||||||||||||||||||||||||||||||HGNC:38872|PINK1_%20_antisense_%20_RNA|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|PINK1-AS1|"PINK1_%20_antisense_%20_RNA_%20_1_%20_(non-protein_%20_coding)"_%2C__%20_"PINK1_%20_antisense_%20_RNA_%20_(non-protein_%20_coding)"|FLJ00387_%2C__%20_PINK1AS_%2C__%20_naPINK1||1p36.12|2014-09-24|2012-02-02|2012-08-15|AK090466|||ENSG00000117242|17362513||788|Long_%20_non-coding_%20_RNAs_%20_(published)||OTTHUMG00000002840|100861548||NR_046507||ENSG00000117242|uc031tru.1|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20987879 exm27256 A C . PASS FUNCOTATION=[DDOST|hg19|chr1|20987879|20987879|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:20987879A>C|ENST00000602624.2|-|1|||||0.6508728179551122|GCACGTGCACACCGGAAGTAC|DDOST_ENST00000375048.3_MISSENSE_p.C6G/DDOST_ENST00000415136.2_MISSENSE_p.C6G/DDOST_ENST00000477229.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||D89060|||HGNC:2728|dolichyl-diphosphooligosaccharide--protein_%20_glycosyltransferase_%20_non-catalytic_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dolichyl-diphosphooligosaccharide-protein_%20_glycosyltransferase"|OST_%2C__%20_KIAA0115_%2C__%20_OST48_%2C__%20_WBP1_%2C__%20_GATD6|"oligosaccharyltransferase_%20_subunit_%20_48"_%2C__%20_"advanced_%20_glycation_%20_end-product_%20_receptor_%20_1"|1p36.12|2017-03-16||2016-03-01|D29643||1650|ENSG00000244038|9367678|NM_005216|445_%7C_1408|Oligosaccharyltransferase_%20_complex_%20_subunits_%7C_Glutamine_%20_amidotransferase_%20_like_%20_class_%20_1_%20_domain_%20_containing|CCDS212|OTTHUMG00000002844|1650|602202|NM_005216|P39656|ENSG00000244038|uc001bdo.1|OST48_HUMAN||B2RDQ4_%7C_B4DJE3_%7C_B4DLI2_%7C_O43244_%7C_Q5VWA5_%7C_Q8NI93_%7C_Q9BUI2|P39656|cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)_%7C_protein_%20_glycosylation_%20_(GO:0006486)_%7C_protein_%20_N-linked_%20_glycosylation_%20_(GO:0006487)_%7C_protein_%20_N-linked_%20_glycosylation_%20_via_%20_asparagine_%20_(GO:0018279)_%7C_response_%20_to_%20_cytokine_%20_(GO:0034097)_%7C_SRP-dependent_%20_cotranslational_%20_protein_%20_targeting_%20_to_%20_membrane_%20_(GO:0006614)_%7C_T_%20_cell_%20_activation_%20_(GO:0042110)_%7C_translation_%20_(GO:0006412)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_membrane_%20_(GO:0016020)_%7C_oligosaccharyltransferase_%20_complex_%20_(GO:0008250)_%7C_protein_%20_complex_%20_(GO:0043234)|dolichyl-diphosphooligosaccharide-protein_%20_glycotransferase_%20_activity_%20_(GO:0004579)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 20998552 indel.1474 CAG C . PASS FUNCOTATION=[KIF17|hg19|chr1|20998553|20998554|FRAME_SHIFT_DEL||DEL|AG|AG|-|g.chr1:20998553_20998554delAG|ENST00000247986.2|-|12|2912_2913|c.2599_2600delCT|c.(2599-2601)ctgfs|p.L867fs|0.5696517412935324|CCTGCGAATCAGGGGCTGCACC|KIF17_ENST00000400463.3_FRAME_SHIFT_DEL_p.L867fs/KIF17_ENST00000375044.1_FRAME_SHIFT_DEL_p.L767fs/KIF17_ENST00000490034.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||BC065927|||HGNC:19167|kinesin_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA1405_%2C__%20_KIF3X_%2C__%20_KIF17B_%2C__%20_OSM-3_%2C__%20_KLP-2|"kinesin-like_%20_protein_%20_KIF17"_%2C__%20_"KIF3-related_%20_motor_%20_protein"_%2C__%20_"KIF17_%20_variant_%20_protein"|1p36.12|2016-10-05|||AB037826||57576|ENSG00000117245|10846156|NM_020816|622|Kinesins|CCDS213_%2C__%20_CCDS44079_%2C__%20_CCDS72722|OTTHUMG00000002863|57576|605037|NM_001122819|Q9P2E2|ENSG00000117245|uc001bdr.6|KIF17_HUMAN||A2A3Q7_%7C_A2A3Q8_%7C_O95077_%7C_Q53YS6_%7C_Q5VWA9_%7C_Q6GSA8_%7C_Q8N411|Q9P2E2|ATP_%20_catabolic_%20_process_%20_(GO:0006200)_%7C_cell_%20_projection_%20_organization_%20_(GO:0030030)_%7C_metabolic_%20_process_%20_(GO:0008152)_%7C_microtubule-based_%20_movement_%20_(GO:0007018)_%7C_neurogenesis_%20_(GO:0022008)_%7C_protein_%20_complex_%20_localization_%20_(GO:0031503)_%7C_protein_%20_transport_%20_(GO:0015031)_%7C_vesicle-mediated_%20_transport_%20_(GO:0016192)|cytoplasm_%20_(GO:0005737)_%7C_intraciliary_%20_transport_%20_particle_%20_B_%20_(GO:0030992)_%7C_kinesin_%20_complex_%20_(GO:0005871)_%7C_microtubule_%20_(GO:0005874)|ATP_%20_binding_%20_(GO:0005524)_%7C_ATPase_%20_activity_%20_(GO:0016887)_%7C_plus-end-directed_%20_microtubule_%20_motor_%20_activity_%20_(GO:0008574)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 21047725 rs659046 A G . PASS FUNCOTATION=[SH2D5|hg19|chr1|21047725|21047725|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:21047725A>G|ENST00000375031.1|-|9|||||0.5810473815461347|TCAGATACATATGAGAAACAG|KIF17_ENST00000247986.2_FIVE_PRIME_FLANK/KIF17_ENST00000375044.1_FIVE_PRIME_FLANK/KIF17_ENST00000400463.3_FIVE_PRIME_FLANK/SH2D5_ENST00000460804.1_INTRON|||||||||||||||||||||||||136|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_pancreas(22)|||||||CH471134|NM_001103160.1|NP_001096630.1|HGNC:28819|SH2_%20_domain_%20_containing_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.12|2014-11-19|||AK124869_%2C__%20_AK123236||400745|ENSG00000189410||XM_375698|||CCDS41280_%2C__%20_CCDS44080|OTTHUMG00000002620|400745||NM_001103160|Q6ZV89|ENSG00000189410|uc009vpy.2|SH2D5_HUMAN||B7Z3W3_%7C_Q5SSJ2|Q6ZV89|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 21544601 rs3026913 C T . PASS FUNCOTATION=[ECE1|hg19|chr1|21544601|21544601|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:21544601C>T|ENST00000415912.2|-|19|||||0.6184538653366584|GAGTCTGCTACTGGAGAAGCT||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(1)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||Z35307|NM_001113348.1|NP_001106819.1|HGNC:3146|endothelin_%20_converting_%20_enzyme_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ECE||||1p36.12|2016-10-05|||D49471||1889|ENSG00000117298|7805846_%2C__%20_7864876_%2C__%20_17592116|NM_001397|1439|M13_%20_metallopeptidases|CCDS215_%2C__%20_CCDS44081_%2C__%20_CCDS44082_%2C__%20_CCDS44083|OTTHUMG00000002625|1889|600423|NM_001113347|P42892|ENSG00000117298|uc001bek.3|ECE1_HUMAN||A8K3P1_%7C_B4E291_%7C_Q14217_%7C_Q17RN5_%7C_Q2Z2K8_%7C_Q58GE7_%7C_Q5THM5_%7C_Q5THM7_%7C_Q5THM8_%7C_Q9UJQ6_%7C_Q9UPF4_%7C_Q9UPM4_%7C_Q9Y501|P42892|bradykinin_%20_catabolic_%20_process_%20_(GO:0010815)_%7C_calcitonin_%20_catabolic_%20_process_%20_(GO:0010816)_%7C_ear_%20_development_%20_(GO:0043583)_%7C_embryonic_%20_digit_%20_morphogenesis_%20_(GO:0042733)_%7C_endothelin_%20_maturation_%20_(GO:0034959)_%7C_heart_%20_development_%20_(GO:0007507)_%7C_hormone_%20_catabolic_%20_process_%20_(GO:0042447)_%7C_peptide_%20_hormone_%20_processing_%20_(GO:0016486)_%7C_pharyngeal_%20_system_%20_development_%20_(GO:0060037)_%7C_positive_%20_regulation_%20_of_%20_receptor_%20_recycling_%20_(GO:0001921)_%7C_protein_%20_processing_%20_(GO:0016485)_%7C_regulation_%20_of_%20_systemic_%20_arterial_%20_blood_%20_pressure_%20_by_%20_endothelin_%20_(GO:0003100)_%7C_regulation_%20_of_%20_vasoconstriction_%20_(GO:0019229)_%7C_substance_%20_P_%20_catabolic_%20_process_%20_(GO:0010814)|early_%20_endosome_%20_(GO:0005769)_%7C_endosome_%20_(GO:0005768)_%7C_external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intrinsic_%20_component_%20_of_%20_endosome_%20_membrane_%20_(GO:0031302)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_membrane_%20_(GO:0016020)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)_%7C_Weibel-Palade_%20_body_%20_(GO:0033093)|endopeptidase_%20_activity_%20_(GO:0004175)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_peptide_%20_hormone_%20_binding_%20_(GO:0017046)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 21742614 rs10916982 T C . PASS FUNCOTATION=[RP11-293F5.1|hg19|chr1|21742614|21742614|LINCRNA||SNP|T|T|C|g.chr1:21742614T>C|ENST00000444647.1|+|||c.e1+186T>C|||0.5311720698254364|CCCTGAGAGATCCCAACAGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 21771685 variant.1499 C T . PASS FUNCOTATION=[NBPF3|hg19|chr1|21771685|21771685|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:21771685C>T|ENST00000318220.6|+|2|||||0.5211970074812967|TGGTGTGGGCCGACATCAAGA|NBPF3_ENST00000342104.5_NONSENSE_p.R36*/NBPF3_ENST00000318249.5_NONSENSE_p.R36*/NBPF3_ENST00000454000.2_NONSENSE_p.R36*/NBPF3_ENST00000478653.2_INTRON|||||||||||||||||||||||||211|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||BC024011|||HGNC:25076|NBPF_%20_member_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"neuroblastoma_%20_breakpoint_%20_family_%2C__%20_member_%20_3"|AE2||1p36.12|2017-03-01||2017-03-01|BC024011||84224|ENSG00000142794|11230166_%2C__%20_16079250|NM_032264|662|NBPF_%20_members|CCDS216_%2C__%20_CCDS57976_%2C__%20_CCDS57977_%2C__%20_CCDS81275|OTTHUMG00000002944|84224|612992|NM_001256416|Q9H094|ENSG00000142794|uc001ber.5|NBPF3_HUMAN||A8K965_%7C_B4DSP2_%7C_I3L0I8_%7C_Q3BBW1_%7C_Q5VTG2_%7C_Q5VTG3_%7C_Q5VTG4_%7C_Q8IX78_%7C_Q8ND86_%7C_Q8TC96|Q9H094||cytoplasm_%20_(GO:0005737)|||||true|false||false|false|||false|false|false|NBPF3:84224|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|758505231|21771685|false|false|0|false|0|false||false|false|true|SNV|false|0x050000400605000002000100|1|false|144|rs758505231|] -chr1 21795274 indel.1502 TC T . PASS FUNCOTATION=[NBPF3|hg19|chr1|21795275|21795275|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:21795275delC|ENST00000318220.6|+|6|1107|c.60delC|c.(58-60)atcfs|p.N21fs|0.45885286783042395|TTCTAGAAATCAACAAGAAAT|NBPF3_ENST00000342104.5_FRAME_SHIFT_DEL_p.N77fs/NBPF3_ENST00000318249.5_FRAME_SHIFT_DEL_p.N77fs/NBPF3_ENST00000454000.2_INTRON|||||||||||||||||||||||||211|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||BC024011|||HGNC:25076|NBPF_%20_member_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"neuroblastoma_%20_breakpoint_%20_family_%2C__%20_member_%20_3"|AE2||1p36.12|2017-03-01||2017-03-01|BC024011||84224|ENSG00000142794|11230166_%2C__%20_16079250|NM_032264|662|NBPF_%20_members|CCDS216_%2C__%20_CCDS57976_%2C__%20_CCDS57977_%2C__%20_CCDS81275|OTTHUMG00000002944|84224|612992|NM_001256416|Q9H094|ENSG00000142794|uc001ber.5|NBPF3_HUMAN||A8K965_%7C_B4DSP2_%7C_I3L0I8_%7C_Q3BBW1_%7C_Q5VTG2_%7C_Q5VTG3_%7C_Q5VTG4_%7C_Q8IX78_%7C_Q8ND86_%7C_Q8TC96|Q9H094||cytoplasm_%20_(GO:0005737)|||||true|false||false|false|||false|false|false|NBPF3:84224|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|747818094|21795275|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|DIV|true|0x050000081205040402000200|1|false|144|rs747818094|] -chr1 21800057 indel.1508 G GC . PASS FUNCOTATION=[NBPF3|hg19|chr1|21800057|21800058|FRAME_SHIFT_INS||INS|-|-|C|g.chr1:21800057_21800058insC|ENST00000318220.6|+|10|1799|c.751_752insC|c.(751-753)gatfs|p.D251fs|0.4525|GAATGGTTGGATGCTGTATG|NBPF3_ENST00000342104.5_FRAME_SHIFT_INS_p.D307fs/NBPF3_ENST00000318249.5_FRAME_SHIFT_INS_p.D307fs/NBPF3_ENST00000454000.2_FRAME_SHIFT_INS_p.D237fs|||||||||||||||||||||||||211|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||BC024011|||HGNC:25076|NBPF_%20_member_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"neuroblastoma_%20_breakpoint_%20_family_%2C__%20_member_%20_3"|AE2||1p36.12|2017-03-01||2017-03-01|BC024011||84224|ENSG00000142794|11230166_%2C__%20_16079250|NM_032264|662|NBPF_%20_members|CCDS216_%2C__%20_CCDS57976_%2C__%20_CCDS57977_%2C__%20_CCDS81275|OTTHUMG00000002944|84224|612992|NM_001256416|Q9H094|ENSG00000142794|uc001ber.5|NBPF3_HUMAN||A8K965_%7C_B4DSP2_%7C_I3L0I8_%7C_Q3BBW1_%7C_Q5VTG2_%7C_Q5VTG3_%7C_Q5VTG4_%7C_Q8IX78_%7C_Q8ND86_%7C_Q8TC96|Q9H094||cytoplasm_%20_(GO:0005737)|||||true|false||false|false|||false|false|false|NBPF3:84224|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|747645859|21800057|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs747645859|] -chr1 21894604 indel.1522 TG T . PASS FUNCOTATION=[ALPL|hg19|chr1|21894605|21894605|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:21894605delG|ENST00000374840.3|+|7|906|c.657delG|c.(655-657)atgfs|p.G221fs|0.5685785536159601|AGGTGATCATGGGGGGTGGCC|ALPL_ENST00000374832.1_FRAME_SHIFT_DEL_p.G221fs/ALPL_ENST00000425315.2_FRAME_SHIFT_DEL_p.G221fs/ALPL_ENST00000540617.1_FRAME_SHIFT_DEL_p.G166fs/ALPL_ENST00000539907.1_FRAME_SHIFT_DEL_p.G144fs/ALPL_ENST00000374830.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(45)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X14174|NM_000478.4|NP_000469.3|HGNC:438|alkaline_%20_phosphatase_%2C__%20_liver/bone/kidney|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HOPS||TNSALP||1p36.12|2014-11-18|||BC021289|3.1.3.1|249|ENSG00000162551|3532105_%2C__%20_3446011|NM_000478|1072|Alkaline_%20_phosphatases|CCDS217_%2C__%20_CCDS53274_%2C__%20_CCDS53275|OTTHUMG00000002949|249|171760|NM_000478|P05186|ENSG00000162551|uc001bet.4|PPBT_HUMAN|Amifostine(DB01143)_%7C_Fospropofol(DB06716)|A1A4E7_%7C_B2RMP8_%7C_B7Z387_%7C_B7Z4Y6_%7C_O75090_%7C_Q2TAI7_%7C_Q59EJ7_%7C_Q5BKZ5_%7C_Q5VTG5_%7C_Q6NZI8_%7C_Q8WU32_%7C_Q9UBK0|P05186|cellular_%20_response_%20_to_%20_organic_%20_cyclic_%20_compound_%20_(GO:0071407)_%7C_cementum_%20_mineralization_%20_(GO:0071529)_%7C_developmental_%20_process_%20_involved_%20_in_%20_reproduction_%20_(GO:0003006)_%7C_endochondral_%20_ossification_%20_(GO:0001958)_%7C_osteoblast_%20_differentiation_%20_(GO:0001649)_%7C_response_%20_to_%20_antibiotic_%20_(GO:0046677)_%7C_response_%20_to_%20_glucocorticoid_%20_(GO:0051384)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)_%7C_response_%20_to_%20_vitamin_%20_D_%20_(GO:0033280)_%7C_skeletal_%20_system_%20_development_%20_(GO:0001501)|anchored_%20_component_%20_of_%20_membrane_%20_(GO:0031225)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|alkaline_%20_phosphatase_%20_activity_%20_(GO:0004035)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_pyrophosphatase_%20_activity_%20_(GO:0016462)||||true|false||false|false|||false|false|false|ALPL:249|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|769948289|21894605|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs769948289|] -chr1 21914362 rs1256279 C T . PASS FUNCOTATION=[RP11-63N8.3|hg19|chr1|21914362|21914362|RNA||SNP|C|C|T|g.chr1:21914362C>T|ENST00000457706.1|+|||c.e1+780C>T|||0.5910224438902744|GGGAGGAAGGCGGCCCAGGAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 21976289 exm28371 C T . PASS FUNCOTATION=[RAP1GAP|hg19|chr1|21976289|21976289|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:21976289C>T|ENST00000374765.4|-|2|||||0.5785536159600998|ACTTGTCCACCCTGAAACACA|RAP1GAP_ENST00000542643.2_FIVE_PRIME_UTR/RAP1GAP_ENST00000290101.4_SPLICE_SITE_p.G15G/RAP1GAP_ENST00000374757.3_SPLICE_SITE|||||||||||||||||||||||||200|breast(48)_%7C_central_nervous_system(22)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)|||||||M64788|NM_002885.2|NP_002876.2|HGNC:9858|RAP1_%20_GTPase_%20_activating_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|RAP1GA1|"RAP1_%2C__%20_GTPase_%20_activating_%20_protein_%20_1"|KIAA0474_%2C__%20_RAP1GAP1_%2C__%20_RAP1GAPII||1p36.12|2016-10-05|2006-04-12|2006-04-12|BC054490||5909|ENSG00000076864|1904317|NM_002885|||CCDS218_%2C__%20_CCDS53276_%2C__%20_CCDS53277_%2C__%20_CCDS81276|OTTHUMG00000007513|5909|600278|NM_001145657|P47736|ENSG00000076864|uc001bex.4|RPGP1_HUMAN||J3QSS6_%7C_O75062_%7C_Q5T3S9_%7C_Q5T3T4_%7C_Q7Z5S8_%7C_Q9UQ51|P47736|GTP_%20_catabolic_%20_process_%20_(GO:0006184)_%7C_positive_%20_regulation_%20_of_%20_Rap_%20_GTPase_%20_activity_%20_(GO:0032854)_%7C_regulation_%20_of_%20_Ras_%20_GTPase_%20_activity_%20_(GO:0032318)_%7C_signal_%20_transduction_%20_(GO:0007165)|cytosol_%20_(GO:0005829)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_membrane_%20_(GO:0016020)|GTPase_%20_activator_%20_activity_%20_(GO:0005096)_%7C_GTPase_%20_activity_%20_(GO:0003924)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_Rap_%20_GTPase_%20_activator_%20_activity_%20_(GO:0046582)_%7C_Ras_%20_GTPase_%20_binding_%20_(GO:0017016)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 22354866 rs2473295 T C . PASS FUNCOTATION=[LINC00339|hg19|chr1|22354866|22354866|LINCRNA||SNP|T|T|C|g.chr1:22354866T>C|ENST00000416769.1|+|||c.e2-1907T>C|||0.4488778054862843|TGGGGCTGTATCCTAATGTGA|RP1-224A6.3_ENST00000455966.1_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||HGNC:25011|long_%20_intergenic_%20_non-protein_%20_coding_%20_RNA_%20_339|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|NCRNA00339|"non-protein_%20_coding_%20_RNA_%20_339"|HSPC157||1p36.12|2014-11-18|2011-08-10|2011-08-10|||29092|ENSG00000218510|11042152|||||OTTHUMG00000002757|29092||NR_023918||ENSG00000218510|uc284mnl.1|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 22855441 rs12137696 C T . PASS FUNCOTATION=[ZBTB40|hg19|chr1|22855441|22855441|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:22855441C>T|ENST00000375647.4|+|18|||||0.5187032418952618|ATCAGATGCCCTCTGGCCCAT|ZBTB40_ENST00000404138.1_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||AL358788|NM_014870.3|NP_055685.3|HGNC:29045|zinc_%20_finger_%20_and_%20_BTB_%20_domain_%20_containing_%20_40|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA0478_%2C__%20_ZNF923||1p36.12|2016-10-05|||AB007947||9923|ENSG00000184677||NM_014870|861_%7C_28|BTB_%20_domain_%20_containing_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS224_%2C__%20_CCDS81278|OTTHUMG00000002897|9923|612106|NM_001083621|Q9NUA8|ENSG00000184677|uc001bft.2|ZBT40_HUMAN||O75066_%7C_Q5TFU5_%7C_Q8N1R1|Q9NUA8|bone_%20_mineralization_%20_(GO:0030282)_%7C_cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 23435538 rs16827981 G A . PASS FUNCOTATION=[LUZP1|hg19|chr1|23435538|23435538|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr1:23435538G>A|ENST00000302291.4|-|3|||||0.4339152119700748|CAAGCTTTCCGTCAATACTTC|LUZP1_ENST00000314174.5_INTRON/LUZP1_ENST00000418342.1_DE_NOVO_START_IN_FRAME/LUZP1_ENST00000374623.3_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC051733|||HGNC:14985|leucine_%20_zipper_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||LUZP||1p36.12|2016-10-05|||BC051733||7798|ENSG00000169641|8812416|NM_033631|||CCDS30628|OTTHUMG00000003227|7798|601422|NM_001142546|Q86V48|ENSG00000169641|uc001bgm.2|LUZP1_HUMAN||Q5TH93_%7C_Q8N4X3_%7C_Q8TEH1|Q86V48|artery_%20_development_%20_(GO:0060840)_%7C_neural_%20_fold_%20_bending_%20_(GO:0021503)_%7C_ventricular_%20_septum_%20_development_%20_(GO:0003281)|membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)|||||true|false|0.8674_%2C_0.1326|false|false|1||false|true|false|LUZP1:7798|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|16827981|23435538|false|false|0|true|0|false|0.807164_%2C_0.192836|false|false|true|SNV|true|0x050100400005150537000100|1|false|123|rs16827981|] -chr1 23720491 indel.1632 AC A . PASS FUNCOTATION=[TCEA3|hg19|chr1|23720492|23720492|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:23720492delC|ENST00000450454.2|-|8|807|c.699delG|c.(697-699)aagfs|p.K233fs|0.6034912718204489|GGTTCCGGTACTTCATGTCCG||||||||||||||||||||||||||1|upper_aerodigestive_tract(1)|||||||BC041613|NM_003196.1|NP_003187.1|HGNC:11615|transcription_%20_elongation_%20_factor_%20_A3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"transcription_%20_elongation_%20_factor_%20_A_%20_(SII)_%2C__%20_3"|TFIIS.H||1p36.12|2016-10-05||2016-02-15|AJ223473||6920|ENSG00000204219|9790746|NM_003196|||CCDS44086|OTTHUMG00000003233|6920|604128|NM_003196|O75764|ENSG00000204219|uc057dfl.1|TCEA3_HUMAN||A8K2K7_%7C_Q5DR83|O75764|regulation_%20_of_%20_DNA-templated_%20_transcription_%2C__%20_elongation_%20_(GO:0032784)_%7C_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006357)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false||false|false|||false|false|false|TCEA3:6920|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|769709955|23720492|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs769709955|] -chr1 23751126 exm30864 T A . PASS FUNCOTATION=[TCEA3|hg19|chr1|23751126|23751126|START_CODON_SNP||SNP|T|T|A|g.chr1:23751126T>A|ENST00000450454.2|-|1|108|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.7506234413965087|TCCTGGCCCATGTTGGCCCGC|TCEA3_ENST00000374601.3_START_CODON_SNP_p.M1L|||||||||||||||||||||||||1|upper_aerodigestive_tract(1)|||||||BC041613|NM_003196.1|NP_003187.1|HGNC:11615|transcription_%20_elongation_%20_factor_%20_A3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"transcription_%20_elongation_%20_factor_%20_A_%20_(SII)_%2C__%20_3"|TFIIS.H||1p36.12|2016-10-05||2016-02-15|AJ223473||6920|ENSG00000204219|9790746|NM_003196|||CCDS44086|OTTHUMG00000003233|6920|604128|NM_003196|O75764|ENSG00000204219|uc057dfl.1|TCEA3_HUMAN||A8K2K7_%7C_Q5DR83|O75764|regulation_%20_of_%20_DNA-templated_%20_transcription_%2C__%20_elongation_%20_(GO:0032784)_%7C_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006357)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false||false|false|||false|false|false|TCEA3:6920|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200503010|23751126|false|true|0|false|0|false|0.999794_%2C_0.000171715_%2C_3.4343e-005|false|false|false|SNV|true|0x050200000a05040402000100|1|false|137|rs200503010|] -chr1 23756350 exm30867 T C . PASS FUNCOTATION=[ASAP3|hg19|chr1|23756350|23756350|NONSTOP||SNP|T|T|C|g.chr1:23756350T>C|ENST00000336689.3|-|25|2756|c.2711A>G|c.(2710-2712)tAg>tGg|p.*904W|0.4763092269326683|AGCAAGGAGCTAGTCTTGCAA|ASAP3_ENST00000437606.2_NONSTOP_p.*895W/ASAP3_ENST00000495646.1_NONSTOP_p.*408W|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471134|NM_017707.3|NP_060177.2|HGNC:14987|ArfGAP_%20_with_%20_SH3_%20_domain_%2C__%20_ankyrin_%20_repeat_%20_and_%20_PH_%20_domain_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DDEFL1|"development_%20_and_%20_differentiation_%20_enhancing_%20_factor-like_%20_1"|FLJ20199_%2C__%20_UPLC1_%2C__%20_CENTB6|"centaurin_%2C__%20_beta_%20_6"|1p36.12|2016-10-05|2008-09-22|2008-10-09|AK000206||55616|ENSG00000088280|14654939|NM_017707|403_%7C_682_%7C_395_%7C_1291|Ankyrin_%20_repeat_%20_domain_%20_containing_%7C_Pleckstrin_%20_homology_%20_domain_%20_containing_%7C_ArfGAPs_%7C_BAR-PH_%20_domain_%20_containing|CCDS235_%2C__%20_CCDS44087|OTTHUMG00000003234|55616|616594|NM_001143778|Q8TDY4|ENSG00000088280|uc001bha.3|ASAP3_HUMAN||B3KRW0_%7C_B4DHH4_%7C_Q6P9F4_%7C_Q86UY1_%7C_Q9NXK2|Q8TDY4|cell_%20_migration_%20_(GO:0016477)_%7C_positive_%20_regulation_%20_of_%20_ARF_%20_GTPase_%20_activity_%20_(GO:0032850)_%7C_regulation_%20_of_%20_stress_%20_fiber_%20_assembly_%20_(GO:0051492)|cytoplasm_%20_(GO:0005737)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_ruffle_%20_(GO:0001726)|ARF_%20_GTPase_%20_activator_%20_activity_%20_(GO:0008060)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false||false|false|||false|false|false|ASAP3:55616|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|148021104|23756350|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000205000402000100|1|false|134|rs148021104|] -chr1 24100223 rs7514394 C T . PASS FUNCOTATION=[PITHD1|hg19|chr1|24100223|24100223|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:24100223C>T|ENST00000246151.4|+||||||0.4389027431421446|CCTGGAAGGGCCTTGTGTCCA|RP5-886K2.3_ENST00000427796.1_RNA/RP5-886K2.3_ENST00000447961.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471134|NM_020362.4|NP_065095.2|HGNC:25022|PITH_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf128|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_128"_%2C__%20_"PITH_%20_(C-terminal_%20_proteasome-interacting_%20_domain_%20_of_%20_thioredoxin-like)_%20_domain_%20_containing_%20_1"|HT014_%2C__%20_TXNL1CL|"TXNL1_%20_C-terminal_%20_like"|1p36.11|2016-04-06|2011-02-21|2016-04-06|||57095|ENSG00000057757|12477932|NM_020362|||CCDS240|OTTHUMG00000002960|57095||NM_020362|Q9GZP4|ENSG00000057757|uc001bhq.4|PITH1_HUMAN||B2R7J4_%7C_Q5QPN6_%7C_Q5QPN7_%7C_Q9NRI8|Q9GZP4||nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 24201027 var_1_24201027 AG A . PASS FUNCOTATION=[CNR2|hg19|chr1|24201028|24201028|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:24201028delG|ENST00000374472.4|-|2|1243|c.1080delC|c.(1078-1080)tgcfs|p.*361fs|0.5286783042394015|GGCCTCATCAGCAATCAGAGA|CNR2_ENST00000536471.1_FRAME_SHIFT_DEL_p.*361fs|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X74328|NM_001841.2|NP_001832.1|HGNC:2160|cannabinoid_%20_receptor_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"cannabinoid_%20_receptor_%20_2_%20_(macrophage)"|CB2||1p36.11|2016-10-05||2015-11-06|X74328||1269|ENSG00000188822||NM_001841|202|Cannabinoid_%20_receptors|CCDS245|OTTHUMG00000013892|1269|605051|NM_001841|P34972|ENSG00000188822|uc001bif.4|CNR2_HUMAN|Dronabinol(DB00470)_%7C_Nabilone(DB00486)|C6ES44_%7C_Q4VBK8_%7C_Q5JRH7_%7C_Q6B0G7_%7C_Q6NSY0|P34972|G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%2C__%20_coupled_%20_to_%20_cyclic_%20_nucleotide_%20_second_%20_messenger_%20_(GO:0007187)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_negative_%20_regulation_%20_of_%20_action_%20_potential_%20_(GO:0045759)_%7C_negative_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050728)_%7C_negative_%20_regulation_%20_of_%20_mast_%20_cell_%20_activation_%20_(GO:0033004)_%7C_negative_%20_regulation_%20_of_%20_nitric-oxide_%20_synthase_%20_activity_%20_(GO:0051001)_%7C_negative_%20_regulation_%20_of_%20_synaptic_%20_transmission_%2C__%20_GABAergic_%20_(GO:0032229)_%7C_response_%20_to_%20_amphetamine_%20_(GO:0001975)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)_%7C_sensory_%20_perception_%20_of_%20_pain_%20_(GO:0019233)|dendrite_%20_(GO:0030425)_%7C_extrinsic_%20_component_%20_of_%20_cytoplasmic_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0031234)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)|cannabinoid_%20_receptor_%20_activity_%20_(GO:0004949)||||true|false||false|false|||false|false|false|CNR2:1269|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|758031503|24201028|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs758031503|] -chr1 24372971 rs12401982 C T . PASS FUNCOTATION=[RP11-293P20.2|hg19|chr1|24372971|24372971|RNA||SNP|C|C|T|g.chr1:24372971C>T|ENST00000439239.2|+|||c.e2+4136C>T|||0.49625935162094764|GTGACTGTATCCGCCCACATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 24377326 rs11586125 T C . PASS FUNCOTATION=[RP11-293P20.2|hg19|chr1|24377326|24377326|RNA||SNP|T|T|C|g.chr1:24377326T>C|ENST00000439239.2|+|||c.e2+8491T>C|||0.5112219451371571|TGAGGCCTGCTCCAGCTCCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 24379601 rs4649163 T C . PASS FUNCOTATION=[RP11-293P20.2|hg19|chr1|24379601|24379601|RNA||SNP|T|T|C|g.chr1:24379601T>C|ENST00000439239.2|+|||c.e2+10766T>C|||0.5236907730673317|TTAGTCCATGTTGTGTTGCTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 24389631 indel.1682 GT G . PASS FUNCOTATION=[MYOM3|hg19|chr1|24389632|24389632|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:24389632delT|ENST00000374434.3|-|32|3918|c.3754delA|c.(3754-3756)accfs|p.T1252fs|0.5785536159600998|AACCAGGTGGTTTTCATGTAC|MYOM3_ENST00000338909.5_FRAME_SHIFT_DEL_p.T145fs/MYOM3_ENST00000330966.7_FRAME_SHIFT_DEL_p.T1255fs/RP11-293P20.2_ENST00000439239.2_RNA/RP11-293P20.4_ENST00000429191.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||196|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(104)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471134|NM_152372.3|NP_689585.3|HGNC:26679|myomesin_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"myomesin_%20_family_%2C__%20_member_%20_3"|FLJ35961||1p36.11|2016-10-05||2012-10-17|AK093280||127294|ENSG00000142661|18177667|NM_152372|555_%7C_593_%7C_658_%7C_594|Fibronectin_%20_type_%20_III_%20_domain_%20_containing_%7C_I-set_%20_domain_%20_containing_%7C_Myosin_%20_binding_%20_proteins_%7C_Immunoglobulin_%20_like_%20_domain_%20_containing|CCDS41281|OTTHUMG00000002969|127294|616832|NM_152372|Q5VTT5|ENSG00000142661|uc001bin.5|MYOM3_HUMAN||A6NF75_%7C_Q5VTT6_%7C_Q6AWC0_%7C_Q6AWC1_%7C_Q6NXF9_%7C_Q6ZRG7_%7C_Q7Z3G9_%7C_Q8NA11_%7C_Q96C54|Q5VTT5||M_%20_band_%20_(GO:0031430)|protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 24390612 var_1_24390612 AC A . PASS FUNCOTATION=[MYOM3|hg19|chr1|24390613|24390613|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:24390613delC|ENST00000374434.3|-|30|3735|c.3571delG|c.(3571-3573)gttfs|p.V1191fs|0.5361596009975063|TCGTCAGAAACCATCGCTCTG|MYOM3_ENST00000338909.5_FRAME_SHIFT_DEL_p.V84fs/MYOM3_ENST00000330966.7_FRAME_SHIFT_DEL_p.V1194fs/RP11-293P20.2_ENST00000439239.2_RNA/RP11-293P20.4_ENST00000429191.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||196|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(104)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471134|NM_152372.3|NP_689585.3|HGNC:26679|myomesin_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"myomesin_%20_family_%2C__%20_member_%20_3"|FLJ35961||1p36.11|2016-10-05||2012-10-17|AK093280||127294|ENSG00000142661|18177667|NM_152372|555_%7C_593_%7C_658_%7C_594|Fibronectin_%20_type_%20_III_%20_domain_%20_containing_%7C_I-set_%20_domain_%20_containing_%7C_Myosin_%20_binding_%20_proteins_%7C_Immunoglobulin_%20_like_%20_domain_%20_containing|CCDS41281|OTTHUMG00000002969|127294|616832|NM_152372|Q5VTT5|ENSG00000142661|uc001bin.5|MYOM3_HUMAN||A6NF75_%7C_Q5VTT6_%7C_Q6AWC0_%7C_Q6AWC1_%7C_Q6NXF9_%7C_Q6ZRG7_%7C_Q7Z3G9_%7C_Q8NA11_%7C_Q96C54|Q5VTT5||M_%20_band_%20_(GO:0031430)|protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 24527095 exm-rs11249024 T C . PASS FUNCOTATION=[RP11-10N16.2|hg19|chr1|24527095|24527095|LINCRNA||SNP|T|T|C|g.chr1:24527095T>C|ENST00000439059.2|+|||c.e1+214T>C|||0.44139650872817954|TGAGATGTATTGAAAGATTTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 24531634 rs946662 C A . PASS FUNCOTATION=[RP11-10N16.2|hg19|chr1|24531634|24531634|LINCRNA||SNP|C|C|A|g.chr1:24531634C>A|ENST00000439059.2|+|||c.e2+2545C>A|||0.43640897755610975|AGAGAGCTAACGTAACTTGCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 24537652 psy_rs112274538 C A . PASS FUNCOTATION=[RP11-10N16.2|hg19|chr1|24537652|24537652|LINCRNA||SNP|C|C|A|g.chr1:24537652C>A|ENST00000439059.2|+|||c.e3-531C>A|||0.5211970074812967|CAAATCACTTCTCCAGGAAGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 24636835 rs672511 C T . PASS FUNCOTATION=[RP11-10N16.3|hg19|chr1|24636835|24636835|RNA||SNP|C|C|T|g.chr1:24636835C>T|ENST00000437965.1|-|||c.e3-330G>A|||0.42643391521197005|TACAGACTCACGTAGACTGGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 24640314 rs621535 G A . PASS FUNCOTATION=[RP11-10N16.3|hg19|chr1|24640314|24640314|RNA||SNP|G|G|A|g.chr1:24640314G>A|ENST00000437965.1|-|||c.e2+1832C>T|||0.4688279301745636|GCTGTATTGAGGGGAGGTTGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 24645356 rs2248219 A G . PASS FUNCOTATION=[GRHL3|hg19|chr1|24645356|24645356|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:24645356A>G|ENST00000236255.4|+||||||0.45885286783042395|TCTGTAAAATATGTGTTGAAG|GRHL3_ENST00000342072.4_FIVE_PRIME_FLANK/GRHL3_ENST00000350501.5_FIVE_PRIME_FLANK/GRHL3_ENST00000356046.2_FIVE_PRIME_FLANK/GRHL3_ENST00000361548.4_FIVE_PRIME_FLANK/RP11-10N16.3_ENST00000437965.1_RNA/GRHL3_ENST00000530984.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||CH471134|NM_021180.3|NP_067003.2|HGNC:25839|grainyhead_%20_like_%20_transcription_%20_factor_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TFCP2L4|"transcription_%20_factor_%20_CP2-like_%20_4"_%2C__%20_"grainyhead-like_%20_3_%20_(Drosophila)"|SOM||1p36.11|2016-10-05|2005-07-11|2016-01-11|AY231161||57822|ENSG00000158055|12549979_%2C__%20_23685552|NM_021180|||CCDS251_%2C__%20_CCDS252_%2C__%20_CCDS44088_%2C__%20_CCDS53284|OTTHUMG00000003040|57822|608317|NM_001195010|Q8TE85|ENSG00000158055|uc001bix.3|GRHL3_HUMAN||A2A297_%7C_B2RCL1_%7C_G3XAF0_%7C_Q5TH78_%7C_Q86Y06_%7C_Q8N407|Q8TE85|central_%20_nervous_%20_system_%20_development_%20_(GO:0007417)_%7C_cochlea_%20_morphogenesis_%20_(GO:0090103)_%7C_ectoderm_%20_development_%20_(GO:0007398)_%7C_epidermis_%20_development_%20_(GO:0008544)_%7C_establishment_%20_of_%20_planar_%20_polarity_%20_(GO:0001736)_%7C_eyelid_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0061029)_%7C_pattern_%20_specification_%20_process_%20_(GO:0007389)_%7C_planar_%20_cell_%20_polarity_%20_pathway_%20_involved_%20_in_%20_neural_%20_tube_%20_closure_%20_(GO:0090179)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_regulation_%20_of_%20_actin_%20_cytoskeleton_%20_organization_%20_(GO:0032956)_%7C_wound_%20_healing_%20_(GO:0042060)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_sequence-specific_%20_DNA_%20_binding_%20_RNA_%20_polymerase_%20_II_%20_transcription_%20_factor_%20_activity_%20_(GO:0000981)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 24687425 indel.1723 T TA . PASS FUNCOTATION=[STPG1|hg19|chr1|24687425|24687426|FRAME_SHIFT_INS||INS|-|-|A|g.chr1:24687425_24687426insA|ENST00000374409.1|-|8|1099|c.843_844insT|c.(844-846)aagfs|p.K282fs|0.5|TGAAATGCTTGCGGGGGCCT|STPG1_ENST00000337248.4_FRAME_SHIFT_INS_p.K282fs/STPG1_ENST00000003583.8_FRAME_SHIFT_INS_p.K235fs/GRHL3_ENST00000350501.5_INTRON/STPG1_ENST00000440416.1_FRAME_SHIFT_INS_p.K235fs/STPG1_ENST00000468303.1_INTRON|||||||||||||||||||||||||||||||||BC063891|NM_001199012.1|NP_001185941.1|HGNC:28070|sperm_%20_tail_%20_PG-rich_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf201|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_201"|FLJ33340_%2C__%20_MAPO2|"O6-methylguanine-induced_%20_apoptosis_%20_2"|1p36.11|2016-02-26|2012-07-30|2016-02-26|BC047705||90529|ENSG00000001460|23028632|NM_178122|||CCDS253_%2C__%20_CCDS55581|OTTHUMG00000003297|90529|615826|NM_001199012|Q5TH74|ENSG00000001460|uc001bja.4|STPG1_HUMAN||Q49AP0_%7C_Q6P3R4_%7C_Q86VU9_%7C_Q8WVQ3|Q5TH74|apoptotic_%20_process_%20_(GO:0006915)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|STPG1:90529_%7C_GRHL3:57822|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|868621625|24687425|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|147|rs868621625|] -chr1 24876383 rs2776747 T C . PASS FUNCOTATION=[RP4-594I10.3|hg19|chr1|24876383|24876383|LINCRNA||SNP|T|T|C|g.chr1:24876383T>C|ENST00000577528.1|-|||c.e2-1996A>G|||0.4513715710723192|GGGACTTGGATGCTGAATCAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 24877458 rs12065278 A G . PASS FUNCOTATION=[RP4-594I10.3|hg19|chr1|24877458|24877458|LINCRNA||SNP|A|A|G|g.chr1:24877458A>G|ENST00000577528.1|-|||c.e2-921T>C|||0.49625935162094764|TTTTTCTCCAAAGCACTTATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 24881126 rs6424099 C T . PASS FUNCOTATION=[NCMAP|hg19|chr1|24881126|24881126|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:24881126C>T|ENST00000374392.2|+||||||0.5062344139650873|TGGCCTCTCCCTGTAACCAGG|RP4-594I10.3_ENST00000577528.1_LINCRNA|||||||||||||||||||||||||||||||||BC147015|NM_001010980.4|NP_001010980.1|HGNC:29332|non-compact_%20_myelin_%20_associated_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf130|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_130"|FLJ42528_%2C__%20_MP11|"myelin_%20_protein_%20_of_%20_11_%20_kDa"|1p36.11|2015-11-18|2012-07-31|2015-11-18|AK124519||400746|ENSG00000184454|18650334|NM_001010980|||CCDS30632|OTTHUMG00000003317|400746||NM_001010980|Q5T1S8|ENSG00000184454|uc001bjk.3|NCMAP_HUMAN||A0PK04_%7C_B2RV34|Q5T1S8|peripheral_%20_nervous_%20_system_%20_myelin_%20_formation_%20_(GO:0032290)_%7C_positive_%20_regulation_%20_of_%20_myelination_%20_(GO:0031643)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_paranode_%20_region_%20_of_%20_axon_%20_(GO:0033270)_%7C_Schmidt-Lanterman_%20_incisure_%20_(GO:0043220)|structural_%20_constituent_%20_of_%20_myelin_%20_sheath_%20_(GO:0019911)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 24881453 rs6424101 G T . PASS FUNCOTATION=[NCMAP|hg19|chr1|24881453|24881453|FIVE_PRIME_FLANK||SNP|G|G|T|g.chr1:24881453G>T|ENST00000374392.2|+||||||0.5087281795511222|TGGGTTGGGAGCAGTGGCTCA|RP4-594I10.3_ENST00000577528.1_LINCRNA|||||||||||||||||||||||||||||||||BC147015|NM_001010980.4|NP_001010980.1|HGNC:29332|non-compact_%20_myelin_%20_associated_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf130|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_130"|FLJ42528_%2C__%20_MP11|"myelin_%20_protein_%20_of_%20_11_%20_kDa"|1p36.11|2015-11-18|2012-07-31|2015-11-18|AK124519||400746|ENSG00000184454|18650334|NM_001010980|||CCDS30632|OTTHUMG00000003317|400746||NM_001010980|Q5T1S8|ENSG00000184454|uc001bjk.3|NCMAP_HUMAN||A0PK04_%7C_B2RV34|Q5T1S8|peripheral_%20_nervous_%20_system_%20_myelin_%20_formation_%20_(GO:0032290)_%7C_positive_%20_regulation_%20_of_%20_myelination_%20_(GO:0031643)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_paranode_%20_region_%20_of_%20_axon_%20_(GO:0033270)_%7C_Schmidt-Lanterman_%20_incisure_%20_(GO:0043220)|structural_%20_constituent_%20_of_%20_myelin_%20_sheath_%20_(GO:0019911)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 25297184 exm-rs11249215 G A . PASS FUNCOTATION=[RP11-84D1.2|hg19|chr1|25297184|25297184|LINCRNA||SNP|G|G|A|g.chr1:25297184G>A|ENST00000568143.1|-|||c.e1-172C>T|||0.5910224438902744|GCCACATCCCGTCGTGTCCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 25297184 rs11249215 G A . PASS FUNCOTATION=[RP11-84D1.2|hg19|chr1|25297184|25297184|LINCRNA||SNP|G|G|A|g.chr1:25297184G>A|ENST00000568143.1|-|||c.e1-172C>T|||0.5910224438902744|GCCACATCCCGTCGTGTCCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 25297217 rs11249216 G T . PASS FUNCOTATION=[RP11-84D1.2|hg19|chr1|25297217|25297217|LINCRNA||SNP|G|G|T|g.chr1:25297217G>T|ENST00000568143.1|-|||c.e1-139C>A|||0.5885286783042394|CACTCCCCGTGTCTCCCTAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 25908241 rs10902661 C T . PASS FUNCOTATION=[RP11-70P17.1|hg19|chr1|25908241|25908241|LINCRNA||SNP|C|C|T|g.chr1:25908241C>T|ENST00000412797.1|+|||c.e1-22C>T|||0.5960099750623441|TGACCTGGACCGCATCCCGGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 25908805 psy_rs6598889 T C . PASS FUNCOTATION=[RP11-70P17.1|hg19|chr1|25908805|25908805|LINCRNA||SNP|T|T|C|g.chr1:25908805T>C|ENST00000412797.1|+|||c.e1+542T>C|||0.486284289276808|GGTCTGGGCGTGGTGGCTCAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 25914219 rs7546822 T C . PASS FUNCOTATION=[RP11-70P17.1|hg19|chr1|25914219|25914219|LINCRNA||SNP|T|T|C|g.chr1:25914219T>C|ENST00000412797.1|+|||c.e2-2441T>C|||0.48877805486284287|AAAGAGTTACTGAGAACTGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 26161571 indel.1796 CT C . PASS FUNCOTATION=[AUNIP|hg19|chr1|26161572|26161572|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:26161572delT|ENST00000374298.3|-|3|1042|c.986delA|c.(985-987)cagfs|p.Q329fs|0.44139650872817954|CCCATCCTCCTGGCACTGAGC|AUNIP_ENST00000538789.1_FRAME_SHIFT_DEL_p.Q329fs/AUNIP_ENST00000481602.1_INTRON/RP1-317E23.7_ENST00000606617.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||GQ844687|NM_024037.1|NP_076942.1|HGNC:28363|aurora_%20_kinase_%20_A_%20_and_%20_ninein_%20_interacting_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf135|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_135"|MGC2603_%2C__%20_AIBp||1p36.11|2014-11-19|2012-08-07|2012-08-07|||79000|ENSG00000127423|20596670|NM_024037|||CCDS266_%2C__%20_CCDS72731|OTTHUMG00000007372|79000||NM_001287490|Q9H7T9|ENSG00000127423|uc001bkw.3|AUNIP_HUMAN||C9EI59_%7C_Q53F70|Q9H7T9|spindle_%20_organization_%20_(GO:0007051)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_spindle_%20_pole_%20_(GO:0000922)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 26161629 var_1_26161629 GT G . PASS FUNCOTATION=[AUNIP|hg19|chr1|26161630|26161630|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:26161630delT|ENST00000374298.3|-|3|984|c.928delA|c.(928-930)accfs|p.T310fs|0.4339152119700748|CAGTTATTGGTTACATCTTGA|AUNIP_ENST00000538789.1_FRAME_SHIFT_DEL_p.T310fs/AUNIP_ENST00000481602.1_INTRON/RP1-317E23.7_ENST00000606617.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||GQ844687|NM_024037.1|NP_076942.1|HGNC:28363|aurora_%20_kinase_%20_A_%20_and_%20_ninein_%20_interacting_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf135|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_135"|MGC2603_%2C__%20_AIBp||1p36.11|2014-11-19|2012-08-07|2012-08-07|||79000|ENSG00000127423|20596670|NM_024037|||CCDS266_%2C__%20_CCDS72731|OTTHUMG00000007372|79000||NM_001287490|Q9H7T9|ENSG00000127423|uc001bkw.3|AUNIP_HUMAN||C9EI59_%7C_Q53F70|Q9H7T9|spindle_%20_organization_%20_(GO:0007051)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_spindle_%20_pole_%20_(GO:0000922)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 26161798 indel.1800 AGG A . PASS FUNCOTATION=[AUNIP|hg19|chr1|26161799|26161800|FRAME_SHIFT_DEL||DEL|GG|GG|-|g.chr1:26161799_26161800delGG|ENST00000374298.3|-|3|815_816|c.758_759delCC|c.(757-762)tcctggfs|p.S253fs|0.4527363184079602|CTCCATTCCAGGATTCCCTGTA|AUNIP_ENST00000538789.1_FRAME_SHIFT_DEL_p.S253fs/AUNIP_ENST00000481602.1_INTRON/RP1-317E23.7_ENST00000606617.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||GQ844687|NM_024037.1|NP_076942.1|HGNC:28363|aurora_%20_kinase_%20_A_%20_and_%20_ninein_%20_interacting_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf135|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_135"|MGC2603_%2C__%20_AIBp||1p36.11|2014-11-19|2012-08-07|2012-08-07|||79000|ENSG00000127423|20596670|NM_024037|||CCDS266_%2C__%20_CCDS72731|OTTHUMG00000007372|79000||NM_001287490|Q9H7T9|ENSG00000127423|uc001bkw.3|AUNIP_HUMAN||C9EI59_%7C_Q53F70|Q9H7T9|spindle_%20_organization_%20_(GO:0007051)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_spindle_%20_pole_%20_(GO:0000922)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 26161915 indel.1804 TG T . PASS FUNCOTATION=[AUNIP|hg19|chr1|26161916|26161916|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:26161916delG|ENST00000374298.3|-|3|698|c.642delC|c.(640-642)cacfs|p.H214fs|0.4488778054862843|GTAGTTTGGTGTGTTTCTCCA|AUNIP_ENST00000538789.1_FRAME_SHIFT_DEL_p.H214fs/AUNIP_ENST00000481602.1_INTRON/RP1-317E23.7_ENST00000606617.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||GQ844687|NM_024037.1|NP_076942.1|HGNC:28363|aurora_%20_kinase_%20_A_%20_and_%20_ninein_%20_interacting_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf135|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_135"|MGC2603_%2C__%20_AIBp||1p36.11|2014-11-19|2012-08-07|2012-08-07|||79000|ENSG00000127423|20596670|NM_024037|||CCDS266_%2C__%20_CCDS72731|OTTHUMG00000007372|79000||NM_001287490|Q9H7T9|ENSG00000127423|uc001bkw.3|AUNIP_HUMAN||C9EI59_%7C_Q53F70|Q9H7T9|spindle_%20_organization_%20_(GO:0007051)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_spindle_%20_pole_%20_(GO:0000922)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 26164008 indel.1810 AG A . PASS FUNCOTATION=[AUNIP|hg19|chr1|26164009|26164009|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:26164009delG|ENST00000374298.3|-|2|171|c.115delC|c.(115-117)ctcfs|p.L39fs|0.39650872817955113|CCAGGAAGGAGTGTTAGCATT|AUNIP_ENST00000538789.1_FRAME_SHIFT_DEL_p.L39fs/AUNIP_ENST00000481602.1_INTRON|||||||||||||||||||||||||||||||||GQ844687|NM_024037.1|NP_076942.1|HGNC:28363|aurora_%20_kinase_%20_A_%20_and_%20_ninein_%20_interacting_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf135|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_135"|MGC2603_%2C__%20_AIBp||1p36.11|2014-11-19|2012-08-07|2012-08-07|||79000|ENSG00000127423|20596670|NM_024037|||CCDS266_%2C__%20_CCDS72731|OTTHUMG00000007372|79000||NM_001287490|Q9H7T9|ENSG00000127423|uc001bkw.3|AUNIP_HUMAN||C9EI59_%7C_Q53F70|Q9H7T9|spindle_%20_organization_%20_(GO:0007051)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_spindle_%20_pole_%20_(GO:0000922)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 26301006 indel.1816 AC A . PASS FUNCOTATION=[PAFAH2|hg19|chr1|26301007|26301007|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:26301007delC|ENST00000374282.3|-|9|1074|c.893delG|c.(892-894)tgtfs|p.C298fs|0.4538653366583541|ATGCTGGGCACATATCTTCTT|PAFAH2_ENST00000374284.1_FRAME_SHIFT_DEL_p.C298fs|||||||||||||||||||||||||68|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U89386|NM_000437.3|NP_000428.2|HGNC:8579|platelet_%20_activating_%20_factor_%20_acetylhydrolase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"platelet-activating_%20_factor_%20_acetylhydrolase_%20_2_%20_(40kD)"_%2C__%20_"platelet-activating_%20_factor_%20_acetylhydrolase_%20_2_%2C__%20_40kDa"|HSD-PLA2||1p36.11|2016-10-05||2016-03-09|D87845||5051|ENSG00000158006|8955149_%2C__%20_9494101|NM_000437|||CCDS270|OTTHUMG00000007437|5051|602344|NM_000437|Q99487|ENSG00000158006|uc001bld.4|PAFA2_HUMAN||D3DPK1_%7C_O15458_%7C_Q5SY02|Q99487|lipid_%20_catabolic_%20_process_%20_(GO:0016042)_%7C_lipid_%20_metabolic_%20_process_%20_(GO:0006629)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)|cytoplasm_%20_(GO:0005737)|1-alkyl-2-acetylglycerophosphocholine_%20_esterase_%20_activity_%20_(GO:0003847)_%7C_phospholipid_%20_binding_%20_(GO:0005543)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 26496455 rs2232648 C T . PASS FUNCOTATION=[ZNF593|hg19|chr1|26496455|26496455|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:26496455C>T|ENST00000374266.5|+|1|||||0.71571072319202|GCCCCTTGGCCGGCCGGGCTG|ZNF593_ENST00000270812.5_FIVE_PRIME_UTR/RP11-96L14.7_ENST00000407889.2_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||D45213|NM_015871.4|NP_056955.2|HGNC:30943|zinc_%20_finger_%20_protein_%20_593|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ZT86||1p36.11|2016-10-05|||D45213||51042|ENSG00000142684|9115366|NM_015871|||CCDS275|OTTHUMG00000007538|51042|616698|NM_015871|O00488|ENSG00000142684|uc001bll.5|ZN593_HUMAN||B2R4S0_%7C_Q5T2H7|O00488|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 26560745 rs3795687 G A . PASS FUNCOTATION=[CEP85|hg19|chr1|26560745|26560745|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:26560745G>A|ENST00000252992.4|+|1|||||0.6758104738154613|CCGCAGACGTGGTGGCTGCAG|CEP85_ENST00000451429.2_FIVE_PRIME_UTR|||||||||||||||||||||||||178|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_022778.3|NP_073615.2|HGNC:25309|centrosomal_%20_protein_%20_85|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CCDC21|"coiled-coil_%20_domain_%20_containing_%20_21"_%2C__%20_"centrosomal_%20_protein_%20_85kDa"|DKFZP434L0117||1p36.11|2016-03-30|2011-05-06|2016-03-30|AK024038||64793|ENSG00000130695|12477932|NM_022778|||CCDS277_%2C__%20_CCDS60038_%2C__%20_CCDS81285|OTTHUMG00000003380|64793||NM_001281517|Q6P2H3|ENSG00000130695|uc001bls.3|CEP85_HUMAN||B4DRL1_%7C_D3DPK4_%7C_F8W7K4_%7C_Q5VY68_%7C_Q5VY70_%7C_Q9H6Q1_%7C_Q9H828_%7C_Q9UF52|Q6P2H3||centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nucleolus_%20_(GO:0005730)_%7C_spindle_%20_pole_%20_(GO:0000922)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 26570762 indel.1881 AC A . PASS FUNCOTATION=[CEP85|hg19|chr1|26570763|26570763|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:26570763delC|ENST00000252992.4|+|3|292|c.162delC|c.(160-162)gacfs|p.D54fs|0.428927680798005|GTGTAGCCGACAGTGGGGACA|CEP85_ENST00000451429.2_INTRON|||||||||||||||||||||||||178|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_022778.3|NP_073615.2|HGNC:25309|centrosomal_%20_protein_%20_85|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CCDC21|"coiled-coil_%20_domain_%20_containing_%20_21"_%2C__%20_"centrosomal_%20_protein_%20_85kDa"|DKFZP434L0117||1p36.11|2016-03-30|2011-05-06|2016-03-30|AK024038||64793|ENSG00000130695|12477932|NM_022778|||CCDS277_%2C__%20_CCDS60038_%2C__%20_CCDS81285|OTTHUMG00000003380|64793||NM_001281517|Q6P2H3|ENSG00000130695|uc001bls.3|CEP85_HUMAN||B4DRL1_%7C_D3DPK4_%7C_F8W7K4_%7C_Q5VY68_%7C_Q5VY70_%7C_Q9H6Q1_%7C_Q9H828_%7C_Q9UF52|Q6P2H3||centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nucleolus_%20_(GO:0005730)_%7C_spindle_%20_pole_%20_(GO:0000922)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 27020012 rs4466675 C T . PASS FUNCOTATION=[ARID1A|hg19|chr1|27020012|27020012|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:27020012C>T|ENST00000324856.7|+||||||0.5112219451371571|TTCCTGGGATCGTGGTGTGGG|ARID1A_ENST00000457599.2_FIVE_PRIME_FLANK/RP5-968P14.2_ENST00000569378.1_RNA||AT_%20_rich_%20_interactive_%20_domain_%20_1A_%20_(SWI-like)|8289|1|1p35.3|yes||"clear_%20_cell_%20_ovarian_%20_carcinoma_%2C__%20_RCC"|||E|Rec|"Mis_%2C__%20_N_%2C__%20_F_%2C__%20_S_%2C__%20_D"||||||||||ARID1A{NM_006015.3}:r.1_1507_MAST2{ENST00000361297}:r.461_5738(2)||6004|NS(226)_%7C_adrenal_gland(1)_%7C_autonomic_ganglia(93)_%7C_biliary_tract(90)_%7C_bone(29)_%7C_breast(600)_%7C_central_nervous_system(245)_%7C_cervix(15)_%7C_endometrium(592)_%7C_eye(26)_%7C_genital_tract(2)_%7C_haematopoietic_and_lymphoid_tissue(631)_%7C_kidney(367)_%7C_large_intestine(396)_%7C_liver(231)_%7C_lung(183)_%7C_meninges(19)_%7C_oesophagus(5)_%7C_ovary(521)_%7C_pancreas(365)_%7C_pericardium(2)_%7C_peritoneum(13)_%7C_pleura(23)_%7C_prostate(58)_%7C_salivary_gland(171)_%7C_skin(120)_%7C_small_intestine(1)_%7C_soft_tissue(37)_%7C_stomach(511)_%7C_thymus(47)_%7C_thyroid(42)_%7C_upper_aerodigestive_tract(192)_%7C_urinary_tract(150)|||||||FJ821255|NM_006015.4|NP_006006.3|HGNC:11110|AT-rich_%20_interaction_%20_domain_%20_1A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf4_%2C__%20_SMARCF1|"SWI/SNF_%20_related_%2C__%20_matrix_%20_associated_%2C__%20_actin_%20_dependent_%20_regulator_%20_of_%20_chromatin_%2C__%20_subfamily_%20_f_%2C__%20_member_%20_1"_%2C__%20_"AT_%20_rich_%20_interactive_%20_domain_%20_1A_%20_(SWI-_%20_like)"_%2C__%20_"AT_%20_rich_%20_interactive_%20_domain_%20_1A_%20_(SWI-like)"|B120_%2C__%20_P270_%2C__%20_C10rf4_%2C__%20_BAF250_%2C__%20_BAF250a||1p36.11|2017-03-24|2004-01-30|2015-11-17|AB001895||8289|ENSG00000117713|9630625_%2C__%20_9434167|NM_139135|418|AT-rich_%20_interaction_%20_domain_%20_containing|CCDS285_%2C__%20_CCDS44091|OTTHUMG00000004004|8289|603024|NM_006015|O14497|ENSG00000117713|uc001bmv.2|ARI1A_HUMAN||D3DPL1_%7C_Q53FK9_%7C_Q5T0W1_%7C_Q5T0W2_%7C_Q5T0W3_%7C_Q8NFD6_%7C_Q96T89_%7C_Q9BY33_%7C_Q9HBJ5_%7C_Q9UPZ1|O14497|androgen_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030521)_%7C_ATP-dependent_%20_chromatin_%20_remodeling_%20_(GO:0043044)_%7C_cardiac_%20_chamber_%20_development_%20_(GO:0003205)_%7C_chromatin_%20_remodeling_%20_(GO:0006338)_%7C_chromatin-mediated_%20_maintenance_%20_of_%20_transcription_%20_(GO:0048096)_%7C_forebrain_%20_development_%20_(GO:0030900)_%7C_glucocorticoid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0042921)_%7C_intracellular_%20_estrogen_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030520)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nucleosome_%20_disassembly_%20_(GO:0006337)_%7C_nucleosome_%20_mobilization_%20_(GO:0042766)_%7C_optic_%20_cup_%20_formation_%20_involved_%20_in_%20_camera-type_%20_eye_%20_development_%20_(GO:0003408)_%7C_placenta_%20_blood_%20_vessel_%20_development_%20_(GO:0060674)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006357)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nBAF_%20_complex_%20_(GO:0071565)_%7C_npBAF_%20_complex_%20_(GO:0071564)_%7C_nuclear_%20_chromatin_%20_(GO:0000790)_%7C_nucleus_%20_(GO:0005634)_%7C_SWI/SNF_%20_complex_%20_(GO:0016514)|DNA_%20_binding_%20_(GO:0003677)_%7C_ligand-dependent_%20_nuclear_%20_receptor_%20_binding_%20_(GO:0016922)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 27558522 rs10902652 C T . PASS FUNCOTATION=[WDTC1|hg19|chr1|27558522|27558522|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:27558522C>T|ENST00000319394.3|+||||||0.5286783042394015|TGGTGGCGGGCGCCTGTAGTC|WDTC1_ENST00000361771.3_FIVE_PRIME_FLANK/RP11-40H20.4_ENST00000425205.1_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||FO393419|NM_015023.4|NP_055838.2|HGNC:29175|WD_%20_and_%20_tetratricopeptide_%20_repeats_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA1037_%2C__%20_ADP_%2C__%20_DCAF9|"adipose_%20_homolog_%20_(Drosophila)"_%2C__%20_"DDB1_%20_and_%20_CUL4_%20_associated_%20_factor_%20_9"|1p36.11|2016-10-05|||AK023778||23038|ENSG00000142784|12717455_%2C__%20_19238144|NM_015023|498_%7C_769_%7C_362|DDB1_%20_and_%20_CUL4_%20_associated_%20_factors_%7C_Tetratricopeptide_%20_repeat_%20_domain_%20_containing_%7C_WD_%20_repeat_%20_domain_%20_containing|CCDS296_%2C__%20_CCDS60044|OTTHUMG00000004273|23038||NM_001276252|Q8N5D0|ENSG00000142784|uc001bno.5|WDTC1_HUMAN||D3DPL5_%7C_Q5SSC5_%7C_Q9NV87_%7C_Q9UPW4|Q8N5D0|cellular_%20_chemical_%20_homeostasis_%20_(GO:0055082)_%7C_cellular_%20_response_%20_to_%20_insulin_%20_stimulus_%20_(GO:0032869)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_in_%20_utero_%20_embryonic_%20_development_%20_(GO:0001701)_%7C_multicellular_%20_organism_%20_growth_%20_(GO:0035264)_%7C_negative_%20_regulation_%20_of_%20_fatty_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0045717)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)_%7C_regulation_%20_of_%20_cell_%20_size_%20_(GO:0008361)|cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)|enzyme_%20_inhibitor_%20_activity_%20_(GO:0004857)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 28120132 indel.2029 AC A . PASS FUNCOTATION=[STX12|hg19|chr1|28120133|28120133|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:28120133delC|ENST00000373943.4|+|3|402|c.278delC|c.(277-279)actfs|p.T93fs|0.40399002493765584|CCCTTATCTACTTCAGAACAG|STX12_ENST00000468761.1_INTRON|Ovarian(5_%3B_5_%20_342_%20_2097_%20_9488_%20_34083)||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CR407620|NM_177424.2|NP_803173.1|HGNC:11430|syntaxin_%20_12|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||STX13_%2C__%20_STX14||1p35.3|2014-12-16|||BC046999||23673|ENSG00000117758|9507000|NM_177424|818|Syntaxins|CCDS310|OTTHUMG00000003730|23673|606892|NM_177424|Q86Y82|ENSG00000117758|uc001bou.4|STX12_HUMAN||B1AJQ7_%7C_O95564|Q86Y82|cholesterol_%20_efflux_%20_(GO:0033344)_%7C_intracellular_%20_protein_%20_transport_%20_(GO:0006886)_%7C_protein_%20_stabilization_%20_(GO:0050821)_%7C_synaptic_%20_vesicle_%20_exocytosis_%20_(GO:0016079)|endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_phagocytic_%20_vesicle_%20_(GO:0045335)_%7C_SNARE_%20_complex_%20_(GO:0031201)|SNAP_%20_receptor_%20_activity_%20_(GO:0005484)_%7C_SNARE_%20_binding_%20_(GO:0000149)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 28906454 var_1_28906454 C T . PASS FUNCOTATION=[SNHG12|hg19|chr1|28906454|28906454|RNA||SNP|C|C|T|g.chr1:28906454C>T|ENST00000488745.1|-|||c.e4+30G>A|||0.48877805486284287|ACAAGCTCACCTCCTCAGTAT|SNHG12_ENST00000531126.1_RNA/SNHG12_ENST00000483436.1_SPLICE_SITE/SNHG12_ENST00000475441.1_SPLICE_SITE/SNHG12_ENST00000384581.1_FIVE_PRIME_FLANK/SNORD99_ENST00000408612.1_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||HGNC:30062|small_%20_nucleolar_%20_RNA_%20_host_%20_gene_%20_12|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|C1orf79|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_79"_%2C__%20_"small_%20_nucleolar_%20_RNA_%20_host_%20_gene_%20_12_%20_(non-protein_%20_coding)"|PNAS-123_%2C__%20_LINC00100_%2C__%20_ASLNC04080|"long_%20_intergenic_%20_non-protein_%20_coding_%20_RNA_%20_100"|1p35.3|2016-12-21|2008-09-05|2015-02-20|AF277181_%2C__%20_KJ782215||85028|ENSG00000197989|25695231_%2C__%20_27980086|NR_024127|788|Long_%20_non-coding_%20_RNAs_%20_(published)||OTTHUMG00000003654|85028||NR_024127|Q9BXW3|ENSG00000197989|uc057dzf.1|SNH12_HUMAN|||Q9BXW3|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 29194818 rs204069 A G . PASS FUNCOTATION=[RP1-212P9.2|hg19|chr1|29194818|29194818|LINCRNA||SNP|A|A|G|g.chr1:29194818A>G|ENST00000443593.2|+|||c.e1-254A>G|||0.4937655860349127|TAATACGATCATCAGCCTCAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 29194901 exm2268873 C T . PASS FUNCOTATION=[RP1-212P9.2|hg19|chr1|29194901|29194901|LINCRNA||SNP|C|C|T|g.chr1:29194901C>T|ENST00000443593.2|+|||c.e1-171C>T|||0.4937655860349127|GTCACTTCACCTCCACGAGAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 29200219 rs7511894 T C . PASS FUNCOTATION=[RP1-212P9.3|hg19|chr1|29200219|29200219|RNA||SNP|T|T|C|g.chr1:29200219T>C|ENST00000418471.1|-|||c.e2+1219A>G|||0.5561097256857855|AGCTACACTCTTGGATCCCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 29658494 rs7530986 T C . PASS FUNCOTATION=[RP3-437I16.1|hg19|chr1|29658494|29658494|LINCRNA||SNP|T|T|C|g.chr1:29658494T>C|ENST00000417651.1|-|||c.e3+790A>G|||0.4937655860349127|TGAAGAAAAATGAAATGTATC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 29670073 psy_rs16838142 T C . PASS FUNCOTATION=[RP3-437I16.1|hg19|chr1|29670073|29670073|LINCRNA||SNP|T|T|C|g.chr1:29670073T>C|ENST00000417651.1|-|||c.e1-6122A>G|||0.5461346633416458|AGTCGTTCCATTTCCACACTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 30487342 rs453149 T C . PASS FUNCOTATION=[RP11-111I12.1|hg19|chr1|30487342|30487342|LINCRNA||SNP|T|T|C|g.chr1:30487342T>C|ENST00000445180.2|-|||c.e7-14A>G|||0.5286783042394015|AAGGAGAGCTTGGGGTGACTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 30494591 rs1603724 G A . PASS FUNCOTATION=[RP11-111I12.1|hg19|chr1|30494591|30494591|LINCRNA||SNP|G|G|A|g.chr1:30494591G>A|ENST00000445180.2|-|||c.e4-3281C>T|||0.29925187032418954|TGAAAGTATCGCCATCTTAAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 31198733 rs1149048 A G . PASS FUNCOTATION=[MATN1|hg19|chr1|31198733|31198733|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:31198733A>G|ENST00000373765.4|-||||||0.57356608478803|GGCTGTGTCCAGGGCTCAGGG|MATN1-AS1_ENST00000414532.2_RNA/MATN1-AS1_ENST00000454613.1_RNA/MATN1-AS1_ENST00000443076.1_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M55683|NM_002379.3|NP_002370.1|HGNC:6907|matrilin_%20_1_%2C__%20_cartilage_%20_matrix_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CRTM_%2C__%20_CMP||||1p35.2|2016-10-05|||M55675||4146|ENSG00000162510|2246248_%2C__%20_9083061|NM_002379|||CCDS336|OTTHUMG00000003705|4146|115437|NM_002379|P21941|ENSG00000162510|uc001brz.4|MATN1_HUMAN||B2R7E3_%7C_Q5TBB9|P21941|extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_growth_%20_plate_%20_cartilage_%20_chondrocyte_%20_morphogenesis_%20_(GO:0003429)_%7C_protein_%20_complex_%20_assembly_%20_(GO:0006461)_%7C_regulation_%20_of_%20_bone_%20_mineralization_%20_(GO:0030500)|extracellular_%20_region_%20_(GO:0005576)_%7C_proteinaceous_%20_extracellular_%20_matrix_%20_(GO:0005578)|extracellular_%20_matrix_%20_structural_%20_constituent_%20_(GO:0005201)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 32110813 rs7542583 A G . PASS FUNCOTATION=[PEF1|hg19|chr1|32110813|32110813|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:32110813A>G|ENST00000373703.4|-||||||0.57356608478803|AACCTGGCAAATGGGACGCAT|PEF1_ENST00000440872.2_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000610043.1_RNA/RP11-73M7.6_ENST00000609549.1_RNA/RP11-73M7.6_ENST00000609625.1_RNA/RP11-73M7.6_ENST00000607926.1_RNA/RP11-73M7.6_ENST00000585660.1_RNA/RP11-73M7.6_ENST00000610216.1_RNA/RP11-73M7.6_ENST00000608246.1_RNA/RP11-73M7.6_ENST00000608888.1_RNA/RP11-73M7.6_ENST00000608332.1_RNA/RP11-73M7.6_ENST00000591592.1_RNA/RP11-73M7.9_ENST00000581333.1_RNA/PEF1_ENST00000492061.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000585413.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000587445.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000589462.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000591929.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000593188.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000609033.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000609338.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000609373.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||69|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_lung(1)_%7C_pancreas(22)|||||||CR542139|NM_012392.3|NP_036524.1|HGNC:30009|penta-EF-hand_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||PEF1A|"peflin"|1p35.2|2016-10-05|||||553115|ENSG00000162517|10486255_%2C__%20_11883899|NM_012392|863|EF-hand_%20_domain_%20_containing|CCDS345|OTTHUMG00000003877|553115|610033|NM_012392|Q9UBV8|ENSG00000162517|uc001bth.3|PEF1_HUMAN|||Q9UBV8|proteolysis_%20_(GO:0006508)_%7C_response_%20_to_%20_calcium_%20_ion_%20_(GO:0051592)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_calcium-dependent_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_(GO:0004198)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_protein_%20_dimerization_%20_activity_%20_(GO:0046983)_%7C_protein_%20_heterodimerization_%20_activity_%20_(GO:0046982)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 32374452 indel.2196 TC T . PASS FUNCOTATION=[PTP4A2|hg19|chr1|32374453|32374453|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:32374453delC|ENST00000602725.1|-|5|923|c.505_504delG|c.(502-504)tagfs|p.M169fs|0.36159600997506236|ACATTTCCTTCTACTGAACAC|PTP4A2_ENST00000457805.2_FRAME_SHIFT_DEL_p.M138fs/PTP4A2_ENST00000470404.1_THREE_PRIME_UTR/PTP4A2_ENST00000344035.6_FRAME_SHIFT_DEL_p.M169fs/PTP4A2_ENST00000356536.3_THREE_PRIME_UTR/AL136115.1_ENST00000391369.1_FIVE_PRIME_FLANK/RP11-84A19.4_ENST00000602889.1_LINCRNA|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U48297|||HGNC:9635|protein_%20_tyrosine_%20_phosphatase_%20_type_%20_IVA_%2C__%20_member_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PTP4A||HU-PP-1_%2C__%20_PTPCAAX2_%2C__%20_OV-1_%2C__%20_ptp-IV1a_%2C__%20_PRL-2_%2C__%20_PRL2|"phosphatase_%20_of_%20_regenerating_%20_liver_%20_2"|1p35.2|2017-10-17|||L48723||8073|ENSG00000184007|8661118_%2C__%20_9514946|NM_080391|899|Protein_%20_tyrosine_%20_phosphatases_%20_type_%20_IVA|CCDS348_%2C__%20_CCDS53292_%2C__%20_CCDS59193|OTTHUMG00000003801|8073|601584|NM_001195100|Q12974|ENSG00000184007|uc001bty.2|TP4A2_HUMAN||A8K9I8_%7C_B4DM39_%7C_D3DPP0_%7C_E9PGJ6_%7C_O00649_%7C_Q15197_%7C_Q15259_%7C_Q15260_%7C_Q15261_%7C_R4GN50|Q12974|peptidyl-tyrosine_%20_dephosphorylation_%20_(GO:0035335)|cytoplasm_%20_(GO:0005737)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_plasma_%20_membrane_%20_(GO:0005886)|prenylated_%20_protein_%20_tyrosine_%20_phosphatase_%20_activity_%20_(GO:0004727)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 32752074 rs11807976 G A . PASS FUNCOTATION=[Y_RNA|hg19|chr1|32752074|32752074|RNA||SNP|G|G|A|g.chr1:32752074G>A|ENST00000516641.1|-|||c.e1+21C>T|||0.47381546134663344|CAAATGAAGCGGCGGGAATGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 33187046 rs359952 C T . PASS FUNCOTATION=[RP11-114B7.6|hg19|chr1|33187046|33187046|RNA||SNP|C|C|T|g.chr1:33187046C>T|ENST00000421619.1|-|||c.e2+3477G>A|||0.5660847880299252|CAGCCCTCATCTCTTTTTACC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 33402441 indel.2276 AC A . PASS FUNCOTATION=[RNF19B|hg19|chr1|33402442|33402442|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:33402442delC|ENST00000373456.7|-|9|2165|c.2164delG|c.(2164-2166)gtcfs|p.V722fs|0.4912718204488778|GGCTTCAAGACAGTTTGTCCC|RNF19B_ENST00000235150.4_FRAME_SHIFT_DEL_p.V721fs/RNF19B_ENST00000356990.5_THREE_PRIME_UTR|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471059|NM_153341.2|NP_699172.2|HGNC:26886|ring_%20_finger_%20_protein_%20_19B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|IBRDC3|"IBR_%20_domain_%20_containing_%20_3"|FLJ90005||1p35.1|2014-11-19|2007-08-20|2007-08-20|AK074486||127544|ENSG00000116514|12477932|NM_153341|58|Ring_%20_finger_%20_proteins|CCDS372_%2C__%20_CCDS44107_%2C__%20_CCDS72754|OTTHUMG00000004013|127544|610872|NM_001127361|Q6ZMZ0|ENSG00000116514|uc010oho.3|RN19B_HUMAN||B7ZLB2_%7C_E9PAW6_%7C_G3XA82_%7C_Q0VG77_%7C_Q5TH44_%7C_Q5TH45_%7C_Q6P6A4_%7C_Q8N2S8_%7C_Q8WUF3|Q6ZMZ0|interferon-gamma_%20_secretion_%20_(GO:0072643)_%7C_natural_%20_killer_%20_cell_%20_mediated_%20_cytotoxicity_%20_(GO:0042267)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|cytolytic_%20_granule_%20_(GO:0044194)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|ligase_%20_activity_%20_(GO:0016874)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 33472942 rs1534893 A G . PASS FUNCOTATION=[RP1-117O3.2|hg19|chr1|33472942|33472942|RNA||SNP|A|A|G|g.chr1:33472942A>G|ENST00000427524.1|+|||c.e1+20022A>G|||0.5261845386533666|TCTAAACCCAAAGCTGCTGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 35239992 rs639126 T C . PASS FUNCOTATION=[RP1-34M23.5|hg19|chr1|35239992|35239992|RNA||SNP|T|T|C|g.chr1:35239992T>C|ENST00000542839.1|-|||c.e2+12516A>G|||0.543640897755611|TGATGCCCTATACTCTTGCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 35246297 rs1764405 A G . PASS FUNCOTATION=[GJB3|hg19|chr1|35246297|35246297|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:35246297A>G|ENST00000373362.3|+||||||0.4763092269326683|AGGCTGGGGCACTGCAGGCTT|GJB3_ENST00000373366.2_FIVE_PRIME_FLANK/RP1-34M23.5_ENST00000542839.1_RNA/AL121988.1_ENST00000401343.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||EF126148|NM_001005752.1|NP_001005752.1|HGNC:4285|gap_%20_junction_%20_protein_%20_beta_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DFNA2_%2C__%20_EKV|"gap_%20_junction_%20_protein_%2C__%20_beta_%20_3_%2C__%20_31kD_%20_(connexin_%20_31)"_%2C__%20_"gap_%20_junction_%20_protein_%2C__%20_beta_%20_3_%2C__%20_31kDa_%20_(connexin_%20_31)"_%2C__%20_"erythrokeratodermia_%20_variabilis"_%2C__%20_"gap_%20_junction_%20_protein_%2C__%20_beta_%20_3_%2C__%20_31kDa"|CX31|"connexin_%20_31"|1p34.3|2016-10-05||2015-11-09|BC012918||2707|ENSG00000188910|9843210_%2C__%20_9704026|NM_024009|314_%7C_1152|Gap_%20_junction_%20_proteins_%7C_Deafness_%20_associated_%20_genes|CCDS384|OTTHUMG00000004051|2707|603324|NM_001005752|O75712|ENSG00000188910|uc001bxx.4|CXB3_HUMAN||B2R790_%7C_Q2TAZ8|O75712|cell_%20_communication_%20_(GO:0007154)_%7C_in_%20_utero_%20_embryonic_%20_development_%20_(GO:0001701)_%7C_placenta_%20_development_%20_(GO:0001890)_%7C_sensory_%20_perception_%20_of_%20_sound_%20_(GO:0007605)_%7C_skin_%20_development_%20_(GO:0043588)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|connexon_%20_complex_%20_(GO:0005922)_%7C_cytoplasm_%20_(GO:0005737)_%7C_gap_%20_junction_%20_(GO:0005921)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|gap_%20_junction_%20_channel_%20_activity_%20_(GO:0005243)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 35253376 rs483721 C T . PASS FUNCOTATION=[RP1-34M23.5|hg19|chr1|35253376|35253376|RNA||SNP|C|C|T|g.chr1:35253376C>T|ENST00000542839.1|-|||c.e1-213G>A|||0.5386533665835411|ACAGGGAATACGGTCAGCATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 35444037 rs4072108 T C . PASS FUNCOTATION=[RP11-244H3.1|hg19|chr1|35444037|35444037|RNA||SNP|T|T|C|g.chr1:35444037T>C|ENST00000417456.1|-|||c.e2+1034A>G|||0.4513715710723192|TCTGGGCATATTCCTACCCTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 35497529 kgp11705169 G A . PASS FUNCOTATION=[ZMYM6|hg19|chr1|35497529|35497529|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:35497529G>A|ENST00000357182.4|-|1|||||0.5685785536159601|CCAACGCAACGACCGGCCAAC|ZMYM6_ENST00000373340.2_FIVE_PRIME_UTR/ZMYM6_ENST00000317538.5_FIVE_PRIME_FLANK/ZMYM6_ENST00000373333.1_FIVE_PRIME_FLANK/ZMYM6_ENST00000487874.1_FIVE_PRIME_FLANK/ZMYM6_ENST00000493328.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||DQ486153|NM_007167.3|NP_009098.3|HGNC:13050|zinc_%20_finger_%20_MYM-type_%20_containing_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZNF258|"zinc_%20_finger_%20_protein_%20_258"|ZNF198L4_%2C__%20_MYM_%2C__%20_Buster2_%2C__%20_ZBED7|"zinc_%20_finger_%2C__%20_BED-type_%20_containing_%20_7"|1p34.3|2016-10-05|2005-09-12|2016-02-15|AF055470||9204|ENSG00000163867|10486218_%2C__%20_23533661|NM_007167|86|Zinc_%20_fingers_%20_MYM-type|CCDS387|OTTHUMG00000004163|9204|613567|NM_007167|O95789|ENSG00000163867|uc001byh.4|ZMYM6_HUMAN||B4DRJ6_%7C_Q32Q23_%7C_Q4G108_%7C_Q5SVZ9_%7C_Q5SW00_%7C_Q69YL4_%7C_Q96IY0_%7C_Q9NWF1_%7C_Q9P2J4|O95789|cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_regulation_%20_of_%20_cell_%20_morphogenesis_%20_(GO:0022604)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 35854642 indel.2376 TG T . PASS FUNCOTATION=[ZMYM4|hg19|chr1|35854643|35854643|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:35854643delG|ENST00000314607.6|+|14|2475|c.2396delG|c.(2395-2397)tgtfs|p.C799fs|0.29925187032418954|GAGTTCTGTTGTGAAGAATGC|ZMYM4_ENST00000373297.2_FRAME_SHIFT_DEL_p.C710fs|||||||||||||||||||||||||335|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(37)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471059|NM_005095.2|NP_005086.2|HGNC:13055|zinc_%20_finger_%20_MYM-type_%20_containing_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZNF262|"zinc_%20_finger_%20_protein_%20_262"|KIAA0425_%2C__%20_ZNF198L3_%2C__%20_MYM||1p34.3|2016-10-05|2005-12-19|2016-02-15|AB007885||9202|ENSG00000146463|10449923|NM_005095|86|Zinc_%20_fingers_%20_MYM-type|CCDS389|OTTHUMG00000004241|9202|613568|NM_005095|Q5VZL5|ENSG00000146463|uc001byt.3|ZMYM4_HUMAN||A0JP19_%7C_A0JP20_%7C_O43308_%7C_Q5T5E1_%7C_Q5T5E2_%7C_Q7L3Q4|Q5VZL5|cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_regulation_%20_of_%20_cell_%20_morphogenesis_%20_(GO:0022604)|cytoplasm_%20_(GO:0005737)_%7C_nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 36291074 indel.2402 CA C . PASS FUNCOTATION=[AGO4|hg19|chr1|36291075|36291075|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:36291075delA|ENST00000373210.3|+|4|712|c.468delA|c.(466-468)acafs|p.R157fs|0.3915211970074813|ATGTTATCACAAGACACCTTC||||||||||||||||||||||||||||||||||CH471059|NM_017629.3|NP_060099.2|HGNC:18424|argonaute_%20_4_%2C__%20_RISC_%20_catalytic_%20_component|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EIF2C4|"eukaryotic_%20_translation_%20_initiation_%20_factor_%20_2C_%2C__%20_4"_%2C__%20_"argonaute_%20_RISC_%20_catalytic_%20_component_%20_4"|hAGO4_%2C__%20_KIAA1567_%2C__%20_FLJ20033|"argonaute_%20_4"|1p34.3|2016-10-05|2013-02-15|2015-11-27|AB046787||192670|ENSG00000134698|12906857|NM_017629|408|Argonaute/PIWI_%20_family|CCDS397|OTTHUMG00000004243|192670|607356|NM_017629|Q9HCK5|ENSG00000134698|uc001bzj.3|AGO4_HUMAN||A7MD27|Q9HCK5|epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_mRNA_%20_catabolic_%20_process_%20_(GO:0006402)_%7C_negative_%20_regulation_%20_of_%20_translation_%20_involved_%20_in_%20_gene_%20_silencing_%20_by_%20_miRNA_%20_(GO:0035278)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)|cytoplasmic_%20_mRNA_%20_processing_%20_body_%20_(GO:0000932)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_micro-ribonucleoprotein_%20_complex_%20_(GO:0035068)_%7C_RISC_%20_complex_%20_(GO:0016442)|miRNA_%20_binding_%20_(GO:0035198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 36558985 exm44727 T G . PASS FUNCOTATION=[ADPRHL2|hg19|chr1|36558985|36558985|NONSTOP||SNP|T|T|G|g.chr1:36558985T>G|ENST00000373178.4|+|6|1120|c.1090T>G|c.(1090-1092)Tga>Gga|p.*364G|0.571072319201995|CCAGAAGAGTTGATGAGGGCT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR457237|NM_017825.2|NP_060295.1|HGNC:21304|ADP-ribosylhydrolase_%20_like_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ARH3_%2C__%20_FLJ20446|"ADP-ribosylarginine_%20_hydrolase_%20_like_%20_2"|1p34.3|2016-06-02|||AJ427295||54936|ENSG00000116863|12070318_%2C__%20_16278211|NM_017825|||CCDS402|OTTHUMG00000007628|54936|610624|NM_017825|Q9NX46|ENSG00000116863|uc001bzt.4|ARHL2_HUMAN||Q53G94_%7C_Q6IAB8_%7C_Q9BY47|Q9NX46||mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_poly(ADP-ribose)_%20_glycohydrolase_%20_activity_%20_(GO:0004649)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|ADPRHL2:54936|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|183554661|36558985|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000205040436000100|1|false|135|rs183554661|] -chr1 36789546 rs12116935 A G . PASS FUNCOTATION=[RP11-268J15.5|hg19|chr1|36789546|36789546|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:36789546A>G|ENST00000373137.2|+|1|||||0.5935162094763092|CGCAGATCAAATAAACGGAGT|EVA1B_ENST00000270824.1_FIVE_PRIME_UTR/SH3D21_ENST00000474766.1_INTRON/EVA1B_ENST00000490466.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||AY240960||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 36929988 rs3806289 T C . PASS FUNCOTATION=[MRPS15|hg19|chr1|36929988|36929988|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:36929988T>C|ENST00000373116.5|-|1|||||0.6384039900249376|ATCGAGGCAGTTGCAATACCG|MRPS15_ENST00000488606.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471059|NM_031280.3|NP_112570.2|HGNC:14504|mitochondrial_%20_ribosomal_%20_protein_%20_S15|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ11564||1p34.3|2015-08-25|||AB049946||64960|ENSG00000116898||NM_031280|646|Mitochondrial_%20_ribosomal_%20_proteins|CCDS411|OTTHUMG00000008042|64960|611979|NM_031280|P82914|ENSG00000116898|uc001cas.3|RT15_HUMAN||B2RD82_%7C_Q9H2K1|P82914|translation_%20_(GO:0006412)|mitochondrial_%20_small_%20_ribosomal_%20_subunit_%20_(GO:0005763)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nuclear_%20_membrane_%20_(GO:0031965)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_structural_%20_constituent_%20_of_%20_ribosome_%20_(GO:0003735)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 37922859 rs2660569 C T . PASS FUNCOTATION=[RP11-422J8.1|hg19|chr1|37922859|37922859|RNA||SNP|C|C|T|g.chr1:37922859C>T|ENST00000424989.1|-|||c.e2+799G>A|||0.46384039900249374|TCATCTCATCCGCTTTAGGGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 37939094 rs6681785 C T . PASS FUNCOTATION=[ZC3H12A|hg19|chr1|37939094|37939094|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:37939094C>T|ENST00000373087.6|+||||||0.44139650872817954|TCTGTGTTTTCTCTCTCTCTC|RP11-422J8.1_ENST00000424989.1_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||FJ695517|NM_025079.2|NP_079355.2|HGNC:26259|zinc_%20_finger_%20_CCCH-type_%20_containing_%20_12A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ23231_%2C__%20_MCPIP1|"MCP_%20_induced_%20_protein_%20_1"|1p34.3|2014-11-19|||||80149|ENSG00000163874|18178554_%2C__%20_22055188|NM_025079|73|Zinc_%20_fingers_%20_CCCH-type|CCDS417|OTTHUMG00000004221|80149|610562|NM_001323550|Q5D1E8|ENSG00000163874|uc001cbb.5|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 37939173 rs2492301 T C . PASS FUNCOTATION=[ZC3H12A|hg19|chr1|37939173|37939173|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:37939173T>C|ENST00000373087.6|+||||||0.49625935162094764|CTGCCCTCAGTCACTCGTGGT|RP11-422J8.1_ENST00000424989.1_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||FJ695517|NM_025079.2|NP_079355.2|HGNC:26259|zinc_%20_finger_%20_CCCH-type_%20_containing_%20_12A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ23231_%2C__%20_MCPIP1|"MCP_%20_induced_%20_protein_%20_1"|1p34.3|2014-11-19|||||80149|ENSG00000163874|18178554_%2C__%20_22055188|NM_025079|73|Zinc_%20_fingers_%20_CCCH-type|CCDS417|OTTHUMG00000004221|80149|610562|NM_001323550|Q5D1E8|ENSG00000163874|uc001cbb.5|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 38456106 rs4072980 G A . PASS FUNCOTATION=[SF3A3|hg19|chr1|38456106|38456106|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:38456106G>A|ENST00000373019.4|-|1|||||0.5386533665835411|AGGAAAATGGGAATAGTGGGG|SF3A3_ENST00000448721.2_FIVE_PRIME_FLANK/RNU6-510P_ENST00000391239.1_FIVE_PRIME_FLANK/SF3A3_ENST00000489537.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||X81789|NM_006802.2|NP_006793.1|HGNC:10767|splicing_%20_factor_%20_3a_%20_subunit_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"splicing_%20_factor_%20_3a_%2C__%20_subunit_%20_3_%2C__%20_60kD"_%2C__%20_"splicing_%20_factor_%20_3a_%2C__%20_subunit_%20_3_%2C__%20_60kDa"|SF3a60_%2C__%20_SAP61_%2C__%20_PRP9_%2C__%20_PRPF9||1p34.3|2015-11-09||2015-11-09|U08815||10946|ENSG00000183431|7816610_%2C__%20_8022796|NM_006802|1501|U2_%20_small_%20_nucleolar_%20_ribonucleoprotein_%20_|CCDS428|OTTHUMG00000004438|10946|605596|NM_001320830|Q12874|ENSG00000183431|uc001cci.4|SF3A3_HUMAN||D3DPT5_%7C_Q15460_%7C_Q5VT87|Q12874|gene_%20_expression_%20_(GO:0010467)_%7C_mRNA_%20_3'-splice_%20_site_%20_recognition_%20_(GO:0000389)_%7C_mRNA_%20_processing_%20_(GO:0006397)_%7C_mRNA_%20_splicing_%2C__%20_via_%20_spliceosome_%20_(GO:0000398)_%7C_RNA_%20_splicing_%20_(GO:0008380)_%7C_RNA_%20_splicing_%2C__%20_via_%20_transesterification_%20_reactions_%20_(GO:0000375)|catalytic_%20_step_%20_2_%20_spliceosome_%20_(GO:0071013)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_spliceosomal_%20_complex_%20_(GO:0005681)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 39305315 indel.2566 AC A . PASS FUNCOTATION=[RRAGC|hg19|chr1|39305316|39305316|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:39305316delC|ENST00000373001.3|-|7|1287|c.1109delG|c.(1108-1110)ggtfs|p.G370fs|0.4688279301745636|AGAAGTCACACCCACCTCAAA|RRAGC_ENST00000474456.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_022157.3|NP_071440.1|HGNC:19902|Ras_%20_related_%20_GTP_%20_binding_%20_C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Ras-related_%20_GTP_%20_binding_%20_C"|GTR2_%2C__%20_FLJ13311||1p34.3|2016-10-05||2016-02-23|AF323609||64121|ENSG00000116954|11073942|NM_022157|||CCDS430|OTTHUMG00000000490|64121|608267|NM_001271851|Q9HB90|ENSG00000116954|uc001ccq.4|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 39350742 rs4970633 C T . PASS FUNCOTATION=[GJA9|hg19|chr1|39350742|39350742|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:39350742C>T|ENST00000357771.3|-||||||0.32917705735660846|CTATATCTAACTAAGTGTATA|GJA9_ENST00000454994.2_FIVE_PRIME_FLANK/RP5-864K19.4_ENST00000433671.2_RNA/MYCBP_ENST00000489803.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||22|central_nervous_system(22)|||||||CH471059|NM_030772.4|NP_110399.2|HGNC:19155|gap_%20_junction_%20_protein_%20_alpha_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GJA10|"gap_%20_junction_%20_protein_%2C__%20_alpha_%20_10_%2C__%20_59kDa"_%2C__%20_"gap_%20_junction_%20_protein_%2C__%20_alpha_%20_9_%2C__%20_59kDa"|CX59_%2C__%20_CX58|"connexin_%20_59"|1p34.3|2016-10-05|2007-11-06|2015-11-09|AF179597||81025|ENSG00000131233||NM_030772|314|Gap_%20_junction_%20_proteins|CCDS432|OTTHUMG00000000482|81025|611923|NM_030772|P57773|ENSG00000131233|uc057ezp.1|CXA9_HUMAN||B2R722_%7C_B3KVQ2_%7C_Q5TA63_%7C_Q96KG0|P57773|cell_%20_communication_%20_(GO:0007154)|connexon_%20_complex_%20_(GO:0005922)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 39797335 indel.2587 AT A . PASS FUNCOTATION=[MACF1|hg19|chr1|39797336|39797336|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:39797336delT|ENST00000372915.3|+|36|5177|c.5091delT|c.(5089-5091)tatfs|p.R1699fs|0.44139650872817954|TAGAGTCTTATCTTAGAACAT|MACF1_ENST00000567887.1_FRAME_SHIFT_DEL_p.R1731fs/MACF1_ENST00000564288.1_FRAME_SHIFT_DEL_p.R1694fs/MACF1_ENST00000289893.4_FRAME_SHIFT_DEL_p.R134fs/MACF1_ENST00000361689.2_INTRON/MACF1_ENST00000545844.1_INTRON/MACF1_ENST00000317713.7_INTRON/MACF1_ENST00000539005.1_INTRON/MACF1_ENST00000476350.1_INTRON|||||||||||||||||||||||||374|biliary_tract(2)_%7C_breast(50)_%7C_central_nervous_system(45)_%7C_large_intestine(37)_%7C_lung(98)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||AL442071|||HGNC:13664|microtubule-actin_%20_crosslinking_%20_factor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA0465_%2C__%20_ACF7_%2C__%20_ABP620_%2C__%20_KIAA1251_%2C__%20_MACF_%2C__%20_FLJ45612_%2C__%20_FLJ46776|"actin_%20_cross-linking_%20_factor"_%2C__%20_"620_%20_kDa_%20_actin_%20_binding_%20_protein"_%2C__%20_"macrophin_%20_1"_%2C__%20_"trabeculin-alpha"_%2C__%20_"actin_%20_cross-linking_%20_family_%20_protein_%20_7"|1p34.3|2016-10-05|||AB007934||23499|ENSG00000127603|7635207_%2C__%20_10529403|NM_033044|939_%7C_863|Plakins_%7C_EF-hand_%20_domain_%20_containing|CCDS435|OTTHUMG00000007754|23499|608271|NM_012090|Q9UPN3|ENSG00000127603|uc057ezw.1|MACF1_HUMAN||B1ALC5_%7C_E9PJT0_%7C_O75053_%7C_Q5VW20_%7C_Q8WXY1_%7C_Q8WXY2_%7C_Q96PK2_%7C_Q9H540_%7C_Q9UKP0_%7C_Q9ULG9|Q9UPN3|ATP_%20_catabolic_%20_process_%20_(GO:0006200)_%7C_cell_%20_cycle_%20_arrest_%20_(GO:0007050)_%7C_Golgi_%20_to_%20_plasma_%20_membrane_%20_protein_%20_transport_%20_(GO:0043001)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_regulation_%20_of_%20_epithelial_%20_cell_%20_migration_%20_(GO:0010632)_%7C_regulation_%20_of_%20_focal_%20_adhesion_%20_assembly_%20_(GO:0051893)_%7C_regulation_%20_of_%20_microtubule-based_%20_process_%20_(GO:0032886)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055)_%7C_wound_%20_healing_%20_(GO:0042060)|cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_microtubule_%20_(GO:0005874)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_ruffle_%20_membrane_%20_(GO:0032587)|actin_%20_binding_%20_(GO:0003779)_%7C_actin_%20_filament_%20_binding_%20_(GO:0051015)_%7C_ATPase_%20_activity_%20_(GO:0016887)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 39800498 indel.2592 TG T . PASS FUNCOTATION=[MACF1|hg19|chr1|39800499|39800499|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:39800499delG|ENST00000372915.3|+|36|8340|c.8254delG|c.(8254-8256)gagfs|p.E2752fs|0.38902743142144636|AGAAGCTATTGAGAAAAGACT|MACF1_ENST00000567887.1_FRAME_SHIFT_DEL_p.E2784fs/MACF1_ENST00000564288.1_FRAME_SHIFT_DEL_p.E2747fs/MACF1_ENST00000289893.4_FRAME_SHIFT_DEL_p.E1187fs/MACF1_ENST00000361689.2_INTRON/MACF1_ENST00000545844.1_INTRON/MACF1_ENST00000317713.7_INTRON/MACF1_ENST00000539005.1_INTRON/MACF1_ENST00000476350.1_INTRON|||||||||||||||||||||||||374|biliary_tract(2)_%7C_breast(50)_%7C_central_nervous_system(45)_%7C_large_intestine(37)_%7C_lung(98)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||AL442071|||HGNC:13664|microtubule-actin_%20_crosslinking_%20_factor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA0465_%2C__%20_ACF7_%2C__%20_ABP620_%2C__%20_KIAA1251_%2C__%20_MACF_%2C__%20_FLJ45612_%2C__%20_FLJ46776|"actin_%20_cross-linking_%20_factor"_%2C__%20_"620_%20_kDa_%20_actin_%20_binding_%20_protein"_%2C__%20_"macrophin_%20_1"_%2C__%20_"trabeculin-alpha"_%2C__%20_"actin_%20_cross-linking_%20_family_%20_protein_%20_7"|1p34.3|2016-10-05|||AB007934||23499|ENSG00000127603|7635207_%2C__%20_10529403|NM_033044|939_%7C_863|Plakins_%7C_EF-hand_%20_domain_%20_containing|CCDS435|OTTHUMG00000007754|23499|608271|NM_012090|Q9UPN3|ENSG00000127603|uc057ezw.1|MACF1_HUMAN||B1ALC5_%7C_E9PJT0_%7C_O75053_%7C_Q5VW20_%7C_Q8WXY1_%7C_Q8WXY2_%7C_Q96PK2_%7C_Q9H540_%7C_Q9UKP0_%7C_Q9ULG9|Q9UPN3|ATP_%20_catabolic_%20_process_%20_(GO:0006200)_%7C_cell_%20_cycle_%20_arrest_%20_(GO:0007050)_%7C_Golgi_%20_to_%20_plasma_%20_membrane_%20_protein_%20_transport_%20_(GO:0043001)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_regulation_%20_of_%20_epithelial_%20_cell_%20_migration_%20_(GO:0010632)_%7C_regulation_%20_of_%20_focal_%20_adhesion_%20_assembly_%20_(GO:0051893)_%7C_regulation_%20_of_%20_microtubule-based_%20_process_%20_(GO:0032886)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055)_%7C_wound_%20_healing_%20_(GO:0042060)|cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_microtubule_%20_(GO:0005874)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_ruffle_%20_membrane_%20_(GO:0032587)|actin_%20_binding_%20_(GO:0003779)_%7C_actin_%20_filament_%20_binding_%20_(GO:0051015)_%7C_ATPase_%20_activity_%20_(GO:0016887)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 39806577 indel.2597 CA C . PASS FUNCOTATION=[MACF1|hg19|chr1|39806578|39806578|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:39806578delA|ENST00000372915.3|+|39|10635|c.10549delA|c.(10549-10551)agtfs|p.S3517fs|0.3915211970074813|GGGATCTAACAGTGAAATAGA|MACF1_ENST00000567887.1_FRAME_SHIFT_DEL_p.S3549fs/MACF1_ENST00000564288.1_FRAME_SHIFT_DEL_p.S3512fs/MACF1_ENST00000289893.4_FRAME_SHIFT_DEL_p.S1952fs/MACF1_ENST00000361689.2_INTRON/MACF1_ENST00000545844.1_INTRON/MACF1_ENST00000317713.7_INTRON/MACF1_ENST00000539005.1_INTRON/MACF1_ENST00000476350.1_INTRON|||||||||||||||||||||||||374|biliary_tract(2)_%7C_breast(50)_%7C_central_nervous_system(45)_%7C_large_intestine(37)_%7C_lung(98)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||AL442071|||HGNC:13664|microtubule-actin_%20_crosslinking_%20_factor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA0465_%2C__%20_ACF7_%2C__%20_ABP620_%2C__%20_KIAA1251_%2C__%20_MACF_%2C__%20_FLJ45612_%2C__%20_FLJ46776|"actin_%20_cross-linking_%20_factor"_%2C__%20_"620_%20_kDa_%20_actin_%20_binding_%20_protein"_%2C__%20_"macrophin_%20_1"_%2C__%20_"trabeculin-alpha"_%2C__%20_"actin_%20_cross-linking_%20_family_%20_protein_%20_7"|1p34.3|2016-10-05|||AB007934||23499|ENSG00000127603|7635207_%2C__%20_10529403|NM_033044|939_%7C_863|Plakins_%7C_EF-hand_%20_domain_%20_containing|CCDS435|OTTHUMG00000007754|23499|608271|NM_012090|Q9UPN3|ENSG00000127603|uc057ezw.1|MACF1_HUMAN||B1ALC5_%7C_E9PJT0_%7C_O75053_%7C_Q5VW20_%7C_Q8WXY1_%7C_Q8WXY2_%7C_Q96PK2_%7C_Q9H540_%7C_Q9UKP0_%7C_Q9ULG9|Q9UPN3|ATP_%20_catabolic_%20_process_%20_(GO:0006200)_%7C_cell_%20_cycle_%20_arrest_%20_(GO:0007050)_%7C_Golgi_%20_to_%20_plasma_%20_membrane_%20_protein_%20_transport_%20_(GO:0043001)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_regulation_%20_of_%20_epithelial_%20_cell_%20_migration_%20_(GO:0010632)_%7C_regulation_%20_of_%20_focal_%20_adhesion_%20_assembly_%20_(GO:0051893)_%7C_regulation_%20_of_%20_microtubule-based_%20_process_%20_(GO:0032886)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055)_%7C_wound_%20_healing_%20_(GO:0042060)|cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_microtubule_%20_(GO:0005874)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_ruffle_%20_membrane_%20_(GO:0032587)|actin_%20_binding_%20_(GO:0003779)_%7C_actin_%20_filament_%20_binding_%20_(GO:0051015)_%7C_ATPase_%20_activity_%20_(GO:0016887)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 39992808 rs1180341 T C . PASS FUNCOTATION=[RP11-69E11.4|hg19|chr1|39992808|39992808|RNA||SNP|T|T|C|g.chr1:39992808T>C|ENST00000458207.1|-|||c.e2-1880A>G|||0.5610972568578554|CCACCAAAATTGGCGTCACCC|RP11-69E11.4_ENST00000440190.1_RNA/RP11-69E11.4_ENST00000450157.1_RNA/RP11-69E11.4_ENST00000431553.1_RNA/RP11-69E11.4_ENST00000417869.1_RNA/RP11-69E11.4_ENST00000331856.2_FIVE_PRIME_FLANK/RP11-69E11.4_ENST00000441741.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 40546155 exm48877 C T . PASS FUNCOTATION=[PPT1|hg19|chr1|40546155|40546155|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:40546155C>T|ENST00000530076.1|-|2|||||0.5012468827930174|TCGGCTTGCACGAGGCTGTAG|PPT1_ENST00000433473.3_MISSENSE_p.V181M/PPT1_ENST00000449045.2_MISSENSE_p.V78M/PPT1_ENST00000372775.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(12)_%7C_pancreas(22)|||||||AL512599|||HGNC:9325|palmitoyl-protein_%20_thioesterase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PPT||CLN1_%2C__%20_INCL|"ceroid-lipofuscinosis_%2C__%20_neuronal_%20_1_%2C__%20_infantile"|1p34.2|2017-03-24||2008-07-31|U44772|3.1.2.22|5538|ENSG00000131238|7637805_%2C__%20_8325646|NM_000310|||CCDS447_%2C__%20_CCDS44119|OTTHUMG00000004495|5538|600722|NM_000310|P50897|ENSG00000131238|uc001cfb.3|PPT1_HUMAN||B4DY24_%7C_Q6FGQ4|P50897|adult_%20_locomotory_%20_behavior_%20_(GO:0008344)_%7C_associative_%20_learning_%20_(GO:0008306)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_cell_%20_death_%20_(GO:0008219)_%7C_cellular_%20_protein_%20_catabolic_%20_process_%20_(GO:0044257)_%7C_cofactor_%20_metabolic_%20_process_%20_(GO:0051186)_%7C_cofactor_%20_transport_%20_(GO:0051181)_%7C_grooming_%20_behavior_%20_(GO:0007625)_%7C_lipid_%20_catabolic_%20_process_%20_(GO:0016042)_%7C_lysosomal_%20_lumen_%20_acidification_%20_(GO:0007042)_%7C_membrane_%20_raft_%20_organization_%20_(GO:0031579)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_neuron_%20_development_%20_(GO:0048666)_%7C_neurotransmitter_%20_secretion_%20_(GO:0007269)_%7C_pinocytosis_%20_(GO:0006907)_%7C_positive_%20_regulation_%20_of_%20_pinocytosis_%20_(GO:0048549)_%7C_positive_%20_regulation_%20_of_%20_receptor-mediated_%20_endocytosis_%20_(GO:0048260)_%7C_protein_%20_catabolic_%20_process_%20_(GO:0030163)_%7C_protein_%20_depalmitoylation_%20_(GO:0002084)_%7C_protein_%20_transport_%20_(GO:0015031)_%7C_receptor-mediated_%20_endocytosis_%20_(GO:0006898)_%7C_regulation_%20_of_%20_phospholipase_%20_A2_%20_activity_%20_(GO:0032429)_%7C_regulation_%20_of_%20_synapse_%20_structure_%20_and_%20_activity_%20_(GO:0050803)_%7C_sphingolipid_%20_catabolic_%20_process_%20_(GO:0030149)_%7C_visual_%20_perception_%20_(GO:0007601)|axon_%20_(GO:0030424)_%7C_cytosol_%20_(GO:0005829)_%7C_dendrite_%20_(GO:0030425)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_lysosome_%20_(GO:0005764)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_nucleus_%20_(GO:0005634)_%7C_synaptic_%20_vesicle_%20_(GO:0008021)|palmitoyl-(protein)_%20_hydrolase_%20_activity_%20_(GO:0008474)_%7C_palmitoyl-CoA_%20_hydrolase_%20_activity_%20_(GO:0016290)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 40546155 newrs148412181 C T . PASS FUNCOTATION=[PPT1|hg19|chr1|40546155|40546155|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:40546155C>T|ENST00000530076.1|-|2|||||0.5012468827930174|TCGGCTTGCACGAGGCTGTAG|PPT1_ENST00000433473.3_MISSENSE_p.V181M/PPT1_ENST00000449045.2_MISSENSE_p.V78M/PPT1_ENST00000372775.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(12)_%7C_pancreas(22)|||||||AL512599|||HGNC:9325|palmitoyl-protein_%20_thioesterase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PPT||CLN1_%2C__%20_INCL|"ceroid-lipofuscinosis_%2C__%20_neuronal_%20_1_%2C__%20_infantile"|1p34.2|2017-03-24||2008-07-31|U44772|3.1.2.22|5538|ENSG00000131238|7637805_%2C__%20_8325646|NM_000310|||CCDS447_%2C__%20_CCDS44119|OTTHUMG00000004495|5538|600722|NM_000310|P50897|ENSG00000131238|uc001cfb.3|PPT1_HUMAN||B4DY24_%7C_Q6FGQ4|P50897|adult_%20_locomotory_%20_behavior_%20_(GO:0008344)_%7C_associative_%20_learning_%20_(GO:0008306)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_cell_%20_death_%20_(GO:0008219)_%7C_cellular_%20_protein_%20_catabolic_%20_process_%20_(GO:0044257)_%7C_cofactor_%20_metabolic_%20_process_%20_(GO:0051186)_%7C_cofactor_%20_transport_%20_(GO:0051181)_%7C_grooming_%20_behavior_%20_(GO:0007625)_%7C_lipid_%20_catabolic_%20_process_%20_(GO:0016042)_%7C_lysosomal_%20_lumen_%20_acidification_%20_(GO:0007042)_%7C_membrane_%20_raft_%20_organization_%20_(GO:0031579)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_neuron_%20_development_%20_(GO:0048666)_%7C_neurotransmitter_%20_secretion_%20_(GO:0007269)_%7C_pinocytosis_%20_(GO:0006907)_%7C_positive_%20_regulation_%20_of_%20_pinocytosis_%20_(GO:0048549)_%7C_positive_%20_regulation_%20_of_%20_receptor-mediated_%20_endocytosis_%20_(GO:0048260)_%7C_protein_%20_catabolic_%20_process_%20_(GO:0030163)_%7C_protein_%20_depalmitoylation_%20_(GO:0002084)_%7C_protein_%20_transport_%20_(GO:0015031)_%7C_receptor-mediated_%20_endocytosis_%20_(GO:0006898)_%7C_regulation_%20_of_%20_phospholipase_%20_A2_%20_activity_%20_(GO:0032429)_%7C_regulation_%20_of_%20_synapse_%20_structure_%20_and_%20_activity_%20_(GO:0050803)_%7C_sphingolipid_%20_catabolic_%20_process_%20_(GO:0030149)_%7C_visual_%20_perception_%20_(GO:0007601)|axon_%20_(GO:0030424)_%7C_cytosol_%20_(GO:0005829)_%7C_dendrite_%20_(GO:0030425)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_lysosome_%20_(GO:0005764)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_nucleus_%20_(GO:0005634)_%7C_synaptic_%20_vesicle_%20_(GO:0008021)|palmitoyl-(protein)_%20_hydrolase_%20_activity_%20_(GO:0008474)_%7C_palmitoyl-CoA_%20_hydrolase_%20_activity_%20_(GO:0016290)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 40547950 rs3131660 C T . PASS FUNCOTATION=[PPT1|hg19|chr1|40547950|40547950|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:40547950C>T|ENST00000530076.1|-|1|||||0.4513715710723192|ACAGAGCCAGCTACGTCAGAG|PPT1_ENST00000433473.3_INTRON/PPT1_ENST00000449045.2_INTRON/PPT1_ENST00000372775.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(12)_%7C_pancreas(22)|||||||AL512599|||HGNC:9325|palmitoyl-protein_%20_thioesterase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PPT||CLN1_%2C__%20_INCL|"ceroid-lipofuscinosis_%2C__%20_neuronal_%20_1_%2C__%20_infantile"|1p34.2|2017-03-24||2008-07-31|U44772|3.1.2.22|5538|ENSG00000131238|7637805_%2C__%20_8325646|NM_000310|||CCDS447_%2C__%20_CCDS44119|OTTHUMG00000004495|5538|600722|NM_000310|P50897|ENSG00000131238|uc001cfb.3|PPT1_HUMAN||B4DY24_%7C_Q6FGQ4|P50897|adult_%20_locomotory_%20_behavior_%20_(GO:0008344)_%7C_associative_%20_learning_%20_(GO:0008306)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_cell_%20_death_%20_(GO:0008219)_%7C_cellular_%20_protein_%20_catabolic_%20_process_%20_(GO:0044257)_%7C_cofactor_%20_metabolic_%20_process_%20_(GO:0051186)_%7C_cofactor_%20_transport_%20_(GO:0051181)_%7C_grooming_%20_behavior_%20_(GO:0007625)_%7C_lipid_%20_catabolic_%20_process_%20_(GO:0016042)_%7C_lysosomal_%20_lumen_%20_acidification_%20_(GO:0007042)_%7C_membrane_%20_raft_%20_organization_%20_(GO:0031579)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_neuron_%20_development_%20_(GO:0048666)_%7C_neurotransmitter_%20_secretion_%20_(GO:0007269)_%7C_pinocytosis_%20_(GO:0006907)_%7C_positive_%20_regulation_%20_of_%20_pinocytosis_%20_(GO:0048549)_%7C_positive_%20_regulation_%20_of_%20_receptor-mediated_%20_endocytosis_%20_(GO:0048260)_%7C_protein_%20_catabolic_%20_process_%20_(GO:0030163)_%7C_protein_%20_depalmitoylation_%20_(GO:0002084)_%7C_protein_%20_transport_%20_(GO:0015031)_%7C_receptor-mediated_%20_endocytosis_%20_(GO:0006898)_%7C_regulation_%20_of_%20_phospholipase_%20_A2_%20_activity_%20_(GO:0032429)_%7C_regulation_%20_of_%20_synapse_%20_structure_%20_and_%20_activity_%20_(GO:0050803)_%7C_sphingolipid_%20_catabolic_%20_process_%20_(GO:0030149)_%7C_visual_%20_perception_%20_(GO:0007601)|axon_%20_(GO:0030424)_%7C_cytosol_%20_(GO:0005829)_%7C_dendrite_%20_(GO:0030425)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_lysosome_%20_(GO:0005764)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_nucleus_%20_(GO:0005634)_%7C_synaptic_%20_vesicle_%20_(GO:0008021)|palmitoyl-(protein)_%20_hydrolase_%20_activity_%20_(GO:0008474)_%7C_palmitoyl-CoA_%20_hydrolase_%20_activity_%20_(GO:0016290)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 40717196 var_1_40717196 CT C . PASS FUNCOTATION=[TMCO2|hg19|chr1|40717197|40717197|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:40717197delT|ENST00000372766.3|+|2|572|c.480delT|c.(478-480)tctfs|p.E161fs|0.43640897755610975|ATTGCTCCTCTGAGCCCTACT|TMCO2_ENST00000468258.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC108666|NM_001008740.3|NP_001008740.1|HGNC:23312|transmembrane_%20_and_%20_coiled-coil_%20_domains_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||dJ39G22.2||1p34.2|2015-08-26|||AL050341||127391|ENSG00000188800||NM_001008740|||CCDS30684|OTTHUMG00000005764|127391||NM_001008740|Q7Z6W1|ENSG00000188800|uc001cfe.3|TMCO2_HUMAN|||Q7Z6W1||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 40722795 rs926830 G A . PASS FUNCOTATION=[ZMPSTE24|hg19|chr1|40722795|40722795|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:40722795G>A|ENST00000372759.3|+||||||0.3092269326683292|GCAGGGTTGAGAAATTCAAGA|RP1-39G22.7_ENST00000567508.1_RNA/ZMPSTE24_ENST00000479131.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||Y13834|NM_005857.4|NP_005848.2|HGNC:12877|zinc_%20_metallopeptidase_%20_STE24|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"zinc_%20_metalloproteinase_%20_(STE24_%20_homolog_%2C__%20_yeast)"_%2C__%20_"zinc_%20_metallopeptidase_%20_(STE24_%20_homolog_%2C__%20_yeast)"_%2C__%20_"zinc_%20_metallopeptidase_%20_STE24_%20_homolog_%20_(S._%20_cerevisiae)"|FACE-1_%2C__%20_Ste24p_%2C__%20_STE24_%2C__%20_HGPS_%2C__%20_PRO1|"Hutchinson-Gilford_%20_progeria_%20_syndrome"_%2C__%20_"CAAX_%20_prenyl_%20_protease_%20_1_%20_homolog"|1p34.2|2017-03-24||2012-12-10|Y13834|3.4.24.84|10269|ENSG00000084073|10373325_%2C__%20_9700155_%2C__%20_16671095||||CCDS449|OTTHUMG00000005762|10269|606480|NM_005857|O75844|ENSG00000084073|uc001cfg.5|FACE1_HUMAN||B3KQI7_%7C_D3DPU7_%7C_Q8NDZ8_%7C_Q9UBQ2|O75844|CAAX-box_%20_protein_%20_processing_%20_(GO:0071586)_%7C_nuclear_%20_envelope_%20_organization_%20_(GO:0006998)_%7C_prenylated_%20_protein_%20_catabolic_%20_process_%20_(GO:0030327)_%7C_proteolysis_%20_(GO:0006508)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_metalloexopeptidase_%20_activity_%20_(GO:0008235)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 40930624 rs2982502 A G . PASS FUNCOTATION=[RP1-228H13.5|hg19|chr1|40930624|40930624|RNA||SNP|A|A|G|g.chr1:40930624A>G|ENST00000565390.1|+|||c.e1+633A>G|||0.43640897755610975|CCTTGGCACTACCAATATTTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 40961344 indel.2695 TA T . PASS FUNCOTATION=[ZFP69|hg19|chr1|40961345|40961345|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:40961345delA|ENST00000372706.1|+|6|2200|c.1195delA|c.(1195-1197)agtfs|p.S399fs|0.4114713216957606|TAGACACCTTAGTGAACATAT|ZFP69_ENST00000372705.3_FRAME_SHIFT_DEL_p.S399fs/RP11-656D10.3_ENST00000450713.1_RNA|||||||||||||||||||||||||||||||||BC041873|||HGNC:24708|ZFP69_%20_zinc_%20_finger_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZNF642|"zinc_%20_finger_%20_protein_%20_642"|ZKSCAN23A_%2C__%20_FLJ16030_%2C__%20_ZFP69A_%2C__%20_ZSCAN54A|"ZFP69_%20_zinc_%20_finger_%20_protein_%20_A"|1p34.2|2014-11-19|2012-11-27|2012-11-27|AK122618||339559|ENSG00000187815||NM_198494|42_%7C_28|SCAN_%20_domain_%20_containing_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS30686|OTTHUMG00000007303|339559||NM_001320178|Q49AA0|ENSG00000187815|uc009vwb.4|ZFP69_HUMAN||Q5SWM5_%7C_Q6ZWK8|Q49AA0|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 40966167 rs7511983 C T . PASS FUNCOTATION=[RP11-656D10.3|hg19|chr1|40966167|40966167|RNA||SNP|C|C|T|g.chr1:40966167C>T|ENST00000450713.1|-|||c.e2+6807G>A|||0.428927680798005|AGGTCAGGTGCCAACCCTTAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 40974156 rs3795347 T C . PASS FUNCOTATION=[EXO5|hg19|chr1|40974156|40974156|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:40974156T>C|ENST00000296380.4|+||||||0.5561097256857855|CTTGCTCGGATTGTCCCGGTG|EXO5_ENST00000358527.2_FIVE_PRIME_FLANK/EXO5_ENST00000372703.1_FIVE_PRIME_FLANK/RP11-656D10.3_ENST00000450713.1_RNA/EXO5_ENST00000471429.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CH471059|NM_022774.1|NP_073611.1|HGNC:26115|exonuclease_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf176_%2C__%20_DEM1|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_176"_%2C__%20_"defects_%20_in_%20_morphology_%20_1_%20_homolog_%20_(S._%20_cerevisiae)"|FLJ21144||1p34.2|2014-11-19|2012-10-30|2012-10-30|AK024797||64789|ENSG00000164002|23095756|NM_022774|544|Exonucleases|CCDS453|OTTHUMG00000007305|64789||NM_022774|Q9H790|ENSG00000164002|uc001cfp.4|EXO5_HUMAN||D3DPV4_%7C_Q5SWM7_%7C_Q5SWM8_%7C_Q5SWM9_%7C_Q5SWN0_%7C_Q5SWN1_%7C_Q8WTW9|Q9H790|DNA_%20_catabolic_%20_process_%2C__%20_exonucleolytic_%20_(GO:0000738)_%7C_interstrand_%20_cross-link_%20_repair_%20_(GO:0036297)|cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)|4_%20_iron_%2C__%20_4_%20_sulfur_%20_cluster_%20_binding_%20_(GO:0051539)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_single-stranded_%20_DNA_%20_3'-5'_%20_exodeoxyribonuclease_%20_activity_%20_(GO:0008310)_%7C_single-stranded_%20_DNA_%20_5'-3'_%20_exodeoxyribonuclease_%20_activity_%20_(GO:0045145)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 40974799 rs12068587 T C . PASS FUNCOTATION=[EXO5|hg19|chr1|40974799|40974799|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:40974799T>C|ENST00000372703.1|+|1|||||0.6109725685785536|TCCCTGTTCTTATTCCTGGCT|EXO5_ENST00000296380.4_INTRON/EXO5_ENST00000358527.2_INTRON/EXO5_ENST00000471429.1_INTRON/RP11-656D10.3_ENST00000450713.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CH471059|||HGNC:26115|exonuclease_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf176_%2C__%20_DEM1|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_176"_%2C__%20_"defects_%20_in_%20_morphology_%20_1_%20_homolog_%20_(S._%20_cerevisiae)"|FLJ21144||1p34.2|2014-11-19|2012-10-30|2012-10-30|AK024797||64789|ENSG00000164002|23095756|NM_022774|544|Exonucleases|CCDS453|OTTHUMG00000007305|64789||NM_022774|Q9H790|ENSG00000164002|uc001cfp.4|EXO5_HUMAN||D3DPV4_%7C_Q5SWM7_%7C_Q5SWM8_%7C_Q5SWM9_%7C_Q5SWN0_%7C_Q5SWN1_%7C_Q8WTW9|Q9H790|DNA_%20_catabolic_%20_process_%2C__%20_exonucleolytic_%20_(GO:0000738)_%7C_interstrand_%20_cross-link_%20_repair_%20_(GO:0036297)|cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)|4_%20_iron_%2C__%20_4_%20_sulfur_%20_cluster_%20_binding_%20_(GO:0051539)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_single-stranded_%20_DNA_%20_3'-5'_%20_exodeoxyribonuclease_%20_activity_%20_(GO:0008310)_%7C_single-stranded_%20_DNA_%20_5'-3'_%20_exodeoxyribonuclease_%20_activity_%20_(GO:0045145)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 40980601 indel.2701 CA C . PASS FUNCOTATION=[EXO5|hg19|chr1|40980602|40980602|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:40980602delA|ENST00000372703.1|+|2|1459|c.386delA|c.(385-387)catfs|p.H129fs|0.4713216957605985|CTAGAACTTCATGATCTTGTG|EXO5_ENST00000296380.4_FRAME_SHIFT_DEL_p.H129fs/EXO5_ENST00000358527.2_FRAME_SHIFT_DEL_p.H129fs/RP11-656D10.5_ENST00000453437.1_RNA|||||||||||||||||||||||||||||||||CH471059|||HGNC:26115|exonuclease_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf176_%2C__%20_DEM1|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_176"_%2C__%20_"defects_%20_in_%20_morphology_%20_1_%20_homolog_%20_(S._%20_cerevisiae)"|FLJ21144||1p34.2|2014-11-19|2012-10-30|2012-10-30|AK024797||64789|ENSG00000164002|23095756|NM_022774|544|Exonucleases|CCDS453|OTTHUMG00000007305|64789||NM_022774|Q9H790|ENSG00000164002|uc001cfp.4|EXO5_HUMAN||D3DPV4_%7C_Q5SWM7_%7C_Q5SWM8_%7C_Q5SWM9_%7C_Q5SWN0_%7C_Q5SWN1_%7C_Q8WTW9|Q9H790|DNA_%20_catabolic_%20_process_%2C__%20_exonucleolytic_%20_(GO:0000738)_%7C_interstrand_%20_cross-link_%20_repair_%20_(GO:0036297)|cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)|4_%20_iron_%2C__%20_4_%20_sulfur_%20_cluster_%20_binding_%20_(GO:0051539)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_single-stranded_%20_DNA_%20_3'-5'_%20_exodeoxyribonuclease_%20_activity_%20_(GO:0008310)_%7C_single-stranded_%20_DNA_%20_5'-3'_%20_exodeoxyribonuclease_%20_activity_%20_(GO:0045145)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 41338665 rs1359893 A G . PASS FUNCOTATION=[RP5-1066H13.4|hg19|chr1|41338665|41338665|RNA||SNP|A|A|G|g.chr1:41338665A>G|ENST00000414199.1|+|||c.e3-3474A>G|||0.38154613466334164|TTATTCCCACATCATAAATGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 41461696 indel.2730 GC G . PASS FUNCOTATION=[CTPS1|hg19|chr1|41461697|41461697|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:41461697delC|ENST00000372621.4|+|8|1336|c.829delC|c.(829-831)cagfs|p.Q277fs|0.4314214463840399|TATTGAGAGGCAGCCAAGAAA|CTPS1_ENST00000372616.1_FRAME_SHIFT_DEL_p.Q277fs/CTPS1_ENST00000541520.1_FRAME_SHIFT_DEL_p.Q46fs/CTPS1_ENST00000543104.1_FRAME_SHIFT_DEL_p.Q284fs|||||||||||||||||||||||||||||||||X52142|NM_001905.2|NP_001896.2|HGNC:2519|CTP_%20_synthase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CTPS|"CTP_%20_synthase"|GATD5||1p34.2|2017-03-16|2012-05-02|2012-05-02|BC009408|6.3.4.2|1503|ENSG00000171793|1783378|NM_001905|1408|Glutamine_%20_amidotransferase_%20_like_%20_class_%20_1_%20_domain_%20_containing|CCDS459|OTTHUMG00000005712|1503|123860|NM_001301237|P17812|ENSG00000171793|uc001cgk.5|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 42094498 rs2038976 A G . PASS FUNCOTATION=[HIVEP3|hg19|chr1|42094498|42094498|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:42094498A>G|ENST00000372583.1|-|3|||||0.5112219451371571|GTCCACTCCTACGGCAGCCAC|HIVEP3_ENST00000247584.5_FIVE_PRIME_UTR/HIVEP3_ENST00000372584.1_FIVE_PRIME_UTR/HIVEP3_ENST00000429157.2_FIVE_PRIME_UTR|||||||||||||||||||||||||173|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_lung(3)_%7C_pancreas(22)_%7C_thymus(14)_%7C_upper_aerodigestive_tract(3)|||||||BC152563|NM_024503.4|NP_078779.2|HGNC:13561|human_%20_immunodeficiency_%20_virus_%20_type_%20_I_%20_enhancer_%20_binding_%20_protein_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"human_%20_immunodeficiency_%20_virus_%20_type_%20_I_%20_enhancer-binding_%20_protein_%20_3"|KRC_%2C__%20_KBP1_%2C__%20_KBP-1_%2C__%20_SHN3_%2C__%20_FLJ16752_%2C__%20_KIAA1555_%2C__%20_ZAS3_%2C__%20_Schnurri-3_%2C__%20_ZNF40C|"kappabinding_%20_protein-1"|1p34.2|2016-10-05||2001-11-28|AF278765||59269|ENSG00000127124|11161801|NM_024503|28|Zinc_%20_fingers_%20_C2H2-type|CCDS463_%2C__%20_CCDS44124|OTTHUMG00000006361|59269|606649|NM_001127714|Q5T1R4|ENSG00000127124|uc001cgz.5|ZEP3_HUMAN||A7YY91_%7C_Q5T1R5_%7C_Q9BZS0_%7C_Q9HCL7|Q5T1R4|positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_skeletal_%20_muscle_%20_cell_%20_differentiation_%20_(GO:0035914)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 43004894 indel.2772 CA C . PASS FUNCOTATION=[CCDC30|hg19|chr1|43004895|43004895|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:43004895delA|ENST00000340612.4|+|2|168|c.169delA|c.(169-171)aatfs|p.N57fs|0.30673316708229426|TGAAGTTCACAATCTTCCAGG|CCDC30_ENST00000507855.1_INTRON/CCDC30_ENST00000428554.2_FRAME_SHIFT_DEL_p.N57fs/CCDC30_ENST00000342022.4_FRAME_SHIFT_DEL_p.N57fs/CCDC30_ENST00000390640.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY639646|||HGNC:26103|coiled-coil_%20_domain_%20_containing_%20_30|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ20972_%2C__%20_PFD6L_%2C__%20_LOC728621|"prefoldin_%20_6-like"|1p34.2|2015-08-24|||AY639646||728621|ENSG00000186409|16710767|NM_025030|||CCDS30690|OTTHUMG00000007334|728621||NM_001080850|Q5VVM6|ENSG00000186409|uc057fjg.1|CCD30_HUMAN||Q14F06_%7C_Q5VVM5|Q5VVM6||extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 43021827 indel.2775 TC T . PASS FUNCOTATION=[CCDC30|hg19|chr1|43021828|43021828|SPLICE_SITE|FRAME_SHIFT_DEL|DEL|C|C|-|g.chr1:43021828delC|ENST00000340612.4|+|4|426|c.427delC|c.(427-429)cccfs|p.K144fs|0.38902743142144636|TGCACCAAGTCCCAAATTAGG|CCDC30_ENST00000507855.1_INTRON/CCDC30_ENST00000428554.2_SPLICE_SITE_p.K144fs/CCDC30_ENST00000342022.4_SPLICE_SITE_p.K144fs/CCDC30_ENST00000390640.4_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY639646|||HGNC:26103|coiled-coil_%20_domain_%20_containing_%20_30|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ20972_%2C__%20_PFD6L_%2C__%20_LOC728621|"prefoldin_%20_6-like"|1p34.2|2015-08-24|||AY639646||728621|ENSG00000186409|16710767|NM_025030|||CCDS30690|OTTHUMG00000007334|728621||NM_001080850|Q5VVM6|ENSG00000186409|uc057fjg.1|CCD30_HUMAN||Q14F06_%7C_Q5VVM5|Q5VVM6||extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 43232984 exm51112 T C . PASS FUNCOTATION=[C1orf50|hg19|chr1|43232984|43232984|START_CODON_SNP||SNP|T|T|C|g.chr1:43232984T>C|ENST00000372525.5|+|1|45|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6957605985037406|GGCGCTGTCATGGAGGACGCC|C1orf50_ENST00000536543.1_THREE_PRIME_UTR/LEPRE1_ENST00000236040.4_FIVE_PRIME_FLANK/LEPRE1_ENST00000296388.5_FIVE_PRIME_FLANK/LEPRE1_ENST00000397054.3_FIVE_PRIME_FLANK/C1orf50_ENST00000468913.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC001711|NM_024097.3|NP_077002.2|HGNC:28795|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_50|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC955||1p34.2|2016-10-24|||BC001711||79078|ENSG00000164008|12477932|NM_024097|||CCDS473|OTTHUMG00000191873|79078||NM_024097|Q9BV19|ENSG00000164008|uc001cia.5|CA050_HUMAN|||Q9BV19|||||||true|false|0.9996_%2C_._%2C_0.0003994|false|false|0||false|false|false|P3H1:64175_%7C_C1orf50:79078|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|200116115|43232984|false|false|0|false|0|false|0.999622_%2C_0.000171715_%2C_0.000206058|false|false|false|SNV|true|0x050000020a05040436000100|1|false|137|rs200116115|] -chr1 43610910 rs626842 T G . PASS FUNCOTATION=[FAM183A|hg19|chr1|43610910|43610910|FIVE_PRIME_UTR||SNP|T|T|G|g.chr1:43610910T>G|ENST00000410048.1|+|1|||||0.47880299251870323|TGCAGGGCCATTGACAGAGAA|FAM183A_ENST00000335282.4_FIVE_PRIME_FLANK/FAM183A_ENST00000409337.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||AL139138|||HGNC:34347|family_%20_with_%20_sequence_%20_similarity_%20_183_%20_member_%20_A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"family_%20_with_%20_sequence_%20_similarity_%20_183_%2C__%20_member_%20_A"|LOC440585_%2C__%20_hCG23177||1p34.2|2016-09-30||2015-11-18|AI192630_%2C__%20_AI375550_%2C__%20_AL139138||440585|ENSG00000186973|11181995|NM_001101376|||CCDS44126|OTTHUMG00000007286|440585||NM_001101376|A6NL82|ENSG00000186973|uc009vwo.4|F183A_HUMAN||B7ZBL8|A6NL82|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 43783609 indel.2866 CGGAA C . PASS FUNCOTATION=[TIE1|hg19|chr1|43783610|43783613|FRAME_SHIFT_DEL||DEL|GGAA|GGAA|-|g.chr1:43783610_43783613delGGAA|ENST00000372476.3|+|17|2867_2870|c.2789_2792delGGAA|c.(2788-2793)cggaaafs|p.R930fs|0.5668316831683168|GATTTTCTGCGGAAAAGCCGGGTC|TIE1_ENST00000433781.2_FRAME_SHIFT_DEL_p.R575fs/TIE1_ENST00000473014.1_INTRON|||||||||||||||||||||||||1147|biliary_tract(2)_%7C_breast(201)_%7C_central_nervous_system(60)_%7C_haematopoietic_and_lymphoid_tissue(54)_%7C_kidney(46)_%7C_large_intestine(71)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(49)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||X60957|NM_005424.4|NP_005415.1|HGNC:11809|tyrosine_%20_kinase_%20_with_%20_immunoglobulin_%20_like_%20_and_%20_EGF_%20_like_%20_domains_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TIE|"tyrosine_%20_kinase_%20_with_%20_immunoglobulin_%20_and_%20_epidermal_%20_growth_%20_factor_%20_homology_%20_domains_%20_1"_%2C__%20_"tyrosine_%20_kinase_%20_with_%20_immunoglobulin-like_%20_and_%20_EGF-like_%20_domains_%20_1"|JTK14||1p34.2|2016-10-05|2004-12-14|2016-01-21|BC038239|2.7.10.1|7075|ENSG00000066056|1312667|NM_005424|555_%7C_594_%7C_321|Fibronectin_%20_type_%20_III_%20_domain_%20_containing_%7C_Immunoglobulin_%20_like_%20_domain_%20_containing_%7C_Receptor_%20_Tyrosine_%20_Kinases|CCDS482|OTTHUMG00000007282|7075|600222|NM_001253357|P35590|ENSG00000066056|uc001ciu.4|TIE1_HUMAN||B5A949_%7C_B5A950|P35590|angiogenesis_%20_(GO:0001525)_%7C_in_%20_utero_%20_embryonic_%20_development_%20_(GO:0001701)_%7C_mesoderm_%20_development_%20_(GO:0007498)_%7C_negative_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0016525)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_migration_%20_(GO:0030336)_%7C_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0018108)_%7C_plasma_%20_membrane_%20_fusion_%20_(GO:0045026)_%7C_response_%20_to_%20_retinoic_%20_acid_%20_(GO:0032526)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_vasculogenesis_%20_(GO:0001570)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|ATP_%20_binding_%20_(GO:0005524)_%7C_transmembrane_%20_receptor_%20_protein_%20_tyrosine_%20_kinase_%20_activity_%20_(GO:0004714)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 43854091 exm52079 C G . PASS FUNCOTATION=[MED8|hg19|chr1|43854091|43854091|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:43854091C>G|ENST00000372455.4|-|2|||||0.4837905236907731|CAAGCTGCTTCTCCTCTCTCT|MED8_ENST00000372457.4_MISSENSE_p.E5D/MED8_ENST00000290663.6_MISSENSE_p.E5D/SZT2_ENST00000310739.4_FIVE_PRIME_FLANK/SZT2_ENST00000372450.4_FIVE_PRIME_FLANK/SZT2_ENST00000562955.1_FIVE_PRIME_FLANK/RP1-92O14.6_ENST00000436713.1_RNA|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BG722466|||HGNC:19971|mediator_%20_complex_%20_subunit_%20_8|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"mediator_%20_of_%20_RNA_%20_polymerase_%20_II_%20_transcription_%2C__%20_subunit_%20_8_%20_homolog_%20_(S._%20_cerevisiae)"|MGC17544_%2C__%20_MGC19641_%2C__%20_ARC32||1p34.2|2016-10-05||2007-07-30|AF521562_%2C__%20_BC010543||112950|ENSG00000159479|12149480_%2C__%20_9671713|NM_052877|1061|Mediator_%20_complex|CCDS486_%2C__%20_CCDS487_%2C__%20_CCDS60108|OTTHUMG00000007421|112950|607956|NM_001001653|Q96G25|ENSG00000159479|uc001cjg.6|MED8_HUMAN||A9IZ91_%7C_A9IZ92_%7C_Q5JUY8_%7C_Q96FQ4|Q96G25|gene_%20_expression_%20_(GO:0010467)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)|mediator_%20_complex_%20_(GO:0016592)_%7C_nucleoplasm_%20_(GO:0005654)|RNA_%20_polymerase_%20_II_%20_transcription_%20_cofactor_%20_activity_%20_(GO:0001104)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 44445667 rs3762423 T C . PASS FUNCOTATION=[B4GALT2|hg19|chr1|44445667|44445667|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:44445667T>C|ENST00000356836.6|+|1|||||0.6384039900249376|GTGTGAGCTGTCTGAGAGTCT|B4GALT2_ENST00000372324.1_INTRON/B4GALT2_ENST00000434555.2_INTRON/B4GALT2_ENST00000309519.7_FIVE_PRIME_UTR/B4GALT2_ENST00000481924.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||Y12510|NM_030587.2|NP_085076.2|HGNC:925|beta-1_%2C_4-galactosyltransferase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"UDP-Gal:betaGlcNAc_%20_beta_%20_1_%2C_4-_%20_galactosyltransferase_%2C__%20_polypeptide_%20_2"|beta4Gal-T2||1p34.1|2016-10-05||2016-03-15|AF038660|2.4.1.38|8704|ENSG00000117411|9405390_%2C__%20_9597550|NM_003780|425|Beta_%20_4-glycosyltransferases|CCDS506_%2C__%20_CCDS55596|OTTHUMG00000008296|8704|604013|NM_001005417|O60909|ENSG00000117411|uc001clg.4|B4GT2_HUMAN|N-Acetyl-D-glucosamine(DB00141)|B3KTP0_%7C_B4DE14_%7C_D3DPY6_%7C_D3DPY7_%7C_O60511_%7C_Q4V9L9_%7C_Q5T4X5_%7C_Q5T4Y5_%7C_Q9BUP6_%7C_Q9NSY7|O60909|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_keratan_%20_sulfate_%20_biosynthetic_%20_process_%20_(GO:0018146)_%7C_keratan_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0042339)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)_%7C_protein_%20_N-linked_%20_glycosylation_%20_via_%20_asparagine_%20_(GO:0018279)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|Golgi_%20_membrane_%20_(GO:0000139)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|beta-N-acetylglucosaminylglycopeptide_%20_beta-1_%2C_4-galactosyltransferase_%20_activity_%20_(GO:0003831)_%7C_galactosyltransferase_%20_activity_%20_(GO:0008378)_%7C_lactose_%20_synthase_%20_activity_%20_(GO:0004461)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_N-acetyllactosamine_%20_synthase_%20_activity_%20_(GO:0003945)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 45205606 exm53931 T A . PASS FUNCOTATION=[KIF2C|hg19|chr1|45205606|45205606|START_CODON_SNP||SNP|T|T|A|g.chr1:45205606T>A|ENST00000372224.4|+|1|115|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.5835411471321695|ACTCTCCGAATGGCCATGGAC|KIF2C_ENST00000372218.4_START_CODON_SNP_p.M1K/KIF2C_ENST00000493027.1_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U63743|NM_006845.3|NP_006836.2|HGNC:6393|kinesin_%20_family_%20_member_%20_2C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KNSL6|"kinesin-like_%20_6_%20_(mitotic_%20_centromere-associated_%20_kinesin)"|MCAK_%2C__%20_CT139||1p34.1|2014-11-19|2003-01-17|2003-01-13|U63743||11004|ENSG00000142945|9434124|NM_006845|622|Kinesins|CCDS512_%2C__%20_CCDS72774|OTTHUMG00000008416|11004|604538|NM_001297655|Q99661|ENSG00000142945|uc001cmg.5|KIF2C_HUMAN||B3ITR9_%7C_Q5JR88_%7C_Q6ICU1_%7C_Q96C18_%7C_Q96HB8_%7C_Q9BWV8|Q99661|antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_II_%20_(GO:0019886)_%7C_ATP_%20_catabolic_%20_process_%20_(GO:0006200)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_chromosome_%20_segregation_%20_(GO:0007059)_%7C_establishment_%20_or_%20_maintenance_%20_of_%20_microtubule_%20_cytoskeleton_%20_polarity_%20_(GO:0030951)_%7C_metabolic_%20_process_%20_(GO:0008152)_%7C_microtubule_%20_depolymerization_%20_(GO:0007019)_%7C_microtubule-based_%20_movement_%20_(GO:0007018)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_regulation_%20_of_%20_chromosome_%20_segregation_%20_(GO:0051983)|chromosome_%2C__%20_centromeric_%20_region_%20_(GO:0000775)_%7C_cytosol_%20_(GO:0005829)_%7C_kinesin_%20_complex_%20_(GO:0005871)_%7C_kinetochore_%20_(GO:0000776)_%7C_membrane_%20_(GO:0016020)_%7C_microtubule_%20_cytoskeleton_%20_(GO:0015630)_%7C_microtubule_%20_plus-end_%20_(GO:0035371)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_ATPase_%20_activity_%20_(GO:0016887)_%7C_centromeric_%20_DNA_%20_binding_%20_(GO:0019237)_%7C_microtubule_%20_motor_%20_activity_%20_(GO:0003777)_%7C_microtubule_%20_plus-end_%20_binding_%20_(GO:0051010)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 45241113 rs11211031 T C . PASS FUNCOTATION=[RPS8|hg19|chr1|45241113|45241113|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:45241113T>C|ENST00000396651.3|+|1|||||0.5985037406483791|GAGACCCTCCTAGGCTCGTGG|RPS8_ENST00000372209.3_FIVE_PRIME_FLANK/RP11-269F19.2_ENST00000428791.1_RNA/SNORD46_ENST00000364043.1_FIVE_PRIME_FLANK/SNORD38A_ENST00000365161.1_FIVE_PRIME_FLANK/SNORD38B_ENST00000384690.1_FIVE_PRIME_FLANK/RPS8_ENST00000485390.1_FIVE_PRIME_FLANK/SNORD55_ENST00000581525.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X67247|||HGNC:10441|ribosomal_%20_protein_%20_S8|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||S8||1p34.1|2016-10-05|||BC070875||6202|ENSG00000142937|8432552|NM_001012|728|S_%20_ribosomal_%20_proteins|CCDS513|OTTHUMG00000008494|6202|600357|NM_001012|P62241|ENSG00000142937|uc001cmi.4|RS8_HUMAN||P09058_%7C_Q6IRL7|P62241|cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_maturation_%20_of_%20_SSU-rRNA_%20_from_%20_tricistronic_%20_rRNA_%20_transcript_%20_(SSU-rRNA_%2C__%20_5.8S_%20_rRNA_%2C__%20_LSU-rRNA)_%20_(GO:0000462)_%7C_mRNA_%20_metabolic_%20_process_%20_(GO:0016071)_%7C_nuclear-transcribed_%20_mRNA_%20_catabolic_%20_process_%2C__%20_nonsense-mediated_%20_decay_%20_(GO:0000184)_%7C_RNA_%20_metabolic_%20_process_%20_(GO:0016070)_%7C_SRP-dependent_%20_cotranslational_%20_protein_%20_targeting_%20_to_%20_membrane_%20_(GO:0006614)_%7C_translation_%20_(GO:0006412)_%7C_translational_%20_elongation_%20_(GO:0006414)_%7C_translational_%20_initiation_%20_(GO:0006413)_%7C_translational_%20_termination_%20_(GO:0006415)_%7C_viral_%20_life_%20_cycle_%20_(GO:0019058)_%7C_viral_%20_process_%20_(GO:0016032)_%7C_viral_%20_transcription_%20_(GO:0019083)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_cytosolic_%20_small_%20_ribosomal_%20_subunit_%20_(GO:0022627)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)_%7C_ribonucleoprotein_%20_complex_%20_(GO:0030529)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_structural_%20_constituent_%20_of_%20_ribosome_%20_(GO:0003735)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 45477940 variant.3034 G A . PASS FUNCOTATION=[UROD|hg19|chr1|45477940|45477940|START_CODON_SNP||SNP|G|G|A|g.chr1:45477940G>A|ENST00000246337.4|+|1|122|c.3G>A|c.(1-3)atG>atA|p.M1I|0.543640897755611|AGCTGACCATGGAAGCGAATG|HECTD3_ENST00000372168.3_FIVE_PRIME_FLANK/HECTD3_ENST00000372172.4_FIVE_PRIME_FLANK/UROD_ENST00000494399.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)||||Porphyria_%20_Cutanea_%20_Tarda_%2C__%20_Type_%20_II|PCT-II|Familial_%20_Cancer_%20_Database|X89267|NM_000374.4|NP_000365.3|HGNC:12591|uroporphyrinogen_%20_decarboxylase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p34.1|2017-03-24|||BC001778|4.1.1.37|7389|ENSG00000126088|3015909_%2C__%20_3460962|NM_000374|||CCDS518|OTTHUMG00000008949|7389|613521|NM_000374|P06132|ENSG00000126088|uc001cna.3|DCUP_HUMAN||A8K762_%7C_Q16863_%7C_Q16883_%7C_Q53YB8_%7C_Q53ZP6_%7C_Q6IB28_%7C_Q9BUZ0|P06132|heme_%20_biosynthetic_%20_process_%20_(GO:0006783)_%7C_porphyrin-containing_%20_compound_%20_metabolic_%20_process_%20_(GO:0006778)_%7C_protoporphyrinogen_%20_IX_%20_biosynthetic_%20_process_%20_(GO:0006782)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)|uroporphyrinogen_%20_decarboxylase_%20_activity_%20_(GO:0004853)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 45965246 indel.3113 ATCCAGCTG A . PASS FUNCOTATION=[CCDC163P|hg19|chr1|45965247|45965254|FRAME_SHIFT_DEL||DEL|TCCAGCTG|TCCAGCTG|-|g.chr1:45965247_45965254delTCCAGCTG|ENST00000432082.1|-|1|401_408|c.28_35delCAGCTGGA|c.(28-36)cagctggatfs|p.Q10fs|0.5465686274509803|GAGAAGCACATCCAGCTGCTCAAACCAG|CCDC163P_ENST00000488405.2_FRAME_SHIFT_DEL_p.Q10fs/CCDC163P_ENST00000490551.3_FRAME_SHIFT_DEL_p.Q10fs/MMACHC_ENST00000401061.4_FIVE_PRIME_FLANK/CCDC163P_ENST00000502793.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||AL451136||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 45974886 exm55303 G C . PASS FUNCOTATION=[MMACHC|hg19|chr1|45974886|45974886|NONSTOP||SNP|G|G|C|g.chr1:45974886G>C|ENST00000401061.4|+|4|1128|c.848G>C|c.(847-849)tGa>tCa|p.*283S|0.5112219451371571|CCTGGCCCTTGATTTTCTCCC|MMACHC_ENST00000477188.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC006122|NM_015506.2|NP_056321.2|HGNC:24525|methylmalonic_%20_aciduria_%20_(cobalamin_%20_deficiency)_%20_cblC_%20_type_%2C__%20_with_%20_homocystinuria|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||DKFZP564I122_%2C__%20_cblC||1p34.1|2016-07-08|||||25974|ENSG00000132763|16311595_%2C__%20_19700356_%2C__%20_19801555|NM_015506|||CCDS41324_%2C__%20_CCDS81315|OTTHUMG00000007742|25974|609831|NM_015506|Q9Y4U1|ENSG00000132763|uc009vxv.4|MMAC_HUMAN|Cyanocobalamin(DB00115)_%7C_Hydroxocobalamin(DB00200)|Q5T157_%7C_Q9BRQ7|Q9Y4U1|cobalamin_%20_biosynthetic_%20_process_%20_(GO:0009236)_%7C_cobalamin_%20_metabolic_%20_process_%20_(GO:0009235)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)_%7C_mitochondrion_%20_(GO:0005739)|cobalamin_%20_binding_%20_(GO:0031419)||||true|false||false|false|||false|false|false|MMACHC:25974|false|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201025783|45974886|false|false|0|false|0|false|0.999244_%2C_0.000240401_%2C_0.000515145|false|false|false|SNV|true|0x050000000205040416000100|1|false|137|rs201025783|] -chr1 46032295 var_1_46032295 GC G . PASS FUNCOTATION=[AKR1A1|hg19|chr1|46032296|46032296|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:46032296delC|ENST00000372070.3|+|4|886|c.140delC|c.(139-141)gctfs|p.A47fs|0.5261845386533666|ATTGATTGTGCTGCTATCTAC|AKR1A1_ENST00000351829.4_FRAME_SHIFT_DEL_p.A47fs/AKR1A1_ENST00000471651.1_FRAME_SHIFT_DEL_p.A47fs/AKR1A1_ENST00000473038.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||J04794|NM_006066.3|NP_006057.1|HGNC:380|aldo-keto_%20_reductase_%20_family_%20_1_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"aldo-keto_%20_reductase_%20_family_%20_1_%2C__%20_member_%20_A1_%20_(aldehyde_%20_reductase)"|ALR_%2C__%20_DD3|"dihydrodiol_%20_dehydrogenase_%20_3"_%2C__%20_"aldehyde_%20_reductase"|1p34.1|2016-10-05||2016-06-03|J04794|1.1.1.2|10327|ENSG00000117448|2498333_%2C__%20_10393438|NM_006066|399|Aldo-keto_%20_reductases|CCDS523|OTTHUMG00000007740|10327|103830|NM_001202413|P14550|ENSG00000117448|uc001cod.4|AK1A1_HUMAN|Doxorubicin(DB00997)|A8KAL8_%7C_D3DQ04_%7C_Q6IAZ4|P14550|aldehyde_%20_catabolic_%20_process_%20_(GO:0046185)_%7C_cellular_%20_aldehyde_%20_metabolic_%20_process_%20_(GO:0006081)_%7C_D-glucuronate_%20_catabolic_%20_process_%20_(GO:0042840)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_L-ascorbic_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0019853)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|alditol:NADP+_%20_1-oxidoreductase_%20_activity_%20_(GO:0004032)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_L-glucuronate_%20_reductase_%20_activity_%20_(GO:0047939)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 46086465 indel.3153 CTT C . PASS FUNCOTATION=[CCDC17|hg19|chr1|46086466|46086467|FRAME_SHIFT_DEL||DEL|TT|TT|-|g.chr1:46086466_46086467delTT|ENST00000528266.1|-|12|1788_1789|c.1638_1639delAA|c.(1636-1638)gcafs|p.D548fs|0.5597014925373134|GCTGCATCTCTTGCATTCACCA|CCDC17_ENST00000421127.2_FRAME_SHIFT_DEL_p.D539fs/CCDC17_ENST00000445048.2_INTRON/CCDC17_ENST00000343901.2_FRAME_SHIFT_DEL_p.D516fs|||||||||||||||||||||||||22|central_nervous_system(22)|||||||BC128178|||HGNC:26574|coiled-coil_%20_domain_%20_containing_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ33084||1p34.1|2016-04-25|||||149483|ENSG00000159588||NM_152500|||CCDS44131_%2C__%20_CCDS53314|OTTHUMG00000007822|149483||NM_001114938|Q96LX7|ENSG00000159588|uc010olt.3|CCD17_HUMAN||A1A4Y7_%7C_B4DNX7_%7C_B4E1Q5_%7C_C9J8L2_%7C_Q0P683_%7C_Q5T629|Q96LX7|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 46087133 indel.3158 TC T . PASS FUNCOTATION=[CCDC17|hg19|chr1|46087134|46087134|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:46087134delC|ENST00000528266.1|-|10|1356|c.1207delG|c.(1207-1209)gatfs|p.D403fs|0.600997506234414|CGCAGGAAATCATAGAAAATG|CCDC17_ENST00000421127.2_FRAME_SHIFT_DEL_p.D394fs/CCDC17_ENST00000445048.2_INTRON/CCDC17_ENST00000343901.2_FRAME_SHIFT_DEL_p.D371fs/CCDC17_ENST00000464739.1_INTRON|||||||||||||||||||||||||22|central_nervous_system(22)|||||||BC128178|||HGNC:26574|coiled-coil_%20_domain_%20_containing_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ33084||1p34.1|2016-04-25|||||149483|ENSG00000159588||NM_152500|||CCDS44131_%2C__%20_CCDS53314|OTTHUMG00000007822|149483||NM_001114938|Q96LX7|ENSG00000159588|uc010olt.3|CCD17_HUMAN||A1A4Y7_%7C_B4DNX7_%7C_B4E1Q5_%7C_C9J8L2_%7C_Q0P683_%7C_Q5T629|Q96LX7|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 46120883 indel.3165 CA C . PASS FUNCOTATION=[GPBP1L1|hg19|chr1|46120884|46120884|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:46120884delA|ENST00000290795.3|-|4|1391|c.168delT|c.(166-168)aatfs|p.N56fs|0.4014962593516209|GTAGGGGACCATTGTTAAAAA|GPBP1L1_ENST00000355105.3_FRAME_SHIFT_DEL_p.N56fs|||||||||||||||||||||||GPBP1L1{ENST00000290795}:r.1_125+836_MAST2{ENST00000361297}:r.784_5738(2)||244|biliary_tract(2)_%7C_breast(165)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|||HGNC:28843|GC-rich_%20_promoter_%20_binding_%20_protein_%20_1_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"GC-rich_%20_promoter_%20_binding_%20_protein_%20_1-like_%20_1"|SP192||1p34.1|2016-01-21||2016-01-21|||60313|ENSG00000159592|12477932|NM_021639|||CCDS528|OTTHUMG00000040990|60313||NM_021639|Q9HC44|ENSG00000159592|uc001coq.4|GPBL1_HUMAN||D3DQ10_%7C_Q9H751|Q9HC44|positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 46125880 rs3811436 T C . PASS FUNCOTATION=[GPBP1L1|hg19|chr1|46125880|46125880|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:46125880T>C|ENST00000290795.3|-|2|||||0.428927680798005|TCTGTGGTCCTGTTTCTGAAC|GPBP1L1_ENST00000355105.3_FIVE_PRIME_UTR|||||||||||||||||||||||GPBP1L1{ENST00000290795}:r.1_125+836_MAST2{ENST00000361297}:r.784_5738(2)||244|biliary_tract(2)_%7C_breast(165)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|||HGNC:28843|GC-rich_%20_promoter_%20_binding_%20_protein_%20_1_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"GC-rich_%20_promoter_%20_binding_%20_protein_%20_1-like_%20_1"|SP192||1p34.1|2016-01-21||2016-01-21|||60313|ENSG00000159592|12477932|NM_021639|||CCDS528|OTTHUMG00000040990|60313||NM_021639|Q9HC44|ENSG00000159592|uc001coq.4|GPBL1_HUMAN||D3DQ10_%7C_Q9H751|Q9HC44|positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 46153203 rs3013595 G A . PASS FUNCOTATION=[TMEM69|hg19|chr1|46153203|46153203|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:46153203G>A|ENST00000372025.4|+|1|||||0.5012468827930174|ACACGGAAGGGCACTAAAATT|GPBP1L1_ENST00000290795.3_FIVE_PRIME_FLANK/GPBP1L1_ENST00000355105.3_FIVE_PRIME_FLANK/TMEM69_ENST00000496366.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_016486.3|NP_057570.2|HGNC:28035|transmembrane_%20_protein_%20_69|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf154|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_154"|FLJ21029||1p34.1|2014-11-19|2005-08-17|2005-08-17|BC040289_%2C__%20_BC013608||51249|ENSG00000159596||NM_016486|||CCDS41325|OTTHUMG00000040993|51249||NM_016486|Q5SWH9|ENSG00000159596|uc001cor.2|TMM69_HUMAN||Q3SWW5_%7C_Q7Z2G0_%7C_Q9P0P9|Q5SWH9||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 46158964 indel.3168 CAT C . PASS FUNCOTATION=[TMEM69|hg19|chr1|46158965|46158966|FRAME_SHIFT_DEL||DEL|AT|AT|-|g.chr1:46158965_46158966delAT|ENST00000372025.4|+|3|1288_1289|c.132_133delAT|c.(130-135)ccatgtfs|p.C45fs|0.4129353233830846|ACTTTTCCCCATGTCCAAGGCC|TMEM69_ENST00000496366.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_016486.3|NP_057570.2|HGNC:28035|transmembrane_%20_protein_%20_69|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf154|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_154"|FLJ21029||1p34.1|2014-11-19|2005-08-17|2005-08-17|BC040289_%2C__%20_BC013608||51249|ENSG00000159596||NM_016486|||CCDS41325|OTTHUMG00000040993|51249||NM_016486|Q5SWH9|ENSG00000159596|uc001cor.2|TMM69_HUMAN||Q3SWW5_%7C_Q7Z2G0_%7C_Q9P0P9|Q5SWH9||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 46159031 indel.3170 AT A . PASS FUNCOTATION=[TMEM69|hg19|chr1|46159032|46159032|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:46159032delT|ENST00000372025.4|+|3|1355|c.199delT|c.(199-201)tccfs|p.S67fs|0.42144638403990026|CTATCATACATCCCCCTGCAG|TMEM69_ENST00000496366.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_016486.3|NP_057570.2|HGNC:28035|transmembrane_%20_protein_%20_69|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf154|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_154"|FLJ21029||1p34.1|2014-11-19|2005-08-17|2005-08-17|BC040289_%2C__%20_BC013608||51249|ENSG00000159596||NM_016486|||CCDS41325|OTTHUMG00000040993|51249||NM_016486|Q5SWH9|ENSG00000159596|uc001cor.2|TMM69_HUMAN||Q3SWW5_%7C_Q7Z2G0_%7C_Q9P0P9|Q5SWH9||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 46543210 indel.3212 CT C . PASS FUNCOTATION=[PIK3R3|hg19|chr1|46543211|46543211|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:46543211delT|ENST00000262741.5|-|3|981|c.290delA|c.(289-291)cagfs|p.Q97fs|0.3516209476309227|ATAATCTCCCTGCATTTTTGT|PIK3R3_ENST00000420542.1_FRAME_SHIFT_DEL_p.Q97fs/PIK3R3_ENST00000372006.1_FRAME_SHIFT_DEL_p.Q97fs/PIK3R3_ENST00000423209.1_FRAME_SHIFT_DEL_p.Q97fs/PIK3R3_ENST00000354242.4_FRAME_SHIFT_DEL_p.Q97fs/PIK3R3_ENST00000340332.6_FRAME_SHIFT_DEL_p.Q61fs/PIK3R3_ENST00000540385.1_FRAME_SHIFT_DEL_p.Q143fs|||||||||||||||||||||||||1123|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(172)_%7C_lung(323)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_stomach(14)_%7C_upper_aerodigestive_tract(121)|||||||Y13809|NM_003629.3|NP_003620.3|HGNC:8981|phosphoinositide-3-kinase_%20_regulatory_%20_subunit_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_regulatory_%20_subunit_%20_3_%20_(gamma)"|p55|"phosphoinositide-3-kinase_%20_regulatory_%20_subunit_%20_gamma"|1p34.1|2015-11-17||2015-11-17|BC021622||8503|ENSG00000117461|9524259|NM_003629|741|SH2_%20_domain_%20_containing|CCDS529_%2C__%20_CCDS76154_%2C__%20_CCDS76155|OTTHUMG00000008096|8503|606076|NM_001114172|Q92569|ENSG00000117461|uc001cpc.5|P55G_HUMAN|Isoprenaline(DB01064)|B2R9C1_%7C_D3DQ12_%7C_O60482_%7C_Q5T4P1_%7C_Q5T4P2|Q92569|insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol-3-phosphate_%20_biosynthetic_%20_process_%20_(GO:0036092)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_phosphatidylinositol_%20_3-kinase_%20_regulator_%20_activity_%20_(GO:0035014)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 46598273 rs1707303 A C . PASS FUNCOTATION=[PIK3R3|hg19|chr1|46598273|46598273|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:46598273A>C|ENST00000262741.5|-|1|||||0.6708229426433915|AACCAACCCGACCGCACCAAC|PIK3R3_ENST00000420542.1_INTRON/PIK3R3_ENST00000372006.1_INTRON/PIK3R3_ENST00000423209.1_FIVE_PRIME_UTR/PIK3R3_ENST00000354242.4_INTRON/PIK3R3_ENST00000340332.6_INTRON/PIK3R3_ENST00000540385.1_INTRON/RP4-533D7.5_ENST00000452785.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||1123|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(172)_%7C_lung(323)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_stomach(14)_%7C_upper_aerodigestive_tract(121)|||||||Y13809|NM_003629.3|NP_003620.3|HGNC:8981|phosphoinositide-3-kinase_%20_regulatory_%20_subunit_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_regulatory_%20_subunit_%20_3_%20_(gamma)"|p55|"phosphoinositide-3-kinase_%20_regulatory_%20_subunit_%20_gamma"|1p34.1|2015-11-17||2015-11-17|BC021622||8503|ENSG00000117461|9524259|NM_003629|741|SH2_%20_domain_%20_containing|CCDS529_%2C__%20_CCDS76154_%2C__%20_CCDS76155|OTTHUMG00000008096|8503|606076|NM_001114172|Q92569|ENSG00000117461|uc001cpc.5|P55G_HUMAN|Isoprenaline(DB01064)|B2R9C1_%7C_D3DQ12_%7C_O60482_%7C_Q5T4P1_%7C_Q5T4P2|Q92569|insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol-3-phosphate_%20_biosynthetic_%20_process_%20_(GO:0036092)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_phosphatidylinositol_%20_3-kinase_%20_regulator_%20_activity_%20_(GO:0035014)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 46646780 exm56088 A G . PASS FUNCOTATION=[TSPAN1|hg19|chr1|46646780|46646780|START_CODON_SNP||SNP|A|A|G|g.chr1:46646780A>G|ENST00000372003.1|+|3|465|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5187032418952618|AGGAGCCACCATGCAGTGCTT|PIK3R3_ENST00000540385.1_FIVE_PRIME_FLANK/TSPAN1_ENST00000498443.1_INTRON/RP11-322N21.2_ENST00000506599.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471059|NM_005727.3|NP_005718.2|HGNC:20657|tetraspanin_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||TSPAN-1_%2C__%20_NET-1||1p34.1|2016-10-05|||BC013404||10103|ENSG00000117472|9714763_%2C__%20_10719184|NM_005727|768|Tetraspanins|CCDS530|OTTHUMG00000007602|10103|613170|NM_005727|O60635|ENSG00000117472|uc001cpd.4|TSN1_HUMAN||D3DQ14_%7C_O60745_%7C_Q5VST0|O60635|cell_%20_migration_%20_(GO:0016477)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_positive_%20_regulation_%20_of_%20_endocytosis_%20_(GO:0045807)_%7C_protein_%20_stabilization_%20_(GO:0050821)_%7C_thiamine_%20_transmembrane_%20_transport_%20_(GO:0071934)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosome_%20_(GO:0005764)_%7C_membrane_%20_(GO:0016020)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|thiamine_%20_uptake_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015403)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 46826473 indel.3258 TG T . PASS FUNCOTATION=[NSUN4|hg19|chr1|46826474|46826474|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:46826474delG|ENST00000474844.1|+|5|1501|c.852delG|c.(850-852)ttgfs|p.L284fs|0.4688279301745636|GACAGATATTGCCTGTGCTGC|NSUN4_ENST00000537428.1_FRAME_SHIFT_DEL_p.L235fs/NSUN4_ENST00000536062.1_FRAME_SHIFT_DEL_p.L235fs/NSUN4_ENST00000498008.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_199044.3|NP_950245.2|HGNC:31802|NOP2/Sun_%20_RNA_%20_methyltransferase_%20_family_%20_member_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"NOL1/NOP2/Sun_%20_domain_%20_family_%2C__%20_member_%20_4"_%2C__%20_"NOP2/Sun_%20_domain_%20_family_%2C__%20_member_%20_4"|MGC22960_%2C__%20_SHTAP|"sperm_%20_head_%20_and_%20_tail_%20_associated_%20_protein"|1p33|2016-10-05||2015-11-17|AK021577||387338|ENSG00000117481||NM_199044|664|NOP2/Sun_%20_RNA_%20_methyltransferase_%20_family|CCDS534_%2C__%20_CCDS57996|OTTHUMG00000007808|387338|615394|NM_001256127|Q96CB9|ENSG00000117481|uc001cpr.3|NSUN4_HUMAN||A8K6S6_%7C_B3KQ50_%7C_B4DHA4_%7C_Q5TDF7_%7C_Q96AN8_%7C_Q9HAJ8|Q96CB9|rRNA_%20_methylation_%20_(GO:0031167)|mitochondrial_%20_large_%20_ribosomal_%20_subunit_%20_(GO:0005762)|methyltransferase_%20_activity_%20_(GO:0008168)_%7C_rRNA_%20_binding_%20_(GO:0019843)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 46905802 rs11211276 G T . PASS FUNCOTATION=[RP5-1109J22.1|hg19|chr1|46905802|46905802|RNA||SNP|G|G|T|g.chr1:46905802G>T|ENST00000429784.2|+|||c.e3-536G>T|||0.5187032418952618|CTGAAGTTGAGATTAGGTTTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 47005597 psy_rs75939162 C T . PASS FUNCOTATION=[MKNK1-AS1|hg19|chr1|47005597|47005597|RNA||SNP|C|C|T|g.chr1:47005597C>T|ENST00000602433.1|+|||c.e2-1005C>T|||0.5586034912718204|CCTCTTGGCTCCAGATTCCTG|||||||||||||||||||||||||||||||||||||HGNC:44129|MKNK1_%20_antisense_%20_RNA_%20_1|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA||"MKNK1_%20_antisense_%20_RNA_%20_1_%20_(non-protein_%20_coding)"|||1p33|2012-10-12||2012-08-15|AK097731||100507423|||NR_038403|||||100507423||NR_038403||ENSG00000269956|uc021onb.1|||||||||||true|false|0.9918_%2C_0.008187|false|false|1||false|false|false|MKNK1-AS1:100507423|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|75939162|47005597|false|false|0|true|0|false|0.984271_%2C_0.0157291|false|false|false|SNV|true|0x050100080005040436000100|1|false|132|rs75939162|] -chr1 47006657 rs2486164 C T . PASS FUNCOTATION=[MKNK1-AS1|hg19|chr1|47006657|47006657|RNA||SNP|C|C|T|g.chr1:47006657C>T|ENST00000602433.1|+|||c.e2-24C>T|||0.543640897755611|CACAAGACTCCGAAGGCTTCT|||||||||||||||||||||||||||||||||||||HGNC:44129|MKNK1_%20_antisense_%20_RNA_%20_1|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA||"MKNK1_%20_antisense_%20_RNA_%20_1_%20_(non-protein_%20_coding)"|||1p33|2012-10-12||2012-08-15|AK097731||100507423|||NR_038403|||||100507423||NR_038403||ENSG00000269956|uc021onb.1|||||||||||true|false|0.9193_%2C_0.08067|false|false|1||false|true|false|MKNK1-AS1:100507423|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2486164|47006657|false|false|0|true|0|false|0.908716_%2C_0.0912837|false|false|false|SNV|true|0x05010000000515053f000100|1|false|100|rs2486164|] -chr1 47011762 rs885125 A G . PASS FUNCOTATION=[MKNK1-AS1|hg19|chr1|47011762|47011762|RNA||SNP|A|A|G|g.chr1:47011762A>G|ENST00000602433.1|+|||c.e3+2322A>G|||0.5211970074812967|GGTCTGTCGCACTGTTGTCAG|||||||||||||||||||||||||||||||||||||HGNC:44129|MKNK1_%20_antisense_%20_RNA_%20_1|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA||"MKNK1_%20_antisense_%20_RNA_%20_1_%20_(non-protein_%20_coding)"|||1p33|2012-10-12||2012-08-15|AK097731||100507423|||NR_038403|||||100507423||NR_038403||ENSG00000269956|uc021onb.1|||||||||||true|false|0.4273_%2C_0.5727|false|false|1||false|true|true|MKNK1-AS1:100507423_%7C_KNCN:148930|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|885125|47011762|false|false|0|true|0|false|0.473659_%2C_0.526341|false|true|false|SNV|true|0x05010088000517053f000100|1|false|86|rs885125|] -chr1 47013404 exm56794 A G . PASS FUNCOTATION=[KNCN|hg19|chr1|47013404|47013404|NONSTOP||SNP|A|A|G|g.chr1:47013404A>G|ENST00000396314.3|-|3|304|c.304T>C|c.(304-306)Tga>Cga|p.*102R|0.6508728179551122|ACTTTGCCTCAGCATTCCTCA|KNCN_ENST00000481882.2_NONSTOP_p.*125R/MKNK1-AS1_ENST00000602433.1_RNA/KNCN_ENST00000524908.1_INTRON|||||||||||||||||||||||||||||||||DA208279|NM_001097611.1|NP_001091080.1|HGNC:26488|kinocilin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32011_%2C__%20_KINO_%2C__%20_L5||1p33|2014-02-12||2006-10-26|AK056573||148930|ENSG00000162456|15855039|NM_182516|||CCDS44133_%2C__%20_CCDS81316|OTTHUMG00000007987|148930|611455|NM_001097611|A6PVL3|ENSG00000162456|uc009vyh.2|KNCN_HUMAN||A8MXE3|A6PVL3||apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_ciliary_%20_basal_%20_body_%20_(GO:0036064)_%7C_cuticular_%20_plate_%20_(GO:0032437)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_kinocilium_%20_(GO:0060091)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)|||||true|false|0.9964_%2C_0.003594|false|false|1||false|false|false|MKNK1-AS1:100507423_%7C_KNCN:148930|false|true|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|140455646|47013404|false|false|0|false|0|false|0.993337_%2C_0.00666255|false|false|false|SNV|true|0x050000080205040426000100|1|false|134|rs140455646|] -chr1 47075329 exm56885 A G . PASS FUNCOTATION=[MOB3C|hg19|chr1|47075329|47075329|NONSTOP||SNP|A|A|G|g.chr1:47075329A>G|ENST00000371940.1|-|3|3793|c.718T>C|c.(718-720)Tga>Cga|p.*240R|0.543640897755611|ACCTGGGCTCAGTGGCAGATC|MOB3C_ENST00000271139.8_NONSTOP_p.*269R/MOB3C_ENST00000319928.3_NONSTOP_p.*217R/MKNK1_ENST00000545730.1_INTRON|||||||||||||||||||||||||||||||||CH471059|||HGNC:29800|MOB_%20_kinase_%20_activator_%20_3C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MOBKL2C|"MOB1_%2C__%20_Mps_%20_One_%20_Binder_%20_kinase_%20_activator-like_%20_2C_%20_(yeast)"|MOB1E||1p33|2016-10-05|2011-09-28|2011-09-28|AK091808||148932|ENSG00000142961|12477932|NM_145279|647|MOB_%20_kinase_%20_activators|CCDS539_%2C__%20_CCDS540|OTTHUMG00000007989|148932||NM_145279|Q70IA8|ENSG00000142961|uc001cqf.4|MOB3C_HUMAN||D3DQ22_%7C_Q0VA98_%7C_Q5TC10_%7C_Q5TC11_%7C_Q8NAZ2_%7C_Q8NF28|Q70IA8|||metal_%20_ion_%20_binding_%20_(GO:0046872)||||true|false||false|false|||false|false|false|MOB3C:148932|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|149444077|47075329|false|false|0|true|0|false|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050100000205040402000100|1|false|134|rs149444077|] -chr1 47264724 rs2297813 G T . PASS FUNCOTATION=[CYP4B1|hg19|chr1|47264724|47264724|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:47264724G>T|ENST00000371923.4|+|1|||||0.5610972568578554|AGGCAGGTCAGATGAAGGCTA|CYP4B1_ENST00000271153.4_FIVE_PRIME_UTR/CYP4B1_ENST00000371919.4_FIVE_PRIME_FLANK/CYP4B1_ENST00000546128.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X16699|NM_001099772.1|NP_001093242.1|HGNC:2644|cytochrome_%20_P450_%20_family_%20_4_%20_subfamily_%20_B_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"cytochrome_%20_P450_%2C__%20_subfamily_%20_IVB_%2C__%20_polypeptide_%20_1"_%2C__%20_"cytochrome_%20_P450_%2C__%20_family_%20_4_%2C__%20_subfamily_%20_B_%2C__%20_polypeptide_%20_1"|||1p33|2015-12-09||2015-12-09|BC017758||1580|ENSG00000142973||NM_000779|1003|Cytochrome_%20_P450_%20_family_%20_4|CCDS542_%2C__%20_CCDS41328_%2C__%20_CCDS81318|OTTHUMG00000007984|1580|124075|NM_000779|P13584|ENSG00000142973|uc001cqm.5|CP4B1_HUMAN|Midazolam(DB00683)_%7C_Phenobarbital(DB01174)_%7C_Thiamine(DB00152)|Q1HBI2_%7C_Q8TD85_%7C_Q8WWF2_%7C_Q8WWU9_%7C_Q8WWV0|P13584|biphenyl_%20_metabolic_%20_process_%20_(GO:0018879)_%7C_exogenous_%20_drug_%20_catabolic_%20_process_%20_(GO:0042738)_%7C_fluorene_%20_metabolic_%20_process_%20_(GO:0018917)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)|aromatase_%20_activity_%20_(GO:0070330)_%7C_drug_%20_binding_%20_(GO:0008144)_%7C_fluorene_%20_oxygenase_%20_activity_%20_(GO:0018585)_%7C_heme_%20_binding_%20_(GO:0020037)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)_%7C_oxygen_%20_binding_%20_(GO:0019825)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 47309265 exm2264832 A G . PASS FUNCOTATION=[CYP4Z2P|hg19|chr1|47309265|47309265|RNA||SNP|A|A|G|g.chr1:47309265A>G|ENST00000505841.1|-|||c.e12+415T>C|||0.4488778054862843|CTTTTGTAGGAAAACAAGATC|||||||||||||||||||||||||||||||||||||HGNC:24426|cytochrome_%20_P450_%20_family_%20_4_%20_subfamily_%20_Z_%20_member_%20_2_%2C__%20_pseudogene|Approved|pseudogene|pseudogene||"cytochrome_%20_P450_%2C__%20_family_%20_4_%2C__%20_subfamily_%20_Z_%2C__%20_polypeptide_%20_2_%2C__%20_pseudogene"|FLJ40054||1p33|2015-12-09||2015-12-09|AY262057||163720|ENSG00000154198|15059886|NR_002788|1003|Cytochrome_%20_P450_%20_family_%20_4||OTTHUMG00000008024|163720||NR_002788|Q8N1L4|ENSG00000154198||CP4Z2_HUMAN||Q66ZJ5|Q8N1L4||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|heme_%20_binding_%20_(GO:0020037)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)_%7C_oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_paired_%20_donors_%2C__%20_with_%20_incorporation_%20_or_%20_reduction_%20_of_%20_molecular_%20_oxygen_%20_(GO:0016705)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 47309265 rs10749865 A G . PASS FUNCOTATION=[CYP4Z2P|hg19|chr1|47309265|47309265|RNA||SNP|A|A|G|g.chr1:47309265A>G|ENST00000505841.1|-|||c.e12+415T>C|||0.4488778054862843|CTTTTGTAGGAAAACAAGATC|||||||||||||||||||||||||||||||||||||HGNC:24426|cytochrome_%20_P450_%20_family_%20_4_%20_subfamily_%20_Z_%20_member_%20_2_%2C__%20_pseudogene|Approved|pseudogene|pseudogene||"cytochrome_%20_P450_%2C__%20_family_%20_4_%2C__%20_subfamily_%20_Z_%2C__%20_polypeptide_%20_2_%2C__%20_pseudogene"|FLJ40054||1p33|2015-12-09||2015-12-09|AY262057||163720|ENSG00000154198|15059886|NR_002788|1003|Cytochrome_%20_P450_%20_family_%20_4||OTTHUMG00000008024|163720||NR_002788|Q8N1L4|ENSG00000154198||CP4Z2_HUMAN||Q66ZJ5|Q8N1L4||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|heme_%20_binding_%20_(GO:0020037)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)_%7C_oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_paired_%20_donors_%2C__%20_with_%20_incorporation_%20_or_%20_reduction_%20_of_%20_molecular_%20_oxygen_%20_(GO:0016705)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 47326226 rs6679068 T C . PASS FUNCOTATION=[CYP4Z2P|hg19|chr1|47326226|47326226|RNA||SNP|T|T|C|g.chr1:47326226T>C|ENST00000505841.1|-|||c.e9+767A>G|||0.38902743142144636|CAATGCTAGATATTGGTTCAT|||||||||||||||||||||||||||||||||||||HGNC:24426|cytochrome_%20_P450_%20_family_%20_4_%20_subfamily_%20_Z_%20_member_%20_2_%2C__%20_pseudogene|Approved|pseudogene|pseudogene||"cytochrome_%20_P450_%2C__%20_family_%20_4_%2C__%20_subfamily_%20_Z_%2C__%20_polypeptide_%20_2_%2C__%20_pseudogene"|FLJ40054||1p33|2015-12-09||2015-12-09|AY262057||163720|ENSG00000154198|15059886|NR_002788|1003|Cytochrome_%20_P450_%20_family_%20_4||OTTHUMG00000008024|163720||NR_002788|Q8N1L4|ENSG00000154198||CP4Z2_HUMAN||Q66ZJ5|Q8N1L4||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|heme_%20_binding_%20_(GO:0020037)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)_%7C_oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_paired_%20_donors_%2C__%20_with_%20_incorporation_%20_or_%20_reduction_%20_of_%20_molecular_%20_oxygen_%20_(GO:0016705)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 47400133 indel.3307 AG A . PASS FUNCOTATION=[CYP4A11|hg19|chr1|47400134|47400134|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:47400134delG|ENST00000310638.4|-|7|921|c.888delC|c.(886-888)ctcfs|p.L297fs|0.543640897755611|CTTTGGCCAAGAGGAGGATAT|CYP4A11_ENST00000462347.1_FRAME_SHIFT_DEL_p.G246fs/CYP4A11_ENST00000371905.1_FRAME_SHIFT_DEL_p.L297fs/CYP4A11_ENST00000371904.4_FRAME_SHIFT_DEL_p.L298fs/CYP4A11_ENST00000457840.2_FRAME_SHIFT_DEL_p.G142fs/CYP4A11_ENST00000496519.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||194|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(104)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X71480|NM_000778.3|NP_000769.2|HGNC:2642|cytochrome_%20_P450_%20_family_%20_4_%20_subfamily_%20_A_%20_member_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CYP4A2|"cytochrome_%20_P450_%2C__%20_subfamily_%20_IVA_%2C__%20_polypeptide_%20_11"_%2C__%20_"cytochrome_%20_P450_%2C__%20_family_%20_4_%2C__%20_subfamily_%20_A_%2C__%20_polypeptide_%20_11"|CYP4AII||1p33|2015-12-09||2015-12-09|L04751||1579|ENSG00000187048|7679927|NM_000778|1003|Cytochrome_%20_P450_%20_family_%20_4|CCDS543|OTTHUMG00000008020|1579|601310|NM_000778|Q02928|ENSG00000187048|uc001cqp.5|CP4AB_HUMAN|Cisplatin(DB00515)_%7C_Clofibrate(DB00636)_%7C_Dexamethasone(DB01234)_%7C_Estrone(DB00655)_%7C_Ethanol(DB00898)_%7C_Lansoprazole(DB00448)_%7C_Pegvisomant(DB00082)_%7C_Pentamidine(DB00738)_%7C_Phenobarbital(DB01174)_%7C_Rifampicin(DB01045)_%7C_Tretinoin(DB00755)|Q06766_%7C_Q16865_%7C_Q16866_%7C_Q5VSP8_%7C_Q86SU6_%7C_Q8IWY5|Q02928|arachidonic_%20_acid_%20_metabolic_%20_process_%20_(GO:0019369)_%7C_cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_epoxygenase_%20_P450_%20_pathway_%20_(GO:0019373)_%7C_fatty_%20_acid_%20_metabolic_%20_process_%20_(GO:0006631)_%7C_leukotriene_%20_B4_%20_catabolic_%20_process_%20_(GO:0036101)_%7C_leukotriene_%20_metabolic_%20_process_%20_(GO:0006691)_%7C_long-chain_%20_fatty_%20_acid_%20_metabolic_%20_process_%20_(GO:0001676)_%7C_omega-hydroxylase_%20_P450_%20_pathway_%20_(GO:0097267)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_positive_%20_regulation_%20_of_%20_icosanoid_%20_secretion_%20_(GO:0032305)_%7C_pressure_%20_natriuresis_%20_(GO:0003095)_%7C_renal_%20_water_%20_homeostasis_%20_(GO:0003091)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_sodium_%20_ion_%20_homeostasis_%20_(GO:0055078)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_cytoplasm_%20_(GO:0005737)_%7C_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)|alkane_%20_1-monooxygenase_%20_activity_%20_(GO:0018685)_%7C_arachidonic_%20_acid_%20_epoxygenase_%20_activity_%20_(GO:0008392)_%7C_arachidonic_%20_acid_%20_omega-hydroxylase_%20_activity_%20_(GO:0052869)_%7C_heme_%20_binding_%20_(GO:0020037)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)_%7C_leukotriene-B4_%20_20-monooxygenase_%20_activity_%20_(GO:0050051)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 47400148 indel.3308 GA G . PASS FUNCOTATION=[CYP4A11|hg19|chr1|47400149|47400149|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:47400149delA|ENST00000310638.4|-|7|906|c.873delT|c.(871-873)tttfs|p.L292fs|0.5386533665835411|GGATATCCAGAAAATCCAAAT|CYP4A11_ENST00000462347.1_FRAME_SHIFT_DEL_p.S240fs/CYP4A11_ENST00000371905.1_FRAME_SHIFT_DEL_p.L292fs/CYP4A11_ENST00000371904.4_FRAME_SHIFT_DEL_p.L293fs/CYP4A11_ENST00000457840.2_FRAME_SHIFT_DEL_p.S136fs/CYP4A11_ENST00000496519.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||194|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(104)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X71480|NM_000778.3|NP_000769.2|HGNC:2642|cytochrome_%20_P450_%20_family_%20_4_%20_subfamily_%20_A_%20_member_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CYP4A2|"cytochrome_%20_P450_%2C__%20_subfamily_%20_IVA_%2C__%20_polypeptide_%20_11"_%2C__%20_"cytochrome_%20_P450_%2C__%20_family_%20_4_%2C__%20_subfamily_%20_A_%2C__%20_polypeptide_%20_11"|CYP4AII||1p33|2015-12-09||2015-12-09|L04751||1579|ENSG00000187048|7679927|NM_000778|1003|Cytochrome_%20_P450_%20_family_%20_4|CCDS543|OTTHUMG00000008020|1579|601310|NM_000778|Q02928|ENSG00000187048|uc001cqp.5|CP4AB_HUMAN|Cisplatin(DB00515)_%7C_Clofibrate(DB00636)_%7C_Dexamethasone(DB01234)_%7C_Estrone(DB00655)_%7C_Ethanol(DB00898)_%7C_Lansoprazole(DB00448)_%7C_Pegvisomant(DB00082)_%7C_Pentamidine(DB00738)_%7C_Phenobarbital(DB01174)_%7C_Rifampicin(DB01045)_%7C_Tretinoin(DB00755)|Q06766_%7C_Q16865_%7C_Q16866_%7C_Q5VSP8_%7C_Q86SU6_%7C_Q8IWY5|Q02928|arachidonic_%20_acid_%20_metabolic_%20_process_%20_(GO:0019369)_%7C_cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_epoxygenase_%20_P450_%20_pathway_%20_(GO:0019373)_%7C_fatty_%20_acid_%20_metabolic_%20_process_%20_(GO:0006631)_%7C_leukotriene_%20_B4_%20_catabolic_%20_process_%20_(GO:0036101)_%7C_leukotriene_%20_metabolic_%20_process_%20_(GO:0006691)_%7C_long-chain_%20_fatty_%20_acid_%20_metabolic_%20_process_%20_(GO:0001676)_%7C_omega-hydroxylase_%20_P450_%20_pathway_%20_(GO:0097267)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_positive_%20_regulation_%20_of_%20_icosanoid_%20_secretion_%20_(GO:0032305)_%7C_pressure_%20_natriuresis_%20_(GO:0003095)_%7C_renal_%20_water_%20_homeostasis_%20_(GO:0003091)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_sodium_%20_ion_%20_homeostasis_%20_(GO:0055078)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_cytoplasm_%20_(GO:0005737)_%7C_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)|alkane_%20_1-monooxygenase_%20_activity_%20_(GO:0018685)_%7C_arachidonic_%20_acid_%20_epoxygenase_%20_activity_%20_(GO:0008392)_%7C_arachidonic_%20_acid_%20_omega-hydroxylase_%20_activity_%20_(GO:0052869)_%7C_heme_%20_binding_%20_(GO:0020037)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)_%7C_leukotriene-B4_%20_20-monooxygenase_%20_activity_%20_(GO:0050051)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 47514283 indel.3316 TG T . PASS FUNCOTATION=[CYP4X1|hg19|chr1|47514284|47514284|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:47514284delG|ENST00000371901.3|+|10|1504|c.1255delG|c.(1255-1257)gtcfs|p.V419fs|0.4014962593516209|CAACCCTGCTGTCTGGAAAAA|CYP4X1_ENST00000538609.1_FRAME_SHIFT_DEL_p.V418fs|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471059|NM_178033.1|NP_828847.1|HGNC:20244|cytochrome_%20_P450_%20_family_%20_4_%20_subfamily_%20_X_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"cytochrome_%20_P450_%2C__%20_family_%20_4_%2C__%20_subfamily_%20_X_%2C__%20_polypeptide_%20_1"|MGC40051||1p33|2015-12-09||2015-12-09|AK091806||260293|ENSG00000186377|12176035|NM_178033|1003|Cytochrome_%20_P450_%20_family_%20_4|CCDS544|OTTHUMG00000008017|260293|614999|NM_001320289|Q8N118|ENSG00000186377|uc001cqt.3|CP4X1_HUMAN||G3V1U1_%7C_Q5VVE5_%7C_Q6ZN67_%7C_Q8NAZ3|Q8N118||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|aromatase_%20_activity_%20_(GO:0070330)_%7C_heme_%20_binding_%20_(GO:0020037)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 47610057 indel.3329 AC A . PASS FUNCOTATION=[CYP4A22|hg19|chr1|47610058|47610058|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:47610058delC|ENST00000371891.3|+|7|850|c.820delC|c.(820-822)ctafs|p.L274fs|0.5511221945137157|GAAGGCTCAACTACAGAAGGA|CYP4A22_ENST00000371890.3_FRAME_SHIFT_DEL_p.T222fs/CYP4A22_ENST00000294337.3_FRAME_SHIFT_DEL_p.L274fs/CYP4A22-AS1_ENST00000444042.2_LINCRNA/CYP4A22_ENST00000485117.1_INTRON|Pancreas(88_%3B_1240_%20_1470_%20_2099_%20_14214_%20_37557)||||||||||||||||||||||||136|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(44)_%7C_large_intestine(35)_%7C_lung(1)_%7C_pancreas(22)|||||||BC148248|NM_001010969.2|NP_001010969.2|HGNC:20575|cytochrome_%20_P450_%20_family_%20_4_%20_subfamily_%20_A_%20_member_%20_22|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"cytochrome_%20_P450_%2C__%20_family_%20_4_%2C__%20_subfamily_%20_A_%2C__%20_polypeptide_%20_22"|||1p33|2015-12-09||2015-12-09|||284541|ENSG00000162365||XM_208213|1003|Cytochrome_%20_P450_%20_family_%20_4|CCDS30707_%2C__%20_CCDS76160|OTTHUMG00000007845|284541|615341|NM_001010969|Q5TCH4|ENSG00000162365|uc001cqv.2|CP4AM_HUMAN||Q5TCH3_%7C_Q6JXK7_%7C_Q6JXK8_%7C_Q9NRM4|Q5TCH4||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_membrane_%20_(GO:0016020)|alkane_%20_1-monooxygenase_%20_activity_%20_(GO:0018685)_%7C_arachidonic_%20_acid_%20_omega-hydroxylase_%20_activity_%20_(GO:0052869)_%7C_heme_%20_binding_%20_(GO:0020037)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 47854514 rs17103186 C T . PASS FUNCOTATION=[RP11-511I2.2|hg19|chr1|47854514|47854514|RNA||SNP|C|C|T|g.chr1:47854514C>T|ENST00000420876.1|-|||c.e2+2486G>A|||0.49875311720698257|AGAGATAGTCCGGGGTAGGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 47867150 rs6679121 G A . PASS FUNCOTATION=[RP11-511I2.2|hg19|chr1|47867150|47867150|RNA||SNP|G|G|A|g.chr1:47867150G>A|ENST00000420876.1|-|||c.e1-6842C>T|||0.41895261845386533|AACTCCAGAGGGCAGGGATTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 47868005 rs11579058 C T . PASS FUNCOTATION=[RP11-511I2.2|hg19|chr1|47868005|47868005|RNA||SNP|C|C|T|g.chr1:47868005C>T|ENST00000420876.1|-|||c.e1-5987G>A|||0.49625935162094764|TGCCCCAGGACGCTTGGCTTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 47870271 rs7528075 G A . PASS FUNCOTATION=[RP11-511I2.2|hg19|chr1|47870271|47870271|RNA||SNP|G|G|A|g.chr1:47870271G>A|ENST00000420876.1|-|||c.e1-3721C>T|||0.4538653366583541|TTCAAACACTGGGTTTCACAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 48630438 rs10788882 G C . PASS FUNCOTATION=[SKINTL|hg19|chr1|48630438|48630438|RNA||SNP|G|G|C|g.chr1:48630438G>C|ENST00000453388.1|-|||c.e5+56C>G|||0.4114713216957606|TCCTGGGAATGGGATTTTGAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||SKIT1_HUMAN|||A8MVG2||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.3618_%2C_0.6382|false|false|1||false|true|true|SKINT1L:391037|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|10788882|48630438|false|false|0|true|0|false|0.31496_%2C_0.68504|false|false|false|SNV|true|0x05012800000517053f000100|1|false|120|rs10788882|] -chr1 50673575 psy_rs1467725 G A . PASS FUNCOTATION=[RP11-567C20.3|hg19|chr1|50673575|50673575|RNA||SNP|G|G|A|g.chr1:50673575G>A|ENST00000440897.1|-|||c.e2+1595C>T|||0.42643391521197005|CAAAAAAGCAGGAAAGGAAAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 50679059 rs2480687 G A . PASS FUNCOTATION=[RP11-567C20.3|hg19|chr1|50679059|50679059|RNA||SNP|G|G|A|g.chr1:50679059G>A|ENST00000440897.1|-|||c.e2+7079C>T|||0.4389027431421446|CCTCAATGGTGTCCCTAGGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 51770773 indel.3397 CA C . PASS FUNCOTATION=[TTC39A|hg19|chr1|51770774|51770774|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:51770774delA|ENST00000262676.5|-|8|891|c.729delT|c.(727-729)tttfs|p.F243fs|0.57356608478803|AAAACCCCACAAACTCCAACA|TTC39A_ENST00000447632.2_FRAME_SHIFT_DEL_p.F247fs/TTC39A_ENST00000413473.2_FRAME_SHIFT_DEL_p.F215fs/TTC39A_ENST00000262675.7_FRAME_SHIFT_DEL_p.F184fs/TTC39A_ENST00000371750.5_FRAME_SHIFT_DEL_p.F212fs/TTC39A_ENST00000371747.3_FRAME_SHIFT_DEL_p.F246fs/TTC39A_ENST00000451380.1_FRAME_SHIFT_DEL_p.F211fs|||||||||||||||||||||||||22|central_nervous_system(22)|||||||CX788693|||HGNC:18657|tetratricopeptide_%20_repeat_%20_domain_%20_39A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf34|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_34"|KIAA0452_%2C__%20_DEME-6||1p32.3|2015-08-26|2008-06-23|2008-06-23|AB007921||22996|ENSG00000085831|9455484_%2C__%20_9461476||769|Tetratricopeptide_%20_repeat_%20_domain_%20_containing|CCDS44143_%2C__%20_CCDS44144_%2C__%20_CCDS72789_%2C__%20_CCDS72790_%2C__%20_CCDS76162_%2C__%20_CCDS76163|OTTHUMG00000008193|22996||NM_001080494|Q5SRH9|ENSG00000085831|uc001csl.4|TT39A_HUMAN||B7Z782_%7C_E7EQY9_%7C_G3XAF8_%7C_O43417_%7C_O75040_%7C_Q5SRH5_%7C_Q5SRH6_%7C_Q5SRH7_%7C_Q5SRH8_%7C_Q5SRI0_%7C_Q5SRI1_%7C_Q5SRI2_%7C_Q5T7S1_%7C_Q6PIU8_%7C_Q9BT24|Q5SRH9|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 52521798 rs2809954 G T . PASS FUNCOTATION=[TXNDC12|hg19|chr1|52521798|52521798|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:52521798G>T|ENST00000371626.4|-|1|||||0.5586034912718204|GAGACTGCAAGCCCCAGGATG|BTF3L4_ENST00000313334.8_FIVE_PRIME_UTR/BTF3L4_ENST00000472944.2_FIVE_PRIME_FLANK/BTF3L4_ENST00000484036.1_FIVE_PRIME_FLANK/BTF3L4_ENST00000489308.2_FIVE_PRIME_FLANK/TXNDC12_ENST00000610127.1_FIVE_PRIME_FLANK/BTF3L4_ENST00000533836.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC008953|NM_015913.3|NP_056997.1|HGNC:24626|thioredoxin_%20_domain_%20_containing_%20_12|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"thioredoxin_%20_domain_%20_containing_%20_12_%20_(endoplasmic_%20_reticulum)"|TLP19_%2C__%20_ERP18_%2C__%20_ERP19_%2C__%20_hAG-1_%2C__%20_AGR1_%2C__%20_PDIA16|"endoplasmic_%20_reticulum_%20_thioredoxin_%20_superfamily_%20_member_%2C__%20_18_%20_kDa"_%2C__%20_"anterior_%20_gradient_%20_homolog_%20_1_%20_(Xenopus_%20_laevis)"_%2C__%20_"protein_%20_disulfide_%20_isomerase_%20_family_%20_A_%2C__%20_member_%20_16"|1p32.3|2016-03-31||2016-03-31|AF131758||51060|ENSG00000117862|8619474_%2C__%20_9110174|NM_015913|692|Protein_%20_disulfide_%20_isomerases|CCDS561|OTTHUMG00000008629|51060|609448|NM_015913|O95881|ENSG00000117862|uc001cti.5|TXD12_HUMAN|Glutathione(DB00143)|B3KQS0_%7C_Q5T1T4_%7C_Q96H50|O95881|cell_%20_redox_%20_homeostasis_%20_(GO:0045454)|endoplasmic_%20_reticulum_%20_(GO:0005783)|protein-disulfide_%20_reductase_%20_(glutathione)_%20_activity_%20_(GO:0019153)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 52859335 indel.3466 GA G . PASS FUNCOTATION=[ORC1|hg19|chr1|52859336|52859336|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:52859336delA|ENST00000371568.3|-|6|1081|c.861delT|c.(859-861)tctfs|p.P288fs|0.4463840399002494|TCAGAGCTGGAGACAAGGTTT|ORC1_ENST00000371566.1_FRAME_SHIFT_DEL_p.P288fs|||||||||||||||||||||||||161|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U43416|NM_004153.3|NP_004144.2|HGNC:8487|origin_%20_recognition_%20_complex_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ORC1L|"origin_%20_recognition_%20_complex_%2C__%20_subunit_%20_1_%20_(yeast_%20_homolog)-like"_%2C__%20_"origin_%20_recognition_%20_complex_%2C__%20_subunit_%20_1-like_%20_(yeast)"_%2C__%20_"origin_%20_recognition_%20_complex_%2C__%20_subunit_%20_1_%20_homolog_%20_(S._%20_cerevisiae)"_%2C__%20_"origin_%20_recognition_%20_complex_%2C__%20_subunit_%20_1"|HSORC1_%2C__%20_PARC1|"origin_%20_recognition_%20_complex_%2C__%20_subunit_%20_1_%2C__%20_S._%20_cerevisiae_%2C__%20_homolog-like"_%2C__%20_"origin_%20_recognition_%20_complex_%20_1"_%2C__%20_"replication_%20_control_%20_protein_%20_1"|1p32.3|2016-10-05|2010-10-12|2015-11-12|||4998|ENSG00000085840|8884289|NM_004153|413_%7C_960|AAA_%20_ATPases_%7C_Origin_%20_recognition_%20_complex_%20_|CCDS566|OTTHUMG00000008104|4998|601902|NM_001190818|Q13415|ENSG00000085840|uc001ctt.4|ORC1_HUMAN||D3DQ34_%7C_Q13471_%7C_Q5T0F5|Q13415|DNA_%20_replication_%20_(GO:0006260)_%7C_DNA_%20_replication_%20_initiation_%20_(GO:0006270)_%7C_G1/S_%20_transition_%20_of_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0000082)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_regulation_%20_of_%20_transcription_%20_involved_%20_in_%20_G1/S_%20_transition_%20_of_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0000083)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_nuclear_%20_origin_%20_of_%20_replication_%20_recognition_%20_complex_%20_(GO:0005664)_%7C_nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_origin_%20_recognition_%20_complex_%20_(GO:0000808)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ATP_%20_binding_%20_(GO:0005524)_%7C_chromatin_%20_binding_%20_(GO:0003682)_%7C_DNA_%20_binding_%20_(GO:0003677)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 53158510 indel.3481 CTTCCAAATAGTCCA C . PASS FUNCOTATION=[SELRC1|hg19|chr1|53158511|53158524|FRAME_SHIFT_DEL||DEL|TTCCAAATAGTCCA|TTCCAAATAGTCCA|-|g.chr1:53158511_53158524delTTCCAAATAGTCCA|ENST00000371538.3|-|2|176_189|c.122_135delTGGACTATTTGGAA|c.(121-138)gtggactatttggaagggfs|p.V41fs|0.5289855072463768|TCCGGATCCCTTCCAAATAGTCCACCAGCCGATA|SELRC1_ENST00000486918.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC015313|NM_023077.2|NP_075565.2||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 53163901 indel.3482 TC T . PASS FUNCOTATION=[SELRC1|hg19|chr1|53163902|53163902|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:53163902delC|ENST00000371538.3|-|1|138|c.97delG|c.(97-99)gacfs|p.D33fs|0.6982543640897756|CCGTCCGGGTCCTTCTCGTGG|SELRC1_ENST00000486918.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC015313|NM_023077.2|NP_075565.2||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 53741391 exm60486 A G . PASS FUNCOTATION=[LRP8|hg19|chr1|53741391|53741391|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:53741391A>G|ENST00000465675.1|-|5|||||0.57356608478803|TCCCATCCCCACACTGGAACT|LRP8_ENST00000347547.2_INTRON/LRP8_ENST00000306052.6_SILENT_p.C306C/LRP8_ENST00000371454.2_SILENT_p.C306C/LRP8_ENST00000354412.3_SILENT_p.C177C|||||||||||||||||||||||||160|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||AL606760|||HGNC:6700|LDL_%20_receptor_%20_related_%20_protein_%20_8|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"low_%20_density_%20_lipoprotein_%20_receptor-related_%20_protein_%20_8_%2C__%20_apolipoprotein_%20_e_%20_receptor"|APOER2_%2C__%20_MCI1_%2C__%20_LRP-8_%2C__%20_HSZ75190||1p32.3|2015-11-13||2015-11-13|D50678||7804|ENSG00000157193|8626535_%2C__%20_9079678|NM_004631|634|Low_%20_density_%20_lipoprotein_%20_receptors|CCDS578_%2C__%20_CCDS579_%2C__%20_CCDS580_%2C__%20_CCDS30720|OTTHUMG00000008924|7804|602600|NM_001018054|Q14114|ENSG00000157193|uc001cvi.4|LRP8_HUMAN||B1AMT6_%7C_B1AMT7_%7C_B1AMT8_%7C_O14968_%7C_Q86V27_%7C_Q99876_%7C_Q9BR78|Q14114|ammon_%20_gyrus_%20_development_%20_(GO:0021541)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cellular_%20_response_%20_to_%20_cholesterol_%20_(GO:0071397)_%7C_cellular_%20_response_%20_to_%20_growth_%20_factor_%20_stimulus_%20_(GO:0071363)_%7C_cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_endocytosis_%20_(GO:0006897)_%7C_layer_%20_formation_%20_in_%20_cerebral_%20_cortex_%20_(GO:0021819)_%7C_lipid_%20_metabolic_%20_process_%20_(GO:0006629)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_positive_%20_regulation_%20_of_%20_CREB_%20_transcription_%20_factor_%20_activity_%20_(GO:0032793)_%7C_positive_%20_regulation_%20_of_%20_dendrite_%20_development_%20_(GO:1900006)_%7C_positive_%20_regulation_%20_of_%20_dendritic_%20_spine_%20_morphogenesis_%20_(GO:0061003)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050731)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_tyrosine_%20_kinase_%20_activity_%20_(GO:0061098)_%7C_proteolysis_%20_(GO:0006508)_%7C_receptor-mediated_%20_endocytosis_%20_(GO:0006898)_%7C_reelin-mediated_%20_signaling_%20_pathway_%20_(GO:0038026)_%7C_regulation_%20_of_%20_synaptic_%20_transmission_%20_(GO:0050804)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_signal_%20_transduction_%20_(GO:0007165)|caveola_%20_(GO:0005901)_%7C_dendrite_%20_(GO:0030425)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_microtubule_%20_associated_%20_complex_%20_(GO:0005875)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_receptor_%20_complex_%20_(GO:0043235)|apolipoprotein_%20_binding_%20_(GO:0034185)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_high-density_%20_lipoprotein_%20_particle_%20_binding_%20_(GO:0008035)_%7C_reelin_%20_receptor_%20_activity_%20_(GO:0038025)_%7C_transmembrane_%20_signaling_%20_receptor_%20_activity_%20_(GO:0004888)_%7C_very-low-density_%20_lipoprotein_%20_particle_%20_receptor_%20_activity_%20_(GO:0030229)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 54354613 variant.3577 G A . PASS FUNCOTATION=[YIPF1|hg19|chr1|54354613|54354613|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:54354613G>A|ENST00000072644.1|-|3|||||0.38403990024937656|GCTGCCATTCGGCCAGTGAGT|YIPF1_ENST00000371399.1_INTRON/YIPF1_ENST00000539954.1_NONSENSE_p.R25*/YIPF1_ENST00000469457.1_INTRON/DIO1_ENST00000534069.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471059|NM_018982.4|NP_061855.1|HGNC:25231|Yip1_%20_domain_%20_family_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Yip1_%20_domain_%20_family_%2C__%20_member_%20_1"|DJ167A19.1_%2C__%20_FinGER1||1p32.3|2016-10-05||2015-11-11|BC009674||54432|ENSG00000058799|12477932|NM_018982|105|Yip1_%20_domain_%20_containing|CCDS584|OTTHUMG00000008074|54432|617521|NM_018982|Q9Y548|ENSG00000058799|uc001cvu.4|YIPF1_HUMAN||B2RCM7_%7C_D3DQ40_%7C_Q9NWJ1|Q9Y548||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_transport_%20_vesicle_%20_(GO:0030133)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 54354658 exm60875 T G . PASS FUNCOTATION=[YIPF1|hg19|chr1|54354658|54354658|FIVE_PRIME_UTR||SNP|T|T|G|g.chr1:54354658T>G|ENST00000072644.1|-|3|||||0.36658354114713215|ATTTGCAGGGTTCTAAAAGAA|YIPF1_ENST00000371399.1_INTRON/YIPF1_ENST00000539954.1_SPLICE_SITE_p.T10P/YIPF1_ENST00000469457.1_SPLICE_SITE/DIO1_ENST00000534069.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471059|NM_018982.4|NP_061855.1|HGNC:25231|Yip1_%20_domain_%20_family_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Yip1_%20_domain_%20_family_%2C__%20_member_%20_1"|DJ167A19.1_%2C__%20_FinGER1||1p32.3|2016-10-05||2015-11-11|BC009674||54432|ENSG00000058799|12477932|NM_018982|105|Yip1_%20_domain_%20_containing|CCDS584|OTTHUMG00000008074|54432|617521|NM_018982|Q9Y548|ENSG00000058799|uc001cvu.4|YIPF1_HUMAN||B2RCM7_%7C_D3DQ40_%7C_Q9NWJ1|Q9Y548||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_transport_%20_vesicle_%20_(GO:0030133)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 54354658 rs2294508 T G . PASS FUNCOTATION=[YIPF1|hg19|chr1|54354658|54354658|FIVE_PRIME_UTR||SNP|T|T|G|g.chr1:54354658T>G|ENST00000072644.1|-|3|||||0.36658354114713215|ATTTGCAGGGTTCTAAAAGAA|YIPF1_ENST00000371399.1_INTRON/YIPF1_ENST00000539954.1_SPLICE_SITE_p.T10P/YIPF1_ENST00000469457.1_SPLICE_SITE/DIO1_ENST00000534069.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471059|NM_018982.4|NP_061855.1|HGNC:25231|Yip1_%20_domain_%20_family_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Yip1_%20_domain_%20_family_%2C__%20_member_%20_1"|DJ167A19.1_%2C__%20_FinGER1||1p32.3|2016-10-05||2015-11-11|BC009674||54432|ENSG00000058799|12477932|NM_018982|105|Yip1_%20_domain_%20_containing|CCDS584|OTTHUMG00000008074|54432|617521|NM_018982|Q9Y548|ENSG00000058799|uc001cvu.4|YIPF1_HUMAN||B2RCM7_%7C_D3DQ40_%7C_Q9NWJ1|Q9Y548||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_transport_%20_vesicle_%20_(GO:0030133)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 54433403 indel.3593 TC T . PASS FUNCOTATION=[LRRC42|hg19|chr1|54433404|54433404|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:54433404delC|ENST00000371370.3|+|9|1599|c.1079delC|c.(1078-1080)tccfs|p.E361fs|0.46384039900249374|ATGAACTCTTCCGAGAAACTC|LRRC42_ENST00000319223.4_FRAME_SHIFT_DEL_p.E361fs/LRRC42_ENST00000477905.1_SPLICE_SITE|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471059|NM_001256409.1|NP_001243338.1|HGNC:28792|leucine_%20_rich_%20_repeat_%20_containing_%20_42|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC8974||1p32.3|2016-10-05|||AK075201||115353|ENSG00000116212|12477932|NM_052940|||CCDS585|OTTHUMG00000008436|115353||NM_001256409|Q9Y546|ENSG00000116212|uc001cwk.3|LRC42_HUMAN||D3DQ46_%7C_Q8N2Q8|Q9Y546|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 54637167 rs625643 T C . PASS FUNCOTATION=[AL357673.1|hg19|chr1|54637167|54637167|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:54637167T>C|ENST00000536061.1|-|1|||||0.5461346633416458|GAAGTGACGTTGGTAAACATG|RP11-446E24.4_ENST00000311841.7_INTRON/RP11-446E24.4_ENST00000525949.1_INTRON|||||||||||||||||||||||||||||||||CH471059||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 55134545 indel.3666 CT C . PASS FUNCOTATION=[MROH7|hg19|chr1|55134546|55134546|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:55134546delT|ENST00000421030.2|+|5|1609|c.1325delT|c.(1324-1326)cttfs|p.Q443fs|0.5586034912718204|GTCACCACCCTTCAGAAGAGC|MROH7_ENST00000395690.2_FRAME_SHIFT_DEL_p.Q443fs/MROH7_ENST00000409996.1_FRAME_SHIFT_DEL_p.Q11fs/MROH7_ENST00000339553.5_FRAME_SHIFT_DEL_p.Q443fs/MROH7_ENST00000545244.1_FRAME_SHIFT_DEL_p.Q11fs/MROH7_ENST00000454855.2_FIVE_PRIME_UTR/MROH7-TTC4_ENST00000414150.2_FRAME_SHIFT_DEL_p.Q443fs|||||||||||||||||||||||||||||||||CR749830|NM_001039464.2|NP_001034553.2|HGNC:24802|maestro_%20_heat_%20_like_%20_repeat_%20_family_%20_member_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf175_%2C__%20_HEATR8|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_175"_%2C__%20_"HEAT_%20_repeat_%20_containing_%20_8"_%2C__%20_"maestro_%20_heat-like_%20_repeat_%20_family_%20_member_%20_7"|FLJ46354||1p32.3|2016-01-22|2012-12-19|2016-01-22|AL832492||374977|ENSG00000184313|12477932|NM_198547|636|Maestro_%20_heat_%20_like_%20_repeat_%20_containing_%20_|CCDS41342|OTTHUMG00000009890|374977||NM_001039464|Q68CQ1|ENSG00000184313|uc010ooe.2|MROH7_HUMAN||A0AUX8_%7C_Q5TA99_%7C_Q6ZP40_%7C_Q6ZRH6_%7C_Q8N311_%7C_Q8NA14|Q68CQ1||extracellular_%20_space_%20_(GO:0005615)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false||false|false|||false|false|false|MROH7:374977_%7C_MROH7-TTC4:100527960|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|772326202|55134546|false|false|0|false|0|false|0.999931_%2C_6.8686e-005|false|false|true|DIV|true|0x050000401205040402000200|1|false|144|rs772326202|] -chr1 55207184 var_1_55207184 T TAG . PASS FUNCOTATION=[TTC4|hg19|chr1|55207184|55207185|FRAME_SHIFT_INS||INS|-|-|AG|g.chr1:55207184_55207185insAG|ENST00000371281.3|+|10|1249|c.1162_1163insAG|c.(1162-1164)tgafs|p.L389fs|0.51|CAGATACGATGACTAAGCCA|TTC4_ENST00000371284.5_INTRON/MROH7-TTC4_ENST00000414150.2_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_004623.4|NP_004614.3|HGNC:12394|tetratricopeptide_%20_repeat_%20_domain_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC5097_%2C__%20_FLJ41930_%2C__%20_CNS1||1p32.3|2017-05-19|||||7268|ENSG00000243725|9933562|NM_004623|769|Tetratricopeptide_%20_repeat_%20_domain_%20_containing|CCDS596|OTTHUMG00000009914|7268|606753|NM_001291333|O95801|ENSG00000243725|uc001cxx.5|TTC4_HUMAN||Q53Y95_%7C_Q5TA96_%7C_Q9H3I2|O95801|||||||true|false||false|false|||false|false|false|TTC4:7268_%7C_MROH7-TTC4:100527960|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|775455587|55207184|false|false|0|false|0|true||false|false|false|DIV|true|0x050000000305040402000200|1|false|144|rs775455587|] -chr1 55273582 indel.3699 CT C . PASS FUNCOTATION=[C1orf177|hg19|chr1|55273583|55273583|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:55273583delT|ENST00000371273.3|+|4|393|c.379delT|c.(379-381)tccfs|p.S127fs|0.543640897755611|GGGCCCCGGCTCCTACAACCT|C1orf177_ENST00000358193.3_FRAME_SHIFT_DEL_p.S127fs|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC064142|NM_001110533.1|NP_001104003.1||||||||||||||||||||||||||||||CA177_HUMAN||B7WPL2_%7C_Q8N7Y9|Q3ZCV2|||||||true|false||false|false|||false|false|false|LEXM:163747|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|761239382|55273583|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040002000200|1|false|144|rs761239382|] -chr1 55307523 indel.3707 TA T . PASS FUNCOTATION=[C1orf177|hg19|chr1|55307524|55307524|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:55307524delA|ENST00000371273.3|+|10|1249|c.1235delA|c.(1234-1236)tacfs|p.Y412fs|0.4937655860349127|ACTGTGGATTACAATTCAGAT|C1orf177_ENST00000358193.3_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC064142|NM_001110533.1|NP_001104003.1||||||||||||||||||||||||||||||CA177_HUMAN||B7WPL2_%7C_Q8N7Y9|Q3ZCV2|||||||true|false||false|false|||false|false|false|LEXM:163747|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|777519771|55307524|false|false|0|false|0|false||false|true|false|DIV|false|0x050000801205000402000200|1|false|144|rs777519771|] -chr1 57258130 indel.3786 TG T . PASS FUNCOTATION=[C1orf168|hg19|chr1|57258131|57258131|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:57258131delG|ENST00000343433.6|-|2|437|c.355delC|c.(355-357)caafs|p.Q119fs|0.456359102244389|ACATTTGATTGAGTCACCTCT|C1orf168_ENST00000484327.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BX648439|NM_001004303.4|NP_001004303.3||||||||||||||||||||||||||||||CA168_HUMAN||Q63HM3_%7C_Q6ZUY6|Q5VWT5|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 57351822 indel.3791 GC G . PASS FUNCOTATION=[C8A|hg19|chr1|57351823|57351823|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:57351823delC|ENST00000361249.3|+|7|1174|c.1079delC|c.(1078-1080)gcafs|p.A360fs|0.40648379052369077|ATTGACAAAGCAAAAATGGAA||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||U08006|NM_000562.2|NP_000553.1|HGNC:1352|complement_%20_C8_%20_alpha_%20_chain|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"complement_%20_component_%20_8_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"complement_%20_component_%20_8_%20_alpha_%20_subunit"|||1p32.2|2017-03-24||2016-08-10|M16974||731|ENSG00000157131||NM_000562|492|Complement_%20_system|CCDS606|OTTHUMG00000008306|731|120950|NM_000562|P07357|ENSG00000157131|uc001cyo.3|CO8A_HUMAN||A2RUI4_%7C_A2RUI5_%7C_Q13668_%7C_Q9H130|P07357|complement_%20_activation_%20_(GO:0006956)_%7C_complement_%20_activation_%2C__%20_alternative_%20_pathway_%20_(GO:0006957)_%7C_complement_%20_activation_%2C__%20_classical_%20_pathway_%20_(GO:0006958)_%7C_cytolysis_%20_(GO:0019835)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_regulation_%20_of_%20_complement_%20_activation_%20_(GO:0030449)|blood_%20_microparticle_%20_(GO:0072562)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_attack_%20_complex_%20_(GO:0005579)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 60228226 indel.3843 GGAGT G . PASS FUNCOTATION=[FGGY|hg19|chr1|60228227|60228230|FRAME_SHIFT_DEL||DEL|GAGT|GAGT|-|g.chr1:60228227_60228230delGAGT|ENST00000371218.4|+|17|1882_1885|c.1699_1702delGAGT|c.(1699-1704)gagtatfs|p.E567fs|0.3886138613861386|ACACCAGAAGGAGTATTTGGCGAT|FGGY_ENST00000371212.1_FRAME_SHIFT_DEL_p.E455fs/FGGY_ENST00000303721.7_FRAME_SHIFT_DEL_p.E543fs/FGGY_ENST00000371210.1_FRAME_SHIFT_DEL_p.E244fs/RP4-782L23.2_ENST00000443012.1_RNA|||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(1)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471059|NM_001113411.1|NP_001106882.1|HGNC:25610|FGGY_%20_carbohydrate_%20_kinase_%20_domain_%20_containing|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10986||1p32.1|2015-09-11|||||55277|ENSG00000172456|17671248|NM_001113411|||CCDS611_%2C__%20_CCDS44155_%2C__%20_CCDS58003_%2C__%20_CCDS60155|OTTHUMG00000008424|55277|611370|NM_001113411|Q96C11|ENSG00000172456|uc001czi.6|FGGY_HUMAN||B1AK92_%7C_B1AK93_%7C_B1AK94_%7C_B2RDR8_%7C_D3DQ56_%7C_Q9HA63_%7C_Q9NV20|Q96C11|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cell_%20_death_%20_(GO:0008219)_%7C_neuron_%20_cellular_%20_homeostasis_%20_(GO:0070050)||kinase_%20_activity_%20_(GO:0016301)_%7C_phosphotransferase_%20_activity_%2C__%20_alcohol_%20_group_%20_as_%20_acceptor_%20_(GO:0016773)||||true|false||false|false|||false|false|false|FGGY:55277|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|747593219|60228227|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs747593219|] -chr1 60228254 exm1845312 T C . PASS FUNCOTATION=[FGGY|hg19|chr1|60228254|60228254|NONSTOP||SNP|T|T|C|g.chr1:60228254T>C|ENST00000371218.4|+|17|1910|c.1726T>C|c.(1726-1728)Tga>Cga|p.*576R|0.3765586034912718|GAATGATGACTGAACAGGGCT|FGGY_ENST00000371212.1_NONSTOP_p.*464R/FGGY_ENST00000303721.7_NONSTOP_p.*552R/FGGY_ENST00000371210.1_NONSTOP_p.*253R/RP4-782L23.2_ENST00000443012.1_RNA|||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(1)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471059|NM_001113411.1|NP_001106882.1|HGNC:25610|FGGY_%20_carbohydrate_%20_kinase_%20_domain_%20_containing|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10986||1p32.1|2015-09-11|||||55277|ENSG00000172456|17671248|NM_001113411|||CCDS611_%2C__%20_CCDS44155_%2C__%20_CCDS58003_%2C__%20_CCDS60155|OTTHUMG00000008424|55277|611370|NM_001113411|Q96C11|ENSG00000172456|uc001czi.6|FGGY_HUMAN||B1AK92_%7C_B1AK93_%7C_B1AK94_%7C_B2RDR8_%7C_D3DQ56_%7C_Q9HA63_%7C_Q9NV20|Q96C11|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cell_%20_death_%20_(GO:0008219)_%7C_neuron_%20_cellular_%20_homeostasis_%20_(GO:0070050)||kinase_%20_activity_%20_(GO:0016301)_%7C_phosphotransferase_%20_activity_%2C__%20_alcohol_%20_group_%20_as_%20_acceptor_%20_(GO:0016773)||||true|false|0.9996_%2C_0.0003994_%2C_.|false|false|0||false|false|false|FGGY:55277|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201875327|60228254|false|false|0|false|0|false|0.999897_%2C_._%2C_0.000103029|false|false|false|SNV|true|0x050000000205040436000100|1|false|137|rs201875327|] -chr1 60359359 indel.3849 TG T . PASS FUNCOTATION=[CYP2J2|hg19|chr1|60359360|60359360|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:60359360delG|ENST00000371204.3|-|9|1517|c.1472delC|c.(1471-1473)ccafs|p.P491fs|0.4513715710723192|GTGACTGACTGGGGAAATGGT|CYP2J2_ENST00000492633.1_INTRON|||||||||||||||||||||||||93|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||U37143|NM_000775.2|NP_000766.2|HGNC:2634|cytochrome_%20_P450_%20_family_%20_2_%20_subfamily_%20_J_%20_member_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"cytochrome_%20_P450_%2C__%20_subfamily_%20_IIJ_%20_(arachidonic_%20_acid_%20_epoxygenase)_%20_polypeptide_%20_2"_%2C__%20_"cytochrome_%20_P450_%2C__%20_family_%20_2_%2C__%20_subfamily_%20_J_%2C__%20_polypeptide_%20_2"|||1p32.1|2016-10-05||2015-12-09|BC032594||1573|ENSG00000134716|9570962|NM_000775|1001|Cytochrome_%20_P450_%20_family_%20_2|CCDS613|OTTHUMG00000008991|1573|601258|NM_000775|P51589|ENSG00000134716|uc001czq.4|CP2J2_HUMAN|Apixaban(DB06605)_%7C_Astemizole(DB00637)_%7C_Cholecalciferol(DB00169)_%7C_Levomilnacipran(DB08918)_%7C_Masoprocol(DB00179)_%7C_Rivaroxaban(DB06228)|B2RD33_%7C_Q8TF13|P51589|arachidonic_%20_acid_%20_metabolic_%20_process_%20_(GO:0019369)_%7C_epoxygenase_%20_P450_%20_pathway_%20_(GO:0019373)_%7C_icosanoid_%20_metabolic_%20_process_%20_(GO:0006690)_%7C_linoleic_%20_acid_%20_metabolic_%20_process_%20_(GO:0043651)_%7C_regulation_%20_of_%20_heart_%20_contraction_%20_(GO:0008016)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)|arachidonic_%20_acid_%20_11_%2C_12-epoxygenase_%20_activity_%20_(GO:0008405)_%7C_arachidonic_%20_acid_%20_14_%2C_15-epoxygenase_%20_activity_%20_(GO:0008404)_%7C_arachidonic_%20_acid_%20_epoxygenase_%20_activity_%20_(GO:0008392)_%7C_aromatase_%20_activity_%20_(GO:0070330)_%7C_heme_%20_binding_%20_(GO:0020037)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)_%7C_linoleic_%20_acid_%20_epoxygenase_%20_activity_%20_(GO:0071614)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 60491129 indel.3860 CA C . PASS FUNCOTATION=[C1orf87|hg19|chr1|60491130|60491130|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:60491130delA|ENST00000371201.3|-|8|1179|c.1070delT|c.(1069-1071)ctgfs|p.L357fs|0.3341645885286783|CAGCAGGCTCAGGGTCAGATA|C1orf87_ENST00000450089.2_FRAME_SHIFT_DEL_p.L128fs|NSCLC(75_%3B_811_%20_1386_%20_4923_%20_13371_%20_51772)||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||BC042203|NM_152377.2|NP_689590.1|HGNC:28547|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_87|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC34837_%2C__%20_CREF|"carcinoma-related_%20_EF-hand_%20_protein"|1p32.1|2016-09-30|||AK124828||127795|ENSG00000162598|25048349|NM_152377|||CCDS614|OTTHUMG00000008992|127795||NM_152377|Q8N0U7|ENSG00000162598|uc001czs.3|CA087_HUMAN||Q6ZU07_%7C_Q8IVS0|Q8N0U7|||calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 60503684 indel.3864 AC A . PASS FUNCOTATION=[C1orf87|hg19|chr1|60503685|60503685|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:60503685delC|ENST00000371201.3|-|6|951|c.842delG|c.(841-843)agtfs|p.S281fs|0.3790523690773067|AGTGCCATGACTCTCAGTTTT|C1orf87_ENST00000450089.2_INTRON|NSCLC(75_%3B_811_%20_1386_%20_4923_%20_13371_%20_51772)||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||BC042203|NM_152377.2|NP_689590.1|HGNC:28547|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_87|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC34837_%2C__%20_CREF|"carcinoma-related_%20_EF-hand_%20_protein"|1p32.1|2016-09-30|||AK124828||127795|ENSG00000162598|25048349|NM_152377|||CCDS614|OTTHUMG00000008992|127795||NM_152377|Q8N0U7|ENSG00000162598|uc001czs.3|CA087_HUMAN||Q6ZU07_%7C_Q8IVS0|Q8N0U7|||calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 62235087 indel.3867 GC G . PASS FUNCOTATION=[INADL|hg19|chr1|62235088|62235088|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:62235088delC|ENST00000371158.2|+|5|631|c.518delC|c.(517-519)gcafs|p.A173fs|0.38902743142144636|GGGAGTGTAGCAGACAGGTGA|INADL_ENST00000316485.6_FRAME_SHIFT_DEL_p.A173fs|||||||||||||||||||||||||201|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(99)_%7C_pancreas(22)_%7C_soft_tissue(12)|||||||BC021135|NM_176877.2|NP_795352.2||||||||||||||||||||||||||||||INADL_HUMAN||O15249_%7C_O43742_%7C_O60833_%7C_Q5VUA5_%7C_Q5VUA6_%7C_Q5VUA7_%7C_Q5VUA8_%7C_Q5VUA9_%7C_Q5VUB0_%7C_Q8WU78_%7C_Q9H3N9|Q8NI35|cell_%20_junction_%20_assembly_%20_(GO:0034329)_%7C_cell-cell_%20_junction_%20_organization_%20_(GO:0045216)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_tight_%20_junction_%20_assembly_%20_(GO:0070830)|apical_%20_part_%20_of_%20_cell_%20_(GO:0045177)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 62586957 indel.3890 GA G . PASS FUNCOTATION=[INADL|hg19|chr1|62586958|62586958|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:62586958delA|ENST00000371158.2|+|38|5109|c.4996delA|c.(4996-4998)aaafs|p.N1667fs|0.42643391521197005|TCCTTCCCAGAAAAATTCAGG|INADL_ENST00000472512.1_INTRON|||||||||||||||||||||||||201|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(99)_%7C_pancreas(22)_%7C_soft_tissue(12)|||||||BC021135|NM_176877.2|NP_795352.2||||||||||||||||||||||||||||||INADL_HUMAN||O15249_%7C_O43742_%7C_O60833_%7C_Q5VUA5_%7C_Q5VUA6_%7C_Q5VUA7_%7C_Q5VUA8_%7C_Q5VUA9_%7C_Q5VUB0_%7C_Q8WU78_%7C_Q9H3N9|Q8NI35|cell_%20_junction_%20_assembly_%20_(GO:0034329)_%7C_cell-cell_%20_junction_%20_organization_%20_(GO:0045216)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_tight_%20_junction_%20_assembly_%20_(GO:0070830)|apical_%20_part_%20_of_%20_cell_%20_(GO:0045177)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 62672471 indel.3900 CT C . PASS FUNCOTATION=[L1TD1|hg19|chr1|62672472|62672472|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:62672472delT|ENST00000498273.1|+|3|466|c.172delT|c.(172-174)ttafs|p.L58fs|0.3516209476309227|GTTTAAGGTCTTAATGGAAAT|Y_RNA_ENST00000363304.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC111559|NM_019079.4|NP_061952.3|HGNC:25595|LINE1_%20_type_%20_transposase_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10884_%2C__%20_ECAT11||1p31.3|2016-06-13||2016-06-13|BC060808||54596|ENSG00000240563|12477932|NM_019079|||CCDS619|OTTHUMG00000008914|54596||NM_001164835|Q5T7N2|ENSG00000240563|uc001dae.6|LITD1_HUMAN||Q8NDA1_%7C_Q9NUV8_%7C_Q9NV78|Q5T7N2|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 63282434 indel.3957 CA C . PASS FUNCOTATION=[ATG4C|hg19|chr1|63282435|63282435|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:63282435delA|ENST00000317868.4|+|4|556|c.350delA|c.(349-351)cagfs|p.Q117fs|0.371571072319202|AGAACTGGCCAGATGCTCTTG|ATG4C_ENST00000371120.3_FRAME_SHIFT_DEL_p.Q117fs|||||||||||||||||||||||ATG4C{ENST00000371120}:r.1_1368_FBXO38{ENST00000340253}:r.1433_4424(2)||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_032852.3|NP_116241.2|HGNC:16040|autophagy_%20_related_%20_4C_%20_cysteine_%20_peptidase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AUTL1_%2C__%20_APG4C|"AUT_%20_(S._%20_cerevisiae)-like_%20_1_%2C__%20_cysteine_%20_endopeptidase_%3B__%20_AUT-like_%20_1_%2C__%20_cysteine_%20_endopeptidase_%20_(S._%20_cerevisiae)"_%2C__%20_"APG4_%20_autophagy_%20_4_%20_homolog_%20_C_%20_(S._%20_cerevisiae)"_%2C__%20_"ATG4_%20_autophagy_%20_related_%20_4_%20_homolog_%20_C_%20_(S._%20_cerevisiae)"_%2C__%20_"autophagy_%20_related_%20_4C_%2C__%20_cysteine_%20_peptidase"|FLJ14867_%2C__%20_AUTL3||1p31.3|2016-02-23|2005-09-11|2016-02-23|AK027773||84938|ENSG00000125703|12446702|NM_032852|1022|Autophagy_%20_related|CCDS623|OTTHUMG00000009142|84938|611339|NM_032852|Q96DT6|ENSG00000125703|uc001dat.5|ATG4C_HUMAN||A6NLR8_%7C_D3DQ58_%7C_Q96K04|Q96DT6|autophagic_%20_vacuole_%20_assembly_%20_(GO:0000045)_%7C_autophagy_%20_(GO:0006914)_%7C_protein_%20_targeting_%20_to_%20_membrane_%20_(GO:0006612)_%7C_proteolysis_%20_(GO:0006508)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|cysteine-type_%20_endopeptidase_%20_activity_%20_(GO:0004197)_%7C_peptidase_%20_activity_%20_(GO:0008233)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 63300482 indel.3964 CA C . PASS FUNCOTATION=[ATG4C|hg19|chr1|63300483|63300483|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:63300483delA|ENST00000317868.4|+|9|1255|c.1049delA|c.(1048-1050)caafs|p.Q350fs|0.3341645885286783|CATTACTGCCAATCTTTTGTA|ATG4C_ENST00000371120.3_FRAME_SHIFT_DEL_p.Q350fs|||||||||||||||||||||||ATG4C{ENST00000371120}:r.1_1368_FBXO38{ENST00000340253}:r.1433_4424(2)||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_032852.3|NP_116241.2|HGNC:16040|autophagy_%20_related_%20_4C_%20_cysteine_%20_peptidase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AUTL1_%2C__%20_APG4C|"AUT_%20_(S._%20_cerevisiae)-like_%20_1_%2C__%20_cysteine_%20_endopeptidase_%3B__%20_AUT-like_%20_1_%2C__%20_cysteine_%20_endopeptidase_%20_(S._%20_cerevisiae)"_%2C__%20_"APG4_%20_autophagy_%20_4_%20_homolog_%20_C_%20_(S._%20_cerevisiae)"_%2C__%20_"ATG4_%20_autophagy_%20_related_%20_4_%20_homolog_%20_C_%20_(S._%20_cerevisiae)"_%2C__%20_"autophagy_%20_related_%20_4C_%2C__%20_cysteine_%20_peptidase"|FLJ14867_%2C__%20_AUTL3||1p31.3|2016-02-23|2005-09-11|2016-02-23|AK027773||84938|ENSG00000125703|12446702|NM_032852|1022|Autophagy_%20_related|CCDS623|OTTHUMG00000009142|84938|611339|NM_032852|Q96DT6|ENSG00000125703|uc001dat.5|ATG4C_HUMAN||A6NLR8_%7C_D3DQ58_%7C_Q96K04|Q96DT6|autophagic_%20_vacuole_%20_assembly_%20_(GO:0000045)_%7C_autophagy_%20_(GO:0006914)_%7C_protein_%20_targeting_%20_to_%20_membrane_%20_(GO:0006612)_%7C_proteolysis_%20_(GO:0006508)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|cysteine-type_%20_endopeptidase_%20_activity_%20_(GO:0004197)_%7C_peptidase_%20_activity_%20_(GO:0008233)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 63902553 indel.3980 TCC T . PASS FUNCOTATION=[ALG6|hg19|chr1|63902554|63902555|FRAME_SHIFT_DEL||DEL|CC|CC|-|g.chr1:63902554_63902555delCC|ENST00000263440.4|+|14|1600_1601|c.1393_1394delCC|c.(1393-1395)cctfs|p.P465fs|0.35572139303482586|ACTGGATCCTCCTCAGAAACTA|ALG6_ENST00000371108.4_FRAME_SHIFT_DEL_p.P463fs/ALG6_ENST00000494765.1_INTRON|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||AL592218|||HGNC:23157|ALG6_%2C__%20_alpha-1_%2C_3-glucosyltransferase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"asparagine-linked_%20_glycosylation_%20_6_%20_homolog_%20_(yeast_%2C__%20_alpha-1_%2C_3-glucosyltransferase)"_%2C__%20_"asparagine-linked_%20_glycosylation_%20_6_%2C__%20_alpha-1_%2C_3-glucosyltransferase_%20_homolog_%20_(S._%20_cerevisiae)"||"dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol_%20_alpha-_%20_1->3-glucosyltransferase"|1p31.3|2014-11-19||2013-03-01|AF063604|2.4.1.267|29929|ENSG00000088035|10359825_%2C__%20_11875054|NM_013339|447|Alpha-1_%2C_3-glucosyltransferases|CCDS30735|OTTHUMG00000009140|29929|604566|NM_013339|Q9Y672|ENSG00000088035|uc021oof.1|ALG6_HUMAN||B3KMU2_%7C_Q5SXR9_%7C_Q9H3I0|Q9Y672|cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_dolichol-linked_%20_oligosaccharide_%20_biosynthetic_%20_process_%20_(GO:0006488)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)_%7C_protein_%20_N-linked_%20_glycosylation_%20_(GO:0006487)_%7C_protein_%20_N-linked_%20_glycosylation_%20_via_%20_asparagine_%20_(GO:0018279)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)|glucosyltransferase_%20_activity_%20_(GO:0046527)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 63999793 indel.3992 CAA C . PASS FUNCOTATION=[EFCAB7|hg19|chr1|63999794|63999795|FRAME_SHIFT_DEL||DEL|AA|AA|-|g.chr1:63999794_63999795delAA|ENST00000371088.4|+|6|956_957|c.711_712delAA|c.(709-714)gcaaccfs|p.T238fs|0.32587064676616917|TACTGTCAGCAACCAGGAAGTT|RN7SL488P_ENST00000585186.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471059|NM_032437.2|NP_115813.2|HGNC:29379|EF-hand_%20_calcium_%20_binding_%20_domain_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA1799_%2C__%20_RP4-534K7.1||1p31.3|2014-11-19|||BC015814||84455|ENSG00000203965|11347906|NM_032437|863|EF-hand_%20_domain_%20_containing|CCDS30737|OTTHUMG00000008983|84455|617632|NM_032437|A8K855|ENSG00000203965|uc001dbf.4|EFCB7_HUMAN||Q658P0_%7C_Q96B95_%7C_Q96JM6|A8K855|||calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 64669794 indel.4009 TATAAG T . PASS FUNCOTATION=[UBE2U|hg19|chr1|64669795|64669799|SPLICE_SITE|FRAME_SHIFT_DEL|DEL|ATAAG|ATAAG|-|g.chr1:64669795_64669799delATAAG|ENST00000371076.3|+|1|305_309|c.62_66delATAAG|c.(61-66)tataagfs|p.Y21fs|0.3654320987654321|GAGAACAATTATAAGGTAAGTACTG||||||||||||||||||||||||||178|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC029895|NM_152489.1|NP_689702.1|HGNC:28559|ubiquitin_%20_conjugating_%20_enzyme_%20_E2_%20_U_%20_(putative)|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ubiquitin-conjugating_%20_enzyme_%20_E2U_%20_(putative)"|MGC35130||1p31.3|2016-03-14||2016-03-14|BC029895||148581|ENSG00000177414|12477932|NM_152489|102|Ubiquitin_%20_conjugating_%20_enzymes_%20_E2|CCDS627|OTTHUMG00000009023|148581||NM_152489|Q5VVX9|ENSG00000177414|uc001dbn.1|UBE2U_HUMAN||Q8N1D4|Q5VVX9|protein_%20_ubiquitination_%20_(GO:0016567)||acid-amino_%20_acid_%20_ligase_%20_activity_%20_(GO:0016881)_%7C_ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 64676467 var_1_64676467 AC A . PASS FUNCOTATION=[UBE2U|hg19|chr1|64676468|64676468|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:64676468delC|ENST00000371076.3|+|4|528|c.285delC|c.(283-285)aacfs|p.P96fs|0.30423940149625933|TTTTGGACAACCCTGAGAAGT|UBE2U_ENST00000464349.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||178|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC029895|NM_152489.1|NP_689702.1|HGNC:28559|ubiquitin_%20_conjugating_%20_enzyme_%20_E2_%20_U_%20_(putative)|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ubiquitin-conjugating_%20_enzyme_%20_E2U_%20_(putative)"|MGC35130||1p31.3|2016-03-14||2016-03-14|BC029895||148581|ENSG00000177414|12477932|NM_152489|102|Ubiquitin_%20_conjugating_%20_enzymes_%20_E2|CCDS627|OTTHUMG00000009023|148581||NM_152489|Q5VVX9|ENSG00000177414|uc001dbn.1|UBE2U_HUMAN||Q8N1D4|Q5VVX9|protein_%20_ubiquitination_%20_(GO:0016567)||acid-amino_%20_acid_%20_ligase_%20_activity_%20_(GO:0016881)_%7C_ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 67288063 indel.4057 G GCT . PASS FUNCOTATION=[WDR78|hg19|chr1|67288063|67288064|FRAME_SHIFT_INS||INS|-|-|CT|g.chr1:67288063_67288064insCT|ENST00000371026.3|-|16|2533|c.2476_2477insAG|c.(2476-2478)actfs|p.T826fs|0.3275|TCCAAAACAGTAGGCATATT|WDR78_ENST00000431318.1_FRAME_SHIFT_INS_p.T539fs/RP11-342H21.2_ENST00000456389.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC032406|NM_024763.4|NP_079039.4|HGNC:26252|WD_%20_repeat_%20_domain_%20_78|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||DIC4_%2C__%20_FLJ23129||1p31.3|2016-10-05|2013-02-19|2013-02-19|BX648840||79819|ENSG00000152763|21953912|NM_024763|362|WD_%20_repeat_%20_domain_%20_containing|CCDS635_%2C__%20_CCDS44157|OTTHUMG00000009165|79819||NM_024763|Q5VTH9|ENSG00000152763|uc001dcx.5|WDR78_HUMAN||A8K9W5_%7C_B5MDT3_%7C_H7BY80_%7C_Q5VTI0_%7C_Q8N5G5_%7C_Q9H5R9_%7C_Q9UF44|Q5VTH9|hematopoietic_%20_progenitor_%20_cell_%20_differentiation_%20_(GO:0002244)||||||true|false||false|false|||false|false|false|WDR78:79819|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|754415129|67288063|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs754415129|] -chr1 67474834 indel.4082 TAA T . PASS FUNCOTATION=[SLC35D1|hg19|chr1|67474835|67474836|FRAME_SHIFT_DEL||DEL|AA|AA|-|g.chr1:67474835_67474836delAA|ENST00000235345.5|-|11|979_980|c.891_892delTT|c.(889-891)actfs|p.I299fs|0.26616915422885573|ATTCCAATATAAGTTATTAATA|SLC35D1_ENST00000506472.2_FRAME_SHIFT_DEL_p.I220fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||D87449|NM_015139.2|NP_055954.1|HGNC:20800|solute_%20_carrier_%20_family_%20_35_%20_member_%20_D1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_35_%20_(UDP-glucuronic_%20_acid/UDP-N-acetylgalactosamine_%20_dual_%20_transporter)_%2C__%20_member_%20_D1"_%2C__%20_"solute_%20_carrier_%20_family_%20_35_%20_(UDP-GlcA/UDP-GalNAc_%20_transporter)_%2C__%20_member_%20_D1"|UGTREL7_%2C__%20_KIAA0260||1p31.3|2016-02-17||2016-02-17|AB044343||23169|ENSG00000116704|11322953|NM_015139|752|Solute_%20_carriers|CCDS636|OTTHUMG00000009360|23169|610804|NM_015139|Q9NTN3|ENSG00000116704|uc001ddk.3|S35D1_HUMAN||A8K185_%7C_B7Z3X2_%7C_Q52LU5_%7C_Q92548|Q9NTN3|carbohydrate_%20_transport_%20_(GO:0008643)_%7C_cellular_%20_glucuronidation_%20_(GO:0052695)_%7C_chondroitin_%20_sulfate_%20_biosynthetic_%20_process_%20_(GO:0030206)_%7C_embryonic_%20_skeletal_%20_system_%20_development_%20_(GO:0048706)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transmembrane_%20_transport_%20_(GO:0055085)_%7C_UDP-glucuronate_%20_biosynthetic_%20_process_%20_(GO:0006065)_%7C_UDP-glucuronic_%20_acid_%20_transport_%20_(GO:0015787)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|UDP-glucuronic_%20_acid_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005461)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 67773351 rs12142823 C T . PASS FUNCOTATION=[IL12RB2|hg19|chr1|67773351|67773351|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:67773351C>T|ENST00000262345.1|+|1|||||0.6633416458852868|GTGGAAACCACGGGCGCCCGC|IL12RB2_ENST00000371000.1_DE_NOVO_START_OUT_FRAME/IL12RB2_ENST00000541374.1_FIVE_PRIME_FLANK/IL12RB2_ENST00000544434.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U64198|NM_001559.2|NP_001550.1|HGNC:5972|interleukin_%20_12_%20_receptor_%20_subunit_%20_beta_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"interleukin_%20_12_%20_receptor_%2C__%20_beta_%20_2"|||1p31.3|2016-10-05||2015-12-11|U64198||3595|ENSG00000081985|9284929_%2C__%20_8943050|NM_001559|555_%7C_602|Fibronectin_%20_type_%20_III_%20_domain_%20_containing_%7C_Interleukin_%20_receptors|CCDS638_%2C__%20_CCDS58006_%2C__%20_CCDS58007_%2C__%20_CCDS72805|OTTHUMG00000009094|3595|601642|NM_001258214|Q99665|ENSG00000081985|uc001ddu.3|I12R2_HUMAN||B1AN98_%7C_B7ZKL9_%7C_F5H7L6_%7C_Q2M3V3|Q99665|cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007166)_%7C_cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_interferon-gamma_%20_production_%20_(GO:0032609)_%7C_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0018108)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_interferon-gamma_%20_production_%20_(GO:0032729)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|cytokine_%20_receptor_%20_activity_%20_(GO:0004896)||||true|false|0.8325_%2C_._%2C_0.1675|false|false|1||false|true|true|IL12RB2:3595|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|12142823|67773351|false|false|0|true|0|false|0.85727_%2C_6.8686e-005_%2C_0.142661|false|false|true|SNV|true|0x05010042000517053e000100|1|false|120|rs12142823|] -chr1 68564373 indel.4122 TC T . PASS FUNCOTATION=[WLS|hg19|chr1|68564374|68564374|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:68564374delC|ENST00000354777.2|-|12|1820|c.1573delG|c.(1573-1575)gaafs|p.E525fs|0.3341645885286783|CTGAACAATTCTTGATAAAGT|WLS_ENST00000540432.1_FRAME_SHIFT_DEL_p.E527fs/GNG12-AS1_ENST00000420587.1_RNA/GNG12-AS1_ENST00000413628.1_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||DQ323735|NM_001002292.3|NP_001002292.3|HGNC:30238|wntless_%20_Wnt_%20_ligand_%20_secretion_%20_mediator|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf139_%2C__%20_GPR177|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_139"_%2C__%20_"G_%20_protein-coupled_%20_receptor_%20_177"_%2C__%20_"wntless_%20_homolog_%20_(Drosophila)"|FLJ23091_%2C__%20_MRP_%2C__%20_wls_%2C__%20_EVI_%2C__%20_mig-14|"wntless_%20_homolog"|1p31.3|2016-10-05|2010-03-02|2013-10-03|BX538320||79971|ENSG00000116729|12761501|NM_024911|||CCDS642_%2C__%20_CCDS30750_%2C__%20_CCDS53331|OTTHUMG00000009153|79971|611514|NM_001002292|Q5T9L3|ENSG00000116729|uc001def.3|WLS_HUMAN||B2RNT2_%7C_Q5JRS7_%7C_Q7Z2Z9_%7C_Q8NC43|Q5T9L3|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_mesoderm_%20_formation_%20_(GO:0001707)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055)|cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_early_%20_endosome_%20_membrane_%20_(GO:0031901)_%7C_Golgi_%20_membrane_%20_(GO:0000139)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 68564392 indel.4123 CA C . PASS FUNCOTATION=[WLS|hg19|chr1|68564393|68564393|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:68564393delA|ENST00000354777.2|-|12|1801|c.1554delT|c.(1552-1554)tttfs|p.F518fs|0.33915211970074816|GTTCCGAAACAAACAAAGCAC|WLS_ENST00000540432.1_FRAME_SHIFT_DEL_p.F520fs/GNG12-AS1_ENST00000420587.1_RNA/GNG12-AS1_ENST00000413628.1_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||DQ323735|NM_001002292.3|NP_001002292.3|HGNC:30238|wntless_%20_Wnt_%20_ligand_%20_secretion_%20_mediator|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf139_%2C__%20_GPR177|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_139"_%2C__%20_"G_%20_protein-coupled_%20_receptor_%20_177"_%2C__%20_"wntless_%20_homolog_%20_(Drosophila)"|FLJ23091_%2C__%20_MRP_%2C__%20_wls_%2C__%20_EVI_%2C__%20_mig-14|"wntless_%20_homolog"|1p31.3|2016-10-05|2010-03-02|2013-10-03|BX538320||79971|ENSG00000116729|12761501|NM_024911|||CCDS642_%2C__%20_CCDS30750_%2C__%20_CCDS53331|OTTHUMG00000009153|79971|611514|NM_001002292|Q5T9L3|ENSG00000116729|uc001def.3|WLS_HUMAN||B2RNT2_%7C_Q5JRS7_%7C_Q7Z2Z9_%7C_Q8NC43|Q5T9L3|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_mesoderm_%20_formation_%20_(GO:0001707)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055)|cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_early_%20_endosome_%20_membrane_%20_(GO:0031901)_%7C_Golgi_%20_membrane_%20_(GO:0000139)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 70820699 indel.4171 GC G . PASS FUNCOTATION=[HHLA3|hg19|chr1|70820700|70820700|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:70820700delC|ENST00000359875.5|+|1|205|c.66delC|c.(64-66)tgcfs|p.C22fs|0.5586034912718204|CAGAGGAATGCAGAATGACGC|HHLA3_ENST00000370940.5_FRAME_SHIFT_DEL_p.C22fs/HHLA3_ENST00000361764.4_FRAME_SHIFT_DEL_p.C22fs/HHLA3_ENST00000531950.1_FRAME_SHIFT_DEL_p.C22fs/HHLA3_ENST00000432224.1_FRAME_SHIFT_DEL_p.C22fs/ANKRD13C_ENST00000262346.6_FIVE_PRIME_FLANK/ANKRD13C_ENST00000370944.4_FIVE_PRIME_FLANK/HHLA3_ENST00000486110.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_001036645.1|NP_001031722.1|HGNC:4906|HERV-H_%20_LTR-associating_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p31.1|2014-11-19|||AF126164||11147|ENSG00000197568|10444326|NM_007071|||CCDS649_%2C__%20_CCDS30752_%2C__%20_CCDS30753|OTTHUMG00000009346|11147|604372|NM_001031693|Q9XRX5|ENSG00000197568|uc001dfb.4|HHLA3_HUMAN||D3DQ74_%7C_Q5VZP2_%7C_Q96FH5_%7C_Q9XRX4|Q9XRX5|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 70904381 indel.4182 AC A . PASS FUNCOTATION=[CTH|hg19|chr1|70904382|70904382|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:70904382delC|ENST00000370938.3|+|11|1207|c.1064delC|c.(1063-1065)actfs|p.T355fs|0.38902743142144636|GCAATCATGACTCATGCATCA|CTH_ENST00000346806.2_FRAME_SHIFT_DEL_p.T311fs/CTH_ENST00000411986.2_FRAME_SHIFT_DEL_p.T323fs|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||S52784|NM_001902.5|NP_001893.2|HGNC:2501|cystathionine_%20_gamma-lyase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"cystathionase_%20_(cystathionine_%20_gamma-lyase)"|||1p31.1|2015-08-24||2014-06-24|BC015807|4.4.1.1|1491|ENSG00000116761|1339280|NM_001902|||CCDS650_%2C__%20_CCDS651_%2C__%20_CCDS53333|OTTHUMG00000009352|1491|607657|NM_001190463|P32929|ENSG00000116761|uc001dfd.4|VSIG2_HUMAN||O95791_%7C_Q9NX42|Q96IQ7||integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_membrane_%20_(GO:0016020)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 71418631 indel.4185 TG T . PASS FUNCOTATION=[PTGER3|hg19|chr1|71418632|71418632|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:71418632delG|ENST00000356595.4|-|4|1427|c.1215delC|c.(1213-1215)agcfs|p.S405fs|0.3740648379052369|ACACATTAATGCTGCTCACGA|PTGER3_ENST00000414819.1_THREE_PRIME_UTR/PTGER3_ENST00000370931.3_INTRON/PTGER3_ENST00000460330.1_INTRON/PTGER3_ENST00000370932.2_INTRON/PTGER3_ENST00000351052.5_INTRON/PTGER3_ENST00000354608.5_INTRON|||||||||||||||||||||||||615|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL158087|NM_198718.1|NP_942011.1|HGNC:9595|prostaglandin_%20_E_%20_receptor_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"prostaglandin_%20_E_%20_receptor_%20_3_%20_(subtype_%20_EP3)"|EP3||1p31.1|2016-10-05||2015-11-16|X83863||5733|ENSG00000050628|7759114_%2C__%20_9073510|NM_000957|207|Prostaglandin_%20_receptors|CCDS652_%2C__%20_CCDS655_%2C__%20_CCDS656_%2C__%20_CCDS657_%2C__%20_CCDS658_%2C__%20_CCDS44160|OTTHUMG00000009399|5733|176806|NM_001126044|P43115|ENSG00000050628|uc001dfo.4|PE2R3_HUMAN|Bimatoprost(DB00905)_%7C_Dinoprostone(DB00917)_%7C_Misoprostol(DB00929)|B0AZN4_%7C_B1AK19_%7C_B5BUP5_%7C_O00326_%7C_Q12943_%7C_Q12944_%7C_Q12945_%7C_Q16546_%7C_Q5CZ59_%7C_Q5CZ61_%7C_Q5CZ62_%7C_Q5CZ63_%7C_Q5CZ64|P43115|cell_%20_death_%20_(GO:0008219)_%7C_G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)_%7C_intracellular_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030522)_%7C_positive_%20_regulation_%20_of_%20_fever_%20_generation_%20_(GO:0031622)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-activated_%20_sequence-specific_%20_DNA_%20_binding_%20_RNA_%20_polymerase_%20_II_%20_transcription_%20_factor_%20_activity_%20_(GO:0004879)_%7C_prostaglandin_%20_E_%20_receptor_%20_activity_%20_(GO:0004957)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 74663709 rs11806946 G A . PASS FUNCOTATION=[LRRIQ3|hg19|chr1|74663709|74663709|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:74663709G>A|ENST00000370911.3|-|1|||||0.5635910224438903|GCCCTTATGAGTTGGAGACAA|LRRIQ3_ENST00000370909.2_FIVE_PRIME_UTR/LRRIQ3_ENST00000354431.4_FIVE_PRIME_UTR/TNNI3K_ENST00000370891.2_FIVE_PRIME_FLANK/FPGT-TNNI3K_ENST00000370893.1_FIVE_PRIME_FLANK/FPGT_ENST00000370894.5_FIVE_PRIME_FLANK/FPGT-TNNI3K_ENST00000370895.1_FIVE_PRIME_FLANK/FPGT_ENST00000370898.3_FIVE_PRIME_FLANK/FPGT-TNNI3K_ENST00000370899.3_FIVE_PRIME_FLANK/FPGT_ENST00000467578.2_FIVE_PRIME_FLANK/FPGT_ENST00000482102.2_FIVE_PRIME_FLANK/FPGT_ENST00000534056.1_FIVE_PRIME_FLANK/FPGT-TNNI3K_ENST00000557284.2_FIVE_PRIME_FLANK/FPGT_ENST00000609362.1_FIVE_PRIME_FLANK/FPGT_ENST00000524915.1_FIVE_PRIME_FLANK/FPGT-TNNI3K_ENST00000533006.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(4)_%7C_pancreas(22)|||||||CH471059|||HGNC:28318|leucine_%20_rich_%20_repeats_%20_and_%20_IQ_%20_motif_%20_containing_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|LRRC44|"leucine_%20_rich_%20_repeat_%20_containing_%20_44"|MGC22773||1p31.1|2016-06-03|2008-06-12|2016-06-03|BX647210||127255|ENSG00000162620|12477932|NM_145258|||CCDS41350|OTTHUMG00000009508|127255||NM_001105659|A6PVS8|ENSG00000162620|uc001dfy.5|LRIQ3_HUMAN||A6PVS9_%7C_Q6P5P7_%7C_Q6ZMV4_%7C_Q8WUE0|A6PVS8|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 74737317 indel.4219 TGGAGC T . PASS FUNCOTATION=[FPGT-TNNI3K|hg19|chr1|74737318|74737322|FRAME_SHIFT_DEL||DEL|GGAGC|GGAGC|-|g.chr1:74737318_74737322delGGAGC|ENST00000370899.3|+|7|709_713|c.673_677delGGAGC|c.(673-678)ggagctfs|p.G225fs|0.3950617283950617|GCTTCACAGTGGAGCTGATATACAG|TNNI3K_ENST00000326637.3_FRAME_SHIFT_DEL_p.G124fs/FPGT-TNNI3K_ENST00000557284.2_FRAME_SHIFT_DEL_p.G238fs/FPGT-TNNI3K_ENST00000370895.1_FRAME_SHIFT_DEL_p.G225fs/TNNI3K_ENST00000370891.2_FRAME_SHIFT_DEL_p.G225fs|||||||||||||||||||||||||||||||||BX470253|NM_001199327.1|NP_001186256.2|HGNC:42952|FPGT-TNNI3K_%20_readthrough|Approved|readthrough|other|||||1p31.1|2016-10-05|||||100526835|ENSG00000259030|||403|Ankyrin_%20_repeat_%20_domain_%20_containing||OTTHUMG00000166281|100526835||NM_001112808||ENSG00000259030|uc001dge.4|||||||||||true|false||false|false|||false|false|false|TNNI3K:51086_%7C_FPGT-TNNI3K:100526835|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|761357894|74737318|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs761357894|] -chr1 74835230 indel.4234 CAG C . PASS FUNCOTATION=[FPGT-TNNI3K|hg19|chr1|74835231|74835232|FRAME_SHIFT_DEL||DEL|AG|AG|-|g.chr1:74835231_74835232delAG|ENST00000370899.3|+|18|1968_1969|c.1932_1933delAG|c.(1930-1935)tcagggfs|p.G646fs|0.43034825870646765|AATACATATCAGGGGGTTCTCT|TNNI3K_ENST00000326637.3_FRAME_SHIFT_DEL_p.G545fs/FPGT-TNNI3K_ENST00000557284.2_FRAME_SHIFT_DEL_p.G659fs/FPGT-TNNI3K_ENST00000370895.1_FRAME_SHIFT_DEL_p.G646fs/TNNI3K_ENST00000370891.2_FRAME_SHIFT_DEL_p.G646fs/RP11-439H8.4_ENST00000415549.2_RNA|||||||||||||||||||||||||||||||||BX470253|NM_001199327.1|NP_001186256.2|HGNC:42952|FPGT-TNNI3K_%20_readthrough|Approved|readthrough|other|||||1p31.1|2016-10-05|||||100526835|ENSG00000259030|||403|Ankyrin_%20_repeat_%20_domain_%20_containing||OTTHUMG00000166281|100526835||NM_001112808||ENSG00000259030|uc001dge.4|||||||||||true|false||false|false|||false|false|false|TNNI3K:51086_%7C_FPGT-TNNI3K:100526835|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|748927643|74835231|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs748927643|] -chr1 75036872 indel.4252 CT C . PASS FUNCOTATION=[C1orf173|hg19|chr1|75036873|75036873|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:75036873delT|ENST00000326665.5|-|14|4741|c.4521delA|c.(4519-4521)cgafs|p.E1508fs|0.5336658354114713|GTTGCTTCTCTCGGGTTTCAG|C1orf173_ENST00000433746.2_INTRON|||||||||||||||||||||||||223|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(8)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(124)|||||||CR749349|NM_001002912.4|NP_001002912.4||||||||||||||||||||||||||||||ERIC3_HUMAN||Q68DL8_%7C_Q6GMR8_%7C_Q6ZSF9_%7C_Q8ND41|Q5RHP9|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 75038572 var_1_75038572 TC T . PASS FUNCOTATION=[C1orf173|hg19|chr1|75038573|75038573|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:75038573delC|ENST00000326665.5|-|14|3041|c.2821delG|c.(2821-2823)gatfs|p.D941fs|0.5336658354114713|TCTCCGACATCACTCACAGCC|C1orf173_ENST00000433746.2_INTRON|||||||||||||||||||||||||223|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(8)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(124)|||||||CR749349|NM_001002912.4|NP_001002912.4||||||||||||||||||||||||||||||ERIC3_HUMAN||Q68DL8_%7C_Q6GMR8_%7C_Q6ZSF9_%7C_Q8ND41|Q5RHP9|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 75198740 kgp9120456 A C . PASS FUNCOTATION=[CRYZ|hg19|chr1|75198740|75198740|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:75198740A>C|ENST00000417775.1|-|1|||||0.5311720698254364|TCCACCCAGGATGTGCGCCTC|CRYZ_ENST00000340866.5_FIVE_PRIME_FLANK/TYW3_ENST00000370867.3_FIVE_PRIME_FLANK/CRYZ_ENST00000370871.3_FIVE_PRIME_FLANK/CRYZ_ENST00000370872.3_FIVE_PRIME_FLANK/TYW3_ENST00000421739.2_FIVE_PRIME_FLANK/TYW3_ENST00000457880.2_FIVE_PRIME_FLANK/TYW3_ENST00000479111.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||L31526|NM_001130042.1|NP_001123514.1|HGNC:2419|crystallin_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"crystallin_%2C__%20_zeta_%20_(quinone_%20_reductase)"|||1p31.1|2015-11-12||2015-11-12|||1429|ENSG00000116791|||||CCDS665_%2C__%20_CCDS44162_%2C__%20_CCDS44163|OTTHUMG00000009620|1429|123691|NM_001130042|Q08257|ENSG00000116791|uc001dgk.4|QOR_HUMAN|Dicoumarol(DB00266)|A6NN60_%7C_D3DQ76_%7C_Q53FT0_%7C_Q59EU7_%7C_Q5HYE7_%7C_Q6NSK9|Q08257|protein_%20_homotetramerization_%20_(GO:0051289)_%7C_visual_%20_perception_%20_(GO:0007601)_%7C_xenobiotic_%20_catabolic_%20_process_%20_(GO:0042178)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)|mRNA_%20_3'-UTR_%20_binding_%20_(GO:0003730)_%7C_NADPH_%20_binding_%20_(GO:0070402)_%7C_NADPH:quinone_%20_reductase_%20_activity_%20_(GO:0003960)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 75198788 kgp15455600 C A . PASS FUNCOTATION=[CRYZ|hg19|chr1|75198788|75198788|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:75198788C>A|ENST00000417775.1|-|1|||||0.5336658354114713|CACCCCTAGGCGAAGGCACTA|CRYZ_ENST00000340866.5_FIVE_PRIME_FLANK/TYW3_ENST00000370867.3_FIVE_PRIME_FLANK/CRYZ_ENST00000370871.3_FIVE_PRIME_FLANK/CRYZ_ENST00000370872.3_FIVE_PRIME_FLANK/TYW3_ENST00000421739.2_FIVE_PRIME_FLANK/TYW3_ENST00000457880.2_FIVE_PRIME_FLANK/TYW3_ENST00000479111.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||L31526|NM_001130042.1|NP_001123514.1|HGNC:2419|crystallin_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"crystallin_%2C__%20_zeta_%20_(quinone_%20_reductase)"|||1p31.1|2015-11-12||2015-11-12|||1429|ENSG00000116791|||||CCDS665_%2C__%20_CCDS44162_%2C__%20_CCDS44163|OTTHUMG00000009620|1429|123691|NM_001130042|Q08257|ENSG00000116791|uc001dgk.4|QOR_HUMAN|Dicoumarol(DB00266)|A6NN60_%7C_D3DQ76_%7C_Q53FT0_%7C_Q59EU7_%7C_Q5HYE7_%7C_Q6NSK9|Q08257|protein_%20_homotetramerization_%20_(GO:0051289)_%7C_visual_%20_perception_%20_(GO:0007601)_%7C_xenobiotic_%20_catabolic_%20_process_%20_(GO:0042178)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)|mRNA_%20_3'-UTR_%20_binding_%20_(GO:0003730)_%7C_NADPH_%20_binding_%20_(GO:0070402)_%7C_NADPH:quinone_%20_reductase_%20_activity_%20_(GO:0003960)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 76200513 indel.4306 AG A . PASS FUNCOTATION=[ACADM|hg19|chr1|76200514|76200514|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:76200514delG|ENST00000370834.5|+|7|603|c.525delG|c.(523-525)aagfs|p.K176fs|0.32418952618453867|ATCAACAAAAGAAGAAGTATT|ACADM_ENST00000420607.2_FRAME_SHIFT_DEL_p.K147fs/ACADM_ENST00000370841.4_FRAME_SHIFT_DEL_p.K143fs/ACADM_ENST00000541113.1_FRAME_SHIFT_DEL_p.K107fs/ACADM_ENST00000543667.1_INTRON|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471059|NM_001286043.1|NP_001272973.1|HGNC:89|acyl-CoA_%20_dehydrogenase_%20_medium_%20_chain|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"acyl-Coenzyme_%20_A_%20_dehydrogenase_%2C__%20_C-4_%20_to_%20_C-12_%20_straight_%20_chain"|MCAD_%2C__%20_MCADH_%2C__%20_ACAD1|"medium-chain_%20_acyl-CoA_%20_dehydrogenase"|1p31.1|2017-09-21||2017-09-21|M16827|1.3.8.7|34|ENSG00000117054|3035565||974|Acyl-CoA_%20_dehydrogenase_%20_family|CCDS668_%2C__%20_CCDS44165_%2C__%20_CCDS65562_%2C__%20_CCDS72807|OTTHUMG00000009784|34|607008|NM_000016|P11310|ENSG00000117054|uc001dgw.6|ACADM_HUMAN|Flavin_%20_adenine_%20_dinucleotide(DB03147)|Q5T4U4_%7C_Q9NYF1|P11310|cardiac_%20_muscle_%20_cell_%20_differentiation_%20_(GO:0055007)_%7C_carnitine_%20_biosynthetic_%20_process_%20_(GO:0045329)_%7C_carnitine_%20_metabolic_%20_process_%2C__%20_CoA-linked_%20_(GO:0019254)_%7C_cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_fatty_%20_acid_%20_beta-oxidation_%20_(GO:0006635)_%7C_fatty_%20_acid_%20_beta-oxidation_%20_using_%20_acyl-CoA_%20_dehydrogenase_%20_(GO:0033539)_%7C_glycogen_%20_biosynthetic_%20_process_%20_(GO:0005978)_%7C_liver_%20_development_%20_(GO:0001889)_%7C_medium-chain_%20_fatty_%20_acid_%20_catabolic_%20_process_%20_(GO:0051793)_%7C_medium-chain_%20_fatty_%20_acid_%20_metabolic_%20_process_%20_(GO:0051791)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_post-embryonic_%20_development_%20_(GO:0009791)_%7C_regulation_%20_of_%20_gluconeogenesis_%20_(GO:0006111)_%7C_response_%20_to_%20_cold_%20_(GO:0009409)_%7C_response_%20_to_%20_starvation_%20_(GO:0042594)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|axon_%20_(GO:0030424)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|acyl-CoA_%20_dehydrogenase_%20_activity_%20_(GO:0003995)_%7C_flavin_%20_adenine_%20_dinucleotide_%20_binding_%20_(GO:0050660)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_medium-chain-acyl-CoA_%20_dehydrogenase_%20_activity_%20_(GO:0070991)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 76226844 indel.4318 TG T . PASS FUNCOTATION=[ACADM|hg19|chr1|76226845|76226845|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:76226845delG|ENST00000370834.5|+|12|1161|c.1083delG|c.(1081-1083)atgfs|p.M361fs|0.3940149625935162|AAATGGCAATGAAAGTTGAAC|ACADM_ENST00000420607.2_FRAME_SHIFT_DEL_p.M332fs/ACADM_ENST00000370841.4_FRAME_SHIFT_DEL_p.M328fs/ACADM_ENST00000541113.1_FRAME_SHIFT_DEL_p.M292fs/ACADM_ENST00000543667.1_FRAME_SHIFT_DEL_p.M139fs/ACADM_ENST00000481374.1_INTRON|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471059|NM_001286043.1|NP_001272973.1|HGNC:89|acyl-CoA_%20_dehydrogenase_%20_medium_%20_chain|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"acyl-Coenzyme_%20_A_%20_dehydrogenase_%2C__%20_C-4_%20_to_%20_C-12_%20_straight_%20_chain"|MCAD_%2C__%20_MCADH_%2C__%20_ACAD1|"medium-chain_%20_acyl-CoA_%20_dehydrogenase"|1p31.1|2017-09-21||2017-09-21|M16827|1.3.8.7|34|ENSG00000117054|3035565||974|Acyl-CoA_%20_dehydrogenase_%20_family|CCDS668_%2C__%20_CCDS44165_%2C__%20_CCDS65562_%2C__%20_CCDS72807|OTTHUMG00000009784|34|607008|NM_000016|P11310|ENSG00000117054|uc001dgw.6|ACADM_HUMAN|Flavin_%20_adenine_%20_dinucleotide(DB03147)|Q5T4U4_%7C_Q9NYF1|P11310|cardiac_%20_muscle_%20_cell_%20_differentiation_%20_(GO:0055007)_%7C_carnitine_%20_biosynthetic_%20_process_%20_(GO:0045329)_%7C_carnitine_%20_metabolic_%20_process_%2C__%20_CoA-linked_%20_(GO:0019254)_%7C_cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_fatty_%20_acid_%20_beta-oxidation_%20_(GO:0006635)_%7C_fatty_%20_acid_%20_beta-oxidation_%20_using_%20_acyl-CoA_%20_dehydrogenase_%20_(GO:0033539)_%7C_glycogen_%20_biosynthetic_%20_process_%20_(GO:0005978)_%7C_liver_%20_development_%20_(GO:0001889)_%7C_medium-chain_%20_fatty_%20_acid_%20_catabolic_%20_process_%20_(GO:0051793)_%7C_medium-chain_%20_fatty_%20_acid_%20_metabolic_%20_process_%20_(GO:0051791)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_post-embryonic_%20_development_%20_(GO:0009791)_%7C_regulation_%20_of_%20_gluconeogenesis_%20_(GO:0006111)_%7C_response_%20_to_%20_cold_%20_(GO:0009409)_%7C_response_%20_to_%20_starvation_%20_(GO:0042594)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|axon_%20_(GO:0030424)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|acyl-CoA_%20_dehydrogenase_%20_activity_%20_(GO:0003995)_%7C_flavin_%20_adenine_%20_dinucleotide_%20_binding_%20_(GO:0050660)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_medium-chain-acyl-CoA_%20_dehydrogenase_%20_activity_%20_(GO:0070991)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 76255706 indel.4325 CA C . PASS FUNCOTATION=[RABGGTB|hg19|chr1|76255707|76255707|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:76255707delA|ENST00000319942.3|+|4|450|c.380delA|c.(379-381)cagfs|p.Q127fs|0.3516209476309227|AAAGGTCTACAGAAAGAAGAT|RABGGTB_ENST00000370826.3_FRAME_SHIFT_DEL_p.Q127fs/RABGGTB_ENST00000535300.1_FIVE_PRIME_UTR/RABGGTB_ENST00000496055.1_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||Y08201|NM_004582.3|NP_004573.2|HGNC:9796|Rab_%20_geranylgeranyltransferase_%20_beta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p31.1|2016-10-05||2016-01-20|U49245||5876|ENSG00000137955|8706741_%2C__%20_8954794|NM_004582|||CCDS669|OTTHUMG00000009786|5876|179080|NM_004582|P53611|ENSG00000137955|uc001dgy.3|PGTB2_HUMAN||Q92697|P53611|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)_%7C_protein_%20_geranylgeranylation_%20_(GO:0018344)_%7C_visual_%20_perception_%20_(GO:0007601)|Rab-protein_%20_geranylgeranyltransferase_%20_complex_%20_(GO:0005968)|Rab_%20_geranylgeranyltransferase_%20_activity_%20_(GO:0004663)_%7C_Rab_%20_GTPase_%20_binding_%20_(GO:0017137)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 76260335 exm69323 G C . PASS FUNCOTATION=[RABGGTB|hg19|chr1|76260335|76260335|NONSTOP||SNP|G|G|C|g.chr1:76260335G>C|ENST00000319942.3|+|9|1067|c.996G>C|c.(994-996)taG>taC|p.*332Y|0.286783042394015|TAGTGAGCTAGATTCATTGAA|RABGGTB_ENST00000535300.1_NONSTOP_p.*158Y/MSH4_ENST00000263187.3_FIVE_PRIME_FLANK/RABGGTB_ENST00000496055.1_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||Y08201|NM_004582.3|NP_004573.2|HGNC:9796|Rab_%20_geranylgeranyltransferase_%20_beta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p31.1|2016-10-05||2016-01-20|U49245||5876|ENSG00000137955|8706741_%2C__%20_8954794|NM_004582|||CCDS669|OTTHUMG00000009786|5876|179080|NM_004582|P53611|ENSG00000137955|uc001dgy.3|PGTB2_HUMAN||Q92697|P53611|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)_%7C_protein_%20_geranylgeranylation_%20_(GO:0018344)_%7C_visual_%20_perception_%20_(GO:0007601)|Rab-protein_%20_geranylgeranyltransferase_%20_complex_%20_(GO:0005968)|Rab_%20_geranylgeranyltransferase_%20_activity_%20_(GO:0004663)_%7C_Rab_%20_GTPase_%20_binding_%20_(GO:0017137)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 76349331 indel.4337 AG A . PASS FUNCOTATION=[MSH4|hg19|chr1|76349332|76349332|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:76349332delG|ENST00000263187.3|+|15|2036|c.1933delG|c.(1933-1935)gcafs|p.A645fs|0.30673316708229426|TGATACTTTAGCAATCAAACA||||||||||||||||||||||||||876|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(261)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|"MutS_%20_homologs_%20_specialized_%20_for_%20_meiosis_%20_MSH4_%20_|_%20_MSH5"|1p31.1||||U89293|NM_002440.3|NP_002431.2|HGNC:7327|mutS_%20_homolog_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"mutS_%20_(E._%20_coli)_%20_homolog_%20_4"_%2C__%20_"mutS_%20_homolog_%20_4_%20_(E._%20_coli)"|||1p31.1|2016-10-05||2013-09-12|U89293||4438|ENSG00000057468|9299235|NM_002440|1026|MutS_%20_homologs|CCDS670|OTTHUMG00000009788|4438|602105|NM_002440|O15457|ENSG00000057468|uc001dhd.3|MSH4_HUMAN||Q5T4U6_%7C_Q8NEB3_%7C_Q9UNP8|O15457|ATP_%20_catabolic_%20_process_%20_(GO:0006200)_%7C_chiasma_%20_assembly_%20_(GO:0051026)_%7C_female_%20_gamete_%20_generation_%20_(GO:0007292)_%7C_homologous_%20_chromosome_%20_segregation_%20_(GO:0045143)_%7C_mismatch_%20_repair_%20_(GO:0006298)_%7C_ovarian_%20_follicle_%20_development_%20_(GO:0001541)_%7C_reciprocal_%20_meiotic_%20_recombination_%20_(GO:0007131)_%7C_spermatogenesis_%20_(GO:0007283)|nucleus_%20_(GO:0005634)_%7C_synaptonemal_%20_complex_%20_(GO:0000795)|ATP_%20_binding_%20_(GO:0005524)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_DNA-dependent_%20_ATPase_%20_activity_%20_(GO:0008094)_%7C_mismatched_%20_DNA_%20_binding_%20_(GO:0030983)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 76397779 indel.4348 TA T . PASS FUNCOTATION=[ASB17|hg19|chr1|76397780|76397780|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:76397780delA|ENST00000284142.6|-|1|338|c.197delT|c.(196-198)ctafs|p.L66fs|0.3740648379052369|ATCTGTGAGTAGTGCGTCAAA||||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471059|NM_080868.2|NP_543144.1|HGNC:19769|ankyrin_%20_repeat_%20_and_%20_SOCS_%20_box_%20_containing_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ankyrin_%20_repeat_%20_and_%20_SOCS_%20_box-containing_%20_17"|||1p31.1|2016-10-05||2011-01-25|AF403035||127247|ENSG00000154007|12076535|NM_080868|403|Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS671|OTTHUMG00000009787|127247||NM_080868|Q8WXJ9|ENSG00000154007|uc001dhe.2|ASB17_HUMAN||B1APB8_%7C_Q8N0X5|Q8WXJ9|intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 78207409 exm69937 C T . PASS FUNCOTATION=[USP33|hg19|chr1|78207409|78207409|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:78207409C>T|ENST00000370794.3|-|2|||||0.2743142144638404|TCCTGTTTCCCAAGACTTTCA|USP33_ENST00000370793.1_MISSENSE_p.G23R/USP33_ENST00000370792.3_MISSENSE_p.G23R/USP33_ENST00000357428.1_MISSENSE_p.G23R/USP33_ENST00000528150.1_INTRON|Melanoma(152_%3B_72_%20_1870_%20_11110_%20_26780_%20_42647)||||||||||||||||||||||||617|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(137)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||BC016663|NM_201624.2|NP_963918.1|HGNC:20059|ubiquitin_%20_specific_%20_peptidase_%20_33|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ubiquitin_%20_specific_%20_protease_%20_33"|KIAA1097_%2C__%20_VDU1||1p31.1|2016-10-05||2005-08-08|AF383173||23032|ENSG00000077254|12838346|NM_015017|366|Ubiquitin_%20_specific_%20_peptidases|CCDS678_%2C__%20_CCDS679_%2C__%20_CCDS680|OTTHUMG00000009651|23032|615146|NM_015017|Q8TEY7|ENSG00000077254|uc001dhu.5|UBP33_HUMAN||Q8TEY6_%7C_Q96AV6_%7C_Q9H9F0_%7C_Q9UPQ5|Q8TEY7|axon_%20_guidance_%20_(GO:0007411)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_centrosome_%20_duplication_%20_(GO:0051298)_%7C_endocytosis_%20_(GO:0006897)_%7C_protein_%20_deubiquitination_%20_(GO:0016579)_%7C_protein_%20_K48-linked_%20_deubiquitination_%20_(GO:0071108)_%7C_protein_%20_K63-linked_%20_deubiquitination_%20_(GO:0070536)_%7C_regulation_%20_of_%20_G-protein_%20_coupled_%20_receptor_%20_protein_%20_signaling_%20_pathway_%20_(GO:0008277)_%7C_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0006511)|cell_%20_body_%20_(GO:0044297)_%7C_centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_VCB_%20_complex_%20_(GO:0030891)|cysteine-type_%20_endopeptidase_%20_activity_%20_(GO:0004197)_%7C_G-protein_%20_coupled_%20_receptor_%20_binding_%20_(GO:0001664)_%7C_ubiquitin_%20_thiolesterase_%20_activity_%20_(GO:0004221)_%7C_ubiquitin-specific_%20_protease_%20_activity_%20_(GO:0004843)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 78245342 exm69939 T G . PASS FUNCOTATION=[FAM73A|hg19|chr1|78245342|78245342|START_CODON_SNP||SNP|T|T|G|g.chr1:78245342T>G|ENST00000370791.3|+|1|34|c.2T>G|c.(1-3)aTg>aGg|p.M1R|0.6059850374064838|GCCTTCTCCATGTCAGACTGC|FAM73A_ENST00000443751.2_START_CODON_SNP_p.M1R/RNA5SP21_ENST00000410917.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BX641170|NM_198549.3|NP_940951.1||||||||||||||||||||||||||||||FA73A_HUMAN||Q6MZG0|Q8NAN2||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 78392430 indel.4380 AG A . PASS FUNCOTATION=[NEXN|hg19|chr1|78392431|78392431|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:78392431delG|ENST00000334785.7|+|8|901|c.718delG|c.(718-720)gaafs|p.E240fs|0.33665835411471323|AGCAAAAAAAGAATCACTTTC|NEXN_ENST00000330010.8_FRAME_SHIFT_DEL_p.E176fs/NEXN_ENST00000457030.1_FRAME_SHIFT_DEL_p.E226fs/NEXN_ENST00000480732.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||S67069|NM_144573.3|NP_653174.3|HGNC:29557|nexilin_%20_F-actin_%20_binding_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nexilin_%20_(F_%20_actin_%20_binding_%20_protein)"|nexilin_%2C__%20_NELIN||1p31.1|2017-03-24||2016-03-30|AK057954||91624|ENSG00000162614|12053183_%2C__%20_8227983|NM_144573|593|I-set_%20_domain_%20_containing|CCDS41351_%2C__%20_CCDS53335|OTTHUMG00000040533|91624|613121|NM_001172309|Q0ZGT2|ENSG00000162614|uc001dic.5|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 78546379 indel.4391 CA C . PASS FUNCOTATION=[GIPC2|hg19|chr1|78546380|78546380|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:78546380delA|ENST00000370759.3|+|2|454|c.262delA|c.(262-264)acafs|p.T88fs|0.32418952618453867|CACTTTAAACACACCTAAAAT|GIPC2_ENST00000476882.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC036075|NM_017655.4|NP_060125.4|HGNC:18177|GIPC_%20_PDZ_%20_domain_%20_containing_%20_family_%20_member_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"GIPC_%20_PDZ_%20_domain_%20_containing_%20_family_%2C__%20_member_%20_2"|FLJ20075_%2C__%20_SEMCAP-2|"semaphorin_%20_cytoplasmic_%20_domain_%20_associated_%20_protein_%20_2"|1p31.1|2015-11-18||2015-11-18|AB073737||54810|ENSG00000137960|11836570|NM_017655|1220|PDZ_%20_domain_%20_containing|CCDS685|OTTHUMG00000041145|54810||NM_001304725|Q8TF65|ENSG00000137960|uc001dik.4|GIPC2_HUMAN||Q8IYD3_%7C_Q9NXS7|Q8TF65||cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 82302600 rs12064537 T C . PASS FUNCOTATION=[LPHN2|hg19|chr1|82302600|82302600|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:82302600T>C|ENST00000370728.1|+|5|||||0.341645885286783|GACTGATGGTTTTGATGAAGC|LPHN2_ENST00000370730.1_FIVE_PRIME_UTR/LPHN2_ENST00000370715.1_FIVE_PRIME_UTR/LPHN2_ENST00000319517.6_FIVE_PRIME_UTR/LPHN2_ENST00000370713.1_FIVE_PRIME_UTR/LPHN2_ENST00000370725.1_FIVE_PRIME_UTR/LPHN2_ENST00000370723.1_FIVE_PRIME_UTR/LPHN2_ENST00000370727.1_FIVE_PRIME_UTR/LPHN2_ENST00000370721.1_FIVE_PRIME_UTR/LPHN2_ENST00000359929.3_FIVE_PRIME_UTR/LPHN2_ENST00000370717.2_FIVE_PRIME_UTR/LPHN2_ENST00000394879.1_FIVE_PRIME_UTR/LPHN2_ENST00000271029.4_FIVE_PRIME_UTR/LPHN2_ENST00000335786.5_FIVE_PRIME_UTR/LPHN2_ENST00000469377.2_INTRON|||||||||||||||||||||||||763|biliary_tract(2)_%7C_breast(186)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(157)_%7C_large_intestine(12)_%7C_lung(134)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_skin(82)|||||||DQ925675||||||||||||||||||||||||||||||||LPHN2_HUMAN||A5XEI2_%7C_B1ALT8_%7C_B1ALT9_%7C_B1ALU0_%7C_B1ALU2_%7C_B1ALU4_%7C_B1ALU5_%7C_B1ALU6_%7C_O94882_%7C_Q5VX76_%7C_Q9UKY5_%7C_Q9UKY6|O95490|G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)_%7C_neuropeptide_%20_signaling_%20_pathway_%20_(GO:0007218)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|carbohydrate_%20_binding_%20_(GO:0030246)_%7C_G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_latrotoxin_%20_receptor_%20_activity_%20_(GO:0016524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 84768912 exm70876 C T . PASS FUNCOTATION=[SAMD13|hg19|chr1|84768912|84768912|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:84768912C>T|ENST00000370668.3|+|2|||||0.4139650872817955|ACCCTGCAGCCTTCCCATGCT|SAMD13_ENST00000370669.1_FIVE_PRIME_UTR/SAMD13_ENST00000394834.3_FIVE_PRIME_UTR/SAMD13_ENST00000370670.2_FIVE_PRIME_UTR/SAMD13_ENST00000370673.3_MISSENSE_p.L13F/SAMD13_ENST00000370671.3_MISSENSE_p.L19F|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||DB459148|NM_001134664.1|NP_001128136.1|HGNC:24582|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_13|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p31.1|2015-09-02|||||148418|ENSG00000203943||NM_001010971|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS30760_%2C__%20_CCDS44166|OTTHUMG00000009859|148418||NM_001010971|Q5VXD3|ENSG00000203943|uc001djr.3|SAM13_HUMAN||B3KPW8_%7C_D3DT11_%7C_Q53AI4_%7C_Q5VXD2_%7C_Q5VXD4|Q5VXD3|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 85020683 exm71046 C G . PASS FUNCOTATION=[CTBS|hg19|chr1|85020683|85020683|NONSTOP||SNP|C|C|G|g.chr1:85020683C>G|ENST00000370630.5|-|7|1206|c.1157G>C|c.(1156-1158)tGa>tCa|p.*386S|0.3541147132169576|AAAAGATGTTCATCTCTGTAA|CTBS_ENST00000477677.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M95767|NM_004388.2|NP_004379.1|HGNC:2496|chitobiase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CTB|"chitobiase_%2C__%20_di-N-acetyl-"|||1p22.3|2016-10-05||2016-02-29|M95767|3.2.1.-|1486|ENSG00000117151|1549114_%2C__%20_7606925|NM_004388|816|Chitinases|CCDS698|OTTHUMG00000009922|1486|600873|NM_004388|Q01459|ENSG00000117151|uc001dka.3|DIAC_HUMAN||Q5VX50|Q01459|chitin_%20_catabolic_%20_process_%20_(GO:0006032)_%7C_oligosaccharide_%20_catabolic_%20_process_%20_(GO:0009313)|extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_lysosome_%20_(GO:0005764)|chitinase_%20_activity_%20_(GO:0004568)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 86841963 indel.4587 G GT . PASS FUNCOTATION=[ODF2L|hg19|chr1|86841963|86841964|FRAME_SHIFT_INS||INS|-|-|T|g.chr1:86841963_86841964insT|ENST00000370566.3|-|8|1130|c.762_763insA|c.(763-765)catfs|p.H255fs|0.2775|CTGTAAAATGGTCAAGCCTT|ODF2L_ENST00000359242.3_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000294678.2_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000317336.7_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000370567.1_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000394731.1_FRAME_SHIFT_INS_p.H124fs/ODF2L_ENST00000524695.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR591511|NM_001184766.1|NP_001171695.1|HGNC:29225|outer_%20_dense_%20_fiber_%20_of_%20_sperm_%20_tails_%20_2_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"outer_%20_dense_%20_fiber_%20_of_%20_sperm_%20_tails_%20_2-like"|KIAA1229||1p22.3|2016-04-25||2016-02-23|||57489|ENSG00000122417|10574462||||CCDS30763_%2C__%20_CCDS41354_%2C__%20_CCDS53339|OTTHUMG00000010080|57489||NM_001007022|Q9ULJ1|ENSG00000122417|uc001dlm.3|ODF2L_HUMAN||A8MU56_%7C_B4E037_%7C_Q05C40_%7C_Q5BJG5_%7C_Q5TBX3_%7C_Q5TBX4_%7C_Q86X31|Q9ULJ1||centrosome_%20_(GO:0005813)|||||true|false||false|false|||false|false|false|ODF2L:57489|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|867604743|86841963|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|147|rs867604743|] -chr1 89530860 rs17130722 A G . PASS FUNCOTATION=[GBP1|hg19|chr1|89530860|89530860|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:89530860A>G|ENST00000370473.4|-|1|||||0.40648379052369077|TTTTCTCCTTAGTTCACGAGC||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M55542|NM_002053.2|NP_002044.2|HGNC:4182|guanylate_%20_binding_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"guanylate_%20_binding_%20_protein_%20_1_%2C__%20_interferon-inducible_%2C__%20_67kDa"_%2C__%20_"guanylate_%20_binding_%20_protein_%20_1_%2C__%20_interferon-inducible"|||1p22.2|2016-01-21||2016-01-21|BC002666||2633|ENSG00000117228|7518790|NM_002053|||CCDS718|OTTHUMG00000010614|2633|600411|NM_002053|P32455|ENSG00000117228|uc001dmx.3|GBP1_HUMAN||D3DT26_%7C_Q5T8M1|P32455|cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_defense_%20_response_%20_to_%20_virus_%20_(GO:0051607)_%7C_interferon-gamma-mediated_%20_signaling_%20_pathway_%20_(GO:0060333)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_membrane_%20_(GO:0016020)|GTP_%20_binding_%20_(GO:0005525)_%7C_GTPase_%20_activity_%20_(GO:0003924)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 92729242 indel.4840 A AG . PASS FUNCOTATION=[GLMN|hg19|chr1|92729242|92729243|FRAME_SHIFT_INS||INS|-|-|G|g.chr1:92729242_92729243insG|ENST00000370360.3|-|15|1429|c.1346_1347insC|c.(1345-1347)cttfs|p.L450fs|0.325|CAAATCAAGAAGGGAAATCA|GLMN_ENST00000534881.1_FRAME_SHIFT_INS_p.L436fs|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)||||Multiple_%20_Glomus_%20_Tumors_%20_(of_%20_the_%20_Skin)_%2C__%20_Familial|Multiple_%20_Familial_%20_Glomangiomas_%2C__%20_Hereditary_%20_Multiple_%20_Glomus_%20_Tumors_%2C__%20_Familial_%20_Multiple_%20_Glomangiomatosis_%2C__%20_Inherited_%20_Cutaneous_%20_Venous_%20_Anomalies_%2C__%20_incl._%20_Familial_%20_Multiple_%20_Glomangiomyoma|Familial_%20_Cancer_%20_Database|U73704|NM_053274.2|NP_444504.1|HGNC:14373|glomulin_%2C__%20_FKBP_%20_associated_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|VMGLOM|"venous_%20_malformation_%20_with_%20_glomus_%20_cells"|FAP48_%2C__%20_GLML_%2C__%20_GVM_%2C__%20_FKBPAP||1p22.1|2014-11-19||2004-07-01|U73704||11146|ENSG00000174842|8955134|NM_007070|||CCDS738|OTTHUMG00000010283|11146|601749|NM_001319683|Q92990|ENSG00000174842|uc001dor.4|GLMN_HUMAN||Q5VVC3_%7C_Q9BVE8|Q92990|muscle_%20_cell_%20_differentiation_%20_(GO:0042692)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_T_%20_cell_%20_proliferation_%20_(GO:0042130)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_positive_%20_regulation_%20_of_%20_cytokine_%20_secretion_%20_(GO:0050715)_%7C_positive_%20_regulation_%20_of_%20_interleukin-2_%20_biosynthetic_%20_process_%20_(GO:0045086)_%7C_positive_%20_regulation_%20_of_%20_phosphorylation_%20_(GO:0042327)_%7C_regulation_%20_of_%20_gene_%20_expression_%2C__%20_epigenetic_%20_(GO:0040029)_%7C_regulation_%20_of_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0032434)_%7C_vasculogenesis_%20_(GO:0001570)|Cul2-RING_%20_ubiquitin_%20_ligase_%20_complex_%20_(GO:0031462)_%7C_Cul3-RING_%20_ubiquitin_%20_ligase_%20_complex_%20_(GO:0031463)_%7C_Cul4A-RING_%20_E3_%20_ubiquitin_%20_ligase_%20_complex_%20_(GO:0031464)_%7C_cullin-RING_%20_ubiquitin_%20_ligase_%20_complex_%20_(GO:0031461)_%7C_intracellular_%20_(GO:0005622)|hepatocyte_%20_growth_%20_factor_%20_receptor_%20_binding_%20_(GO:0005171)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_ubiquitin-protein_%20_transferase_%20_inhibitor_%20_activity_%20_(GO:0055105)||||true|false||false|false|||false|false|false|GLMN:11146|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|763357116|92729242|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs763357116|] -chr1 93645613 var_1_93645613 G A . PASS FUNCOTATION=[CCDC18|hg19|chr1|93645613|93645613|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:93645613G>A|ENST00000343253.7|+|1|||||0.6483790523690773|GCACTTACTTGGTACTCGATC|TMED5_ENST00000370282.3_NONSENSE_p.Q63*/TMED5_ENST00000479918.1_NONSENSE_p.Q63*/TMED5_ENST00000370280.1_NONSENSE_p.Q63*/CCDC18_ENST00000334652.5_FIVE_PRIME_FLANK/CCDC18_ENST00000338949.4_FIVE_PRIME_FLANK/CCDC18_ENST00000401026.3_FIVE_PRIME_FLANK/CCDC18_ENST00000557479.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||137|biliary_tract(2)_%7C_breast(33)_%7C_central_nervous_system(44)_%7C_large_intestine(35)_%7C_lung(1)_%7C_pancreas(22)|||||||AL139421|||HGNC:30370|coiled-coil_%20_domain_%20_containing_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||NY-SAR-41||1p22.1|2015-08-26|||||343099|ENSG00000122483|12601173|NM_206886|||CCDS76180|OTTHUMG00000010598|343099||NM_001306076|Q5T9S5|ENSG00000122483|uc057iix.1|CCD18_HUMAN||Q6ZU17|Q5T9S5|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 94344716 rs2235971 C T . PASS FUNCOTATION=[DNTTIP2|hg19|chr1|94344716|94344716|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:94344716C>T|ENST00000436063.2|-|1|||||0.6059850374064838|TTTCCGGCTCCCTCGCGACCA|DNTTIP2_ENST00000460191.1_INTRON|||||||||||||||||||||||||1|breast(1)|||||||U15552|NM_014597.4|NP_055412.2|HGNC:24013|deoxynucleotidyltransferase_%20_terminal_%20_interacting_%20_protein_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"deoxynucleotidyltransferase_%2C__%20_terminal_%2C__%20_interacting_%20_protein_%20_2"|HSU15552_%2C__%20_ERBP_%2C__%20_TdIF2|"acidic_%20_82_%20_kDa_%20_protein_%20_mRNA"|1p22.1|2016-04-05||2016-04-05|AY394925||30836|ENSG00000067334|15047147|NM_014597|||CCDS44174|OTTHUMG00000010268|30836|611199|NM_014597|Q5QJE6|ENSG00000067334|uc001dqf.4|TDIF2_HUMAN||Q12987_%7C_Q53H59_%7C_Q5TFJ4_%7C_Q6TLI0_%7C_Q76MJ8_%7C_Q86WX9|Q5QJE6|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 94697167 exm76553 T C . PASS FUNCOTATION=[ARHGAP29|hg19|chr1|94697167|94697167|START_CODON_SNP||SNP|T|T|C|g.chr1:94697167T>C|ENST00000260526.6|-|2|184|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.3541147132169576|TGAGCAATCATCCTTTCATGT|ARHGAP29_ENST00000370217.3_START_CODON_SNP_p.M1V|||||||||||||||||||||||||251|biliary_tract(2)_%7C_breast(49)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(2)_%7C_oesophagus(3)_%7C_pancreas(22)|||||||U90920|NM_004815.3|NP_004806.3|HGNC:30207|Rho_%20_GTPase_%20_activating_%20_protein_%20_29|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||PARG1||1p22.1|2014-11-18|||||9411|ENSG00000137962|9305890|NM_004815|721|Rho_%20_GTPase_%20_activating_%20_proteins|CCDS748|OTTHUMG00000010643|9411|610496|NM_004815|Q52LW3|ENSG00000137962|uc001dqj.5|RHG29_HUMAN||O15463_%7C_Q59H86_%7C_Q5VYZ0_%7C_Q6NVX2_%7C_Q8TBI6|Q52LW3|positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_Rho_%20_protein_%20_signal_%20_transduction_%20_(GO:0007266)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cytosol_%20_(GO:0005829)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_PDZ_%20_domain_%20_binding_%20_(GO:0030165)_%7C_Rho_%20_GTPase_%20_activator_%20_activity_%20_(GO:0005100)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 100174455 exm1689665 T C . PASS FUNCOTATION=[FRRS1|hg19|chr1|100174455|100174455|NONSTOP||SNP|T|T|C|g.chr1:100174455T>C|ENST00000287474.5|-|17|2482|c.1880A>G|c.(1879-1881)tAg>tGg|p.*627W|0.36159600997506236|AGAATTCCTCTACAGACATGA|FRRS1_ENST00000414213.1_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471097|NM_001013660.2|NP_001013682.2|HGNC:27622|ferric_%20_chelate_%20_reductase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SDFR2|"stromal_%20_cell_%20_derived_%20_factor_%20_receptor_%20_2_%20_homolog_%20_(mouse)"_%2C__%20_"ferric-chelate_%20_reductase_%20_1"|SDR2||1p21.2|2016-10-05|2006-02-22|2016-01-21|AK131302||391059|ENSG00000156869||NM_001013660|||CCDS30780|OTTHUMG00000010768|391059|611578|NM_001013660|Q6ZNA5|ENSG00000156869|uc001dsh.1|FRRS1_HUMAN||A6NLN7|Q6ZNA5||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|ferric-chelate_%20_reductase_%20_activity_%20_(GO:0000293)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 101354386 newrs77649301 T C . PASS FUNCOTATION=[EXTL2|hg19|chr1|101354386|101354386|DE_NOVO_START_IN_FRAME||SNP|T|T|C|g.chr1:101354386T>C|ENST00000370113.3|-|2|||||0.30423940149625933|CACTTGTCACTATTAAGATAA|EXTL2_ENST00000370114.3_SPLICE_SITE/EXTL2_ENST00000535414.1_SPLICE_SITE/EXTL2_ENST00000480774.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U76189|NM_001439.3|NP_001430.1|HGNC:3516|exostosin_%20_like_%20_glycosyltransferase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"exostoses_%20_(multiple)-like_%20_2"||"alpha-1_%2C_4-N-acteylhexosaminyltransferase"|1p21.2|2016-10-05||2016-06-01|U76189|2.4.1.223|2135|ENSG00000162694|9450183_%2C__%20_15831490|NM_001439|431|Exostosin_%20_glycosyltransferase_%20_family|CCDS775_%2C__%20_CCDS72831|OTTHUMG00000011814|2135|602411|NM_001033025|Q9UBQ6|ENSG00000162694|uc001dtl.3|EXTL2_HUMAN||B2R795_%7C_D3DT60|Q9UBQ6|heparan_%20_sulfate_%20_proteoglycan_%20_biosynthetic_%20_process_%20_(GO:0015012)_%7C_N-acetylglucosamine_%20_metabolic_%20_process_%20_(GO:0006044)_%7C_UDP-N-acetylgalactosamine_%20_metabolic_%20_process_%20_(GO:0019276)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intrinsic_%20_component_%20_of_%20_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0031227)|alpha-1_%2C_4-N-acetylgalactosaminyltransferase_%20_activity_%20_(GO:0035248)_%7C_glucuronyl-galactosyl-proteoglycan_%20_4-alpha-N-acetylglucosaminyltransferase_%20_activity_%20_(GO:0001888)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 101361178 rs17123491 C T . PASS FUNCOTATION=[EXTL2|hg19|chr1|101361178|101361178|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:101361178C>T|ENST00000370114.3|-|1|||||0.5361596009975063|GGAATGGATTCCTAAGATTTG|SLC30A7_ENST00000357650.4_FIVE_PRIME_FLANK/SLC30A7_ENST00000370112.4_FIVE_PRIME_FLANK/EXTL2_ENST00000370113.3_FIVE_PRIME_FLANK/EXTL2_ENST00000535414.1_FIVE_PRIME_FLANK/EXTL2_ENST00000480774.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U76189|NM_001261440.1|NP_001248371.1|HGNC:3516|exostosin_%20_like_%20_glycosyltransferase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"exostoses_%20_(multiple)-like_%20_2"||"alpha-1_%2C_4-N-acteylhexosaminyltransferase"|1p21.2|2016-10-05||2016-06-01|U76189|2.4.1.223|2135|ENSG00000162694|9450183_%2C__%20_15831490|NM_001439|431|Exostosin_%20_glycosyltransferase_%20_family|CCDS775_%2C__%20_CCDS72831|OTTHUMG00000011814|2135|602411|NM_001033025|Q9UBQ6|ENSG00000162694|uc001dtl.3|EXTL2_HUMAN||B2R795_%7C_D3DT60|Q9UBQ6|heparan_%20_sulfate_%20_proteoglycan_%20_biosynthetic_%20_process_%20_(GO:0015012)_%7C_N-acetylglucosamine_%20_metabolic_%20_process_%20_(GO:0006044)_%7C_UDP-N-acetylgalactosamine_%20_metabolic_%20_process_%20_(GO:0019276)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intrinsic_%20_component_%20_of_%20_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0031227)|alpha-1_%2C_4-N-acetylgalactosaminyltransferase_%20_activity_%20_(GO:0035248)_%7C_glucuronyl-galactosyl-proteoglycan_%20_4-alpha-N-acetylglucosaminyltransferase_%20_activity_%20_(GO:0001888)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 109289353 rs1124427 C G . PASS FUNCOTATION=[STXBP3|hg19|chr1|109289353|109289353|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:109289353C>G|ENST00000370008.3|+|1|||||0.6658354114713217|TCCGCAGTGTCGGGAAGATGG||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||D63506|NM_007269.2|NP_009200.2|HGNC:11446|syntaxin_%20_binding_%20_protein_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||UNC-18C||1p13.3|2014-11-19|||D63506||6814|ENSG00000116266|10194441|NM_007269|||CCDS790|OTTHUMG00000011122|6814|608339|NM_007269|O00186|ENSG00000116266|uc001dvy.4|STXB3_HUMAN||A8K269_%7C_A8K5K7_%7C_Q53FW1_%7C_Q86YJ3_%7C_Q9UPD7|O00186|blood_%20_coagulation_%20_(GO:0007596)_%7C_membrane_%20_organization_%20_(GO:0061024)_%7C_negative_%20_regulation_%20_of_%20_calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0045955)_%7C_neutrophil_%20_degranulation_%20_(GO:0043312)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_platelet_%20_aggregation_%20_(GO:0070527)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_transport_%20_(GO:0015031)_%7C_vesicle_%20_docking_%20_involved_%20_in_%20_exocytosis_%20_(GO:0006904)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_basolateral_%20_plasma_%20_membrane_%20_(GO:0016323)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_platelet_%20_alpha_%20_granule_%20_(GO:0031091)_%7C_specific_%20_granule_%20_(GO:0042581)_%7C_tertiary_%20_granule_%20_(GO:0070820)|syntaxin_%20_binding_%20_(GO:0019905)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 109633256 rs521734 C G . PASS FUNCOTATION=[TMEM167B|hg19|chr1|109633256|109633256|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:109633256C>G|ENST00000338272.8|+|1|||||0.571072319201995|CGGCCAAGTACGAAGCCTTCG|RP5-1065J22.8_ENST00000608574.1_RNA/TMEM167B_ENST00000473828.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||46|biliary_tract(2)_%7C_central_nervous_system(22)_%7C_pancreas(22)|||||||CH471122|NM_020141.3|NP_064526.1|HGNC:30187|transmembrane_%20_protein_%20_167B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf119|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_119"|AD-020_%2C__%20_FLJ90710||1p13.3|2014-11-19|2008-06-06|2008-06-06|||56900|ENSG00000215717|12477932|NM_020141|||CCDS30789|OTTHUMG00000042364|56900||NM_001322248|Q9NRX6|ENSG00000215717|uc001dwn.4|KISHB_HUMAN||B2RUU9|Q9NRX6||Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 110198727 kgp3155172 C G . PASS FUNCOTATION=[GSTM4|hg19|chr1|110198727|110198727|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:110198727C>G|ENST00000369836.4|+|1|||||0.6508728179551122|CCTCCTAGTGCTTCCGGACCT|GSTM4_ENST00000336075.5_FIVE_PRIME_UTR/GSTM4_ENST00000326729.5_FIVE_PRIME_FLANK/GSTM4_ENST00000369833.1_FIVE_PRIME_FLANK/GSTM4_ENST00000495742.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||44|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)|||||||X68677|NM_000850.4|NP_000841.1|HGNC:4636|glutathione_%20_S-transferase_%20_mu_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"glutathione_%20_S-transferase_%20_M4"|||1p13.3|2015-09-11||2008-11-26|M96234|2.5.1.18|2948|ENSG00000168765|8276420|NM_000850|567|Soluble_%20_glutathione_%20_S-transferases|CCDS806_%2C__%20_CCDS807|OTTHUMG00000011642|2948|138333|NM_000850|Q03013|ENSG00000168765|uc001dyf.4|GSTM4_HUMAN|Glutathione(DB00143)|A8K765_%7C_Q05465_%7C_Q32NC1_%7C_Q4JNT8_%7C_Q6FH87|Q03013|glutathione_%20_derivative_%20_biosynthetic_%20_process_%20_(GO:1901687)_%7C_glutathione_%20_metabolic_%20_process_%20_(GO:0006749)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_catabolic_%20_process_%20_(GO:0042178)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)|enzyme_%20_binding_%20_(GO:0019899)_%7C_glutathione_%20_binding_%20_(GO:0043295)_%7C_glutathione_%20_transferase_%20_activity_%20_(GO:0004364)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 110198788 kgp25277353 T C . PASS FUNCOTATION=[GSTM4|hg19|chr1|110198788|110198788|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:110198788T>C|ENST00000369836.4|+|1|||||0.6583541147132169|TTCCAGCCAGTGAGGATCCAG|GSTM4_ENST00000326729.5_FIVE_PRIME_UTR/GSTM4_ENST00000336075.5_FIVE_PRIME_UTR/GSTM4_ENST00000369833.1_FIVE_PRIME_FLANK/GSTM4_ENST00000495742.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||44|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)|||||||X68677|NM_000850.4|NP_000841.1|HGNC:4636|glutathione_%20_S-transferase_%20_mu_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"glutathione_%20_S-transferase_%20_M4"|||1p13.3|2015-09-11||2008-11-26|M96234|2.5.1.18|2948|ENSG00000168765|8276420|NM_000850|567|Soluble_%20_glutathione_%20_S-transferases|CCDS806_%2C__%20_CCDS807|OTTHUMG00000011642|2948|138333|NM_000850|Q03013|ENSG00000168765|uc001dyf.4|GSTM4_HUMAN|Glutathione(DB00143)|A8K765_%7C_Q05465_%7C_Q32NC1_%7C_Q4JNT8_%7C_Q6FH87|Q03013|glutathione_%20_derivative_%20_biosynthetic_%20_process_%20_(GO:1901687)_%7C_glutathione_%20_metabolic_%20_process_%20_(GO:0006749)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_catabolic_%20_process_%20_(GO:0042178)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)|enzyme_%20_binding_%20_(GO:0019899)_%7C_glutathione_%20_binding_%20_(GO:0043295)_%7C_glutathione_%20_transferase_%20_activity_%20_(GO:0004364)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 110210671 rs625456 G T . PASS FUNCOTATION=[GSTM2|hg19|chr1|110210671|110210671|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:110210671G>T|ENST00000369831.2|+|1|||||0.6783042394014963|ACCCTCTCTGGGCCTCTCACA|GSTM2_ENST00000442650.1_FIVE_PRIME_UTR/GSTM2_ENST00000369827.3_FIVE_PRIME_UTR/GSTM2_ENST00000241337.4_FIVE_PRIME_FLANK/GSTM2_ENST00000369829.2_FIVE_PRIME_FLANK/GSTM2_ENST00000414179.2_FIVE_PRIME_FLANK/GSTM2_ENST00000460717.3_FIVE_PRIME_FLANK/GSTM2_ENST00000464206.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X56838|||HGNC:4634|glutathione_%20_S-transferase_%20_mu_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"glutathione_%20_S-transferase_%20_M2_%20_(muscle)"_%2C__%20_"glutathione_%20_S-transferase_%20_mu_%20_2_%20_(muscle)"|GST4||1p13.3|2016-06-27||2016-06-27|M63509|2.5.1.18|2946|ENSG00000213366|2034681_%2C__%20_2345169|NM_000848|567|Soluble_%20_glutathione_%20_S-transferases|CCDS808_%2C__%20_CCDS44192|OTTHUMG00000011638|2946|138380|NM_000848|P28161|ENSG00000213366|uc001dyj.4|GSTM2_HUMAN|Glutathione(DB00143)|B4DRY4_%7C_E9PEM9_%7C_Q2M318_%7C_Q5TZY5_%7C_Q8WWE1|P28161|cellular_%20_detoxification_%20_of_%20_nitrogen_%20_compound_%20_(GO:0070458)_%7C_cellular_%20_response_%20_to_%20_caffeine_%20_(GO:0071313)_%7C_glutathione_%20_derivative_%20_biosynthetic_%20_process_%20_(GO:1901687)_%7C_glutathione_%20_metabolic_%20_process_%20_(GO:0006749)_%7C_negative_%20_regulation_%20_of_%20_ryanodine-sensitive_%20_calcium-release_%20_channel_%20_activity_%20_(GO:0060315)_%7C_nitrobenzene_%20_metabolic_%20_process_%20_(GO:0018916)_%7C_positive_%20_regulation_%20_of_%20_ryanodine-sensitive_%20_calcium-release_%20_channel_%20_activity_%20_(GO:0060316)_%7C_regulation_%20_of_%20_cardiac_%20_muscle_%20_contraction_%20_by_%20_regulation_%20_of_%20_the_%20_release_%20_of_%20_sequestered_%20_calcium_%20_ion_%20_(GO:0010881)_%7C_regulation_%20_of_%20_release_%20_of_%20_sequestered_%20_calcium_%20_ion_%20_into_%20_cytosol_%20_by_%20_sarcoplasmic_%20_reticulum_%20_(GO:0010880)_%7C_regulation_%20_of_%20_skeletal_%20_muscle_%20_contraction_%20_by_%20_regulation_%20_of_%20_release_%20_of_%20_sequestered_%20_calcium_%20_ion_%20_(GO:0014809)_%7C_relaxation_%20_of_%20_cardiac_%20_muscle_%20_(GO:0055119)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_catabolic_%20_process_%20_(GO:0042178)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_sarcoplasmic_%20_reticulum_%20_(GO:0016529)|enzyme_%20_binding_%20_(GO:0019899)_%7C_glutathione_%20_binding_%20_(GO:0043295)_%7C_glutathione_%20_transferase_%20_activity_%20_(GO:0004364)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_receptor_%20_binding_%20_(GO:0005102)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 110210740 exm1692076 G A . PASS FUNCOTATION=[GSTM2|hg19|chr1|110210740|110210740|START_CODON_SNP||SNP|G|G|A|g.chr1:110210740G>A|ENST00000241337.4|+|1|53|c.3G>A|c.(1-3)atG>atA|p.M1I|0.6932668329177057|CCAGCACCATGCCCATGACAC|GSTM2_ENST00000369831.2_START_CODON_SNP_p.M1I/GSTM2_ENST00000442650.1_START_CODON_SNP_p.M1I/GSTM2_ENST00000460717.3_START_CODON_SNP_p.M1I/GSTM2_ENST00000369829.2_START_CODON_SNP_p.M1I/GSTM2_ENST00000414179.2_FIVE_PRIME_UTR/GSTM2_ENST00000369827.3_FIVE_PRIME_UTR/GSTM2_ENST00000464206.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X56838|NM_000848.3|NP_000839.1|HGNC:4634|glutathione_%20_S-transferase_%20_mu_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"glutathione_%20_S-transferase_%20_M2_%20_(muscle)"_%2C__%20_"glutathione_%20_S-transferase_%20_mu_%20_2_%20_(muscle)"|GST4||1p13.3|2016-06-27||2016-06-27|M63509|2.5.1.18|2946|ENSG00000213366|2034681_%2C__%20_2345169|NM_000848|567|Soluble_%20_glutathione_%20_S-transferases|CCDS808_%2C__%20_CCDS44192|OTTHUMG00000011638|2946|138380|NM_000848|P28161|ENSG00000213366|uc001dyj.4|GSTM2_HUMAN|Glutathione(DB00143)|B4DRY4_%7C_E9PEM9_%7C_Q2M318_%7C_Q5TZY5_%7C_Q8WWE1|P28161|cellular_%20_detoxification_%20_of_%20_nitrogen_%20_compound_%20_(GO:0070458)_%7C_cellular_%20_response_%20_to_%20_caffeine_%20_(GO:0071313)_%7C_glutathione_%20_derivative_%20_biosynthetic_%20_process_%20_(GO:1901687)_%7C_glutathione_%20_metabolic_%20_process_%20_(GO:0006749)_%7C_negative_%20_regulation_%20_of_%20_ryanodine-sensitive_%20_calcium-release_%20_channel_%20_activity_%20_(GO:0060315)_%7C_nitrobenzene_%20_metabolic_%20_process_%20_(GO:0018916)_%7C_positive_%20_regulation_%20_of_%20_ryanodine-sensitive_%20_calcium-release_%20_channel_%20_activity_%20_(GO:0060316)_%7C_regulation_%20_of_%20_cardiac_%20_muscle_%20_contraction_%20_by_%20_regulation_%20_of_%20_the_%20_release_%20_of_%20_sequestered_%20_calcium_%20_ion_%20_(GO:0010881)_%7C_regulation_%20_of_%20_release_%20_of_%20_sequestered_%20_calcium_%20_ion_%20_into_%20_cytosol_%20_by_%20_sarcoplasmic_%20_reticulum_%20_(GO:0010880)_%7C_regulation_%20_of_%20_skeletal_%20_muscle_%20_contraction_%20_by_%20_regulation_%20_of_%20_release_%20_of_%20_sequestered_%20_calcium_%20_ion_%20_(GO:0014809)_%7C_relaxation_%20_of_%20_cardiac_%20_muscle_%20_(GO:0055119)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_catabolic_%20_process_%20_(GO:0042178)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_sarcoplasmic_%20_reticulum_%20_(GO:0016529)|enzyme_%20_binding_%20_(GO:0019899)_%7C_glutathione_%20_binding_%20_(GO:0043295)_%7C_glutathione_%20_transferase_%20_activity_%20_(GO:0004364)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_receptor_%20_binding_%20_(GO:0005102)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 110255320 var_1_110255320 T C . PASS FUNCOTATION=[GSTM5|hg19|chr1|110255320|110255320|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:110255320T>C|ENST00000369813.1|+|2|||||0.628428927680798|GGGACGGTAATGGCACCCTCG|GSTM5_ENST00000256593.3_INTRON/GSTM5_ENST00000369812.5_INTRON/GSTM5_ENST00000492718.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||134|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(61)_%7C_large_intestine(11)_%7C_oesophagus(2)_%7C_pancreas(22)_%7C_soft_tissue(25)|||||||CH471122|||HGNC:4637|glutathione_%20_S-transferase_%20_mu_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"glutathione_%20_S-transferase_%20_M5"|||1p13.3|2014-11-19||2008-11-26|L02321|2.5.1.18|2949|ENSG00000134201|8473333|NM_000851|567|Soluble_%20_glutathione_%20_S-transferases|CCDS811|OTTHUMG00000011644|2949|138385|NM_000851|P46439|ENSG00000134201|uc001dyn.4|GSTM5_HUMAN|Glutathione(DB00143)|A8K0V8_%7C_Q6PD78|P46439|glutathione_%20_derivative_%20_biosynthetic_%20_process_%20_(GO:1901687)_%7C_glutathione_%20_metabolic_%20_process_%20_(GO:0006749)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|cytosol_%20_(GO:0005829)|glutathione_%20_transferase_%20_activity_%20_(GO:0004364)||||true|false||false|false|||false|false|false|GSTM5:2949|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|868017653|110255320|false|false|0|false|0|false||false|false|false|SNV|false|0x0500000a0005000402000100|1|false|147|rs868017653|] -chr1 110282909 exm1692490 T C . PASS FUNCOTATION=[GSTM3|hg19|chr1|110282909|110282909|START_CODON_SNP||SNP|T|T|C|g.chr1:110282909T>C|ENST00000540225.1|-|2|312|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6708229426433915|TCGCACGACATGGTGACGGGC|GSTM3_ENST00000361066.2_START_CODON_SNP_p.M1V/GSTM3_ENST00000256594.3_START_CODON_SNP_p.M1V/RP4-735C1.4_ENST00000431955.1_RNA/GSTM3_ENST00000488824.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||J05459|||HGNC:4635|glutathione_%20_S-transferase_%20_mu_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"glutathione_%20_S-transferase_%20_M3_%20_(brain)"_%2C__%20_"glutathione_%20_S-transferase_%20_mu_%20_3_%20_(brain)"|GST5||1p13.3|2016-06-27||2016-06-27|BC000088|2.5.1.18|2947|ENSG00000134202|2345169|NM_000849|567|Soluble_%20_glutathione_%20_S-transferases|CCDS812|OTTHUMG00000011640|2947|138390|NM_000849|P21266|ENSG00000134202|uc057jbx.1|GSTM3_HUMAN|Glutathione(DB00143)_%7C_Vitamin_%20_E(DB00163)|O60550_%7C_Q96HA3|P21266|cellular_%20_detoxification_%20_of_%20_nitrogen_%20_compound_%20_(GO:0070458)_%7C_establishment_%20_of_%20_blood-nerve_%20_barrier_%20_(GO:0008065)_%7C_glutathione_%20_derivative_%20_biosynthetic_%20_process_%20_(GO:1901687)_%7C_glutathione_%20_metabolic_%20_process_%20_(GO:0006749)_%7C_nitrobenzene_%20_metabolic_%20_process_%20_(GO:0018916)_%7C_response_%20_to_%20_estrogen_%20_(GO:0043627)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_catabolic_%20_process_%20_(GO:0042178)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleus_%20_(GO:0005634)_%7C_sperm_%20_fibrous_%20_sheath_%20_(GO:0035686)|enzyme_%20_binding_%20_(GO:0019899)_%7C_glutathione_%20_binding_%20_(GO:0043295)_%7C_glutathione_%20_transferase_%20_activity_%20_(GO:0004364)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|GSTM3:2947|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|202171165|110282909|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs202171165|] -chr1 110300600 indel.5498 C CCTGCTGGTTTT . PASS FUNCOTATION=[EPS8L3|hg19|chr1|110300600|110300601|FRAME_SHIFT_INS||INS|-|-|CTGCTGGTTTT|g.chr1:110300600_110300601insCTGCTGGTTTT|ENST00000369805.3|-|9|1031|c.800_801insAAAACCAGCAG|c.(799-801)aagfs|p.K269fs|0.58|AAATTTCTTCTTCCTGCTGG|EPS8L3_ENST00000361965.4_FRAME_SHIFT_INS_p.K268fs/EPS8L3_ENST00000361852.4_FRAME_SHIFT_INS_p.K268fs/RP4-735C1.4_ENST00000431955.1_RNA|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(12)_%7C_lung(1)_%7C_pancreas(22)|||||||BC012926|NM_139053.2|NP_620641.1|HGNC:21297|EPS8_%20_like_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"EPS8-like_%20_3"|FLJ21522_%2C__%20_MGC16817||1p13.3|2016-10-05||2016-01-20|AK025175||79574|ENSG00000198758|12620401|NM_024526|||CCDS813_%2C__%20_CCDS814_%2C__%20_CCDS815|OTTHUMG00000011651|79574|614989|NM_001319952|Q8TE67|ENSG00000198758|uc001dyq.3|ES8L3_HUMAN||A8K833_%7C_Q5T8Q6_%7C_Q5T8Q7_%7C_Q5T8Q8_%7C_Q96E47_%7C_Q9H719|Q8TE67||cytoplasm_%20_(GO:0005737)|||||true|false||false|false|||false|false|false|EPS8L3:79574_%7C_LOC101928585:101928585|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|562835845|110300600|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|DIV|true|0x050000081205040402000200|1|false|142|rs562835845|] -chr1 110950259 exm82881 T C . PASS FUNCOTATION=[LAMTOR5|hg19|chr1|110950259|110950259|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:110950259T>C|ENST00000602318.1|-|1|||||0.6458852867830424|CACCGACCACTCCGGCTCAGA|LAMTOR5_ENST00000256644.4_MISSENSE_p.E77G/LAMTOR5_ENST00000474861.2_FIVE_PRIME_UTR/LAMTOR5_ENST00000483260.1_FIVE_PRIME_UTR/LAMTOR5_ENST00000602858.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590413.1_RNA/LAMTOR5-AS1_ENST00000457535.1_RNA/LAMTOR5-AS1_ENST00000585330.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000587691.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590826.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000598454.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608067.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608253.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608486.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608499.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608602.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609244.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609512.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609653.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609709.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000610148.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CR542130|||HGNC:17955|late_%20_endosomal/lysosomal_%20_adaptor_%2C__%20_MAPK_%20_and_%20_MTOR_%20_activator_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HBXIP|"hepatitis_%20_B_%20_virus_%20_x_%20_interacting_%20_protein"|XIP_%2C__%20_MGC71071|"HBx-interacting_%20_protein"_%2C__%20_"hepatitis_%20_B_%20_virus_%20_x-interacting_%20_protein_%20_(9.6kD)"|1p13.3|2016-10-05|2012-09-24|2012-09-24|AF029890||10542|ENSG00000134248|9499022_%2C__%20_22980980|NM_006402|1040|Ragulator_%20_complex_%20_|CCDS824|OTTHUMG00000011568|10542|608521|NM_006402|O43504|ENSG00000134248|uc057jdz.1|LTOR5_HUMAN||Q6IBD8|O43504|cellular_%20_response_%20_to_%20_amino_%20_acid_%20_stimulus_%20_(GO:0071230)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_(GO:0043154)_%7C_positive_%20_regulation_%20_of_%20_GTPase_%20_activity_%20_(GO:0043547)_%7C_positive_%20_regulation_%20_of_%20_TOR_%20_signaling_%20_(GO:0032008)_%7C_protein_%20_localization_%20_to_%20_lysosome_%20_(GO:0061462)_%7C_regulation_%20_of_%20_cell_%20_size_%20_(GO:0008361)_%7C_response_%20_to_%20_virus_%20_(GO:0009615)_%7C_viral_%20_genome_%20_replication_%20_(GO:0019079)|cytosol_%20_(GO:0005829)_%7C_lysosome_%20_(GO:0005764)_%7C_Ragulator_%20_complex_%20_(GO:0071986)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 110950277 exm82883 G A . PASS FUNCOTATION=[LAMTOR5|hg19|chr1|110950277|110950277|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:110950277G>A|ENST00000602318.1|-|1|||||0.6508728179551122|AGAACCCAGCGGCACGGCACG|LAMTOR5_ENST00000256644.4_MISSENSE_p.P71L/LAMTOR5_ENST00000474861.2_FIVE_PRIME_UTR/LAMTOR5_ENST00000483260.1_FIVE_PRIME_UTR/LAMTOR5_ENST00000602858.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590413.1_RNA/LAMTOR5-AS1_ENST00000457535.1_RNA/LAMTOR5-AS1_ENST00000585330.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000587691.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590826.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000598454.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608067.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608253.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608486.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608499.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608602.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609244.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609512.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609653.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609709.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000610148.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CR542130|||HGNC:17955|late_%20_endosomal/lysosomal_%20_adaptor_%2C__%20_MAPK_%20_and_%20_MTOR_%20_activator_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HBXIP|"hepatitis_%20_B_%20_virus_%20_x_%20_interacting_%20_protein"|XIP_%2C__%20_MGC71071|"HBx-interacting_%20_protein"_%2C__%20_"hepatitis_%20_B_%20_virus_%20_x-interacting_%20_protein_%20_(9.6kD)"|1p13.3|2016-10-05|2012-09-24|2012-09-24|AF029890||10542|ENSG00000134248|9499022_%2C__%20_22980980|NM_006402|1040|Ragulator_%20_complex_%20_|CCDS824|OTTHUMG00000011568|10542|608521|NM_006402|O43504|ENSG00000134248|uc057jdz.1|LTOR5_HUMAN||Q6IBD8|O43504|cellular_%20_response_%20_to_%20_amino_%20_acid_%20_stimulus_%20_(GO:0071230)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_(GO:0043154)_%7C_positive_%20_regulation_%20_of_%20_GTPase_%20_activity_%20_(GO:0043547)_%7C_positive_%20_regulation_%20_of_%20_TOR_%20_signaling_%20_(GO:0032008)_%7C_protein_%20_localization_%20_to_%20_lysosome_%20_(GO:0061462)_%7C_regulation_%20_of_%20_cell_%20_size_%20_(GO:0008361)_%7C_response_%20_to_%20_virus_%20_(GO:0009615)_%7C_viral_%20_genome_%20_replication_%20_(GO:0019079)|cytosol_%20_(GO:0005829)_%7C_lysosome_%20_(GO:0005764)_%7C_Ragulator_%20_complex_%20_(GO:0071986)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 110950295 exm82888 C A . PASS FUNCOTATION=[LAMTOR5|hg19|chr1|110950295|110950295|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:110950295C>A|ENST00000602318.1|-|1|||||0.6458852867830424|ACGTCCTTCTCCACCACAGGC|LAMTOR5_ENST00000256644.4_MISSENSE_p.G65V/LAMTOR5_ENST00000474861.2_FIVE_PRIME_FLANK/LAMTOR5_ENST00000483260.1_FIVE_PRIME_FLANK/LAMTOR5_ENST00000602858.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590413.1_RNA/LAMTOR5-AS1_ENST00000457535.1_RNA/LAMTOR5-AS1_ENST00000585330.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000587691.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590826.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000598454.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608067.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608253.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608486.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608499.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608602.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609244.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609512.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609653.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609709.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000610148.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CR542130|||HGNC:17955|late_%20_endosomal/lysosomal_%20_adaptor_%2C__%20_MAPK_%20_and_%20_MTOR_%20_activator_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HBXIP|"hepatitis_%20_B_%20_virus_%20_x_%20_interacting_%20_protein"|XIP_%2C__%20_MGC71071|"HBx-interacting_%20_protein"_%2C__%20_"hepatitis_%20_B_%20_virus_%20_x-interacting_%20_protein_%20_(9.6kD)"|1p13.3|2016-10-05|2012-09-24|2012-09-24|AF029890||10542|ENSG00000134248|9499022_%2C__%20_22980980|NM_006402|1040|Ragulator_%20_complex_%20_|CCDS824|OTTHUMG00000011568|10542|608521|NM_006402|O43504|ENSG00000134248|uc057jdz.1|LTOR5_HUMAN||Q6IBD8|O43504|cellular_%20_response_%20_to_%20_amino_%20_acid_%20_stimulus_%20_(GO:0071230)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_(GO:0043154)_%7C_positive_%20_regulation_%20_of_%20_GTPase_%20_activity_%20_(GO:0043547)_%7C_positive_%20_regulation_%20_of_%20_TOR_%20_signaling_%20_(GO:0032008)_%7C_protein_%20_localization_%20_to_%20_lysosome_%20_(GO:0061462)_%7C_regulation_%20_of_%20_cell_%20_size_%20_(GO:0008361)_%7C_response_%20_to_%20_virus_%20_(GO:0009615)_%7C_viral_%20_genome_%20_replication_%20_(GO:0019079)|cytosol_%20_(GO:0005829)_%7C_lysosome_%20_(GO:0005764)_%7C_Ragulator_%20_complex_%20_(GO:0071986)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 110950313 exm82890 A G . PASS FUNCOTATION=[LAMTOR5|hg19|chr1|110950313|110950313|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:110950313A>G|ENST00000602318.1|-|1|||||0.6408977556109726|GGCCTCAGTCACTTGACGCGA|LAMTOR5_ENST00000256644.4_MISSENSE_p.V59A/LAMTOR5_ENST00000474861.2_FIVE_PRIME_FLANK/LAMTOR5_ENST00000483260.1_FIVE_PRIME_FLANK/LAMTOR5_ENST00000602858.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590413.1_RNA/LAMTOR5-AS1_ENST00000457535.1_RNA/LAMTOR5-AS1_ENST00000585330.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000587691.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590826.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000598454.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608067.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608253.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608486.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608499.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608602.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609244.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609512.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609653.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609709.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000610148.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CR542130|||HGNC:17955|late_%20_endosomal/lysosomal_%20_adaptor_%2C__%20_MAPK_%20_and_%20_MTOR_%20_activator_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HBXIP|"hepatitis_%20_B_%20_virus_%20_x_%20_interacting_%20_protein"|XIP_%2C__%20_MGC71071|"HBx-interacting_%20_protein"_%2C__%20_"hepatitis_%20_B_%20_virus_%20_x-interacting_%20_protein_%20_(9.6kD)"|1p13.3|2016-10-05|2012-09-24|2012-09-24|AF029890||10542|ENSG00000134248|9499022_%2C__%20_22980980|NM_006402|1040|Ragulator_%20_complex_%20_|CCDS824|OTTHUMG00000011568|10542|608521|NM_006402|O43504|ENSG00000134248|uc057jdz.1|LTOR5_HUMAN||Q6IBD8|O43504|cellular_%20_response_%20_to_%20_amino_%20_acid_%20_stimulus_%20_(GO:0071230)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_(GO:0043154)_%7C_positive_%20_regulation_%20_of_%20_GTPase_%20_activity_%20_(GO:0043547)_%7C_positive_%20_regulation_%20_of_%20_TOR_%20_signaling_%20_(GO:0032008)_%7C_protein_%20_localization_%20_to_%20_lysosome_%20_(GO:0061462)_%7C_regulation_%20_of_%20_cell_%20_size_%20_(GO:0008361)_%7C_response_%20_to_%20_virus_%20_(GO:0009615)_%7C_viral_%20_genome_%20_replication_%20_(GO:0019079)|cytosol_%20_(GO:0005829)_%7C_lysosome_%20_(GO:0005764)_%7C_Ragulator_%20_complex_%20_(GO:0071986)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 111148080 rs3887820 C A . PASS FUNCOTATION=[KCNA2|hg19|chr1|111148080|111148080|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:111148080C>A|ENST00000369770.3|-|2|||||0.5386533665835411|TGAGATGCACCAACAGGCAGC|KCNA2_ENST00000485317.1_FIVE_PRIME_UTR/KCNA2_ENST00000316361.4_FIVE_PRIME_UTR/KCNA2_ENST00000440270.1_FIVE_PRIME_UTR/KCNA2_ENST00000525120.1_INTRON|Pancreas(18_%3B_568_%20_735_%20_10587_%20_23710_%20_36357)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||L02752|NM_001204269.1|NP_001191198.1|HGNC:6220|potassium_%20_voltage-gated_%20_channel_%20_subfamily_%20_A_%20_member_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"potassium_%20_voltage-gated_%20_channel_%2C__%20_shaker-related_%20_subfamily_%2C__%20_member_%20_2"|Kv1.2_%2C__%20_HK4||1p13.3|2016-10-05||2016-02-04|L02752||3737|ENSG00000177301|16382104|NM_004974|274|Potassium_%20_voltage-gated_%20_channels|CCDS827_%2C__%20_CCDS55625|OTTHUMG00000011567|3737|176262|NM_001204269|P16389|ENSG00000177301|uc057jgb.2|KCNA2_HUMAN|Dalfampridine(DB06637)|Q86XG6|P16389|optic_%20_nerve_%20_structural_%20_organization_%20_(GO:0021633)_%7C_potassium_%20_ion_%20_transport_%20_(GO:0006813)_%7C_protein_%20_homooligomerization_%20_(GO:0051260)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|juxtaparanode_%20_region_%20_of_%20_axon_%20_(GO:0044224)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_voltage-gated_%20_potassium_%20_channel_%20_complex_%20_(GO:0008076)|delayed_%20_rectifier_%20_potassium_%20_channel_%20_activity_%20_(GO:0005251)_%7C_outward_%20_rectifier_%20_potassium_%20_channel_%20_activity_%20_(GO:0015271)_%7C_potassium_%20_channel_%20_activity_%20_(GO:0005267)_%7C_voltage-gated_%20_potassium_%20_channel_%20_activity_%20_(GO:0005249)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 111415841 rs1494324 G A . PASS FUNCOTATION=[CD53|hg19|chr1|111415841|111415841|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:111415841G>A|ENST00000271324.5|+|1|||||0.4463840399002494|AAATTCTGCCGAAAGGACTGA|CD53_ENST00000429072.2_FIVE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M60871|NM_001040033.1|NP_001035122.1|HGNC:1686|CD53_%20_molecule|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MOX44|"CD53_%20_antigen"|TSPAN25||1p13.3|2016-10-05||2006-03-28|BC040693||963|ENSG00000143119|8319976|NM_000560|471_%7C_768|CD_%20_molecules_%7C_Tetraspanins|CCDS829|OTTHUMG00000048020|963|151525|NM_000560|P19397|ENSG00000143119|uc001dzx.4|CD53_HUMAN||B2R905_%7C_Q5U0D6|P19397|positive_%20_regulation_%20_of_%20_myoblast_%20_fusion_%20_(GO:1901741)_%7C_signal_%20_transduction_%20_(GO:0007165)|cell_%20_surface_%20_(GO:0009986)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_immunological_%20_synapse_%20_(GO:0001772)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 112042574 exm83930 A G . PASS FUNCOTATION=[ADORA3|hg19|chr1|112042574|112042574|NONSTOP||SNP|A|A|G|g.chr1:112042574A>G|ENST00000241356.4|-|2|1361|c.955T>C|c.(955-957)Tag>Cag|p.*319Q|0.4538653366583541|ATGGATAACTACTCAGAATTC|ADORA3_ENST00000369716.4_INTRON/ADORA3_ENST00000369717.4_INTRON|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||X76981|NM_000677.3|NP_000668.1|HGNC:268|adenosine_%20_A3_%20_receptor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||AD026||1p13.2|2017-03-24|||BC029831||140|ENSG00000282608|7607699|NM_000677_%2C__%20_NM_020683|211_%7C_590|Adenosine_%20_receptors_%7C_V-set_%20_domain_%20_containing|CCDS838_%2C__%20_CCDS839_%2C__%20_CCDS41369_%2C__%20_CCDS81358|OTTHUMG00000011957|140|600445|NM_000677|P0DMS8|ENSG00000282608|uc001ebh.5|AA3R_HUMAN|Adenosine(DB00640)_%7C_Aminophylline(DB01223)_%7C_Enprofylline(DB00824)|A2A3P4_%7C_Q6UWU0_%7C_Q9BYZ1|P33765|activation_%20_of_%20_adenylate_%20_cyclase_%20_activity_%20_(GO:0007190)_%7C_histamine_%20_secretion_%20_by_%20_mast_%20_cell_%20_(GO:0002553)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_positive_%20_regulation_%20_of_%20_calcium-mediated_%20_signaling_%20_(GO:0050850)_%7C_positive_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050729)_%7C_positive_%20_regulation_%20_of_%20_leukocyte_%20_migration_%20_(GO:0002687)_%7C_positive_%20_regulation_%20_of_%20_mast_%20_cell_%20_degranulation_%20_(GO:0043306)_%7C_positive_%20_regulation_%20_of_%20_mucus_%20_secretion_%20_(GO:0070257)_%7C_positive_%20_regulation_%20_of_%20_phosphatidylinositol_%20_3-kinase_%20_signaling_%20_(GO:0014068)_%7C_regulation_%20_of_%20_heart_%20_contraction_%20_(GO:0008016)_%7C_response_%20_to_%20_wounding_%20_(GO:0009611)_%7C_signal_%20_transduction_%20_(GO:0007165)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_mast_%20_cell_%20_granule_%20_(GO:0042629)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_adenosine_%20_receptor_%20_activity_%20_(GO:0001609)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 113010195 exm84380 T G . PASS FUNCOTATION=[WNT2B|hg19|chr1|113010195|113010195|DE_NOVO_START_OUT_FRAME||SNP|T|T|G|g.chr1:113010195T>G|ENST00000256640.5|+|1|||||0.36658354114713215|CCATAAGCATTTTTGGAATTC|WNT2B_ENST00000369686.5_MISSENSE_p.I12M|||||||||||||||||||||||||523|biliary_tract(2)_%7C_breast(186)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(134)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL354760|||HGNC:12781|Wnt_%20_family_%20_member_%20_2B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|WNT13|"wingless-type_%20_MMTV_%20_integration_%20_site_%20_family_%2C__%20_member_%20_2B"|XWNT2|"XWNT2_%2C__%20_Xenopus_%2C__%20_homolog_%20_of"_%2C__%20_"wingless-type_%20_MMTV_%20_integration_%20_site_%20_family_%2C__%20_member_%20_13"|1p13.2|2016-10-05||2016-03-18|AB045116||7482|ENSG00000134245|8761309_%2C__%20_10944466|NM_004185|360|Wnt_%20_family|CCDS847_%2C__%20_CCDS846_%2C__%20_CCDS76188|OTTHUMG00000011157|7482|601968|NM_001291880|Q93097|ENSG00000134245|uc001ecb.4|WNT2B_HUMAN||O14903_%7C_Q5TEH9_%7C_Q5TEI2_%7C_Q9HDC1_%7C_Q9HDC2|Q93097|canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0060070)_%7C_cell_%20_fate_%20_commitment_%20_(GO:0045165)_%7C_cellular_%20_response_%20_to_%20_starvation_%20_(GO:0009267)_%7C_chondrocyte_%20_differentiation_%20_(GO:0002062)_%7C_cornea_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0061303)_%7C_forebrain_%20_regionalization_%20_(GO:0021871)_%7C_hematopoietic_%20_stem_%20_cell_%20_proliferation_%20_(GO:0071425)_%7C_iris_%20_morphogenesis_%20_(GO:0061072)_%7C_lens_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0002088)_%7C_lung_%20_induction_%20_(GO:0060492)_%7C_male_%20_gonad_%20_development_%20_(GO:0008584)_%7C_mesenchymal-epithelial_%20_cell_%20_signaling_%20_(GO:0060638)_%7C_neuron_%20_differentiation_%20_(GO:0030182)_%7C_positive_%20_regulation_%20_of_%20_branching_%20_involved_%20_in_%20_ureteric_%20_bud_%20_morphogenesis_%20_(GO:0090190)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_proteinaceous_%20_extracellular_%20_matrix_%20_(GO:0005578)|frizzled_%20_binding_%20_(GO:0005109)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|WNT2B:7482|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|189656664|113010195|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|true|SNV|true|0x050000400a05040436000100|1|false|135|rs189656664|] -chr1 113248791 rs12144044 C A . PASS FUNCOTATION=[RHOC|hg19|chr1|113248791|113248791|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:113248791C>A|ENST00000285735.2|-|2|||||0.5760598503740648|GACAGTGTGGCTACATCAGAC|RHOC_ENST00000339083.7_INTRON/RHOC_ENST00000369642.3_INTRON/RHOC_ENST00000369633.2_INTRON/RHOC_ENST00000369638.2_INTRON/RHOC_ENST00000369632.2_INTRON/RHOC_ENST00000369637.1_INTRON/RP11-426L16.10_ENST00000606505.1_INTRON/RHOC_ENST00000369636.2_INTRON/RP11-426L16.10_ENST00000471038.2_INTRON|||||||||||||||||||||||||803|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(323)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||X06821|||HGNC:669|ras_%20_homolog_%20_family_%20_member_%20_C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ARH9_%2C__%20_ARHC|"ras_%20_homolog_%20_gene_%20_family_%2C__%20_member_%20_C"|RhoC||1p13.2|2016-10-05|2004-03-24|2012-02-27|BC052808||389|ENSG00000155366|3283705|NM_175744|390|Rho_%20_family_%20_GTPases|CCDS854|OTTHUMG00000011905|389|165380|NM_001042678|P08134|ENSG00000155366|uc001ecr.2|RHOC_HUMAN||B3KSW1_%7C_Q6ICN3|P08134|apical_%20_junction_%20_assembly_%20_(GO:0043297)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_cytokinesis_%20_(GO:0000910)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cleavage_%20_furrow_%20_(GO:0032154)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|GTP_%20_binding_%20_(GO:0005525)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 113498070 kgp6470243 G C . PASS FUNCOTATION=[SLC16A1|hg19|chr1|113498070|113498070|FIVE_PRIME_UTR||SNP|G|G|C|g.chr1:113498070G>C|ENST00000538576.1|-|1|||||0.5785536159600998|GGGCTGCCCCGTCCCCTCCGC|SLC16A1_ENST00000369626.3_INTRON/SLC16A1_ENST00000433570.4_FIVE_PRIME_UTR/SLC16A1_ENST00000478835.1_INTRON/RP11-31F15.1_ENST00000416193.1_FIVE_PRIME_FLANK/RP11-31F15.1_ENST00000420168.1_FIVE_PRIME_FLANK/RP11-31F15.1_ENST00000428411.1_FIVE_PRIME_FLANK/RP11-31F15.1_ENST00000435800.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||L31801|NM_001166496.1|NP_001159968.1|HGNC:10922|solute_%20_carrier_%20_family_%20_16_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_16_%20_(monocarboxylic_%20_acid_%20_transporters)_%2C__%20_member_%20_1"_%2C__%20_"solute_%20_carrier_%20_family_%20_16_%2C__%20_member_%20_1_%20_(monocarboxylic_%20_acid_%20_transporter_%20_1)"_%2C__%20_"solute_%20_carrier_%20_family_%20_16_%20_(monocarboxylate_%20_transporter)_%2C__%20_member_%20_1"|MCT_%2C__%20_MCT1||1p13.2|2016-10-05||2016-02-17|BC026317||6566|ENSG00000155380|8124722_%2C__%20_7835905|NM_003051|752|Solute_%20_carriers|CCDS858|OTTHUMG00000012129|6566|600682|NM_001166496|P53985|ENSG00000155380|uc001ecy.4|MOT1_HUMAN|Acetic_%20_acid(DB03166)_%7C_Aminohippurate(DB00345)_%7C_Ampicillin(DB00415)_%7C_Foscarnet(DB00529)_%7C_Gamma_%20_Hydroxybutyric_%20_Acid(DB01440)_%7C_Methotrexate(DB00563)_%7C_Nateglinide(DB00731)_%7C_Niacin(DB00627)_%7C_Niflumic_%20_Acid(DB04552)_%7C_Pravastatin(DB00175)_%7C_Probenecid(DB01032)_%7C_Pyruvic_%20_acid(DB00119)_%7C_Salicylic_%20_acid(DB00936)_%7C_Valproic_%20_Acid(DB00313)|Q49A45_%7C_Q5T8R6_%7C_Q9NSJ9|P53985|behavioral_%20_response_%20_to_%20_nutrient_%20_(GO:0051780)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_cellular_%20_response_%20_to_%20_organic_%20_cyclic_%20_compound_%20_(GO:0071407)_%7C_centrosome_%20_organization_%20_(GO:0051297)_%7C_glucose_%20_homeostasis_%20_(GO:0042593)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_lipid_%20_metabolic_%20_process_%20_(GO:0006629)_%7C_mevalonate_%20_transport_%20_(GO:0015728)_%7C_monocarboxylic_%20_acid_%20_transport_%20_(GO:0015718)_%7C_plasma_%20_membrane_%20_lactate_%20_transport_%20_(GO:0035879)_%7C_pyruvate_%20_metabolic_%20_process_%20_(GO:0006090)_%7C_regulation_%20_of_%20_insulin_%20_secretion_%20_(GO:0050796)_%7C_response_%20_to_%20_food_%20_(GO:0032094)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|centrosome_%20_(GO:0005813)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrion_%20_(GO:0005739)_%7C_plasma_%20_membrane_%20_(GO:0005886)|mevalonate_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015130)_%7C_monocarboxylic_%20_acid_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0008028)_%7C_organic_%20_cyclic_%20_compound_%20_binding_%20_(GO:0097159)_%7C_secondary_%20_active_%20_monocarboxylate_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015355)_%7C_symporter_%20_activity_%20_(GO:0015293)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 113498283 kgp2705500 A C . PASS FUNCOTATION=[SLC16A1|hg19|chr1|113498283|113498283|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:113498283A>C|ENST00000538576.1|-|1|||||0.6109725685785536|TACCACATGCAGCAGCCTCAT|SLC16A1_ENST00000369626.3_INTRON/SLC16A1_ENST00000433570.4_FIVE_PRIME_UTR/SLC16A1_ENST00000478835.1_INTRON/RP11-31F15.1_ENST00000416193.1_FIVE_PRIME_FLANK/RP11-31F15.1_ENST00000420168.1_FIVE_PRIME_FLANK/RP11-31F15.1_ENST00000428411.1_FIVE_PRIME_FLANK/RP11-31F15.1_ENST00000435800.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||L31801|NM_001166496.1|NP_001159968.1|HGNC:10922|solute_%20_carrier_%20_family_%20_16_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_16_%20_(monocarboxylic_%20_acid_%20_transporters)_%2C__%20_member_%20_1"_%2C__%20_"solute_%20_carrier_%20_family_%20_16_%2C__%20_member_%20_1_%20_(monocarboxylic_%20_acid_%20_transporter_%20_1)"_%2C__%20_"solute_%20_carrier_%20_family_%20_16_%20_(monocarboxylate_%20_transporter)_%2C__%20_member_%20_1"|MCT_%2C__%20_MCT1||1p13.2|2016-10-05||2016-02-17|BC026317||6566|ENSG00000155380|8124722_%2C__%20_7835905|NM_003051|752|Solute_%20_carriers|CCDS858|OTTHUMG00000012129|6566|600682|NM_001166496|P53985|ENSG00000155380|uc001ecy.4|MOT1_HUMAN|Acetic_%20_acid(DB03166)_%7C_Aminohippurate(DB00345)_%7C_Ampicillin(DB00415)_%7C_Foscarnet(DB00529)_%7C_Gamma_%20_Hydroxybutyric_%20_Acid(DB01440)_%7C_Methotrexate(DB00563)_%7C_Nateglinide(DB00731)_%7C_Niacin(DB00627)_%7C_Niflumic_%20_Acid(DB04552)_%7C_Pravastatin(DB00175)_%7C_Probenecid(DB01032)_%7C_Pyruvic_%20_acid(DB00119)_%7C_Salicylic_%20_acid(DB00936)_%7C_Valproic_%20_Acid(DB00313)|Q49A45_%7C_Q5T8R6_%7C_Q9NSJ9|P53985|behavioral_%20_response_%20_to_%20_nutrient_%20_(GO:0051780)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_cellular_%20_response_%20_to_%20_organic_%20_cyclic_%20_compound_%20_(GO:0071407)_%7C_centrosome_%20_organization_%20_(GO:0051297)_%7C_glucose_%20_homeostasis_%20_(GO:0042593)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_lipid_%20_metabolic_%20_process_%20_(GO:0006629)_%7C_mevalonate_%20_transport_%20_(GO:0015728)_%7C_monocarboxylic_%20_acid_%20_transport_%20_(GO:0015718)_%7C_plasma_%20_membrane_%20_lactate_%20_transport_%20_(GO:0035879)_%7C_pyruvate_%20_metabolic_%20_process_%20_(GO:0006090)_%7C_regulation_%20_of_%20_insulin_%20_secretion_%20_(GO:0050796)_%7C_response_%20_to_%20_food_%20_(GO:0032094)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|centrosome_%20_(GO:0005813)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrion_%20_(GO:0005739)_%7C_plasma_%20_membrane_%20_(GO:0005886)|mevalonate_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015130)_%7C_monocarboxylic_%20_acid_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0008028)_%7C_organic_%20_cyclic_%20_compound_%20_binding_%20_(GO:0097159)_%7C_secondary_%20_active_%20_monocarboxylate_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015355)_%7C_symporter_%20_activity_%20_(GO:0015293)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 114447565 exm2230834 G A . PASS FUNCOTATION=[AP4B1|hg19|chr1|114447565|114447565|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:114447565G>A|ENST00000369569.1|-|1|||||0.6309226932668329|AGGCCCTACCGTCGGCCGGCA|AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME/DCLRE1B_ENST00000369563.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369566.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369567.1_FIVE_PRIME_FLANK/DCLRE1B_ENST00000466480.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC014146|NM_001253852.1|NP_001240781.1|HGNC:572|adaptor_%20_related_%20_protein_%20_complex_%20_4_%20_beta_%20_1_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SPG47|"spastic_%20_paraplegia_%20_47"_%2C__%20_"adaptor-related_%20_protein_%20_complex_%20_4_%2C__%20_beta_%20_1_%20_subunit"|BETA-4|"beta_%20_4_%20_subunit_%20_of_%20_AP-4"_%2C__%20_"AP-4_%20_complex_%20_subunit_%20_beta-1"|1p13.2|2016-01-19||2016-01-12|AF092094||10717|ENSG00000134262|10066790|NM_006594|||CCDS865_%2C__%20_CCDS76192|OTTHUMG00000011943|10717|607245|NM_001253852|Q9Y6B7|ENSG00000134262|uc001eed.4|AP4B1_HUMAN||B7Z4X3_%7C_Q59EJ4_%7C_Q96CL6|Q9Y6B7|intracellular_%20_protein_%20_transport_%20_(GO:0006886)_%7C_vesicle-mediated_%20_transport_%20_(GO:0016192)|clathrin_%20_adaptor_%20_complex_%20_(GO:0030131)_%7C_coated_%20_pit_%20_(GO:0005905)_%7C_trans-Golgi_%20_network_%20_(GO:0005802)|protein_%20_transporter_%20_activity_%20_(GO:0008565)_%7C_transporter_%20_activity_%20_(GO:0005215)||||true|false|0.6705_%2C_0.3295|false|false|1||false|true|false|DCLRE1B:64858_%7C_AP4B1:10717|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1217397|114447565|true|false|0|true|0|false|0.586304_%2C_0.413696|false|false|true|SNV|true|0x0501004a000515053f000101|1|false|87|rs1217397|] -chr1 116384580 rs2797208 C T . PASS FUNCOTATION=[NHLH2|hg19|chr1|116384580|116384580|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:116384580C>T|ENST00000369506.1|-|1|||||0.3341645885286783|ACCAGTGTGTCCCAGTACATA|NHLH2_ENST00000320238.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M97508|||HGNC:7818|nescient_%20_helix-loop-helix_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HEN2|"nescient_%20_helix_%20_loop_%20_helix_%20_2"|NSCL2_%2C__%20_bHLHa34||1p13.1|2016-10-05||2015-11-11|||4808|ENSG00000177551|1528853|NM_005599|420|Basic_%20_helix-loop-helix_%20_proteins|CCDS885|OTTHUMG00000011969|4808|162361|NM_001111061|Q02577|ENSG00000177551|uc057jrm.1|HEN2_HUMAN||Q5T1P6|Q02577|cell_%20_differentiation_%20_(GO:0030154)_%7C_central_%20_nervous_%20_system_%20_development_%20_(GO:0007417)_%7C_mating_%20_behavior_%20_(GO:0007617)_%7C_ovulation_%20_cycle_%20_(GO:0042698)_%7C_positive_%20_regulation_%20_of_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0051091)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)|DNA_%20_binding_%20_(GO:0003677)_%7C_RNA_%20_polymerase_%20_II_%20_activating_%20_transcription_%20_factor_%20_binding_%20_(GO:0001102)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 116916056 seq_chr1_116916056 C T . PASS FUNCOTATION=[ATP1A1|hg19|chr1|116916056|116916056|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:116916056C>T|ENST00000295598.5|+|1|||||0.7630922693266833|CCCGCTCGCTCGGCCGGGAGC|AL136376.1_ENST00000598661.1_MISSENSE_p.R59Q/ATP1A1_ENST00000537345.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||1447|adrenal_gland(1356)_%7C_biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X04297|NM_000701.7|NP_000692.2|HGNC:799|ATPase_%20_Na+/K+_%20_transporting_%20_subunit_%20_alpha_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ATPase_%2C__%20_Na+/K+_%20_transporting_%2C__%20_alpha_%20_1_%20_polypeptide"||"sodium/potassium-transporting_%20_ATPase_%20_subunit_%20_alpha-1"_%2C__%20_"sodium_%20_pump_%20_subunit_%20_alpha-1"_%2C__%20_"sodium-potassium_%20_ATPase_%20_catalytic_%20_subunit_%20_alpha-1"|1p13.1|2016-10-05||2016-02-10|D00099|3.6.3.9|476|ENSG00000163399||NM_001160233|1208|ATPase_%20_Na+/K+_%20_transporting_%20_subunits|CCDS887_%2C__%20_CCDS53351_%2C__%20_CCDS53352|OTTHUMG00000012109|476|182310|NM_000701|P05023|ENSG00000163399|uc001ege.5|AT1A1_HUMAN|Acetyldigitoxin(DB00511)_%7C_Almitrine(DB01430)_%7C_Aluminium(DB01370)_%7C_Bepridil(DB01244)_%7C_Bretylium(DB01158)_%7C_Ciclopirox(DB01188)_%7C_Deslanoside(DB01078)_%7C_Diazoxide(DB01119)_%7C_Digitoxin(DB01396)_%7C_Digoxin(DB00390)_%7C_Ethacrynic_%20_acid(DB00903)_%7C_Hydroflumethiazide(DB00774)_%7C_Ouabain(DB01092)_%7C_Trichlormethiazide(DB01021)|B2RBR6_%7C_B7Z2T5_%7C_B7Z3U6_%7C_F5H3A1_%7C_Q16689_%7C_Q6LDM4_%7C_Q9UCN1_%7C_Q9UJ20_%7C_Q9UJ21|P05023|ATP_%20_biosynthetic_%20_process_%20_(GO:0006754)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_cell_%20_communication_%20_by_%20_electrical_%20_coupling_%20_involved_%20_in_%20_cardiac_%20_conduction_%20_(GO:0086064)_%7C_cellular_%20_potassium_%20_ion_%20_homeostasis_%20_(GO:0030007)_%7C_cellular_%20_response_%20_to_%20_mechanical_%20_stimulus_%20_(GO:0071260)_%7C_cellular_%20_response_%20_to_%20_steroid_%20_hormone_%20_stimulus_%20_(GO:0071383)_%7C_cellular_%20_sodium_%20_ion_%20_homeostasis_%20_(GO:0006883)_%7C_ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_membrane_%20_repolarization_%20_(GO:0086009)_%7C_membrane_%20_repolarization_%20_during_%20_cardiac_%20_muscle_%20_cell_%20_action_%20_potential_%20_(GO:0086013)_%7C_negative_%20_regulation_%20_of_%20_glucocorticoid_%20_biosynthetic_%20_process_%20_(GO:0031947)_%7C_negative_%20_regulation_%20_of_%20_heart_%20_contraction_%20_(GO:0045822)_%7C_positive_%20_regulation_%20_of_%20_heart_%20_contraction_%20_(GO:0045823)_%7C_positive_%20_regulation_%20_of_%20_striated_%20_muscle_%20_contraction_%20_(GO:0045989)_%7C_potassium_%20_ion_%20_import_%20_(GO:0010107)_%7C_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_regulation_%20_of_%20_cardiac_%20_muscle_%20_cell_%20_contraction_%20_(GO:0086004)_%7C_regulation_%20_of_%20_sodium_%20_ion_%20_transport_%20_(GO:0002028)_%7C_regulation_%20_of_%20_the_%20_force_%20_of_%20_heart_%20_contraction_%20_(GO:0002026)_%7C_relaxation_%20_of_%20_cardiac_%20_muscle_%20_(GO:0055119)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_sodium_%20_ion_%20_export_%20_from_%20_cell_%20_(GO:0036376)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_basolateral_%20_plasma_%20_membrane_%20_(GO:0016323)_%7C_caveola_%20_(GO:0005901)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_sarcolemma_%20_(GO:0042383)_%7C_sodium:potassium-exchanging_%20_ATPase_%20_complex_%20_(GO:0005890)_%7C_T-tubule_%20_(GO:0030315)_%7C_vesicle_%20_(GO:0031982)|ADP_%20_binding_%20_(GO:0043531)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_chaperone_%20_binding_%20_(GO:0051087)_%7C_phosphatase_%20_activity_%20_(GO:0016791)_%7C_potassium_%20_ion_%20_binding_%20_(GO:0030955)_%7C_sodium_%20_ion_%20_binding_%20_(GO:0031402)_%7C_sodium:potassium-exchanging_%20_ATPase_%20_activity_%20_(GO:0005391)_%7C_steroid_%20_hormone_%20_binding_%20_(GO:1990239)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 120307172 indel.6031 A ATTGGCCTCCAGGGCCA . PASS FUNCOTATION=[HMGCS2|hg19|chr1|120307172|120307173|FRAME_SHIFT_INS||INS|-|-|TTGGCCTCCAGGGCCA|g.chr1:120307172_120307173insTTGGCCTCCAGGGCCA|ENST00000369406.3|-|2|232|c.181_182insTGGCCCTGGAGGCCAA|c.(181-183)gtcfs|p.Y62fs|0.4875|GGGAAGTAGACCTCCAGGGC|HMGCS2_ENST00000544913.2_FRAME_SHIFT_INS_p.Y62fs/HMGCS2_ENST00000476640.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X83618|NM_005518.3|NP_005509.1|HGNC:5008|3-hydroxy-3-methylglutaryl-CoA_%20_synthase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"3-hydroxy-3-methylglutaryl-Coenzyme_%20_A_%20_synthase_%20_2_%20_(mitochondrial)"_%2C__%20_"3-hydroxy-3-methylglutaryl-CoA_%20_synthase_%20_2_%20_(mitochondrial)"|||1p12|2017-03-24||2016-01-21|BC044217|2.3.3.10|3158|ENSG00000134240|7851882_%2C__%20_7893153|NM_005518|||CCDS905_%2C__%20_CCDS53353|OTTHUMG00000012101|3158|600234|NM_001166107|P54868|ENSG00000134240|uc001eid.4|HMCS2_HUMAN||B7Z8R3_%7C_D3Y5K6_%7C_Q5SZU2_%7C_Q6IBF4|P54868|cellular_%20_ketone_%20_body_%20_metabolic_%20_process_%20_(GO:0046950)_%7C_cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_cholesterol_%20_biosynthetic_%20_process_%20_(GO:0006695)_%7C_isoprenoid_%20_biosynthetic_%20_process_%20_(GO:0008299)_%7C_ketone_%20_body_%20_biosynthetic_%20_process_%20_(GO:0046951)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_mitochondrion_%20_(GO:0005739)|hydroxymethylglutaryl-CoA_%20_synthase_%20_activity_%20_(GO:0004421)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 144816621 exm89960 A G . PASS FUNCOTATION=[NBPF9|hg19|chr1|144816621|144816621|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:144816621A>G|ENST00000281815.8|+|5|||||0.4314214463840399|AGTCGACTCAACTCTCATTGG|NBPF9_ENST00000440491.2_MISSENSE_p.T252A/NBPF9_ENST00000338347.4_MISSENSE_p.T252A/NBPF9_ENST00000468645.1_INTRON|||||||||||||||||||||||||||||||||JQ388959|||HGNC:31991|NBPF_%20_member_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"neuroblastoma_%20_breakpoint_%20_family_%2C__%20_member_%20_9"|AE01||1q21.2|2017-03-01||2017-03-01|||400818|ENSG00000269713|16079250|NM_001037675|662|NBPF_%20_members|CCDS72895_%2C__%20_CCDS72896|OTTHUMG00000013845|400818|613999|NM_001037675|Q3BBW0|ENSG00000269713|uc057kjy.1|NBPF9_HUMAN|||Q3BBW0||cytoplasm_%20_(GO:0005737)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 146696658 indel.6227 CCTA C . PASS FUNCOTATION=[FMO5|hg19|chr1|146696659|146696661|FIVE_PRIME_UTR||DEL|CTA|CTA|-|g.chr1:146696659_146696661delCTA|ENST00000254090.4|-|2|||||0.49627791563275436|GTCGCCTGTCCTAAAGAAAGGAT|FMO5_ENST00000369272.3_FIVE_PRIME_UTR/FMO5_ENST00000441068.2_FIVE_PRIME_UTR/RP11-337C18.10_ENST00000606856.1_RNA/FMO5_ENST00000465173.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z47553|NM_001461.3|NP_001452.2|HGNC:3773|flavin_%20_containing_%20_monooxygenase_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q21.1|2015-09-11|||Z47553||2330|ENSG00000131781|8786146_%2C__%20_9119381|NM_001461|||CCDS926_%2C__%20_CCDS44209_%2C__%20_CCDS44210|OTTHUMG00000014607|2330|603957|NM_001144829|P49326|ENSG00000131781|uc001epi.4|FMO5_HUMAN||B2RBG1_%7C_C9JJD1_%7C_Q8IV22|P49326||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|flavin_%20_adenine_%20_dinucleotide_%20_binding_%20_(GO:0050660)_%7C_N_%2C_N-dimethylaniline_%20_monooxygenase_%20_activity_%20_(GO:0004499)_%7C_NADP_%20_binding_%20_(GO:0050661)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 147013362 rs10900376 A G . PASS FUNCOTATION=[BCL9|hg19|chr1|147013362|147013362|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:147013362A>G|ENST00000234739.3|+|1|||||0.5087281795511222|CAGGGATTGCAGGAAAAGGGT|||B-cell_%20_CLL/lymphoma_%20_9|607|1|1q21|yes||B-ALL|||L|Dom|T|"IGH@_%2C__%20_IGL@"|||||||||||1205|biliary_tract(2)_%7C_breast(206)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(85)_%7C_kidney(180)_%7C_large_intestine(94)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_stomach(121)_%7C_upper_aerodigestive_tract(192)|||||||Y13620|NM_004326.3|NP_004317.2|HGNC:1008|B-cell_%20_CLL/lymphoma_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q21.2|2016-10-05|||Y13620||607|ENSG00000116128|9490669|NM_004326|||CCDS30833|OTTHUMG00000014031|607|602597|NM_004326|O00512|ENSG00000116128|uc031uul.2|BCL9_HUMAN||Q5T489|O00512|canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0060070)_%7C_myotube_%20_differentiation_%20_involved_%20_in_%20_skeletal_%20_muscle_%20_regeneration_%20_(GO:0014908)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_skeletal_%20_muscle_%20_cell_%20_differentiation_%20_(GO:0035914)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)|cis-Golgi_%20_network_%20_(GO:0005801)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 148011761 indel.6269 T TGA . PASS FUNCOTATION=[NBPF14|hg19|chr1|148011761|148011762|FRAME_SHIFT_INS||INS|-|-|GA|g.chr1:148011761_148011762insGA|ENST00000369219.1|-|13|1501|c.1483_1484insTC|c.(1483-1485)aaafs|p.K495fs|0.44|CCCCTTCTTTTCTTCCCCTT||||||||||||||||||||||||||269|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(172)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(7)|||||||AL359176|||HGNC:25232|NBPF_%20_member_%20_14|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"neuroblastoma_%20_breakpoint_%20_family_%2C__%20_member_%20_14"|DJ328E19.C1.1||1q21.2|2017-03-01||2017-03-01|AK092351||25832|ENSG00000270629|8619474_%2C__%20_9110174_%2C__%20_16079250|NM_015383|662|NBPF_%20_members||OTTHUMG00000188198|25832|614003|NM_015383|Q5TI25|ENSG00000270629|uc057kib.1|NBPFE_HUMAN||Q5TI23_%7C_Q8IX76_%7C_Q9UJI9|Q5TI25||cytoplasm_%20_(GO:0005737)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 150039678 rs2027349 G A . PASS FUNCOTATION=[VPS45|hg19|chr1|150039678|150039678|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:150039678G>A|ENST00000369130.3|+|1|||||0.6209476309226932|GTGGAGAATAGCGCCCGCGCG|VPS45_ENST00000369128.5_INTRON/VPS45_ENST00000535106.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U35246|NM_007259.4|NP_009190.2|HGNC:14579|vacuolar_%20_protein_%20_sorting_%20_45_%20_homolog|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|VPS45B_%2C__%20_VPS45A|"vacuolar_%20_protein_%20_sorting_%20_45A_%20_(yeast_%20_homolog)"_%2C__%20_"vacuolar_%20_protein_%20_sorting_%20_45A_%20_(yeast)"_%2C__%20_"vacuolar_%20_protein_%20_sorting_%20_45_%20_homolog_%20_(S._%20_cerevisiae)"|h-vps45_%2C__%20_H1||1q21.2|2016-04-05|2006-12-19|2016-04-05|U35246||11311|ENSG00000136631|8996080|NM_007259|||CCDS944_%2C__%20_CCDS60244_%2C__%20_CCDS72904|OTTHUMG00000012511|11311|610035|NM_001279353|Q9NRW7|ENSG00000136631|uc001etp.5|VPS45_HUMAN||D3DUZ9_%7C_F5H8K1_%7C_Q15715_%7C_Q53FR8_%7C_Q5T4P6_%7C_Q9Y4Z6|Q9NRW7|blood_%20_coagulation_%20_(GO:0007596)_%7C_intracellular_%20_protein_%20_transport_%20_(GO:0006886)_%7C_vesicle_%20_docking_%20_involved_%20_in_%20_exocytosis_%20_(GO:0006904)|endosome_%20_membrane_%20_(GO:0010008)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_membrane_%20_(GO:0000139)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 150955582 exm95494 A G . PASS FUNCOTATION=[ANXA9|hg19|chr1|150955582|150955582|START_CODON_SNP||SNP|A|A|G|g.chr1:150955582A>G|ENST00000368947.4|+|3|477|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5685785536159601|CAGTAGCACCATGTCTGTGAC|ANXA9_ENST00000474997.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR536481|NM_003568.2|NP_003559.2|HGNC:547|annexin_%20_A9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ANX31||||1q21.3|2016-10-05|||AJ009985||8416|ENSG00000143412|9742942_%2C__%20_9931420|NM_003568|404|Annexins|CCDS975|OTTHUMG00000035063|8416|603319|NM_003568|O76027|ENSG00000143412|uc001ewa.3|ANXA9_HUMAN||Q5SZF1_%7C_Q6FI55_%7C_Q9BS00_%7C_Q9HBJ6|O76027|single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|cell_%20_surface_%20_(GO:0009986)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|acetylcholine_%20_receptor_%20_activity_%20_(GO:0015464)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_calcium-dependent_%20_phospholipid_%20_binding_%20_(GO:0005544)_%7C_phosphatidylserine_%20_binding_%20_(GO:0001786)_%7C_phospholipid_%20_binding_%20_(GO:0005543)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 150975108 exm95619 T C . PASS FUNCOTATION=[FAM63A|hg19|chr1|150975108|150975108|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:150975108T>C|ENST00000361936.5|-|3|||||0.5211970074812967|AAAAGGGACTTGGCTGAGGGG|FAM63A_ENST00000361738.6_MISSENSE_p.K44E/FAM63A_ENST00000312210.5_INTRON/FAM63A_ENST00000493834.2_INTRON/FAM63A_ENST00000470877.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471121|NM_018379.4|NP_060849.2||||||||||||||||||||||||||||||FA63A_HUMAN||B3KWP4_%7C_B3KWV8_%7C_B4DXF2_%7C_B4E1S4_%7C_D3DV09_%7C_J3KP53_%7C_Q5SZF0_%7C_Q9NUL9_%7C_Q9P2F7|Q8N5J2||extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 150975123 var_1_150975123 G A . PASS FUNCOTATION=[FAM63A|hg19|chr1|150975123|150975123|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:150975123G>A|ENST00000361936.5|-|3|||||0.516209476309227|GAGGGGCACTGAAGGTGTTTA|FAM63A_ENST00000361738.6_NONSENSE_p.Q39*/FAM63A_ENST00000312210.5_INTRON/FAM63A_ENST00000493834.2_INTRON/FAM63A_ENST00000470877.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471121|NM_018379.4|NP_060849.2||||||||||||||||||||||||||||||FA63A_HUMAN||B3KWP4_%7C_B3KWV8_%7C_B4DXF2_%7C_B4E1S4_%7C_D3DV09_%7C_J3KP53_%7C_Q5SZF0_%7C_Q9NUL9_%7C_Q9P2F7|Q8N5J2||extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 151138250 exm96069 G T . PASS FUNCOTATION=[LYSMD1|hg19|chr1|151138250|151138250|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:151138250G>T|ENST00000368908.5|-|1|||||0.5511221945137157|TCAAAGGTCCGCTCCGCATAA|LYSMD1_ENST00000440902.2_MISSENSE_p.S3R/SCNM1_ENST00000368905.4_FIVE_PRIME_FLANK/SCNM1_ENST00000461862.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BX647911|NM_212551.4|NP_997716.1|HGNC:32070|LysM_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"LysM_%2C__%20_putative_%20_peptidoglycan-binding_%2C__%20_domain_%20_containing_%20_1"|SB145_%2C__%20_MGC35223_%2C__%20_RP11-68I18.5||1q21.3|2016-10-05||2016-01-22|BX647911||388695|ENSG00000163155|12477932|NM_212551|||CCDS986_%2C__%20_CCDS44218|OTTHUMG00000012260|388695||NM_001136543|Q96S90|ENSG00000163155|uc001ewy.4|LYSM1_HUMAN||B4DQA1_%7C_Q69YX9|Q96S90|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 151372047 rs2296840 C T . PASS FUNCOTATION=[PSMB4|hg19|chr1|151372047|151372047|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:151372047C>T|ENST00000290541.6|+|1|||||0.5486284289276808|TTCATTTTTTCTGCTACCGTG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||S71381|NM_002796.2|NP_002787.2|HGNC:9541|proteasome_%20_subunit_%20_beta_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"proteasome_%20_(prosome_%2C__%20_macropain)_%20_subunit_%2C__%20_beta_%20_type_%2C__%20_4"|HN3_%2C__%20_PROS26||1q21.3|2016-10-05||2015-08-12|D26600||5692|ENSG00000159377|7918633|NM_002796|690|Proteasome|CCDS996|OTTHUMG00000012494|5692|602177|NM_002796|P28070|ENSG00000159377|uc001eyc.2|PSB4_HUMAN||B2R9L3_%7C_P31148_%7C_Q5SZS5_%7C_Q6IBI4_%7C_Q969L6|P28070|anaphase-promoting_%20_complex-dependent_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0031145)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_(GO:0042590)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%2C__%20_TAP-dependent_%20_(GO:0002479)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_(GO:0002474)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_DNA_%20_damage_%20_response_%2C__%20_signal_%20_transduction_%20_by_%20_p53_%20_class_%20_mediator_%20_resulting_%20_in_%20_cell_%20_cycle_%20_arrest_%20_(GO:0006977)_%7C_G1/S_%20_transition_%20_of_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0000082)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_mRNA_%20_metabolic_%20_process_%20_(GO:0016071)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_to_%20_antigenic_%20_stimulus_%20_(GO:0002862)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-protein_%20_ligase_%20_activity_%20_involved_%20_in_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0051436)_%7C_positive_%20_regulation_%20_of_%20_ubiquitin-protein_%20_ligase_%20_activity_%20_involved_%20_in_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0051437)_%7C_protein_%20_polyubiquitination_%20_(GO:0000209)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_regulation_%20_of_%20_cellular_%20_amino_%20_acid_%20_metabolic_%20_process_%20_(GO:0006521)_%7C_regulation_%20_of_%20_ubiquitin-protein_%20_ligase_%20_activity_%20_involved_%20_in_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0051439)_%7C_RNA_%20_metabolic_%20_process_%20_(GO:0016070)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_viral_%20_process_%20_(GO:0016032)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_proteasome_%20_complex_%20_(GO:0000502)_%7C_proteasome_%20_core_%20_complex_%20_(GO:0005839)|lipopolysaccharide_%20_binding_%20_(GO:0001530)_%7C_threonine-type_%20_endopeptidase_%20_activity_%20_(GO:0004298)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 151372065 exm1714112 T C . PASS FUNCOTATION=[PSMB4|hg19|chr1|151372065|151372065|START_CODON_SNP||SNP|T|T|C|g.chr1:151372065T>C|ENST00000290541.6|+|1|56|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.5610972568578554|GTGACTAAGATGGAAGCGTTT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||S71381|NM_002796.2|NP_002787.2|HGNC:9541|proteasome_%20_subunit_%20_beta_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"proteasome_%20_(prosome_%2C__%20_macropain)_%20_subunit_%2C__%20_beta_%20_type_%2C__%20_4"|HN3_%2C__%20_PROS26||1q21.3|2016-10-05||2015-08-12|D26600||5692|ENSG00000159377|7918633|NM_002796|690|Proteasome|CCDS996|OTTHUMG00000012494|5692|602177|NM_002796|P28070|ENSG00000159377|uc001eyc.2|PSB4_HUMAN||B2R9L3_%7C_P31148_%7C_Q5SZS5_%7C_Q6IBI4_%7C_Q969L6|P28070|anaphase-promoting_%20_complex-dependent_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0031145)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_(GO:0042590)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%2C__%20_TAP-dependent_%20_(GO:0002479)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_(GO:0002474)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_DNA_%20_damage_%20_response_%2C__%20_signal_%20_transduction_%20_by_%20_p53_%20_class_%20_mediator_%20_resulting_%20_in_%20_cell_%20_cycle_%20_arrest_%20_(GO:0006977)_%7C_G1/S_%20_transition_%20_of_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0000082)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_mRNA_%20_metabolic_%20_process_%20_(GO:0016071)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_to_%20_antigenic_%20_stimulus_%20_(GO:0002862)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-protein_%20_ligase_%20_activity_%20_involved_%20_in_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0051436)_%7C_positive_%20_regulation_%20_of_%20_ubiquitin-protein_%20_ligase_%20_activity_%20_involved_%20_in_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0051437)_%7C_protein_%20_polyubiquitination_%20_(GO:0000209)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_regulation_%20_of_%20_cellular_%20_amino_%20_acid_%20_metabolic_%20_process_%20_(GO:0006521)_%7C_regulation_%20_of_%20_ubiquitin-protein_%20_ligase_%20_activity_%20_involved_%20_in_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0051439)_%7C_RNA_%20_metabolic_%20_process_%20_(GO:0016070)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_viral_%20_process_%20_(GO:0016032)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_proteasome_%20_complex_%20_(GO:0000502)_%7C_proteasome_%20_core_%20_complex_%20_(GO:0005839)|lipopolysaccharide_%20_binding_%20_(GO:0001530)_%7C_threonine-type_%20_endopeptidase_%20_activity_%20_(GO:0004298)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 151739221 indel.6571 CT C . PASS FUNCOTATION=[OAZ3|hg19|chr1|151739222|151739222|FIVE_PRIME_UTR||DEL|T|T|-|g.chr1:151739222delT|ENST00000479764.1|+|1|||||0.456359102244389|GTGTCGCCCCTCTGTCTACTC|OAZ3_ENST00000453029.2_INTRON/OAZ3_ENST00000321531.5_INTRON/OAZ3_ENST00000400999.1_FIVE_PRIME_UTR/OAZ3_ENST00000315067.8_INTRON/MRPL9_ENST00000368829.3_FIVE_PRIME_FLANK/MRPL9_ENST00000368830.3_FIVE_PRIME_FLANK/RP11-98D18.16_ENST00000596133.1_RNA/RP11-98D18.3_ENST00000512280.1_RNA/OAZ3_ENST00000577465.1_INTRON/MRPL9_ENST00000467306.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||AL589765|||HGNC:8097|ornithine_%20_decarboxylase_%20_antizyme_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q21.3|2014-11-19|||AF175296||51686|ENSG00000143450|10781085|NM_016178|||CCDS58028_%2C__%20_CCDS76216_%2C__%20_CCDS81378|OTTHUMG00000013061|51686|605138|NM_001134939|Q9UMX2|ENSG00000143450|uc010pdl.4|OAZ3_HUMAN|L-Ornithine(DB00129)|E7EUE7_%7C_Q6GMR0|Q9UMX2|cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_negative_%20_regulation_%20_of_%20_catalytic_%20_activity_%20_(GO:0043086)_%7C_negative_%20_regulation_%20_of_%20_polyamine_%20_transmembrane_%20_transport_%20_(GO:1902268)_%7C_polyamine_%20_biosynthetic_%20_process_%20_(GO:0006596)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_catabolic_%20_process_%20_(GO:0045732)_%7C_putrescine_%20_transport_%20_(GO:0015847)_%7C_regulation_%20_of_%20_cellular_%20_amino_%20_acid_%20_metabolic_%20_process_%20_(GO:0006521)_%7C_regulation_%20_of_%20_phosphoprotein_%20_phosphatase_%20_activity_%20_(GO:0043666)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_spermatogenesis_%20_(GO:0007283)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)_%7C_sperm_%20_flagellum_%20_(GO:0036126)|ornithine_%20_decarboxylase_%20_inhibitor_%20_activity_%20_(GO:0008073)_%7C_putrescine_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015489)||||true|false||false|false|||false|false|false|OAZ3:51686|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|751011390|151739222|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|144|rs751011390|] -chr1 151739333 exm97447 C T . PASS FUNCOTATION=[OAZ3|hg19|chr1|151739333|151739333|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:151739333C>T|ENST00000479764.1|+|1|||||0.4239401496259352|GATCACTCTCCGGGAGAAGAT|OAZ3_ENST00000453029.2_INTRON/OAZ3_ENST00000321531.5_INTRON/OAZ3_ENST00000400999.1_FIVE_PRIME_UTR/OAZ3_ENST00000315067.8_INTRON/MRPL9_ENST00000368829.3_FIVE_PRIME_FLANK/MRPL9_ENST00000368830.3_FIVE_PRIME_FLANK/RP11-98D18.16_ENST00000596133.1_RNA/RP11-98D18.3_ENST00000512280.1_RNA/OAZ3_ENST00000577465.1_INTRON/MRPL9_ENST00000467306.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||AL589765|||HGNC:8097|ornithine_%20_decarboxylase_%20_antizyme_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q21.3|2014-11-19|||AF175296||51686|ENSG00000143450|10781085|NM_016178|||CCDS58028_%2C__%20_CCDS76216_%2C__%20_CCDS81378|OTTHUMG00000013061|51686|605138|NM_001134939|Q9UMX2|ENSG00000143450|uc010pdl.4|OAZ3_HUMAN|L-Ornithine(DB00129)|E7EUE7_%7C_Q6GMR0|Q9UMX2|cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_negative_%20_regulation_%20_of_%20_catalytic_%20_activity_%20_(GO:0043086)_%7C_negative_%20_regulation_%20_of_%20_polyamine_%20_transmembrane_%20_transport_%20_(GO:1902268)_%7C_polyamine_%20_biosynthetic_%20_process_%20_(GO:0006596)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_catabolic_%20_process_%20_(GO:0045732)_%7C_putrescine_%20_transport_%20_(GO:0015847)_%7C_regulation_%20_of_%20_cellular_%20_amino_%20_acid_%20_metabolic_%20_process_%20_(GO:0006521)_%7C_regulation_%20_of_%20_phosphoprotein_%20_phosphatase_%20_activity_%20_(GO:0043666)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_spermatogenesis_%20_(GO:0007283)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)_%7C_sperm_%20_flagellum_%20_(GO:0036126)|ornithine_%20_decarboxylase_%20_inhibitor_%20_activity_%20_(GO:0008073)_%7C_putrescine_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015489)||||true|false||false|false|||false|false|false|OAZ3:51686|false|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|188726350|151739333|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000080a05040416000100|1|false|135|rs188726350|] -chr1 151739679 exm97451 C A . PASS FUNCOTATION=[OAZ3|hg19|chr1|151739679|151739679|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:151739679C>A|ENST00000479764.1|+|2|||||0.48877805486284287|ACTCCAGCCCCGTTCCTGCCT|OAZ3_ENST00000453029.2_MISSENSE_p.R38S/OAZ3_ENST00000321531.5_MISSENSE_p.R25S/OAZ3_ENST00000400999.1_FIVE_PRIME_UTR/OAZ3_ENST00000315067.8_MISSENSE_p.R25S/MRPL9_ENST00000368829.3_FIVE_PRIME_FLANK/MRPL9_ENST00000368830.3_FIVE_PRIME_FLANK/RP11-98D18.3_ENST00000512280.1_RNA/OAZ3_ENST00000577465.1_INTRON/MRPL9_ENST00000467306.1_FIVE_PRIME_FLANK/RP11-98D18.16_ENST00000596133.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||AL589765|||HGNC:8097|ornithine_%20_decarboxylase_%20_antizyme_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q21.3|2014-11-19|||AF175296||51686|ENSG00000143450|10781085|NM_016178|||CCDS58028_%2C__%20_CCDS76216_%2C__%20_CCDS81378|OTTHUMG00000013061|51686|605138|NM_001134939|Q9UMX2|ENSG00000143450|uc010pdl.4|OAZ3_HUMAN|L-Ornithine(DB00129)|E7EUE7_%7C_Q6GMR0|Q9UMX2|cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_negative_%20_regulation_%20_of_%20_catalytic_%20_activity_%20_(GO:0043086)_%7C_negative_%20_regulation_%20_of_%20_polyamine_%20_transmembrane_%20_transport_%20_(GO:1902268)_%7C_polyamine_%20_biosynthetic_%20_process_%20_(GO:0006596)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_catabolic_%20_process_%20_(GO:0045732)_%7C_putrescine_%20_transport_%20_(GO:0015847)_%7C_regulation_%20_of_%20_cellular_%20_amino_%20_acid_%20_metabolic_%20_process_%20_(GO:0006521)_%7C_regulation_%20_of_%20_phosphoprotein_%20_phosphatase_%20_activity_%20_(GO:0043666)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_spermatogenesis_%20_(GO:0007283)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)_%7C_sperm_%20_flagellum_%20_(GO:0036126)|ornithine_%20_decarboxylase_%20_inhibitor_%20_activity_%20_(GO:0008073)_%7C_putrescine_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015489)||||true|false||false|false|||false|false|false|OAZ3:51686|false|true|false|false|false|false|false|false|false|true|false|true|false|false|false|false|false|false|false|true|201902593|151739679|false|false|0|false|0|false|0.999931_%2C_3.4343e-005_%2C_._%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040402000104|1|false|137|rs201902593|] -chr1 152275177 exm2249939 T C . PASS FUNCOTATION=[FLG|hg19|chr1|152275177|152275177|SILENT||SNP|T|T|C|g.chr1:152275177T>C|ENST00000368799.1|-|3|12221|c.12185A>G|c.(12184-12186)tAa>tGa|p.*4062*|0.32169576059850374|ATTAATTTCTTACTCATAGTA|FLG-AS1_ENST00000420707.1_RNA/FLG-AS1_ENST00000593011.1_RNA|||||||||||||||||||||||||678|biliary_tract(27)_%7C_breast(13)_%7C_central_nervous_system(44)_%7C_genital_tract(91)_%7C_large_intestine(175)_%7C_lung(5)_%7C_pancreas(134)_%7C_testis(65)_%7C_upper_aerodigestive_tract(124)||||Ichthyosis|X-linked_%20_Ichthyosis_%2C__%20_Steroid_%20_Sulfatase_%20_Deficiency_%2C__%20_Ichthyosis_%20_Vulgaris|Familial_%20_Cancer_%20_Database|M24355|NM_002016.1|NP_002007.1|HGNC:3748|filaggrin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q21.3|2017-03-24|||XM_048104||2312|ENSG00000143631|2740331_%2C__%20_2248957_%2C__%20_16444271|NM_002016|1350_%7C_863|S100_%20_fused_%20_type_%20_protein_%20_family_%7C_EF-hand_%20_domain_%20_containing|CCDS30860|OTTHUMG00000012202|2312|135940|NM_002016|P20930|ENSG00000143631|uc001ezu.1|FILA_HUMAN||Q01720_%7C_Q5T583_%7C_Q9UC71|P20930|establishment_%20_of_%20_skin_%20_barrier_%20_(GO:0061436)_%7C_keratinocyte_%20_differentiation_%20_(GO:0030216)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)|cytoplasmic_%20_membrane-bounded_%20_vesicle_%20_(GO:0016023)_%7C_intermediate_%20_filament_%20_(GO:0005882)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_structural_%20_molecule_%20_activity_%20_(GO:0005198)||||true|false||false|false|||false|false|false|FLG:2312|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|139645876|152275177|false|false|0|false|0|true|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000305040402000100|1|false|134|rs139645876|] -chr1 152323087 exm100586 C G . PASS FUNCOTATION=[FLG2|hg19|chr1|152323087|152323087|NONSTOP||SNP|C|C|G|g.chr1:152323087C>G|ENST00000388718.5|-|3|7248|c.7175G>C|c.(7174-7176)tGa>tCa|p.*2392S|0.3940149625935162|AAATAACTGTCAATGTCTAGA|FLG-AS1_ENST00000392688.2_RNA/FLG-AS1_ENST00000445097.1_RNA|||||||||||||||||||||||||256|biliary_tract(2)_%7C_breast(33)_%7C_central_nervous_system(44)_%7C_large_intestine(35)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||DQ118293|NM_001014342.2|NP_001014364.1|HGNC:33276|filaggrin_%20_family_%20_member_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||IFPS||1q21.3|2015-09-11|||AY827490||388698|ENSG00000143520|19384417|NM_001014342|1350_%7C_863|S100_%20_fused_%20_type_%20_protein_%20_family_%7C_EF-hand_%20_domain_%20_containing|CCDS30861|OTTHUMG00000012245|388698|616284|NM_001014342|Q5D862|ENSG00000143520|uc001ezw.5|FILA2_HUMAN||Q9H4U1|Q5D862|establishment_%20_of_%20_skin_%20_barrier_%20_(GO:0061436)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_structural_%20_molecule_%20_activity_%20_(GO:0005198)||||true|false|0.997_%2C_0.002995|false|false|1||false|false|false|FLG2:388698_%7C_FLG-AS1:339400|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|150529054|152323087|false|false|0|false|0|false|0.997321_%2C_0.00267876|false|false|false|SNV|true|0x050000080205040436000100|1|false|134|rs150529054|] -chr1 152324500 indel.6754 G GC . PASS FUNCOTATION=[FLG2|hg19|chr1|152324500|152324501|FRAME_SHIFT_INS||INS|-|-|C|g.chr1:152324500_152324501insC|ENST00000388718.5|-|3|5835|c.5761_5762insG|c.(5761-5763)actfs|p.T1921fs|0.5175|CCATGAGTAGTTTGGTGTCT|FLG-AS1_ENST00000392688.2_RNA/FLG-AS1_ENST00000445097.1_RNA|||||||||||||||||||||||||256|biliary_tract(2)_%7C_breast(33)_%7C_central_nervous_system(44)_%7C_large_intestine(35)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||DQ118293|NM_001014342.2|NP_001014364.1|HGNC:33276|filaggrin_%20_family_%20_member_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||IFPS||1q21.3|2015-09-11|||AY827490||388698|ENSG00000143520|19384417|NM_001014342|1350_%7C_863|S100_%20_fused_%20_type_%20_protein_%20_family_%7C_EF-hand_%20_domain_%20_containing|CCDS30861|OTTHUMG00000012245|388698|616284|NM_001014342|Q5D862|ENSG00000143520|uc001ezw.5|FILA2_HUMAN||Q9H4U1|Q5D862|establishment_%20_of_%20_skin_%20_barrier_%20_(GO:0061436)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_structural_%20_molecule_%20_activity_%20_(GO:0005198)||||true|false||false|false|||false|false|false|FLG2:388698_%7C_FLG-AS1:339400|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|760715355|152324500|false|false|0|false|0|false||false|false|false|DIV|true|0x050000081205040402000200|1|false|144|rs760715355|] -chr1 152681553 exm101273 T A . PASS FUNCOTATION=[LCE4A|hg19|chr1|152681553|152681553|START_CODON_SNP||SNP|T|T|A|g.chr1:152681553T>A|ENST00000368777.1|+|2|258|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.4538653366583541|TCCACCAAGATGTCCTGCCAG|LCE4A_ENST00000335535.3_START_CODON_SNP_p.M1K|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(12)_%7C_pancreas(22)|||||||BC113448|||HGNC:16613|late_%20_cornified_%20_envelope_%20_4A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SPRL4A|"small_%20_proline_%20_rich-like_%20_(epidermal_%20_differentiation_%20_complex)_%20_4A"|LEP8||1q21.3|2016-10-05|2004-10-15|2004-10-11|BI670517||199834|ENSG00000187170|11698679|NM_178356|627|Late_%20_cornified_%20_envelope_%20_proteins|CCDS1022|OTTHUMG00000014394|199834|612618|NM_178356|Q5TA78|ENSG00000187170|uc057lag.1|LCE4A_HUMAN||Q14D97|Q5TA78|keratinization_%20_(GO:0031424)||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 152944369 exm101772 G A . PASS FUNCOTATION=[SPRR4|hg19|chr1|152944369|152944369|START_CODON_SNP||SNP|G|G|A|g.chr1:152944369G>A|ENST00000328051.2|+|2|52|c.3G>A|c.(1-3)atG>atA|p.M1I|0.5062344139650873|CTAGAGCAATGTCTTCCCAGC||||||||||||||||||||||||||68|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112172|NM_173080.1|NP_775103.1|HGNC:23173|small_%20_proline_%20_rich_%20_protein_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"small_%20_proline-rich_%20_protein_%20_4"|||1q21.3|2016-01-25||2016-01-25|AF335109||163778|ENSG00000184148|11719550_%2C__%20_11279051|NM_173080|1353|Small_%20_proline_%20_rich_%20_proteins|CCDS1031|OTTHUMG00000012450|163778|616363|NM_173080|Q96PI1|ENSG00000184148|uc001fav.2|SPRR4_HUMAN||Q2M1Y7_%7C_Q5T522|Q96PI1|keratinization_%20_(GO:0031424)_%7C_peptide_%20_cross-linking_%20_(GO:0018149)|cytoplasm_%20_(GO:0005737)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 153122367 exm101949 A G . PASS FUNCOTATION=[SPRR2G|hg19|chr1|153122367|153122367|NONSTOP||SNP|A|A|G|g.chr1:153122367A>G|ENST00000368748.4|-|2|259|c.220T>C|c.(220-222)Taa>Caa|p.*74Q|0.5411471321695761|TAGTGATGTTACTTGCTCTTG||||||||||||||||||||||||||68|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL157405|NM_001014291.3|NP_001014313.1|HGNC:11267|small_%20_proline_%20_rich_%20_protein_%20_2G|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"small_%20_proline-rich_%20_protein_%20_2G"|||1q21.3|2017-03-31||2016-01-25|AF333957||6706|ENSG00000159516|8325635_%2C__%20_11279051||1353|Small_%20_proline_%20_rich_%20_proteins|CCDS30868|OTTHUMG00000014399|6706|617590|NM_001014291|Q9BYE4|ENSG00000159516|uc009wod.3|SPR2G_HUMAN|||Q9BYE4|epidermis_%20_development_%20_(GO:0008544)_%7C_keratinization_%20_(GO:0031424)_%7C_keratinocyte_%20_differentiation_%20_(GO:0030216)|cornified_%20_envelope_%20_(GO:0001533)_%7C_cytoplasm_%20_(GO:0005737)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 153177184 exm101965 A G . PASS FUNCOTATION=[LELP1|hg19|chr1|153177184|153177184|START_CODON_SNP||SNP|A|A|G|g.chr1:153177184A>G|ENST00000368747.1|+|2|111|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.46384039900249374|TCAAGAAACAATGTCGAGTGA||||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC130511|NM_001010857.2|NP_001010857.1|HGNC:32046|late_%20_cornified_%20_envelope_%20_like_%20_proline_%20_rich_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q21.3|2016-04-06||2016-04-06|||149018|ENSG00000203784||NM_001010857|||CCDS30869|OTTHUMG00000013935|149018|611042|NM_001010857|Q5T871|ENSG00000203784|uc001fbl.5|LELP1_HUMAN||A1L4E1|Q5T871|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 153390542 exm102219 G C . PASS FUNCOTATION=[S100A7A|hg19|chr1|153390542|153390542|FIVE_PRIME_UTR||SNP|G|G|C|g.chr1:153390542G>C|ENST00000368729.4|+|2|||||0.4538653366583541|TTTCCTGAAGGCTTTTTGAAA|S100A7A_ENST00000329256.2_FIVE_PRIME_UTR/S100A7A_ENST00000368728.2_FIVE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471121|NM_176823.3|NP_789793.1|HGNC:21657|S100_%20_calcium_%20_binding_%20_protein_%20_A7A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|S100A15_%2C__%20_S100A7L1|"S100_%20_calcium_%20_binding_%20_protein_%20_A15"_%2C__%20_"S100_%20_calcium_%20_binding_%20_protein_%20_A7-like_%20_1"|S100A7f||1q21.3|2016-10-05|2006-09-11|2006-09-11|AY189118||338324|ENSG00000184330|11230159|NM_176823|459_%7C_863|S100_%20_calcium_%20_binding_%20_proteins_%7C_EF-hand_%20_domain_%20_containing|CCDS30872|OTTHUMG00000013122|338324|617427|NM_176823|Q86SG5|ENSG00000184330|uc001fbt.1|S1A7A_HUMAN||D3DV38_%7C_Q5SY69|Q86SG5||cytoplasm_%20_(GO:0005737)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein_%20_self-association_%20_(GO:0043621)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 153431505 exm1715554 G T . PASS FUNCOTATION=[S100A7|hg19|chr1|153431505|153431505|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:153431505G>T|ENST00000368723.3|-|2|||||0.4339152119700748|CTTTCAAAAAGCCTTCAGGAA|S100A7_ENST00000368722.1_FIVE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M86757|NM_002963.3|NP_002954.2|HGNC:10497|S100_%20_calcium_%20_binding_%20_protein_%20_A7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PSOR1|"S100_%20_calcium-binding_%20_protein_%20_A7_%20_(psoriasin_%20_1)"_%2C__%20_"S100_%20_calcium_%20_binding_%20_protein_%20_A7_%20_(psoriasin_%20_1)"|S100A7c||1q21.3|2016-10-05||2006-09-11|BC034687||6278|ENSG00000143556|1940442|NM_002963|459_%7C_863|S100_%20_calcium_%20_binding_%20_proteins_%7C_EF-hand_%20_domain_%20_containing|CCDS1039|OTTHUMG00000013123|6278|600353|NM_002963|P31151|ENSG00000143556|uc001fbv.2|S10A7_HUMAN||Q5SY67_%7C_Q6FGE3_%7C_Q9H1E2|P31151|angiogenesis_%20_(GO:0001525)_%7C_defense_%20_response_%20_to_%20_Gram-negative_%20_bacterium_%20_(GO:0050829)_%7C_epidermis_%20_development_%20_(GO:0008544)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_keratinocyte_%20_differentiation_%20_(GO:0030216)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_granulocyte_%20_chemotaxis_%20_(GO:0071624)_%7C_positive_%20_regulation_%20_of_%20_monocyte_%20_chemotaxis_%20_(GO:0090026)_%7C_positive_%20_regulation_%20_of_%20_T_%20_cell_%20_chemotaxis_%20_(GO:0010820)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)_%7C_response_%20_to_%20_reactive_%20_oxygen_%20_species_%20_(GO:0000302)_%7C_sequestering_%20_of_%20_metal_%20_ion_%20_(GO:0051238)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_RAGE_%20_receptor_%20_binding_%20_(GO:0050786)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 153514241 exm2231338 A C . PASS FUNCOTATION=[S100A5|hg19|chr1|153514241|153514241|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:153514241A>C|ENST00000368718.1|-|1|||||0.4912718204488778|GAAGTGTGGGACAAACACAGG|S100A5_ENST00000359215.1_FIVE_PRIME_UTR/S100A5_ENST00000368717.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z18954|NM_002962.1|NP_002953.2|HGNC:10495|S100_%20_calcium_%20_binding_%20_protein_%20_A5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|S100D|"S100_%20_calcium-binding_%20_protein_%20_A5"|||1q21.3|2016-10-05||2001-11-28|Z18954||6276|ENSG00000196420|8341667|NM_002962|459_%7C_863|S100_%20_calcium_%20_binding_%20_proteins_%7C_EF-hand_%20_domain_%20_containing|CCDS1041|OTTHUMG00000013547|6276|176991|NM_002962|P33763|ENSG00000196420|uc001fbx.3|S10A5_HUMAN||Q52LE7_%7C_Q5RHS3|P33763||neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_copper_%20_ion_%20_binding_%20_(GO:0005507)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 153517519 rs11488669 G A . PASS FUNCOTATION=[S100A4|hg19|chr1|153517519|153517519|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:153517519G>A|ENST00000368715.1|-|1|||||0.6109725685785536|CTGGAGATTCGGGCAGCAAAC|S100A4_ENST00000368716.4_INTRON/S100A4_ENST00000354332.4_INTRON/S100A4_ENST00000368714.1_INTRON/S100A5_ENST00000359215.1_FIVE_PRIME_FLANK/S100A5_ENST00000368717.2_FIVE_PRIME_FLANK/S100A5_ENST00000368718.1_FIVE_PRIME_FLANK/S100A4_ENST00000481009.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z33457|||HGNC:10494|S100_%20_calcium_%20_binding_%20_protein_%20_A4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTS1_%2C__%20_CAPL|"S100_%20_calcium-binding_%20_protein_%20_A4_%20_(calcium_%20_protein_%2C__%20_calvasculin_%2C__%20_metastasin_%2C__%20_murine_%20_placental_%20_homolog)"_%2C__%20_"S100_%20_calcium_%20_binding_%20_protein_%20_A4_%20_(calcium_%20_protein_%2C__%20_calvasculin_%2C__%20_metastasin_%2C__%20_murine_%20_placental_%20_homolog)"|P9KA_%2C__%20_18A2_%2C__%20_PEL98_%2C__%20_42A_%2C__%20_FSP1|"fibroblast-specific_%20_protein-1"|1q21.3|2016-10-05||2006-09-11|BC016300||6275|ENSG00000196154|3155863|NM_002961|459_%7C_863|S100_%20_calcium_%20_binding_%20_proteins_%7C_EF-hand_%20_domain_%20_containing|CCDS1042|OTTHUMG00000013546|6275|114210|NM_002961|P26447|ENSG00000196154|uc057lbo.1|S10A4_HUMAN|Trifluoperazine(DB00831)|A8K7R8_%7C_D3DV46_%7C_Q6ICP8|P26447|epithelial_%20_to_%20_mesenchymal_%20_transition_%20_(GO:0001837)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)|extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_neuron_%20_projection_%20_(GO:0043005)_%7C_nucleus_%20_(GO:0005634)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_RAGE_%20_receptor_%20_binding_%20_(GO:0050786)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 153580653 exm1715597 C A . PASS FUNCOTATION=[S100A16|hg19|chr1|153580653|153580653|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:153580653C>A|ENST00000368704.1|-|2|||||0.571072319201995|GCTGGCGGGGCCTGGACACCA|S100A16_ENST00000368706.4_FIVE_PRIME_UTR/S100A16_ENST00000368705.2_FIVE_PRIME_UTR/S100A16_ENST00000368703.2_FIVE_PRIME_UTR/S100A16_ENST00000474991.1_SPLICE_SITE|Melanoma(71_%3B_1388_%20_1729_%20_37039_%20_46098)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471121|||HGNC:20441|S100_%20_calcium_%20_binding_%20_protein_%20_A16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||S100F_%2C__%20_DT1P1A7_%2C__%20_MGC17528||1q21.3|2016-10-05|||BC010541||140576|ENSG00000188643|9417904|NM_080388|459_%7C_863|S100_%20_calcium_%20_binding_%20_proteins_%7C_EF-hand_%20_domain_%20_containing|CCDS1045|OTTHUMG00000013545|140576|617437|NM_001317007|Q96FQ6|ENSG00000188643|uc001fcd.2|S10AG_HUMAN||A8K439_%7C_D3DV52_%7C_Q5RHS6|Q96FQ6|response_%20_to_%20_calcium_%20_ion_%20_(GO:0051592)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleolus_%20_(GO:0005730)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 153604519 rs3818632 G A . PASS FUNCOTATION=[S100A13|hg19|chr1|153604519|153604519|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:153604519G>A|ENST00000368699.1|-|2|||||0.5411471321695761|CCAGCCATCCGATGTCTGTCT|S100A13_ENST00000339556.4_FIVE_PRIME_FLANK/CHTOP_ENST00000368690.3_FIVE_PRIME_FLANK/CHTOP_ENST00000368694.3_FIVE_PRIME_FLANK/S100A13_ENST00000392622.1_FIVE_PRIME_FLANK/S100A13_ENST00000392623.1_FIVE_PRIME_FLANK/CHTOP_ENST00000403433.1_FIVE_PRIME_FLANK/S100A13_ENST00000440685.2_FIVE_PRIME_FLANK/RP1-178F15.4_ENST00000469931.2_RNA/RP1-178F15.5_ENST00000497086.1_RNA/RP1-178F15.4_ENST00000607839.1_RNA/S100A13_ENST00000491177.1_FIVE_PRIME_FLANK/CHTOP_ENST00000495554.1_FIVE_PRIME_FLANK|NSCLC(156_%3B_1296_%20_1989_%20_17590_%20_30930_%20_49554)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X99920|NM_001024210.1|NP_001019382.1|HGNC:10490|S100_%20_calcium_%20_binding_%20_protein_%20_A13|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"S100_%20_calcium-binding_%20_protein_%20_A13"|||1q21.3|2016-10-05||2001-11-28|AK097132||6284|ENSG00000189171|8985590|NM_005979|459|S100_%20_calcium_%20_binding_%20_proteins|CCDS30874|OTTHUMG00000036641|6284|601989|NM_001024210|Q99584|ENSG00000189171|uc057lce.1|S10AD_HUMAN|Amlexanox(DB01025)_%7C_Olopatadine(DB00768)|Q52PI9_%7C_Q6FGF8|Q99584|cytokine_%20_secretion_%20_(GO:0050663)_%7C_interleukin-1_%20_alpha_%20_secretion_%20_(GO:0050703)_%7C_mast_%20_cell_%20_degranulation_%20_(GO:0043303)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_regulation_%20_of_%20_cell_%20_shape_%20_(GO:0008360)_%7C_response_%20_to_%20_copper_%20_ion_%20_(GO:0046688)_%7C_response_%20_to_%20_electrical_%20_stimulus_%20_(GO:0051602)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mast_%20_cell_%20_granule_%20_(GO:0042629)_%7C_nucleus_%20_(GO:0005634)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_copper_%20_ion_%20_binding_%20_(GO:0005507)_%7C_fibroblast_%20_growth_%20_factor_%20_binding_%20_(GO:0017134)_%7C_lipid_%20_binding_%20_(GO:0008289)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_RAGE_%20_receptor_%20_binding_%20_(GO:0050786)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 153752478 exm103036 A G . PASS FUNCOTATION=[SLC27A3|hg19|chr1|153752478|153752478|NONSTOP||SNP|A|A|G|g.chr1:153752478A>G|ENST00000271857.2|+|10|3196|c.2436A>G|c.(2434-2436)tgA>tgG|p.*812W|0.5386533665835411|TTCGAATCTGAGAACTTCCAC|SLC27A3_ENST00000368661.3_NONSTOP_p.*731W/SLC27A3_ENST00000484014.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC029792|||HGNC:10997|solute_%20_carrier_%20_family_%20_27_%20_member_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_27_%20_(fatty_%20_acid_%20_transporter)_%2C__%20_member_%20_3"|FATP3_%2C__%20_MGC4365_%2C__%20_ACSVL3||1q21.3|2016-10-05||2016-02-17|BC009916||11000|ENSG00000143554|9671728|NM_024330|752_%7C_40|Solute_%20_carriers_%7C_Acyl-CoA_%20_synthetase_%20_family|CCDS1053|OTTHUMG00000037155|11000|604193|NM_001317929|Q5K4L6|ENSG00000143554|uc001fcz.3|S27A3_HUMAN||Q5VUQ7_%7C_Q5VUQ8_%7C_Q5VUR3_%7C_Q6ZV16_%7C_Q8N2X7_%7C_Q8TEJ0_%7C_Q96SW5_%7C_Q9BTJ5_%7C_Q9BTY5|Q5K4L6|fatty_%20_acid_%20_metabolic_%20_process_%20_(GO:0006631)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrion_%20_(GO:0005739)|fatty-acyl-CoA_%20_synthase_%20_activity_%20_(GO:0004321)_%7C_ligase_%20_activity_%20_(GO:0016874)_%7C_nucleotide_%20_binding_%20_(GO:0000166)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 153935543 rs2072704 G A . PASS FUNCOTATION=[SLC39A1|hg19|chr1|153935543|153935543|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:153935543G>A|ENST00000368623.3|-|1|||||0.5511221945137157|ACCTGGAGCTGGAGTTCCCCT|SLC39A1_ENST00000368621.1_FIVE_PRIME_UTR/SLC39A1_ENST00000310483.6_INTRON/SLC39A1_ENST00000356205.4_INTRON/SLC39A1_ENST00000537590.1_INTRON/CREB3L4_ENST00000271889.4_FIVE_PRIME_FLANK/CREB3L4_ENST00000368607.3_FIVE_PRIME_FLANK/CRTC2_ENST00000368630.3_FIVE_PRIME_FLANK/CRTC2_ENST00000368633.1_FIVE_PRIME_FLANK/CREB3L4_ENST00000405694.3_FIVE_PRIME_FLANK/SLC39A1_ENST00000461071.1_INTRON/CRTC2_ENST00000476883.1_FIVE_PRIME_FLANK/RP11-422P24.10_ENST00000608147.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471121|||HGNC:12876|solute_%20_carrier_%20_family_%20_39_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZIRTL|"zinc/iron_%20_regulated_%20_transporter-like"_%2C__%20_"solute_%20_carrier_%20_family_%20_39_%20_(zinc_%20_transporter)_%2C__%20_member_%20_1"|ZIP1||1q21.3|2016-10-05|2002-02-15|2016-02-17|BC007886||27173|ENSG00000143570|10610721_%2C__%20_10681536|NM_014437|752|Solute_%20_carriers|CCDS1055_%2C__%20_CCDS72920|OTTHUMG00000037158|27173|604740|NM_001271957|Q9NY26|ENSG00000143570|uc031ppi.1|S39A1_HUMAN||B4DDY7_%7C_Q5T4K1_%7C_Q8N2H7_%7C_Q9BTV0_%7C_Q9UBI7_%7C_Q9Y2Z7_%7C_Q9Y380|Q9NY26|cation_%20_transport_%20_(GO:0006812)_%7C_transmembrane_%20_transport_%20_(GO:0055085)_%7C_zinc_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0071577)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|inorganic_%20_cation_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0022890)_%7C_zinc_%20_ion_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005385)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 153963239 exm103541 C T . PASS FUNCOTATION=[RPS27|hg19|chr1|153963239|153963239|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:153963239C>T|ENST00000368567.4|+|1|||||0.5336658354114713|GCTTTCGCTCCTTTCCGGCGG|RPS27_ENST00000392558.4_FIVE_PRIME_UTR/RAB13_ENST00000368575.3_FIVE_PRIME_FLANK/RPS27_ENST00000493224.1_SPLICE_SITE/RAB13_ENST00000462680.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U57847|NM_001030.4|NP_001021.1|HGNC:10416|ribosomal_%20_protein_%20_S27|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ribosomal_%20_protein_%20_S27_%20_(metallopanstimulin_%20_1)"|MPS-1_%2C__%20_MPS1_%2C__%20_S27|"metallopanstimulin_%20_1"|1q21.3|2016-10-05||2008-08-29|U57847||6232|ENSG00000177954|8908372_%2C__%20_8407955|NM_001030|728|S_%20_ribosomal_%20_proteins|CCDS1059|OTTHUMG00000036591|6232|603702|NM_001030|P42677|ENSG00000177954|uc001fdv.4|RS27_HUMAN||Q5T4L6|P42677|cell_%20_proliferation_%20_(GO:0008283)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_mRNA_%20_metabolic_%20_process_%20_(GO:0016071)_%7C_nuclear-transcribed_%20_mRNA_%20_catabolic_%20_process_%2C__%20_nonsense-mediated_%20_decay_%20_(GO:0000184)_%7C_RNA_%20_metabolic_%20_process_%20_(GO:0016070)_%7C_SRP-dependent_%20_cotranslational_%20_protein_%20_targeting_%20_to_%20_membrane_%20_(GO:0006614)_%7C_translation_%20_(GO:0006412)_%7C_translational_%20_elongation_%20_(GO:0006414)_%7C_translational_%20_initiation_%20_(GO:0006413)_%7C_translational_%20_termination_%20_(GO:0006415)_%7C_viral_%20_life_%20_cycle_%20_(GO:0019058)_%7C_viral_%20_process_%20_(GO:0016032)_%7C_viral_%20_transcription_%20_(GO:0019083)|cytosol_%20_(GO:0005829)_%7C_cytosolic_%20_small_%20_ribosomal_%20_subunit_%20_(GO:0022627)_%7C_nucleus_%20_(GO:0005634)_%7C_ribosome_%20_(GO:0005840)|DNA_%20_binding_%20_(GO:0003677)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_structural_%20_constituent_%20_of_%20_ribosome_%20_(GO:0003735)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 154245142 rs11265425 T G . PASS FUNCOTATION=[HAX1|hg19|chr1|154245142|154245142|FIVE_PRIME_UTR||SNP|T|T|G|g.chr1:154245142T>G|ENST00000328703.7|+|1|||||0.5660847880299252|TGCGCAGGTTTCCCCCGTCTG|HAX1_ENST00000483970.2_FIVE_PRIME_UTR/HAX1_ENST00000457918.2_FIVE_PRIME_UTR/HAX1_ENST00000532105.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)||||Kostmann_%20_syndrome|Kostmann_%20_Infantile_%20_Agranulocytosis_%2C__%20_Severe_%20_Congenital_%20_Neutropenia_%2C__%20_Congenital_%20_Agranulocytosis|Familial_%20_Cancer_%20_Database|U68566|NM_006118.3|NP_006109.2|HGNC:16915|HCLS1_%20_associated_%20_protein_%20_X-1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||HS1BP1_%2C__%20_HCLSBP1|"HCLS1_%20_(and_%20_PKD2)_%20_associated_%20_protein"|1q21.3|2017-03-24|||U68566||10456|ENSG00000143575|9058808_%2C__%20_10760273|NM_006118|||CCDS1064_%2C__%20_CCDS44230|OTTHUMG00000035978|10456|605998|NM_001018837|O00165|ENSG00000143575|uc001fes.5|HAX1_HUMAN||A8W4W9_%7C_A8W4X0_%7C_B4DUJ7_%7C_Q5VYD5_%7C_Q5VYD7_%7C_Q96AU4_%7C_Q9BS80|O00165|cellular_%20_response_%20_to_%20_cytokine_%20_stimulus_%20_(GO:0071345)_%7C_positive_%20_regulation_%20_of_%20_actin_%20_cytoskeleton_%20_reorganization_%20_(GO:2000251)_%7C_positive_%20_regulation_%20_of_%20_granulocyte_%20_differentiation_%20_(GO:0030854)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050731)_%7C_positive_%20_regulation_%20_of_%20_phosphatidylinositol_%20_3-kinase_%20_signaling_%20_(GO:0014068)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051897)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_regulation_%20_of_%20_actin_%20_filament_%20_polymerization_%20_(GO:0030833)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_regulation_%20_of_%20_mitochondrion_%20_degradation_%20_(GO:1903146)_%7C_regulation_%20_of_%20_protein_%20_targeting_%20_to_%20_mitochondrion_%20_(GO:1903214)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_lamellipodium_%20_(GO:0030027)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_sarcoplasmic_%20_reticulum_%20_(GO:0016529)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)|interleukin-1_%20_binding_%20_(GO:0019966)_%7C_protein_%20_N-terminus_%20_binding_%20_(GO:0047485)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 154956373 exm105089 A G . PASS FUNCOTATION=[FLAD1|hg19|chr1|154956373|154956373|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:154956373A>G|ENST00000315144.10|+|2|||||0.5910224438902744|TGCCCTGTAGACCTGGCAGGC|FLAD1_ENST00000368433.1_MISSENSE_p.D68G/FLAD1_ENST00000292180.3_MISSENSE_p.D68G/FLAD1_ENST00000368432.1_FIVE_PRIME_UTR/FLAD1_ENST00000368431.3_FIVE_PRIME_UTR/FLAD1_ENST00000295530.2_FIVE_PRIME_FLANK/FLAD1_ENST00000368428.1_FIVE_PRIME_FLANK/FLAD1_ENST00000405236.2_FIVE_PRIME_FLANK/FLAD1_ENST00000487371.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U79241|NM_201398.2|NP_958800.1|HGNC:24671|flavin_%20_adenine_%20_dinucleotide_%20_synthetase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Fad1_%2C__%20_flavin_%20_adenine_%20_dinucleotide_%20_synthetase_%2C__%20_homolog_%20_(yeast)"_%2C__%20_"FAD1_%20_flavin_%20_adenine_%20_dinucleotide_%20_synthetase_%20_homolog_%20_(S._%20_cerevisiae)"_%2C__%20_"flavin_%20_adenine_%20_dinucleotide_%20_synthetase"|PP591_%2C__%20_FAD1||1q21.3|2016-10-05||2013-03-05||2.7.7.2|80308|ENSG00000160688||NM_025207|||CCDS1078_%2C__%20_CCDS1079_%2C__%20_CCDS53371_%2C__%20_CCDS53372|OTTHUMG00000037416|80308|610595|NM_001184891|Q8NFF5|ENSG00000160688|uc001fge.3|FAD1_HUMAN||Q8N5J1_%7C_Q8N686_%7C_Q8WU93_%7C_Q8WUJ4_%7C_Q96CR8_%7C_Q99764_%7C_Q9HBN6|Q8NFF5|FAD_%20_biosynthetic_%20_process_%20_(GO:0006747)_%7C_Mo-molybdopterin_%20_cofactor_%20_biosynthetic_%20_process_%20_(GO:0006777)_%7C_riboflavin_%20_metabolic_%20_process_%20_(GO:0006771)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)_%7C_mitochondrion_%20_(GO:0005739)|ATP_%20_binding_%20_(GO:0005524)_%7C_FMN_%20_adenylyltransferase_%20_activity_%20_(GO:0003919)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 155214473 rs12034326 A G . PASS FUNCOTATION=[GBA|hg19|chr1|155214473|155214473|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:155214473A>G|ENST00000428024.3|-|1|||||0.6159600997506235|TCGGGGCGGGACCTGGATTGG|GBA_ENST00000327247.5_FIVE_PRIME_FLANK/GBA_ENST00000368373.3_FIVE_PRIME_FLANK/GBA_ENST00000427500.3_FIVE_PRIME_FLANK/GBA_ENST00000536770.1_FIVE_PRIME_FLANK/GBA_ENST00000493842.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)||||Gaucher_%20_disease_%20_type_%20_I|glucocerebrosidase_%20_insufficiency|Familial_%20_Cancer_%20_Database|AL713999|NM_001171811.1|NP_001165282.1|HGNC:4177|glucosylceramidase_%20_beta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GLUC|"glucosylceramidase"_%2C__%20_"glucosidase_%2C__%20_beta_%3B__%20_acid_%20_(includes_%20_glucosylceramidase)"_%2C__%20_"glucosidase_%2C__%20_beta_%2C__%20_acid"|GBA1||1q22|2017-07-26||2016-03-15|M19285|3.2.1.21|2629|ENSG00000177628|3359914|NM_000157|||CCDS1102_%2C__%20_CCDS53373_%2C__%20_CCDS53374|OTTHUMG00000035841|2629|606463|NM_000157|P04062|ENSG00000177628|uc001fjk.4|GLCM_HUMAN|Velaglucerase_%20_alfa(DB06720)|A8K796_%7C_B7Z5G2_%7C_B7Z6S1_%7C_J3KQG4_%7C_J3KQK9_%7C_Q16545_%7C_Q4VX22_%7C_Q6I9R6_%7C_Q9UMJ8|P04062|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cell_%20_death_%20_(GO:0008219)_%7C_cellular_%20_response_%20_to_%20_tumor_%20_necrosis_%20_factor_%20_(GO:0071356)_%7C_ceramide_%20_biosynthetic_%20_process_%20_(GO:0046513)_%7C_glucosylceramide_%20_catabolic_%20_process_%20_(GO:0006680)_%7C_glycosphingolipid_%20_metabolic_%20_process_%20_(GO:0006687)_%7C_negative_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050728)_%7C_negative_%20_regulation_%20_of_%20_interleukin-6_%20_production_%20_(GO:0032715)_%7C_negative_%20_regulation_%20_of_%20_MAP_%20_kinase_%20_activity_%20_(GO:0043407)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_dephosphorylation_%20_(GO:0035307)_%7C_regulation_%20_of_%20_water_%20_loss_%20_via_%20_skin_%20_(GO:0033561)_%7C_response_%20_to_%20_estrogen_%20_(GO:0043627)_%7C_response_%20_to_%20_glucocorticoid_%20_(GO:0051384)_%7C_response_%20_to_%20_pH_%20_(GO:0009268)_%7C_response_%20_to_%20_testosterone_%20_(GO:0033574)_%7C_response_%20_to_%20_thyroid_%20_hormone_%20_(GO:0097066)_%7C_skin_%20_morphogenesis_%20_(GO:0043589)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_sphingolipid_%20_metabolic_%20_process_%20_(GO:0006665)_%7C_sphingosine_%20_biosynthetic_%20_process_%20_(GO:0046512)_%7C_termination_%20_of_%20_signal_%20_transduction_%20_(GO:0023021)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)|glucosylceramidase_%20_activity_%20_(GO:0004348)_%7C_receptor_%20_binding_%20_(GO:0005102)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 157670278 exm111816 A T . PASS FUNCOTATION=[FCRL3|hg19|chr1|157670278|157670278|START_CODON_SNP||SNP|A|A|T|g.chr1:157670278A>T|ENST00000368184.3|-|2|294|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.5037406483790524|CCACAGAAGCATGGGCACCGG|FCRL3_ENST00000368186.5_START_CODON_SNP_p.M1K/FCRL3_ENST00000473231.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||154|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||EF064732|NM_052939.3|NP_443171.2|HGNC:18506|Fc_%20_receptor_%20_like_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Fc_%20_receptor-like_%20_3"|FCRH3_%2C__%20_IRTA3_%2C__%20_IFGP3_%2C__%20_SPAP2a_%2C__%20_SPAP2_%2C__%20_SPAP2b_%2C__%20_SPAP2c_%2C__%20_SPAP2d_%2C__%20_SPAP2e_%2C__%20_CD307c||1q23.1|2016-10-05||2016-01-21|AF459027||115352|ENSG00000160856|11493702_%2C__%20_12014205|NM_052939|471_%7C_594|CD_%20_molecules_%7C_Immunoglobulin_%20_like_%20_domain_%20_containing|CCDS1167_%2C__%20_CCDS81385|OTTHUMG00000019400|115352|606510|NM_001320333|Q96P31|ENSG00000160856|uc001frb.4|FCRL3_HUMAN||A0N0M4_%7C_A8MTH7_%7C_D3DVD2_%7C_Q5VXZ8_%7C_Q8N6S2_%7C_Q96LA4_%7C_Q96P27_%7C_Q96P28_%7C_Q96P29_%7C_Q96P30|Q96P31||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 157716528 exm111824 A G . PASS FUNCOTATION=[FCRL2|hg19|chr1|157716528|157716528|NONSTOP||SNP|A|A|G|g.chr1:157716528A>G|ENST00000361516.3|-|12|1574|c.1525T>C|c.(1525-1527)Taa>Caa|p.*509Q|0.4139650872817955|TCCAAGTGTTATGATTTCTTC|FCRL2_ENST00000368181.4_NONSTOP_p.*203Q/FCRL2_ENST00000392274.3_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||EF064733|NM_030764.3|NP_110391.2|HGNC:14875|Fc_%20_receptor_%20_like_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SPAP1|"SH2_%20_domain-containing_%20_phosphatase_%20_anchor_%20_protein_%20_1"_%2C__%20_"Fc_%20_receptor-like_%20_2"|FCRH2_%2C__%20_IRTA4_%2C__%20_CD307b||1q23.1|2016-01-21|2005-03-23|2016-01-21|AF319438||79368|ENSG00000132704|11162587|NM_030764|471_%7C_594|CD_%20_molecules_%7C_Immunoglobulin_%20_like_%20_domain_%20_containing|CCDS1168|OTTHUMG00000019399|79368|606509|NM_001159488|Q96LA5|ENSG00000132704|uc001fre.3|FCRL2_HUMAN||A0N0M5_%7C_A1L307_%7C_A6NMS0_%7C_Q6NTA1_%7C_Q9BZI4_%7C_Q9BZI5_%7C_Q9BZI6|Q96LA5|cell-cell_%20_signaling_%20_(GO:0007267)_%7C_positive_%20_regulation_%20_of_%20_signal_%20_transduction_%20_(GO:0009967)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|SH3/SH2_%20_adaptor_%20_activity_%20_(GO:0005070)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 158323779 exm112427 A G . PASS FUNCOTATION=[CD1E|hg19|chr1|158323779|158323779|START_CODON_SNP||SNP|A|A|G|g.chr1:158323779A>G|ENST00000368167.3|+|1|240|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5361596009975063|CAGAGCTTCAATGCTGCTCCT|CD1E_ENST00000368160.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368161.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368163.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368166.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368165.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368164.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368156.1_START_CODON_SNP_p.M1V/CD1E_ENST00000452291.2_START_CODON_SNP_p.M1V/CD1E_ENST00000368155.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368154.1_START_CODON_SNP_p.M1V/CD1E_ENST00000368157.1_START_CODON_SNP_p.M1V/CD1E_ENST00000444681.2_START_CODON_SNP_p.M1V/CD1E_ENST00000434258.1_INTRON/CD1E_ENST00000464822.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||190|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(99)_%7C_pancreas(22)|||||||X79519|NM_030893.3|NP_112155.2|HGNC:1638|CD1e_%20_molecule|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"CD1E_%20_antigen_%2C__%20_e_%20_polypeptide"_%2C__%20_"CD1e_%20_antigen"|||1q23.1|2014-11-19||2006-03-28|AJ289111||913|ENSG00000158488|10948205|NM_030893|591_%7C_471|C1-set_%20_domain_%20_containing_%7C_CD_%20_molecules|CCDS41417_%2C__%20_CCDS41418_%2C__%20_CCDS41419_%2C__%20_CCDS41420_%2C__%20_CCDS41421_%2C__%20_CCDS41422_%2C__%20_CCDS53387_%2C__%20_CCDS53388_%2C__%20_CCDS53389_%2C__%20_CCDS53390_%2C__%20_CCDS53384_%2C__%20_CCDS53385_%2C__%20_CCDS53386|OTTHUMG00000017515|913|188411|NM_001042583|P15812|ENSG00000158488|uc001fse.4|CD1E_HUMAN||B4DZV3_%7C_E7EP01_%7C_Q5TDJ9_%7C_Q5TDK3_%7C_Q5TDK4_%7C_Q5TDK5_%7C_Q5TDK6_%7C_Q5TDK8_%7C_Q5TDL1_%7C_Q712E4_%7C_Q712E5_%7C_Q712E6_%7C_Q712E7_%7C_Q712E8_%7C_Q712E9_%7C_Q712F0_%7C_Q712F1_%7C_Q712F2_%7C_Q712F3_%7C_Q712F4_%7C_Q712F5_%7C_Q96TD0_%7C_Q96TD1_%7C_Q9UMM1_%7C_Q9Y5M3|P15812|antigen_%20_processing_%20_and_%20_presentation_%20_(GO:0019882)_%7C_immune_%20_response_%20_(GO:0006955)|endosome_%20_(GO:0005768)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_lysosome_%20_(GO:0005764)|lipid_%20_binding_%20_(GO:0008289)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 158576993 indel.7654 T TC . PASS FUNCOTATION=[OR10Z1|hg19|chr1|158576993|158576994|FRAME_SHIFT_INS||INS|-|-|C|g.chr1:158576993_158576994insC|ENST00000361284.1|+|1|765|c.765_766insC|c.(766-768)tccfs|p.S256fs|0.4875|TGGCTGTGCTTCCTTCGTGT||||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471121|NM_001004478.1|NP_001004478.1|HGNC:14996|olfactory_%20_receptor_%20_family_%20_10_%20_subfamily_%20_Z_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"olfactory_%20_receptor_%2C__%20_family_%20_10_%2C__%20_subfamily_%20_Z_%2C__%20_member_%20_1"|||1q23.1|2015-12-09||2015-12-09|AB065635||128368|ENSG00000198967||NM_001004478|157|Olfactory_%20_receptors_%2C__%20_family_%20_10|CCDS30901|OTTHUMG00000019637|128368||NM_001004478|Q8NGY1|ENSG00000198967|uc010pio.2|O10Z1_HUMAN||Q5VYL0_%7C_Q6IFR7|Q8NGY1||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 158815534 indel.7712 A AAC . PASS FUNCOTATION=[MNDA|hg19|chr1|158815534|158815535|FRAME_SHIFT_INS||INS|-|-|AC|g.chr1:158815534_158815535insAC|ENST00000368141.4|+|5|989|c.728_729insAC|c.(727-729)aagfs|p.T244fs|0.395|TGGCCAGTAAGACTCAATAT||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||M81750|NM_002432.1|NP_002423.1|HGNC:7183|myeloid_%20_cell_%20_nuclear_%20_differentiation_%20_antigen|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||PYHIN3||1q23.1|2017-03-23|||BC032319||4332|ENSG00000163563|1644857_%2C__%20_7512843_%2C__%20_25665578|NM_002432|994_%7C_995|Pyrin_%20_domain_%20_containing_%7C_Pyrin_%20_and_%20_HIN_%20_domain_%20_family|CCDS1177|OTTHUMG00000022776|4332|159553|NM_002432|P41218|ENSG00000163563|uc001fsz.2|MNDA_HUMAN|||P41218|B_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050853)_%7C_cellular_%20_defense_%20_response_%20_(GO:0006968)_%7C_cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_proliferation_%20_(GO:0030889)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 159032484 exm113976 A C . PASS FUNCOTATION=[AIM2|hg19|chr1|159032484|159032484|NONSTOP||SNP|A|A|C|g.chr1:159032484A>C|ENST00000368130.4|-|6|1319|c.1030T>G|c.(1030-1032)Tag>Gag|p.*344E|0.38154613466334164|TTACTTCTCTATGTTTTTTTT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC010940|NM_004833.1|NP_004824.1|HGNC:357|absent_%20_in_%20_melanoma_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||PYHIN4||1q23.1-q23.2|2017-06-08|||AF024714||9447|ENSG00000163568|9242382_%2C__%20_25665578|NM_004833|995|Pyrin_%20_and_%20_HIN_%20_domain_%20_family|CCDS1181|OTTHUMG00000037183|9447|604578|NM_004833|O14862|ENSG00000163568|uc001ftj.2|AIM2_HUMAN||A8K7M7_%7C_Q5T3V9_%7C_Q96FG9|O14862|activation_%20_of_%20_innate_%20_immune_%20_response_%20_(GO:0002218)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_drug_%20_(GO:0035690)_%7C_cellular_%20_response_%20_to_%20_interferon-beta_%20_(GO:0035458)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_interleukin-1_%20_beta_%20_secretion_%20_(GO:0050702)_%7C_negative_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0032088)_%7C_nucleotide-binding_%20_domain_%2C__%20_leucine_%20_rich_%20_repeat_%20_containing_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0035872)_%7C_positive_%20_regulation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_(GO:2001056)_%7C_positive_%20_regulation_%20_of_%20_defense_%20_response_%20_to_%20_virus_%20_by_%20_host_%20_(GO:0002230)_%7C_positive_%20_regulation_%20_of_%20_interleukin-1_%20_beta_%20_production_%20_(GO:0032731)_%7C_positive_%20_regulation_%20_of_%20_interleukin-1_%20_beta_%20_secretion_%20_(GO:0050718)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_oligomerization_%20_(GO:0032461)_%7C_pyroptosis_%20_(GO:0070269)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|AIM2_%20_inflammasome_%20_complex_%20_(GO:0097169)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)|double-stranded_%20_DNA_%20_binding_%20_(GO:0003690)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 159796689 exm114535 A T . PASS FUNCOTATION=[SLAMF8|hg19|chr1|159796689|159796689|START_CODON_SNP||SNP|A|A|T|g.chr1:159796689A>T|ENST00000289707.5|+|1|150|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.5536159600997507|CCAGAGAAAGATGGTCATGAG|SLAMF8_ENST00000368104.4_START_CODON_SNP_p.M1L/SLAMF8_ENST00000471286.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC109194|NM_020125.2|NP_064510.1|HGNC:21391|SLAM_%20_family_%20_member_%20_8|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||BLAME_%2C__%20_SBBI42_%2C__%20_CD353||1q23.2|2016-10-05|||AF146761||56833|ENSG00000158714|11313408|NM_020125|471_%7C_594|CD_%20_molecules_%7C_Immunoglobulin_%20_like_%20_domain_%20_containing|CCDS1188_%2C__%20_CCDS81387|OTTHUMG00000035433|56833|606620|NM_020125|Q9P0V8|ENSG00000158714|uc001fue.5|SLAF8_HUMAN||Q32MC6_%7C_Q5VU15|Q9P0V8|cellular_%20_response_%20_to_%20_drug_%20_(GO:0035690)_%7C_defense_%20_response_%20_to_%20_bacterium_%20_(GO:0042742)_%7C_phagosome_%20_acidification_%20_(GO:0090383)_%7C_regulation_%20_of_%20_kinase_%20_activity_%20_(GO:0043549)_%7C_regulation_%20_of_%20_NAD(P)H_%20_oxidase_%20_activity_%20_(GO:0033860)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|receptor_%20_activity_%20_(GO:0004872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 160797604 exm116520 T G . PASS FUNCOTATION=[LY9|hg19|chr1|160797604|160797604|NONSTOP||SNP|T|T|G|g.chr1:160797604T>G|ENST00000263285.6|+|10|1996|c.1966T>G|c.(1966-1968)Tga>Gga|p.*656G|0.5087281795511222|AAATTTCACCTGAAAGGAAAA|LY9_ENST00000368037.5_NONSTOP_p.*642G/LY9_ENST00000392203.4_NONSTOP_p.*566G/LY9_ENST00000368040.1_NONSTOP_p.*271G/LY9_ENST00000368041.2_NONSTOP_p.*527G/LY9_ENST00000341032.4_NONSTOP_p.*522G|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||L42621|||HGNC:6730|lymphocyte_%20_antigen_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CD229_%2C__%20_mLY9_%2C__%20_SLAMF3_%2C__%20_hly9||1q23.3|2014-11-18|||L42621||4063|ENSG00000122224|8537117_%2C__%20_7797269|NM_002348|471_%7C_594|CD_%20_molecules_%7C_Immunoglobulin_%20_like_%20_domain_%20_containing|CCDS30916_%2C__%20_CCDS30917_%2C__%20_CCDS65695_%2C__%20_CCDS65696|OTTHUMG00000024007|4063|600684|NM_001033667|Q9HBG7|ENSG00000122224|uc001fwu.5|LY9_HUMAN||A8K7N3_%7C_Q14775_%7C_Q5VYI3_%7C_Q6P2J4_%7C_Q9H4N5_%7C_Q9NQ24|Q9HBG7|cell_%20_adhesion_%20_(GO:0007155)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|receptor_%20_activity_%20_(GO:0004872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 161677004 exm118314 A T . PASS FUNCOTATION=[FCRLA|hg19|chr1|161677004|161677004|START_CODON_SNP||SNP|A|A|T|g.chr1:161677004A>T|ENST00000236938.6|+|1|243|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.4488778054862843|GAGAGGTTTCATGTTGAAGAA|FCRLA_ENST00000367957.2_START_CODON_SNP_p.M1L/FCRLA_ENST00000367959.2_START_CODON_SNP_p.M1L/FCRLA_ENST00000546024.1_START_CODON_SNP_p.M1L/FCRLA_ENST00000540521.1_START_CODON_SNP_p.M1L/FCRLA_ENST00000367949.2_START_CODON_SNP_p.M1L/FCRLA_ENST00000350710.3_START_CODON_SNP_p.M1L/FCRLA_ENST00000540926.1_FIVE_PRIME_UTR/FCRLA_ENST00000294796.4_FIVE_PRIME_FLANK/FCRLA_ENST00000309691.6_FIVE_PRIME_FLANK/FCRLA_ENST00000349527.4_FIVE_PRIME_FLANK/FCRLA_ENST00000367950.1_FIVE_PRIME_FLANK/FCRLA_ENST00000367953.3_FIVE_PRIME_FLANK/FCRLA_ENST00000470841.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||EF064729|NM_032738.3|NP_116127.3|HGNC:18504|Fc_%20_receptor_%20_like_%20_A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FCRLM1|"Fc_%20_receptor-like_%20_and_%20_mucin-like_%20_1"_%2C__%20_"Fc_%20_receptor-like_%20_A"|MGC4595_%2C__%20_FCRLc2_%2C__%20_FCRLb_%2C__%20_FCRLc1_%2C__%20_FCRLd_%2C__%20_FCRLe_%2C__%20_FCRL_%2C__%20_FCRLa_%2C__%20_FREB_%2C__%20_FCRLX||1q23.3|2016-01-21|2006-09-26|2016-01-21|AF531423||84824|ENSG00000132185|11754007|NM_032738|594|Immunoglobulin_%20_like_%20_domain_%20_containing|CCDS30926_%2C__%20_CCDS53415_%2C__%20_CCDS53416_%2C__%20_CCDS53417_%2C__%20_CCDS53418_%2C__%20_CCDS53419_%2C__%20_CCDS53420|OTTHUMG00000034537|84824|606891|NM_001184866|Q7L513|ENSG00000132185|uc001gbd.4|FCRLA_HUMAN||A0N0M1_%7C_A6NC03_%7C_A6NL20_%7C_F5H720_%7C_F8W743_%7C_G3V1J2_%7C_Q5VXA1_%7C_Q5VXA2_%7C_Q5VXA3_%7C_Q5VXA4_%7C_Q5VXB0_%7C_Q5VXB1_%7C_Q8NEW4_%7C_Q8WXH3_%7C_Q96PC6_%7C_Q96PJ0_%7C_Q96PJ1_%7C_Q96PJ2_%7C_Q96PJ4_%7C_Q9BR57|Q7L513|cell_%20_differentiation_%20_(GO:0030154)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 161697451 exm118460 G C . PASS FUNCOTATION=[FCRLB|hg19|chr1|161697451|161697451|NONSTOP||SNP|G|G|C|g.chr1:161697451G>C|ENST00000367948.2|+|8|1495|c.1280G>C|c.(1279-1281)tGa>tCa|p.*427S|0.5635910224438903|GTGGAGAGCTGAGGGGGCGGC|FCRLB_ENST00000336830.5_THREE_PRIME_UTR/FCRLB_ENST00000367944.3_THREE_PRIME_UTR/FCRLB_ENST00000367946.3_THREE_PRIME_UTR/FCRLB_ENST00000367945.1_THREE_PRIME_UTR/FCRLB_ENST00000392158.1_NONSTOP_p.*427S/FCRLB_ENST00000495397.1_INTRON|||||||||||||||||||||||||22|central_nervous_system(22)|||||||EF064728|||HGNC:26431|Fc_%20_receptor_%20_like_%20_B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FCRLM2|"Fc_%20_receptor-like_%20_and_%20_mucin-like_%20_2"_%2C__%20_"Fc_%20_receptor-like_%20_B"|FLJ31052_%2C__%20_FCRL2_%2C__%20_FREB-2_%2C__%20_FCRLY||1q23.3|2016-01-21|2006-09-26|2016-01-21|AY670683||127943|ENSG00000162746|15676285|NM_152378|594|Immunoglobulin_%20_like_%20_domain_%20_containing|CCDS30927_%2C__%20_CCDS72962_%2C__%20_CCDS72963_%2C__%20_CCDS72964_%2C__%20_CCDS72965|OTTHUMG00000133629|127943|609251|NM_001002901|Q6BAA4|ENSG00000162746|uc001gbh.4|FCRLB_HUMAN||A2A3J5_%7C_A2A3J7_%7C_Q5VXA6_%7C_Q6BAA0_%7C_Q6BAA1_%7C_Q6BAA2_%7C_Q6BAA3_%7C_Q8IXZ7|Q6BAA4|negative_%20_regulation_%20_of_%20_immune_%20_response_%20_(GO:0050777)|cytoplasm_%20_(GO:0005737)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 165619079 exm119609 C T . PASS FUNCOTATION=[MGST3|hg19|chr1|165619079|165619079|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:165619079C>T|ENST00000367889.3|+|2|||||0.44389027431421446|CTTCCACAGACGCAAGATGGC|MGST3_ENST00000367884.2_DE_NOVO_START_OUT_FRAME/MGST3_ENST00000367888.4_DE_NOVO_START_OUT_FRAME/MGST3_ENST00000367883.1_SPLICE_SITE_p.R13C/MGST3_ENST00000367885.1_SPLICE_SITE_p.R13C/MGST3_ENST00000367886.2_SPLICE_SITE_p.R13C|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||DQ185045|NM_004528.3|NP_004519.1|HGNC:7064|microsomal_%20_glutathione_%20_S-transferase_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||GST-III|"microsomal_%20_glutathione_%20_S-transferase_%20_III"_%2C__%20_"microsomal_%20_GST-3"_%2C__%20_"microsomal_%20_GST-III"|1q24.1|2016-10-05|||AF026977|2.5.1.18|4259|ENSG00000143198|9278457|NM_004528|1469|Microsomal_%20_glutathione_%20_S-transferases|CCDS1249|OTTHUMG00000034627|4259|604564|NM_004528|O14880|ENSG00000143198|uc001gdf.4|MGST3_HUMAN|Glutathione(DB00143)|B2R592_%7C_Q6ICN4|O14880|glutathione_%20_derivative_%20_biosynthetic_%20_process_%20_(GO:1901687)_%7C_lipid_%20_metabolic_%20_process_%20_(GO:0006629)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_membrane_%20_(GO:0016020)_%7C_nuclear_%20_envelope_%20_(GO:0005635)|glutathione_%20_peroxidase_%20_activity_%20_(GO:0004602)_%7C_glutathione_%20_transferase_%20_activity_%20_(GO:0004364)_%7C_peroxidase_%20_activity_%20_(GO:0004601)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 165667795 exm119723 T G . PASS FUNCOTATION=[ALDH9A1|hg19|chr1|165667795|165667795|START_CODON_SNP||SNP|T|T|G|g.chr1:165667795T>G|ENST00000354775.4|-|1|306|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.6957605985037406|CGGAGAAACATGAGTGGCGGA|ALDH9A1_ENST00000538148.1_FIVE_PRIME_FLANK/RP11-466F5.6_ENST00000400982.2_FIVE_PRIME_FLANK/ALDH9A1_ENST00000461664.1_FIVE_PRIME_FLANK|Ovarian(179_%3B_1583_%20_2014_%20_18106_%20_33801_%20_42447)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X75425|NM_000696.3|NP_000687.3|HGNC:412|aldehyde_%20_dehydrogenase_%20_9_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH7_%2C__%20_ALDH4_%2C__%20_ALDH9|"aldehyde_%20_dehydrogenase_%20_9_%20_family_%2C__%20_member_%20_A1"|E3||1q24.1|2015-11-18||2015-11-18|U34252||223|ENSG00000143149|8112751_%2C__%20_8786138||398|Aldehyde_%20_dehydrogenases|CCDS1250|OTTHUMG00000034677|223|602733|NM_000696|P49189|ENSG00000143149|uc001gdh.2|AL9A1_HUMAN||B2R6X1_%7C_B4DXY7_%7C_Q5VV90_%7C_Q6LCL1_%7C_Q9NZT7|P49189|carnitine_%20_biosynthetic_%20_process_%20_(GO:0045329)_%7C_cellular_%20_aldehyde_%20_metabolic_%20_process_%20_(GO:0006081)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_hormone_%20_metabolic_%20_process_%20_(GO:0042445)_%7C_kidney_%20_development_%20_(GO:0001822)_%7C_liver_%20_development_%20_(GO:0001889)_%7C_neurotransmitter_%20_biosynthetic_%20_process_%20_(GO:0042136)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)|1-pyrroline_%20_dehydrogenase_%20_activity_%20_(GO:0033737)_%7C_3-chloroallyl_%20_aldehyde_%20_dehydrogenase_%20_activity_%20_(GO:0004028)_%7C_4-trimethylammoniobutyraldehyde_%20_dehydrogenase_%20_activity_%20_(GO:0047105)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_amine_%20_binding_%20_(GO:0043176)_%7C_aminobutyraldehyde_%20_dehydrogenase_%20_activity_%20_(GO:0019145)_%7C_NAD_%20_binding_%20_(GO:0051287)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 171154418 rs28369797 C T . PASS FUNCOTATION=[FMO2|hg19|chr1|171154418|171154418|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:171154418C>T|ENST00000209929.7|+|1|||||0.43640897755610975|CTCTTAAAAACGCTTCCAACT|FMO2_ENST00000441535.1_DE_NOVO_START_OUT_FRAME/FMO2_ENST00000529935.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Y09267|||HGNC:3770|flavin_%20_containing_%20_monooxygenase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"flavin_%20_containing_%20_monooxygenase_%20_2_%20_(non-functional)"|||1q24.3|2016-04-25||2015-11-04|BC005894||2327|ENSG00000094963|1417778_%2C__%20_9804831|NM_001460|||CCDS1293|OTTHUMG00000035504|2327|603955|NM_001301347|Q99518|ENSG00000094963|uc057ngi.1|FMO4_HUMAN||Q53XR0|P31512|drug_%20_catabolic_%20_process_%20_(GO:0042737)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|flavin_%20_adenine_%20_dinucleotide_%20_binding_%20_(GO:0050660)_%7C_N_%2C_N-dimethylaniline_%20_monooxygenase_%20_activity_%20_(GO:0004499)_%7C_NADP_%20_binding_%20_(GO:0050661)||||true|false|0.9882_%2C_._%2C_0.01178|false|false|1||false|true|false|FMO2:2327|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28369797|171154418|false|false|0|true|0|false|0.993028_%2C_._%2C_0.00697163|true|false|true|SNV|true|0x050110400005150537000100|1|false|125|rs28369797|] -chr1 171178090 exm123207 T C . PASS FUNCOTATION=[FMO2|hg19|chr1|171178090|171178090|NONSTOP||SNP|T|T|C|g.chr1:171178090T>C|ENST00000209929.7|+|9|1572|c.1414T>C|c.(1414-1416)Tag>Cag|p.*472Q|0.456359102244389|CAACTCCTATTAGTATCGCCT|FMO2_ENST00000441535.1_NONSTOP_p.*472Q/RP1-127D3.4_ENST00000422841.1_RNA/RP1-127D3.4_ENST00000445909.1_RNA/RP1-127D3.4_ENST00000445290.1_RNA/FMO2_ENST00000529935.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Y09267|||HGNC:3770|flavin_%20_containing_%20_monooxygenase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"flavin_%20_containing_%20_monooxygenase_%20_2_%20_(non-functional)"|||1q24.3|2016-04-25||2015-11-04|BC005894||2327|ENSG00000094963|1417778_%2C__%20_9804831|NM_001460|||CCDS1293|OTTHUMG00000035504|2327|603955|NM_001301347|Q99518|ENSG00000094963|uc057ngi.1|FMO4_HUMAN||Q53XR0|P31512|drug_%20_catabolic_%20_process_%20_(GO:0042737)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|flavin_%20_adenine_%20_dinucleotide_%20_binding_%20_(GO:0050660)_%7C_N_%2C_N-dimethylaniline_%20_monooxygenase_%20_activity_%20_(GO:0004499)_%7C_NADP_%20_binding_%20_(GO:0050661)||||true|false|0.9537_%2C_0.04633|false|false|1||false|true|false|FMO2:2327|true|true|false|true|true|false|false|false|false|false|false|false|true|false|false|true|true|false|false|true|6661174|171178090|false|false|0|true|0|false||false|true|false|SNV|true|0x05012880060515053f000100|1|false|116|rs6661174|] -chr1 171178090 rs6661174 T C . PASS FUNCOTATION=[FMO2|hg19|chr1|171178090|171178090|NONSTOP||SNP|T|T|C|g.chr1:171178090T>C|ENST00000209929.7|+|9|1572|c.1414T>C|c.(1414-1416)Tag>Cag|p.*472Q|0.456359102244389|CAACTCCTATTAGTATCGCCT|FMO2_ENST00000441535.1_NONSTOP_p.*472Q/RP1-127D3.4_ENST00000422841.1_RNA/RP1-127D3.4_ENST00000445909.1_RNA/RP1-127D3.4_ENST00000445290.1_RNA/FMO2_ENST00000529935.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Y09267|||HGNC:3770|flavin_%20_containing_%20_monooxygenase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"flavin_%20_containing_%20_monooxygenase_%20_2_%20_(non-functional)"|||1q24.3|2016-04-25||2015-11-04|BC005894||2327|ENSG00000094963|1417778_%2C__%20_9804831|NM_001460|||CCDS1293|OTTHUMG00000035504|2327|603955|NM_001301347|Q99518|ENSG00000094963|uc057ngi.1|FMO4_HUMAN||Q53XR0|P31512|drug_%20_catabolic_%20_process_%20_(GO:0042737)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|flavin_%20_adenine_%20_dinucleotide_%20_binding_%20_(GO:0050660)_%7C_N_%2C_N-dimethylaniline_%20_monooxygenase_%20_activity_%20_(GO:0004499)_%7C_NADP_%20_binding_%20_(GO:0050661)||||true|false|0.9537_%2C_0.04633|false|false|1||false|true|false|FMO2:2327|true|true|false|true|true|false|false|false|false|false|false|false|true|false|false|true|true|false|false|true|6661174|171178090|false|false|0|true|0|false||false|true|false|SNV|true|0x05012880060515053f000100|1|false|116|rs6661174|] -chr1 175046557 exm125033 G T . PASS FUNCOTATION=[TNN|hg19|chr1|175046557|175046557|START_CODON_SNP||SNP|G|G|T|g.chr1:175046557G>T|ENST00000239462.4|+|2|116|c.3G>T|c.(1-3)atG>atT|p.M1I|0.5336658354114713|TTCCAAGGATGAGTCTCCAGG||||||||||||||||||||||||||141|biliary_tract(2)_%7C_breast(33)_%7C_central_nervous_system(44)_%7C_large_intestine(35)_%7C_lung(4)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||Z99715|NM_022093.1|NP_071376.1|HGNC:22942|tenascin_%20_N|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q25.1|2016-10-05|||AK127044||63923|ENSG00000120332||XM_040527|555_%7C_554|Fibronectin_%20_type_%20_III_%20_domain_%20_containing_%7C_Fibrinogen_%20_C_%20_domain_%20_containing|CCDS30943|OTTHUMG00000034882|63923|617472|NM_022093|Q9UQP3|ENSG00000120332|uc001gkl.1|TENN_HUMAN||B9EGP3_%7C_Q5R360|Q9UQP3|axonogenesis_%20_(GO:0007409)_%7C_cell_%20_growth_%20_(GO:0016049)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_cell-matrix_%20_adhesion_%20_(GO:0007160)|cell_%20_surface_%20_(GO:0009986)_%7C_proteinaceous_%20_extracellular_%20_matrix_%20_(GO:0005578)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 175116207 exm125284 A G . PASS FUNCOTATION=[TNN|hg19|chr1|175116207|175116207|NONSTOP||SNP|A|A|G|g.chr1:175116207A>G|ENST00000239462.4|+|19|4013|c.3900A>G|c.(3898-3900)tgA>tgG|p.*1300W|0.5361596009975063|GAACGTTCTGATGGCCCGTGT||||||||||||||||||||||||||141|biliary_tract(2)_%7C_breast(33)_%7C_central_nervous_system(44)_%7C_large_intestine(35)_%7C_lung(4)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||Z99715|NM_022093.1|NP_071376.1|HGNC:22942|tenascin_%20_N|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q25.1|2016-10-05|||AK127044||63923|ENSG00000120332||XM_040527|555_%7C_554|Fibronectin_%20_type_%20_III_%20_domain_%20_containing_%7C_Fibrinogen_%20_C_%20_domain_%20_containing|CCDS30943|OTTHUMG00000034882|63923|617472|NM_022093|Q9UQP3|ENSG00000120332|uc001gkl.1|TENN_HUMAN||B9EGP3_%7C_Q5R360|Q9UQP3|axonogenesis_%20_(GO:0007409)_%7C_cell_%20_growth_%20_(GO:0016049)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_cell-matrix_%20_adhesion_%20_(GO:0007160)|cell_%20_surface_%20_(GO:0009986)_%7C_proteinaceous_%20_extracellular_%20_matrix_%20_(GO:0005578)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 182027144 exm129006 A T . PASS FUNCOTATION=[ZNF648|hg19|chr1|182027144|182027144|START_CODON_SNP||SNP|A|A|T|g.chr1:182027144A>T|ENST00000339948.3|-|2|210|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.513715710723192|CACTTGTGCCATGATGTTCAG||NSCLC(71_%3B_908_%20_1374_%20_5429_%20_20458_%20_35642)||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC137224|NM_001009992.1|NP_001009992.1|HGNC:18190|zinc_%20_finger_%20_protein_%20_648|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ46813||1q25.3|2015-09-10|||AK128654||127665|ENSG00000179930||XM_060597|28|Zinc_%20_fingers_%20_C2H2-type|CCDS30952|OTTHUMG00000037302|127665||NM_001009992|Q5T619|ENSG00000179930|uc001goz.3|ZN648_HUMAN||B2RP16|Q5T619|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 182555939 newrs74315365 C T . PASS FUNCOTATION=[RNASEL|hg19|chr1|182555939|182555939|START_CODON_SNP||SNP|C|C|T|g.chr1:182555939C>T|ENST00000367559.3|-|2|257|c.3G>A|c.(1-3)atG>atA|p.M1I|0.46384039900249374|CCCTGCTCTCCATGACGGTAA|RNASEL_ENST00000444138.1_START_CODON_SNP_p.M1I/RNASEL_ENST00000539397.1_START_CODON_SNP_p.M1I|||||||||||||||||||||||||574|biliary_tract(2)_%7C_breast(27)_%7C_central_nervous_system(60)_%7C_haematopoietic_and_lymphoid_tissue(54)_%7C_kidney(46)_%7C_large_intestine(71)_%7C_lung(52)_%7C_ovary(52)_%7C_pancreas(22)_%7C_stomach(175)_%7C_testis(13)|||||||L10381|NM_021133.3|NP_066956.1|HGNC:10050|ribonuclease_%20_L|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|RNS4_%2C__%20_PRCA1|"prostate_%20_cancer_%20_1"_%2C__%20_"ribonuclease_%20_L_%20_(2'_%2C_5'-oligoisoadenylate_%20_synthetase-dependent)"|||1q25.3|2016-10-05||2016-01-25|L10381|3.1.26.-|6041|ENSG00000135828|7514564|NM_021133|403|Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS1347|OTTHUMG00000035213|6041|180435|NM_021133|Q05823|ENSG00000135828|uc009wxz.3|RN5A_HUMAN||Q5W0L2_%7C_Q6AI46|Q05823|cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_defense_%20_response_%20_to_%20_virus_%20_(GO:0051607)_%7C_mRNA_%20_processing_%20_(GO:0006397)_%7C_negative_%20_regulation_%20_of_%20_viral_%20_genome_%20_replication_%20_(GO:0045071)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_RNA_%20_phosphodiester_%20_bond_%20_hydrolysis_%2C__%20_endonucleolytic_%20_(GO:0090502)_%7C_rRNA_%20_processing_%20_(GO:0006364)_%7C_type_%20_I_%20_interferon_%20_signaling_%20_pathway_%20_(GO:0060337)|cytosol_%20_(GO:0005829)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nuclear_%20_matrix_%20_(GO:0016363)|ATP_%20_binding_%20_(GO:0005524)_%7C_endoribonuclease_%20_activity_%20_(GO:0004521)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_RNA_%20_binding_%20_(GO:0003723)_%7C_rRNA_%20_binding_%20_(GO:0019843)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 196670459 exm133400 T C . PASS FUNCOTATION=[CFH|hg19|chr1|196670459|196670459|NONSTOP||SNP|T|T|C|g.chr1:196670459T>C|ENST00000359637.2|+|9|1218|c.1156T>C|c.(1156-1158)Tga>Cga|p.*386R|0.44389027431421446|CTTTACCCTCTGAACTTCTGA|CFH_ENST00000367429.4_INTRON/CFH_ENST00000439155.2_NONSTOP_p.*450R|||||||||||||||||||||||||524|biliary_tract(2)_%7C_breast(186)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL049744|||HGNC:4883|complement_%20_factor_%20_H|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HF_%2C__%20_HF1_%2C__%20_HF2|"H_%20_factor_%20_1_%20_(complement)"|HUS_%2C__%20_FHL1_%2C__%20_ARMS1_%2C__%20_ARMD4|"beta-1H"_%2C__%20_"H_%20_factor_%20_2_%20_(complement)"_%2C__%20_"age-related_%20_maculopathy_%20_susceptibility_%20_1"|1q31.3|2017-03-24|2004-08-12|2004-08-09|Y00716||3075|ENSG00000000971|2889480_%2C__%20_2963625|NM_000186|1179_%7C_492|Sushi_%20_domain_%20_containing_%7C_Complement_%20_system|CCDS1385_%2C__%20_CCDS53452|OTTHUMG00000035607|3075|134370|NM_000186|P08603|ENSG00000000971|uc001gtj.4|CFAH_HUMAN||A5PL14_%7C_P78435_%7C_Q14570_%7C_Q2TAZ5_%7C_Q38G77_%7C_Q5TFM3_%7C_Q8N708_%7C_Q9NU86|P08603|complement_%20_activation_%20_(GO:0006956)_%7C_complement_%20_activation_%2C__%20_alternative_%20_pathway_%20_(GO:0006957)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_regulation_%20_of_%20_complement_%20_activation_%20_(GO:0030449)|blood_%20_microparticle_%20_(GO:0072562)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|heparan_%20_sulfate_%20_proteoglycan_%20_binding_%20_(GO:0043395)_%7C_heparin_%20_binding_%20_(GO:0008201)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 197057491 indel.9105 T TCC . PASS FUNCOTATION=[ASPM|hg19|chr1|197057491|197057492|FRAME_SHIFT_INS||INS|-|-|CC|g.chr1:197057491_197057492insCC|ENST00000367409.4|-|26|10313|c.10055_10056insGG|c.(10054-10056)atafs|p.I3352fs|0.3175|TTCTCGGTATATCTGCAAAA|ASPM_ENST00000367408.1_FRAME_SHIFT_INS_p.I1017fs/ASPM_ENST00000294732.7_FRAME_SHIFT_INS_p.I1767fs|||||||||||||||||||||||||344|biliary_tract(2)_%7C_breast(14)_%7C_central_nervous_system(44)_%7C_genital_tract(91)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)_%7C_testis(65)_%7C_upper_aerodigestive_tract(1)|||||||CH471067|NM_018136.4|NP_060606.3|HGNC:19048|abnormal_%20_spindle_%20_microtubule_%20_assembly|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MCPH5|"microcephaly_%2C__%20_primary_%20_autosomal_%20_recessive_%20_5"_%2C__%20_"asp_%20_(abnormal_%20_spindle)-like_%2C__%20_microcephaly_%20_associated_%20_(Drosophila)"_%2C__%20_"asp_%20_(abnormal_%20_spindle)_%20_homolog_%2C__%20_microcephaly_%20_associated_%20_(Drosophila)"|Calmbp1_%2C__%20_ASP_%2C__%20_FLJ10517_%2C__%20_FLJ10549||1q31.3|2016-10-05||2015-08-14|AY367065||259266|ENSG00000066279|11078481|NM_018136|||CCDS1389_%2C__%20_CCDS55672|OTTHUMG00000036277|259266|605481|NM_001206846|Q8IZT6|ENSG00000066279|uc001gtu.4|ASPM_HUMAN||Q4G1H1_%7C_Q5VYL3_%7C_Q86UX4_%7C_Q8IUL2_%7C_Q8IZJ7_%7C_Q8IZJ8_%7C_Q8IZJ9_%7C_Q8N4D1_%7C_Q9NVS1_%7C_Q9NVT6|Q8IZT6|developmental_%20_growth_%20_(GO:0048589)_%7C_forebrain_%20_neuroblast_%20_division_%20_(GO:0021873)_%7C_maintenance_%20_of_%20_centrosome_%20_location_%20_(GO:0051661)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_negative_%20_regulation_%20_of_%20_asymmetric_%20_cell_%20_division_%20_(GO:0045769)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_differentiation_%20_(GO:0045665)_%7C_neuron_%20_migration_%20_(GO:0001764)_%7C_oogenesis_%20_(GO:0048477)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_positive_%20_regulation_%20_of_%20_neuroblast_%20_proliferation_%20_(GO:0002052)_%7C_spermatogenesis_%20_(GO:0007283)|cytoplasm_%20_(GO:0005737)_%7C_midbody_%20_(GO:0030496)_%7C_nucleus_%20_(GO:0005634)_%7C_spindle_%20_pole_%20_(GO:0000922)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 207700162 indel.9720 A AAGAT . PASS FUNCOTATION=[CR1|hg19|chr1|207700162|207700163|FRAME_SHIFT_INS||INS|-|-|AGAT|g.chr1:207700162_207700163insAGAT|ENST00000367049.4|+|6|951|c.951_952insAGAT|c.(952-954)cctfs|p.P318fs|0.445|CAACTTTTCACCTGGGCAGG|CR1_ENST00000367052.1_FRAME_SHIFT_INS_p.P318fs/CR1_ENST00000367053.1_FRAME_SHIFT_INS_p.P318fs/CR1_ENST00000400960.2_FRAME_SHIFT_INS_p.P318fs/CR1_ENST00000367051.1_INTRON/CR1_ENST00000367050.4_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M31241|NM_000651.4|NP_000642.3|HGNC:2334|complement_%20_C3b/C4b_%20_receptor_%20_1_%20_(Knops_%20_blood_%20_group)|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"complement_%20_component_%20_(3b/4b)_%20_receptor_%20_1_%2C__%20_including_%20_Knops_%20_blood_%20_group_%20_system"_%2C__%20_"complement_%20_component_%20_(3b/4b)_%20_receptor_%20_1_%20_(Knops_%20_blood_%20_group)"_%2C__%20_"complement_%20_component_%20_3b/4b_%20_receptor_%20_1_%20_(Knops_%20_blood_%20_group)"|CD35_%2C__%20_KN||1q32.2|2017-03-24||2016-08-10|Y00816||1378|ENSG00000203710|1708809|NM_000573|1179_%7C_492_%7C_471_%7C_454|Sushi_%20_domain_%20_containing_%7C_Complement_%20_system_%7C_CD_%20_molecules_%7C_Blood_%20_group_%20_antigens|CCDS44308_%2C__%20_CCDS44309|OTTHUMG00000036311|1378|120620|NM_000573|P17927|ENSG00000203710|uc001hfx.4|CR1_HUMAN||Q16744_%7C_Q16745_%7C_Q5SR43_%7C_Q5SR45_%7C_Q9UQV2|P17927|complement_%20_activation_%2C__%20_classical_%20_pathway_%20_(GO:0006958)_%7C_complement_%20_receptor_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0002430)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_negative_%20_regulation_%20_of_%20_complement_%20_activation_%2C__%20_alternative_%20_pathway_%20_(GO:0045957)_%7C_negative_%20_regulation_%20_of_%20_complement_%20_activation_%2C__%20_classical_%20_pathway_%20_(GO:0045959)_%7C_negative_%20_regulation_%20_of_%20_serine-type_%20_endopeptidase_%20_activity_%20_(GO:1900004)_%7C_positive_%20_regulation_%20_of_%20_serine-type_%20_endopeptidase_%20_activity_%20_(GO:1900005)_%7C_regulation_%20_of_%20_complement_%20_activation_%20_(GO:0030449)|cell_%20_surface_%20_(GO:0009986)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_plasma_%20_membrane_%20_(GO:0005886)|complement_%20_component_%20_C3b_%20_binding_%20_(GO:0001851)_%7C_complement_%20_component_%20_C3b_%20_receptor_%20_activity_%20_(GO:0004877)_%7C_complement_%20_component_%20_C4b_%20_binding_%20_(GO:0001855)_%7C_complement_%20_component_%20_C4b_%20_receptor_%20_activity_%20_(GO:0001861)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 209849340 exm145908 A G . PASS FUNCOTATION=[G0S2|hg19|chr1|209849340|209849340|NONSTOP||SNP|A|A|G|g.chr1:209849340A>G|ENST00000367029.4|+|2|473|c.311A>G|c.(310-312)tAg>tGg|p.*104W|0.6309226932668329|CACGCCTCCTAGGAACTGTGG|RP1-28O10.1_ENST00000441672.1_RNA/RP1-28O10.1_ENST00000445272.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M72885|NM_015714.3|NP_056529.1|HGNC:30229|G0/G1_%20_switch_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"G0/G1switch_%20_2"||"putative_%20_lymphocyte_%20_G0/G1_%20_switch_%20_gene"|1q32.2|2014-11-18||2014-04-22|||50486|ENSG00000123689|1930693_%2C__%20_10645953|NM_015714|||CCDS1488|OTTHUMG00000036479|50486|614447|NM_015714|P27469|ENSG00000123689|uc001hhi.5|G0S2_HUMAN||Q6FGC8|P27469|cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097191)_%7C_positive_%20_regulation_%20_of_%20_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001238)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|lipid_%20_particle_%20_(GO:0005811)_%7C_mitochondrion_%20_(GO:0005739)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 209932121 rs10489341 C T . PASS FUNCOTATION=[TRAF3IP3|hg19|chr1|209932121|209932121|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:209932121C>T|ENST00000367024.1|+|1|||||0.5236907730673317|GAATTTCCAACGCTCAGGATC|TRAF3IP3_ENST00000367025.3_INTRON/TRAF3IP3_ENST00000367026.3_INTRON/TRAF3IP3_ENST00000400959.3_INTRON/TRAF3IP3_ENST00000010338.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||247|biliary_tract(2)_%7C_breast(49)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471100|||HGNC:30766|TRAF3_%20_interacting_%20_protein_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||T3JAM|"TRAF3_%20_interacting_%20_Jun_%20_N_%20_terminal_%20_kinase_%20_(JNK)_%20_activating_%20_modulator"|1q32.2|2016-10-05|||||80342|ENSG00000009790|14572659||||CCDS1490_%2C__%20_CCDS73023_%2C__%20_CCDS81422|OTTHUMG00000036480|80342|608255|NM_001287754|Q9Y228|ENSG00000009790|uc001hho.5|T3JAM_HUMAN||A1L464_%7C_A6NIU9_%7C_Q2YDB5_%7C_Q4VY06_%7C_Q7Z706|Q9Y228||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.8838_%2C_0.1162|false|false|1||false|true|false|TRAF3IP3:80342|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|10489341|209932121|false|false|0|true|0|false|0.849876_%2C_0.150124|false|false|true|SNV|true|0x05012848000515053f000100|1|false|119|rs10489341|] -chr1 217804722 exm149634 T C . PASS FUNCOTATION=[SPATA17|hg19|chr1|217804722|217804722|START_CODON_SNP||SNP|T|T|C|g.chr1:217804722T>C|ENST00000366933.4|+|1|57|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.43640897755610975|CAAGAGACCATGGCCACGTTA|GPATCH2_ENST00000366934.3_FIVE_PRIME_FLANK/GPATCH2_ENST00000366935.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471100|NM_138796.2|NP_620151.1|HGNC:25184|spermatogenesis_%20_associated_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||IQCH|"IQ_%20_motif_%20_containing_%20_H"|1q41|2014-11-19|||AK098591||128153|ENSG00000162814|16395525|NM_138796|||CCDS1519|OTTHUMG00000037875|128153|611032|NM_138796|Q96L03|ENSG00000162814|uc001hlh.2|SPT17_HUMAN||A5D6N2|Q96L03||cytoplasm_%20_(GO:0005737)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 225586971 exm152734 A T . PASS FUNCOTATION=[DNAH14|hg19|chr1|225586971|225586971|NONSTOP||SNP|A|A|T|g.chr1:225586971A>T|ENST00000445597.2|+|61|10524|c.10524A>T|c.(10522-10524)taA>taT|p.*3508Y|0.3790523690773067|ATGAAAAATAAATGTCCATAT|DNAH14_ENST00000439375.2_NONSTOP_p.*4516Y/DNAH14_ENST00000430092.1_NONSTOP_p.*4516Y|||||||||||||||||||||||||23|central_nervous_system(23)|||||||CH471098|||HGNC:2945|dynein_%20_axonemal_%20_heavy_%20_chain_%20_14|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf67|"dynein_%2C__%20_axonemal_%2C__%20_heavy_%20_polypeptide_%20_14"_%2C__%20_"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_67"|Dnahc14_%2C__%20_HL-18_%2C__%20_HL18_%2C__%20_DKFZp781B1548_%2C__%20_MGC27277||1q42.12|2016-10-05||2016-03-02|U61741||127602|ENSG00000185842|8812413|XM_059166|536|Dyneins_%2C__%20_axonemal|CCDS41472_%2C__%20_CCDS44322|OTTHUMG00000037447|127602|603341|NM_001145154|Q0VDD8|ENSG00000185842|uc001how.3|DYH14_HUMAN||A6NG62_%7C_A6NNL2_%7C_Q0VDD9_%7C_Q4VXC7_%7C_Q4VXG4_%7C_Q4VXG5_%7C_Q5VU33_%7C_Q5VU34|Q0VDD8|microtubule-based_%20_movement_%20_(GO:0007018)|cilium_%20_(GO:0005929)_%7C_cytoplasm_%20_(GO:0005737)_%7C_dynein_%20_complex_%20_(GO:0030286)_%7C_microtubule_%20_(GO:0005874)|ATP_%20_binding_%20_(GO:0005524)_%7C_microtubule_%20_motor_%20_activity_%20_(GO:0003777)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 228295961 exm154986 T G . PASS FUNCOTATION=[MRPL55|hg19|chr1|228295961|228295961|START_CODON_SNP||SNP|T|T|G|g.chr1:228295961T>G|ENST00000411464.2|-|3|795|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.5536159600997507|ACGGCCGCCATTCCTCCTTAC|MRPL55_ENST00000366735.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366734.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366733.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000336520.3_START_CODON_SNP_p.M1L/MRPL55_ENST00000366744.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000336300.5_START_CODON_SNP_p.M1L/MRPL55_ENST00000348259.5_START_CODON_SNP_p.M1L/MRPL55_ENST00000366736.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366740.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366739.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000295008.4_START_CODON_SNP_p.M1L/MRPL55_ENST00000366742.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366741.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366747.3_START_CODON_SNP_p.M1L/MRPL55_ENST00000366746.3_START_CODON_SNP_p.M1L/MRPL55_ENST00000366732.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366738.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000391867.3_START_CODON_SNP_p.M1L/MRPL55_ENST00000366731.5_START_CODON_SNP_p.M1L/MRPL55_ENST00000430433.1_START_CODON_SNP_p.M1L/C1orf35_ENST00000272139.4_FIVE_PRIME_FLANK/MRPL55_ENST00000465397.1_INTRON/C1orf35_ENST00000472617.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC052806|||HGNC:16686|mitochondrial_%20_ribosomal_%20_protein_%20_L55|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q42.13|2015-08-25|||AK056987||128308|ENSG00000162910||XM_059233|646|Mitochondrial_%20_ribosomal_%20_proteins|CCDS1567_%2C__%20_CCDS44325|OTTHUMG00000037965|128308|611859|NM_001321284|Q7Z7F7|ENSG00000162910|uc001hsa.5|RM55_HUMAN||Q5TBY3_%7C_Q5TBY6_%7C_Q6UWI8|Q7Z7F7|translation_%20_(GO:0006412)|mitochondrial_%20_large_%20_ribosomal_%20_subunit_%20_(GO:0005762)|structural_%20_constituent_%20_of_%20_ribosome_%20_(GO:0003735)||||true|false||false|false|||false|false|false|MRPL55:128308|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|140581823|228295961|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs140581823|] -chr1 228296020 variant.10429 C A . PASS FUNCOTATION=[MRPL55|hg19|chr1|228296020|228296020|DE_NOVO_START_IN_FRAME||SNP|C|C|A|g.chr1:228296020C>A|ENST00000366735.1|-|1|||||0.5286783042394015|GGCGTGCAACCTGCTAGGCAG|MRPL55_ENST00000366734.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366740.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366742.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000411464.2_SPLICE_SITE/MRPL55_ENST00000366733.1_SPLICE_SITE/MRPL55_ENST00000336520.3_SPLICE_SITE/MRPL55_ENST00000366744.1_SPLICE_SITE/MRPL55_ENST00000336300.5_SPLICE_SITE/MRPL55_ENST00000348259.5_SPLICE_SITE/MRPL55_ENST00000366736.1_SPLICE_SITE/MRPL55_ENST00000366739.1_SPLICE_SITE/MRPL55_ENST00000295008.4_SPLICE_SITE/MRPL55_ENST00000366741.1_SPLICE_SITE/MRPL55_ENST00000366747.3_SPLICE_SITE/MRPL55_ENST00000366746.3_SPLICE_SITE/MRPL55_ENST00000366732.1_SPLICE_SITE/MRPL55_ENST00000366738.1_SPLICE_SITE/MRPL55_ENST00000391867.3_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366731.5_SPLICE_SITE/MRPL55_ENST00000430433.1_SPLICE_SITE/C1orf35_ENST00000272139.4_FIVE_PRIME_FLANK/MRPL55_ENST00000465397.1_SPLICE_SITE/C1orf35_ENST00000472617.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC052806|||HGNC:16686|mitochondrial_%20_ribosomal_%20_protein_%20_L55|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q42.13|2015-08-25|||AK056987||128308|ENSG00000162910||XM_059233|646|Mitochondrial_%20_ribosomal_%20_proteins|CCDS1567_%2C__%20_CCDS44325|OTTHUMG00000037965|128308|611859|NM_001321284|Q7Z7F7|ENSG00000162910|uc001hsa.5|RM55_HUMAN||Q5TBY3_%7C_Q5TBY6_%7C_Q6UWI8|Q7Z7F7|translation_%20_(GO:0006412)|mitochondrial_%20_large_%20_ribosomal_%20_subunit_%20_(GO:0005762)|structural_%20_constituent_%20_of_%20_ribosome_%20_(GO:0003735)||||true|true||false|false|||false|false|false|MRPL55:128308|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|868542799|228296020|false|false|0|false|0|false|0.999931_%2C_6.86908e-005|false|false|true|SNV|false|0x050000600005000402000100|1|false|147|rs868542799|] -chr1 230979415 exm158328 C A . PASS FUNCOTATION=[C1orf198|hg19|chr1|230979415|230979415|DE_NOVO_START_OUT_FRAME||SNP|C|C|A|g.chr1:230979415C>A|ENST00000427697.2|-|3|||||0.6458852867830424|GGAACTCGGCCTCAGGCCCCT|C1orf198_ENST00000366663.5_MISSENSE_p.E204D/C1orf198_ENST00000470540.1_MISSENSE_p.E166D/C1orf198_ENST00000523410.1_MISSENSE_p.E74D|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL118511|||HGNC:25900|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_198|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ14525_%2C__%20_MGC10710_%2C__%20_FLJ16283_%2C__%20_DKFZp667D152_%2C__%20_FLJ38847||1q42.2|2017-08-01|||BC066649||84886|ENSG00000119280||NM_032800|||CCDS1587_%2C__%20_CCDS44330_%2C__%20_CCDS44331|OTTHUMG00000037790|84886||NM_001136494|Q9H425|ENSG00000119280|uc001hub.4|CA198_HUMAN||A8K8R8_%7C_B3KTW1_%7C_G5EA08|Q9H425||cytoplasm_%20_(GO:0005737)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 232651063 indel.10724 T TAGAA . PASS FUNCOTATION=[SIPA1L2|hg19|chr1|232651063|232651064|FRAME_SHIFT_INS||INS|-|-|AGAA|g.chr1:232651063_232651064insAGAA|ENST00000366630.1|-|2|382|c.22_23insTTCT|c.(22-24)caafs|p.Q8fs|0.4425|TTCTCTTCTTGTGACTGCCT|SIPA1L2_ENST00000262861.4_FRAME_SHIFT_INS_p.Q8fs|||||||||||||||||||||||||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(45)_%7C_large_intestine(11)_%7C_lung(1)_%7C_oesophagus(7)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(2)|||||||CH471098|||HGNC:23800|signal_%20_induced_%20_proliferation_%20_associated_%20_1_%20_like_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"signal-induced_%20_proliferation-associated_%20_1_%20_like_%20_2"|KIAA1389||1q42.2|2016-04-05||2016-04-05|AB037810||57568|ENSG00000116991||XM_045839|1220|PDZ_%20_domain_%20_containing|CCDS41474|OTTHUMG00000037820|57568|611609|NM_020808|Q9P2F8|ENSG00000116991|uc001hvg.4|SI1L2_HUMAN||Q2TV88_%7C_Q5VXR7_%7C_Q5VXR8_%7C_Q641Q4_%7C_Q8NA38_%7C_Q96DZ3_%7C_Q9H9F6|Q9P2F8|regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)||GTPase_%20_activator_%20_activity_%20_(GO:0005096)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 232940993 indel.10725 C CCAAAGCAG . PASS FUNCOTATION=[MAP10|hg19|chr1|232940993|232940994|FRAME_SHIFT_INS||INS|-|-|CAAAGCAG|g.chr1:232940993_232940994insCAAAGCAG|ENST00000418460.1|+|1|351|c.224_225insCAAAGCAG|c.(223-225)gctfs|p.H76fs|0.4925|AAAAAACGGCTCACAAGTAT||||||||||||||||||||||||||||||||||BC109122|NM_019090.2|NP_061963.2|HGNC:29265|microtubule_%20_associated_%20_protein_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA1383|"KIAA1383"|MTR120|"microtubule_%20_regulator_%20_120_%20_KDa"|1q42.2|2015-11-16|2013-02-12|2015-11-16|AB037804||54627|ENSG00000212916|23264731|NM_019090|||CCDS44334|OTTHUMG00000037819|54627||NM_019090|Q9P2G4|ENSG00000212916|uc001hvh.3|MAP10_HUMAN||A8K2F1_%7C_Q32MI1_%7C_Q58EZ9_%7C_Q5VV83|Q9P2G4|cytoplasmic_%20_microtubule_%20_organization_%20_(GO:0031122)_%7C_positive_%20_regulation_%20_of_%20_cytokinesis_%20_(GO:0032467)_%7C_regulation_%20_of_%20_microtubule-based_%20_process_%20_(GO:0032886)_%7C_spindle_%20_midzone_%20_assembly_%20_involved_%20_in_%20_mitosis_%20_(GO:0051256)|centrosome_%20_(GO:0005813)_%7C_cytoplasmic_%20_microtubule_%20_(GO:0005881)_%7C_midbody_%20_(GO:0030496)_%7C_mitotic_%20_spindle_%20_midzone_%20_(GO:1990023)_%7C_mitotic_%20_spindle_%20_pole_%20_(GO:0097431)|microtubule_%20_binding_%20_(GO:0008017)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 235295173 indel.10810 G GTA . PASS FUNCOTATION=[RBM34|hg19|chr1|235295173|235295174|FRAME_SHIFT_INS||INS|-|-|TA|g.chr1:235295173_235295174insTA|ENST00000408888.3|-|11|1379|c.1147_1148insTA|c.(1147-1149)cctfs|p.P383fs|0.3475|CCCTGCTTAGGTTTACTGAC|RBM34_ENST00000366606.3_FRAME_SHIFT_INS_p.P378fs/TOMM20_ENST00000366607.4_FIVE_PRIME_FLANK/RBM34_ENST00000495224.1_INTRON/SNORA14B_ENST00000384452.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||46|biliary_tract(2)_%7C_central_nervous_system(22)_%7C_pancreas(22)|||||||D38491|||HGNC:28965|RNA_%20_binding_%20_motif_%20_protein_%20_34|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA0117||1q42.3|2016-04-25|||||23029|ENSG00000188739|7788527_%2C__%20_15134903|NM_015014|725|RNA_%20_binding_%20_motif_%20_containing|CCDS41477|OTTHUMG00000039620|23029||NM_015014|P42696|ENSG00000188739|uc001hwn.3|RBM34_HUMAN||A8K8J7_%7C_Q8N2Z8_%7C_Q9H5A1|P42696||nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)|nucleotide_%20_binding_%20_(GO:0000166)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 241755453 exm163712 T C . PASS FUNCOTATION=[KMO|hg19|chr1|241755453|241755453|NONSTOP||SNP|T|T|C|g.chr1:241755453T>C|ENST00000366559.4|+|15|1770|c.1459T>C|c.(1459-1461)Tga>Cga|p.*487R|0.39650872817955113|CATTAGCAGGTGATAGAAAGG|KMO_ENST00000366557.4_NONSTOP_p.*453R/KMO_ENST00000366558.3_NONSTOP_p.*474R|||||||||||||||||||||||||379|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(289)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Y13153|NM_003679.4|NP_003670.2|HGNC:6381|kynurenine_%20_3-monooxygenase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kynurenine_%20_3-monooxygenase_%20_(kynurenine_%20_3-hydroxylase)"||"kynurenine_%20_3-hydroxylase"|1q43|2016-10-05||2016-06-03|AF056032|1.14.13.9|8564|ENSG00000117009|9237672|NM_003679|||CCDS1618|OTTHUMG00000039635|8564|603538|NM_003679|O15229|ENSG00000117009|uc009xgp.4|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 241964517 exm163990 A C . PASS FUNCOTATION=[WDR64|hg19|chr1|241964517|241964517|NONSTOP||SNP|A|A|C|g.chr1:241964517A>C|ENST00000366552.2|+|27|3453|c.3246A>C|c.(3244-3246)taA>taC|p.*1082Y|0.4014962593516209|TACCCAAGTAAGGAGAAAAAA|WDR64_ENST00000437684.2_NONSTOP_p.*915Y|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(2)_%7C_pancreas(22)|||||||BX322532|NM_144625.4|NP_653226.4|HGNC:26570|WD_%20_repeat_%20_domain_%20_64|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32978||1q43|2014-11-18|||AK057540||128025|ENSG00000162843||NM_144625|362|WD_%20_repeat_%20_domain_%20_containing||OTTHUMG00000039705|128025||NM_144625|B1ANS9|ENSG00000162843|uc001hzg.3|WDR64_HUMAN||B1ANT0_%7C_Q7Z573_%7C_Q96LY9|B1ANS9|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 248039789 exm167009 T C . PASS FUNCOTATION=[TRIM58|hg19|chr1|248039789|248039789|NONSTOP||SNP|T|T|C|g.chr1:248039789T>C|ENST00000366481.3|+|6|1507|c.1459T>C|c.(1459-1461)Taa>Caa|p.*487Q|0.39650872817955113|TGATCATCTCTAAAATTCTGT|OR2W3_ENST00000537741.1_INTRON|||||||||||||||||||||||||93|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||BC074748|NM_015431.3|NP_056246.3|HGNC:24150|tripartite_%20_motif_%20_containing_%20_58|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tripartite_%20_motif-containing_%20_58"|BIA2||1q44|2015-08-26||2011-01-25|AF327057||25893|ENSG00000162722||NM_015431|59_%7C_58|Tripartite_%20_motif_%20_containing_%7C_Ring_%20_finger_%20_proteins|CCDS1636|OTTHUMG00000040203|25893||NM_015431|Q8NG06|ENSG00000162722|uc001ido.4|TRI58_HUMAN||Q6B0H9|Q8NG06||intracellular_%20_(GO:0005622)|zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 248366370 exm167630 A G . PASS FUNCOTATION=[OR2M3|hg19|chr1|248366370|248366370|START_CODON_SNP||SNP|A|A|G|g.chr1:248366370A>G|ENST00000456743.1|+|1|39|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.4389027431421446|CATACACATCATGGCAAGGGA||||||||||||||||||||||||||230|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(171)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471148|NM_001004689.1|NP_001004689.1|HGNC:8269|olfactory_%20_receptor_%20_family_%20_2_%20_subfamily_%20_M_%20_member_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|OR2M6_%2C__%20_OR2M3P|"olfactory_%20_receptor_%2C__%20_family_%20_2_%2C__%20_subfamily_%20_M_%2C__%20_member_%20_3"|OST003||1q44|2015-12-09|2004-03-10|2015-12-09|||127062|ENSG00000228198||NM_001004689|149|Olfactory_%20_receptors_%2C__%20_family_%20_2|CCDS31107|OTTHUMG00000040459|127062||NM_001004689|Q8NG83|ENSG00000228198|uc010pzg.2|OR2M3_HUMAN||B9EH06_%7C_Q6IEY0|Q8NG83||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 248367306 exm167691 T A . PASS FUNCOTATION=[OR2M3|hg19|chr1|248367306|248367306|NONSTOP||SNP|T|T|A|g.chr1:248367306T>A|ENST00000456743.1|+|1|975|c.937T>A|c.(937-939)Tga>Aga|p.*313R|0.38403990024937656|GTCTGGAGAGTGAGTTACCTA||||||||||||||||||||||||||230|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(171)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471148|NM_001004689.1|NP_001004689.1|HGNC:8269|olfactory_%20_receptor_%20_family_%20_2_%20_subfamily_%20_M_%20_member_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|OR2M6_%2C__%20_OR2M3P|"olfactory_%20_receptor_%2C__%20_family_%20_2_%2C__%20_subfamily_%20_M_%2C__%20_member_%20_3"|OST003||1q44|2015-12-09|2004-03-10|2015-12-09|||127062|ENSG00000228198||NM_001004689|149|Olfactory_%20_receptors_%2C__%20_family_%20_2|CCDS31107|OTTHUMG00000040459|127062||NM_001004689|Q8NG83|ENSG00000228198|uc010pzg.2|OR2M3_HUMAN||B9EH06_%7C_Q6IEY0|Q8NG83||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 248801588 exm168726 C T . PASS FUNCOTATION=[OR2T35|hg19|chr1|248801588|248801588|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:248801588C>T|ENST00000317450.3|-|1|972|c.972G>A|c.(970-972)taG>taA|p.*324*|0.516209476309227|GGAGTCCCTGCTAGCCCTTCC||||||||||||||||||||||||||46|biliary_tract(2)_%7C_central_nervous_system(22)_%7C_pancreas(22)|||||||BK004475|NM_001001827.1|NP_001001827.1|HGNC:31257|olfactory_%20_receptor_%20_family_%20_2_%20_subfamily_%20_T_%20_member_%20_35|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"olfactory_%20_receptor_%2C__%20_family_%20_2_%2C__%20_subfamily_%20_T_%2C__%20_member_%20_35"|||1q44|2015-12-09||2015-12-09|BK004475||403244|ENSG00000177151||NM_001001827|149|Olfactory_%20_receptors_%2C__%20_family_%20_2|CCDS31123|OTTHUMG00000040380|403244||NM_001001827|Q8NGX2|ENSG00000177151|uc001ies.1|O2T35_HUMAN||Q6IEY7|Q8NGX2||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr10 5144336 indel.11443 T TA . PASS FUNCOTATION=[AKR1C3|hg19|chr10|5144336|5144337|FRAME_SHIFT_INS||INS|-|-|A|g.chr10:5144336_5144337insA|ENST00000380554.3|+|6|1266|c.614_615insA|c.(613-615)ttcfs|p.F205fs|0.34|TGCTAGATTTCTGCAAGTCG|AKR1C3_ENST00000605149.1_FRAME_SHIFT_INS_p.F182fs/AKR1C3_ENST00000439082.2_FRAME_SHIFT_INS_p.F86fs|||||||||||||||||||||||||250|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(171)_%7C_pancreas(22)|||||||S68288|NM_003739.5|NP_003730.4|HGNC:386|aldo-keto_%20_reductase_%20_family_%20_1_%20_member_%20_C3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HSD17B5|"hydroxysteroid_%20_(17-beta)_%20_dehydrogenase_%20_5"_%2C__%20_"aldo-keto_%20_reductase_%20_family_%20_1_%2C__%20_member_%20_C3_%20_(3-alpha_%20_hydroxysteroid_%20_dehydrogenase_%2C__%20_type_%20_II)"|KIAA0119_%2C__%20_DDX_%2C__%20_HAKRB_%2C__%20_PGFS|"dihydrodiol_%20_dehydrogenase_%20_X"_%2C__%20_"prostaglandin_%20_F_%20_synthase"_%2C__%20_"3-alpha_%20_hydroxysteroid_%20_dehydrogenase_%2C__%20_type_%20_II"|10p15.1|2016-10-05||2016-06-03|L43839|1.1.1.213_%2C__%20_1.1.1.188|8644|ENSG00000196139|7650035_%2C__%20_9792917|NM_003739|399|Aldo-keto_%20_reductases|CCDS7063_%2C__%20_CCDS73062|OTTHUMG00000017585|8644|603966|NM_001253908|P42330|ENSG00000196139|uc001ihu.4|AK1C3_HUMAN|Bimatoprost(DB00905)_%7C_Doxorubicin(DB00997)|A8K2V0_%7C_B4DL37_%7C_Q5T2L1_%7C_Q96DJ1_%7C_Q96KI8_%7C_Q99530_%7C_Q9UCX1_%7C_Q9UII3_%7C_Q9UKL9|P42330|arachidonic_%20_acid_%20_metabolic_%20_process_%20_(GO:0019369)_%7C_cellular_%20_response_%20_to_%20_cadmium_%20_ion_%20_(GO:0071276)_%7C_cellular_%20_response_%20_to_%20_calcium_%20_ion_%20_(GO:0071277)_%7C_cellular_%20_response_%20_to_%20_corticosteroid_%20_stimulus_%20_(GO:0071384)_%7C_cellular_%20_response_%20_to_%20_jasmonic_%20_acid_%20_stimulus_%20_(GO:0071395)_%7C_cellular_%20_response_%20_to_%20_prostaglandin_%20_stimulus_%20_(GO:0071379)_%7C_cellular_%20_response_%20_to_%20_reactive_%20_oxygen_%20_species_%20_(GO:0034614)_%7C_cellular_%20_response_%20_to_%20_starvation_%20_(GO:0009267)_%7C_cyclooxygenase_%20_pathway_%20_(GO:0019371)_%7C_daunorubicin_%20_metabolic_%20_process_%20_(GO:0044597)_%7C_doxorubicin_%20_metabolic_%20_process_%20_(GO:0044598)_%7C_farnesol_%20_catabolic_%20_process_%20_(GO:0016488)_%7C_G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)_%7C_keratinocyte_%20_differentiation_%20_(GO:0030216)_%7C_male_%20_gonad_%20_development_%20_(GO:0008584)_%7C_multicellular_%20_organismal_%20_macromolecule_%20_metabolic_%20_process_%20_(GO:0044259)_%7C_negative_%20_regulation_%20_of_%20_retinoic_%20_acid_%20_biosynthetic_%20_process_%20_(GO:1900053)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_death_%20_(GO:0010942)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_endothelial_%20_cell_%20_apoptotic_%20_process_%20_(GO:2000353)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051897)_%7C_positive_%20_regulation_%20_of_%20_reactive_%20_oxygen_%20_species_%20_metabolic_%20_process_%20_(GO:2000379)_%7C_progesterone_%20_metabolic_%20_process_%20_(GO:0042448)_%7C_prostaglandin_%20_metabolic_%20_process_%20_(GO:0006693)_%7C_protein_%20_import_%20_into_%20_nucleus_%2C__%20_translocation_%20_(GO:0000060)_%7C_regulation_%20_of_%20_retinoic_%20_acid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048385)_%7C_regulation_%20_of_%20_testosterone_%20_biosynthetic_%20_process_%20_(GO:2000224)_%7C_renal_%20_absorption_%20_(GO:0070293)_%7C_response_%20_to_%20_nutrient_%20_(GO:0007584)_%7C_response_%20_to_%20_prostaglandin_%20_(GO:0034694)_%7C_retinal_%20_metabolic_%20_process_%20_(GO:0042574)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_steroid_%20_metabolic_%20_process_%20_(GO:0008202)_%7C_testosterone_%20_biosynthetic_%20_process_%20_(GO:0061370)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_intracellular_%20_(GO:0005622)_%7C_nucleus_%20_(GO:0005634)|15-hydroxyprostaglandin-D_%20_dehydrogenase_%20_(NADP+)_%20_activity_%20_(GO:0047020)_%7C_alditol:NADP+_%20_1-oxidoreductase_%20_activity_%20_(GO:0004032)_%7C_aldo-keto_%20_reductase_%20_(NADP)_%20_activity_%20_(GO:0004033)_%7C_androsterone_%20_dehydrogenase_%20_activity_%20_(GO:0047023)_%7C_delta4-3-oxosteroid_%20_5beta-reductase_%20_activity_%20_(GO:0047787)_%7C_dihydrotestosterone_%20_17-beta-dehydrogenase_%20_activity_%20_(GO:0035410)_%7C_geranylgeranyl_%20_reductase_%20_activity_%20_(GO:0045550)_%7C_indanol_%20_dehydrogenase_%20_activity_%20_(GO:0047718)_%7C_ketoreductase_%20_activity_%20_(GO:0045703)_%7C_ketosteroid_%20_monooxygenase_%20_activity_%20_(GO:0047086)_%7C_oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_NAD(P)H_%2C__%20_quinone_%20_or_%20_similar_%20_compound_%20_as_%20_acceptor_%20_(GO:0016655)_%7C_phenanthrene_%20_9_%2C_10-monooxygenase_%20_activity_%20_(GO:0018636)_%7C_prostaglandin_%20_D2_%20_11-ketoreductase_%20_activity_%20_(GO:0036131)_%7C_prostaglandin_%20_F_%20_receptor_%20_activity_%20_(GO:0004958)_%7C_prostaglandin-F_%20_synthase_%20_activity_%20_(GO:0047017)_%7C_retinal_%20_dehydrogenase_%20_activity_%20_(GO:0001758)_%7C_retinol_%20_dehydrogenase_%20_activity_%20_(GO:0004745)_%7C_testosterone_%20_17-beta-dehydrogenase_%20_(NADP+)_%20_activity_%20_(GO:0047045)_%7C_testosterone_%20_dehydrogenase_%20_(NAD+)_%20_activity_%20_(GO:0047035)_%7C_trans-1_%2C_2-dihydrobenzene-1_%2C_2-diol_%20_dehydrogenase_%20_activity_%20_(GO:0047115)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr10 5204954 indel.11449 G GA . PASS FUNCOTATION=[AKR1CL1|hg19|chr10|5204954|5204955|FRAME_SHIFT_INS||INS|-|-|A|g.chr10:5204954_5204955insA|ENST00000334314.3|-|2|200|c.122_123insT|c.(121-123)accfs|p.K42fs|0.445|AGCCACTTTGGTGGCCTCGG|AKR1CL1_ENST00000465430.1_FIVE_PRIME_FLANK|Ovarian(129_%3B_1623_%20_1737_%20_25446_%20_28757_%20_47467)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC101205||||||||||||||||||||||||||||||||AKCL1_HUMAN||A6NF66_%7C_Q6ZN81|Q5T2L2||cytoplasm_%20_(GO:0005737)|oxidoreductase_%20_activity_%20_(GO:0016491)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr10 14867578 exm810770 G C . PASS FUNCOTATION=[CDNF|hg19|chr10|14867578|14867578|DE_NOVO_START_IN_FRAME||SNP|G|G|C|g.chr10:14867578G>C|ENST00000378442.1|-|5|||||0.4389027431421446|CTTCACTTAGGATCTTTGTGG|CDNF_ENST00000378441.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471072|||HGNC:24913|cerebral_%20_dopamine_%20_neurotrophic_%20_factor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ARMETL1|"arginine-rich_%2C__%20_mutated_%20_in_%20_early_%20_stage_%20_tumors-like_%20_1"||"conserved_%20_dopamine_%20_neurotrophic_%20_factor"|10p13|2015-09-11|2009-06-04|2009-06-04|BC037872||441549|ENSG00000185267|17611540|NM_001029954|||CCDS31148|OTTHUMG00000017713|441549|611233|NM_001029954|Q49AH0|ENSG00000185267|uc001inb.3|CDNF_HUMAN||A2RUU0_%7C_B4DVW3|Q49AH0||extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr10 35426755 rs17499247 A G . PASS FUNCOTATION=[CREM|hg19|chr10|35426755|35426755|DE_NOVO_START_OUT_FRAME||SNP|A|A|G|g.chr10:35426755A>G|ENST00000345491.3|+|2|||||0.26683291770573564|GATTACAAATATCTTAACAAT|CREM_ENST00000374721.3_DE_NOVO_START_OUT_FRAME/CREM_ENST00000354759.3_DE_NOVO_START_OUT_FRAME/CREM_ENST00000429130.3_DE_NOVO_START_OUT_FRAME/CREM_ENST00000460270.1_INTRON/CREM_ENST00000374726.3_INTRON/CREM_ENST00000474362.1_INTRON/CREM_ENST00000489321.1_INTRON/CREM_ENST00000469949.2_INTRON/CREM_ENST00000395895.2_DE_NOVO_START_OUT_FRAME/CREM_ENST00000333809.8_DE_NOVO_START_OUT_FRAME/CREM_ENST00000439705.1_DE_NOVO_START_OUT_FRAME/CREM_ENST00000374728.3_INTRON/CREM_ENST00000337656.4_FIVE_PRIME_FLANK/CREM_ENST00000374734.3_FIVE_PRIME_FLANK/CREM_ENST00000479070.1_FIVE_PRIME_FLANK/CREM_ENST00000489388.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z15159|NM_181571.2|NP_853549.1|HGNC:2352|cAMP_%20_responsive_%20_element_%20_modulator|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||hCREM-2||10p11.21|2016-10-05|||||1390|ENSG00000095794|1461747_%2C__%20_7916662|NM_001881|506|Basic_%20_leucine_%20_zipper_%20_proteins|CCDS7180_%2C__%20_CCDS7181_%2C__%20_CCDS7182_%2C__%20_CCDS7183_%2C__%20_CCDS7184_%2C__%20_CCDS7185_%2C__%20_CCDS7186_%2C__%20_CCDS7187_%2C__%20_CCDS7188_%2C__%20_CCDS31181_%2C__%20_CCDS53519_%2C__%20_CCDS53520_%2C__%20_CCDS53517_%2C__%20_CCDS53518_%2C__%20_CCDS53521_%2C__%20_CCDS58074_%2C__%20_CCDS58075_%2C__%20_CCDS58076|OTTHUMG00000017953|1390|123812|NM_001267562|Q03060|ENSG00000095794|uc001iyb.4|CREM_HUMAN||A8K014_%7C_A8K3J7_%7C_A8K6A1_%7C_A8MPQ2_%7C_B4DXC1_%7C_C9J785_%7C_C9JZ10_%7C_E9PAR4_%7C_E9PHM1_%7C_O75519_%7C_Q14501_%7C_Q14503_%7C_Q14504_%7C_Q14505_%7C_Q14506_%7C_Q15731_%7C_Q16114_%7C_Q16116_%7C_Q5T9H7_%7C_Q5W1A6_%7C_Q5W1A7_%7C_Q5W1A8_%7C_Q5W1A9_%7C_Q5W1B0_%7C_Q5W1B2_%7C_Q7Z2Q6_%7C_Q8IVD4_%7C_Q96AG7_%7C_Q9NZ98_%7C_Q9NZ99_%7C_Q9NZB9|Q03060|cell_%20_differentiation_%20_(GO:0030154)_%7C_glycosphingolipid_%20_metabolic_%20_process_%20_(GO:0006687)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_rhythmic_%20_process_%20_(GO:0048511)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_spermatogenesis_%20_(GO:0007283)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)|cAMP_%20_response_%20_element_%20_binding_%20_protein_%20_binding_%20_(GO:0008140)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr10 38344447 indel.12316 T TA . PASS FUNCOTATION=[ZNF33A|hg19|chr10|38344447|38344448|FRAME_SHIFT_INS||INS|-|-|A|g.chr10:38344447_38344448insA|ENST00000374618.3|+|5|1573|c.1395_1396insA|c.(1396-1398)gagfs|p.E466fs|0.4025|TCACACAGGTGAGAAACCTT|ZNF33A_ENST00000458705.2_FRAME_SHIFT_INS_p.E465fs/ZNF33A_ENST00000469037.2_INTRON/ZNF33A_ENST00000432900.2_FRAME_SHIFT_INS_p.E472fs/ZNF33A_ENST00000307441.9_FRAME_SHIFT_INS_p.E465fs|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X68689|NM_006974.2|NP_008905.1|HGNC:13096|zinc_%20_finger_%20_protein_%20_33A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZNF33_%2C__%20_ZNF11A|"zinc_%20_finger_%20_protein_%20_33a_%20_(KOX_%20_31)"_%2C__%20_"zinc_%20_finger_%20_protein_%20_11A"|KOX5_%2C__%20_KOX31_%2C__%20_KIAA0065_%2C__%20_FLJ23404_%2C__%20_ZZAPK|"zinc_%20_finger_%20_and_%20_ZAK_%20_associated_%20_protein_%20_with_%20_KRAB_%20_domain"|10p11.1|2016-10-05||2005-03-18|D31763||7581|ENSG00000189180|2014798_%2C__%20_8464732|NM_006974|28|Zinc_%20_fingers_%20_C2H2-type|CCDS31182_%2C__%20_CCDS60514_%2C__%20_CCDS73088_%2C__%20_CCDS73089_%2C__%20_CCDS44372|OTTHUMG00000017983|7581|194521|NM_001278170|Q06730|ENSG00000189180|uc001izh.4|ZN33A_HUMAN||A8K9X9_%7C_B4E0M8_%7C_F6TH33_%7C_F8WAJ5_%7C_P17013_%7C_Q5VZ86|Q06730|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr10 55955567 exm825941 T C . PASS FUNCOTATION=[PCDH15|hg19|chr10|55955567|55955567|DE_NOVO_START_OUT_FRAME||SNP|T|T|C|g.chr10:55955567T>C|ENST00000409834.1|-|3|||||0.34663341645885287|CATTGTAAAATATGGACTTTG|PCDH15_ENST00000373965.2_MISSENSE_p.Y394C/PCDH15_ENST00000361849.3_MISSENSE_p.Y394C/PCDH15_ENST00000395433.1_MISSENSE_p.Y372C/PCDH15_ENST00000320301.6_MISSENSE_p.Y394C/PCDH15_ENST00000395430.1_MISSENSE_p.Y394C/PCDH15_ENST00000395438.1_MISSENSE_p.Y394C/PCDH15_ENST00000395445.1_MISSENSE_p.Y394C/PCDH15_ENST00000373955.1_MISSENSE_p.Y394C/PCDH15_ENST00000373957.3_MISSENSE_p.Y372C/PCDH15_ENST00000395446.1_MISSENSE_p.Y394C/PCDH15_ENST00000395440.1_MISSENSE_p.Y394C/PCDH15_ENST00000395442.1_INTRON/PCDH15_ENST00000414778.1_MISSENSE_p.Y399C/PCDH15_ENST00000395432.2_MISSENSE_p.Y357C/PCDH15_ENST00000437009.1_MISSENSE_p.Y394C|||||||||||||||||||||||||575|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(185)_%7C_lung(101)_%7C_pancreas(112)_%7C_upper_aerodigestive_tract(120)|||||||AL603835|||HGNC:14674|protocadherin_%20_related_%20_15|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|USH1F_%2C__%20_DFNB23|"deafness_%2C__%20_autosomal_%20_recessive_%20_23"_%2C__%20_"protocadherin_%20_15"|CDHR15|"cadherin-related_%20_family_%20_member_%20_15"|10q21.1|2016-06-08||2016-06-08|AY029205||65217|ENSG00000150275|11398101_%2C__%20_14570705|NM_033056|1152_%7C_24|Deafness_%20_associated_%20_genes_%7C_Cadherin_%20_related|CCDS7248_%2C__%20_CCDS44400_%2C__%20_CCDS44401_%2C__%20_CCDS44403_%2C__%20_CCDS44404_%2C__%20_CCDS73134_%2C__%20_CCDS73135_%2C__%20_CCDS73136_%2C__%20_CCDS73137_%2C__%20_CCDS73138|OTTHUMG00000018259|65217|605514|NM_001142763|Q96QU1|ENSG00000150275|uc057tid.1|PCD15_HUMAN||A6NL19_%7C_C6ZEF5_%7C_C6ZEF6_%7C_C6ZEF7_%7C_Q5VY38_%7C_Q5VY39_%7C_Q6TRH8_%7C_Q8NDB9_%7C_Q96QT8|Q96QU1|equilibrioception_%20_(GO:0050957)_%7C_homophilic_%20_cell_%20_adhesion_%20_(GO:0007156)_%7C_photoreceptor_%20_cell_%20_maintenance_%20_(GO:0045494)_%7C_sensory_%20_perception_%20_of_%20_light_%20_stimulus_%20_(GO:0050953)_%7C_sensory_%20_perception_%20_of_%20_sound_%20_(GO:0007605)|extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_photoreceptor_%20_outer_%20_segment_%20_(GO:0001750)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_stereocilium_%20_(GO:0032420)_%7C_synapse_%20_(GO:0045202)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr10 70182529 indel.12828 A AAG . PASS FUNCOTATION=[DNA2|hg19|chr10|70182529|70182530|FRAME_SHIFT_INS||INS|-|-|AG|g.chr10:70182529_70182530insAG|ENST00000358410.3|-|15|2378|c.2326_2327insCT|c.(2326-2328)cttfs|p.L776fs|0.3525|GAAAAAAAAAGGGGGCCCAG|DNA2_ENST00000399180.2_FRAME_SHIFT_INS_p.L862fs/DNA2_ENST00000399179.2_INTRON|||||||||||||||||||||||||||||||||D42046|NM_001080449.2|NP_001073918.2|HGNC:2939|DNA_%20_replication_%20_helicase/nuclease_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DNA2L|"DNA2_%20_DNA_%20_replication_%20_helicase_%20_2-like_%20_(yeast)"_%2C__%20_"DNA_%20_replication_%20_helicase_%20_2_%20_homolog_%20_(yeast)"|KIAA0083||10q21.3|2016-10-05|2008-01-08|2013-05-13|D42046||1763|ENSG00000138346|8938459_%2C__%20_17032657_%2C__%20_23352259||1169|UPF1_%20_like_%20_RNA_%20_helicases|CCDS44415|OTTHUMG00000018352|1763|601810|NM_001080449|P51530|ENSG00000138346|uc057tqx.1|DNA2_HUMAN||Q2NKM1_%7C_Q5TC49_%7C_Q5TC50_%7C_Q6P455_%7C_Q6PI80_%7C_Q7Z6H9_%7C_Q8N346|P51530|ATP_%20_catabolic_%20_process_%20_(GO:0006200)_%7C_base-excision_%20_repair_%20_(GO:0006284)_%7C_DNA_%20_catabolic_%20_process_%2C__%20_endonucleolytic_%20_(GO:0000737)_%7C_DNA_%20_double-strand_%20_break_%20_processing_%20_(GO:0000729)_%7C_DNA_%20_duplex_%20_unwinding_%20_(GO:0032508)_%7C_DNA_%20_replication_%20_(GO:0006260)_%7C_DNA_%20_replication_%20_checkpoint_%20_(GO:0000076)_%7C_DNA_%20_replication_%2C__%20_Okazaki_%20_fragment_%20_processing_%20_(GO:0033567)_%7C_DNA_%20_replication_%2C__%20_removal_%20_of_%20_RNA_%20_primer_%20_(GO:0043137)_%7C_DNA_%20_strand_%20_elongation_%20_involved_%20_in_%20_DNA_%20_replication_%20_(GO:0006271)_%7C_mitochondrial_%20_DNA_%20_repair_%20_(GO:0043504)_%7C_mitochondrial_%20_DNA_%20_replication_%20_(GO:0006264)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_replication_%20_(GO:0045740)_%7C_telomere_%20_maintenance_%20_(GO:0000723)_%7C_telomere_%20_maintenance_%20_via_%20_recombination_%20_(GO:0000722)_%7C_telomere_%20_maintenance_%20_via_%20_semi-conservative_%20_replication_%20_(GO:0032201)|mitochondrial_%20_nucleoid_%20_(GO:0042645)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|4_%20_iron_%2C__%20_4_%20_sulfur_%20_cluster_%20_binding_%20_(GO:0051539)_%7C_5'-3'_%20_DNA_%20_helicase_%20_activity_%20_(GO:0043139)_%7C_5'-flap_%20_endonuclease_%20_activity_%20_(GO:0017108)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_ATPase_%20_activity_%20_(GO:0016887)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_DNA_%20_helicase_%20_activity_%20_(GO:0003678)_%7C_helicase_%20_activity_%20_(GO:0004386)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_nuclease_%20_activity_%20_(GO:0004518)_%7C_single-stranded_%20_DNA-dependent_%20_ATPase_%20_activity_%20_(GO:0043142)_%7C_site-specific_%20_endodeoxyribonuclease_%20_activity_%2C__%20_specific_%20_for_%20_altered_%20_base_%20_(GO:0016890)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr10 90988034 indel.13572 C CGG . PASS FUNCOTATION=[LIPA|hg19|chr10|90988034|90988035|FRAME_SHIFT_INS||INS|-|-|GG|g.chr10:90988034_90988035insGG|ENST00000336233.5|-|4|674|c.350_351insCC|c.(349-351)atgfs|p.M117fs|0.4325|GCTGTTGCCCATCCACACGT|LIPA_ENST00000456827.1_FRAME_SHIFT_INS_p.M117fs/LIPA_ENST00000371837.1_FRAME_SHIFT_INS_p.M61fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z31690|||HGNC:6617|lipase_%20_A_%2C__%20_lysosomal_%20_acid_%20_type|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"lipase_%20_A_%2C__%20_lysosomal_%20_acid_%2C__%20_cholesterol_%20_esterase"|LAL_%2C__%20_CESD|"Wolman_%20_disease"_%2C__%20_"lysosomal_%20_acid_%20_lipase"_%2C__%20_"sterol_%20_esterase"|10q23.31|2016-10-05||2016-02-12|M74775|3.1.1.13|3988|ENSG00000107798|8432549|NM_000235|464|Lipases|CCDS7401_%2C__%20_CCDS73160|OTTHUMG00000018716|3988|613497|NM_000235|P38571|ENSG00000107798|uc001kga.6|LICH_HUMAN||B2RBH5_%7C_D3DR29_%7C_Q16529_%7C_Q53H21_%7C_Q5T074_%7C_Q5T771_%7C_Q96EJ0|P38571|cell_%20_morphogenesis_%20_(GO:0000902)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_cytokine_%20_production_%20_(GO:0001816)_%7C_homeostasis_%20_of_%20_number_%20_of_%20_cells_%20_within_%20_a_%20_tissue_%20_(GO:0048873)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_lipid_%20_catabolic_%20_process_%20_(GO:0016042)_%7C_lung_%20_development_%20_(GO:0030324)_%7C_tissue_%20_remodeling_%20_(GO:0048771)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_lysosome_%20_(GO:0005764)|lipase_%20_activity_%20_(GO:0016298)_%7C_sterol_%20_esterase_%20_activity_%20_(GO:0004771)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr10 95121241 indel.13733 G GGT . PASS FUNCOTATION=[MYOF|hg19|chr10|95121241|95121242|FRAME_SHIFT_INS||INS|-|-|GT|g.chr10:95121241_95121242insGT|ENST00000359263.4|-|28|2942|c.2941_2942insAC|c.(2941-2943)tctfs|p.S981fs|0.47|ATGTCATAAGACCATGCATC|MYOF_ENST00000358334.5_FRAME_SHIFT_INS_p.S968fs/MYOF_ENST00000371501.4_FRAME_SHIFT_INS_p.S981fs/MYOF_ENST00000371502.4_FRAME_SHIFT_INS_p.S981fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC052617|NM_013451.3|NP_038479.1|HGNC:3656|myoferlin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FER1L3|"fer-1_%20_(C.elegans)-like_%20_3_%20_(myoferlin)"_%2C__%20_"fer-1-like_%20_3_%2C__%20_myoferlin_%20_(C._%20_elegans)"|KIAA1207|"fer-1-like_%20_family_%20_member_%20_3"|10q23.33|2016-10-05|2008-11-26|2008-11-26|AB033033||26509|ENSG00000138119|10607832_%2C__%20_10995573_%2C__%20_17702744|NM_013451|828|Ferlin_%20_family|CCDS41550_%2C__%20_CCDS41551|OTTHUMG00000018772|26509|604603|NM_013451|Q9NZM1|ENSG00000138119|uc001kin.4|MYOF_HUMAN||B3KQN5_%7C_Q5VWW2_%7C_Q5VWW3_%7C_Q5VWW4_%7C_Q5VWW5_%7C_Q7Z642_%7C_Q8IWH0_%7C_Q9HBU3_%7C_Q9NZM0_%7C_Q9ULL3_%7C_Q9Y4U4|Q9NZM1|blood_%20_circulation_%20_(GO:0008015)_%7C_cellular_%20_response_%20_to_%20_heat_%20_(GO:0034605)_%7C_muscle_%20_contraction_%20_(GO:0006936)_%7C_plasma_%20_membrane_%20_repair_%20_(GO:0001778)_%7C_regulation_%20_of_%20_vascular_%20_endothelial_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030947)|caveola_%20_(GO:0005901)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_plasma_%20_membrane_%20_(GO:0005886)|phospholipid_%20_binding_%20_(GO:0005543)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr10 102048159 indel.14208 C CA . PASS FUNCOTATION=[PKD2L1|hg19|chr10|102048159|102048160|FRAME_SHIFT_INS||INS|-|-|A|g.chr10:102048159_102048160insA|ENST00000318222.3|-|16|2795|c.2411_2412insT|c.(2410-2412)aggfs|p.R804fs|0.465|CACTTAACTCCTCTGCAACG|PKD2L1_ENST00000338519.3_FRAME_SHIFT_INS_p.R729fs/PKD2L1_ENST00000353274.3_THREE_PRIME_UTR/BLOC1S2_ENST00000370372.2_FIVE_PRIME_FLANK/BLOC1S2_ENST00000441611.1_FIVE_PRIME_FLANK/BLOC1S2_ENST00000361832.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(12)_%7C_pancreas(22)|||||||CH471066|NM_016112.2|NP_057196.2|HGNC:9011|polycystin_%20_2_%20_like_%20_1_%2C__%20_transient_%20_receptor_%20_potential_%20_cation_%20_channel|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PKD2L_%2C__%20_PKDL|"polycystic_%20_kidney_%20_disease_%20_2-like_%20_1"|PCL_%2C__%20_TRPP3|"transient_%20_receptor_%20_potential_%20_cation_%20_channel_%2C__%20_subfamily_%20_P_%2C__%20_member_%20_3"|10q24.31|2016-01-28||2016-01-28|AF094827||9033|ENSG00000107593|9878261_%2C__%20_9748274|NM_016112|249|Transient_%20_receptor_%20_potential_%20_cation_%20_channels|CCDS7492|OTTHUMG00000018910|9033|604532|NM_001253837|Q9P0L9|ENSG00000107593|uc001kqx.2|PK2L1_HUMAN||O75972_%7C_Q5W039_%7C_Q9UP35_%7C_Q9UPA2|Q9P0L9|cation_%20_transport_%20_(GO:0006812)_%7C_cellular_%20_response_%20_to_%20_acidic_%20_pH_%20_(GO:0071468)_%7C_detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_sour_%20_taste_%20_(GO:0001581)_%7C_detection_%20_of_%20_mechanical_%20_stimulus_%20_(GO:0050982)_%7C_potassium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0071805)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_sensory_%20_perception_%20_of_%20_sour_%20_taste_%20_(GO:0050915)_%7C_smoothened_%20_signaling_%20_pathway_%20_(GO:0007224)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)|calcium_%20_channel_%20_complex_%20_(GO:0034704)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_plasma_%20_membrane_%20_(GO:0005886)|alpha-actinin_%20_binding_%20_(GO:0051393)_%7C_calcium_%20_activated_%20_cation_%20_channel_%20_activity_%20_(GO:0005227)_%7C_calcium_%20_channel_%20_activity_%20_(GO:0005262)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_calcium-activated_%20_potassium_%20_channel_%20_activity_%20_(GO:0015269)_%7C_cation_%20_channel_%20_activity_%20_(GO:0005261)_%7C_cytoskeletal_%20_protein_%20_binding_%20_(GO:0008092)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_muscle_%20_alpha-actinin_%20_binding_%20_(GO:0051371)_%7C_sodium_%20_channel_%20_activity_%20_(GO:0005272)_%7C_sour_%20_taste_%20_receptor_%20_activity_%20_(GO:0033040)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr10 102684419 indel.14264 A AT . PASS FUNCOTATION=[FAM178A|hg19|chr10|102684419|102684420|FRAME_SHIFT_INS||INS|-|-|T|g.chr10:102684419_102684420insT|ENST00000238961.4|+|5|2203|c.1661_1662insT|c.(1660-1662)aagfs|p.K554fs|0.4225|CTCCTACAAAGTCTCCCCCT|FAM178A_ENST00000370269.3_FRAME_SHIFT_INS_p.K554fs/FAM178A_ENST00000370271.3_FRAME_SHIFT_INS_p.K554fs|||||||||||||||||||||||||||||||||BC030565|NM_018121.3|NP_060591.3||||||||||||||||||||||||||||||F178A_HUMAN||A8K950_%7C_B1AL17_%7C_Q5W0L8_%7C_Q6GMU6_%7C_Q9NPE8|Q8IX21||chromatin_%20_(GO:0000785)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr10 120795681 indel.14858 TCTCGGTCTCTTG T . PASS FUNCOTATION=[EIF3A|hg19|chr10|120795682|120795693|IN_FRAME_DEL||DEL|CTCGGTCTCTTG|CTCGGTCTCTTG|-|g.chr10:120795682_120795693delCTCGGTCTCTTG|ENST00000369144.3|-|22|4147_4158|c.4007_4018delCAAGAGACCGAG|c.(4006-4020)tcaagagaccgagaa>taa|p.1336_1340SRDRE>*|0.3859223300970874|CGGTCTCTTTCTCGGTCTCTTGAAAGAGCTGG|EIF3A_ENST00000541549.1_IN_FRAME_DEL_p.1302_1306SRDRE>*|||||||||||||||||||||||||185|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||U78311|NM_003750.2|NP_003741.1|HGNC:3271|eukaryotic_%20_translation_%20_initiation_%20_factor_%20_3_%20_subunit_%20_A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EIF3_%2C__%20_EIF3S10|"eukaryotic_%20_translation_%20_initiation_%20_factor_%20_3_%2C__%20_subunit_%20_10_%20_theta_%2C__%20_150/170kDa"_%2C__%20_"eukaryotic_%20_translation_%20_initiation_%20_factor_%20_3_%2C__%20_subunit_%20_A"|eIF3-theta_%2C__%20_eIF3-p170_%2C__%20_KIAA0139_%2C__%20_eIF3a_%2C__%20_TIF32||10q26.11|2015-12-04|2007-07-27|2015-12-04|U78311||8661|ENSG00000107581|9054404_%2C__%20_8590280|NM_003750|1121|Eukaryotic_%20_translation_%20_initiation_%20_factor_%20_3|CCDS7608|OTTHUMG00000019144|8661|602039|NM_003750|Q14152|ENSG00000107581|uc001ldu.4|IF6_HUMAN||B7ZBG9_%7C_Q6IBN8_%7C_Q96TD5|P56537|mature_%20_ribosome_%20_assembly_%20_(GO:0042256)_%7C_ribosomal_%20_large_%20_subunit_%20_biogenesis_%20_(GO:0042273)_%7C_ribosomal_%20_subunit_%20_export_%20_from_%20_nucleus_%20_(GO:0000054)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_lamin_%20_filament_%20_(GO:0005638)_%7C_nucleus_%20_(GO:0005634)|ribosomal_%20_large_%20_subunit_%20_binding_%20_(GO:0043023)_%7C_ribosome_%20_binding_%20_(GO:0043022)_%7C_translation_%20_initiation_%20_factor_%20_activity_%20_(GO:0003743)||||true|false||false|false|||false|false|false|EIF3A:8661|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|766037789|120795682|false|false|0|false|0|false||false|false|false|DIV|false|0x050000000005000402000200|1|false|144|rs766037789|] -chr10 121541194 indel.14880 A AG . PASS FUNCOTATION=[INPP5F|hg19|chr10|121541194|121541195|FRAME_SHIFT_INS||INS|-|-|G|g.chr10:121541194_121541195insG|ENST00000361976.2|+|3|392|c.226_227insG|c.(226-228)aaafs|p.K76fs|0.3625|TTGGTGGGCAAACTCCCAGG|INPP5F_ENST00000369081.1_FIVE_PRIME_UTR/INPP5F_ENST00000369083.3_FRAME_SHIFT_INS_p.K76fs|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471066|NM_014937.3|NP_055752.1|HGNC:17054|inositol_%20_polyphosphate-5-phosphatase_%20_F|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SAC2_%2C__%20_KIAA0966_%2C__%20_hSac2||10q26.11|2017-03-24|||AB023183||22876|ENSG00000198825|11274189_%2C__%20_25869669|NM_014937|1079|Phosphoinositide_%20_phosphatases|CCDS7616_%2C__%20_CCDS58098_%2C__%20_CCDS81513|OTTHUMG00000019158|22876|609389|NM_001243194|Q9Y2H2|ENSG00000198825|uc001leo.4|OCRL_HUMAN||A6NKI1_%7C_A8KAP2_%7C_B7ZLX2_%7C_O60800_%7C_Q15684_%7C_Q15774_%7C_Q4VY09_%7C_Q4VY10_%7C_Q5JQF1_%7C_Q5JQF2_%7C_Q9UJG5_%7C_Q9UMA5|Q01968|cilium_%20_assembly_%20_(GO:0042384)_%7C_in_%20_utero_%20_embryonic_%20_development_%20_(GO:0001701)_%7C_inositol_%20_phosphate_%20_metabolic_%20_process_%20_(GO:0043647)_%7C_lipid_%20_metabolic_%20_process_%20_(GO:0006629)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_dephosphorylation_%20_(GO:0046856)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_positive_%20_regulation_%20_of_%20_Rac_%20_GTPase_%20_activity_%20_(GO:0032855)_%7C_regulation_%20_of_%20_Rac_%20_GTPase_%20_activity_%20_(GO:0032314)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_coated_%20_pit_%20_(GO:0005905)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_early_%20_endosome_%20_(GO:0005769)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_stack_%20_(GO:0005795)_%7C_Golgi-associated_%20_vesicle_%20_(GO:0005798)_%7C_nucleus_%20_(GO:0005634)_%7C_photoreceptor_%20_outer_%20_segment_%20_(GO:0001750)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_trans-Golgi_%20_network_%20_(GO:0005802)|inositol_%20_phosphate_%20_phosphatase_%20_activity_%20_(GO:0052745)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_5-phosphatase_%20_activity_%20_(GO:0004439)_%7C_Rac_%20_GTPase_%20_activator_%20_activity_%20_(GO:0030675)_%7C_Rac_%20_GTPase_%20_binding_%20_(GO:0048365)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr10 124794031 exm862402 G T . PASS FUNCOTATION=[ACADSB|hg19|chr10|124794031|124794031|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr10:124794031G>T|ENST00000368869.4|+|2|||||0.40648379052369077|AAAGAGTTCAGGTAAGTAAAT|ACADSB_ENST00000358776.4_SPLICE_SITE_p.V68F/ACADSB_ENST00000496730.2_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL731666|||HGNC:91|acyl-CoA_%20_dehydrogenase_%20_short/branched_%20_chain|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"acyl-Coenzyme_%20_A_%20_dehydrogenase_%2C__%20_short/branched_%20_chain"|SBCAD_%2C__%20_ACAD7||10q26.13|2017-09-21||2017-09-21|U12778|1.3.99.-|36|ENSG00000196177|7698750_%2C__%20_7759115|NM_001609|974|Acyl-CoA_%20_dehydrogenase_%20_family|CCDS7634_%2C__%20_CCDS81518|OTTHUMG00000019200|36|600301|NM_001609|P45954|ENSG00000196177|uc001lhb.4|ACDSB_HUMAN|L-Isoleucine(DB00167)_%7C_Valproic_%20_Acid(DB00313)|B4DQ51_%7C_Q5SQN6_%7C_Q96CX7|P45954|branched-chain_%20_amino_%20_acid_%20_catabolic_%20_process_%20_(GO:0009083)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_fatty_%20_acid_%20_metabolic_%20_process_%20_(GO:0006631)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_mitochondrion_%20_(GO:0005739)|acyl-CoA_%20_dehydrogenase_%20_activity_%20_(GO:0003995)_%7C_flavin_%20_adenine_%20_dinucleotide_%20_binding_%20_(GO:0050660)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr11 4664657 rs7925271 C T . PASS FUNCOTATION=[OR51E1|hg19|chr11|4664657|4664657|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr11:4664657C>T|ENST00000396952.5|+|1|||||0.486284289276808|GTGAATTCCACGCTTAGCAAG||||||||||||||||||||||||||116|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_lung(3)_%7C_pancreas(22)|||||||CH471064|NM_152430.3|NP_689643.2|HGNC:15194|olfactory_%20_receptor_%20_family_%20_51_%20_subfamily_%20_E_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|OR51E1P_%2C__%20_OR52A3P_%2C__%20_GPR164|"olfactory_%20_receptor_%2C__%20_family_%20_51_%2C__%20_subfamily_%20_E_%2C__%20_member_%20_1_%20_pseudogene"_%2C__%20_"olfactory_%20_receptor_%2C__%20_family_%20_51_%2C__%20_subfamily_%20_E_%2C__%20_member_%20_1"|GPR136||11p15.4|2015-12-09|2004-11-06|2015-12-09|AY775731||143503|ENSG00000180785||NM_152430|164|Olfactory_%20_receptors_%2C__%20_family_%20_51|CCDS31358|OTTHUMG00000157024|143503|611267|NM_152430|Q8TCB6|ENSG00000180785|uc001lzi.5|O51E1_HUMAN||A8KAM6_%7C_Q5S4P5_%7C_Q66X57_%7C_Q6IF93|Q8TCB6||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr11 4945317 indel.16143 C CT . PASS FUNCOTATION=[OR51G1|hg19|chr11|4945317|4945318|FRAME_SHIFT_INS||INS|-|-|T|g.chr11:4945317_4945318insT|ENST00000321961.2|-|1|321|c.252_253insA|c.(253-255)ggcfs|p.G85fs|0.5|AGAAAATGCCCAGCACAGTG|MMP26_ENST00000380390.1_INTRON/MMP26_ENST00000477339.1_INTRON|||||||||||||||||||||||||68|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BK004286|NM_001005237.1|NP_001005237.1|HGNC:14738|olfactory_%20_receptor_%20_family_%20_51_%20_subfamily_%20_G_%20_member_%20_1_%20_(gene/pseudogene)|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|OR51G3P|"olfactory_%20_receptor_%2C__%20_family_%20_51_%2C__%20_subfamily_%20_G_%2C__%20_member_%20_1_%20_(gene/pseudogene)"|||11p15.4|2016-10-10||2015-12-09|AB065793||79324|ENSG00000278870||NM_001005237|164|Olfactory_%20_receptors_%2C__%20_family_%20_51||OTTHUMG00000066532|79324||NM_001005237|Q8NGK1|ENSG00000278870|uc010qyr.2|O51G1_HUMAN||B9EGW8_%7C_Q6IFH6|Q8NGK1||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr11 5842447 indel.16325 T TC . PASS FUNCOTATION=[OR52N2|hg19|chr11|5842447|5842448|FRAME_SHIFT_INS||INS|-|-|C|g.chr11:5842447_5842448insC|ENST00000317037.2|+|1|904|c.882_883insC|c.(883-885)tatfs|p.Y295fs|0.3725|CCCAATTGTTTATGGAGTCA|TRIM5_ENST00000380027.1_INTRON|||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471064|NM_001005174.1|NP_001005174.1|HGNC:15228|olfactory_%20_receptor_%20_family_%20_52_%20_subfamily_%20_N_%20_member_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"olfactory_%20_receptor_%2C__%20_family_%20_52_%2C__%20_subfamily_%20_N_%2C__%20_member_%20_2"|||11p15.4|2015-12-09||2015-12-09|AB065816||390077|ENSG00000180988||NM_001005174|165|Olfactory_%20_receptors_%2C__%20_family_%20_52|CCDS31399|OTTHUMG00000168801|390077||NM_001005174|Q8NGI0|ENSG00000180988|uc010qzp.3|O52N2_HUMAN||Q6IFF9|Q8NGI0||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr11 58891938 var_11_58891938 A ACT . PASS FUNCOTATION=[FAM111B|hg19|chr11|58891938|58891939|FRAME_SHIFT_INS||INS|-|-|CT|g.chr11:58891938_58891939insCT|ENST00000343597.3|+|4|559|c.368_369insCT|c.(367-369)aatfs|p.Q124fs|0.3475|GGATAAAGAATCAGTTTAAT|FAM111B_ENST00000529618.1_FRAME_SHIFT_INS_p.Q94fs/FAM111B_ENST00000411426.1_FRAME_SHIFT_INS_p.Q94fs|||||||||||||||||||||||||179|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(12)_%7C_pancreas(22)|||||||BC130539|NM_198947.3|NP_945185.1|HGNC:24200|family_%20_with_%20_sequence_%20_similarity_%20_111_%20_member_%20_B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"family_%20_with_%20_sequence_%20_similarity_%20_111_%2C__%20_member_%20_B"|CANP||11q12.1|2016-09-30||2015-11-18|BC062456||374393|ENSG00000189057|24268661|NM_198947|||CCDS7972_%2C__%20_CCDS44611|OTTHUMG00000167279|374393|615584|NM_001142703|Q6SJ93|ENSG00000189057|uc001nnl.5|F111B_HUMAN||B4E2G2_%7C_Q6P661|Q6SJ93|||catalytic_%20_activity_%20_(GO:0003824)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr11 59132518 indel.18341 T TG . PASS FUNCOTATION=[OR5AN1|hg19|chr11|59132518|59132519|FRAME_SHIFT_INS||INS|-|-|G|g.chr11:59132518_59132519insG|ENST00000313940.2|+|1|634|c.587_588insG|c.(586-588)gtafs|p.Q197fs|0.435|CTTTCTTTGTACAGGTCATG||||||||||||||||||||||||||68|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BK004508|NM_001004729.1|NP_001004729.1|HGNC:15255|olfactory_%20_receptor_%20_family_%20_5_%20_subfamily_%20_AN_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"olfactory_%20_receptor_%2C__%20_family_%20_5_%2C__%20_subfamily_%20_AN_%2C__%20_member_%20_1"|||11q12.1|2015-12-09||2015-12-09|AB065806||390195|ENSG00000176495||NM_001004729|152|Olfactory_%20_receptors_%2C__%20_family_%20_5|CCDS31559|OTTHUMG00000167337|390195|615702|NM_001004729|Q8NGI8|ENSG00000176495|uc010rks.3|O5AN1_HUMAN||B9EIS2_%7C_Q6IEV4|Q8NGI8||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr11 62931299 indel.18818 T TC . PASS FUNCOTATION=[SLC22A25|hg19|chr11|62931299|62931300|FRAME_SHIFT_INS||INS|-|-|C|g.chr11:62931299_62931300insC|ENST00000306494.6|-|9|1641|c.1640_1641insG|c.(1639-1641)ctafs|p.*548fs|0.51|ACAGACCTATAGCACAGAGC|SLC22A10_ENST00000535888.1_INTRON/SLC22A10_ENST00000525620.1_INTRON|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC101316|NM_199352.3|NP_955384.3|HGNC:32935|solute_%20_carrier_%20_family_%20_22_%20_member_%20_25|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"MGI:2442751_%2C__%20_MGI:2385316_%2C__%20_MGI:3042283_%2C__%20_MGI:3645714_%2C__%20_MGI:3605624_%2C__%20_MGI:2442750"_%2C__%20_"solute_%20_carrier_%20_family_%20_22_%2C__%20_member_%20_25"|UST6_%2C__%20_HIMTP_%2C__%20_MGC120420||11q12.3|2015-12-08||2015-12-08|AY437532||387601|ENSG00000196600|17714910|NM_199352|752|Solute_%20_carriers|CCDS31592|OTTHUMG00000165340|387601|610792|NM_199352|Q6T423|ENSG00000196600|uc001nwr.2|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr11 63953121 rs3751122 G T . PASS FUNCOTATION=[STIP1|hg19|chr11|63953121|63953121|DE_NOVO_START_IN_FRAME||SNP|G|G|T|g.chr11:63953121G>T|ENST00000358794.5|+|1|||||0.6733167082294265|GCAACCCAGAGGCCCCGCAGC|STIP1_ENST00000305218.4_FIVE_PRIME_FLANK/STIP1_ENST00000538945.1_FIVE_PRIME_FLANK/STIP1_ENST00000543847.1_FIVE_PRIME_FLANK/STIP1_ENST00000540501.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471076|NM_001282652.1|NP_001269581.1|HGNC:11387|stress_%20_induced_%20_phosphoprotein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"stress-induced-phosphoprotein_%20_1"|HOP_%2C__%20_STI1|"Hsp70/Hsp90-organizing_%20_protein"|11q13.1|2016-10-05||2015-11-20|BC039299||10963|ENSG00000168439|1569099|NM_006819|769|Tetratricopeptide_%20_repeat_%20_domain_%20_containing|CCDS8058_%2C__%20_CCDS60827_%2C__%20_CCDS60828|OTTHUMG00000167789|10963|605063|NM_001282652|P31948|ENSG00000168439|uc001nyk.2|STIP1_HUMAN||B4DM70_%7C_F5H0T1_%7C_G3XAD8_%7C_Q3ZCU9_%7C_Q5TZU9|P31948|response_%20_to_%20_stress_%20_(GO:0006950)|Golgi_%20_apparatus_%20_(GO:0005794)_%7C_nucleus_%20_(GO:0005634)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr11 75694488 exm942121 C T . PASS FUNCOTATION=[UVRAG|hg19|chr11|75694488|75694488|DE_NOVO_START_IN_FRAME||SNP|C|C|T|g.chr11:75694488C>T|ENST00000533454.1|+|3|||||0.32169576059850374|TGAACTGGAACGGCAGAAGAA|UVRAG_ENST00000356136.3_MISSENSE_p.R253W/UVRAG_ENST00000531818.1_DE_NOVO_START_OUT_FRAME/UVRAG_ENST00000532130.1_DE_NOVO_START_OUT_FRAME/UVRAG_ENST00000528420.1_MISSENSE_p.R152W/UVRAG_ENST00000539288.1_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||188|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_soft_tissue(4)_%7C_urinary_tract(1)|||||||AP003168|||HGNC:12640|UV_%20_radiation_%20_resistance_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"UV_%20_radiation_%20_resistance_%20_associated_%20_gene"|VPS38|"beclin_%20_1_%20_binding_%20_protein"|11q13.5|2016-10-05||2012-11-15|X99050_%2C__%20_AB012958||7405|ENSG00000198382|9169138_%2C__%20_16799551_%2C__%20_18843052|NM_003369|823|C2_%20_domain_%20_containing|CCDS8241|OTTHUMG00000165319|7405|602493|NM_003369|Q9P2Y5|ENSG00000198382|uc001oxc.4|UVRAG_HUMAN||B3KTC1_%7C_O00392|Q9P2Y5|DNA_%20_repair_%20_(GO:0006281)_%7C_positive_%20_regulation_%20_of_%20_autophagy_%20_(GO:0010508)_%7C_SNARE_%20_complex_%20_assembly_%20_(GO:0035493)_%7C_viral_%20_entry_%20_into_%20_host_%20_cell_%20_(GO:0046718)|cytoplasm_%20_(GO:0005737)_%7C_early_%20_endosome_%20_(GO:0005769)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_lysosome_%20_(GO:0005764)_%7C_phagocytic_%20_vesicle_%20_(GO:0045335)_%7C_protein_%20_complex_%20_(GO:0043234)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr11 75694530 exm942122 A G . PASS FUNCOTATION=[UVRAG|hg19|chr11|75694530|75694530|DE_NOVO_START_OUT_FRAME||SNP|A|A|G|g.chr11:75694530A>G|ENST00000533454.1|+|3|||||0.34413965087281795|ATTACTGCATAAGCAACAAAT|UVRAG_ENST00000356136.3_MISSENSE_p.K267E/UVRAG_ENST00000531818.1_DE_NOVO_START_OUT_FRAME/UVRAG_ENST00000532130.1_DE_NOVO_START_OUT_FRAME/UVRAG_ENST00000539288.1_DE_NOVO_START_OUT_FRAME/UVRAG_ENST00000528420.1_MISSENSE_p.K166E|||||||||||||||||||||||||188|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_soft_tissue(4)_%7C_urinary_tract(1)|||||||AP003168|||HGNC:12640|UV_%20_radiation_%20_resistance_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"UV_%20_radiation_%20_resistance_%20_associated_%20_gene"|VPS38|"beclin_%20_1_%20_binding_%20_protein"|11q13.5|2016-10-05||2012-11-15|X99050_%2C__%20_AB012958||7405|ENSG00000198382|9169138_%2C__%20_16799551_%2C__%20_18843052|NM_003369|823|C2_%20_domain_%20_containing|CCDS8241|OTTHUMG00000165319|7405|602493|NM_003369|Q9P2Y5|ENSG00000198382|uc001oxc.4|UVRAG_HUMAN||B3KTC1_%7C_O00392|Q9P2Y5|DNA_%20_repair_%20_(GO:0006281)_%7C_positive_%20_regulation_%20_of_%20_autophagy_%20_(GO:0010508)_%7C_SNARE_%20_complex_%20_assembly_%20_(GO:0035493)_%7C_viral_%20_entry_%20_into_%20_host_%20_cell_%20_(GO:0046718)|cytoplasm_%20_(GO:0005737)_%7C_early_%20_endosome_%20_(GO:0005769)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_lysosome_%20_(GO:0005764)_%7C_phagocytic_%20_vesicle_%20_(GO:0045335)_%7C_protein_%20_complex_%20_(GO:0043234)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr11 78282425 exm944472 G C . PASS FUNCOTATION=[NARS2|hg19|chr11|78282425|78282425|DE_NOVO_START_OUT_FRAME||SNP|G|G|C|g.chr11:78282425G>C|ENST00000528850.1|-|2|||||0.3790523690773067|GCTTTCCAAAGATGACCCATC|NARS2_ENST00000281038.5_MISSENSE_p.S69C|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471076|||HGNC:26274|asparaginyl-tRNA_%20_synthetase_%20_2_%2C__%20_mitochondrial|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DFNB94|"deafness_%2C__%20_autosomal_%20_recessive_%20_94"_%2C__%20_"asparaginyl-tRNA_%20_synthetase_%20_2_%2C__%20_mitochondrial_%20_(putative)"|FLJ23441_%2C__%20_SLM5|"asparagine_%20_tRNA_%20_ligase_%20_2_%2C__%20_mitochondrial_%20_(putative)"|11q14.1|2017-09-15||2017-09-15|BC007800|6.1.1.22|79731|ENSG00000137513|15779907_%2C__%20_25807530|NM_024678|132_%7C_1152|Aminoacyl_%20_tRNA_%20_synthetases_%2C__%20_Class_%20_II_%7C_Deafness_%20_associated_%20_genes|CCDS8261_%2C__%20_CCDS58164|OTTHUMG00000166702|79731|612803|NM_001243251|Q96I59|ENSG00000137513|uc001ozi.3|SYNM_HUMAN|L-Asparagine(DB00174)|G3V178|Q96I59|asparaginyl-tRNA_%20_aminoacylation_%20_(GO:0006421)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_tRNA_%20_aminoacylation_%20_for_%20_protein_%20_translation_%20_(GO:0006418)|mitochondrion_%20_(GO:0005739)|asparagine-tRNA_%20_ligase_%20_activity_%20_(GO:0004816)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_nucleic_%20_acid_%20_binding_%20_(GO:0003676)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr11 111753117 indel.21284 C CGT . PASS FUNCOTATION=[C11orf1|hg19|chr11|111753117|111753118|FRAME_SHIFT_INS||INS|-|-|GT|g.chr11:111753117_111753118insGT|ENST00000530214.1|+|2|90|c.71_72insGT|c.(70-72)acafs|p.N25fs|0.4425|GTTTCCTCACAAACCCACAC|C11orf1_ENST00000528125.1_FIVE_PRIME_UTR/C11orf1_ENST00000260276.3_FRAME_SHIFT_INS_p.N25fs/C11orf1_ENST00000529270.1_FRAME_SHIFT_INS_p.N65fs/FDXACB1_ENST00000260257.4_FIVE_PRIME_FLANK/FDXACB1_ENST00000542429.1_FIVE_PRIME_FLANK/ALG9_ENST00000524880.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AP001781|||HGNC:1163|chromosome_%20_11_%20_open_%20_reading_%20_frame_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ23499||11q23.1|2017-07-07|||AJ250229||64776|ENSG00000137720|10873569|NM_022761|||CCDS8350_%2C__%20_CCDS81625|OTTHUMG00000166884|64776||NM_022761|Q9H5F2|ENSG00000137720|uc001pmd.4|CK001_HUMAN||Q6I9X7_%7C_Q9NQC6|Q9H5F2||nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr11 113565234 exm956500 G A . PASS FUNCOTATION=[TMPRSS5|hg19|chr11|113565234|113565234|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr11:113565234G>A|ENST00000536856.1|-|6|||||0.5586034912718204|ACCACCCAGCGTGGCGCTAGC|TMPRSS5_ENST00000299882.5_MISSENSE_p.R251C/TMPRSS5_ENST00000540540.1_DE_NOVO_START_OUT_FRAME/TMPRSS5_ENST00000545579.1_MISSENSE_p.R242C/TMPRSS5_ENST00000538955.1_MISSENSE_p.R207C/TMPRSS5_ENST00000544634.1_INTRON/TMPRSS5_ENST00000544476.1_INTRON/TMPRSS5_ENST00000545265.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CH471065|||HGNC:14908|transmembrane_%20_protease_%2C__%20_serine_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC141886_%2C__%20_MGC148044|"spinesin"|11q23.2|2016-10-05||2008-07-31|AB028140||80975|ENSG00000166682||NM_030770|1404_%7C_738|Scavenger_%20_receptor_%20_cysteine_%20_rich_%20_domain_%20_containing_%7C_Proteases_%2C__%20_serine|CCDS44735_%2C__%20_CCDS73390_%2C__%20_CCDS73391_%2C__%20_CCDS73392_%2C__%20_CCDS73393|OTTHUMG00000168186|80975|606751|NM_001288749|Q9H3S3|ENSG00000166682|uc001poc.6|TMPS5_HUMAN|||Q9H3S3|proteolysis_%20_(GO:0006508)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)|peptidase_%20_activity_%20_(GO:0008233)_%7C_scavenger_%20_receptor_%20_activity_%20_(GO:0005044)_%7C_serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr11 113565260 exm1695050 G A . PASS FUNCOTATION=[TMPRSS5|hg19|chr11|113565260|113565260|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr11:113565260G>A|ENST00000536856.1|-|6|||||0.5760598503740648|GCCCCCACACGTGTGCCGGAA|TMPRSS5_ENST00000299882.5_MISSENSE_p.T242M/TMPRSS5_ENST00000545579.1_MISSENSE_p.T233M/TMPRSS5_ENST00000540540.1_DE_NOVO_START_IN_FRAME/TMPRSS5_ENST00000538955.1_MISSENSE_p.T198M/TMPRSS5_ENST00000544634.1_INTRON/TMPRSS5_ENST00000544476.1_INTRON/TMPRSS5_ENST00000545265.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CH471065|||HGNC:14908|transmembrane_%20_protease_%2C__%20_serine_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC141886_%2C__%20_MGC148044|"spinesin"|11q23.2|2016-10-05||2008-07-31|AB028140||80975|ENSG00000166682||NM_030770|1404_%7C_738|Scavenger_%20_receptor_%20_cysteine_%20_rich_%20_domain_%20_containing_%7C_Proteases_%2C__%20_serine|CCDS44735_%2C__%20_CCDS73390_%2C__%20_CCDS73391_%2C__%20_CCDS73392_%2C__%20_CCDS73393|OTTHUMG00000168186|80975|606751|NM_001288749|Q9H3S3|ENSG00000166682|uc001poc.6|TMPS5_HUMAN|||Q9H3S3|proteolysis_%20_(GO:0006508)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)|peptidase_%20_activity_%20_(GO:0008233)_%7C_scavenger_%20_receptor_%20_activity_%20_(GO:0005044)_%7C_serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr12 11243923 indel.23289 TTTCACC T . PASS FUNCOTATION=[TAS2R43|hg19|chr12|11243924|11243929|IN_FRAME_DEL||DEL|TTCACC|TTCACC|-|g.chr12:11243924_11243929delTTCACC|ENST00000531678.1|-|1|990_995|c.900_905delGGTGAA|c.(898-906)tgggtgaaa>tga|p.300_302WVK>*|0.35714285714285715|CTTCTCTCCTTTCACCCAGTACCTCA|TAS2R14_ENST00000381852.4_INTRON/PRR4_ENST00000536668.1_INTRON|||||||||||||||||||||||||1|haematopoietic_and_lymphoid_tissue(1)|||||||BC117423|NM_176884.2|NP_795365.2|HGNC:18875|taste_%20_2_%20_receptor_%20_member_%20_43|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"taste_%20_receptor_%2C__%20_type_%20_2_%2C__%20_member_%20_43"|T2R52||12p13.2|2015-12-16||2015-12-16|AF494237||259289||12379855|NM_176884|1162|Taste_%20_2_%20_receptors|CCDS53749||259289|612668|NM_176884|P59537|ENSG00000255374|uc001qzq.1|T2R43_HUMAN||P59546_%7C_Q645X4|P59537|detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_bitter_%20_taste_%20_(GO:0001580)_%7C_G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_motile_%20_cilium_%20_(GO:0031514)_%7C_plasma_%20_membrane_%20_(GO:0005886)|bitter_%20_taste_%20_receptor_%20_activity_%20_(GO:0033038)_%7C_taste_%20_receptor_%20_activity_%20_(GO:0008527)||||true|false||false|false|||false|false|false|PRH1-TAS2R14:106707243_%7C_TAS2R43:259289_%7C_PRH1:5554_%7C_PRH1-PRR4:100533464|false|true|true|false|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|867813065|11243924|false|false|0|false|0|false||false|false|false|DIV|false|0x050000080005000402000210|1|false|147|rs867813065|] -chr12 29597130 indel.23912 T TA . PASS FUNCOTATION=[OVCH1|hg19|chr12|29597130|29597131|FRAME_SHIFT_INS||INS|-|-|A|g.chr12:29597130_29597131insA|ENST00000318184.5|-|24|2965|c.2964_2965insT|c.(2965-2967)aagfs|p.K989fs|0.3825|CTTCTGGCTTGGTCAGAAGA|OVCH1-AS1_ENST00000551108.1_INTRON/OVCH1-AS1_ENST00000549411.1_INTRON|||||||||||||||||||||||||205|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(23)_%7C_large_intestine(36)_%7C_pancreas(112)|||||||BN000128|NM_183378.2|NP_899234.2|HGNC:23080|ovochymase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||OVCH||12p11.22|2016-10-05|||BN000128||341350|ENSG00000187950|12838346|NM_183378||||OTTHUMG00000167741|341350||XM_011520638|Q7RTY7|ENSG00000187950|uc001rix.2|OVCH1_HUMAN|||Q7RTY7||extracellular_%20_region_%20_(GO:0005576)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr12 52201139 indel.24708 A AC . PASS FUNCOTATION=[SCN8A|hg19|chr12|52201139|52201140|FRAME_SHIFT_INS||INS|-|-|C|g.chr12:52201139_52201140insC|ENST00000354534.6|+|27|6047|c.5869_5870insC|c.(5869-5871)aaafs|p.K1957fs|0.465|GAAAAGGAGAAACAGCAGCG|SCN8A_ENST00000545061.1_FRAME_SHIFT_INS_p.K1916fs/AC068987.1_ENST00000599343.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||22|central_nervous_system(22)|||||||FJ611941|NM_014191.3|NP_055006.1|HGNC:10596|sodium_%20_voltage-gated_%20_channel_%20_alpha_%20_subunit_%20_8|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MED|"sodium_%20_channel_%2C__%20_voltage_%20_gated_%2C__%20_type_%20_VIII_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"sodium_%20_channel_%2C__%20_voltage_%20_gated_%2C__%20_type_%20_VIII_%2C__%20_alpha_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_voltage_%20_gated_%2C__%20_type_%20_VIII_%20_alpha_%20_subunit"|Nav1.6_%2C__%20_NaCh6_%2C__%20_PN4_%2C__%20_CerIII_%2C__%20_CIAT||12q13.13|2017-05-10||2016-02-05|AB027567||6334|ENSG00000196876|7670495_%2C__%20_9828131_%2C__%20_16382098|NM_014191|1203|Sodium_%20_voltage-gated_%20_channel_%20_alpha_%20_subunits|CCDS44891_%2C__%20_CCDS53794_%2C__%20_CCDS81692|OTTHUMG00000169490|6334|600702|NM_001177984|Q9UQD0|ENSG00000196876|uc001ryw.4|SCN8A_HUMAN|Valproic_%20_Acid(DB00313)|B9VWG8_%7C_O95788_%7C_Q9NYX2_%7C_Q9UPB2|Q9UQD0|adult_%20_walking_%20_behavior_%20_(GO:0007628)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_membrane_%20_depolarization_%20_during_%20_action_%20_potential_%20_(GO:0086010)_%7C_muscle_%20_organ_%20_development_%20_(GO:0007517)_%7C_myelination_%20_(GO:0042552)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_neuromuscular_%20_process_%20_(GO:0050905)_%7C_neuronal_%20_action_%20_potential_%20_(GO:0019228)_%7C_peripheral_%20_nervous_%20_system_%20_development_%20_(GO:0007422)_%7C_response_%20_to_%20_toxic_%20_substance_%20_(GO:0009636)_%7C_sensory_%20_perception_%20_of_%20_sound_%20_(GO:0007605)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)|axon_%20_initial_%20_segment_%20_(GO:0043194)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_dendrite_%20_(GO:0030425)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_node_%20_of_%20_Ranvier_%20_(GO:0033268)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_voltage-gated_%20_sodium_%20_channel_%20_complex_%20_(GO:0001518)_%7C_Z_%20_disc_%20_(GO:0030018)|ATP_%20_binding_%20_(GO:0005524)_%7C_voltage-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0005248)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr12 53699726 indel.24975 T TA . PASS FUNCOTATION=[C12orf10|hg19|chr12|53699726|53699727|FRAME_SHIFT_INS||INS|-|-|A|g.chr12:53699726_53699727insA|ENST00000549488.1|+|2|205|c.35_36insA|c.(34-36)gtgfs|p.D13fs|0.515|TGGATGCTGTGGACAATGGG|C12orf10_ENST00000267103.5_FRAME_SHIFT_INS_p.D176fs/C12orf10_ENST00000548632.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||AC073611|||HGNC:17590|chromosome_%20_12_%20_open_%20_reading_%20_frame_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MYG_%2C__%20_MYG1_%2C__%20_Gamm1|"melanocyte_%20_related_%20_gene"_%2C__%20_"melanocyte_%20_proliferating_%20_gene_%20_1"|12q13.13|2017-08-04|||AF289485||60314|ENSG00000139637|16996721|NM_021640|||CCDS31810|OTTHUMG00000170030|60314|611366|NM_021640|Q9HB07|ENSG00000139637|uc001scp.5|MYG1_HUMAN|||Q9HB07|locomotory_%20_exploration_%20_behavior_%20_(GO:0035641)_%7C_pigmentation_%20_(GO:0043473)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr12 54405153 indel.25064 A AC . PASS FUNCOTATION=[HOXC8|hg19|chr12|54405153|54405154|FRAME_SHIFT_INS||INS|-|-|C|g.chr12:54405153_54405154insC|ENST00000040584.4|+|2|954|c.717_718insC|c.(718-720)aacfs|p.N240fs|0.44|AAAGGAAGAAAACAAGGACT|RP11-834C11.12_ENST00000513209.1_INTRON/HOXC6_ENST00000394331.3_FIVE_PRIME_FLANK|GBM(197_%3B_701_%20_2226_%20_7002_%20_18822_%20_41696)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X99681|NM_022658.3|NP_073149.1|HGNC:5129|homeobox_%20_C8|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HOX3_%2C__%20_HOX3A|"homeo_%20_box_%20_C8"|||12q13.13|2015-08-25||2005-12-22|X99680||3224||1973146_%2C__%20_1358459||518|HOXL_%20_subclass_%20_homeoboxes|CCDS8870||3224|142970|NM_022658|P31273|ENSG00000037965|uc001ser.4|HXC8_HUMAN||A8K4J4_%7C_O15221_%7C_O15362|P31273|anterior/posterior_%20_pattern_%20_specification_%20_(GO:0009952)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_neuron_%20_differentiation_%20_(GO:0030182)_%7C_skeletal_%20_system_%20_morphogenesis_%20_(GO:0048705)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|microtubule_%20_cytoskeleton_%20_(GO:0015630)_%7C_nucleus_%20_(GO:0005634)|sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr12 55248357 rs1048371 G T . PASS FUNCOTATION=[MUCL1|hg19|chr12|55248357|55248357|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr12:55248357G>T|ENST00000308796.6|+|1|||||0.44389027431421446|CTGATCTTCAGGTCACCACCA|MUCL1_ENST00000546809.1_INTRON/MUCL1_ENST00000547990.1_INTRON|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC111421|NM_058173.2|NP_477521.1|HGNC:30588|mucin_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SBEM|"small_%20_breast_%20_epithelial_%20_mucin"|12q13.2|2016-01-15||2016-01-15|AF414087||118430||12019145|NM_058173|||CCDS8885||118430|610857|NM_058173|Q96DR8|ENSG00000172551|uc001sgk.4|MUCL1_HUMAN||Q0VG95_%7C_Q32ZB5|Q96DR8|cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_region_%20_(GO:0005576)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_membrane_%20_(GO:0016020)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr12 68719304 exm1020408 T C . PASS FUNCOTATION=[MDM1|hg19|chr12|68719304|68719304|DE_NOVO_START_OUT_FRAME||SNP|T|T|C|g.chr12:68719304T>C|ENST00000540418.1|-|3|||||0.3192019950124688|CTCAAGGCATTATATGAAGGA|MDM1_ENST00000411698.2_INTRON/MDM1_ENST00000303145.7_MISSENSE_p.N184D/MDM1_ENST00000393543.3_THREE_PRIME_UTR/MDM1_ENST00000430606.2_THREE_PRIME_UTR/MDM1_ENST00000545724.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AC022511|||HGNC:29917|Mdm1_%20_nuclear_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Mdm4_%2C__%20_transformed_%20_3T3_%20_cell_%20_double_%20_minute_%20_1_%2C__%20_p53_%20_binding_%20_protein_%20_(mouse)"_%2C__%20_"Mdm1_%20_nuclear_%20_protein_%20_homolog_%20_(mouse)"|||12q15|2015-06-19||2015-06-19|AF007130||56890||8619474_%2C__%20_9110174|NM_020128|||CCDS8983_%2C__%20_CCDS44938_%2C__%20_CCDS55841_%2C__%20_CCDS55842||56890|613813|NM_001205028|Q8TC05|ENSG00000111554|uc001stz.3|MDM1_HUMAN||B4DM65_%7C_E7EPQ3_%7C_O43406_%7C_Q8WTV9_%7C_Q9NR04|Q8TC05|retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)|nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr12 100452662 indel.26607 G GA . PASS FUNCOTATION=[UHRF1BP1L|hg19|chr12|100452662|100452663|FRAME_SHIFT_INS||INS|-|-|A|g.chr12:100452662_100452663insA|ENST00000279907.7|-|14|2606|c.2392_2393insT|c.(2392-2394)cctfs|p.P798fs|0.4025|GACGAGGAAGGGGAAAATCT|UHRF1BP1L_ENST00000545232.2_FRAME_SHIFT_INS_p.P448fs|||||||||||||||||||||||||25|breast(1)_%7C_central_nervous_system(22)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_lung(1)|||||||BC127017|NM_015054.1|NP_055869.1|HGNC:29102|UHRF1_%20_binding_%20_protein_%20_1_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA0701||12q23.1|2016-03-02||2016-03-02|||23074|ENSG00000111647||NM_001006947|||CCDS31882_%2C__%20_CCDS31883|OTTHUMG00000170195|23074||NM_001006947|A0JNW5|ENSG00000111647|uc001tgq.4|UH1BL_HUMAN||A0PJE5_%7C_O75183_%7C_Q8NDL1_%7C_Q96C30_%7C_Q9BTS5_%7C_Q9H0F1|A0JNW5|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr12 111993688 exm1037604 G A . PASS FUNCOTATION=[ATXN2|hg19|chr12|111993688|111993688|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr12:111993688G>A|ENST00000542287.2|-|2|||||0.32169576059850374|GTTACTCACCGTAGACTGAGG|ATXN2_ENST00000377617.3_SPLICE_SITE_p.T256M/ATXN2_ENST00000389153.4_DE_NOVO_START_IN_FRAME/ATXN2_ENST00000608853.1_SPLICE_SITE_p.T96M/ATXN2_ENST00000535949.1_INTRON/ATXN2_ENST00000550104.1_SPLICE_SITE_p.T256M/ATXN2_ENST00000549455.1_INTRON|||||||||||||||||||||||||203|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_large_intestine(35)_%7C_pancreas(22)|||||||BC111757|||HGNC:10555|ataxin_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SCA2_%2C__%20_TNRC13|"spinocerebellar_%20_ataxia_%20_2_%20_(olivopontocerebellar_%20_ataxia_%20_2_%2C__%20_autosomal_%20_dominant_%2C__%20_ataxin_%20_2)"|ATX2|"trinucleotide_%20_repeat_%20_containing_%20_13"|12q24.12|2017-03-24|2004-08-13|2004-08-12|U80749||6311|ENSG00000204842|8358438_%2C__%20_9225980|NM_002973|411_%7C_775|Ataxins_%7C_Trinucleotide_%20_repeat_%20_containing|CCDS31902_%2C__%20_CCDS81738_%2C__%20_CCDS81739|OTTHUMG00000133475|6311|601517|NM_001310121|Q99700|ENSG00000204842|uc001tsj.3|ATX2_HUMAN||A6NLD4_%7C_Q6ZQZ7_%7C_Q99493|Q99700|cell_%20_death_%20_(GO:0008219)_%7C_cerebellar_%20_Purkinje_%20_cell_%20_differentiation_%20_(GO:0021702)_%7C_cytoplasmic_%20_mRNA_%20_processing_%20_body_%20_assembly_%20_(GO:0033962)_%7C_homeostasis_%20_of_%20_number_%20_of_%20_cells_%20_(GO:0048872)_%7C_negative_%20_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040015)_%7C_negative_%20_regulation_%20_of_%20_receptor_%20_internalization_%20_(GO:0002091)_%7C_neuromuscular_%20_process_%20_(GO:0050905)_%7C_neuron_%20_projection_%20_morphogenesis_%20_(GO:0048812)_%7C_regulation_%20_of_%20_translation_%20_(GO:0006417)_%7C_RNA_%20_metabolic_%20_process_%20_(GO:0016070)_%7C_RNA_%20_transport_%20_(GO:0050658)_%7C_stress_%20_granule_%20_assembly_%20_(GO:0034063)|cytoplasm_%20_(GO:0005737)_%7C_cytoplasmic_%20_stress_%20_granule_%20_(GO:0010494)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_polysome_%20_(GO:0005844)_%7C_ribonucleoprotein_%20_complex_%20_(GO:0030529)_%7C_trans-Golgi_%20_network_%20_(GO:0005802)|epidermal_%20_growth_%20_factor_%20_receptor_%20_binding_%20_(GO:0005154)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_protein_%20_C-terminus_%20_binding_%20_(GO:0008022)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr12 120111850 exm2250630 C T . PASS FUNCOTATION=[PRKAB1|hg19|chr12|120111850|120111850|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr12:120111850C>T|ENST00000540121.1|+|3|||||0.5361596009975063|AGTGGACGCACGACCCTTCCG|PRKAB1_ENST00000229328.5_SILENT_p.H135H/PRKAB1_ENST00000541640.1_SILENT_p.H135H|||||||||||||||||||||||||875|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(323)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_upper_aerodigestive_tract(72)|||||||AC002563|||HGNC:9378|protein_%20_kinase_%20_AMP-activated_%20_non-catalytic_%20_subunit_%20_beta_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%2C__%20_AMP-activated_%2C__%20_beta_%20_1_%20_non-catalytic_%20_subunit"||"AMPK_%20_beta_%20_1"|12q24.23|2016-10-05||2016-01-27|BC001823||5564|ENSG00000111725|8557660|NM_006253|||CCDS9191|OTTHUMG00000168954|5564|602740|NM_006253|Q9Y478|ENSG00000111725|uc001txg.4|AAKB1_HUMAN|Acetylsalicylic_%20_acid(DB00945)_%7C_Adenosine_%20_monophosphate(DB00131)_%7C_Metformin(DB00331)|Q9UBV0_%7C_Q9UE20_%7C_Q9UEX2_%7C_Q9Y6V8|Q9Y478|cell_%20_cycle_%20_arrest_%20_(GO:0007050)_%7C_fatty_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0006633)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_membrane_%20_organization_%20_(GO:0061024)_%7C_positive_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0010628)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_catalytic_%20_activity_%20_(GO:0050790)_%7C_signal_%20_transduction_%20_(GO:0007165)|AMP-activated_%20_protein_%20_kinase_%20_complex_%20_(GO:0031588)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)|protein_%20_kinase_%20_activity_%20_(GO:0004672)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr12 122977328 exm1046212 A C . PASS FUNCOTATION=[ZCCHC8|hg19|chr12|122977328|122977328|DE_NOVO_START_OUT_FRAME||SNP|A|A|C|g.chr12:122977328A>C|ENST00000543897.1|-|2|||||0.3266832917705736|ATCGTTCACCAATATTCCACT|ZCCHC8_ENST00000536306.1_DE_NOVO_START_OUT_FRAME/ZCCHC8_ENST00000336229.4_MISSENSE_p.L84W/SNORA9_ENST00000516383.1_FIVE_PRIME_FLANK|||||||||||||||||||||||ZCCHC8{ENST00000336229}:r.1_373_ROS1{ENST00000368508}:r.5977_7435(2)||128|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_skin(38)|||||||BC065918|||HGNC:25265|zinc_%20_finger_%20_CCHC-type_%20_containing_%20_8|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||DKFZp434E2220||12q24.31|2016-02-12||2016-02-12|BC017704||55596||16263084_%2C__%20_21855801|NM_017612|1316_%7C_74|Nuclear_%20_exosome_%20_targeting_%20_complex_%7C_Zinc_%20_fingers_%20_CCHC-type|||55596|616381|NM_017612|Q6NZY4|ENSG00000033030|uc284ngs.1|ZCHC8_HUMAN||Q7L2P6_%7C_Q8N2K5_%7C_Q96SK7_%7C_Q9NSS2_%7C_Q9NSS3|Q6NZY4|mRNA_%20_splicing_%2C__%20_via_%20_spliceosome_%20_(GO:0000398)|catalytic_%20_step_%20_2_%20_spliceosome_%20_(GO:0071013)_%7C_nucleus_%20_(GO:0005634)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr12 133727648 indel.28471 T TA . PASS FUNCOTATION=[ZNF10|hg19|chr12|133727648|133727649|FRAME_SHIFT_INS||INS|-|-|A|g.chr12:133727648_133727649insA|ENST00000248211.6|+|3|290|c.68_69insA|c.(67-69)ttcfs|p.F23fs|0.44|TTGTGGACTTCACCAGGGAG|ZNF10_ENST00000426665.2_FRAME_SHIFT_INS_p.F23fs/CTD-2140B24.4_ENST00000540096.2_FRAME_SHIFT_INS_p.F23fs/ZNF10_ENST00000402932.2_FRAME_SHIFT_INS_p.F23fs/ZNF268_ENST00000416488.1_FRAME_SHIFT_INS_p.F23fs/ZNF10_ENST00000540927.1_INTRON|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||X52332|NM_015394.4|NP_056209.2|HGNC:12879|zinc_%20_finger_%20_protein_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"zinc_%20_finger_%20_protein_%20_10_%20_(KOX_%20_1)"|KOX1||12q24.33|2014-11-19||2005-05-22|X52332_%2C__%20_BC024182||7556|ENSG00000256223|7865130_%2C__%20_8262519|NM_015394|28|Zinc_%20_fingers_%20_C2H2-type|CCDS9283|OTTHUMG00000167944|7556|194538|NM_015394|P21506|ENSG00000256223|uc001ulq.4|ZNF10_HUMAN||B2RBS1_%7C_Q8TC91|P21506|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr12 133780295 indel.28489 A AC . PASS FUNCOTATION=[ZNF268|hg19|chr12|133780295|133780296|FRAME_SHIFT_INS||INS|-|-|C|g.chr12:133780295_133780296insC|ENST00000536435.2|+|6|2353|c.2023_2024insC|c.(2023-2025)aaafs|p.K675fs|0.4025|CAATGTGCAAAAACCTTTAG|ZNF268_ENST00000228289.5_FRAME_SHIFT_INS_p.K675fs/ZNF268_ENST00000541009.2_THREE_PRIME_UTR/ZNF268_ENST00000542986.2_THREE_PRIME_UTR/ZNF268_ENST00000536899.2_THREE_PRIME_UTR/ZNF268_ENST00000537565.1_FRAME_SHIFT_INS_p.K514fs|||||||||||||||||||||||||22|central_nervous_system(22)|||||||X78926|NM_003415.2|NP_003406.1|HGNC:13061|zinc_%20_finger_%20_protein_%20_268|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||HZF3||12q24.33|2016-11-09|||X78926||10795|ENSG00000090612|7865130|NM_152943|28|Zinc_%20_fingers_%20_C2H2-type|CCDS45012_%2C__%20_CCDS53851_%2C__%20_CCDS53852_%2C__%20_CCDS53853_%2C__%20_CCDS53854_%2C__%20_CCDS59239_%2C__%20_CCDS59240|OTTHUMG00000167946|10795|604753|NM_001165881|Q14587|ENSG00000090612|uc010tcf.3|ZN268_HUMAN||Q8TDG8_%7C_Q96RH4_%7C_Q9BZJ9|Q14587|cell_%20_differentiation_%20_(GO:0030154)_%7C_cellular_%20_response_%20_to_%20_tumor_%20_necrosis_%20_factor_%20_(GO:0071356)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_cycle_%20_arrest_%20_(GO:0071157)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045597)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_migration_%20_(GO:0030335)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_catabolic_%20_process_%20_(GO:0045732)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_homodimerization_%20_activity_%20_(GO:0090073)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_phosphorylation_%20_(GO:0001934)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_during_%20_mitosis_%20_(GO:0046022)_%7C_regulation_%20_of_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0007346)_%7C_regulation_%20_of_%20_protein_%20_heterodimerization_%20_activity_%20_(GO:0043497)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_release_%20_of_%20_cytoplasmic_%20_sequestered_%20_NF-kappaB_%20_(GO:0008588)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr13 21714654 exm1792536 A G . PASS FUNCOTATION=[SAP18|hg19|chr13|21714654|21714654|DE_NOVO_START_OUT_FRAME||SNP|A|A|G|g.chr13:21714654A>G|ENST00000382533.4|+|1|||||0.6259351620947631|GGCCGACTATAAAGTGTCGAG|SAP18_ENST00000607003.1_FIVE_PRIME_FLANK/SAP18_ENST00000485646.1_FIVE_PRIME_FLANK/SNORD27_ENST00000516319.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U96915|NM_005870.4|NP_005861.2|HGNC:10530|Sin3A_%20_associated_%20_protein_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sin3A-associated_%20_protein_%2C__%20_18kDa"|SAP18p_%2C__%20_2HOR0202_%2C__%20_MGC27131||13q12.11|2016-06-01||2016-06-01|U96915||10284|ENSG00000150459|9150135|NM_005870|1508_%7C_1236_%7C_1510_%7C_1306|Spliceosomal_%20_Bact_%20_complex_%7C_ASAP_%20_complex_%7C_Spliceosomal_%20_C_%20_complex_%7C_SIN3_%20_histone_%20_deacetylase_%20_complex|CCDS9295|OTTHUMG00000016535|10284|602949|NM_005870|O00422|ENSG00000150459|uc058vuw.1|SAP18_HUMAN||B2R494_%7C_Q2TTR4_%7C_Q6IAW9_%7C_Q8N606_%7C_Q9UF14|O00422|mRNA_%20_processing_%20_(GO:0006397)_%7C_negative_%20_regulation_%20_of_%20_mRNA_%20_splicing_%2C__%20_via_%20_spliceosome_%20_(GO:0048025)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_regulation_%20_of_%20_alternative_%20_mRNA_%20_splicing_%2C__%20_via_%20_spliceosome_%20_(GO:0000381)_%7C_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006357)_%7C_RNA_%20_splicing_%20_(GO:0008380)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|ASAP_%20_complex_%20_(GO:0061574)_%7C_cytoplasm_%20_(GO:0005737)_%7C_histone_%20_deacetylase_%20_complex_%20_(GO:0000118)_%7C_nuclear_%20_speck_%20_(GO:0016607)_%7C_nucleus_%20_(GO:0005634)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr13 37427618 indel.29113 G GT . PASS FUNCOTATION=[SMAD9|hg19|chr13|37427618|37427619|FRAME_SHIFT_INS||INS|-|-|T|g.chr13:37427618_37427619insT|ENST00000350148.5|-|5|1396|c.1086_1087insA|c.(1087-1089)cacfs|p.H363fs|0.475|CAAAGCCGTGGTGAACTGAC|SMAD9_ENST00000399275.2_FRAME_SHIFT_INS_p.H400fs/SMAD9_ENST00000379826.4_FRAME_SHIFT_INS_p.H400fs/SMAD9-AS1_ENST00000437983.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||373|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||D83761|NM_005905.5|NP_005896.1|HGNC:6774|SMAD_%20_family_%20_member_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MADH6_%2C__%20_MADH9|"MAD_%2C__%20_mothers_%20_against_%20_decapentaplegic_%20_homolog_%20_9_%20_(Drosophila)"_%2C__%20_"SMAD_%2C__%20_mothers_%20_against_%20_DPP_%20_homolog_%20_9_%20_(Drosophila)"|SMAD8_%2C__%20_SMAD8/9||13q13.3|2017-03-24|2004-05-26|2006-11-06|||4093|ENSG00000120693|9205116|NM_005905|750|SMAD_%20_family|CCDS9360_%2C__%20_CCDS45032|OTTHUMG00000016740|4093|603295|NM_001127217|O15198|ENSG00000120693|uc001uvw.3|SMAD9_HUMAN||A2A2Y6_%7C_O14989_%7C_Q5TBA1|O15198|BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_development_%20_(GO:0060348)_%7C_cartilage_%20_development_%20_(GO:0051216)_%7C_cellular_%20_response_%20_to_%20_organic_%20_cyclic_%20_compound_%20_(GO:0071407)_%7C_hindbrain_%20_development_%20_(GO:0030902)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_midbrain_%20_development_%20_(GO:0030901)_%7C_Mullerian_%20_duct_%20_regression_%20_(GO:0001880)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045597)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_ureteric_%20_bud_%20_development_%20_(GO:0001657)|cytosol_%20_(GO:0005829)_%7C_intracellular_%20_(GO:0005622)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%2C__%20_pathway-specific_%20_cytoplasmic_%20_mediator_%20_activity_%20_(GO:0030618)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr13 76335079 exm2251544 C T . PASS FUNCOTATION=[LMO7|hg19|chr13|76335079|76335079|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr13:76335079C>T|ENST00000321797.8|+|2|||||0.3516209476309227|ATAATATAAACGTTTTCTTGA|LMO7_ENST00000465261.2_DE_NOVO_START_OUT_FRAME/LMO7_ENST00000341547.4_SILENT_p.N126N/LMO7_ENST00000526202.1_SILENT_p.N35N/LMO7_ENST00000357063.3_SILENT_p.N126N/LMO7_ENST00000377534.3_SILENT_p.N126N/RP11-29G8.3_ENST00000563635.1_RNA|||||||||||||||||||||||||585|biliary_tract(2)_%7C_breast(222)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_lung(134)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL359392|||HGNC:6646|LIM_%20_domain_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FBXO20|"LIM_%20_domain_%20_only_%20_7"|FBX20_%2C__%20_KIAA0858|"F-box_%20_only_%20_protein_%20_20"|13q22.2|2014-11-19||2004-06-15|AF092557||4008|ENSG00000136153|9826547_%2C__%20_10531035|NM_005358|1218_%7C_1220|LIM_%20_domain_%20_containing_%7C_PDZ_%20_domain_%20_containing|CCDS9454_%2C__%20_CCDS53876_%2C__%20_CCDS81773_%2C__%20_CCDS81774|OTTHUMG00000017093|4008|604362|NM_001306080|Q8WWI1|ENSG00000136153|uc010thv.4|LMO7_HUMAN||E9PLH4_%7C_O15462_%7C_O95346_%7C_Q5TBK6_%7C_Q9UKC1_%7C_Q9UQM5_%7C_Q9Y6A7|Q8WWI1|protein_%20_ubiquitination_%20_(GO:0016567)|cytoplasm_%20_(GO:0005737)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_nucleus_%20_(GO:0005634)_%7C_ubiquitin_%20_ligase_%20_complex_%20_(GO:0000151)|ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr14 31917379 indel.31575 T TGG . PASS FUNCOTATION=[DTD2|hg19|chr14|31917379|31917380|FRAME_SHIFT_INS||INS|-|-|GG|g.chr14:31917379_31917380insGG|ENST00000310850.4|-|3|580|c.462_463insCC|c.(463-465)aagfs|p.K155fs|0.365|TGTCCAGCTTTAACACCTGC|RP11-176H8.1_ENST00000547378.1_INTRON/DTD2_ENST00000356180.4_FRAME_SHIFT_INS_p.K155fs/CTD-2213F21.2_ENST00000502430.2_RNA|||||||||||||||||||||||||||||||||CH471078|NM_080664.2|NP_542395.1|HGNC:20277|D-tyrosyl-tRNA_%20_deacylase_%20_2_%20_(putative)|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C14orf126|"chromosome_%20_14_%20_open_%20_reading_%20_frame_%20_126"|MGC9912||14q12|2014-11-18|2012-09-25|2012-09-25|BC010618||112487|ENSG00000129480||NM_080664|||CCDS9643|OTTHUMG00000140205|112487||NM_080664|Q96FN9|ENSG00000129480|uc001wrj.5|DTD2_HUMAN||D3DS87|Q96FN9|D-amino_%20_acid_%20_catabolic_%20_process_%20_(GO:0019478)|cytoplasm_%20_(GO:0005737)|hydrolase_%20_activity_%2C__%20_acting_%20_on_%20_ester_%20_bonds_%20_(GO:0016788)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr14 37717112 variant.31677 G T . PASS FUNCOTATION=[MIPOL1|hg19|chr14|37717112|37717112|DE_NOVO_START_IN_FRAME||SNP|G|G|T|g.chr14:37717112G>T|ENST00000556451.1|+|5|||||0.3690773067331671|CTGGTCAAAAGGTAAGGACTT|MIPOL1_ENST00000327441.7_SPLICE_SITE_p.D7Y/MIPOL1_ENST00000539062.2_DE_NOVO_START_OUT_FRAME/MIPOL1_ENST00000537471.1_SPLICE_SITE_p.D7Y/MIPOL1_ENST00000396294.2_SPLICE_SITE_p.D7Y/MIPOL1_ENST00000545536.1_DE_NOVO_START_IN_FRAME/MIPOL1_ENST00000536774.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471078|||HGNC:21460|mirror-image_%20_polydactyly_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CCDC193||14q13.3-q21.1|2017-06-08|||AY059470||145282|ENSG00000151338|11954550_%2C__%20_19667180|NM_138731|||CCDS9664|OTTHUMG00000140252|145282|606850|NM_001195296|Q8TD10|ENSG00000151338|uc001wuc.4|MIPO1_HUMAN||D3DSA4_%7C_Q7Z3J0_%7C_Q8IV14|Q8TD10||nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr14 55226890 exm1102672 G T . PASS FUNCOTATION=[SAMD4A|hg19|chr14|55226890|55226890|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr14:55226890G>T|ENST00000555192.1|+|2|||||0.6234413965087282|ACATCATCGAGGGGGGCAGCC|SAMD4A_ENST00000554335.1_MISSENSE_p.E396D/SAMD4A_ENST00000251091.5_MISSENSE_p.E308D/SAMD4A_ENST00000392067.3_MISSENSE_p.E396D/SAMD4A_ENST00000357634.3_MISSENSE_p.E395D|||||||||||||||||||||||||162|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(72)|||||||CH471061|NM_001161577.1|NP_001155049.1|HGNC:23023|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_4A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SAMD4|"sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_4"|KIAA1053_%2C__%20_DKFZP434H0350_%2C__%20_Smaug_%2C__%20_SMG_%2C__%20_SMGA_%2C__%20_hSmaug1|"smaug_%20_homolog_%20_(Drosophila)"|14q22.2|2016-04-25|2006-01-27|2006-01-27|AB028976||23034|ENSG00000020577|16221671|NM_015589|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS32084_%2C__%20_CCDS55917_%2C__%20_CCDS55918|OTTHUMG00000170999|23034|610747|NM_001161576|Q9UPU9|ENSG00000020577|uc001xbb.4|SMAG1_HUMAN||A8MPZ5_%7C_Q0VA96_%7C_Q6PEW4|Q9UPU9|negative_%20_regulation_%20_of_%20_translation_%20_(GO:0017148)_%7C_positive_%20_regulation_%20_of_%20_translation_%20_(GO:0045727)|cell_%20_junction_%20_(GO:0030054)_%7C_cytoplasm_%20_(GO:0005737)_%7C_neuron_%20_projection_%20_(GO:0043005)_%7C_synapse_%20_(GO:0045202)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_translation_%20_repressor_%20_activity_%20_(GO:0030371)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr14 90759194 indel.33340 T TC . PASS FUNCOTATION=[NRDE2|hg19|chr14|90759194|90759195|FRAME_SHIFT_INS||INS|-|-|C|g.chr14:90759194_90759195insC|ENST00000354366.3|-|9|1922|c.1688_1689insG|c.(1687-1689)gaafs|p.E564fs|0.53|GTCATCCTCTTCTGGTTCAT|NRDE2_ENST00000357904.3_FRAME_SHIFT_INS_p.E333fs|||||||||||||||||||||||||||||||||BC098568|NM_017970.3|NP_060440.2|HGNC:20186|NRDE-2_%2C__%20_necessary_%20_for_%20_RNA_%20_interference_%2C__%20_domain_%20_containing|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C14orf102|"chromosome_%20_14_%20_open_%20_reading_%20_frame_%20_102"|FLJ14051||14q32.11|2014-11-19|2012-09-25|2012-09-25|AK000870||55051|ENSG00000119720||NM_017970|||CCDS9890|OTTHUMG00000171020|55051||NM_017970|Q9H7Z3|ENSG00000119720|uc001xyi.3|NRDE2_HUMAN||B4DH71_%7C_Q4G0A7_%7C_Q9NWH6|Q9H7Z3|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr15 43525779 indel.35182 C CAG . PASS FUNCOTATION=[TGM5|hg19|chr15|43525779|43525780|FRAME_SHIFT_INS||INS|-|-|AG|g.chr15:43525779_43525780insAG|ENST00000220420.5|-|12|1990|c.1981_1982insCT|c.(1981-1983)ggcfs|p.G661fs|0.5125|TTGAAGAGGCCACTTCCTTC|TGM5_ENST00000349114.4_FRAME_SHIFT_INS_p.G579fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC119009|NM_201631.3|NP_963925.2|HGNC:11781|transglutaminase_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||TGX||15q15.2|2016-01-15|||AF035960|2.3.2.13|9333|ENSG00000104055|9452468_%2C__%20_11390390|NM_004245|773|Transglutaminases|CCDS32211_%2C__%20_CCDS32212|OTTHUMG00000176488|9333|603805|NM_004245|O43548|ENSG00000104055|uc001zrd.2|TGM5_HUMAN|L-Glutamine(DB00130)|O43549_%7C_Q0VF40_%7C_Q9UEZ4|O43548|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)_%7C_epidermis_%20_development_%20_(GO:0008544)_%7C_peptide_%20_cross-linking_%20_(GO:0018149)|cytoplasm_%20_(GO:0005737)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_protein-glutamine_%20_gamma-glutamyltransferase_%20_activity_%20_(GO:0003810)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr15 43695952 indel.35239 C CA . PASS FUNCOTATION=[TUBGCP4|hg19|chr15|43695952|43695953|FRAME_SHIFT_INS||INS|-|-|A|g.chr15:43695952_43695953insA|ENST00000260383.7|+|16|2060|c.1806_1807insA|c.(1807-1809)ccafs|p.P603fs|0.45|GAACCTAGGCCCACTGGATG|TUBGCP4_ENST00000564079.1_FRAME_SHIFT_INS_p.P602fs/TUBGCP4_ENST00000399460.3_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471125|NM_001286414.1|NP_001273343.1|HGNC:16691|tubulin_%20_gamma_%20_complex_%20_associated_%20_protein_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tubulin_%2C__%20_gamma_%20_complex_%20_associated_%20_protein_%20_4"|76P_%2C__%20_FLJ14797||15q15.3|2015-12-17||2015-12-17|AJ249677||27229|ENSG00000137822|10562286|NM_014444|||CCDS42030_%2C__%20_CCDS66745|OTTHUMG00000176647|27229|609610|NM_001286414|Q9UGJ1|ENSG00000137822|uc001zrn.5|GCP4_HUMAN||B3KNK6_%7C_Q969X3_%7C_Q9NVF0|Q9UGJ1|G2/M_%20_transition_%20_of_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0000086)_%7C_microtubule_%20_nucleation_%20_(GO:0007020)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_protein_%20_complex_%20_assembly_%20_(GO:0006461)|centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_gamma-tubulin_%20_ring_%20_complex_%20_(GO:0008274)_%7C_membrane_%20_(GO:0016020)_%7C_microtubule_%20_(GO:0005874)_%7C_microtubule_%20_cytoskeleton_%20_(GO:0015630)_%7C_spindle_%20_pole_%20_(GO:0000922)|structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr15 54914591 exm1163533 C T . PASS FUNCOTATION=[UNC13C|hg19|chr15|54914591|54914591|MISSENSE||SNP|C|C|T|g.chr15:54914591C>T|ENST00000260323.11|+|30|6173|c.6173C>T|c.(6172-6174)aCg>aTg|p.T2058M|0.3541147132169576|ACCCCAGGAACGGGAGATCAT|UNC13C_ENST00000539562.2_DE_NOVO_START_IN_FRAME/UNC13C_ENST00000537900.1_MISSENSE_p.T2056M/UNC13C_ENST00000545554.1_MISSENSE_p.T2058M|||||||||||||||||||||||||46|biliary_tract(2)_%7C_central_nervous_system(22)_%7C_pancreas(22)|||||||BC040740|NM_001080534.1|NP_001074003.1|HGNC:23149|unc-13_%20_homolog_%20_C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"unc-13_%20_homolog_%20_C_%20_(C._%20_elegans)"|Munc13-3_%2C__%20_DKFZp547H074||15q21.3|2016-06-24||2016-06-24|AK091491||440279|ENSG00000137766||NM_173166|836|UNC13_%20_homologs|CCDS45264|OTTHUMG00000172542|440279|614568|NM_001080534|Q8NB66|ENSG00000137766|uc059jkr.1|UN13C_HUMAN||Q0P613_%7C_Q8ND48_%7C_Q96NP3|Q8NB66|exocytosis_%20_(GO:0006887)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|cell_%20_junction_%20_(GO:0030054)_%7C_cytoplasm_%20_(GO:0005737)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_presynaptic_%20_active_%20_zone_%20_(GO:0048786)|diacylglycerol_%20_binding_%20_(GO:0019992)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr15 74528985 rs351175 T G . PASS FUNCOTATION=[CCDC33|hg19|chr15|74528985|74528985|DE_NOVO_START_IN_FRAME||SNP|T|T|G|g.chr15:74528985T>G|ENST00000398814.3|+|1|||||0.5561097256857855|CAGGACTGATTCCTGATCACC|CCDC33_ENST00000321288.5_INTRON|||||||||||||||||||||||||196|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(104)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC031684|NM_025055.4|NP_079331.3|HGNC:26552|coiled-coil_%20_domain_%20_containing_%20_33|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32855_%2C__%20_CT61|"cancer/testis_%20_antigen_%20_61"|15q24.1|2014-11-19|||BC025689||80125||12477932|NM_182791|823|C2_%20_domain_%20_containing|CCDS42058_%2C__%20_CCDS42059_%2C__%20_CCDS73753||80125||NM_001287181|Q8N5R6|ENSG00000140481|uc002axo.4|CCD33_HUMAN||A8K3U4_%7C_A8MPQ6_%7C_A8MV61_%7C_A8MVU9_%7C_B3KQ49_%7C_Q8TAX6_%7C_Q9H5Q6|Q8N5R6|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr15 77348407 exm1179460 G A . PASS FUNCOTATION=[TSPAN3|hg19|chr15|77348407|77348407|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr15:77348407G>A|ENST00000558745.1|-|2|||||0.3915211970074813|ACATCTTACCGTGGCAAGTCC|TSPAN3_ENST00000267970.4_SPLICE_SITE_p.T85M/TSPAN3_ENST00000561277.1_DE_NOVO_START_IN_FRAME/TSPAN3_ENST00000346495.2_SPLICE_SITE_p.T85M/TSPAN3_ENST00000424443.3_INTRON/TSPAN3_ENST00000559494.1_INTRON/TSPAN3_ENST00000558394.1_SPLICE_SITE|||||||||||||||||||||||||251|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(171)_%7C_lung(1)_%7C_pancreas(22)|||||||AC090181|||HGNC:17752|tetraspanin_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TM4SF8|"transmembrane_%20_4_%20_superfamily_%20_member_%20_8"|TM4-A_%2C__%20_TSPAN-3||15q24.3|2016-10-05|2005-03-21|2005-03-21|||10099|ENSG00000140391||NM_005724|768|Tetraspanins|CCDS10292_%2C__%20_CCDS10293_%2C__%20_CCDS53963|OTTHUMG00000143728|10099|613134|NM_001168412|O60637|ENSG00000140391|uc002bcj.4|TSN3_HUMAN||A6NEH4_%7C_B3KQQ2_%7C_B4DP19_%7C_Q9BW22_%7C_Q9NVX9|O60637||extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr16 66432463 exm1246534 C T . PASS FUNCOTATION=[CDH5|hg19|chr16|66432463|66432463|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr16:66432463C>T|ENST00000539168.1|+|4|||||0.5187032418952618|CGGATAATCACGGTAGGCATC|CDH5_ENST00000341529.3_SPLICE_SITE_p.H530H|||||||||||||||||||||||||895|biliary_tract(2)_%7C_breast(243)_%7C_central_nervous_system(61)_%7C_large_intestine(11)_%7C_lung(232)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_skin(42)_%7C_soft_tissue(36)_%7C_stomach(121)_%7C_urinary_tract(1)|||||||AK300322|||HGNC:1764|cadherin_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"cadherin_%20_5_%2C__%20_type_%20_2_%2C__%20_VE-cadherin_%20_(vascular_%20_epithelium)"_%2C__%20_"cadherin_%20_5_%2C__%20_type_%20_2_%20_(vascular_%20_endothelium)"|7B4_%2C__%20_CD144|"VE-cadherin"|16q21|2016-10-05||2016-01-15|X79981||1003|ENSG00000179776|2059658|NM_001795|1186_%7C_471|Type_%20_II_%20_classical_%20_cadherins_%7C_CD_%20_molecules|CCDS10804|OTTHUMG00000137495|1003|601120|NM_001795|P33151|ENSG00000179776|uc002eom.5|CADH5_HUMAN|Lenalidomide(DB00480)|Q4VAI5_%7C_Q4VAI6|P33151|adherens_%20_junction_%20_organization_%20_(GO:0034332)_%7C_blood_%20_vessel_%20_maturation_%20_(GO:0001955)_%7C_cell_%20_junction_%20_assembly_%20_(GO:0034329)_%7C_cell-cell_%20_junction_%20_organization_%20_(GO:0045216)_%7C_homophilic_%20_cell_%20_adhesion_%20_(GO:0007156)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_regulation_%20_of_%20_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:2000114)|cell_%20_junction_%20_(GO:0030054)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_tight_%20_junction_%20_(GO:0005923)|beta-catenin_%20_binding_%20_(GO:0008013)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_ion_%20_channel_%20_binding_%20_(GO:0044325)_%7C_receptor_%20_binding_%20_(GO:0005102)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr17 4955266 psy_rs117556792 G A . PASS FUNCOTATION=[SLC52A1|hg19|chr17|4955266|4955266|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr17:4955266G>A|ENST00000512825.2|-|1|||||0.486284289276808|GCCAGGCACCGTGGCTCAGGC||||||||||||||||||||||||||||||||||AC012146|||HGNC:30225|solute_%20_carrier_%20_family_%20_52_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GPR172B|"G_%20_protein-coupled_%20_receptor_%20_172B"_%2C__%20_"solute_%20_carrier_%20_family_%20_52_%20_(riboflavin_%20_transporter)_%2C__%20_member_%20_1"|FLJ10060_%2C__%20_GPCR42_%2C__%20_PAR2_%2C__%20_hRFT1_%2C__%20_RFVT1|"riboflavin_%20_transporter_%20_1"|17p13.2|2016-10-05|2012-02-29|2016-02-17|AY070775||55065|ENSG00000132517|12740431_%2C__%20_18632736|NM_017986|752|Solute_%20_carriers|CCDS11066|OTTHUMG00000099448|55065|607883|NM_001104577|Q9NWF4|ENSG00000132517|uc002gap.5|S52A1_HUMAN||B5MEV1_%7C_B5MEV2_%7C_Q6P9E0_%7C_Q86UT0|Q9NWF4|riboflavin_%20_transport_%20_(GO:0032218)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|riboflavin_%20_transporter_%20_activity_%20_(GO:0032217)_%7C_virus_%20_receptor_%20_activity_%20_(GO:0001618)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr17 8021612 exm1290936 C A . PASS FUNCOTATION=[ALOXE3|hg19|chr17|8021612|8021612|DE_NOVO_START_OUT_FRAME||SNP|C|C|A|g.chr17:8021612C>A|ENST00000448843.2|-|2|||||0.6109725685785536|TATCAGGAGCCTGGGTTCCAC|ALOXE3_ENST00000380149.1_MISSENSE_p.Q55H/ALOXE3_ENST00000318227.3_MISSENSE_p.Q31H|||||||||||||||||||||||||184|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471108|NM_021628.2|NP_067641.2|HGNC:13743|arachidonate_%20_lipoxygenase_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||eLOX3_%2C__%20_E-LOX||17p13.1|2015-09-11|||AJ269499|1.13.11.-|59344|ENSG00000179148|||407|Arachidonate_%20_lipoxygenases|CCDS11130_%2C__%20_CCDS54084|OTTHUMG00000108179|59344|607206|NM_001165960|Q9BYJ1|ENSG00000179148|uc010cnr.4|LOXE3_HUMAN||B2R981_%7C_B7Z3W0_%7C_Q3ZB74_%7C_Q9H4F2_%7C_Q9HC22|Q9BYJ1|arachidonic_%20_acid_%20_metabolic_%20_process_%20_(GO:0019369)_%7C_ceramide_%20_biosynthetic_%20_process_%20_(GO:0046513)_%7C_establishment_%20_of_%20_skin_%20_barrier_%20_(GO:0061436)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_hepoxilin_%20_biosynthetic_%20_process_%20_(GO:0051122)_%7C_linoleic_%20_acid_%20_metabolic_%20_process_%20_(GO:0043651)_%7C_lipoxygenase_%20_pathway_%20_(GO:0019372)_%7C_peroxisome_%20_proliferator_%20_activated_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0035357)_%7C_sensory_%20_perception_%20_of_%20_pain_%20_(GO:0019233)_%7C_sphingolipid_%20_metabolic_%20_process_%20_(GO:0006665)|cytoplasm_%20_(GO:0005737)|hepoxilin_%20_A3_%20_synthase_%20_activity_%20_(GO:0051120)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)_%7C_lyase_%20_activity_%20_(GO:0016829)_%7C_oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_single_%20_donors_%20_with_%20_incorporation_%20_of_%20_molecular_%20_oxygen_%2C__%20_incorporation_%20_of_%20_two_%20_atoms_%20_of_%20_oxygen_%20_(GO:0016702)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr17 33772713 exm1882307 C A . PASS FUNCOTATION=[SLFN13|hg19|chr17|33772713|33772713|DE_NOVO_START_IN_FRAME||SNP|C|C|A|g.chr17:33772713C>A|ENST00000533791.1|-|1|||||0.4089775561097257|GAACTTGCACCTTAAAGTATT|SLFN13_ENST00000285013.6_SPLICE_SITE/SLFN13_ENST00000526861.1_SPLICE_SITE/SLFN13_ENST00000542635.1_SPLICE_SITE/SLFN13_ENST00000534689.1_SPLICE_SITE/SLFN13_ENST00000360502.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR749630|||HGNC:26481|schlafen_%20_family_%20_member_%20_13|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ31952||17q12|2015-09-11|||AL832726||146857||9846487|NM_144682|1110|Schlafen_%20_family|CCDS32620||146857|614957|NM_144682|Q68D06|ENSG00000154760|uc002hjl.2|SLN13_HUMAN||E1P645_%7C_Q658M1_%7C_Q6ZS51_%7C_Q96A81|Q68D06||intracellular_%20_(GO:0005622)|ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr17 43212963 exm2226509 G T . PASS FUNCOTATION=[ACBD4|hg19|chr17|43212963|43212963|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr17:43212963G>T|ENST00000431281.1|+|2|||||0.628428927680798|GGTTGAGGTAGGTAAGCCGAA|ACBD4_ENST00000591859.1_INTRON/ACBD4_ENST00000321854.8_FIVE_PRIME_FLANK/PLCD3_ENST00000322765.5_FIVE_PRIME_FLANK/ACBD4_ENST00000376955.4_FIVE_PRIME_FLANK/ACBD4_ENST00000398322.3_FIVE_PRIME_FLANK/ACBD4_ENST00000586346.1_FIVE_PRIME_FLANK/ACBD4_ENST00000592162.1_FIVE_PRIME_FLANK/PLCD3_ENST00000540511.1_FIVE_PRIME_FLANK/ACBD4_ENST00000591136.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471178|NM_001135704.1|NP_001129176.1|HGNC:23337|acyl-CoA_%20_binding_%20_domain_%20_containing_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"acyl-Coenzyme_%20_A_%20_binding_%20_domain_%20_containing_%20_4"|FLJ13322||17q21.31|2015-08-24||2010-04-30|BC029164||79777|ENSG00000181513||NM_024722|||CCDS42348_%2C__%20_CCDS45710_%2C__%20_CCDS45711|OTTHUMG00000180111|79777||NM_001135705|Q8NC06|ENSG00000181513|uc002iic.4|ACBD4_HUMAN||D3DX64_%7C_Q8IUT1_%7C_Q9H8Q4|Q8NC06|||fatty-acyl-CoA_%20_binding_%20_(GO:0000062)_%7C_lipid_%20_binding_%20_(GO:0008289)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr17 43212963 rs2291447 G T . PASS FUNCOTATION=[ACBD4|hg19|chr17|43212963|43212963|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr17:43212963G>T|ENST00000431281.1|+|2|||||0.628428927680798|GGTTGAGGTAGGTAAGCCGAA|ACBD4_ENST00000591859.1_INTRON/ACBD4_ENST00000321854.8_FIVE_PRIME_FLANK/PLCD3_ENST00000322765.5_FIVE_PRIME_FLANK/ACBD4_ENST00000376955.4_FIVE_PRIME_FLANK/ACBD4_ENST00000398322.3_FIVE_PRIME_FLANK/ACBD4_ENST00000586346.1_FIVE_PRIME_FLANK/ACBD4_ENST00000592162.1_FIVE_PRIME_FLANK/PLCD3_ENST00000540511.1_FIVE_PRIME_FLANK/ACBD4_ENST00000591136.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471178|NM_001135704.1|NP_001129176.1|HGNC:23337|acyl-CoA_%20_binding_%20_domain_%20_containing_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"acyl-Coenzyme_%20_A_%20_binding_%20_domain_%20_containing_%20_4"|FLJ13322||17q21.31|2015-08-24||2010-04-30|BC029164||79777|ENSG00000181513||NM_024722|||CCDS42348_%2C__%20_CCDS45710_%2C__%20_CCDS45711|OTTHUMG00000180111|79777||NM_001135705|Q8NC06|ENSG00000181513|uc002iic.4|ACBD4_HUMAN||D3DX64_%7C_Q8IUT1_%7C_Q9H8Q4|Q8NC06|||fatty-acyl-CoA_%20_binding_%20_(GO:0000062)_%7C_lipid_%20_binding_%20_(GO:0008289)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr17 45730168 exm1332330 C G . PASS FUNCOTATION=[KPNB1|hg19|chr17|45730168|45730168|DE_NOVO_START_OUT_FRAME||SNP|C|C|G|g.chr17:45730168C>G|ENST00000540627.1|+|2|||||0.4164588528678304|ATCTAAAGATCCAGATATCAA|KPNB1_ENST00000290158.4_MISSENSE_p.P70A/KPNB1_ENST00000535458.2_DE_NOVO_START_OUT_FRAME/KPNB1_ENST00000537679.1_FIVE_PRIME_FLANK/KPNB1_ENST00000577918.1_INTRON/RP11-580I16.2_ENST00000580045.1_FIVE_PRIME_FLANK/RP11-580I16.2_ENST00000582389.1_FIVE_PRIME_FLANK/RP11-580I16.2_ENST00000584391.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||343|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(171)_%7C_lung(1)_%7C_pancreas(22)|||||||AK316421|NM_001276453.1|NP_001263382.1|HGNC:6400|karyopherin_%20_subunit_%20_beta_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"karyopherin_%20_(importin)_%20_beta_%20_1"|NTF97_%2C__%20_IPOB_%2C__%20_MGC2155_%2C__%20_MGC2156_%2C__%20_MGC2157_%2C__%20_IMB1_%2C__%20_Impnb_%2C__%20_IPO1|"importin_%20_1"|17q21.32|2016-02-01||2016-02-01|L39793||3837|ENSG00000108424|7615630_%2C__%20_7627554|NM_002265|596_%7C_409|Importins_%7C_Armadillo_%20_repeat_%20_containing|CCDS11513_%2C__%20_CCDS62228|OTTHUMG00000036957|3837|602738|NM_001276453|Q14974|ENSG00000108424|uc002ilt.3|IMB1_HUMAN||B7ZAV6_%7C_D3DTT3_%7C_Q14637_%7C_Q53XN2_%7C_Q96J27|Q14974|apoptotic_%20_DNA_%20_fragmentation_%20_(GO:0006309)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_component_%20_disassembly_%20_involved_%20_in_%20_execution_%20_phase_%20_of_%20_apoptosis_%20_(GO:0006921)_%7C_cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_intracellular_%20_transport_%20_of_%20_virus_%20_(GO:0075733)_%7C_NLS-bearing_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006607)_%7C_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006606)_%7C_protein_%20_import_%20_into_%20_nucleus_%2C__%20_translocation_%20_(GO:0000060)_%7C_ribosomal_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006610)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_viral_%20_life_%20_cycle_%20_(GO:0019058)_%7C_viral_%20_process_%20_(GO:0016032)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endoplasmic_%20_reticulum_%20_tubular_%20_network_%20_(GO:0071782)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_membrane_%20_(GO:0031965)_%7C_nuclear_%20_pore_%20_(GO:0005643)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|enzyme_%20_binding_%20_(GO:0019899)_%7C_nuclear_%20_localization_%20_sequence_%20_binding_%20_(GO:0008139)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_transporter_%20_activity_%20_(GO:0008565)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr17 73242591 exm1353848 G A . PASS FUNCOTATION=[GGA3|hg19|chr17|73242591|73242591|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr17:73242591G>A|ENST00000582486.1|-|3|||||0.5960099750623441|AGGACCTACCGTCAGGGCCTG|GGA3_ENST00000578348.1_DE_NOVO_START_IN_FRAME/GGA3_ENST00000245541.6_SPLICE_SITE_p.T67M/GGA3_ENST00000582717.1_DE_NOVO_START_IN_FRAME/GGA3_ENST00000351904.7_SPLICE_SITE_p.T67M/GGA3_ENST00000537686.1_SPLICE_SITE_p.T67M/GGA3_ENST00000538886.1_INTRON/GGA3_ENST00000579743.1_SPLICE_SITE|||||||||||||||||||||||||155|biliary_tract(2)_%7C_breast(49)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||AC022211|NM_001172703.1|NP_001166174.1|HGNC:17079|golgi_%20_associated_%2C__%20_gamma_%20_adaptin_%20_ear_%20_containing_%2C__%20_ARF_%20_binding_%20_protein_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"golgi-associated_%2C__%20_gamma_%20_adaptin_%20_ear_%20_containing_%2C__%20_ARF_%20_binding_%20_protein_%20_3"|KIAA0154||17q25.1|2016-10-05||2016-03-30|AF190864||23163|ENSG00000125447|10747089_%2C__%20_10749927|NM_138619|1031|Golgi_%20_associated_%2C__%20_gamma_%20_adaptin_%20_ear_%20_containing_%2C__%20_ARF_%20_binding_%20_proteins|CCDS11716_%2C__%20_CCDS11717_%2C__%20_CCDS54164_%2C__%20_CCDS58597|OTTHUMG00000179483|23163|606006|NM_001172703|Q9NZ52|ENSG00000125447|uc032frk.2|GGA3_HUMAN||B7Z7E2_%7C_B7Z7M9_%7C_J3KRN0_%7C_Q15017_%7C_Q6IS16_%7C_Q9UJY3|Q9NZ52|intracellular_%20_protein_%20_transport_%20_(GO:0006886)_%7C_vesicle-mediated_%20_transport_%20_(GO:0016192)|clathrin_%20_adaptor_%20_complex_%20_(GO:0030131)_%7C_endosome_%20_(GO:0005768)_%7C_trans-Golgi_%20_network_%20_(GO:0005802)|ADP-ribosylation_%20_factor_%20_binding_%20_(GO:0030306)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr18 72914161 exm1393249 T C . PASS FUNCOTATION=[ZADH2|hg19|chr18|72914161|72914161|DE_NOVO_START_OUT_FRAME||SNP|T|T|C|g.chr18:72914161T>C|ENST00000537114.2|-|2|||||0.4837905236907731|GCCAACTGTGTATCTGGCACT|ZADH2_ENST00000322342.3_MISSENSE_p.Y115C|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AK302801|||HGNC:28697|zinc_%20_binding_%20_alcohol_%20_dehydrogenase_%20_domain_%20_containing_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45594||18q22.3|2015-07-16||2008-05-29|BC033780||284273|ENSG00000180011|12477932|NM_175907|||CCDS12008_%2C__%20_CCDS77198|OTTHUMG00000132858|284273||NM_001306093|Q8N4Q0|ENSG00000180011|uc002llx.4|ZADH2_HUMAN||A8KA15_%7C_B4DZ91|Q8N4Q0||mitochondrion_%20_(GO:0005739)_%7C_peroxisome_%20_(GO:0005777)|oxidoreductase_%20_activity_%20_(GO:0016491)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr18 72914280 rs7230037 G A . PASS FUNCOTATION=[ZADH2|hg19|chr18|72914280|72914280|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr18:72914280G>A|ENST00000537114.2|-|2|||||0.4389027431421446|TGTCAGATGCGTTAACACCAA|ZADH2_ENST00000322342.3_SILENT_p.N75N|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AK302801|||HGNC:28697|zinc_%20_binding_%20_alcohol_%20_dehydrogenase_%20_domain_%20_containing_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45594||18q22.3|2015-07-16||2008-05-29|BC033780||284273|ENSG00000180011|12477932|NM_175907|||CCDS12008_%2C__%20_CCDS77198|OTTHUMG00000132858|284273||NM_001306093|Q8N4Q0|ENSG00000180011|uc002llx.4|ZADH2_HUMAN||A8KA15_%7C_B4DZ91|Q8N4Q0||mitochondrion_%20_(GO:0005739)_%7C_peroxisome_%20_(GO:0005777)|oxidoreductase_%20_activity_%20_(GO:0016491)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr19 6670529 rs3760746 G A . PASS FUNCOTATION=[TNFSF14|hg19|chr19|6670529|6670529|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr19:6670529G>A|ENST00000599359.1|-|1|||||0.5336658354114713|AAGAAACCTCGTAAACAAGAA|TNFSF14_ENST00000326176.9_DE_NOVO_START_OUT_FRAME/TNFSF14_ENST00000245912.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||185|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(2)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR541871|||HGNC:11930|TNF_%20_superfamily_%20_member_%20_14|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_(ligand)_%20_superfamily_%2C__%20_member_%20_14"|LIGHT_%2C__%20_LTg_%2C__%20_HVEM-L_%2C__%20_CD258||19p13.3|2017-03-02||2017-03-02|AF036581||8740|ENSG00000125735|9462508||781_%7C_471|Tumor_%20_necrosis_%20_factor_%20_superfamily_%7C_CD_%20_molecules|CCDS12171_%2C__%20_CCDS45939|OTTHUMG00000181835|8740|604520|NM_003807|O43557|ENSG00000125735|uc002mfk.3|TNF14_HUMAN||A8K7M2_%7C_C9J5H4_%7C_O75476_%7C_Q6FHA1_%7C_Q8WVF8_%7C_Q96LD2|O43557|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_mechanical_%20_stimulus_%20_(GO:0071260)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_negative_%20_regulation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_(GO:0043154)_%7C_positive_%20_regulation_%20_of_%20_T_%20_cell_%20_chemotaxis_%20_(GO:0010820)_%7C_release_%20_of_%20_cytoplasmic_%20_sequestered_%20_NF-kappaB_%20_(GO:0008588)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_T_%20_cell_%20_activation_%20_(GO:0042110)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_homeostasis_%20_(GO:0043029)_%7C_T_%20_cell_%20_proliferation_%20_(GO:0042098)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|cysteine-type_%20_endopeptidase_%20_inhibitor_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_(GO:0043027)_%7C_receptor_%20_binding_%20_(GO:0005102)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr19 18994994 exm2253710 G A . PASS FUNCOTATION=[GDF1|hg19|chr19|18994994|18994994|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr19:18994994G>A|ENST00000247005.6|-|3|||||0.6259351620947631|ATAGCGTAGCGTAGATGGAGT|CERS1_ENST00000429504.2_SILENT_p.Y164Y/CERS1_ENST00000542296.2_SILENT_p.Y66Y/CERS1_ENST00000427170.2_SILENT_p.Y164Y|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||M62302|||HGNC:4214|growth_%20_differentiation_%20_factor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||19p13.11|2016-10-24|||M62302||2657|ENSG00000130283|2034669|NM_001492|542|Endogenous_%20_ligands|CCDS42526|OTTHUMG00000183278|2657|602880|NM_001492|P27539|ENSG00000130283|uc060vuk.1|GDF1_HUMAN||O43344|P27539|growth_%20_(GO:0040007)|extracellular_%20_space_%20_(GO:0005615)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr19 40542375 variant.55743 G A . PASS FUNCOTATION=[ZNF780B|hg19|chr19|40542375|40542375|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr19:40542375G>A|ENST00000221355.6|-|6|||||0.32917705735660846|TGTCCCTGTCGTCCCTCAAAT|ZNF780B_ENST00000434248.1_NONSENSE_p.R131*|||||||||||||||||||||||||46|biliary_tract(2)_%7C_central_nervous_system(22)_%7C_pancreas(22)|||||||CH471126|||HGNC:33109|zinc_%20_finger_%20_protein_%20_780B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZNF779|"zinc_%20_finger_%20_protein_%20_779"|||19q13.2|2017-03-10||2006-08-15|AK127063||163131|ENSG00000128000||NM_001005851|28|Zinc_%20_fingers_%20_C2H2-type|CCDS46077|OTTHUMG00000155118|163131||NM_001005851|Q9Y6R6|ENSG00000128000|uc060yoj.1|Z780B_HUMAN||B9EH00|Q9Y6R6|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr19 41903671 rs892044 A G . PASS FUNCOTATION=[BCKDHA|hg19|chr19|41903671|41903671|DE_NOVO_START_OUT_FRAME||SNP|A|A|G|g.chr19:41903671A>G|ENST00000269980.2|+|1|||||0.5511221945137157|TCAGGCACATAAAGAGGCAGC|CTC-435M10.3_ENST00000540732.1_INTRON/BCKDHA_ENST00000595085.1_INTRON/EXOSC5_ENST00000221233.4_FIVE_PRIME_FLANK/BCKDHA_ENST00000457836.2_FIVE_PRIME_FLANK/EXOSC5_ENST00000596905.1_FIVE_PRIME_FLANK/CTC-435M10.3_ENST00000604424.1_INTRON/CTC-435M10.10_ENST00000598988.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z14093|NM_001164783.1|NP_001158255.1|HGNC:986|branched_%20_chain_%20_keto_%20_acid_%20_dehydrogenase_%20_E1_%2C__%20_alpha_%20_polypeptide|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|OVD1A|"branched_%20_chain_%20_keto_%20_acid_%20_dehydrogenase_%20_E1_%2C__%20_alpha_%20_polypeptide_%20_(maple_%20_syrup_%20_urine_%20_disease)"_%2C__%20_"2-oxoisovalerate_%20_dehydrogenase_%20_(lipoamide)"|MSU|"maple_%20_syrup_%20_urine_%20_disease"|19q13.2|2016-10-05||2005-11-29|J04474||593|ENSG00000248098||NM_000709|||CCDS12581|OTTHUMG00000168128|593|608348|NM_000709|P12694|ENSG00000248098|uc002oqq.4|ODBA_HUMAN||B4DP47_%7C_E7EW46_%7C_Q16034_%7C_Q16472|P12694|branched-chain_%20_amino_%20_acid_%20_catabolic_%20_process_%20_(GO:0009083)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_response_%20_to_%20_cAMP_%20_(GO:0051591)_%7C_response_%20_to_%20_glucocorticoid_%20_(GO:0051384)_%7C_response_%20_to_%20_nutrient_%20_(GO:0007584)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_alpha-ketoglutarate_%20_dehydrogenase_%20_complex_%20_(GO:0005947)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_mitochondrion_%20_(GO:0005739)|3-methyl-2-oxobutanoate_%20_dehydrogenase_%20_(2-methylpropanoyl-transferring)_%20_activity_%20_(GO:0003863)_%7C_alpha-ketoacid_%20_dehydrogenase_%20_activity_%20_(GO:0003826)_%7C_carboxy-lyase_%20_activity_%20_(GO:0016831)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 3718692 rs13409104 C T . PASS FUNCOTATION=[ALLC|hg19|chr2|3718692|3718692|DE_NOVO_START_IN_FRAME||SNP|C|C|T|g.chr2:3718692C>T|ENST00000252505.3|+|2|||||0.5211970074812967|CCAGGAAGCACGGCTGATGCT||||||||||||||||||||||||||143|central_nervous_system(23)_%7C_upper_aerodigestive_tract(120)|||||||CH471053|NM_018436.3|NP_060906.3|HGNC:17377|allantoicase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ALC||2p25.3|2014-11-18|||AF215924||55821|ENSG00000151360|11054555||||CCDS46223|OTTHUMG00000151485|55821|612396|NM_018436|Q8N6M5|ENSG00000151360|uc010ewt.4|ALLC_HUMAN||Q53T95_%7C_Q5RL81_%7C_Q96RE6_%7C_Q9NZA7|Q8N6M5|allantoin_%20_catabolic_%20_process_%20_(GO:0000256)||allantoicase_%20_activity_%20_(GO:0004037)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 25194771 exm2018058 C T . PASS FUNCOTATION=[DNAJC27|hg19|chr2|25194771|25194771|START_CODON_SNP||SNP|C|C|T|g.chr2:25194771C>T|ENST00000264711.2|-|1|193|c.3G>A|c.(1-3)atG>atA|p.M1I|0.713216957605985|TGTTGGCCTCCATGGCCCTGG|DNAJC27_ENST00000534855.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000421904.1_RNA/DNAJC27-AS1_ENST00000451291.1_RNA/SNORD14_ENST00000365609.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000421842.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000422449.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000428614.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000434897.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000445389.1_FIVE_PRIME_FLANK/DNAJC27_ENST00000468467.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471053|NM_016544.2|NP_057628.1|HGNC:30290|DnaJ_%20_heat_%20_shock_%20_protein_%20_family_%20_(Hsp40)_%20_member_%20_C27|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|RBJ|"rab_%20_and_%20_DnaJ_%20_domain_%20_containing"_%2C__%20_"DnaJ_%20_(Hsp40)_%20_homolog_%2C__%20_subfamily_%20_C_%2C__%20_member_%20_27"|RabJS||2p23.3|2015-11-19|2008-08-20|2015-11-19|||51277|ENSG00000115137|14980719|NM_016544|584|DNAJ_%20_(HSP40)_%20_heat_%20_shock_%20_proteins|CCDS1716_%2C__%20_CCDS74493|OTTHUMG00000125524|51277|613527|NM_001198559|Q9NZQ0|ENSG00000115137|uc002rft.2|DJC27_HUMAN||Q5JV88_%7C_Q86Y24|Q9NZQ0|small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|mitochondrion_%20_(GO:0005739)|GTP_%20_binding_%20_(GO:0005525)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 26679385 exm178577 A C . PASS FUNCOTATION=[DRC1|hg19|chr2|26679385|26679385|NONSTOP||SNP|A|A|C|g.chr2:26679385A>C|ENST00000288710.2|+|17|2297|c.2223A>C|c.(2221-2223)tgA>tgC|p.*741C|0.5411471321695761|CCACAAAATGAGCTGGACCGC||||||||||||||||||||||||||||||||||AL833892|NM_145038.2|NP_659475.2|HGNC:24245|dynein_%20_regulatory_%20_complex_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C2orf39_%2C__%20_CCDC164|"chromosome_%20_2_%20_open_%20_reading_%20_frame_%20_39"_%2C__%20_"coiled-coil_%20_domain_%20_containing_%20_164"_%2C__%20_"dynein_%20_regulatory_%20_complex_%20_subunit_%20_1_%20_homolog_%20_(Chlamydomonas)"|MGC16372_%2C__%20_FLJ32660_%2C__%20_CILD21||2p23.3|2014-11-19|2013-03-14|2014-07-18|AL833892||92749|ENSG00000157856|23354437|NM_145038|981|Dynein_%20_regulatory_%20_complex|CCDS1723|OTTHUMG00000125531|92749|615288|NM_145038|Q96MC2|ENSG00000157856|uc002rhg.2|DRC1_HUMAN||A8K1N8_%7C_Q53R91_%7C_Q53TA3_%7C_Q8NDI5|Q96MC2|axonemal_%20_dynein_%20_complex_%20_assembly_%20_(GO:0070286)_%7C_bacterial-type_%20_flagellum-dependent_%20_cell_%20_motility_%20_(GO:0071973)_%7C_cilium-dependent_%20_cell_%20_motility_%20_(GO:0060285)|axoneme_%20_(GO:0005930)_%7C_cytoskeleton_%20_(GO:0005856)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 27870801 indel.59967 G GGC . PASS FUNCOTATION=[GPN1|hg19|chr2|27870801|27870802|FRAME_SHIFT_INS||INS|-|-|GC|g.chr2:27870801_27870802insGC|ENST00000610189.1|+|13|1037|c.1030_1031insGC|c.(1030-1032)gacfs|p.D344fs|0.4575|GATGACATTGACCACAGAGG|GPN1_ENST00000264718.3_FRAME_SHIFT_INS_p.D358fs/GPN1_ENST00000424214.1_FRAME_SHIFT_INS_p.D265fs/GPN1_ENST00000515877.1_FRAME_SHIFT_INS_p.D265fs/GPN1_ENST00000458167.2_FRAME_SHIFT_INS_p.D249fs/GPN1_ENST00000407583.3_FRAME_SHIFT_INS_p.D332fs/GPN1_ENST00000503738.1_FRAME_SHIFT_INS_p.D249fs|||||||||||||||||||||||||116|central_nervous_system(22)_%7C_kidney(92)_%7C_lung(2)|||||||CH471053|NM_007266.3|NP_009197.2|HGNC:17030|GPN-loop_%20_GTPase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|XAB1|"XPA_%20_binding_%20_protein_%20_1"_%2C__%20_"XPA_%20_binding_%20_protein_%20_1_%2C__%20_GTPase"|NTPBP_%2C__%20_MBDIN_%2C__%20_ATPBD1A_%2C__%20_RPAP4|"RNA_%20_polymerase_%20_II_%20_associated_%20_protein_%20_4"|2p23.3|2014-11-19|2008-04-30|2008-04-30|AB044661||11321|ENSG00000198522|11058119_%2C__%20_11124703|NM_007266|578|GPN-loop_%20_GTPases|CCDS1760_%2C__%20_CCDS46248_%2C__%20_CCDS46249_%2C__%20_CCDS46250|OTTHUMG00000097784|11321|611479|NM_001145047|Q9HCN4|ENSG00000198522|uc061hra.1|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 29093143 exm183039 T C . PASS FUNCOTATION=[TRMT61B|hg19|chr2|29093143|29093143|START_CODON_SNP||SNP|T|T|C|g.chr2:29093143T>C|ENST00000306108.5|-|1|25|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6533665835411472|GCCATTAGCATAGTGTTTCGC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471053|NM_017910.3|NP_060380.3|HGNC:26070|tRNA_%20_methyltransferase_%20_61B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tRNA_%20_methyltransferase_%20_61_%20_homolog_%20_B_%20_(S._%20_cerevisiae)"|FLJ20628||2p23.2|2014-11-19||2014-11-17|BC010365||55006|ENSG00000171103|11230166_%2C__%20_23097428|NM_017910|1400|Seven-beta-strand_%20_methyltransferase_%20_motif_%20_containing|CCDS1768|OTTHUMG00000128433|55006||NM_017910|Q9BVS5|ENSG00000171103|uc002rmm.5|TR61B_HUMAN||Q9H0Q9_%7C_Q9NWS7|Q9BVS5|mitochondrial_%20_tRNA_%20_methylation_%20_(GO:0070901)_%7C_protein_%20_homooligomerization_%20_(GO:0051260)|mitochondrion_%20_(GO:0005739)_%7C_tRNA_%20_(m1A)_%20_methyltransferase_%20_complex_%20_(GO:0031515)|tRNA_%20_(adenine-N1-)-methyltransferase_%20_activity_%20_(GO:0016429)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 54483287 exm194087 A G . PASS FUNCOTATION=[TSPYL6|hg19|chr2|54483287|54483287|START_CODON_SNP||SNP|A|A|G|g.chr2:54483287A>G|ENST00000317802.7|-|1|123|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6034912718204489|CGGGAGGCTCATGTTGGTAGC|ACYP2_ENST00000394666.3_INTRON/ACYP2_ENST00000607452.1_INTRON/ACYP2_ENST00000303536.4_INTRON/ACYP2_ENST00000606865.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_soft_tissue(1)|||||||BC068576|NM_001003937.2|NP_001003937.2|HGNC:14521|TSPY_%20_like_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||2p16.2|2016-10-05||2016-07-01|AK097417||388951|ENSG00000178021||XM_371494|||CCDS42682|OTTHUMG00000151823|388951||NM_001003937|Q8N831|ENSG00000178021|uc002rxr.3|TSYL6_HUMAN||Q6NUJ3|Q8N831|nucleosome_%20_assembly_%20_(GO:0006334)|nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 54483288 exm194088 T C . PASS FUNCOTATION=[TSPYL6|hg19|chr2|54483288|54483288|START_CODON_SNP||SNP|T|T|C|g.chr2:54483288T>C|ENST00000317802.7|-|1|122|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.600997506234414|GGGAGGCTCATGTTGGTAGCG|ACYP2_ENST00000394666.3_INTRON/ACYP2_ENST00000607452.1_INTRON/ACYP2_ENST00000303536.4_INTRON/ACYP2_ENST00000606865.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_soft_tissue(1)|||||||BC068576|NM_001003937.2|NP_001003937.2|HGNC:14521|TSPY_%20_like_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||2p16.2|2016-10-05||2016-07-01|AK097417||388951|ENSG00000178021||XM_371494|||CCDS42682|OTTHUMG00000151823|388951||NM_001003937|Q8N831|ENSG00000178021|uc002rxr.3|TSYL6_HUMAN||Q6NUJ3|Q8N831|nucleosome_%20_assembly_%20_(GO:0006334)|nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 54558114 exm194103 T C . PASS FUNCOTATION=[C2orf73|hg19|chr2|54558114|54558114|START_CODON_SNP||SNP|T|T|C|g.chr2:54558114T>C|ENST00000398634.2|+|1|44|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.5660847880299252|TAGAGGCCCATGGAGGAAAAG|C2orf73_ENST00000405749.1_START_CODON_SNP_p.M1T/C2orf73_ENST00000491538.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CH471053|NM_001100396.1|NP_001093866.1|HGNC:26861|chromosome_%20_2_%20_open_%20_reading_%20_frame_%20_73|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ40298||2p16.2|2017-08-04|||BC031669_%2C__%20_AK097617||129852|ENSG00000177994|14702039|NM_001100396|||CCDS46285|OTTHUMG00000151826|129852||NM_001100396|Q8N5S3|ENSG00000177994|uc002rxt.1|CB073_HUMAN||A0AV79_%7C_A0AV81_%7C_Q8N7V4|Q8N5S3|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 71163086 exm200378 T C . PASS FUNCOTATION=[ATP6V1B1|hg19|chr2|71163086|71163086|START_CODON_SNP||SNP|T|T|C|g.chr2:71163086T>C|ENST00000234396.4|+|1|75|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6508728179551122|GACTGCTCCATGGCCATGGAG|ATP6V1B1_ENST00000412314.1_START_CODON_SNP_p.M1T|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M25809|NM_001692.3|NP_001683.2|HGNC:853|ATPase_%20_H+_%20_transporting_%20_V1_%20_subunit_%20_B1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|VPP3_%2C__%20_ATP6B1|"vacuolar_%20_proton_%20_pump_%20_3"_%2C__%20_"ATPase_%2C__%20_H+_%20_transporting_%2C__%20_lysosomal_%20_56/58kDa_%2C__%20_V1_%20_subunit_%20_B1"|VATB_%2C__%20_RTA1B_%2C__%20_Vma2|"Renal_%20_tubular_%20_acidosis_%20_with_%20_deafness"|2p13.3|2016-10-05|2002-05-10|2016-02-11|AF107466|3.6.3.14|525|ENSG00000116039|9916796_%2C__%20_2527371|NM_001692|415|V-type_%20_ATPases|CCDS1912|OTTHUMG00000129711|525|192132|NM_001692|P15313|ENSG00000116039|uc002shj.4|VATB1_HUMAN||Q53FY0_%7C_Q6P4H6|P15313|ATP_%20_hydrolysis_%20_coupled_%20_proton_%20_transport_%20_(GO:0015991)_%7C_ATP_%20_metabolic_%20_process_%20_(GO:0046034)_%7C_calcium_%20_ion_%20_homeostasis_%20_(GO:0055074)_%7C_cellular_%20_iron_%20_ion_%20_homeostasis_%20_(GO:0006879)_%7C_excretion_%20_(GO:0007588)_%7C_inner_%20_ear_%20_morphogenesis_%20_(GO:0042472)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_interaction_%20_with_%20_host_%20_(GO:0051701)_%7C_ossification_%20_(GO:0001503)_%7C_pH_%20_reduction_%20_(GO:0045851)_%7C_phagosome_%20_maturation_%20_(GO:0090382)_%7C_proton_%20_transport_%20_(GO:0015992)_%7C_regulation_%20_of_%20_pH_%20_(GO:0006885)_%7C_sensory_%20_perception_%20_of_%20_sound_%20_(GO:0007605)_%7C_transferrin_%20_transport_%20_(GO:0033572)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_basolateral_%20_plasma_%20_membrane_%20_(GO:0016323)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_lateral_%20_plasma_%20_membrane_%20_(GO:0016328)_%7C_microvillus_%20_(GO:0005902)_%7C_proton-transporting_%20_V-type_%20_ATPase_%2C__%20_V1_%20_domain_%20_(GO:0033180)_%7C_vacuolar_%20_proton-transporting_%20_V-type_%20_ATPase_%20_complex_%20_(GO:0016471)|ATP_%20_binding_%20_(GO:0005524)_%7C_hydrogen_%20_ion_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015078)_%7C_hydrolase_%20_activity_%2C__%20_acting_%20_on_%20_acid_%20_anhydrides_%2C__%20_catalyzing_%20_transmembrane_%20_movement_%20_of_%20_substances_%20_(GO:0016820)||||true|false|0.6312_%2C_0.3688|false|false|1||false|true|true|ATP6V1B1:525|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|false|true|11681642|71163086|false|false|0|true|0|false||false|false|false|SNV|true|0x050128000a05170537000100|1|false|120|rs11681642|] -chr2 74709963 exm204648 A G . PASS FUNCOTATION=[CCDC142|hg19|chr2|74709963|74709963|START_CODON_SNP||SNP|A|A|G|g.chr2:74709963A>G|ENST00000290418.4|-|1|161|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6633416458852868|CGCCTGGGCCATGGGGCGGCG|CCDC142_ENST00000393965.3_START_CODON_SNP_p.M1T/TTC31_ENST00000233623.5_FIVE_PRIME_FLANK/TTC31_ENST00000410003.1_FIVE_PRIME_FLANK/TTC31_ENST00000442235.2_FIVE_PRIME_FLANK/CCDC142_ENST00000471713.1_INTRON/TTC31_ENST00000463189.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC143398|||HGNC:25889|coiled-coil_%20_domain_%20_containing_%20_142|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ14397||2p13.1|2014-11-19|||AK075543||84865|ENSG00000135637||NM_032779|||CCDS1945|OTTHUMG00000129962|84865||NM_032779|Q17RM4|ENSG00000135637|uc002slq.4|CC142_HUMAN||B7ZKV5_%7C_Q8NBJ3_%7C_Q8NBV2_%7C_Q96KA7|Q17RM4|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 84777170 indel.61662 C CT . PASS FUNCOTATION=[DNAH6|hg19|chr2|84777170|84777171|FRAME_SHIFT_INS||INS|-|-|T|g.chr2:84777170_84777171insT|ENST00000237449.6|+|8|1482|c.1474_1475insT|c.(1474-1476)cctfs|p.P492fs|0.36|CCTGAAGTCCCTGATAAAAA|DNAH6_ENST00000389394.3_FRAME_SHIFT_INS_p.P492fs/DNAH6_ENST00000398278.2_FRAME_SHIFT_INS_p.P492fs|||||||||||||||||||||||||81|biliary_tract(2)_%7C_central_nervous_system(45)_%7C_oesophagus(12)_%7C_pancreas(22)|||||||U61736|||HGNC:2951|dynein_%20_axonemal_%20_heavy_%20_chain_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DNHL1|"dynein_%2C__%20_axonemal_%2C__%20_heavy_%20_polypeptide_%20_6"_%2C__%20_"dynein_%20_heavy_%20_chain-like_%20_1"|Dnahc6_%2C__%20_HL-2_%2C__%20_FLJ37357||2p11.2|2016-03-02||2016-03-02|U61736||1768|ENSG00000115423|8812413|NM_001370|536|Dyneins_%2C__%20_axonemal|CCDS46348|OTTHUMG00000128957|1768|603336|NM_001370|Q9C0G6|ENSG00000115423|uc010fgb.3|DYH6_HUMAN||A0PJN9_%7C_B5MEE0_%7C_B7ZL99_%7C_O95493_%7C_Q53QZ1_%7C_Q53TE5_%7C_Q8N1W6_%7C_Q92861_%7C_Q96BL6_%7C_Q9H030_%7C_Q9H5E1|Q9C0G6|cilium_%20_or_%20_flagellum-dependent_%20_cell_%20_motility_%20_(GO:0001539)_%7C_metabolic_%20_process_%20_(GO:0008152)_%7C_microtubule-based_%20_movement_%20_(GO:0007018)|axonemal_%20_dynein_%20_complex_%20_(GO:0005858)_%7C_microtubule_%20_(GO:0005874)|ATP_%20_binding_%20_(GO:0005524)_%7C_ATPase_%20_activity_%20_(GO:0016887)_%7C_microtubule_%20_motor_%20_activity_%20_(GO:0003777)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 85629266 exm207178 C T . PASS FUNCOTATION=[CAPG|hg19|chr2|85629266|85629266|START_CODON_SNP||SNP|C|C|T|g.chr2:85629266C>T|ENST00000409921.1|-|2|70|c.3G>A|c.(1-3)atG>atA|p.M1I|0.5261845386533666|TGGCTGTGTACATGCTGTCTT|CAPG_ENST00000263867.4_START_CODON_SNP_p.M1I/CAPG_ENST00000409670.1_START_CODON_SNP_p.M1I/CAPG_ENST00000409724.1_START_CODON_SNP_p.M1I/CAPG_ENST00000483659.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||161|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_lung(1)_%7C_pancreas(22)|||||||U12026|||HGNC:1474|capping_%20_actin_%20_protein_%2C__%20_gelsolin_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AFCP|"capping_%20_protein_%20_(actin_%20_filament)_%2C__%20_gelsolin-like"|MCP|"macrophage_%20_capping_%20_protein"|2p11.2|2016-01-18||2016-01-18|M94345||822|ENSG00000042493|1322908_%2C__%20_12754261|NM_001747|950|Gelsolin/villins|CCDS1974_%2C__%20_CCDS58715|OTTHUMG00000130183|822|153615|NM_001256139|P40121|ENSG00000042493|uc061lgh.1|CND3_HUMAN||Q3MJE0_%7C_Q96SV9_%7C_Q9BUR3_%7C_Q9BVY1_%7C_Q9H914_%7C_Q9H9Z6_%7C_Q9HBI9|Q9BPX3|mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_mitotic_%20_chromosome_%20_condensation_%20_(GO:0007076)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_centrosome_%20_(GO:0005813)_%7C_condensin_%20_complex_%20_(GO:0000796)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 86849962 indel.61839 G GC . PASS FUNCOTATION=[RNF103|hg19|chr2|86849962|86849963|FRAME_SHIFT_INS||INS|-|-|C|g.chr2:86849962_86849963insC|ENST00000237455.4|-|1|1017|c.47_48insG|c.(46-48)ttcfs|p.F16fs|0.6125|GGCCAGGACGAACAGGACCA|RNF103-CHMP3_ENST00000604011.1_INTRON/CHMP3_ENST00000439940.2_INTRON/RNF103_ENST00000477307.1_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||D76444|NM_005667.3|NP_005658.1|HGNC:12859|ring_%20_finger_%20_protein_%20_103|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZFP103|"zinc_%20_finger_%20_protein_%20_103_%20_homolog_%20_(mouse)"|hkf-1_%2C__%20_KF1||2p11.2|2014-11-19|2003-05-16|2003-05-14|D76444||7844|ENSG00000239305|9070305|NM_005667|58|Ring_%20_finger_%20_proteins|CCDS33237|OTTHUMG00000153197|7844|602507|NM_001198951|O00237|ENSG00000239305|uc002srn.4|RN103_HUMAN||A6NFV6_%7C_B2RAG4_%7C_Q53SU6_%7C_Q8IVB9|O00237|central_%20_nervous_%20_system_%20_development_%20_(GO:0007417)_%7C_ER-associated_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0030433)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|ligase_%20_activity_%20_(GO:0016874)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 96859067 indel.61977 T TC . PASS FUNCOTATION=[STARD7|hg19|chr2|96859067|96859068|FRAME_SHIFT_INS||INS|-|-|C|g.chr2:96859067_96859068insC|ENST00000337288.5|-|4|957|c.572_573insG|c.(571-573)aaafs|p.W192fs|0.4125|GGCATCCCATTTTTTTCTAT|STARD7_ENST00000462501.1_INTRON|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471207|NM_020151.3|NP_064536.2|HGNC:18063|StAR_%20_related_%20_lipid_%20_transfer_%20_domain_%20_containing_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"START_%20_domain_%20_containing_%20_7"|GTT1||2q11.2|2016-10-05||2015-11-20|AF270647||56910|ENSG00000084090|||759|StAR_%20_related_%20_lipid_%20_transfer_%20_domain_%20_containing|CCDS2017|OTTHUMG00000130457|56910|616712|NM_020151|Q9NQZ5|ENSG00000084090|uc002svm.6|STAR7_HUMAN||D3DXG9_%7C_Q53T44_%7C_Q6GU43_%7C_Q969M6|Q9NQZ5||mitochondrion_%20_(GO:0005739)|lipid_%20_binding_%20_(GO:0008289)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 101086951 exm216544 A G . PASS FUNCOTATION=[NMS|hg19|chr2|101086951|101086951|START_CODON_SNP||SNP|A|A|G|g.chr2:101086951A>G|ENST00000376865.1|+|1|8|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5536159600997507|GACTCTCACAATGAAACATCT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AB164464|NM_001011717.1|NP_001011717.1|HGNC:32203|neuromedin_%20_S|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||||"prepro-NMS"|2q11.2|2014-11-19|||AB164464||129521|ENSG00000204640|15635449|NM_001011717|542|Endogenous_%20_ligands|CCDS33259|OTTHUMG00000153142|129521||NM_001011717|Q5H8A3|ENSG00000204640|uc002tan.1|NMS_HUMAN|||Q5H8A3|neuropeptide_%20_signaling_%20_pathway_%20_(GO:0007218)|extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 101086952 exm216545 T C . PASS FUNCOTATION=[NMS|hg19|chr2|101086952|101086952|START_CODON_SNP||SNP|T|T|C|g.chr2:101086952T>C|ENST00000376865.1|+|1|9|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.5536159600997507|ACTCTCACAATGAAACATCTT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AB164464|NM_001011717.1|NP_001011717.1|HGNC:32203|neuromedin_%20_S|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||||"prepro-NMS"|2q11.2|2014-11-19|||AB164464||129521|ENSG00000204640|15635449|NM_001011717|542|Endogenous_%20_ligands|CCDS33259|OTTHUMG00000153142|129521||NM_001011717|Q5H8A3|ENSG00000204640|uc002tan.1|NMS_HUMAN|||Q5H8A3|neuropeptide_%20_signaling_%20_pathway_%20_(GO:0007218)|extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 102804330 exm1974089 G C . PASS FUNCOTATION=[IL1RL2|hg19|chr2|102804330|102804330|START_CODON_SNP||SNP|G|G|C|g.chr2:102804330G>C|ENST00000264257.2|+|2|129|c.3G>C|c.(1-3)atG>atC|p.M1I|0.6633416458852868|GTTTGGGGATGTGGTCCTTGC|IL1RL2_ENST00000539491.1_START_CODON_SNP_p.M1I/IL1RL2_ENST00000441515.2_MISSENSE_p.C28S/IL1RL2_ENST00000481806.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U49065|NM_003854.2|NP_003845.2|HGNC:5999|interleukin_%20_1_%20_receptor_%20_like_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||IL1R-rp2_%2C__%20_IL1RRP2||2q12.1|2016-10-05||2016-01-12|U49065||8808|ENSG00000115598|8898719_%2C__%20_10191101_%2C__%20_11466363|NM_003854|594_%7C_602_%7C_1296|Immunoglobulin_%20_like_%20_domain_%20_containing_%7C_Interleukin_%20_receptors_%7C_TIR_%20_domain_%20_containing|CCDS2056|OTTHUMG00000130776|8808|604512|NM_003854|Q9HB29|ENSG00000115598|uc002tbs.4|ILRL2_HUMAN||A4FU63_%7C_Q13525_%7C_Q45H74_%7C_Q53TU8_%7C_Q587I8|Q9HB29|cellular_%20_defense_%20_response_%20_(GO:0006968)_%7C_cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_positive_%20_regulation_%20_of_%20_interleukin-6_%20_production_%20_(GO:0032755)_%7C_positive_%20_regulation_%20_of_%20_T_%20_cell_%20_differentiation_%20_(GO:0045582)_%7C_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050727)_%7C_signal_%20_transduction_%20_(GO:0007165)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|interleukin-1_%20_receptor_%20_activity_%20_(GO:0004908)_%7C_interleukin-1_%2C__%20_Type_%20_I_%2C__%20_activating_%20_receptor_%20_activity_%20_(GO:0004909)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 108863652 exm218990 T C . PASS FUNCOTATION=[SULT1C3|hg19|chr2|108863652|108863652|START_CODON_SNP||SNP|T|T|C|g.chr2:108863652T>C|ENST00000329106.2|+|1|2|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.32917705735660846|AGATTCCCAATGGCGAAGATT|SULT1C3_ENST00000376700.1_START_CODON_SNP_p.M1T|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BK001432|NM_001008743.1|NP_001008743.1|HGNC:33543|sulfotransferase_%20_family_%20_1C_%20_member_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sulfotransferase_%20_family_%2C__%20_cytosolic_%2C__%20_1C_%2C__%20_member_%20_3"|||2q12.3|2015-11-06||2015-11-06|BC146362||442038|ENSG00000196228|14676822_%2C__%20_17425406|NM_001008743|762|Sulfotransferases_%2C__%20_cytosolic|CCDS33267|OTTHUMG00000153227|442038|617151|NM_001008743|Q6IMI6|ENSG00000196228|uc010ywo.2|ST1C3_HUMAN||Q6IMI5|Q6IMI6|sulfur_%20_compound_%20_metabolic_%20_process_%20_(GO:0006790)|cytoplasm_%20_(GO:0005737)|alcohol_%20_sulfotransferase_%20_activity_%20_(GO:0004027)_%7C_aryl_%20_sulfotransferase_%20_activity_%20_(GO:0004062)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 109087292 indel.62391 C CG . PASS FUNCOTATION=[GCC2|hg19|chr2|109087292|109087293|FRAME_SHIFT_INS||INS|-|-|G|g.chr2:109087292_109087293insG|ENST00000309863.6|+|6|2221|c.1507_1508insG|c.(1507-1509)caafs|p.Q503fs|0.35|AAAATAAGTCAAGAGTTCGA||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471182|NM_181453.3|NP_852118.1|HGNC:23218|GRIP_%20_and_%20_coiled-coil_%20_domain_%20_containing_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"GRIP_%20_and_%20_coiled-coil_%20_domain-containing_%20_2"|GCC185_%2C__%20_KIAA0336||2q12.3|2015-08-25||2004-03-05|BC020645||9648|ENSG00000135968|12446665|NM_014635|||CCDS33268|OTTHUMG00000153214|9648|612711|NM_181453|Q8IWJ2|ENSG00000135968|uc002tec.4|GCC2_HUMAN||A6H8X8_%7C_O15045_%7C_Q4ZG46_%7C_Q8TDH3_%7C_Q9H2G8|Q8IWJ2|Golgi_%20_ribbon_%20_formation_%20_(GO:0090161)_%7C_late_%20_endosome_%20_to_%20_Golgi_%20_transport_%20_(GO:0034499)_%7C_microtubule_%20_anchoring_%20_(GO:0034453)_%7C_microtubule_%20_organizing_%20_center_%20_organization_%20_(GO:0031023)_%7C_protein_%20_localization_%20_to_%20_Golgi_%20_apparatus_%20_(GO:0034067)_%7C_protein_%20_targeting_%20_to_%20_Golgi_%20_(GO:0000042)_%7C_protein_%20_targeting_%20_to_%20_lysosome_%20_(GO:0006622)_%7C_recycling_%20_endosome_%20_to_%20_Golgi_%20_transport_%20_(GO:0071955)_%7C_regulation_%20_of_%20_protein_%20_exit_%20_from_%20_endoplasmic_%20_reticulum_%20_(GO:0070861)_%7C_retrograde_%20_transport_%2C__%20_endosome_%20_to_%20_Golgi_%20_(GO:0042147)|cytoplasm_%20_(GO:0005737)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)_%7C_trans-Golgi_%20_network_%20_(GO:0005802)|identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 113765465 indel.62587 C CGA . PASS FUNCOTATION=[IL36A|hg19|chr2|113765465|113765466|FRAME_SHIFT_INS||INS|-|-|GA|g.chr2:113765465_113765466insGA|ENST00000259211.6|+|4|732|c.321_322insGA|c.(322-324)tacfs|p.Y108fs|0.4625|CTTTCTCTTCTACCACAGCC||||||||||||||||||||||||||132|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_skin(42)|||||||BN000002|NM_014440.1|NP_055255.1|HGNC:15562|interleukin_%20_36_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|IL1F6|"interleukin_%20_1_%20_family_%2C__%20_member_%20_6_%20_(epsilon)"|FIL1_%2C__%20_FIL1E_%2C__%20_IL-1F6_%2C__%20_IL1(EPSILON)_%2C__%20_MGC129553_%2C__%20_MGC129552||2q14.1|2017-09-14|2011-06-06|2017-09-14|AF201831||27179|ENSG00000136694|10625660|NM_014440|601|Interleukins|CCDS42734|OTTHUMG00000153320|27179|605509|NM_014440|Q9UHA7|ENSG00000136694|uc010yxr.3|IL36A_HUMAN||B2RAD9_%7C_Q53SR7_%7C_Q5BLR4_%7C_Q7RTZ8|Q9UHA7|immune_%20_response_%20_(GO:0006955)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_positive_%20_regulation_%20_of_%20_interleukin-6_%20_production_%20_(GO:0032755)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|interleukin-1_%20_receptor_%20_binding_%20_(GO:0005149)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 135926351 exm229562 A G . PASS FUNCOTATION=[RAB3GAP1|hg19|chr2|135926351|135926351|NONSTOP||SNP|A|A|G|g.chr2:135926351A>G|ENST00000264158.8|+|24|2989|c.2946A>G|c.(2944-2946)tgA>tgG|p.*982W|0.5586034912718204|CCTTCTTCTGATTCTTCTAGC|RAB3GAP1_ENST00000442034.1_NONSTOP_p.*989W/RAB3GAP1_ENST00000539493.1_INTRON/RAB3GAP1_ENST00000487003.1_INTRON/ZRANB3_ENST00000412849.1_INTRON|||||||||||||||||||||||||99|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(7)|||||||D31886|NM_012233.2|NP_036365.1|HGNC:17063|RAB3_%20_GTPase_%20_activating_%20_protein_%20_catalytic_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"RAB3_%20_GTPase_%20_activating_%20_protein_%20_subunit_%20_1_%20_(catalytic)"|RAB3GAP_%2C__%20_KIAA0066_%2C__%20_RAB3GAP130_%2C__%20_WARBM1||2q21.3|2015-11-18||2015-11-18|D31886||22930|ENSG00000115839|9030515_%2C__%20_15696165|NM_012233|||CCDS33294_%2C__%20_CCDS54402|OTTHUMG00000154889|22930|602536|NM_001172435|Q15042|ENSG00000115839|uc002tuj.4|RB3GP_HUMAN||A6H8Z3_%7C_C9J837_%7C_Q659F5_%7C_Q8TBB4|Q15042|brain_%20_development_%20_(GO:0007420)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_establishment_%20_of_%20_protein_%20_localization_%20_to_%20_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0097051)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_hypothalamus_%20_development_%20_(GO:0021854)_%7C_lipid_%20_particle_%20_organization_%20_(GO:0034389)_%7C_positive_%20_regulation_%20_of_%20_endoplasmic_%20_reticulum_%20_tubular_%20_network_%20_organization_%20_(GO:1903373)_%7C_positive_%20_regulation_%20_of_%20_GTP_%20_catabolic_%20_process_%20_(GO:0033126)_%7C_positive_%20_regulation_%20_of_%20_Rab_%20_GTPase_%20_activity_%20_(GO:0032851)_%7C_regulation_%20_of_%20_calcium_%20_ion-dependent_%20_exocytosis_%20_of_%20_neurotransmitter_%20_(GO:1903233)_%7C_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:0060079)_%7C_regulation_%20_of_%20_GTPase_%20_activity_%20_(GO:0043087)_%7C_regulation_%20_of_%20_short-term_%20_neuronal_%20_synaptic_%20_plasticity_%20_(GO:0048172)|cytoplasm_%20_(GO:0005737)_%7C_endoplasmic_%20_reticulum_%20_tubular_%20_network_%20_(GO:0071782)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_protein_%20_complex_%20_(GO:0043234)|Rab_%20_GTPase_%20_activator_%20_activity_%20_(GO:0005097)_%7C_Rab_%20_GTPase_%20_binding_%20_(GO:0017137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 150294223 exm231995 A G . PASS FUNCOTATION=[LYPD6|hg19|chr2|150294223|150294223|START_CODON_SNP||SNP|A|A|G|g.chr2:150294223A>G|ENST00000334166.4|+|2|258|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5037406483790524|TCAGTCTGCCATGGAACCTGG|LYPD6_ENST00000409381.1_START_CODON_SNP_p.M1V|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471058|NM_194317.3|NP_919298.1|HGNC:28751|LY6/PLAUR_%20_domain_%20_containing_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC52057||2q23.2|2014-11-19|||BC047013||130574|ENSG00000187123|12477932|NM_194317|1226|LY6/PLAUR_%20_domain_%20_containing|CCDS2188|OTTHUMG00000131852|130574|613359|NM_001195685|Q86Y78|ENSG00000187123|uc021vqt.2|LYPD6_HUMAN||B3KWC0_%7C_Q4G121_%7C_Q53TR3_%7C_Q659B1|Q86Y78||extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 152511831 indel.63250 T TC . PASS FUNCOTATION=[NEB|hg19|chr2|152511831|152511832|FRAME_SHIFT_INS||INS|-|-|C|g.chr2:152511831_152511832insC|ENST00000604864.1|-|49|6760|c.6759_6760insG|c.(6760-6762)acafs|p.T2254fs|0.295|TATCTGGTGTATCAGGCATC|NEB_ENST00000603639.1_FRAME_SHIFT_INS_p.T2254fs/NEB_ENST00000409198.1_FRAME_SHIFT_INS_p.T2254fs/NEB_ENST00000427231.2_FRAME_SHIFT_INS_p.T2254fs/NEB_ENST00000397345.3_FRAME_SHIFT_INS_p.T2254fs/NEB_ENST00000172853.10_FRAME_SHIFT_INS_p.T2254fs|||||||||||||||||||||||||162|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(25)_%7C_kidney(1)_%7C_large_intestine(35)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||AC116650|||HGNC:7720|nebulin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|NEM2||NEB177D|"nemaline_%20_myopathy_%20_type_%20_2"|2q23.3|2017-03-24|||X83957||4703|ENSG00000183091|10051637_%2C__%20_9359044|NM_004543|||CCDS46424_%2C__%20_CCDS54407_%2C__%20_CCDS54408_%2C__%20_CCDS74588|OTTHUMG00000153784|4703|161650|NM_001164507|P20929|ENSG00000183091|uc031rpp.1|NEBU_HUMAN||F8WCL5_%7C_F8WCP0_%7C_Q15346_%7C_Q53QQ2_%7C_Q53TG8|P20929|muscle_%20_filament_%20_sliding_%20_(GO:0030049)_%7C_muscle_%20_organ_%20_development_%20_(GO:0007517)_%7C_regulation_%20_of_%20_actin_%20_filament_%20_length_%20_(GO:0030832)_%7C_somatic_%20_muscle_%20_development_%20_(GO:0007525)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Z_%20_disc_%20_(GO:0030018)|structural_%20_constituent_%20_of_%20_muscle_%20_(GO:0008307)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 167759994 exm238877 T C . PASS FUNCOTATION=[XIRP2|hg19|chr2|167759994|167759994|START_CODON_SNP||SNP|T|T|C|g.chr2:167759994T>C|ENST00000409728.1|+|2|91|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.45885286783042395|GACCCATCCATGTTCCCAATG|XIRP2_ENST00000409043.1_START_CODON_SNP_p.M1T/XIRP2_ENST00000409195.1_START_CODON_SNP_p.M1T/XIRP2_ENST00000420519.1_START_CODON_SNP_p.M1T/XIRP2_ENST00000409756.2_START_CODON_SNP_p.M1T/XIRP2_ENST00000295237.9_START_CODON_SNP_p.M1T|||||||||||||||||||||||||209|biliary_tract(4)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(104)_%7C_large_intestine(11)_%7C_lung(1)_%7C_oesophagus(12)_%7C_pancreas(22)|||||||EF119722|NM_001199143.1|NP_001186072.1|HGNC:14303|xin_%20_actin_%20_binding_%20_repeat_%20_containing_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CMYA3|"cardiomyopathy_%20_associated_%20_3"||"myomaxin"|2q24.3|2016-10-05|2007-06-27|2015-04-29|AK056582||129446|ENSG00000163092|17046827_%2C__%20_12203715_%2C__%20_15454575|NM_152381|1218|LIM_%20_domain_%20_containing|CCDS42768_%2C__%20_CCDS42769_%2C__%20_CCDS56143_%2C__%20_CCDS56144_%2C__%20_CCDS56145|OTTHUMG00000154027|129446|609778|NM_001079810|A4UGR9|ENSG00000163092|uc002udx.4|XIRP2_HUMAN||A0PJ94_%7C_B2BBS0_%7C_B2BBS1_%7C_B2BBS4_%7C_B3KVH0_%7C_J3KNB1_%7C_Q53R52_%7C_Q5MJ67_%7C_Q702N7_%7C_Q86T36_%7C_Q86T38_%7C_Q86T46_%7C_Q86T51_%7C_Q86T53_%7C_Q86T55_%7C_Q86T79_%7C_Q86TB6_%7C_Q8N1M9_%7C_Q8N3R5_%7C_Q8TBV6|A4UGR9|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_cardiac_%20_muscle_%20_tissue_%20_morphogenesis_%20_(GO:0055008)_%7C_cell-cell_%20_junction_%20_organization_%20_(GO:0045216)_%7C_ventricular_%20_septum_%20_development_%20_(GO:0003281)|cell_%20_junction_%20_(GO:0030054)_%7C_Z_%20_disc_%20_(GO:0030018)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 169727989 indel.63772 A AT . PASS FUNCOTATION=[SPC25|hg19|chr2|169727989|169727990|FRAME_SHIFT_INS||INS|-|-|T|g.chr2:169727989_169727990insT|ENST00000282074.2|-|7|769|c.626_627insA|c.(625-627)gctfs|p.L211fs|0.31|GGCAAGAAAAGCTGAAAAAT||||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR457197|NM_020675.3|NP_065726.1|HGNC:24031|SPC25_%2C__%20_NDC80_%20_kinetochore_%20_complex_%20_component|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SPBC25|"spindle_%20_pole_%20_body_%20_component_%20_25_%20_homolog_%20_(S._%20_cerevisiae)"_%2C__%20_"SPC25_%2C__%20_NDC80_%20_kinetochore_%20_complex_%20_component_%2C__%20_homolog_%20_(S._%20_cerevisiae)"|MGC22228_%2C__%20_AD024||2q31.1|2017-11-28|2007-03-02|2013-06-05|AF225416||57405|ENSG00000152253|15961401|NM_020675|1573|NDC80_%20_kinetochore_%20_complex_%20_|CCDS2229|OTTHUMG00000132181|57405|609395|NM_020675|Q9HBM1|ENSG00000152253|uc002uel.4|SPC25_HUMAN||A8K4X8_%7C_D3DPC0|Q9HBM1|chromosome_%20_segregation_%20_(GO:0007059)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_mitotic_%20_spindle_%20_organization_%20_(GO:0007052)|condensed_%20_chromosome_%20_kinetochore_%20_(GO:0000777)_%7C_cytosol_%20_(GO:0005829)_%7C_Ndc80_%20_complex_%20_(GO:0031262)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 169923213 kgp14846241 C T . PASS FUNCOTATION=[DHRS9|hg19|chr2|169923213|169923213|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr2:169923213C>T|ENST00000602501.1|+|2|||||0.38902743142144636|CACTTTTCAACGCAGGACCTC|DHRS9_ENST00000327239.4_DE_NOVO_START_IN_FRAME/DHRS9_ENST00000357546.2_FIVE_PRIME_FLANK/DHRS9_ENST00000421653.1_FIVE_PRIME_FLANK/DHRS9_ENST00000428522.1_FIVE_PRIME_FLANK/DHRS9_ENST00000432060.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471058|||HGNC:16888|dehydrogenase/reductase_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dehydrogenase/reductase_%20_(SDR_%20_family)_%20_member_%20_9"|RDHL_%2C__%20_3alpha-HSD_%2C__%20_RETSDR8_%2C__%20_RDH15_%2C__%20_SDR9C4|"NADP-dependent_%20_retinol_%20_dehydrogenase/reductase"_%2C__%20_"3-alpha_%20_hydroxysteroid_%20_dehydrogenase"_%2C__%20_"retinol_%20_dehydrogenase_%20_homolog"_%2C__%20_"short_%20_chain_%20_dehydrogenase/reductase_%20_family_%20_9C_%2C__%20_member_%20_4"|2q31.1|2016-05-27||2016-05-27|AF067174||10170|ENSG00000073737|11304534_%2C__%20_11294878_%2C__%20_19027726|NM_005771|743|Short_%20_chain_%20_dehydrogenase/reductase_%20_superfamily|CCDS2231_%2C__%20_CCDS74600|OTTHUMG00000132180|10170|612131|NM_001142270|Q9BPW9|ENSG00000073737|uc061phg.1|DHRS9_HUMAN||B7Z416_%7C_D3DPC1_%7C_Q5RKX1_%7C_Q9NRA9_%7C_Q9NRB0|Q9BPW9|9-cis-retinoic_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0042904)_%7C_androgen_%20_metabolic_%20_process_%20_(GO:0008209)_%7C_epithelial_%20_cell_%20_differentiation_%20_(GO:0030855)_%7C_progesterone_%20_metabolic_%20_process_%20_(GO:0042448)_%7C_retinol_%20_metabolic_%20_process_%20_(GO:0042572)|integral_%20_component_%20_of_%20_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0030176)|alcohol_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004022)_%7C_racemase_%20_and_%20_epimerase_%20_activity_%20_(GO:0016854)_%7C_retinol_%20_dehydrogenase_%20_activity_%20_(GO:0004745)_%7C_testosterone_%20_dehydrogenase_%20_(NAD+)_%20_activity_%20_(GO:0047035)||||true|false|0.9796_%2C_._%2C_0.02037|false|false|1||false|true|false|DHRS9:10170|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|16856426|169923213|false|false|0|true|0|false|0.997733_%2C_._%2C_0.00226664|false|false|true|SNV|true|0x050100420005150436000100|1|false|123|rs16856426|] -chr2 169926086 rs11889286 C T . PASS FUNCOTATION=[DHRS9|hg19|chr2|169926086|169926086|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr2:169926086C>T|ENST00000357546.2|+|2|||||0.4239401496259352|CAGAGCTCTACGGAAACCCAG|DHRS9_ENST00000428522.1_DE_NOVO_START_OUT_FRAME/DHRS9_ENST00000327239.4_INTRON/DHRS9_ENST00000602501.1_INTRON/DHRS9_ENST00000421653.1_DE_NOVO_START_OUT_FRAME/DHRS9_ENST00000432060.2_INTRON/DHRS9_ENST00000436483.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471058|NM_199204.1|NP_954674.1|HGNC:16888|dehydrogenase/reductase_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dehydrogenase/reductase_%20_(SDR_%20_family)_%20_member_%20_9"|RDHL_%2C__%20_3alpha-HSD_%2C__%20_RETSDR8_%2C__%20_RDH15_%2C__%20_SDR9C4|"NADP-dependent_%20_retinol_%20_dehydrogenase/reductase"_%2C__%20_"3-alpha_%20_hydroxysteroid_%20_dehydrogenase"_%2C__%20_"retinol_%20_dehydrogenase_%20_homolog"_%2C__%20_"short_%20_chain_%20_dehydrogenase/reductase_%20_family_%20_9C_%2C__%20_member_%20_4"|2q31.1|2016-05-27||2016-05-27|AF067174||10170|ENSG00000073737|11304534_%2C__%20_11294878_%2C__%20_19027726|NM_005771|743|Short_%20_chain_%20_dehydrogenase/reductase_%20_superfamily|CCDS2231_%2C__%20_CCDS74600|OTTHUMG00000132180|10170|612131|NM_001142270|Q9BPW9|ENSG00000073737|uc061phg.1|DHRS9_HUMAN||B7Z416_%7C_D3DPC1_%7C_Q5RKX1_%7C_Q9NRA9_%7C_Q9NRB0|Q9BPW9|9-cis-retinoic_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0042904)_%7C_androgen_%20_metabolic_%20_process_%20_(GO:0008209)_%7C_epithelial_%20_cell_%20_differentiation_%20_(GO:0030855)_%7C_progesterone_%20_metabolic_%20_process_%20_(GO:0042448)_%7C_retinol_%20_metabolic_%20_process_%20_(GO:0042572)|integral_%20_component_%20_of_%20_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0030176)|alcohol_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004022)_%7C_racemase_%20_and_%20_epimerase_%20_activity_%20_(GO:0016854)_%7C_retinol_%20_dehydrogenase_%20_activity_%20_(GO:0004745)_%7C_testosterone_%20_dehydrogenase_%20_(NAD+)_%20_activity_%20_(GO:0047035)||||true|false|0.9786_%2C_0.02137|false|false|1||false|true|false|DHRS9:10170|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11889286|169926086|false|false|0|true|0|false|0.971118_%2C_0.0288825|false|false|true|SNV|true|0x05010048000515053f000100|1|false|120|rs11889286|] -chr2 175614897 indel.64033 C CT . PASS FUNCOTATION=[CHRNA1|hg19|chr2|175614897|175614898|SPLICE_SITE|FRAME_SHIFT_INS|INS|-|-|T|g.chr2:175614897_175614898insT|ENST00000409219.1|-|7|797|c.778_779insA|c.(778-780)gggfs|p.G260fs|0.4625|ATCTTCTCCCCTGAAAAGAC|CHRNA1_ENST00000348749.5_SPLICE_SITE_p.G260fs/CHRNA1_ENST00000261007.5_SPLICE_SITE_p.G285fs/CHRNA1_ENST00000409542.1_SPLICE_SITE_p.G178fs/AC018890.6_ENST00000442996.1_RNA|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||AC018890|||HGNC:1955|cholinergic_%20_receptor_%20_nicotinic_%20_alpha_%20_1_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CHRNA|"cholinergic_%20_receptor_%2C__%20_nicotinic_%2C__%20_alpha_%20_polypeptide_%20_1_%20_(muscle)"_%2C__%20_"cholinergic_%20_receptor_%2C__%20_nicotinic_%2C__%20_alpha_%20_1_%20_(muscle)"_%2C__%20_"cholinergic_%20_receptor_%2C__%20_nicotinic_%20_alpha_%20_1"||"acetylcholine_%20_receptor_%2C__%20_nicotinic_%2C__%20_alpha_%20_1_%20_(muscle)"|2q31.1|2016-02-04||2016-02-04|Y00762||1134|ENSG00000138435|||173|Cholinergic_%20_receptors_%20_nicotinic_%20_subunits|CCDS2261_%2C__%20_CCDS33331|OTTHUMG00000132357|1134|100690|NM_000079|P02708|ENSG00000138435|uc002uje.3|ACHA_HUMAN|Galantamine(DB00674)|B4DRV6_%7C_D3DPE8|P02708|cation_%20_transmembrane_%20_transport_%20_(GO:0098655)_%7C_cation_%20_transport_%20_(GO:0006812)_%7C_ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_muscle_%20_cell_%20_cellular_%20_homeostasis_%20_(GO:0046716)_%7C_musculoskeletal_%20_movement_%20_(GO:0050881)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neuromuscular_%20_process_%20_(GO:0050905)_%7C_neuromuscular_%20_synaptic_%20_transmission_%20_(GO:0007274)_%7C_neuron_%20_cellular_%20_homeostasis_%20_(GO:0070050)_%7C_neuronal_%20_action_%20_potential_%20_(GO:0019228)_%7C_regulation_%20_of_%20_membrane_%20_potential_%20_(GO:0042391)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_skeletal_%20_muscle_%20_contraction_%20_(GO:0003009)_%7C_skeletal_%20_muscle_%20_tissue_%20_growth_%20_(GO:0048630)_%7C_synaptic_%20_transmission_%20_(GO:0007268)_%7C_transport_%20_(GO:0006810)|acetylcholine-gated_%20_channel_%20_complex_%20_(GO:0005892)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_neuromuscular_%20_junction_%20_(GO:0031594)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|acetylcholine_%20_binding_%20_(GO:0042166)_%7C_acetylcholine_%20_receptor_%20_activity_%20_(GO:0015464)_%7C_acetylcholine-activated_%20_cation-selective_%20_channel_%20_activity_%20_(GO:0004889)_%7C_ion_%20_channel_%20_activity_%20_(GO:0005216)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 175629122 exm243337 T C . PASS FUNCOTATION=[CHRNA1|hg19|chr2|175629122|175629122|START_CODON_SNP||SNP|T|T|C|g.chr2:175629122T>C|ENST00000409219.1|-|1|19|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5760598503740648|CAGGGCTCCATGGGCTACCGG|CHRNA1_ENST00000348749.5_START_CODON_SNP_p.M1V/CHRNA1_ENST00000261007.5_START_CODON_SNP_p.M1V/CHRNA1_ENST00000409323.1_START_CODON_SNP_p.M1V/CHRNA1_ENST00000409542.1_START_CODON_SNP_p.M1V/AC018890.6_ENST00000442996.1_RNA|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||AC018890|||HGNC:1955|cholinergic_%20_receptor_%20_nicotinic_%20_alpha_%20_1_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CHRNA|"cholinergic_%20_receptor_%2C__%20_nicotinic_%2C__%20_alpha_%20_polypeptide_%20_1_%20_(muscle)"_%2C__%20_"cholinergic_%20_receptor_%2C__%20_nicotinic_%2C__%20_alpha_%20_1_%20_(muscle)"_%2C__%20_"cholinergic_%20_receptor_%2C__%20_nicotinic_%20_alpha_%20_1"||"acetylcholine_%20_receptor_%2C__%20_nicotinic_%2C__%20_alpha_%20_1_%20_(muscle)"|2q31.1|2016-02-04||2016-02-04|Y00762||1134|ENSG00000138435|||173|Cholinergic_%20_receptors_%20_nicotinic_%20_subunits|CCDS2261_%2C__%20_CCDS33331|OTTHUMG00000132357|1134|100690|NM_000079|P02708|ENSG00000138435|uc002uje.3|ACHA_HUMAN|Galantamine(DB00674)|B4DRV6_%7C_D3DPE8|P02708|cation_%20_transmembrane_%20_transport_%20_(GO:0098655)_%7C_cation_%20_transport_%20_(GO:0006812)_%7C_ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_muscle_%20_cell_%20_cellular_%20_homeostasis_%20_(GO:0046716)_%7C_musculoskeletal_%20_movement_%20_(GO:0050881)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neuromuscular_%20_process_%20_(GO:0050905)_%7C_neuromuscular_%20_synaptic_%20_transmission_%20_(GO:0007274)_%7C_neuron_%20_cellular_%20_homeostasis_%20_(GO:0070050)_%7C_neuronal_%20_action_%20_potential_%20_(GO:0019228)_%7C_regulation_%20_of_%20_membrane_%20_potential_%20_(GO:0042391)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_skeletal_%20_muscle_%20_contraction_%20_(GO:0003009)_%7C_skeletal_%20_muscle_%20_tissue_%20_growth_%20_(GO:0048630)_%7C_synaptic_%20_transmission_%20_(GO:0007268)_%7C_transport_%20_(GO:0006810)|acetylcholine-gated_%20_channel_%20_complex_%20_(GO:0005892)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_neuromuscular_%20_junction_%20_(GO:0031594)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|acetylcholine_%20_binding_%20_(GO:0042166)_%7C_acetylcholine_%20_receptor_%20_activity_%20_(GO:0015464)_%7C_acetylcholine-activated_%20_cation-selective_%20_channel_%20_activity_%20_(GO:0004889)_%7C_ion_%20_channel_%20_activity_%20_(GO:0005216)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 178415667 indel.64070 T TC . PASS FUNCOTATION=[TTC30B|hg19|chr2|178415667|178415668|FRAME_SHIFT_INS||INS|-|-|C|g.chr2:178415667_178415668insC|ENST00000408939.3|-|1|2076|c.1824_1825insG|c.(1825-1827)attfs|p.I609fs|0.365|ATTCTTGAATAACACTATCA||||||||||||||||||||||||||88|kidney(88)|||||||CH471058|NM_152517.2|NP_689730.2|HGNC:26425|tetratricopeptide_%20_repeat_%20_domain_%20_30B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ30990_%2C__%20_fleer_%2C__%20_IFT70B||2q31.2|2015-08-26|||AK055552||150737|ENSG00000196659|12477932|NM_152517|615_%7C_769|Intraflagellar_%20_transport_%20_proteins_%7C_Tetratricopeptide_%20_repeat_%20_domain_%20_containing|CCDS42784|OTTHUMG00000154166|150737||NM_152517|Q8N4P2|ENSG00000196659|uc002uln.4|TT30B_HUMAN||Q63HQ1_%7C_Q96NE6|Q8N4P2|cilium_%20_assembly_%20_(GO:0042384)_%7C_intraciliary_%20_transport_%20_(GO:0042073)|cilium_%20_(GO:0005929)_%7C_intraciliary_%20_transport_%20_particle_%20_B_%20_(GO:0030992)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 187487140 indel.64390 A ACCT . PASS FUNCOTATION=[ITGAV|hg19|chr2|187487140|187487141|IN_FRAME_INS||INS|-|-|CCT|g.chr2:187487140_187487141insCCT|ENST00000261023.3|+|3|665|c.391_392insCCT|c.(391-393)aaa>aCCTaa|p.K131T*|0.3675|GTGAGGTCGAAACAGGATAA|ITGAV_ENST00000374907.3_IN_FRAME_INS_p.K131T*/ITGAV_ENST00000433736.2_IN_FRAME_INS_p.K85T*|Melanoma(58_%3B_108_%20_1995_%20_6081)||||||||||||||||||||||||274|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(12)_%7C_lung(2)_%7C_pancreas(22)_%7C_soft_tissue(1)|||||||U07375|NM_002210.4|NP_002201.1|HGNC:6150|integrin_%20_subunit_%20_alpha_%20_V|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|VNRA_%2C__%20_MSK8_%2C__%20_VTNR|"antigen_%20_identified_%20_by_%20_monoclonal_%20_antibody_%20_L230"_%2C__%20_"vitronectin_%20_receptor"_%2C__%20_"integrin_%2C__%20_alpha_%20_V_%20_(vitronectin_%20_receptor_%2C__%20_alpha_%20_polypeptide_%2C__%20_antigen_%20_CD51)"_%2C__%20_"integrin_%2C__%20_alpha_%20_V"|CD51||2q32.1|2016-10-05||2015-12-15|||3685|ENSG00000138448|2454952|NM_002210|1160_%7C_471|Integrin_%20_alpha_%20_subunits_%7C_CD_%20_molecules|CCDS2292_%2C__%20_CCDS46470_%2C__%20_CCDS46471|OTTHUMG00000132635|3685|193210|NM_001144999|P06756|ENSG00000138448|uc002upq.5|ITAV_HUMAN|Antithymocyte_%20_globulin(DB00098)|A0AV67_%7C_B0LPF4_%7C_B7Z883_%7C_B7ZLX0_%7C_D3DPG8_%7C_E7EWZ6_%7C_Q53SK4_%7C_Q59EB7_%7C_Q6LD15|P06756|angiogenesis_%20_(GO:0001525)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_(GO:0042590)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%2C__%20_TAP-dependent_%20_(GO:0002479)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_(GO:0002474)_%7C_apolipoprotein_%20_A-I-mediated_%20_signaling_%20_pathway_%20_(GO:0038027)_%7C_apoptotic_%20_cell_%20_clearance_%20_(GO:0043277)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_calcium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0070588)_%7C_cell_%20_adhesion_%20_(GO:0007155)_%7C_cell_%20_growth_%20_(GO:0016049)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_cell-matrix_%20_adhesion_%20_(GO:0007160)_%7C_cell-substrate_%20_adhesion_%20_(GO:0031589)_%7C_endodermal_%20_cell_%20_differentiation_%20_(GO:0035987)_%7C_entry_%20_of_%20_symbiont_%20_into_%20_host_%20_cell_%20_by_%20_promotion_%20_of_%20_host_%20_phagocytosis_%20_(GO:0052066)_%7C_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070371)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_absence_%20_of_%20_ligand_%20_(GO:0097192)_%7C_heterotypic_%20_cell-cell_%20_adhesion_%20_(GO:0034113)_%7C_integrin-mediated_%20_signaling_%20_pathway_%20_(GO:0007229)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_chemotaxis_%20_(GO:0050919)_%7C_negative_%20_regulation_%20_of_%20_entry_%20_of_%20_bacterium_%20_into_%20_host_%20_cell_%20_(GO:2000536)_%7C_negative_%20_regulation_%20_of_%20_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001237)_%7C_negative_%20_regulation_%20_of_%20_lipid_%20_storage_%20_(GO:0010888)_%7C_negative_%20_regulation_%20_of_%20_lipid_%20_transport_%20_(GO:0032369)_%7C_negative_%20_regulation_%20_of_%20_lipoprotein_%20_metabolic_%20_process_%20_(GO:0050748)_%7C_negative_%20_regulation_%20_of_%20_low-density_%20_lipoprotein_%20_particle_%20_receptor_%20_biosynthetic_%20_process_%20_(GO:0045715)_%7C_negative_%20_regulation_%20_of_%20_macrophage_%20_derived_%20_foam_%20_cell_%20_differentiation_%20_(GO:0010745)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_adhesion_%20_(GO:0045785)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_migration_%20_(GO:0030335)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_osteoblast_%20_proliferation_%20_(GO:0033690)_%7C_regulation_%20_of_%20_apoptotic_%20_cell_%20_clearance_%20_(GO:2000425)_%7C_regulation_%20_of_%20_phagocytosis_%20_(GO:0050764)_%7C_substrate_%20_adhesion-dependent_%20_cell_%20_spreading_%20_(GO:0034446)_%7C_viral_%20_entry_%20_into_%20_host_%20_cell_%20_(GO:0046718)|alphav-beta3_%20_integrin-IGF-1-IGF1R_%20_complex_%20_(GO:0035867)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_filopodium_%20_membrane_%20_(GO:0031527)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_integrin_%20_alphav-beta3_%20_complex_%20_(GO:0034683)_%7C_integrin_%20_alphav-beta5_%20_complex_%20_(GO:0034684)_%7C_integrin_%20_alphav-beta8_%20_complex_%20_(GO:0034686)_%7C_integrin_%20_complex_%20_(GO:0008305)_%7C_lamellipodium_%20_membrane_%20_(GO:0031258)_%7C_membrane_%20_(GO:0016020)_%7C_microvillus_%20_membrane_%20_(GO:0031528)_%7C_phagocytic_%20_vesicle_%20_(GO:0045335)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_ruffle_%20_membrane_%20_(GO:0032587)|extracellular_%20_matrix_%20_binding_%20_(GO:0050840)_%7C_extracellular_%20_matrix_%20_protein_%20_binding_%20_(GO:1990430)_%7C_fibronectin_%20_binding_%20_(GO:0001968)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_protease_%20_binding_%20_(GO:0002020)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_binding_%20_(GO:0050431)_%7C_virus_%20_receptor_%20_activity_%20_(GO:0001618)_%7C_voltage-gated_%20_calcium_%20_channel_%20_activity_%20_(GO:0005245)||||true|false||false|false|||false|false|false|ITGAV:3685|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|762770151|187487140|false|false|0|false|0|false||false|false|false|DIV|false|0x050000000005000402000200|1|false|144|rs762770151|] -chr2 187692863 indel.64404 T TA . PASS FUNCOTATION=[ZSWIM2|hg19|chr2|187692863|187692864|FRAME_SHIFT_INS||INS|-|-|A|g.chr2:187692863_187692864insA|ENST00000295131.2|-|9|1790|c.1749_1750insT|c.(1750-1752)agcfs|p.S584fs|0.345|TAGCTGTGCTCCAATTGACA||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471058|NM_182521.2|NP_872327.2|HGNC:30990|zinc_%20_finger_%20_SWIM-type_%20_containing_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC33890_%2C__%20_ZZZ2_%2C__%20_MEX||2q32.1|2017-11-28||2016-02-15|AK128006||151112|ENSG00000163012|16522193|NM_182521|91_%7C_90|Zinc_%20_fingers_%20_ZZ-type_%7C_Zinc_%20_fingers_%20_SWIM-type|CCDS33348|OTTHUMG00000154259|151112||NM_182521|Q8NEG5|ENSG00000163012|uc002upu.2|ZSWM2_HUMAN||B3KXV6_%7C_Q53SI3_%7C_Q57ZY3|Q8NEG5|apoptotic_%20_process_%20_(GO:0006915)_%7C_positive_%20_regulation_%20_of_%20_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_via_%20_death_%20_domain_%20_receptors_%20_(GO:1902043)_%7C_protein_%20_polyubiquitination_%20_(GO:0000209)||ligase_%20_activity_%20_(GO:0016874)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 191184475 exm253061 A G . PASS FUNCOTATION=[HIBCH|hg19|chr2|191184475|191184475|START_CODON_SNP||SNP|A|A|G|g.chr2:191184475A>G|ENST00000359678.5|-|1|297|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6633416458852868|GCGCTGCCCCATCGCCAAACA|HIBCH_ENST00000392332.3_START_CODON_SNP_p.M1T|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U66669|NM_198047.2|NP_932164.1|HGNC:4908|3-hydroxyisobutyryl-CoA_%20_hydrolase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"3-hydroxyisobutyryl-Coenzyme_%20_A_%20_hydrolase"|||2q32.2|2016-10-05||2010-04-29|U66669|3.1.2.4|26275|ENSG00000198130|8824301||||CCDS2304_%2C__%20_CCDS46475|OTTHUMG00000132673|26275|610690|NM_014362|Q6NVY1|ENSG00000198130|uc002uru.3|HIBCH_HUMAN||D3DPI4_%7C_Q53GA8_%7C_Q53GF2_%7C_Q53RF7_%7C_Q53TC6_%7C_Q92931_%7C_Q9BS94|Q6NVY1|branched-chain_%20_amino_%20_acid_%20_catabolic_%20_process_%20_(GO:0009083)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_valine_%20_catabolic_%20_process_%20_(GO:0006574)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)|3-hydroxyisobutyryl-CoA_%20_hydrolase_%20_activity_%20_(GO:0003860)||||true|false|0.5683_%2C_0.4317|false|false|1||false|true|true|HIBCH:26275|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|291466|191184475|false|false|0|true|0|false|0.490041_%2C_0.509959|false|false|false|SNV|true|0x050100000a0517053f000101|1|false|79|rs291466|] -chr2 197208381 exm254675 G A . PASS FUNCOTATION=[HECW2|hg19|chr2|197208381|197208381|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr2:197208381G>A|ENST00000409111.1|-|2|||||0.3117206982543641|AGTTACTTACGTTCCATGAAA|HECW2_ENST00000260983.3_SPLICE_SITE_p.P134S|||||||||||||||||||||||||706|biliary_tract(2)_%7C_breast(186)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(137)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||CR749424|||HGNC:29853|HECT_%2C__%20_C2_%20_and_%20_WW_%20_domain_%20_containing_%20_E3_%20_ubiquitin_%20_protein_%20_ligase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA1301_%2C__%20_NEDL2||2q32.3|2015-08-25|||AL390186||57520|ENSG00000138411|10718198_%2C__%20_12890487|NM_020760|823|C2_%20_domain_%20_containing|CCDS33354_%2C__%20_CCDS77499|OTTHUMG00000154435|57520|617245|NM_001304840|Q9P2P5|ENSG00000138411|uc002utm.2|HECW2_HUMAN||B8ZZB4_%7C_Q17RT5_%7C_Q68DF8_%7C_Q9NPS9|Q9P2P5|protein_%20_ubiquitination_%20_involved_%20_in_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0042787)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ligase_%20_activity_%20_(GO:0016874)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 202122956 exm256838 T C . PASS FUNCOTATION=[CASP8|hg19|chr2|202122956|202122956|START_CODON_SNP||SNP|T|T|C|g.chr2:202122956T>C|ENST00000358485.4|+|1|198|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.4937655860349127|AGTGAGGCCATGGAGGGAGGC|CASP8_ENST00000264275.5_INTRON/CASP8_ENST00000432109.2_INTRON/CASP8_ENST00000392258.3_INTRON/CASP8_ENST00000392259.2_INTRON/CASP8_ENST00000392266.3_INTRON/CASP8_ENST00000264274.9_INTRON/CASP8_ENST00000323492.7_FIVE_PRIME_FLANK|Melanoma(82_%3B_831_%20_1348_%20_20716_%20_36952_%20_40159)||||||||||||||||||||||||2880|NS(200)_%7C_autonomic_ganglia(109)_%7C_biliary_tract(27)_%7C_bone(27)_%7C_breast(314)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(129)_%7C_kidney(92)_%7C_large_intestine(455)_%7C_liver(70)_%7C_lung(320)_%7C_ovary(60)_%7C_pancreas(30)_%7C_prostate(270)_%7C_salivary_gland(164)_%7C_soft_tissue(61)_%7C_stomach(263)_%7C_thyroid(18)_%7C_upper_aerodigestive_tract(226)_%7C_vulva(1)|||||||X98178|NM_001080125.1|NP_001073594.1|HGNC:1509|caspase_%20_8|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"caspase_%20_8_%2C__%20_apoptosis-related_%20_cysteine_%20_protease"_%2C__%20_"caspase_%20_8_%2C__%20_apoptosis-related_%20_cysteine_%20_peptidase"|MCH5_%2C__%20_MACH_%2C__%20_FLICE_%2C__%20_Casp-8||2q33.1|2017-03-24||2015-11-12|U60520|3.4.22.61|841|ENSG00000064012|8681376_%2C__%20_8681377|NM_001228|468_%7C_1019_%7C_1340_%7C_1342|Caspases_%7C_Death_%20_effector_%20_domain_%20_containing_%7C_Ripoptosome_%7C_Death_%20_inducing_%20_signaling_%20_complex_%20_|CCDS2342_%2C__%20_CCDS2343_%2C__%20_CCDS2345_%2C__%20_CCDS42798_%2C__%20_CCDS42799|OTTHUMG00000132821|841|601763|NM_001080124|Q14790|ENSG00000064012|uc002uxt.2|CASP8_HUMAN||O14676_%7C_Q14791_%7C_Q14792_%7C_Q14793_%7C_Q14794_%7C_Q14795_%7C_Q14796_%7C_Q15780_%7C_Q15806_%7C_Q53TT5_%7C_Q8TDI1_%7C_Q8TDI2_%7C_Q8TDI3_%7C_Q8TDI4_%7C_Q8TDI5_%7C_Q96T22_%7C_Q9C0K4_%7C_Q9UQ81|Q14790|activation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_(GO:0097202)_%7C_activation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_(GO:0006919)_%7C_angiogenesis_%20_(GO:0001525)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097190)_%7C_B_%20_cell_%20_activation_%20_(GO:0042113)_%7C_cellular_%20_component_%20_disassembly_%20_involved_%20_in_%20_execution_%20_phase_%20_of_%20_apoptosis_%20_(GO:0006921)_%7C_cellular_%20_response_%20_to_%20_mechanical_%20_stimulus_%20_(GO:0071260)_%7C_cellular_%20_response_%20_to_%20_organic_%20_cyclic_%20_compound_%20_(GO:0071407)_%7C_execution_%20_phase_%20_of_%20_apoptosis_%20_(GO:0097194)_%7C_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097191)_%7C_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_via_%20_death_%20_domain_%20_receptors_%20_(GO:0008625)_%7C_heart_%20_development_%20_(GO:0007507)_%7C_hepatocyte_%20_apoptotic_%20_process_%20_(GO:0097284)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097193)_%7C_macrophage_%20_differentiation_%20_(GO:0030225)_%7C_MyD88-independent_%20_toll-like_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0002756)_%7C_natural_%20_killer_%20_cell_%20_activation_%20_(GO:0030101)_%7C_negative_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043124)_%7C_negative_%20_regulation_%20_of_%20_necroptotic_%20_process_%20_(GO:0060546)_%7C_neural_%20_tube_%20_formation_%20_(GO:0001841)_%7C_nucleotide-binding_%20_domain_%2C__%20_leucine_%20_rich_%20_repeat_%20_containing_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0035872)_%7C_nucleotide-binding_%20_oligomerization_%20_domain_%20_containing_%20_signaling_%20_pathway_%20_(GO:0070423)_%7C_positive_%20_regulation_%20_of_%20_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001238)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_positive_%20_regulation_%20_of_%20_macrophage_%20_differentiation_%20_(GO:0045651)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_insertion_%20_into_%20_mitochondrial_%20_membrane_%20_involved_%20_in_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1900740)_%7C_positive_%20_regulation_%20_of_%20_proteolysis_%20_(GO:0045862)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_proteolysis_%20_(GO:0006508)_%7C_proteolysis_%20_involved_%20_in_%20_cellular_%20_protein_%20_catabolic_%20_process_%20_(GO:0051603)_%7C_regulation_%20_of_%20_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_absence_%20_of_%20_ligand_%20_(GO:2001239)_%7C_regulation_%20_of_%20_thymocyte_%20_apoptotic_%20_process_%20_(GO:0070243)_%7C_response_%20_to_%20_antibiotic_%20_(GO:0046677)_%7C_response_%20_to_%20_cobalt_%20_ion_%20_(GO:0032025)_%7C_response_%20_to_%20_cold_%20_(GO:0009409)_%7C_response_%20_to_%20_estradiol_%20_(GO:0032355)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)_%7C_response_%20_to_%20_tumor_%20_necrosis_%20_factor_%20_(GO:0034612)_%7C_syncytiotrophoblast_%20_cell_%20_differentiation_%20_involved_%20_in_%20_labyrinthine_%20_layer_%20_development_%20_(GO:0060715)_%7C_T_%20_cell_%20_activation_%20_(GO:0042110)_%7C_toll-like_%20_receptor_%20_3_%20_signaling_%20_pathway_%20_(GO:0034138)_%7C_toll-like_%20_receptor_%20_4_%20_signaling_%20_pathway_%20_(GO:0034142)_%7C_toll-like_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0002224)_%7C_TRAIL-activated_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:0036462)_%7C_TRIF-dependent_%20_toll-like_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0035666)_%7C_viral_%20_process_%20_(GO:0016032)|CD95_%20_death-inducing_%20_signaling_%20_complex_%20_(GO:0031265)_%7C_cell_%20_body_%20_(GO:0044297)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_cytosol_%20_(GO:0005829)_%7C_death-inducing_%20_signaling_%20_complex_%20_(GO:0031264)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_mitochondrial_%20_outer_%20_membrane_%20_(GO:0005741)_%7C_mitochondrion_%20_(GO:0005739)_%7C_neuron_%20_projection_%20_(GO:0043005)_%7C_Noc1p-Noc2p_%20_complex_%20_(GO:0030690)_%7C_nucleus_%20_(GO:0005634)_%7C_ripoptosome_%20_(GO:0097342)|cysteine-type_%20_endopeptidase_%20_activity_%20_(GO:0004197)_%7C_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_(GO:0097153)_%7C_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097199)_%7C_cysteine-type_%20_peptidase_%20_activity_%20_(GO:0008234)_%7C_death_%20_effector_%20_domain_%20_binding_%20_(GO:0035877)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_scaffold_%20_protein_%20_binding_%20_(GO:0097110)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 209358383 exm261124 G T . PASS FUNCOTATION=[PTH2R|hg19|chr2|209358383|209358383|NONSTOP||SNP|G|G|T|g.chr2:209358383G>T|ENST00000272847.2|+|13|1865|c.1652G>T|c.(1651-1653)tGa>tTa|p.*551L|0.4538653366583541|GATGTTCTCTGAATGGACATT|AC019185.4_ENST00000424628.1_RNA/PTH2R_ENST00000413482.1_INTRON|||||||||||||||||||||||||501|biliary_tract(2)_%7C_breast(174)_%7C_central_nervous_system(44)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||U47124|NM_005048.3|NP_005039.1|HGNC:9609|parathyroid_%20_hormone_%20_2_%20_receptor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PTHR2|"parathyroid_%20_hormone_%20_receptor_%20_2"|||2q34|2016-10-05|2007-08-24|2007-08-24|BC036811||5746|ENSG00000144407||NM_005048|270|Parathyroid_%20_hormone_%20_receptors|CCDS2383_%2C__%20_CCDS82565|OTTHUMG00000132960|5746|601469|NM_001309516|P49190|ENSG00000144407|uc002vdb.5|PTH2R_HUMAN|Preotact(DB05829)|Q8N429|P49190|G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_plasma_%20_membrane_%20_(GO:0005886)|parathyroid_%20_hormone_%20_receptor_%20_activity_%20_(GO:0004991)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 216946463 exm263596 A G . PASS FUNCOTATION=[PECR|hg19|chr2|216946463|216946463|START_CODON_SNP||SNP|A|A|G|g.chr2:216946463A>G|ENST00000265322.7|-|1|77|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.713216957605985|CCAGGAGGCCATCCCTGCAGC|TMEM169_ENST00000295658.4_FIVE_PRIME_FLANK/TMEM169_ENST00000406027.2_FIVE_PRIME_FLANK/TMEM169_ENST00000437356.2_FIVE_PRIME_FLANK/TMEM169_ENST00000454545.1_FIVE_PRIME_FLANK/PECR_ENST00000497889.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR457145|NM_018441.5|NP_060911.2|HGNC:18281|peroxisomal_%20_trans-2-enoyl-CoA_%20_reductase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||HSA250303_%2C__%20_TERP_%2C__%20_SDR29C1|"short_%20_chain_%20_dehydrogenase/reductase_%20_family_%20_29C_%2C__%20_member_%20_1"|2q35|2014-11-19|||AF119841|1.3.1.38|55825|ENSG00000115425|10811639_%2C__%20_11669066_%2C__%20_19027726|NM_018441|743|Short_%20_chain_%20_dehydrogenase/reductase_%20_superfamily|CCDS33375|OTTHUMG00000154825|55825|605843|NM_018441|Q9BY49|ENSG00000115425|uc002vft.4|PECR_HUMAN|Adenine(DB00173)|B2RE42_%7C_Q53TC4_%7C_Q6IAK9_%7C_Q9NRD4_%7C_Q9NY60_%7C_Q9P1A4|Q9BY49|fatty_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0006633)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_phytol_%20_metabolic_%20_process_%20_(GO:0033306)|intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_mitochondrion_%20_(GO:0005739)_%7C_peroxisomal_%20_membrane_%20_(GO:0005778)_%7C_peroxisome_%20_(GO:0005777)|receptor_%20_binding_%20_(GO:0005102)_%7C_trans-2-enoyl-CoA_%20_reductase_%20_(NADPH)_%20_activity_%20_(GO:0019166)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 219029932 exm264611 C T . PASS FUNCOTATION=[CXCR1|hg19|chr2|219029932|219029932|START_CODON_SNP||SNP|C|C|T|g.chr2:219029932C>T|ENST00000295683.2|-|2|124|c.3G>A|c.(1-3)atG>atA|p.M1I|0.456359102244389|TAATATTTGACATGTCCTCTT||||||||||||||||||||||||||616|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(136)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||X65858|NM_000634.2|NP_000625.1|HGNC:6026|C-X-C_%20_motif_%20_chemokine_%20_receptor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CMKAR1_%2C__%20_IL8RA|"interleukin_%20_8_%20_receptor_%2C__%20_alpha"_%2C__%20_"chemokine_%20_(C-X-C_%20_motif)_%20_receptor_%20_1"|CKR-1_%2C__%20_CDw128a_%2C__%20_CD181||2q35|2016-03-14|2009-11-25|2016-03-14|U11870||3577|ENSG00000163464|1303245_%2C__%20_1427896|NM_000634|471_%7C_1094_%7C_602|CD_%20_molecules_%7C_C-X-C_%20_motif_%20_chemokine_%20_receptors_%7C_Interleukin_%20_receptors|CCDS2409|OTTHUMG00000133108|3577|146929|NM_000634|P25024|ENSG00000163464|uc002vhc.4|CXCR1_HUMAN|Ketoprofen(DB01009)|B2R6Q3_%7C_Q2YEF8_%7C_Q2YEG4_%7C_Q2YEG5_%7C_Q2YEG7_%7C_Q2YEG8_%7C_Q53R18_%7C_Q6IN95_%7C_Q8N6T6_%7C_Q9P2T8_%7C_Q9P2T9_%7C_Q9P2U0_%7C_Q9P2U1_%7C_Q9P2U2|P25024|cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007166)_%7C_chemokine-mediated_%20_signaling_%20_pathway_%20_(GO:0070098)_%7C_chemotaxis_%20_(GO:0006935)_%7C_dendritic_%20_cell_%20_chemotaxis_%20_(GO:0002407)_%7C_G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_interleukin-8-mediated_%20_signaling_%20_pathway_%20_(GO:0038112)_%7C_receptor_%20_internalization_%20_(GO:0031623)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|chemokine_%20_receptor_%20_activity_%20_(GO:0004950)_%7C_G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_interleukin-8_%20_binding_%20_(GO:0019959)_%7C_interleukin-8_%20_receptor_%20_activity_%20_(GO:0004918)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 220462640 exm269819 G T . PASS FUNCOTATION=[STK11IP|hg19|chr2|220462640|220462640|DE_NOVO_START_IN_FRAME||SNP|G|G|T|g.chr2:220462640G>T|ENST00000456909.1|+|1|||||0.6209476309226932|CAGACGGGGAGGTTCGGTATG|STK11IP_ENST00000295641.10_MISSENSE_p.R1M/STK11IP_ENST00000459692.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||149|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(70)_%7C_pancreas(22)|||||||AC009955|||HGNC:19184|serine/threonine_%20_kinase_%20_11_%20_interacting_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||LIP1_%2C__%20_KIAA1898_%2C__%20_LKB1IP_%2C__%20_STK11IP1|"LKB1_%20_interacting_%20_protein"|2q35|2014-11-19|||AF450267||114790|ENSG00000144589|11741830|NM_052902|||CCDS46521|OTTHUMG00000059239|114790|607172|NM_052902|Q8N1F8|ENSG00000144589|uc002vml.3|S11IP_HUMAN||Q8NAW9_%7C_Q8WXE4_%7C_Q96CN3_%7C_Q96PY9|Q8N1F8|protein_%20_localization_%20_(GO:0008104)|cytoplasm_%20_(GO:0005737)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)|protein_%20_kinase_%20_binding_%20_(GO:0019901)||||true|false|0.1667_%2C_0.8333|false|false|1||false|true|false|STK11IP:114790|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|681747|220462640|false|false|0|true|0|false|0.236589_%2C_0.763411|false|false|true|SNV|true|0x05010040000515053f000101|1|false|83|rs681747|] -chr2 225265759 indel.65842 G GT . PASS FUNCOTATION=[FAM124B|hg19|chr2|225265759|225265760|FRAME_SHIFT_INS||INS|-|-|T|g.chr2:225265759_225265760insT|ENST00000409685.3|-|1|993|c.726_727insA|c.(727-729)cttfs|p.L243fs|0.4975|ATACCTGAAGCAGAATCTTG|FAM124B_ENST00000389874.3_FRAME_SHIFT_INS_p.L243fs/FAM124B_ENST00000243806.2_FRAME_SHIFT_INS_p.L243fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471063|NM_001122779.1|NP_001116251.1|HGNC:26224|family_%20_with_%20_sequence_%20_similarity_%20_124_%20_member_%20_B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"family_%20_with_%20_sequence_%20_similarity_%20_124B"|FLJ22746||2q36.2|2017-11-28||2015-11-05|AK075126||79843|ENSG00000124019|23285124|NM_024785|||CCDS2461_%2C__%20_CCDS46527|OTTHUMG00000133168|79843||NM_001122779|Q9H5Z6|ENSG00000124019|uc002vnx.4|F124B_HUMAN||A6NNC7_%7C_Q8NBZ4_%7C_Q8TAV7|Q9H5Z6|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr2 238667455 indel.66367 G GTAA . PASS FUNCOTATION=[LRRFIP1|hg19|chr2|238667455|238667456|IN_FRAME_INS||INS|-|-|TAA|g.chr2:238667455_238667456insTAA|ENST00000308482.9|+|18|1377|c.1308_1309insTAA|c.(1309-1311)gaa>TAAgaa|p.436_437ins*|0.3775|GCTGAAAGAGGAATTAAAGG|LRRFIP1_ENST00000244815.5_INTRON/LRRFIP1_ENST00000289175.6_INTRON/LRRFIP1_ENST00000392000.4_INTRON|||||||||||||||||||||||||253|biliary_tract(2)_%7C_breast(148)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||U69609|NM_001137550.1|NP_001131022.1|HGNC:6702|LRR_%20_binding_%20_FLII_%20_interacting_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"leucine_%20_rich_%20_repeat_%20_(in_%20_FLII)_%20_interacting_%20_protein_%20_1"|FLAP-1_%2C__%20_FLIIAP1_%2C__%20_TRIP_%2C__%20_GCF-2_%2C__%20_HUFI-1|"GC-binding_%20_factor_%20_2"|2q37.3|2016-06-20||2016-06-20|AJ223075||9208|ENSG00000124831|9705290_%2C__%20_9525888_%2C__%20_16199883|NM_004735|||CCDS2521_%2C__%20_CCDS46551_%2C__%20_CCDS46552_%2C__%20_CCDS46553|OTTHUMG00000133339|9208|603256|NM_001137550|Q32MZ4|ENSG00000124831|uc002vxd.4|LRRF1_HUMAN||E9PGZ2_%7C_O75766_%7C_O75799_%7C_Q32MZ5_%7C_Q53T49_%7C_Q6PKG2_%7C_Q9Y607|Q32MZ4|innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_positive_%20_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032481)_%7C_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006357)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|DNA_%20_binding_%20_(GO:0003677)_%7C_double-stranded_%20_RNA_%20_binding_%20_(GO:0003725)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||true|false||false|false|||false|false|false|LRRFIP1:9208|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|752147133|238667455|false|false|0|false|0|false||false|false|false|DIV|false|0x050000080005000402000200|1|false|144|rs752147133|] -chr21 37948710 exm2275316 G A . PASS FUNCOTATION=[CLDN14|hg19|chr21|37948710|37948710|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr21:37948710G>A|ENST00000342108.2|-|1|||||0.4937655860349127|GCCACTCACCGTGCTGCTGTG||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC012126|NM_001146077.1|NP_001139549.1|HGNC:2035|claudin_%20_14|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DFNB29||||21q22.13|2016-10-05|||AJ132445||23562|ENSG00000159261|11163249|NM_144492|1152_%7C_488|Deafness_%20_associated_%20_genes_%7C_Claudins|CCDS13645|OTTHUMG00000086638|23562|605608|NM_001146077|O95500|ENSG00000159261|uc002yvo.2|CLD14_HUMAN|||O95500|calcium-independent_%20_cell-cell_%20_adhesion_%20_(GO:0016338)_%7C_cell_%20_junction_%20_assembly_%20_(GO:0034329)_%7C_cell-cell_%20_junction_%20_organization_%20_(GO:0045216)_%7C_protein_%20_complex_%20_assembly_%20_(GO:0006461)_%7C_tight_%20_junction_%20_assembly_%20_(GO:0070830)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_tight_%20_junction_%20_(GO:0005923)|identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr21 45987803 exm1577680 G A . PASS FUNCOTATION=[TSPEAR|hg19|chr21|45987803|45987803|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr21:45987803G>A|ENST00000397916.1|-|2|||||0.5361596009975063|TGGAGTCCCCGTGCACCGTGA|TSPEAR_ENST00000323084.4_MISSENSE_p.R57W|||||||||||||||||||||||||236|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(127)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471079|||HGNC:1268|thrombospondin_%20_type_%20_laminin_%20_G_%20_domain_%20_and_%20_EAR_%20_repeats|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C21orf29_%2C__%20_DFNB98|"chromosome_%20_21_%20_open_%20_reading_%20_frame_%20_29"_%2C__%20_"deafness_%2C__%20_autosomal_%20_recessive_%20_98"|MGC11251_%2C__%20_TSP-EAR||21q22.3|2016-05-24|2011-01-25|2016-05-24|AJ487962||54084|ENSG00000175894|12095917_%2C__%20_22678063|NM_144991|1152|Deafness_%20_associated_%20_genes|CCDS13712_%2C__%20_CCDS74801|OTTHUMG00000041215|54084|612920|NM_001272037|Q8WU66|ENSG00000175894|uc002zfe.1|TSEAR_HUMAN|||Q8WU66|sensory_%20_perception_%20_of_%20_sound_%20_(GO:0007605)|cell_%20_surface_%20_(GO:0009986)_%7C_ciliary_%20_membrane_%20_(GO:0060170)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_stereocilium_%20_(GO:0032420)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr22 24034867 exm1592938 C T . PASS FUNCOTATION=[RGL4|hg19|chr22|24034867|24034867|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr22:24034867C>T|ENST00000401461.1|+|4|||||0.5960099750623441|TCCTGCTCCACGTCCTGGGCA|RGL4_ENST00000290691.5_MISSENSE_p.R129C/AP000347.2_ENST00000417194.1_RNA/GUSBP11_ENST00000455485.1_RNA/KB-1572G7.2_ENST00000421064.1_RNA|||||||||||||||||||||||||184|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||AP000347|||HGNC:31911|ral_%20_guanine_%20_nucleotide_%20_dissociation_%20_stimulator_%20_like_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Rgr|"RalGDS_%20_related_%20_oncogene"|22q11.23|2016-03-14||2016-03-14|||266747|ENSG00000159496|9178890_%2C__%20_10851075|NM_153615|||CCDS13811|OTTHUMG00000150711|266747|612214|NM_153615|Q8IZJ4|ENSG00000159496|uc002zxn.4|RGDSR_HUMAN||Q495L8|Q8IZJ4|small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cytoplasmic_%20_vesicle_%20_(GO:0031410)|guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005085)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr22 30983274 exm1600038 G A . PASS FUNCOTATION=[PES1|hg19|chr22|30983274|30983274|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr22:30983274G>A|ENST00000405677.1|-|6|||||0.47880299251870323|CCGGCTCACCGTTCCTTGATG|PES1_ENST00000354694.7_SPLICE_SITE_p.R123W/PES1_ENST00000335214.6_SPLICE_SITE_p.R123W/PES1_ENST00000402281.1_DE_NOVO_START_OUT_FRAME/PES1_ENST00000402284.3_SPLICE_SITE_p.R123W|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471095|NM_001282328.1|NP_001269257.1|HGNC:8848|pescadillo_%20_ribosomal_%20_biogenesis_%20_factor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pescadillo_%20_(zebrafish)_%20_homolog_%20_1_%2C__%20_containing_%20_BRCT_%20_domain"_%2C__%20_"pescadillo_%20_homolog_%20_1_%2C__%20_containing_%20_BRCT_%20_domain_%20_(zebrafish)"|PES_%2C__%20_NOP7||22q12.2|2017-05-19||2012-02-23|U78310||23481|ENSG00000100029|8985183_%2C__%20_10591208_%2C__%20_17353269|NM_014303|||CCDS13880_%2C__%20_CCDS58802_%2C__%20_CCDS74842|OTTHUMG00000151077|23481|605819|NM_001243225|O00541|ENSG00000100029|uc003aij.2|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 9932407 exm288739 A G . PASS FUNCOTATION=[JAGN1|hg19|chr3|9932407|9932407|START_CODON_SNP||SNP|A|A|G|g.chr3:9932407A>G|ENST00000307768.4|+|1|170|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.7032418952618454|GGCAGGCACAATGGCGTCTCG|JAGN1_ENST00000489724.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471055|NM_032492.3|NP_115881.3|HGNC:26926|jagunal_%20_homolog_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"jagunal_%20_homolog_%20_1_%20_(Drosophila)"|GL009_%2C__%20_FLJ14602||3p25.3|2016-10-05||2015-06-09|AK074760||84522|ENSG00000171135|25129144|NM_032492|||CCDS2588|OTTHUMG00000128523|84522|616012|NM_032492|Q8N5M9|ENSG00000171135|uc003btt.5|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 11643465 exm290624 T C . PASS FUNCOTATION=[VGLL4|hg19|chr3|11643465|11643465|DE_NOVO_START_IN_FRAME||SNP|T|T|C|g.chr3:11643465T>C|ENST00000413604.1|-|2|||||0.5760598503740648|GCAGGGTCTGTATTCTGGGTT|VGLL4_ENST00000430365.2_MISSENSE_p.I38M/VGLL4_ENST00000273038.3_MISSENSE_p.I32M/VGLL4_ENST00000404339.1_MISSENSE_p.I37M|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||DQ384470|NM_001284391.1|NP_001271320.1|HGNC:28966|vestigial_%20_like_%20_family_%20_member_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"vestigial_%20_like_%20_4_%20_(Drosophila)"_%2C__%20_"vestigial-like_%20_family_%20_member_%20_4"|KIAA0121||3p25.3-p25.2|2017-06-08||2015-11-23|D50911||9686|ENSG00000144560|8590280_%2C__%20_15140898|NM_014667|367|Vestigial_%20_like_%20_family|CCDS2606_%2C__%20_CCDS46754_%2C__%20_CCDS46755_%2C__%20_CCDS46756_%2C__%20_CCDS68342_%2C__%20_CCDS68343|OTTHUMG00000129739|9686||NM_001128219|Q14135|ENSG00000144560|uc010hdx.3|VGLL4_HUMAN||B4DTS7_%7C_J3KN68_%7C_Q7L5V0_%7C_Q9BQ78|Q14135|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 15643175 rs2279841 G A . PASS FUNCOTATION=[HACL1|hg19|chr3|15643175|15643175|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr3:15643175G>A|ENST00000321169.5|-|1|||||0.5685785536159601|AAACACGCGCGTTCTCCAATC|BTD_ENST00000449107.1_FIVE_PRIME_UTR/BTD_ENST00000303498.5_FIVE_PRIME_FLANK/BTD_ENST00000383778.4_FIVE_PRIME_FLANK/HACL1_ENST00000435217.2_FIVE_PRIME_FLANK/BTD_ENST00000437172.1_FIVE_PRIME_FLANK/HACL1_ENST00000451445.2_FIVE_PRIME_FLANK/HACL1_ENST00000456194.2_FIVE_PRIME_FLANK/HACL1_ENST00000457447.2_FIVE_PRIME_FLANK|||||||||||||||||||||||HACL1{ENST00000321169}:r.1_2072_RAF1{ENST00000251849}:r.1275_3620(1)_%7C_HACL1{ENST00000321169}:r.1_2072_RAF1{ENST00000251849}:r.1275_3300(1)||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(33)|||||||BC001627|NM_012260.2|NP_036392.2|HGNC:17856|2-hydroxyacyl-CoA_%20_lyase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HPCL|"2-hydroxyphytanoyl-CoA_%20_lyase"|2-HPCL_%2C__%20_PHYH2||3p25.1|2016-10-05|2006-05-16|2006-05-16|AJ131753|4.1.-.-|26061|ENSG00000131373|10468558_%2C__%20_15644336|NM_012260|||CCDS2627_%2C__%20_CCDS68360_%2C__%20_CCDS68361_%2C__%20_CCDS68362|OTTHUMG00000129862|26061|604300|NM_001284413|Q9UJ83|ENSG00000131373|uc062hdf.1|HACL1_HUMAN||B4DWI1_%7C_B4DXI5_%7C_E9PEN4_%7C_Q9BV42_%7C_Q9P0A2|Q9UJ83|cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_fatty_%20_acid_%20_alpha-oxidation_%20_(GO:0001561)_%7C_protein_%20_oligomerization_%20_(GO:0051259)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|peroxisomal_%20_matrix_%20_(GO:0005782)_%7C_peroxisome_%20_(GO:0005777)|carbon-carbon_%20_lyase_%20_activity_%20_(GO:0016830)_%7C_cofactor_%20_binding_%20_(GO:0048037)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_magnesium_%20_ion_%20_binding_%20_(GO:0000287)_%7C_receptor_%20_binding_%20_(GO:0005102)_%7C_thiamine_%20_pyrophosphate_%20_binding_%20_(GO:0030976)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 17131402 exm294647 T G . PASS FUNCOTATION=[PLCL2|hg19|chr3|17131402|17131402|NONSTOP||SNP|T|T|G|g.chr3:17131402T>G|ENST00000418129.2|+|6|3469|c.3004T>G|c.(3004-3006)Tga>Gga|p.*1002G|0.38154613466334164|AACTGGAGAATGAGGAAACTT|PLCL2_ENST00000432376.1_NONSTOP_p.*1002G|||||||||||||||||||||||||185|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(2)|||||||BC036392|NM_001144382.1|NP_001137854.1|HGNC:9064|phospholipase_%20_C_%20_like_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PLCE2|"phospholipase_%20_C_%2C__%20_epsilon_%20_2"_%2C__%20_"phospholipase_%20_C-like_%20_2"|KIAA1092||3p24.3|2015-11-17|2002-02-22|2015-11-17|AB029015||23228|ENSG00000154822|10470851||832|C2_%20_domain_%20_containing_%20_phospholipases|CCDS33713_%2C__%20_CCDS74911|OTTHUMG00000155467|23228|614276|NM_001144382|Q9UPR0|ENSG00000154822|uc011awd.3|PLCL2_HUMAN||A8K5V4_%7C_Q8N498_%7C_Q9H8L0_%7C_Q9UFP9|Q9UPR0|B_%20_cell_%20_proliferation_%20_involved_%20_in_%20_immune_%20_response_%20_(GO:0002322)_%7C_B-1a_%20_B_%20_cell_%20_differentiation_%20_(GO:0002337)_%7C_gamma-aminobutyric_%20_acid_%20_signaling_%20_pathway_%20_(GO:0007214)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_lipid_%20_metabolic_%20_process_%20_(GO:0006629)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050859)_%7C_positive_%20_regulation_%20_of_%20_receptor_%20_binding_%20_(GO:1900122)_%7C_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033135)_%7C_regulation_%20_of_%20_synaptic_%20_transmission_%2C__%20_GABAergic_%20_(GO:0032228)|cytoplasm_%20_(GO:0005737)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_GABA_%20_receptor_%20_binding_%20_(GO:0050811)_%7C_phosphatidylinositol_%20_phospholipase_%20_C_%20_activity_%20_(GO:0004435)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 25835983 exm295920 T C . PASS FUNCOTATION=[OXSM|hg19|chr3|25835983|25835983|NONSTOP||SNP|T|T|C|g.chr3:25835983T>C|ENST00000280701.3|+|3|1477|c.1378T>C|c.(1378-1380)Tag>Cag|p.*460Q|0.3491271820448878|TGCTGGACTGTAGAACATATA|OXSM_ENST00000420173.2_NONSTOP_p.*377Q/NGLY1_ENST00000417874.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||132|biliary_tract(2)_%7C_breast(49)_%7C_central_nervous_system(22)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471055|NM_017897.2|NP_060367.1|HGNC:26063|3-oxoacyl-ACP_%20_synthase_%2C__%20_mitochondrial|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KS_%2C__%20_FLJ20604_%2C__%20_FASN2D_%2C__%20_CEM1|"beta-ketoacyl_%20_synthase"|3p24.2|2017-02-02|||BC008202|2.3.1.41|54995|ENSG00000151093|12477932|NM_017897|||CCDS2643_%2C__%20_CCDS46780|OTTHUMG00000130477|54995|610324|NM_001145391|Q9NWU1|ENSG00000151093|uc003cdn.4|OXSM_HUMAN|||Q9NWU1|acyl-CoA_%20_metabolic_%20_process_%20_(GO:0006637)_%7C_medium-chain_%20_fatty_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0051792)_%7C_short-chain_%20_fatty_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0051790)|mitochondrion_%20_(GO:0005739)|3-oxoacyl-[acyl-carrier-protein]_%20_synthase_%20_activity_%20_(GO:0004315)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 27418257 exm296156 A G . PASS FUNCOTATION=[SLC4A7|hg19|chr3|27418257|27418257|NONSTOP||SNP|A|A|G|g.chr3:27418257A>G|ENST00000435667.2|-|25|3627|c.3406T>C|c.(3406-3408)Tag>Cag|p.*1136Q|0.29925187032418954|GTTCAATTCTATAATGAAGTT|SLC4A7_ENST00000455077.1_NONSTOP_p.*1132Q/SLC4A7_ENST00000295736.5_NONSTOP_p.*1215Q/SLC4A7_ENST00000428386.1_NONSTOP_p.*1091Q/SLC4A7_ENST00000454389.1_NONSTOP_p.*1260Q/SLC4A7_ENST00000440156.1_NONSTOP_p.*1247Q/SLC4A7_ENST00000445684.1_NONSTOP_p.*1211Q/SLC4A7_ENST00000446700.1_NONSTOP_p.*1207Q/SLC4A7_ENST00000437179.1_NONSTOP_p.*1096Q/SLC4A7_ENST00000388777.4_NONSTOP_p.*801Q/SLC4A7_ENST00000425128.2_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||GU354310|||HGNC:11033|solute_%20_carrier_%20_family_%20_4_%20_member_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SLC4A6|"solute_%20_carrier_%20_family_%20_4_%2C__%20_sodium_%20_bicarbonate_%20_cotransporter_%2C__%20_member_%20_7"|NBC3_%2C__%20_SBC2||3p24.1|2016-02-17||2016-02-17|AB012130||9497|ENSG00000033867|10198178_%2C__%20_9610397|NM_003615|752|Solute_%20_carriers|CCDS33721_%2C__%20_CCDS58819_%2C__%20_CCDS58820_%2C__%20_CCDS82747_%2C__%20_CCDS82748_%2C__%20_CCDS82749_%2C__%20_CCDS82750_%2C__%20_CCDS82751|OTTHUMG00000155679|9497|603353|NM_001258379|Q9Y6M7|ENSG00000033867|uc011axa.4|S4A7_HUMAN|Sodium_%20_bicarbonate(DB01390)|A6NIA8_%7C_B2CI53_%7C_B5M449_%7C_B5M451_%7C_B5M452_%7C_B5M453_%7C_B6DY52_%7C_B6DY53_%7C_C9JST9_%7C_D3K174_%7C_D3K175_%7C_O60350_%7C_Q6AHZ9_%7C_Q9HC88_%7C_Q9UIB9|Q9Y6M7|auditory_%20_receptor_%20_cell_%20_development_%20_(GO:0060117)_%7C_bicarbonate_%20_transport_%20_(GO:0015701)_%7C_cochlear_%20_nucleus_%20_development_%20_(GO:0021747)_%7C_ion_%20_transport_%20_(GO:0006811)_%7C_retina_%20_vasculature_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0061299)_%7C_retinal_%20_cell_%20_programmed_%20_cell_%20_death_%20_(GO:0046666)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_cell_%20_projection_%20_(GO:0042995)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|inorganic_%20_anion_%20_exchanger_%20_activity_%20_(GO:0005452)_%7C_sodium:bicarbonate_%20_symporter_%20_activity_%20_(GO:0008510)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 36756821 exm298344 A C . PASS FUNCOTATION=[DCLK3|hg19|chr3|36756821|36756821|NONSTOP||SNP|A|A|C|g.chr3:36756821A>C|ENST00000416516.2|-|5|2436|c.1945T>G|c.(1945-1947)Tag>Gag|p.*649E|0.4488778054862843|GGTGGTGACTATGATACCTGC||||||||||||||||||||||||||859|biliary_tract(2)_%7C_breast(72)_%7C_central_nervous_system(60)_%7C_haematopoietic_and_lymphoid_tissue(54)_%7C_kidney(134)_%7C_large_intestine(243)_%7C_lung(153)_%7C_ovary(52)_%7C_pancreas(22)_%7C_stomach(54)_%7C_testis(13)|||||||DA523113|NM_033403.1|NP_208382.1|HGNC:19005|doublecortin_%20_like_%20_kinase_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DCAMKL3|"doublecortin_%20_and_%20_CaM_%20_kinase-like_%20_3"_%2C__%20_"doublecortin-like_%20_kinase_%20_3"|KIAA1765_%2C__%20_DCDC3C||3p22.2|2016-10-05|2007-04-02|2015-11-30|AB051552||85443|ENSG00000163673|11214970_%2C__%20_16869982|XM_047355|1369|Doublecortin_%20_superfamily|CCDS43064|OTTHUMG00000155805|85443|613167|NM_033403|Q9C098|ENSG00000163673|uc003cgi.2|DCLK3_HUMAN|||Q9C098||cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 37458758 exm299371 A C . PASS FUNCOTATION=[C3orf35|hg19|chr3|37458758|37458758|START_CODON_SNP||SNP|A|A|C|g.chr3:37458758A>C|ENST00000328376.5|+|5|980|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.43640897755610975|CTGAATCCACATGAAAACAAT|C3orf35_ENST00000426078.1_START_CODON_SNP_p.M1L/C3orf35_ENST00000425932.1_START_CODON_SNP_p.M1L/C3orf35_ENST00000425564.2_START_CODON_SNP_p.M1L/C3orf35_ENST00000452017.2_START_CODON_SNP_p.M1L/C3orf35_ENST00000481400.1_INTRON|||||||||||||||||||||||||112|biliary_tract(2)_%7C_breast(22)_%7C_central_nervous_system(44)_%7C_large_intestine(22)_%7C_pancreas(22)|||||||BC144377|NM_178339.2|NP_848029.2|HGNC:24082|chromosome_%20_3_%20_open_%20_reading_%20_frame_%20_35|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||APRG1|"AP20_%20_region_%20_protein"_%2C__%20_"APRG1_%20_tumor_%20_suppressor_%20_candidate"|3p22.2|2017-01-27|||AJ493599||339883|ENSG00000198590|12543795|NM_178338||||OTTHUMG00000155923|339883|611429|NM_001302831|Q8IVJ8|ENSG00000198590|uc062ida.1|APRG1_HUMAN||B7ZMA0_%7C_Q8IVJ5_%7C_Q8IVJ9|Q8IVJ8||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 46450604 exm307756 A C . PASS FUNCOTATION=[CCRL2|hg19|chr3|46450604|46450604|NONSTOP||SNP|A|A|C|g.chr3:46450604A>C|ENST00000399036.3|+|2|1386|c.1034A>C|c.(1033-1035)tAa>tCa|p.*345S|0.4538653366583541|ACCGAAGTGTAAACTAGCATC|CCRL2_ENST00000400882.2_NONSTOP_p.*345S/CCRL2_ENST00000400880.3_NONSTOP_p.*345S/CCRL2_ENST00000357392.4_NONSTOP_p.*357S/CCRL2_ENST00000441909.1_FIVE_PRIME_FLANK/RP11-24F11.2_ENST00000451485.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||525|breast(174)_%7C_kidney(92)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(8)_%7C_prostate(58)|||||||U97123|NM_003965.4|NP_003956.2|HGNC:1612|C-C_%20_motif_%20_chemokine_%20_receptor_%20_like_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"chemokine_%20_(C-C_%20_motif)_%20_receptor-like_%20_2"|HCR_%2C__%20_CRAM-B_%2C__%20_CKRX_%2C__%20_CRAM-A_%2C__%20_ACKR5|"atypical_%20_chemokine_%20_receptor_%20_5"|3p21.31|2016-10-05|2013-07-18|2016-03-14|AF014958||9034|ENSG00000121797|9473515||1090|Atypical_%20_chemokine_%20_receptors|CCDS43079_%2C__%20_CCDS46814|OTTHUMG00000156318|9034|608379|NM_001130910|O00421|ENSG00000121797|uc003cpp.5|CCRL2_HUMAN||B4DKQ8_%7C_O75307_%7C_Q4VBB0_%7C_Q6IPX0_%7C_Q7KYQ9_%7C_Q96KP5_%7C_Q9UPG0|O00421|chemokine-mediated_%20_signaling_%20_pathway_%20_(GO:0070098)_%7C_chemotaxis_%20_(GO:0006935)_%7C_G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)_%7C_inflammatory_%20_response_%20_(GO:0006954)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_plasma_%20_membrane_%20_(GO:0005886)|CCR_%20_chemokine_%20_receptor_%20_binding_%20_(GO:0048020)_%7C_chemokine_%20_receptor_%20_activity_%20_(GO:0004950)_%7C_chemokine_%20_receptor_%20_binding_%20_(GO:0042379)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 48369830 exm310825 A G . PASS FUNCOTATION=[SPINK8|hg19|chr3|48369830|48369830|START_CODON_SNP||SNP|A|A|G|g.chr3:48369830A>G|ENST00000434006.1|-|1|2|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.3865336658354115|GATCCCCTTCATGGTGACAGA||||||||||||||||||||||||||||||||||AW467501|NM_001080525.1|NP_001073994.1|HGNC:33160|serine_%20_peptidase_%20_inhibitor_%2C__%20_Kazal_%20_type_%20_8_%20_(putative)|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||3p21.31|2014-11-19|||||646424|ENSG00000229453|16930550|NM_001080525|740|Serine_%20_peptidase_%20_inhibitors_%2C__%20_Kazal_%20_type|CCDS46822|OTTHUMG00000156832|646424||NM_001080525|P0C7L1|ENSG00000229453|uc003csq.2|ISK8_HUMAN|||P0C7L1||extracellular_%20_region_%20_(GO:0005576)|serine-type_%20_endopeptidase_%20_inhibitor_%20_activity_%20_(GO:0004867)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 48506471 exm311380 C T . PASS FUNCOTATION=[TREX1|hg19|chr3|48506471|48506471|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr3:48506471C>T|ENST00000296443.9|+|1|||||0.5985037406483791|CCTGATGTGACGGACTGTGAA|ATRIP_ENST00000320211.3_MISSENSE_p.T766M/ATRIP_ENST00000412052.1_MISSENSE_p.T673M/ATRIP_ENST00000346691.4_MISSENSE_p.T739M/ATRIP_ENST00000357105.6_MISSENSE_p.T639M/TREX1_ENST00000422277.2_FIVE_PRIME_FLANK/TREX1_ENST00000433541.1_FIVE_PRIME_FLANK/TREX1_ENST00000436480.2_FIVE_PRIME_FLANK/TREX1_ENST00000444177.1_FIVE_PRIME_FLANK/TREX1_ENST00000456089.1_FIVE_PRIME_FLANK/TREX1_ENST00000492235.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471055|||HGNC:12269|three_%20_prime_%20_repair_%20_exonuclease_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AGS1|"Aicardi-Goutieres_%20_syndrome_%20_1"|DRN3||3p21.31|2017-03-24|||AF151105||11277|ENSG00000213689|10391904_%2C__%20_10393201_%2C__%20_16845398|NM_016381|544|Exonucleases|CCDS2769_%2C__%20_CCDS59451_%2C__%20_CCDS43086|OTTHUMG00000156205|11277|606609|NM_007248|Q9NSU2|ENSG00000213689|uc062jhw.1|TREX1_HUMAN||B2RCN9_%7C_Q8TEU2_%7C_Q9BPW1_%7C_Q9Y4X2|Q9NSU2|cell_%20_death_%20_(GO:0008219)_%7C_cellular_%20_response_%20_to_%20_interferon-beta_%20_(GO:0035458)_%7C_DNA_%20_catabolic_%20_process_%2C__%20_exonucleolytic_%20_(GO:0000738)_%7C_DNA_%20_metabolic_%20_process_%20_(GO:0006259)_%7C_DNA_%20_recombination_%20_(GO:0006310)_%7C_DNA_%20_repair_%20_(GO:0006281)_%7C_DNA_%20_replication_%20_(GO:0006260)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_mismatch_%20_repair_%20_(GO:0006298)_%7C_nucleic_%20_acid_%20_phosphodiester_%20_bond_%20_hydrolysis_%20_(GO:0090305)_%7C_positive_%20_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032481)_%7C_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032479)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)|3'-5'_%20_exonuclease_%20_activity_%20_(GO:0008408)_%7C_3'-5'-exodeoxyribonuclease_%20_activity_%20_(GO:0008296)_%7C_adenyl_%20_deoxyribonucleotide_%20_binding_%20_(GO:0032558)_%7C_double-stranded_%20_DNA_%20_binding_%20_(GO:0003690)_%7C_exodeoxyribonuclease_%20_III_%20_activity_%20_(GO:0008853)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_MutLalpha_%20_complex_%20_binding_%20_(GO:0032405)_%7C_MutSalpha_%20_complex_%20_binding_%20_(GO:0032407)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_single-stranded_%20_DNA_%20_binding_%20_(GO:0003697)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 49053682 indel.74958 A AT . PASS FUNCOTATION=[DALRD3|hg19|chr3|49053682|49053683|FRAME_SHIFT_INS||INS|-|-|T|g.chr3:49053682_49053683insT|ENST00000440857.1|-|10|1440|c.736_737insA|c.(736-738)ctcfs|p.L246fs|0.5525|CTCTCAAAGAGTGTGGCAAG|DALRD3_ENST00000341949.4_FRAME_SHIFT_INS_p.L413fs/DALRD3_ENST00000313778.5_FRAME_SHIFT_INS_p.L246fs/DALRD3_ENST00000441576.2_FRAME_SHIFT_INS_p.L413fs/DALRD3_ENST00000395462.4_FRAME_SHIFT_INS_p.L246fs/NDUFAF3_ENST00000326912.4_FIVE_PRIME_FLANK/NDUFAF3_ENST00000326925.6_FIVE_PRIME_FLANK/NDUFAF3_ENST00000395458.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||AC137630|||HGNC:25536|DALR_%20_anticodon_%20_binding_%20_domain_%20_containing_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10496||3p21.31|2014-11-19|||BC014099||55152|ENSG00000178149|12477932|NM_018114|||CCDS2783_%2C__%20_CCDS33754_%2C__%20_CCDS63632|OTTHUMG00000156748|55152||NM_001009996|Q5D0E6|ENSG00000178149|uc003cvm.4|DALD3_HUMAN||Q7Z5S7_%7C_Q86WY1_%7C_Q8N105_%7C_Q8NA89_%7C_Q9NVU8|Q5D0E6|arginyl-tRNA_%20_aminoacylation_%20_(GO:0006420)||arginine-tRNA_%20_ligase_%20_activity_%20_(GO:0004814)_%7C_ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 51928908 exm319305 A G . PASS FUNCOTATION=[IQCF1|hg19|chr3|51928908|51928908|NONSTOP||SNP|A|A|G|g.chr3:51928908A>G|ENST00000310914.5|-|4|679|c.616T>C|c.(616-618)Tga>Cga|p.*206R|0.5187032418952618|AGACCACTTCATTCCTTTATT||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC034228|NM_152397.2|NP_689610.2|HGNC:28607|IQ_%20_motif_%20_containing_%20_F1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC39725||3p21.2|2016-10-05|||BC029595||132141|ENSG00000173389|12477932|NM_152397|||CCDS2836|OTTHUMG00000156908|132141||NM_152397|Q8N6M8|ENSG00000173389|uc003dbv.4|IQCF1_HUMAN||Q8N711|Q8N6M8|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 57310755 indel.75748 T TA . PASS FUNCOTATION=[ASB14|hg19|chr3|57310755|57310756|SPLICE_SITE|FRAME_SHIFT_INS|INS|-|-|A|g.chr3:57310755_57310756insA|ENST00000487349.1|-|10|1708|c.1586_1587insT|c.(1585-1587)acafs|p.N530fs|0.3725|GCGAGGGTTTGCTAAAAAGA|ASB14_ENST00000389601.3_SPLICE_SITE_p.N530fs|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||AL832472|NM_130387.5|NP_569058.1|HGNC:19766|ankyrin_%20_repeat_%20_and_%20_SOCS_%20_box_%20_containing_%20_14|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ankyrin_%20_repeat_%20_and_%20_SOCS_%20_box-containing_%20_14"|DKFZp313L0121||3p14.3|2016-10-05||2011-01-25|AF403032||142686|ENSG00000239388|12076535||403|Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS46856|OTTHUMG00000158602|142686||NM_001142733|A6NK59|ENSG00000239388|uc062kwt.1|ASB14_HUMAN||C9JX97_%7C_Q8WXK2_%7C_Q92816|A6NK59|intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 67053976 indel.75928 A AT . PASS FUNCOTATION=[KBTBD8|hg19|chr3|67053976|67053977|FRAME_SHIFT_INS||INS|-|-|T|g.chr3:67053976_67053977insT|ENST00000417314.2|+|3|634|c.585_586insT|c.(586-588)ctgfs|p.L196fs|0.3825|AAAAGACCAACTGATAAGTA|KBTBD8_ENST00000460576.1_INTRON/KBTBD8_ENST00000295568.4_FRAME_SHIFT_INS_p.L170fs/KBTBD8_ENST00000469661.1_INTRON|||||||||||||||||||||||||585|biliary_tract(2)_%7C_breast(222)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_lung(134)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||BC117487|||HGNC:30691|kelch_%20_repeat_%20_and_%20_BTB_%20_domain_%20_containing_%20_8|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch_%20_repeat_%20_and_%20_BTB_%20_(POZ)_%20_domain_%20_containing_%20_8"|TA-KRP_%2C__%20_KIAA1842|"T-cell_%20_activation_%20_kelch_%20_repeat_%20_protein"|3p14.1|2016-10-05||2016-02-12|AF385438||84541|ENSG00000163376|11347906|NM_032505|861|BTB_%20_domain_%20_containing|CCDS2906|OTTHUMG00000158779|84541|616607|NM_032505|Q8NFY9|ENSG00000163376|uc003dmy.4|KBTB8_HUMAN||B4DTW6_%7C_Q96JI5|Q8NFY9||cytoskeleton_%20_(GO:0005856)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 97806944 exm332468 T C . PASS FUNCOTATION=[OR5AC2|hg19|chr3|97806944|97806944|NONSTOP||SNP|T|T|C|g.chr3:97806944T>C|ENST00000358642.2|+|1|928|c.928T>C|c.(928-930)Taa>Caa|p.*310Q|0.4114713216957606|TATAAGGAAGTAAACAGTTCC||||||||||||||||||||||||||68|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AF179759|NM_054106.1|NP_473447.1|HGNC:15431|olfactory_%20_receptor_%20_family_%20_5_%20_subfamily_%20_AC_%20_member_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"olfactory_%20_receptor_%2C__%20_family_%20_5_%2C__%20_subfamily_%20_AC_%2C__%20_member_%20_2"|HSA1||3q11.2|2015-12-09||2015-12-09|AF179759||81050|ENSG00000196578|||152|Olfactory_%20_receptors_%2C__%20_family_%20_5|CCDS33796|OTTHUMG00000160083|81050||NM_054106|Q9NZP5|ENSG00000196578|uc011bgs.2|O5AC2_HUMAN|||Q9NZP5|detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_smell_%20_(GO:0050911)_%7C_sensory_%20_perception_%20_of_%20_smell_%20_(GO:0007608)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 97869139 indel.76151 A AC . PASS FUNCOTATION=[OR5H14|hg19|chr3|97869139|97869140|FRAME_SHIFT_INS||INS|-|-|C|g.chr3:97869139_97869140insC|ENST00000437310.1|+|1|970|c.910_911insC|c.(910-912)atgfs|p.M304fs|0.345|TTCACAAAAATGTTCAAAAG|RP11-343D2.11_ENST00000508964.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC136984|NM_001005514.1|NP_001005514.1|HGNC:31286|olfactory_%20_receptor_%20_family_%20_5_%20_subfamily_%20_H_%20_member_%20_14|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"olfactory_%20_receptor_%2C__%20_family_%20_5_%2C__%20_subfamily_%20_H_%2C__%20_member_%20_14"|||3q11.2|2015-12-09||2015-12-09|||403273|ENSG00000236032|||152|Olfactory_%20_receptors_%2C__%20_family_%20_5|CCDS33798|OTTHUMG00000160079|403273||NM_001005514|A6NHG9|ENSG00000236032|uc003dsg.2|O5H14_HUMAN||B9EH15|A6NHG9||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 100354621 exm333947 C T . PASS FUNCOTATION=[GPR128|hg19|chr3|100354621|100354621|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr3:100354621C>T|ENST00000475887.1|+|1|||||0.371571072319202|ACTAGTGCTACGCGAGTGGTT|GPR128_ENST00000273352.3_MISSENSE_p.T183M|Pancreas(87_%3B_185_%20_1975_%20_7223_%20_18722)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AK172774||||||||||||||||||||||||||||||||GP128_HUMAN||Q14D94_%7C_Q86SQ2|Q96K78|G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)_%7C_neuropeptide_%20_signaling_%20_pathway_%20_(GO:0007218)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 100712249 exm334232 T C . PASS FUNCOTATION=[ABI3BP|hg19|chr3|100712249|100712249|START_CODON_SNP||SNP|T|T|C|g.chr3:100712249T>C|ENST00000471714.1|-|1|111|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.4389027431421446|CCACCTCGCATGGGGAATGAT|ABI3BP_ENST00000284322.5_START_CODON_SNP_p.M1V/ABI3BP_ENST00000495063.1_START_CODON_SNP_p.M1V|||||||||||||||||||||||||135|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(44)_%7C_large_intestine(35)_%7C_pancreas(22)|||||||AC106721|||HGNC:17265|ABI_%20_family_%20_member_%20_3_%20_binding_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ABI_%20_family_%2C__%20_member_%20_3_%20_(NESH)_%20_binding_%20_protein"|NESHBP_%2C__%20_DKFZP586L2024_%2C__%20_TARSH|"target_%20_of_%20_Nesh-SH3"|3q12.2|2015-11-17||2015-11-17|AB056106||25890|ENSG00000154175|11501947||555|Fibronectin_%20_type_%20_III_%20_domain_%20_containing|CCDS46880|OTTHUMG00000159094|25890|606279|NM_015429|Q7Z7G0|ENSG00000154175|uc003dun.4|TARSH_HUMAN||B3KSL4_%7C_Q6ZW20_%7C_Q6ZW22_%7C_Q9C082_%7C_Q9UFI6|Q7Z7G0|extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_positive_%20_regulation_%20_of_%20_cell-substrate_%20_adhesion_%20_(GO:0010811)|extracellular_%20_space_%20_(GO:0005615)_%7C_interstitial_%20_matrix_%20_(GO:0005614)|heparin_%20_binding_%20_(GO:0008201)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 107941167 exm335539 C A . PASS FUNCOTATION=[IFT57|hg19|chr3|107941167|107941167|START_CODON_SNP||SNP|C|C|A|g.chr3:107941167C>A|ENST00000264538.3|-|1|251|c.3G>T|c.(1-3)atG>atT|p.M1I|0.6408977556109726|GAGCAGCAGTCATCGCAGAAC||||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR457251|NM_018010.3|NP_060480.1|HGNC:17367|intraflagellar_%20_transport_%20_57|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ESRRBL1|"estrogen-related_%20_receptor_%20_beta_%20_like_%20_1"_%2C__%20_"intraflagellar_%20_transport_%20_57_%20_homolog_%20_(Chlamydomonas)"|FLJ10147_%2C__%20_HIPPI_%2C__%20_MHS4R2||3q13.12-q13.13|2017-06-08|2005-11-02|2014-07-03|AK001009||55081|ENSG00000114446||NM_018010|615|Intraflagellar_%20_transport_%20_proteins|CCDS2951|OTTHUMG00000159223|55081|606621|NM_018010|Q9NWB7|ENSG00000114446|uc003dwx.4|IFT57_HUMAN||Q96DA9|Q9NWB7|activation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_(GO:0006919)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_cilium_%20_assembly_%20_(GO:0042384)_%7C_heart_%20_looping_%20_(GO:0001947)_%7C_intraciliary_%20_transport_%20_(GO:0042073)_%7C_left/right_%20_pattern_%20_formation_%20_(GO:0060972)_%7C_negative_%20_regulation_%20_of_%20_epithelial_%20_cell_%20_proliferation_%20_(GO:0050680)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_smoothened_%20_signaling_%20_pathway_%20_(GO:0007224)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|centrosome_%20_(GO:0005813)_%7C_ciliary_%20_basal_%20_body_%20_(GO:0036064)_%7C_cilium_%20_(GO:0005929)_%7C_dendrite_%20_terminus_%20_(GO:0044292)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_intraciliary_%20_transport_%20_particle_%20_B_%20_(GO:0030992)_%7C_photoreceptor_%20_connecting_%20_cilium_%20_(GO:0032391)|DNA_%20_binding_%20_(GO:0003677)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 111261097 exm336575 T C . PASS FUNCOTATION=[CD96|hg19|chr3|111261097|111261097|START_CODON_SNP||SNP|T|T|C|g.chr3:111261097T>C|ENST00000352690.4|+|1|242|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.4339152119700748|CAGAAGACAATGGAGAAAAAA|CD96_ENST00000283285.5_START_CODON_SNP_p.M1T/CD96_ENST00000438817.2_START_CODON_SNP_p.M1T|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)||||Opitz_%20_Trigonocephaly_%20_syndrome|C_%20_syndrome_%2C__%20_Trigonocephaly_%20_syndrome|Familial_%20_Cancer_%20_Database|M88282|NM_005816.4|NP_005807.1|HGNC:16892|CD96_%20_molecule|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"CD96_%20_antigen"|TACTILE||3q13.13-q13.2|2017-06-08||2006-03-28|M88282||10225|ENSG00000153283|1313846||594_%7C_471_%7C_1410|Immunoglobulin_%20_like_%20_domain_%20_containing_%7C_CD_%20_molecules_%7C_Ig-like_%20_cell_%20_adhesion_%20_molecule_%20_family|CCDS2958_%2C__%20_CCDS2959_%2C__%20_CCDS82817|OTTHUMG00000159275|10225|606037|NM_001318889|P40200|ENSG00000153283|uc003dxw.4|TACT_HUMAN||Q5JPB3|P40200|cell_%20_adhesion_%20_(GO:0007155)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_regulation_%20_of_%20_immune_%20_response_%20_(GO:0050776)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 118955888 rs3806698 G A . PASS FUNCOTATION=[B4GALT4|hg19|chr3|118955888|118955888|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr3:118955888G>A|ENST00000483209.1|-|2|||||0.4713216957605985|GGCAAGAGCCGTGGAAATCCA|B4GALT4_ENST00000393765.2_DE_NOVO_START_OUT_FRAME/B4GALT4_ENST00000359213.3_DE_NOVO_START_OUT_FRAME/B4GALT4_ENST00000467604.1_DE_NOVO_START_OUT_FRAME/B4GALT4-AS1_ENST00000470790.1_RNA/B4GALT4_ENST00000460321.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||FJ525878|||HGNC:927|beta-1_%2C_4-galactosyltransferase_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"UDP-Gal:betaGlcNAc_%20_beta_%20_1_%2C_4-_%20_galactosyltransferase_%2C__%20_polypeptide_%20_4"|beta4Gal-T4||3q13.32|2016-10-05||2016-03-15|AF022367|2.4.1.275|8702|ENSG00000121578|9597550_%2C__%20_9792633|NM_003778|425|Beta_%20_4-glycosyltransferases|CCDS2986|OTTHUMG00000159358|8702|604015|NM_003778|O60513|ENSG00000121578|uc003eci.4|B4GT4_HUMAN|N-Acetyl-D-glucosamine(DB00141)|Q68D68_%7C_Q9BSW3_%7C_Q9C078|O60513|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_keratan_%20_sulfate_%20_biosynthetic_%20_process_%20_(GO:0018146)_%7C_keratan_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0042339)_%7C_membrane_%20_lipid_%20_metabolic_%20_process_%20_(GO:0006643)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)_%7C_protein_%20_N-linked_%20_glycosylation_%20_via_%20_asparagine_%20_(GO:0018279)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|Golgi_%20_membrane_%20_(GO:0000139)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|galactosyltransferase_%20_activity_%20_(GO:0008378)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_N-acetyllactosamine_%20_synthase_%20_activity_%20_(GO:0003945)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 119912256 indel.76783 G GT . PASS FUNCOTATION=[GPR156|hg19|chr3|119912256|119912257|FRAME_SHIFT_INS||INS|-|-|T|g.chr3:119912256_119912257insT|ENST00000464295.1|-|4|695|c.248_249insA|c.(247-249)tccfs|p.S84fs|0.425|ATTGGGACTGGACATCTTCA|GPR156_ENST00000461057.1_FRAME_SHIFT_INS_p.S84fs/GPR156_ENST00000315843.3_FRAME_SHIFT_INS_p.S84fs|||||||||||||||||||||||||194|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(104)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC143606|||HGNC:20844|G_%20_protein-coupled_%20_receptor_%20_156|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||PGR28_%2C__%20_GABABL||3q13.33|2014-11-19|||AF488739||165829|ENSG00000175697|12591167|NM_153002|285|G_%20_protein-coupled_%20_receptors_%2C__%20_Class_%20_C_%20_orphans|CCDS2997_%2C__%20_CCDS54629|OTTHUMG00000159406|165829|610464|NM_001168271|Q8NFN8|ENSG00000175697|uc011bjg.3|GP156_HUMAN||B7ZL66_%7C_E9PFZ4_%7C_Q14CM1_%7C_Q86SN6|Q8NFN8||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_GABA_%20_receptor_%20_activity_%20_(GO:0004965)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 120408670 exm341061 T C . PASS FUNCOTATION=[RABL3|hg19|chr3|120408670|120408670|NONSTOP||SNP|T|T|C|g.chr3:120408670T>C|ENST00000273375.3|-|8|741|c.711A>G|c.(709-711)tgA>tgG|p.*237W|0.3740648379052369|TGAGTGTAATTCAGTCATAAT|RABL3_ENST00000483733.1_NONSTOP_p.*213W/RABL3_ENST00000491398.1_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471052|NM_173825.3|NP_776186.2|HGNC:18072|RAB_%2C__%20_member_%20_of_%20_RAS_%20_oncogene_%20_family_%20_like_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"RAB_%2C__%20_member_%20_of_%20_RAS_%20_oncogene_%20_family-like_%20_3"|MGC23920||3q13.33|2016-04-04||2016-04-04|BC020832||285282|ENSG00000144840|12477932|NM_173825|394|RAB_%20_like_%20_GTPases|CCDS3001|OTTHUMG00000159668|285282||NM_173825|Q5HYI8|ENSG00000144840|uc003edx.3|RABL3_HUMAN||Q8WUD3|Q5HYI8|small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)||GTP_%20_binding_%20_(GO:0005525)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 122133383 exm2255644 T C . PASS FUNCOTATION=[WDR5B|hg19|chr3|122133383|122133383|SILENT||SNP|T|T|C|g.chr3:122133383T>C|ENST00000330689.4|-|1|1500|c.993A>G|c.(991-993)taA>taG|p.*331*|0.3516209476309227|TTCAAAGGGATTAGTGGTTAC|RP11-299J3.8_ENST00000608015.1_FIVE_PRIME_FLANK/RP11-299J3.8_ENST00000608346.1_FIVE_PRIME_FLANK/RP11-299J3.8_ENST00000608465.1_FIVE_PRIME_FLANK/RP11-299J3.8_ENST00000608756.1_FIVE_PRIME_FLANK/RP11-299J3.8_ENST00000609469.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR457279|NM_019069.3|NP_061942.2|HGNC:17826|WD_%20_repeat_%20_domain_%20_5B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ11287||3q21.1|2013-01-09|||AK002149||54554|ENSG00000196981|10369878|NM_019069|362|WD_%20_repeat_%20_domain_%20_containing|CCDS3012|OTTHUMG00000159489|54554||NM_019069|Q86VZ2|ENSG00000196981|uc003efa.2|WDR5B_HUMAN||B2RCM9_%7C_Q9NUL4|Q86VZ2|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 122180151 indel.77008 T TGGGA . PASS FUNCOTATION=[KPNA1|hg19|chr3|122180151|122180152|FRAME_SHIFT_INS||INS|-|-|GGGA|g.chr3:122180151_122180152insGGGA|ENST00000344337.6|-|5|529|c.351_352insTCCC|c.(352-354)attfs|p.I118fs|0.3275|CTTCATCAATAGGAGGGTTA|KPNA1_ENST00000466923.1_FIVE_PRIME_FLANK|Melanoma(12_%3B_340_%20_801_%20_11196_%20_19797)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||S75295|NM_002264.3|NP_002255.3|HGNC:6394|karyopherin_%20_subunit_%20_alpha_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"karyopherin_%20_alpha_%20_1_%20_(importin_%20_alpha_%20_5)"_%2C__%20_"karyopherin_%20_alpha_%20_1"|SRP1_%2C__%20_RCH2_%2C__%20_NPI-1_%2C__%20_IPOA5|"importin_%20_alpha_%20_5"|3q21.1|2016-10-05||2016-02-01|S75295||3836|ENSG00000114030|8052633|NM_002264|596_%7C_409|Importins_%7C_Armadillo_%20_repeat_%20_containing|CCDS3013|OTTHUMG00000159487|3836|600686|NM_002264|P52294|ENSG00000114030|uc003efe.3|IMA5_HUMAN||D3DN93_%7C_Q6IBQ9_%7C_Q9BQ56|P52294|apoptotic_%20_DNA_%20_fragmentation_%20_(GO:0006309)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_component_%20_disassembly_%20_involved_%20_in_%20_execution_%20_phase_%20_of_%20_apoptosis_%20_(GO:0006921)_%7C_cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_intracellular_%20_transport_%20_of_%20_virus_%20_(GO:0075733)_%7C_NLS-bearing_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006607)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0042307)_%7C_regulation_%20_of_%20_DNA_%20_recombination_%20_(GO:0000018)_%7C_viral_%20_life_%20_cycle_%20_(GO:0019058)_%7C_viral_%20_process_%20_(GO:0016032)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_dendrite_%20_(GO:0030425)_%7C_nuclear_%20_pore_%20_(GO:0005643)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|nuclear_%20_localization_%20_sequence_%20_binding_%20_(GO:0008139)_%7C_protein_%20_transporter_%20_activity_%20_(GO:0008565)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 130394240 exm350511 A T . PASS FUNCOTATION=[COL6A6|hg19|chr3|130394240|130394240|NONSTOP||SNP|A|A|T|g.chr3:130394240A>T|ENST00000358511.6|+|36|6822|c.6791A>T|c.(6790-6792)tAa>tTa|p.*2264L|0.371571072319202|CAACATGATTAAAAAAATGCT|COL6A6_ENST00000453409.2_NONSTOP_p.*2264L|||||||||||||||||||||||||71|biliary_tract(2)_%7C_breast(1)_%7C_central_nervous_system(45)_%7C_kidney(1)_%7C_pancreas(22)|||||||AM774227|NM_001102608.1|NP_001096078.1|HGNC:27023|collagen_%20_type_%20_VI_%20_alpha_%20_6_%20_chain|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"collagen_%2C__%20_type_%20_VI_%2C__%20_alpha_%20_6"|||3q22.1|2016-07-20||2016-07-20|AL713792||131873|ENSG00000206384|23869615|NM_001102608|490|Collagens|CCDS46911|OTTHUMG00000159653|131873|616613|NM_001102608|A6NMZ7|ENSG00000206384|uc010htl.4|CO6A6_HUMAN||A7DZQ0_%7C_A7DZQ1_%7C_A7DZQ2_%7C_Q69YT0|A6NMZ7|cell_%20_adhesion_%20_(GO:0007155)_%7C_collagen_%20_catabolic_%20_process_%20_(GO:0030574)_%7C_extracellular_%20_matrix_%20_disassembly_%20_(GO:0022617)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)|collagen_%20_trimer_%20_(GO:0005581)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_proteinaceous_%20_extracellular_%20_matrix_%20_(GO:0005578)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 131102185 exm2255693 G A . PASS FUNCOTATION=[NUDT16|hg19|chr3|131102185|131102185|SILENT||SNP|G|G|A|g.chr3:131102185G>A|ENST00000521288.1|+|3|619|c.588G>A|c.(586-588)taG>taA|p.*196*|0.5087281795511222|CTCATCACTAGAGGCAGCCCT|NUDT16_ENST00000502852.1_THREE_PRIME_UTR/NUDT16_ENST00000359850.3_SILENT_p.*163*/NUDT16_ENST00000537561.1_INTRON/RP11-933H2.4_ENST00000502521.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BP199028|||HGNC:26442|nudix_%20_hydrolase_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nudix_%20_(nucleoside_%20_diphosphate_%20_linked_%20_moiety_%20_X)-type_%20_motif_%20_16"|FLJ31265||3q22.1|2016-10-24||2015-11-13|AK055827||131870|ENSG00000198585|12477932|NM_152395|667|Nudix_%20_hydrolase_%20_family|CCDS3070_%2C__%20_CCDS54640_%2C__%20_CCDS54641|OTTHUMG00000159623|131870|617381|NM_001171905|Q96DE0|ENSG00000198585|uc003eog.3|NUD16_HUMAN||B4E3B4_%7C_E9PED4_%7C_F5GYJ1_%7C_Q96N82|Q96DE0|adenosine_%20_to_%20_inosine_%20_editing_%20_(GO:0006382)_%7C_dephosphorylation_%20_(GO:0016311)_%7C_dITP_%20_catabolic_%20_process_%20_(GO:0035863)_%7C_IDP_%20_catabolic_%20_process_%20_(GO:0046709)_%7C_mRNA_%20_catabolic_%20_process_%20_(GO:0006402)_%7C_negative_%20_regulation_%20_of_%20_rRNA_%20_processing_%20_(GO:2000233)_%7C_nucleobase-containing_%20_small_%20_molecule_%20_catabolic_%20_process_%20_(GO:0034656)_%7C_nucleobase-containing_%20_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0055086)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_cycle_%20_process_%20_(GO:0090068)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_double-strand_%20_break_%20_repair_%20_(GO:2000781)_%7C_proteolysis_%20_(GO:0006508)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_snoRNA_%20_catabolic_%20_process_%20_(GO:0016077)_%7C_XDP_%20_catabolic_%20_process_%20_(GO:1901639)|cytoplasm_%20_(GO:0005737)_%7C_nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|cobalt_%20_ion_%20_binding_%20_(GO:0050897)_%7C_dIDP_%20_diphosphatase_%20_activity_%20_(GO:0097383)_%7C_dITP_%20_diphosphatase_%20_activity_%20_(GO:0035870)_%7C_GTP_%20_binding_%20_(GO:0005525)_%7C_inosine-diphosphatase_%20_activity_%20_(GO:0090450)_%7C_ITP_%20_binding_%20_(GO:1901641)_%7C_m7G(5')pppN_%20_diphosphatase_%20_activity_%20_(GO:0050072)_%7C_magnesium_%20_ion_%20_binding_%20_(GO:0000287)_%7C_manganese_%20_ion_%20_binding_%20_(GO:0030145)_%7C_metalloexopeptidase_%20_activity_%20_(GO:0008235)_%7C_mRNA_%20_binding_%20_(GO:0003729)_%7C_nucleotide_%20_phosphatase_%20_activity_%2C__%20_acting_%20_on_%20_free_%20_nucleotides_%20_(GO:0098519)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_snoRNA_%20_binding_%20_(GO:0030515)_%7C_XTP_%20_binding_%20_(GO:1901640)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 132075720 exm2038069 T C . PASS FUNCOTATION=[ACPP|hg19|chr3|132075720|132075720|NONSTOP||SNP|T|T|C|g.chr3:132075720T>C|ENST00000475741.1|+|9|1111|c.1060T>C|c.(1060-1062)Tag>Cag|p.*354Q|0.5087281795511222|CAGTACAGATTAGTGTGCACA|ACPP_ENST00000351273.7_INTRON/ACPP_ENST00000336375.5_NONSTOP_p.*387Q|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X74961|||HGNC:125|acid_%20_phosphatase_%2C__%20_prostate|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ACP3_%2C__%20_ACP-3_%2C__%20_PAP|"prostatic_%20_acid_%20_phosphatase"|3q22.1|2015-08-21||||3.1.3.2|55|ENSG00000014257|1375464_%2C__%20_2842184|NM_001099|1071|Acid_%20_phosphatases|CCDS3073_%2C__%20_CCDS46916_%2C__%20_CCDS77818|OTTHUMG00000159650|55|171790|NM_001099|P15309|ENSG00000014257|uc010htp.3|PPAP_HUMAN||D3DNC6_%7C_Q5FBY0_%7C_Q96KY0_%7C_Q96QK9_%7C_Q96QM0|P15309|adenosine_%20_metabolic_%20_process_%20_(GO:0046085)_%7C_dephosphorylation_%20_(GO:0016311)_%7C_nucleotide_%20_metabolic_%20_process_%20_(GO:0009117)_%7C_positive_%20_regulation_%20_of_%20_adenosine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0060168)_%7C_purine_%20_nucleobase_%20_metabolic_%20_process_%20_(GO:0006144)_%7C_regulation_%20_of_%20_sensory_%20_perception_%20_of_%20_pain_%20_(GO:0051930)_%7C_thiamine_%20_metabolic_%20_process_%20_(GO:0006772)|apical_%20_part_%20_of_%20_cell_%20_(GO:0045177)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_filopodium_%20_(GO:0030175)_%7C_Golgi_%20_cisterna_%20_(GO:0031985)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intracellular_%20_(GO:0005622)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_multivesicular_%20_body_%20_(GO:0005771)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_secretory_%20_granule_%20_(GO:0030141)_%7C_vesicle_%20_membrane_%20_(GO:0012506)|5'-nucleotidase_%20_activity_%20_(GO:0008253)_%7C_acid_%20_phosphatase_%20_activity_%20_(GO:0003993)_%7C_choline_%20_binding_%20_(GO:0033265)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_lysophosphatidic_%20_acid_%20_phosphatase_%20_activity_%20_(GO:0052642)_%7C_phosphatase_%20_activity_%20_(GO:0016791)_%7C_thiamine_%20_phosphate_%20_phosphatase_%20_activity_%20_(GO:0042131)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 133928551 exm352529 T C . PASS FUNCOTATION=[RYK|hg19|chr3|133928551|133928551|START_CODON_SNP||SNP|T|T|C|g.chr3:133928551T>C|ENST00000427044.2|-|5|612|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.3192019950124688|TTGTAGCACATTTTCCTTCGT|RYK_ENST00000296084.4_MISSENSE_p.M191V|||||||||||||||||||||||||1073|biliary_tract(2)_%7C_breast(201)_%7C_central_nervous_system(60)_%7C_haematopoietic_and_lymphoid_tissue(54)_%7C_kidney(46)_%7C_large_intestine(71)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_stomach(54)_%7C_testis(13)|||||||BC021700|||HGNC:10481|receptor-like_%20_tyrosine_%20_kinase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|JTK5A|"JTK5A_%20_protein_%20_tyrosine_%20_kinase"_%2C__%20_"RYK_%20_receptor-like_%20_tyrosine_%20_kinase"|D3S3195_%2C__%20_RYK1_%2C__%20_JTK5||3q22.2|2016-10-05||2012-02-28|S59184|2.7.10.1|6259|ENSG00000163785|8386829|NM_001005861|321|Receptor_%20_Tyrosine_%20_Kinases|CCDS75016_%2C__%20_CCDS77820|OTTHUMG00000159750|6259|600524|NM_001005861|P34925|ENSG00000163785|uc032sdh.1|RYK_HUMAN||Q04696|P34925|axon_%20_guidance_%20_(GO:0007411)_%7C_corpus_%20_callosum_%20_development_%20_(GO:0022038)_%7C_neuron_%20_differentiation_%20_(GO:0030182)_%7C_neuron_%20_projection_%20_development_%20_(GO:0031175)_%7C_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0018108)_%7C_positive_%20_regulation_%20_of_%20_MAPK_%20_cascade_%20_(GO:0043410)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055)|cytoplasm_%20_(GO:0005737)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ATP_%20_binding_%20_(GO:0005524)_%7C_transmembrane_%20_receptor_%20_protein_%20_tyrosine_%20_kinase_%20_activity_%20_(GO:0004714)_%7C_transmembrane_%20_signaling_%20_receptor_%20_activity_%20_(GO:0004888)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 136046015 indel.77697 G GTA . PASS FUNCOTATION=[PCCB|hg19|chr3|136046015|136046016|FRAME_SHIFT_INS||INS|-|-|TA|g.chr3:136046015_136046016insTA|ENST00000471595.1|+|12|1235|c.1217_1218insTA|c.(1216-1218)gggfs|p.G407fs|0.5225|AGGAATACGGGGGCATCATC|PCCB_ENST00000483687.1_FRAME_SHIFT_INS_p.G388fs/PCCB_ENST00000490504.1_FRAME_SHIFT_INS_p.G350fs/PCCB_ENST00000469217.1_FRAME_SHIFT_INS_p.G427fs/PCCB_ENST00000251654.4_FRAME_SHIFT_INS_p.G407fs/PCCB_ENST00000468777.1_FRAME_SHIFT_INS_p.G438fs/PCCB_ENST00000466072.1_FRAME_SHIFT_INS_p.G427fs/PCCB_ENST00000462637.1_FRAME_SHIFT_INS_p.G384fs/PCCB_ENST00000482086.1_FRAME_SHIFT_INS_p.G291fs/PCCB_ENST00000478469.1_INTRON/PCCB_ENST00000474833.1_INTRON|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(2)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AC069524|||HGNC:8654|propionyl-CoA_%20_carboxylase_%20_beta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"propionyl_%20_Coenzyme_%20_A_%20_carboxylase_%2C__%20_beta_%20_polypeptide"|||3q22.3|2016-10-05||2015-11-11||6.4.1.3|5096|ENSG00000114054|2895916||||CCDS3089_%2C__%20_CCDS54643|OTTHUMG00000159792|5096|232050|NM_000532|P05166|ENSG00000114054|uc003eqy.3|PCCB_HUMAN|Biotin(DB00121)_%7C_L-Valine(DB00161)|B7Z2Z4_%7C_Q16813_%7C_Q96CX0|P05166|biotin_%20_metabolic_%20_process_%20_(GO:0006768)_%7C_cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_fatty_%20_acid_%20_beta-oxidation_%20_(GO:0006635)_%7C_short-chain_%20_fatty_%20_acid_%20_catabolic_%20_process_%20_(GO:0019626)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_mitochondrion_%20_(GO:0005739)|ATP_%20_binding_%20_(GO:0005524)_%7C_propionyl-CoA_%20_carboxylase_%20_activity_%20_(GO:0004658)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 137717711 exm353585 A G . PASS FUNCOTATION=[CLDN18|hg19|chr3|137717711|137717711|START_CODON_SNP||SNP|A|A|G|g.chr3:137717711A>G|ENST00000343735.4|+|1|135|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5511221945137157|GTGCGCCACCATGGCCGTGAC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471052|NM_001002026.2|NP_001002026.1|HGNC:2039|claudin_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SFTPJ|"surfactant_%20_associated_%20_protein_%20_J"|||3q22.3|2014-11-19|||AF221069_%2C__%20_AY102073||51208|ENSG00000066405||NM_001002026|488|Claudins|CCDS3095_%2C__%20_CCDS33862|OTTHUMG00000159762|51208|609210|NM_001002026|P56856|ENSG00000066405|uc003erp.2|CLD18_HUMAN||A5PL21_%7C_Q96PH4|P56856|calcium-independent_%20_cell-cell_%20_adhesion_%20_(GO:0016338)_%7C_cell_%20_junction_%20_assembly_%20_(GO:0034329)_%7C_cell-cell_%20_junction_%20_organization_%20_(GO:0045216)_%7C_tight_%20_junction_%20_assembly_%20_(GO:0070830)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_tight_%20_junction_%20_(GO:0005923)|identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 138256018 variant.77781 A G . PASS FUNCOTATION=[CEP70|hg19|chr3|138256018|138256018|NONSTOP||SNP|A|A|G|g.chr3:138256018A>G|ENST00000464035.1|-|6|797|c.637T>C|c.(637-639)Taa>Caa|p.*213Q|0.34413965087281795|TAGCAAAATTACTGTCTATCC|CEP70_ENST00000264982.3_SPLICE_SITE/CEP70_ENST00000481834.1_SPLICE_SITE/CEP70_ENST00000484888.1_SPLICE_SITE/CEP70_ENST00000489254.1_SPLICE_SITE/CEP70_ENST00000542237.1_SPLICE_SITE/CEP70_ENST00000478673.1_SPLICE_SITE|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471052|||HGNC:29972|centrosomal_%20_protein_%20_70|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"centrosomal_%20_protein_%20_70kDa"|BITE_%2C__%20_FLJ13036||3q22.3|2016-03-30||2016-03-30|AF202146||80321|ENSG00000114107|14654843|NM_024491|||CCDS3102_%2C__%20_CCDS75022_%2C__%20_CCDS75023_%2C__%20_CCDS75024_%2C__%20_CCDS82842|OTTHUMG00000159891|80321|614310|NM_001288964|Q8NHQ1|ENSG00000114107|uc003esl.5|CEP70_HUMAN||B7Z5I8_%7C_B7Z7E8_%7C_D3DNE9_%7C_F5GZX8_%7C_Q96B31_%7C_Q9H2C3_%7C_Q9H2Z1_%7C_Q9H940|Q8NHQ1|G2/M_%20_transition_%20_of_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0000086)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_nuclear_%20_membrane_%20_(GO:0031965)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 145939856 exm357008 C G . PASS FUNCOTATION=[PLSCR4|hg19|chr3|145939856|145939856|START_CODON_SNP||SNP|C|C|G|g.chr3:145939856C>G|ENST00000354952.2|-|2|244|c.3G>C|c.(1-3)atG>atC|p.M1I|0.26184538653366585|ACTTACCTGACATTTTGAAGA|PLSCR4_ENST00000446574.2_START_CODON_SNP_p.M1I/PLSCR4_ENST00000493382.1_START_CODON_SNP_p.M1I/PLSCR4_ENST00000433593.2_INTRON/PLSCR4_ENST00000383083.2_START_CODON_SNP_p.M1I|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471052|NM_020353.2|NP_065086.2|HGNC:16497|phospholipid_%20_scramblase_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||3q24|2014-11-18|||AF199023||57088|ENSG00000114698|10930526|NM_020353|954|Phospholipid_%20_scramblases|CCDS3133_%2C__%20_CCDS54651|OTTHUMG00000159415|57088|607612|NM_001128304|Q9NRQ2|ENSG00000114698|uc003evt.6|PLS4_HUMAN||A8K2E9_%7C_Q2TTR3_%7C_Q658L3_%7C_Q6ZR73_%7C_Q7Z505|Q9NRQ2|cellular_%20_response_%20_to_%20_lipopolysaccharide_%20_(GO:0071222)_%7C_phospholipid_%20_scrambling_%20_(GO:0017121)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_CD4_%20_receptor_%20_binding_%20_(GO:0042609)_%7C_enzyme_%20_binding_%20_(GO:0019899)_%7C_phospholipid_%20_scramblase_%20_activity_%20_(GO:0017128)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 146322998 exm357123 A G . PASS FUNCOTATION=[PLSCR5|hg19|chr3|146322998|146322998|START_CODON_SNP||SNP|A|A|G|g.chr3:146322998A>G|ENST00000443512.1|-|1|1006|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.36658354114713215|TTTAGAGGCCATGAAGATGTC|PLSCR5_ENST00000492200.1_START_CODON_SNP_p.M1T/PLSCR5_ENST00000482567.1_START_CODON_SNP_p.M1T|||||||||||||||||||||||||||||||||AY436642|NM_001085420.1|NP_001078889.1|HGNC:19952|phospholipid_%20_scramblase_%20_family_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phospholipid_%20_scramblase_%20_family_%2C__%20_member_%20_5"|||3q24|2015-11-18||2015-11-18|AY436642||389158|ENSG00000231213||XM_371670|954|Phospholipid_%20_scramblases|CCDS46931_%2C__%20_CCDS82853|OTTHUMG00000159437|389158||NM_001085420|A0PG75|ENSG00000231213|uc062otn.1|PLS5_HUMAN||B2RXK5|A0PG75|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 151531952 exm359634 T C . PASS FUNCOTATION=[AADAC|hg19|chr3|151531952|151531952|START_CODON_SNP||SNP|T|T|C|g.chr3:151531952T>C|ENST00000232892.7|+|1|128|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.38902743142144636|ACGTTCACCATGGGAAGAAAA|AADAC_ENST00000488869.1_START_CODON_SNP_p.M1T/RP11-454C18.2_ENST00000483843.2_RNA/RP11-454C18.2_ENST00000475855.1_RNA|Ovarian(30_%3B_839_%20_841_%20_2699_%20_32801_%20_46334)||||||||||||||||||||||||278|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(188)_%7C_pancreas(22)|||||||L32179|NM_001086.2|NP_001077.2|HGNC:17|arylacetamide_%20_deacetylase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"arylacetamide_%20_deacetylase_%20_(esterase)"|DAC_%2C__%20_CES5A1||3q25.1|2015-08-24||2012-07-13|L32179|3.1.1.3|13|ENSG00000114771|8063807|NM_001086|465_%7C_464|Arylacetamide_%20_deacetylase_%20_family_%7C_Lipases|CCDS33877|OTTHUMG00000159876|13|600338|NM_001086|P22760|ENSG00000114771|uc003eze.4|AAAD_HUMAN||A8K3L3_%7C_D3DNJ6_%7C_Q8N1A9|P22760|positive_%20_regulation_%20_of_%20_triglyceride_%20_catabolic_%20_process_%20_(GO:0010898)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|catalytic_%20_activity_%20_(GO:0003824)_%7C_deacetylase_%20_activity_%20_(GO:0019213)_%7C_lipase_%20_activity_%20_(GO:0016298)_%7C_serine_%20_hydrolase_%20_activity_%20_(GO:0017171)_%7C_triglyceride_%20_lipase_%20_activity_%20_(GO:0004806)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 151545958 exm359691 T C . PASS FUNCOTATION=[AADAC|hg19|chr3|151545958|151545958|NONSTOP||SNP|T|T|C|g.chr3:151545958T>C|ENST00000232892.7|+|5|1324|c.1198T>C|c.(1198-1200)Tag>Cag|p.*400Q|0.33915211970074816|GGAAAATCTATAGTAAAACAT|RP11-454C18.2_ENST00000483843.2_RNA/RP11-454C18.2_ENST00000475855.1_RNA|Ovarian(30_%3B_839_%20_841_%20_2699_%20_32801_%20_46334)||||||||||||||||||||||||278|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(188)_%7C_pancreas(22)|||||||L32179|NM_001086.2|NP_001077.2|HGNC:17|arylacetamide_%20_deacetylase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"arylacetamide_%20_deacetylase_%20_(esterase)"|DAC_%2C__%20_CES5A1||3q25.1|2015-08-24||2012-07-13|L32179|3.1.1.3|13|ENSG00000114771|8063807|NM_001086|465_%7C_464|Arylacetamide_%20_deacetylase_%20_family_%7C_Lipases|CCDS33877|OTTHUMG00000159876|13|600338|NM_001086|P22760|ENSG00000114771|uc003eze.4|AAAD_HUMAN||A8K3L3_%7C_D3DNJ6_%7C_Q8N1A9|P22760|positive_%20_regulation_%20_of_%20_triglyceride_%20_catabolic_%20_process_%20_(GO:0010898)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|catalytic_%20_activity_%20_(GO:0003824)_%7C_deacetylase_%20_activity_%20_(GO:0019213)_%7C_lipase_%20_activity_%20_(GO:0016298)_%7C_serine_%20_hydrolase_%20_activity_%20_(GO:0017171)_%7C_triglyceride_%20_lipase_%20_activity_%20_(GO:0004806)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 153202348 exm359862 G A . PASS FUNCOTATION=[C3orf79|hg19|chr3|153202348|153202348|START_CODON_SNP||SNP|G|G|A|g.chr3:153202348G>A|ENST00000446603.2|+|1|65|c.3G>A|c.(1-3)atG>atA|p.M1I|0.428927680798005|GAGTACAGATGCATGTATGTG|RP11-23D24.2_ENST00000493214.2_RNA|||||||||||||||||||||||||||||||||AF086445|NM_001101337.1|NP_001094807.1|HGNC:37259|chromosome_%20_3_%20_open_%20_reading_%20_frame_%20_79|Approved|unknown|other|||||3q25.2|2016-09-30|||AF086445||152118|ENSG00000237787||NM_001101337||||OTTHUMG00000159629|152118||NM_001101337|P0CE67|ENSG00000237787|uc003ezt.4|CC079_HUMAN|||P0CE67|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 154147404 exm360201 T G . PASS FUNCOTATION=[GPR149|hg19|chr3|154147404|154147404|START_CODON_SNP||SNP|T|T|G|g.chr3:154147404T>G|ENST00000389740.2|-|1|101|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.3865336658354115|AATAAAGACATTGTCCTTGGT||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||DQ318360|NM_001038705.1|NP_001033794.1|HGNC:23627|G_%20_protein-coupled_%20_receptor_%20_149|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||PGR10_%2C__%20_IEDA_%2C__%20_R35||3q25.2|2017-06-27|||AY255534||344758|ENSG00000174948|11161467_%2C__%20_12679517|XM_293580|262|G_%20_protein-coupled_%20_receptors_%2C__%20_Class_%20_A_%20_orphans|CCDS43162|OTTHUMG00000159131|344758||NM_001038705|Q86SP6|ENSG00000174948|uc003faa.3|GP149_HUMAN|||Q86SP6|antral_%20_ovarian_%20_follicle_%20_growth_%20_(GO:0001547)_%7C_estrous_%20_cycle_%20_phase_%20_(GO:0060206)_%7C_negative_%20_regulation_%20_of_%20_ovulation_%20_(GO:0060280)_%7C_preantral_%20_ovarian_%20_follicle_%20_growth_%20_(GO:0001546)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 158262029 indel.78315 C CT . PASS FUNCOTATION=[RSRC1|hg19|chr3|158262029|158262030|FRAME_SHIFT_INS||INS|-|-|T|g.chr3:158262029_158262030insT|ENST00000295930.3|+|10|1132|c.970_971insT|c.(970-972)cgafs|p.R324fs|0.3125|ATTGCTCTCCGACAAGAAAG|RSRC1_ENST00000480820.1_FRAME_SHIFT_INS_p.R324fs/RSRC1_ENST00000464171.1_FRAME_SHIFT_INS_p.R266fs/RSRC1_ENST00000312179.6_FRAME_SHIFT_INS_p.R266fs/RSRC1_ENST00000475278.2_FRAME_SHIFT_INS_p.R273fs|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC010357|NM_016625.3|NP_057709.2|HGNC:24152|arginine_%20_and_%20_serine_%20_rich_%20_coiled-coil_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"arginine/serine-rich_%20_coiled-coil_%20_1"|MGC12197_%2C__%20_BM-011_%2C__%20_SRrp53_%2C__%20_SFRS21|"splicing_%20_factor_%2C__%20_arginine/serine-rich_%20_21"|3q25.32|2016-06-06||2016-06-06|AF208853||51319|ENSG00000174891|15798186_%2C__%20_19065146|NM_016625|||CCDS3181_%2C__%20_CCDS63822|OTTHUMG00000158758|51319|613352|NM_001271834|Q96IZ7|ENSG00000174891|uc062pjk.1|RSRC1_HUMAN||A8K2R9_%7C_Q96QK2_%7C_Q9NZE5|Q96IZ7|mRNA_%20_splicing_%2C__%20_via_%20_spliceosome_%20_(GO:0000398)_%7C_nucleocytoplasmic_%20_transport_%20_(GO:0006913)_%7C_RNA_%20_splicing_%20_(GO:0008380)|cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_speck_%20_(GO:0016607)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 158428700 indel.78351 C CT . PASS FUNCOTATION=[RARRES1|hg19|chr3|158428700|158428701|FRAME_SHIFT_INS||INS|-|-|T|g.chr3:158428700_158428701insT|ENST00000237696.5|-|3|643|c.361_362insA|c.(361-363)ggafs|p.G121fs|0.4275|CCCAAACGTCCCTCACCTTC|RARRES1_ENST00000479756.1_FRAME_SHIFT_INS_p.G121fs/RARRES1_ENST00000498640.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U27185|NM_206963.1|NP_996846.1|HGNC:9867|retinoic_%20_acid_%20_receptor_%20_responder_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"retinoic_%20_acid_%20_receptor_%20_responder_%20_(tazarotene_%20_induced)_%20_1"|TIG1_%2C__%20_LXNL|"latexin-like"|3q25.32|2016-03-15||2016-03-15|U27185|||ENSG00000118849|8601727_%2C__%20_9270552||||CCDS3184_%2C__%20_CCDS54665|OTTHUMG00000158834|5918|605090|NM_002888|P49788|ENSG00000118849|uc003fci.4|TIG1_HUMAN|Tretinoin(DB00755)|Q8N1D7|P49788|negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 172607362 exm365204 A G . PASS FUNCOTATION=[SPATA16|hg19|chr3|172607362|172607362|NONSTOP||SNP|A|A|G|g.chr3:172607362A>G|ENST00000351008.3|-|11|1892|c.1708T>C|c.(1708-1710)Tag>Cag|p.*570Q|0.3790523690773067|CCTAATGACTACCTTTGCTGA||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||DQ142639|NM_031955.5|NP_114161.3|HGNC:29935|spermatogenesis_%20_associated_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||NYD-SP12||3q26.31|2014-11-19|||AF345909||83893|ENSG00000144962|12529416_%2C__%20_17847006|NM_031955|||CCDS3221|OTTHUMG00000156865|83893|609856|NM_031955|Q9BXB7|ENSG00000144962|uc003fin.5|SPT16_HUMAN||Q0R0N4_%7C_Q0R0S0_%7C_Q0R0W2_%7C_Q0R129_%7C_Q0R131_%7C_Q0R140_%7C_Q0R1B8_%7C_Q0R1G5_%7C_Q0R1I2_%7C_Q0R1J6_%7C_Q0R1S4_%7C_Q0R202_%7C_Q0R280_%7C_Q0R2F8_%7C_Q0R2N6_%7C_Q0R2N7_%7C_Q0R2R0_%7C_Q0R2R1_%7C_Q0R2S3_%7C_Q0R2S4_%7C_Q0R2S5_%7C_Q0R2T4_%7C_Q0R2T7_%7C_Q0R2U2_%7C_Q0R2U8_%7C_Q0R2U9_%7C_Q0R2V5_%7C_Q0R2V7_%7C_Q8NE67|Q9BXB7|cell_%20_differentiation_%20_(GO:0030154)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_spermatogenesis_%20_(GO:0007283)|Golgi_%20_apparatus_%20_(GO:0005794)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 183014766 indel.78803 T TC . PASS FUNCOTATION=[MCF2L2|hg19|chr3|183014766|183014767|FRAME_SHIFT_INS||INS|-|-|C|g.chr3:183014766_183014767insC|ENST00000328913.3|-|12|1793|c.1494_1495insG|c.(1495-1497)aagfs|p.K499fs|0.5275|GCATTACCTTTGCATCGAGG|MCF2L2_ENST00000473233.1_FRAME_SHIFT_INS_p.K499fs/MCF2L2_ENST00000414362.2_FRAME_SHIFT_INS_p.K499fs/MCF2L2_ENST00000447025.2_FRAME_SHIFT_INS_p.K499fs/B3GNT5_ENST00000462559.1_INTRON|||||||||||||||||||||||||247|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(38)_%7C_lung(1)_%7C_pancreas(22)|||||||BC064632|NM_015078.2|NP_055893.3|HGNC:30319|MCF.2_%20_cell_%20_line_%20_derived_%20_transforming_%20_sequence-like_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA0861_%2C__%20_ARHGEF22||3q27.1|2016-10-05|||AB020668||23101|ENSG00000053524||NM_015078|722|Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factors|CCDS3243|OTTHUMG00000158388|23101||NM_015078|Q86YR7|ENSG00000053524|uc003fli.3|MF2L2_HUMAN||O94942_%7C_Q6P2B8_%7C_Q6ZVJ5_%7C_Q8N318|Q86YR7|||Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 183273440 exm367182 A T . PASS FUNCOTATION=[KLHL6|hg19|chr3|183273440|183273440|START_CODON_SNP||SNP|A|A|T|g.chr3:183273440A>T|ENST00000341319.3|-|1|38|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.5087281795511222|TGCCATCAACATCGAGACTGA||||||||||||||||||||||||||186|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(85)_%7C_large_intestine(21)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||CH471052|NM_130446.2|NP_569713.2|HGNC:18653|kelch_%20_like_%20_family_%20_member_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_6_%20_(Drosophila)"|FLJ00029|"kelch-like_%20_protein_%20_KLHL6"|3q27.1|2016-10-05||2015-11-18|AF441792||89857|ENSG00000172578|11214971_%2C__%20_12617994|NM_130446|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS3245|OTTHUMG00000148673|89857|614214|NM_130446|Q8WZ60|ENSG00000172578|uc003flr.4|KLHL6_HUMAN||B2RB31_%7C_D3DNS8_%7C_Q8N5I1_%7C_Q8N892|Q8WZ60|B_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050853)_%7C_germinal_%20_center_%20_formation_%20_(GO:0002467)||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 195960068 exm376334 T C . PASS FUNCOTATION=[SLC51A|hg19|chr3|195960068|195960068|NONSTOP||SNP|T|T|C|g.chr3:195960068T>C|ENST00000296327.5|+|9|1230|c.1021T>C|c.(1021-1023)Taa>Caa|p.*341Q|0.428927680798005|CCTCAAAGCCTAAGGTGGATG|PCYT1A_ENST00000419333.1_INTRON/SLC51A_ENST00000479732.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CH471191|NM_152672.5|NP_689885.4|HGNC:29955|solute_%20_carrier_%20_family_%20_51_%20_alpha_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_51_%2C__%20_alpha_%20_subunit"|OSTalpha|"organic_%20_solute_%20_transporter_%2C__%20_alpha_%20_subunit"|3q29|2015-12-08||2015-12-08|||200931|ENSG00000163959|12719432_%2C__%20_20538072|NM_152672|752|Solute_%20_carriers|CCDS3314|OTTHUMG00000155684|200931|612084|NM_152672|Q86UW1|ENSG00000163959|uc003fwd.4|OSTA_HUMAN|Conjugated_%20_Estrogens(DB00286)_%7C_Digoxin(DB00390)_%7C_Dinoprostone(DB00917)|Q6ZMC7|Q86UW1|bile_%20_acid_%20_and_%20_bile_%20_salt_%20_transport_%20_(GO:0015721)_%7C_transport_%20_(GO:0006810)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)|protein_%20_heterodimerization_%20_activity_%20_(GO:0046982)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_transporter_%20_activity_%20_(GO:0005215)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 197260392 indel.79539 CA C . PASS FUNCOTATION=[BDH1|hg19|chr3|197260393|197260393|DE_NOVO_START_OUT_FRAME||DEL|A|A|-|g.chr3:197260393delA|ENST00000441275.1|-|3|||||0.5785536159600998|TCCGACGGCCAATCGGGATAA|BDH1_ENST00000392378.2_FRAME_SHIFT_DEL_p.I41fs/BDH1_ENST00000358186.2_FRAME_SHIFT_DEL_p.I41fs/BDH1_ENST00000392379.1_FRAME_SHIFT_DEL_p.I41fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||EF095211|||HGNC:1027|3-hydroxybutyrate_%20_dehydrogenase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|BDH|"3-hydroxybutyrate_%20_dehydrogenase_%20_(heart_%2C__%20_mitochondrial)"_%2C__%20_"3-hydroxybutyrate_%20_dehydrogenase_%2C__%20_type_%20_1"|SDR9C1|"short_%20_chain_%20_dehydrogenase/reductase_%20_family_%20_9C_%2C__%20_member_%20_1"|3q29|2016-12-12|2005-11-15|2016-12-12|M93107|1.1.1.30|622|ENSG00000161267|1639787_%2C__%20_19027726_%2C__%20_21791085|NM_004051|743|Short_%20_chain_%20_dehydrogenase/reductase_%20_superfamily|CCDS3328|OTTHUMG00000155478|622|603063|NM_004051|Q02338|ENSG00000161267|uc003fxu.3|BDH_HUMAN||D3DXC0_%7C_Q96ET1_%7C_Q9BRZ4|Q02338|adipose_%20_tissue_%20_development_%20_(GO:0060612)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_cellular_%20_ketone_%20_body_%20_metabolic_%20_process_%20_(GO:0046950)_%7C_cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_ketone_%20_body_%20_biosynthetic_%20_process_%20_(GO:0046951)_%7C_ketone_%20_body_%20_catabolic_%20_process_%20_(GO:0046952)_%7C_liver_%20_development_%20_(GO:0001889)_%7C_response_%20_to_%20_cadmium_%20_ion_%20_(GO:0046686)_%7C_response_%20_to_%20_corticosterone_%20_(GO:0051412)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_response_%20_to_%20_estradiol_%20_(GO:0032355)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_response_%20_to_%20_growth_%20_hormone_%20_(GO:0060416)_%7C_response_%20_to_%20_insulin_%20_(GO:0032868)_%7C_response_%20_to_%20_nutrient_%20_(GO:0007584)_%7C_response_%20_to_%20_starvation_%20_(GO:0042594)_%7C_response_%20_to_%20_toxic_%20_substance_%20_(GO:0009636)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|3-hydroxybutyrate_%20_dehydrogenase_%20_activity_%20_(GO:0003858)_%7C_phospholipid_%20_binding_%20_(GO:0005543)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 2632732 exm2240883 A G . PASS FUNCOTATION=[FAM193A|hg19|chr4|2632732|2632732|START_CODON_SNP||SNP|A|A|G|g.chr4:2632732A>G|ENST00000502458.1|+|3|322|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5960099750623441|TGTGCTGGAGATGAAGGTCCG|FAM193A_ENST00000324666.5_START_CODON_SNP_p.M1V/FAM193A_ENST00000382839.3_START_CODON_SNP_p.M1V/FAM193A_ENST00000505311.1_START_CODON_SNP_p.M1V/FAM193A_ENST00000545951.1_START_CODON_SNP_p.M1V|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC144340|||HGNC:16822|family_%20_with_%20_sequence_%20_similarity_%20_193_%20_member_%20_A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C4orf8|"chromosome_%20_4_%20_open_%20_reading_%20_frame_%20_8"_%2C__%20_"family_%20_with_%20_sequence_%20_similarity_%20_193_%2C__%20_member_%20_A"|RES4-22||4p16.3|2016-10-24|2009-09-04|2015-11-18|AB000459||8603|ENSG00000125386|9734812|NM_003704|||CCDS33943_%2C__%20_CCDS58874_%2C__%20_CCDS58875_%2C__%20_CCDS58876|OTTHUMG00000160512|8603||NM_001256666|P78312|ENSG00000125386|uc003gfd.4|F193A_HUMAN||B7ZM85_%7C_B9EGR0_%7C_E9PFA1_%7C_O43607_%7C_P78311_%7C_P78313_%7C_Q9UEG8|P78312|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 2835561 exm383150 A G . PASS FUNCOTATION=[SH3BP2|hg19|chr4|2835561|2835561|NONSTOP||SNP|A|A|G|g.chr4:2835561A>G|ENST00000356331.5|+|13|1947|c.1686A>G|c.(1684-1686)tgA>tgG|p.*562W|0.6408977556109726|GGCCTAGGTGATGGCAGTCCA|SH3BP2_ENST00000511747.1_NONSTOP_p.*562W/SH3BP2_ENST00000435136.2_NONSTOP_p.*562W/SH3BP2_ENST00000452765.2_NONSTOP_p.*562W/SH3BP2_ENST00000442312.2_NONSTOP_p.*590W/SH3BP2_ENST00000503393.2_NONSTOP_p.*619W|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)||||Cherubism|Familial_%20_Benign_%20_Giant-cell_%20_Tumor_%20_of_%20_the_%20_Jaw_%2C__%20_Familial_%20_Multilocular_%20_Cystic_%20_Disease|Familial_%20_Cancer_%20_Database|U56386|NM_003023.4|NP_003014.3|HGNC:10825|SH3_%20_domain_%20_binding_%20_protein_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Cherubism"|RES4-23_%2C__%20_CRBM||4p16.3|2016-10-25||2016-04-28|BC022996||6452|ENSG00000087266|9299232_%2C__%20_11381256|NM_003023|682_%7C_741|Pleckstrin_%20_homology_%20_domain_%20_containing_%7C_SH2_%20_domain_%20_containing|CCDS33944_%2C__%20_CCDS54715_%2C__%20_CCDS54716|OTTHUMG00000160801|6452|602104|NM_001122681|P78314|ENSG00000087266|uc003gfi.5|3BP2_HUMAN||A6NNC2_%7C_B2R5R6_%7C_B4DT04_%7C_D3DVR0_%7C_D6R919_%7C_O00500_%7C_O15373_%7C_P78315|P78314|positive_%20_regulation_%20_of_%20_signal_%20_transduction_%20_(GO:0009967)_%7C_signal_%20_transduction_%20_(GO:0007165)||SH3/SH2_%20_adaptor_%20_activity_%20_(GO:0005070)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 7765492 exm2275332 C G . PASS FUNCOTATION=[AFAP1|hg19|chr4|7765492|7765492|NONSTOP||SNP|C|C|G|g.chr4:7765492C>G|ENST00000360265.4|-|16|2428|c.2193G>C|c.(2191-2193)taG>taC|p.*731Y|0.5411471321695761|CTGCTGTCCCCTAGGTCCCGT|AFAP1_ENST00000382543.3_NONSTOP_p.*815Y/AFAP1_ENST00000358461.2_NONSTOP_p.*731Y/AFAP1_ENST00000420658.1_NONSTOP_p.*815Y/AFAP1-AS1_ENST00000608442.1_RNA/AFAP1_ENST00000513842.1_INTRON|||||||||||||||||||||||||124|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_skin(32)_%7C_upper_aerodigestive_tract(1)|||||||BC032777|||HGNC:24017|actin_%20_filament_%20_associated_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||AFAP-110_%2C__%20_AFAP||4p16.1|2016-10-05||2007-02-07|AB209676||60312|ENSG00000196526|14755689_%2C__%20_11641786_%2C__%20_11607843|NM_021638|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS3397_%2C__%20_CCDS47010|OTTHUMG00000125515|60312|608252|NM_001134647|Q8N556|ENSG00000196526|uc003gkg.2|AFAP1_HUMAN||A8K442_%7C_B4DMU2_%7C_E9PDT7_%7C_Q59EY5_%7C_Q9HBY1|Q8N556||cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_focal_%20_adhesion_%20_(GO:0005925)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 39450305 exm2256602 A G . PASS FUNCOTATION=[KLB|hg19|chr4|39450305|39450305|SILENT||SNP|A|A|G|g.chr4:39450305A>G|ENST00000257408.4|+|5|3231|c.3134A>G|c.(3133-3135)tAa>tGa|p.*1045*|0.38902743142144636|GTTGTTAGCTAAACTGATCTG||||||||||||||||||||||||||70|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_lung(1)_%7C_pancreas(22)|||||||BC113653|NM_175737.3|NP_783864.1|HGNC:15527|klotho_%20_beta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||||"b-Klotho"|4p14|2016-12-15|||AB079373||152831|ENSG00000134962||NM_175737|||CCDS3451|OTTHUMG00000128577|152831|611135|NM_175737|Q86Z14|ENSG00000134962|uc003gua.4|KLOTB_HUMAN||Q2M3K8|Q86Z14|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_MAPKKK_%20_cascade_%20_by_%20_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0090080)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|fibroblast_%20_growth_%20_factor_%20_binding_%20_(GO:0017134)_%7C_hydrolase_%20_activity_%2C__%20_hydrolyzing_%20_O-glycosyl_%20_compounds_%20_(GO:0004553)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 40810351 exm2074268 A T . PASS FUNCOTATION=[NSUN7|hg19|chr4|40810351|40810351|NONSTOP||SNP|A|A|T|g.chr4:40810351A>T|ENST00000316607.5|+|11|1895|c.1428A>T|c.(1426-1428)tgA>tgT|p.*476C|0.38403990024937656|AGTGTCTGTGAATGATGTTTT|NSUN7_ENST00000381782.2_MISSENSE_p.N518Y/RP11-632F7.3_ENST00000513127.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||BC036568|||HGNC:25857|NOP2/Sun_%20_RNA_%20_methyltransferase_%20_family_%20_member_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"NOL1/NOP2/Sun_%20_domain_%20_family_%2C__%20_member_%20_7"_%2C__%20_"NOP2/Sun_%20_domain_%20_family_%2C__%20_member_%20_7"|FLJ14001||4p14|2015-11-17||2015-11-17|BC036568||79730|ENSG00000179299|17442852|NM_024677|664|NOP2/Sun_%20_RNA_%20_methyltransferase_%20_family|CCDS3461_%2C__%20_CCDS82917|OTTHUMG00000128597|79730|617185|NM_024677|Q8NE18|ENSG00000179299|uc003gvj.4|NSUN7_HUMAN||C9JI19_%7C_Q8N9K8_%7C_Q9H815|Q8NE18|||methyltransferase_%20_activity_%20_(GO:0008168)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 41663502 indel.80694 A AT . PASS FUNCOTATION=[LIMCH1|hg19|chr4|41663502|41663503|FRAME_SHIFT_INS||INS|-|-|T|g.chr4:41663502_41663503insT|ENST00000514096.1|+|8|1690|c.1470_1471insT|c.(1471-1473)gggfs|p.G491fs|0.39|ATCAAGAAAAGGGAATATAG|LIMCH1_ENST00000313860.7_FRAME_SHIFT_INS_p.G650fs/LIMCH1_ENST00000512946.1_FRAME_SHIFT_INS_p.G650fs/LIMCH1_ENST00000508501.1_FRAME_SHIFT_INS_p.G650fs/LIMCH1_ENST00000396595.3_FRAME_SHIFT_INS_p.G496fs/LIMCH1_ENST00000381753.4_FRAME_SHIFT_INS_p.G484fs/LIMCH1_ENST00000503057.1_FRAME_SHIFT_INS_p.G1035fs/LIMCH1_ENST00000513024.1_FRAME_SHIFT_INS_p.G479fs/LIMCH1_ENST00000512820.1_FRAME_SHIFT_INS_p.G638fs/LIMCH1_ENST00000512632.1_FRAME_SHIFT_INS_p.G650fs/LIMCH1_ENST00000509277.1_FRAME_SHIFT_INS_p.G484fs/LIMCH1_ENST00000511496.1_FRAME_SHIFT_INS_p.G491fs|||||||||||||||||||||||||23|central_nervous_system(22)_%7C_lung(1)|||||||AC124009|||HGNC:29191|LIM_%20_and_%20_calponin_%20_homology_%20_domains_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||DKFZP686A01247_%2C__%20_LIMCH1A_%2C__%20_LMO7B||4p13|2015-08-25|2008-01-09||AB029025||22998|ENSG00000064042|10470851|NM_014988|1218|LIM_%20_domain_%20_containing|CCDS33977_%2C__%20_CCDS47047_%2C__%20_CCDS54763_%2C__%20_CCDS54764_%2C__%20_CCDS54765_%2C__%20_CCDS75119_%2C__%20_CCDS75121_%2C__%20_CCDS82919_%2C__%20_CCDS82920|OTTHUMG00000160575|22998|617750|NM_001112717|Q9UPQ0|ENSG00000064042|uc003gvu.6|LIMC1_HUMAN||A8MXC3_%7C_E9PHM7_%7C_Q503B5_%7C_Q5CZB1_%7C_Q5CZB6_%7C_Q5H9S8_%7C_Q68E07_%7C_Q6PJ44_%7C_Q7Z3G5_%7C_Q8N3S9_%7C_Q8N6M2|Q9UPQ0|actomyosin_%20_structure_%20_organization_%20_(GO:0031032)||zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 47593397 exm397774 A G . PASS FUNCOTATION=[ATP10D|hg19|chr4|47593397|47593397|NONSTOP||SNP|A|A|G|g.chr4:47593397A>G|ENST00000273859.3|+|23|4549|c.4280A>G|c.(4279-4281)tAg>tGg|p.*1427W|0.4239401496259352|AAAGAAAGCTAGATACCCTCC||||||||||||||||||||||||||93|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(1)_%7C_large_intestine(11)_%7C_lung(1)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||CH471069|NM_020453.3|NP_065186.3|HGNC:13549|ATPase_%20_phospholipid_%20_transporting_%20_10D_%20_(putative)|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ATPase_%2C__%20_Class_%20_V_%2C__%20_type_%20_10D"|ATPVD_%2C__%20_KIAA1487||4p12|2016-06-28||2016-02-11|AB040920||57205|ENSG00000145246|12532265|NM_020453|1210|ATPase_%20_phospholipid_%20_transporting|CCDS3476|OTTHUMG00000160784|57205||NM_020453|Q9P241|ENSG00000145246|uc003gxk.2|AT10D_HUMAN||A2RRC8_%7C_D6REN2_%7C_Q8NC70_%7C_Q96SR3|Q9P241|cation_%20_transport_%20_(GO:0006812)_%7C_ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_phospholipid_%20_translocation_%20_(GO:0045332)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ATP_%20_binding_%20_(GO:0005524)_%7C_cation-transporting_%20_ATPase_%20_activity_%20_(GO:0019829)_%7C_magnesium_%20_ion_%20_binding_%20_(GO:0000287)_%7C_phospholipid-translocating_%20_ATPase_%20_activity_%20_(GO:0004012)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 57350953 indel.81056 C CG . PASS FUNCOTATION=[SRP72|hg19|chr4|57350953|57350954|FRAME_SHIFT_INS||INS|-|-|G|g.chr4:57350953_57350954insG|ENST00000342756.5|+|10|1730|c.1009_1010insG|c.(1009-1011)catfs|p.H337fs|0.3725|AGTCCCGAGCATCTCTTACC|SRP72_ENST00000510663.1_FRAME_SHIFT_INS_p.H276fs|||||||||||||||||||||||||115|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_upper_aerodigestive_tract(1)|||||||CH471057|NM_006947.3|NP_008878.3|HGNC:11303|signal_%20_recognition_%20_particle_%20_72|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"signal_%20_recognition_%20_particle_%20_72kDa"|||4q12|2016-10-05||2016-06-22|AF069765||6731|ENSG00000174780|9224693_%2C__%20_9857079||769|Tetratricopeptide_%20_repeat_%20_domain_%20_containing|CCDS3506_%2C__%20_CCDS58898|OTTHUMG00000128843|6731|602122|NM_001267722|O76094|ENSG00000174780|uc003hbv.4|SRP72_HUMAN||G5E9Z8_%7C_Q7Z3C0|O76094|cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_SRP-dependent_%20_cotranslational_%20_protein_%20_targeting_%20_to_%20_membrane_%20_(GO:0006614)_%7C_translation_%20_(GO:0006412)|cytosol_%20_(GO:0005829)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_signal_%20_recognition_%20_particle_%2C__%20_endoplasmic_%20_reticulum_%20_targeting_%20_(GO:0005786)|7S_%20_RNA_%20_binding_%20_(GO:0008312)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_signal_%20_recognition_%20_particle_%20_binding_%20_(GO:0005047)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 68829109 exm402434 C T . PASS FUNCOTATION=[TMPRSS11A|hg19|chr4|68829109|68829109|START_CODON_SNP||SNP|C|C|T|g.chr4:68829109C>T|ENST00000334830.7|-|1|750|c.3G>A|c.(1-3)atG>atA|p.M1I|0.371571072319202|ACCGATACATCATGTACAGGA|TMPRSS11A_ENST00000508048.1_FIVE_PRIME_UTR/TMPRSS11A_ENST00000396188.2_START_CODON_SNP_p.M1I/UBA6-AS1_ENST00000500538.2_RNA|NSCLC(26_%3B_2_%20_894_%20_10941_%20_14480_%20_22546)||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BN000133|||HGNC:27954|transmembrane_%20_protease_%2C__%20_serine_%20_11A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ECRG1||4q13.2|2014-11-19|||AF071882||339967|ENSG00000187054|15328353|NM_182606|738|Proteases_%2C__%20_serine|CCDS3519_%2C__%20_CCDS47065|OTTHUMG00000129303|339967|611704|NM_001114387|Q6ZMR5|ENSG00000187054|uc003hdr.2|TM11A_HUMAN||J3KNQ8_%7C_Q2NKI9_%7C_Q6JE90_%7C_Q7RTY4_%7C_Q86TK8|Q6ZMR5|cell_%20_cycle_%20_(GO:0007049)|extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 69093631 variant.81168 A C . PASS FUNCOTATION=[TMPRSS11B|hg19|chr4|69093631|69093631|NONSTOP||SNP|A|A|C|g.chr4:69093631A>C|ENST00000332644.5|-|10|1411|c.1249T>G|c.(1249-1251)Tga>Gga|p.*417G|0.3092269326683292|CTTTTTTTTCAGAGTCCAGTC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BX537945|NM_182502.3|NP_872308.2|HGNC:25398|transmembrane_%20_protease_%2C__%20_serine_%20_11B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||4q13.2|2014-11-19|||BX537945||132724|ENSG00000185873||NM_182502|738|Proteases_%2C__%20_serine|CCDS3521|OTTHUMG00000129301|132724||NM_182502|Q86T26|ENSG00000185873|uc003hdw.5|TM11B_HUMAN||A8K4D9|Q86T26||extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 70513361 exm403696 A G . PASS FUNCOTATION=[UGT2A1|hg19|chr4|70513361|70513361|START_CODON_SNP||SNP|A|A|G|g.chr4:70513361A>G|ENST00000503640.1|-|1|58|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.3566084788029925|GTTGTTTAACATGATGTGGCT|UGT2A1_ENST00000514019.1_START_CODON_SNP_p.M1T/UGT2A1_ENST00000512704.1_START_CODON_SNP_p.M1T/UGT2A1_ENST00000286604.4_START_CODON_SNP_p.M1T|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||FJ664273|NM_006798.3|NP_006789.2|HGNC:12542|UDP_%20_glucuronosyltransferase_%20_family_%20_2_%20_member_%20_A1_%20_complex_%20_locus|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"UDP_%20_glycosyltransferase_%20_2_%20_family_%2C__%20_polypeptide_%20_A1"_%2C__%20_"UDP_%20_glucuronosyltransferase_%20_2_%20_family_%2C__%20_polypeptide_%20_A1_%2C__%20_complex_%20_locus"|||4q13.3|2016-03-01||2016-03-01|AJ006054||10941|ENSG00000173610|10359671|NM_006798|363|UDP_%20_glucuronosyltransferases|CCDS3529_%2C__%20_CCDS58901_%2C__%20_CCDS58902_%2C__%20_CCDS77925|OTTHUMG00000184942|10941|604716|NM_001252274|Q9Y4X1|ENSG00000173610|uc062xbf.1|UD2A1_HUMAN||B4E2F4_%7C_D3GER1_%7C_D3GER2_%7C_E9PDM7_%7C_J3KNA3|Q9Y4X1|cellular_%20_glucuronidation_%20_(GO:0052695)_%7C_detection_%20_of_%20_chemical_%20_stimulus_%20_(GO:0009593)_%7C_metabolic_%20_process_%20_(GO:0008152)_%7C_sensory_%20_perception_%20_of_%20_smell_%20_(GO:0007608)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|glucuronosyltransferase_%20_activity_%20_(GO:0015020)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 71201943 rs13039 A G . PASS FUNCOTATION=[CABS1|hg19|chr4|71201943|71201943|SILENT||SNP|A|A|G|g.chr4:71201943A>G|ENST00000273936.5|+|1|1261|c.1187A>G|c.(1186-1188)tAa>tGa|p.*396*|0.3690773067331671|TTCATGATTTAAAAGCAACAA||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471057|NM_033122.3|NP_149113.3|HGNC:30710|calcium_%20_binding_%20_protein_%2C__%20_spermatid_%20_associated_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C4orf35|"chromosome_%20_4_%20_open_%20_reading_%20_frame_%20_35"_%2C__%20_"calcium-binding_%20_protein_%2C__%20_spermatid-specific_%20_1"|NYD-SP26_%2C__%20_FLJ32897_%2C__%20_CLPH|"casein-like_%20_phosphoprotein"|4q13.3|2016-02-29|2011-01-25|2016-02-29|AF380838||85438|ENSG00000145309|19208547_%2C__%20_19271754|NM_033122|||CCDS3539|OTTHUMG00000129405|85438||NM_033122|Q96KC9|ENSG00000145309|uc003hff.4|CABS1_HUMAN||B2RCB5_%7C_Q86UE0_%7C_Q96M17|Q96KC9|spermatogenesis_%20_(GO:0007283)|mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_motile_%20_cilium_%20_(GO:0031514)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 71275790 exm2276910 T C . PASS FUNCOTATION=[PROL1|hg19|chr4|71275790|71275790|NONSTOP||SNP|T|T|C|g.chr4:71275790T>C|ENST00000399575.2|+|3|919|c.745T>C|c.(745-747)Tga>Cga|p.*249R|0.3940149625935162|CATTTTTGGTTGAACATGCAA||||||||||||||||||||||||||136|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(44)_%7C_large_intestine(35)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||S83198|NM_021225.4|NP_067048.4||||||||||||||||||||||||||||||PROL1_HUMAN||A8MZ07_%7C_P85047|Q99935|negative_%20_regulation_%20_of_%20_endopeptidase_%20_activity_%20_(GO:0010951)_%7C_regulation_%20_of_%20_sensory_%20_perception_%20_of_%20_pain_%20_(GO:0051930)_%7C_retina_%20_homeostasis_%20_(GO:0001895)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|endopeptidase_%20_inhibitor_%20_activity_%20_(GO:0004866)_%7C_peptidase_%20_inhibitor_%20_activity_%20_(GO:0030414)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 74270123 exm405598 C T . PASS FUNCOTATION=[ALB|hg19|chr4|74270123|74270123|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr4:74270123C>T|ENST00000503124.1|+|1|||||0.3192019950124688|TCGAGATGCACGTAAGAAATC|ALB_ENST00000295897.4_SPLICE_SITE_p.H27Y/ALB_ENST00000509063.1_SPLICE_SITE_p.H27Y/ALB_ENST00000401494.3_SPLICE_SITE_p.H27Y/ALB_ENST00000415165.2_SPLICE_SITE_p.H27Y/ALB_ENST00000505649.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AC108157|||HGNC:399|albumin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||4q13.3|2014-11-18|2006-06-30|2006-06-30|V00494||213|ENSG00000163631|6292049_%2C__%20_6192711|NM_000477|||CCDS3555|OTTHUMG00000129919|213|103600|NM_000477|P02768|ENSG00000163631|uc003hgs.5|FBF1_HUMAN||B5MEM5_%7C_Q96IF6_%7C_Q96JG4_%7C_Q96MA8|Q8TES7|apical_%20_junction_%20_assembly_%20_(GO:0043297)_%7C_cilium_%20_assembly_%20_(GO:0042384)_%7C_establishment_%20_of_%20_epithelial_%20_cell_%20_polarity_%20_(GO:0090162)|cell_%20_junction_%20_(GO:0030054)_%7C_centriole_%20_(GO:0005814)_%7C_ciliary_%20_transition_%20_fiber_%20_(GO:0097539)_%7C_spindle_%20_pole_%20_(GO:0000922)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 76943085 exm407033 A G . PASS FUNCOTATION=[CXCL10|hg19|chr4|76943085|76943085|NONSTOP||SNP|A|A|G|g.chr4:76943085A>G|ENST00000306602.1|-|4|361|c.295T>C|c.(295-297)Taa>Caa|p.*99Q|0.4164588528678304|CTCTGGTTTTAAGGAGATCTT|ART3_ENST00000341029.5_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X02530|NM_001565.3|NP_001556.2|HGNC:10637|C-X-C_%20_motif_%20_chemokine_%20_ligand_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|INP10_%2C__%20_SCYB10|"small_%20_inducible_%20_cytokine_%20_subfamily_%20_B_%20_(Cys-X-Cys)_%2C__%20_member_%20_10"_%2C__%20_"chemokine_%20_(C-X-C_%20_motif)_%20_ligand_%20_10"|IFI10_%2C__%20_IP-10_%2C__%20_crg-2_%2C__%20_mob-1_%2C__%20_C7_%2C__%20_gIP-10||4q21.1|2016-10-05|2002-08-23|2016-03-01|X02530||3627|ENSG00000169245|2437586_%2C__%20_3925348||542_%7C_483|Endogenous_%20_ligands_%7C_Chemokine_%20_ligands|CCDS43240|OTTHUMG00000160887|3627|147310|NM_001565|P02778|ENSG00000169245|uc003hjl.5|CXL10_HUMAN||Q96QJ5|P02778|blood_%20_circulation_%20_(GO:0008015)_%7C_cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007166)_%7C_cell-cell_%20_signaling_%20_(GO:0007267)_%7C_cellular_%20_response_%20_to_%20_heat_%20_(GO:0034605)_%7C_cellular_%20_response_%20_to_%20_lipopolysaccharide_%20_(GO:0071222)_%7C_chemokine-mediated_%20_signaling_%20_pathway_%20_(GO:0070098)_%7C_chemotaxis_%20_(GO:0006935)_%7C_defense_%20_response_%20_to_%20_virus_%20_(GO:0051607)_%7C_G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_muscle_%20_organ_%20_development_%20_(GO:0007517)_%7C_negative_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0016525)_%7C_positive_%20_regulation_%20_of_%20_cAMP_%20_metabolic_%20_process_%20_(GO:0030816)_%7C_positive_%20_regulation_%20_of_%20_cAMP-mediated_%20_signaling_%20_(GO:0043950)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_leukocyte_%20_chemotaxis_%20_(GO:0002690)_%7C_positive_%20_regulation_%20_of_%20_release_%20_of_%20_sequestered_%20_calcium_%20_ion_%20_into_%20_cytosol_%20_(GO:0051281)_%7C_positive_%20_regulation_%20_of_%20_T_%20_cell_%20_migration_%20_(GO:2000406)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_protein_%20_secretion_%20_(GO:0009306)_%7C_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0042127)_%7C_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0045859)_%7C_response_%20_to_%20_auditory_%20_stimulus_%20_(GO:0010996)_%7C_response_%20_to_%20_cold_%20_(GO:0009409)_%7C_response_%20_to_%20_gamma_%20_radiation_%20_(GO:0010332)_%7C_response_%20_to_%20_vitamin_%20_D_%20_(GO:0033280)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_T_%20_cell_%20_chemotaxis_%20_(GO:0010818)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|cAMP-dependent_%20_protein_%20_kinase_%20_regulator_%20_activity_%20_(GO:0008603)_%7C_chemokine_%20_activity_%20_(GO:0008009)_%7C_CXCR3_%20_chemokine_%20_receptor_%20_binding_%20_(GO:0048248)_%7C_heparin_%20_binding_%20_(GO:0008201)_%7C_receptor_%20_binding_%20_(GO:0005102)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 76955947 exm407044 T A . PASS FUNCOTATION=[CXCL11|hg19|chr4|76955947|76955947|NONSTOP||SNP|T|T|A|g.chr4:76955947T>A|ENST00000503860.1|-|5|663|c.284A>T|c.(283-285)tAa>tTa|p.*95L|0.34663341645885287|TTGATATTTTTAAAAATTCTT|CXCL11_ENST00000306621.3_NONSTOP_p.*95L/ART3_ENST00000341029.5_INTRON|Pancreas(31_%3B_57_%20_931_%20_1690_%20_18027_%20_37686)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||Y15221|||HGNC:10638|C-X-C_%20_motif_%20_chemokine_%20_ligand_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SCYB9B_%2C__%20_SCYB11|"small_%20_inducible_%20_cytokine_%20_subfamily_%20_B_%20_(Cys-X-Cys)_%2C__%20_member_%20_11"_%2C__%20_"chemokine_%20_(C-X-C_%20_motif)_%20_ligand_%20_11"|H174_%2C__%20_b-R1_%2C__%20_I-TAC_%2C__%20_IP-9||4q21.1|2016-10-05|2002-08-23|2016-03-01|U66096||6373|ENSG00000169248|9730616||542_%7C_483|Endogenous_%20_ligands_%7C_Chemokine_%20_ligands|CCDS3574|OTTHUMG00000130101|6373|604852|NM_001302123|O14625|ENSG00000169248|uc062xkv.1|CXL11_HUMAN||Q53YA3_%7C_Q92840|O14625|cell-cell_%20_signaling_%20_(GO:0007267)_%7C_chemokine-mediated_%20_signaling_%20_pathway_%20_(GO:0070098)_%7C_chemotaxis_%20_(GO:0006935)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_positive_%20_regulation_%20_of_%20_cAMP_%20_metabolic_%20_process_%20_(GO:0030816)_%7C_positive_%20_regulation_%20_of_%20_cAMP-mediated_%20_signaling_%20_(GO:0043950)_%7C_positive_%20_regulation_%20_of_%20_release_%20_of_%20_sequestered_%20_calcium_%20_ion_%20_into_%20_cytosol_%20_(GO:0051281)_%7C_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0042127)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_T_%20_cell_%20_chemotaxis_%20_(GO:0010818)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|chemokine_%20_activity_%20_(GO:0008009)_%7C_CXCR3_%20_chemokine_%20_receptor_%20_binding_%20_(GO:0048248)_%7C_heparin_%20_binding_%20_(GO:0008201)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 87812672 exm411464 A G . PASS FUNCOTATION=[C4orf36|hg19|chr4|87812672|87812672|START_CODON_SNP||SNP|A|A|G|g.chr4:87812672A>G|ENST00000473559.1|-|5|666|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.3940149625935162|TCCATACGCCATGGTGAGTTA|C4orf36_ENST00000295898.3_START_CODON_SNP_p.M1T/C4orf36_ENST00000503001.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC016746|||HGNC:28386|chromosome_%20_4_%20_open_%20_reading_%20_frame_%20_36|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC26744||4q21.3|2016-09-30|||BC016746||132989|ENSG00000163633|12477932|NM_144645|||CCDS3615|OTTHUMG00000130597|132989||NM_144645|Q96KX1|ENSG00000163633|uc062xzo.1|CD036_HUMAN|||Q96KX1|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 88416233 exm411973 G A . PASS FUNCOTATION=[SPARCL1|hg19|chr4|88416233|88416233|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr4:88416233G>A|ENST00000503414.1|-|4|||||0.3117206982543641|AGGTGCTACCGTTTCAGCAGT|SPARCL1_ENST00000282470.6_MISSENSE_p.T34M/SPARCL1_ENST00000418378.1_MISSENSE_p.T34M|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AK304494|||HGNC:11220|SPARC_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"SPARC-like_%20_1_%20_(mast9_%2C__%20_hevin)"|MAST9|"hevin"|4q22.1|2016-10-05||2015-11-13|X86693||8404|ENSG00000152583|8488563_%2C__%20_7600298_%2C__%20_16844696||1278|SPARC_%20_family|CCDS3622_%2C__%20_CCDS77939|OTTHUMG00000130605|8404|606041|NM_001128310|Q14515|ENSG00000152583|uc003hqs.5|SPRL1_HUMAN||B4E2Z0_%7C_E7ESU2_%7C_Q14800|Q14515|signal_%20_transduction_%20_(GO:0007165)|extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_proteinaceous_%20_extracellular_%20_matrix_%20_(GO:0005578)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 90830509 variant.82032 G T . PASS FUNCOTATION=[MMRN1|hg19|chr4|90830509|90830509|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr4:90830509G>T|ENST00000508372.1|+|2|||||0.3566084788029925|AGGTGGGAAAGGACCTTGTGG|MMRN1_ENST00000394980.1_NONSENSE_p.G236*/MMRN1_ENST00000264790.2_NONSENSE_p.G236*/MMRN1_ENST00000394981.1_NONSENSE_p.G202*|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(3)_%7C_oesophagus(4)_%7C_pancreas(22)|||||||AC093759|||HGNC:7178|multimerin_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MMRN|"multimerin"|ECM_%2C__%20_EMILIN4_%2C__%20_GPIa*|"glycoprotein_%20_Ia*"|4q22.1|2016-10-05|2004-03-02|2004-03-02|U27109||22915|ENSG00000138722|7629143_%2C__%20_10828608|NM_007351|540|EMI_%20_domain_%20_containing|CCDS3635|OTTHUMG00000130947|22915|601456|NM_007351|Q13201|ENSG00000138722|uc003hst.4|MMRN1_HUMAN||Q4W5L1_%7C_Q6P3T8_%7C_Q6ZUL9|Q13201|blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_adhesion_%20_(GO:0007155)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_platelet_%20_degranulation_%20_(GO:0002576)|extracellular_%20_region_%20_(GO:0005576)_%7C_platelet_%20_alpha_%20_granule_%20_lumen_%20_(GO:0031093)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 111434635 indel.82436 A ACG . PASS FUNCOTATION=[ENPEP|hg19|chr4|111434635|111434636|FRAME_SHIFT_INS||INS|-|-|CG|g.chr4:111434635_111434636insCG|ENST00000265162.5|+|7|1715|c.1373_1374insCG|c.(1372-1374)catfs|p.P459fs|0.325|TGTCTTCGCATCCAATTATT|RP11-380D23.1_ENST00000503998.1_RNA|||||||||||||||||||||||||154|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||L14721|NM_001977.3|NP_001968.3|HGNC:3355|glutamyl_%20_aminopeptidase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"glutamyl_%20_aminopeptidase_%20_(aminopeptidase_%20_A)"|gp160_%2C__%20_CD249||4q25|2016-01-06||2016-01-06|L12468|3.4.11.7|2028|ENSG00000138792|9268642||471_%7C_1437_%7C_104|CD_%20_molecules_%7C_M1_%20_metallopeptidases_%7C_Aminopeptidases|CCDS3691|OTTHUMG00000132546|2028|138297|NM_001977|Q07075|ENSG00000138792|uc003iab.5|AMPE_HUMAN||Q504U2|Q07075|angiogenesis_%20_(GO:0001525)_%7C_angiotensin_%20_catabolic_%20_process_%20_in_%20_blood_%20_(GO:0002005)_%7C_angiotensin_%20_maturation_%20_(GO:0002003)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_cell-cell_%20_signaling_%20_(GO:0007267)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_glomerulus_%20_development_%20_(GO:0032835)_%7C_regulation_%20_of_%20_systemic_%20_arterial_%20_blood_%20_pressure_%20_by_%20_renin-angiotensin_%20_(GO:0003081)|apical_%20_part_%20_of_%20_cell_%20_(GO:0045177)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_brush_%20_border_%20_(GO:0005903)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_plasma_%20_membrane_%20_(GO:0005886)|aminopeptidase_%20_activity_%20_(GO:0004177)_%7C_metalloaminopeptidase_%20_activity_%20_(GO:0070006)_%7C_metallopeptidase_%20_activity_%20_(GO:0008237)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 122747017 exm422046 A G . PASS FUNCOTATION=[BBS7|hg19|chr4|122747017|122747017|NONSTOP||SNP|A|A|G|g.chr4:122747017A>G|ENST00000264499.4|-|19|2330|c.2146T>C|c.(2146-2148)Tga>Cga|p.*716R|0.2743142144638404|TTTGTATGTCATGCTGCATCG|CCNA2_ENST00000274026.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)||||Bardet-Biedl_%20_syndrome|BBS_%2C__%20_Bardet-Biedl_%20_syndrome_%2C__%20_type_%20_1-12:_%20_BBS1-12_%2C_Laurence-Moon-Biedl_%20_syndrome|Familial_%20_Cancer_%20_Database|BC032691|NM_176824.2|NP_789794.1|HGNC:18758|Bardet-Biedl_%20_syndrome_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10715_%2C__%20_BBS2L1||4q27|2016-10-25|||AF521644||55212|ENSG00000138686|||980_%7C_1122|Bardet-Biedl_%20_syndrome_%20_associated_%7C_BBSome|CCDS3724_%2C__%20_CCDS54799|OTTHUMG00000133076|55212|607590|NM_018190|Q8IWZ6|ENSG00000138686|uc003ied.4|BBS7_HUMAN||Q4W5P8_%7C_Q8N581_%7C_Q9NVI4|Q8IWZ6|brain_%20_development_%20_(GO:0007420)_%7C_cilium_%20_morphogenesis_%20_(GO:0060271)_%7C_determination_%20_of_%20_left/right_%20_symmetry_%20_(GO:0007368)_%7C_digestive_%20_tract_%20_morphogenesis_%20_(GO:0048546)_%7C_eye_%20_development_%20_(GO:0001654)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_heart_%20_looping_%20_(GO:0001947)_%7C_limb_%20_development_%20_(GO:0060173)_%7C_melanosome_%20_transport_%20_(GO:0032402)_%7C_nonmotile_%20_primary_%20_cilium_%20_assembly_%20_(GO:0035058)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_pigment_%20_granule_%20_aggregation_%20_in_%20_cell_%20_center_%20_(GO:0051877)_%7C_positive_%20_regulation_%20_of_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0032436)_%7C_protein_%20_transport_%20_(GO:0015031)_%7C_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006357)_%7C_smoothened_%20_signaling_%20_pathway_%20_(GO:0007224)_%7C_visual_%20_perception_%20_(GO:0007601)|axoneme_%20_(GO:0005930)_%7C_BBSome_%20_(GO:0034464)_%7C_centrosome_%20_(GO:0005813)_%7C_ciliary_%20_basal_%20_body_%20_(GO:0036064)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|RNA_%20_polymerase_%20_II_%20_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0001103)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 126370567 indel.82760 A AC . PASS FUNCOTATION=[FAT4|hg19|chr4|126370567|126370568|FRAME_SHIFT_INS||INS|-|-|C|g.chr4:126370567_126370568insC|ENST00000394329.3|+|9|8409|c.8396_8397insC|c.(8395-8397)gaafs|p.E2799fs|0.385|CTTCTGATGAAGACATTGGG|FAT4_ENST00000335110.5_FRAME_SHIFT_INS_p.E1097fs|||||||||||||||||||||||||1246|biliary_tract(27)_%7C_breast(15)_%7C_central_nervous_system(44)_%7C_cervix(15)_%7C_haematopoietic_and_lymphoid_tissue(584)_%7C_large_intestine(206)_%7C_lung(106)_%7C_pancreas(26)_%7C_pituitary(4)_%7C_skin(3)_%7C_stomach(95)_%7C_upper_aerodigestive_tract(121)|||||||AY356402|NM_024582.4|NP_078858.4|HGNC:23109|FAT_%20_atypical_%20_cadherin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"FAT_%20_tumor_%20_suppressor_%20_homolog_%20_4_%20_(Drosophila)"|CDHF14_%2C__%20_FAT-J_%2C__%20_CDHR11|"cadherin-related_%20_family_%20_member_%20_11"|4q28.1|2015-09-01||2013-05-31|AY356402||79633|ENSG00000196159|15003449|NM_024582|24|Cadherin_%20_related|CCDS3732|OTTHUMG00000133100|79633|612411|NM_001291285|Q6V0I7|ENSG00000196159|uc003ifj.5|FAT4_HUMAN||A8K5Z6_%7C_B5MDG4_%7C_Q3LIA6_%7C_Q8TCK7_%7C_Q9H5T6|Q6V0I7|branching_%20_involved_%20_in_%20_ureteric_%20_bud_%20_morphogenesis_%20_(GO:0001658)_%7C_cerebral_%20_cortex_%20_development_%20_(GO:0021987)_%7C_digestive_%20_tract_%20_development_%20_(GO:0048565)_%7C_heart_%20_morphogenesis_%20_(GO:0003007)_%7C_heterophilic_%20_cell-cell_%20_adhesion_%20_(GO:0007157)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_homophilic_%20_cell_%20_adhesion_%20_(GO:0007156)_%7C_inner_%20_ear_%20_receptor_%20_stereocilium_%20_organization_%20_(GO:0060122)_%7C_neurogenesis_%20_(GO:0022008)_%7C_ossification_%20_involved_%20_in_%20_bone_%20_maturation_%20_(GO:0043931)_%7C_plasma_%20_membrane_%20_organization_%20_(GO:0007009)_%7C_regulation_%20_of_%20_metanephric_%20_nephron_%20_tubule_%20_epithelial_%20_cell_%20_differentiation_%20_(GO:0072307)|apical_%20_part_%20_of_%20_cell_%20_(GO:0045177)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 128651703 exm423993 G T . PASS FUNCOTATION=[SLC25A31|hg19|chr4|128651703|128651703|START_CODON_SNP||SNP|G|G|T|g.chr4:128651703G>T|ENST00000281154.4|+|1|171|c.3G>T|c.(1-3)atG>atT|p.M1I|0.6134663341645885|TCTCCATCATGCATCGTGAGC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471056|NM_031291.2|NP_112581.1|HGNC:25319|solute_%20_carrier_%20_family_%20_25_%20_member_%20_31|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_25_%20_(mitochondrial_%20_carrier_%3B__%20_adenine_%20_nucleotide_%20_translocator)_%2C__%20_member_%20_31"|DKFZP434N1235_%2C__%20_ANT4||4q28.1|2016-10-05||2016-02-18|AL136857||83447|ENSG00000151475|15670820|NM_031291|752|Solute_%20_carriers|CCDS3733|OTTHUMG00000133300|83447|610796|NM_001318467|Q9H0C2|ENSG00000151475|uc003ifl.4|ADT4_HUMAN|||Q9H0C2|transmembrane_%20_transport_%20_(GO:0055085)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrion_%20_(GO:0005739)_%7C_motile_%20_cilium_%20_(GO:0031514)_%7C_nucleus_%20_(GO:0005634)|transporter_%20_activity_%20_(GO:0005215)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 129805634 exm424582 A G . PASS FUNCOTATION=[SCLT1|hg19|chr4|129805634|129805634|NONSTOP||SNP|A|A|G|g.chr4:129805634A>G|ENST00000281142.5|-|21|2569|c.2065T>C|c.(2065-2067)Taa>Caa|p.*689Q|0.3341645885286783|GAATATTTTTAAATATTTTCC|SCLT1_ENST00000503215.1_NONSTOP_p.*285Q/SCLT1_ENST00000439369.2_NONSTOP_p.*176Q/SCLT1_ENST00000434680.1_NONSTOP_p.*308Q/SCLT1_ENST00000502495.1_INTRON|||||||||||||||||||||||||523|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_large_intestine(12)_%7C_lung(134)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||CH471056|NM_144643.2|NP_653244.2|HGNC:26406|sodium_%20_channel_%20_and_%20_clathrin_%20_linker_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||hCAP-1A_%2C__%20_FLJ30655||4q28.2|2014-11-19|||AK055217||132320|ENSG00000151466|15797711|NM_144643|||CCDS3740_%2C__%20_CCDS77957_%2C__%20_CCDS77958|OTTHUMG00000133346|132320|611399|NM_001300897|Q96NL6|ENSG00000151466|uc003igp.3|SCLT1_HUMAN||A4QN04_%7C_Q0VAH2_%7C_Q6P2M4|Q96NL6|cilium_%20_assembly_%20_(GO:0042384)_%7C_clustering_%20_of_%20_voltage-gated_%20_sodium_%20_channels_%20_(GO:0045162)|centriole_%20_(GO:0005814)_%7C_centrosome_%20_(GO:0005813)_%7C_ciliary_%20_transition_%20_fiber_%20_(GO:0097539)_%7C_clathrin_%20_complex_%20_(GO:0071439)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_microtubule_%20_cytoskeleton_%20_(GO:0015630)|sodium_%20_channel_%20_regulator_%20_activity_%20_(GO:0017080)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 130032945 exm424717 A G . PASS FUNCOTATION=[C4orf33|hg19|chr4|130032945|130032945|NONSTOP||SNP|A|A|G|g.chr4:130032945A>G|ENST00000281146.5|+|6|1320|c.599A>G|c.(598-600)tAg>tGg|p.*200W|0.30174563591022446|TGTGATATATAGGAGTAATAG|C4orf33_ENST00000425929.1_NONSTOP_p.*200W|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471056|NM_173487.2|NP_775758.2|HGNC:27025|chromosome_%20_4_%20_open_%20_reading_%20_frame_%20_33|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ33703||4q28.2|2016-09-30|||AK091022||132321|ENSG00000151470|12477932|NM_173487|||CCDS3741|OTTHUMG00000133347|132321||NM_001099783|Q8N1A6|ENSG00000151470|uc003igu.5|CD033_HUMAN||D3DNY2_%7C_Q6PJF3_%7C_Q8NBC5|Q8N1A6|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 144618679 indel.82923 A AC . PASS FUNCOTATION=[FREM3|hg19|chr4|144618679|144618680|FRAME_SHIFT_INS||INS|-|-|C|g.chr4:144618679_144618680insC|ENST00000329798.5|-|1|3150|c.3149_3150insG|c.(3148-3150)aatfs|p.N1050fs|0.4775|TATTATGCTATTCCCCACTA|RP13-578N3.3_ENST00000499587.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AC139713|NM_001168235.1|NP_001161707.1|HGNC:25172|FRAS1_%20_related_%20_extracellular_%20_matrix_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||4q31.21|2015-09-11|||BX091796||166752|ENSG00000183090|15345741|XM_094074|||CCDS54808|OTTHUMG00000161577|166752|608946|NM_001168235|P0C091|ENSG00000183090|uc021xsj.2|FREM3_HUMAN|||P0C091|cell_%20_adhesion_%20_(GO:0007155)_%7C_cell_%20_communication_%20_(GO:0007154)|basement_%20_membrane_%20_(GO:0005604)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 152212603 exm428580 T G . PASS FUNCOTATION=[PRSS48|hg19|chr4|152212603|152212603|NONSTOP||SNP|T|T|G|g.chr4:152212603T>G|ENST00000455694.2|+|5|987|c.985T>G|c.(985-987)Taa>Gaa|p.*329E|0.42144638403990026|CAGGGGCAGATAACTCACAGG|PRSS48_ENST00000441586.2_NONSTOP_p.*186E/SH3D19_ENST00000604030.1_INTRON|||||||||||||||||||||||||67|breast(32)_%7C_large_intestine(35)|||||||BN000134|NM_183375.2|NP_899231.2|HGNC:24635|protease_%2C__%20_serine_%20_48|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ESSPL||4q31.3|2015-11-16||2015-11-16|BN000134||345062|ENSG00000189099|12838346|NM_183375|738|Proteases_%2C__%20_serine|CCDS47145|OTTHUMG00000161673|345062||NM_183375|Q7RTY5|ENSG00000189099|uc011cif.3|PRS48_HUMAN||Q08E82_%7C_Q0VAD4|Q7RTY5||extracellular_%20_region_%20_(GO:0005576)|serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 155407595 exm430189 C A . PASS FUNCOTATION=[DCHS2|hg19|chr4|155407595|155407595|NONSTOP||SNP|C|C|A|g.chr4:155407595C>A|ENST00000456341.2|-|2|2109|c.2109G>T|c.(2107-2109)taG>taT|p.*703Y|0.4139650872817955|TACAGGAAATCTAGGCAAGAT|DCHS2_ENST00000339452.1_INTRON/DCHS2_ENST00000443500.1_NONSTOP_p.*710Y|||||||||||||||||||||||||485|biliary_tract(2)_%7C_breast(13)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(104)_%7C_large_intestine(197)_%7C_lung(103)_%7C_pancreas(22)|||||||AY354498|||HGNC:23111|dachsous_%20_cadherin-related_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CDH27_%2C__%20_PCDH23|"cadherin-like_%20_27"_%2C__%20_"dachsous_%20_2_%20_(Drosophila)"|CDHJ_%2C__%20_FLJ20047_%2C__%20_PCDHJ_%2C__%20_CDHR7|"cadherin-related_%20_family_%20_member_%20_7"|4q31.3|2016-10-05|2004-09-03|2013-10-04|BC140919||54798|ENSG00000197410|15003449|NM_001142552|24|Cadherin_%20_related|CCDS3785_%2C__%20_CCDS47150|OTTHUMG00000161556|54798|612486|NM_001142552|Q6V1P9|ENSG00000197410|uc003inw.2|PCD23_HUMAN||B2RU14_%7C_E9PC11_%7C_Q4W5P9_%7C_Q6ZS61_%7C_Q9NXU8|Q6V1P9|homophilic_%20_cell_%20_adhesion_%20_(GO:0007156)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 156274490 indel.83213 T TC . PASS FUNCOTATION=[MAP9|hg19|chr4|156274490|156274491|FRAME_SHIFT_INS||INS|-|-|C|g.chr4:156274490_156274491insC|ENST00000311277.4|-|11|1647|c.1382_1383insG|c.(1381-1383)aaafs|p.A463fs|0.2825|AGCAGCTTTTTTCTACAGTG|MAP9_ENST00000515654.1_FRAME_SHIFT_INS_p.A439fs/AC097467.2_ENST00000608463.1_RNA/AC097467.2_ENST00000610249.1_RNA/AC097467.2_ENST00000593387.2_RNA/AC097467.2_ENST00000609716.1_RNA/AC097467.2_ENST00000609486.1_RNA/AC097467.2_ENST00000598252.1_RNA/AC097467.2_ENST00000608544.1_RNA/AC097467.2_ENST00000609254.1_RNA/AC097467.2_ENST00000608092.1_RNA/AC097467.2_ENST00000597939.1_RNA/AC097467.2_ENST00000608406.1_RNA/AC097467.2_ENST00000601977.1_RNA/AC097467.2_ENST00000608762.1_RNA/AC097467.2_ENST00000417474.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000594492.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000594666.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000596165.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000596754.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000597831.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000598890.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000600928.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR749274|NM_001039580.1|NP_001034669.1|HGNC:26118|microtubule_%20_associated_%20_protein_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ASAP_%2C__%20_FLJ21159|"aster-associated_%20_protein"|4q32.1|2015-11-16||2015-11-16|AK024812||79884|ENSG00000164114|16049101|NM_001039580|||CCDS35493|OTTHUMG00000133628|79884|610070|NM_001039580|Q49MG5|ENSG00000164114|uc003ios.4|MAP9_HUMAN||Q4W5I7_%7C_Q68DU1_%7C_Q9H781_%7C_Q9H7B6|Q49MG5|cytokinesis_%20_(GO:0000910)_%7C_regulation_%20_of_%20_mitosis_%20_(GO:0007088)_%7C_spindle_%20_assembly_%20_involved_%20_in_%20_mitosis_%20_(GO:0090307)|astral_%20_microtubule_%20_(GO:0000235)_%7C_mitotic_%20_spindle_%20_midzone_%20_(GO:1990023)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 169279300 exm433315 A G . PASS FUNCOTATION=[DDX60L|hg19|chr4|169279300|169279300|NONSTOP||SNP|A|A|G|g.chr4:169279300A>G|ENST00000511577.1|-|38|5367|c.5119T>C|c.(5119-5121)Taa>Caa|p.*1707Q|0.2892768079800499|CCATGGTGTTATTCTAAATGA|DDX60L_ENST00000260184.7_NONSTOP_p.*1707Q|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CR933601|||HGNC:26429|DExD/H-box_%20_60_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DEAD_%20_(Asp-Glu-Ala-Asp)_%20_box_%20_polypeptide_%20_60-like"|FLJ31033||4q32.3|2017-09-12||2017-09-12|AK092461||91351|ENSG00000181381|26269178|NM_001012967|1559|Ski2_%20_like_%20_RNA_%20_helicases|CCDS47161|OTTHUMG00000161412|91351|616725|NM_001012967|Q5H9U9|ENSG00000181381|uc003irq.5|DDX6L_HUMAN||Q96ND6|Q5H9U9|||ATP_%20_binding_%20_(GO:0005524)_%7C_helicase_%20_activity_%20_(GO:0004386)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 184633795 exm436211 T C . PASS FUNCOTATION=[TRAPPC11|hg19|chr4|184633795|184633795|NONSTOP||SNP|T|T|C|g.chr4:184633795T>C|ENST00000334690.6|+|30|3602|c.3400T>C|c.(3400-3402)Tga>Cga|p.*1134R|0.3316708229426434|TGCTGCTGCATGATGTTCAAG|TRAPPC11_ENST00000512476.1_NONSTOP_p.*740R/TRAPPC11_ENST00000357207.4_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||CR533553|NM_021942.5|NP_068761.4|HGNC:25751|trafficking_%20_protein_%20_particle_%20_complex_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C4orf41|"chromosome_%20_4_%20_open_%20_reading_%20_frame_%20_41"|FLJ12716_%2C__%20_gry_%2C__%20_foigr|"gryzun_%20_homolog_%20_(Drosophila)"_%2C__%20_"foie_%20_gras_%20_homolog_%20_(zebrafish)"|4q35.1|2014-11-19|2011-12-12|2011-12-12|||60684|ENSG00000168538|19942856_%2C__%20_21525244|NM_021942|772|Trafficking_%20_protein_%20_particle_%20_complex|CCDS34112_%2C__%20_CCDS47166|OTTHUMG00000160673|60684|614138|NM_021942|Q7Z392|ENSG00000168538|uc003ivx.4|TPC11_HUMAN||A4QPB8_%7C_B2RCD6_%7C_Q5U5I7_%7C_Q6FI73_%7C_Q86T25_%7C_Q9H0L1_%7C_Q9H5K9_%7C_Q9H8Q1_%7C_Q9H9I7|Q7Z392|vesicle-mediated_%20_transport_%20_(GO:0016192)|Golgi_%20_apparatus_%20_(GO:0005794)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 185655214 exm436696 C T . PASS FUNCOTATION=[MLF1IP|hg19|chr4|185655214|185655214|START_CODON_SNP||SNP|C|C|T|g.chr4:185655214C>T|ENST00000281453.5|-|1|74|c.3G>A|c.(1-3)atG>atA|p.M1I|0.7007481296758105|CCCGCGGGGCCATGGTGCCGC|MLF1IP_ENST00000541971.1_START_CODON_SNP_p.M1I|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR457376|NM_024629.3|NP_078905.2||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 10235354 indel.84117 G GC . PASS FUNCOTATION=[FAM173B|hg19|chr5|10235354|10235355|FRAME_SHIFT_INS||INS|-|-|C|g.chr5:10235354_10235355insC|ENST00000511437.1|-|4|477|c.463_464insG|c.(463-465)tcgfs|p.S155fs|0.42|ACAACGTTCGAGTACTGCGA|FAM173B_ENST00000510047.1_INTRON/FAM173B_ENST00000280330.8_FIVE_PRIME_UTR/FAM173B_ENST00000510052.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471102|NM_199133.3|NP_954584.2|HGNC:27029|family_%20_with_%20_sequence_%20_similarity_%20_173_%20_member_%20_B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"family_%20_with_%20_sequence_%20_similarity_%20_173_%2C__%20_member_%20_B"|JS-2||5p15.2|2017-01-04||2015-11-18|||134145|ENSG00000150756|12477932|NM_199133|1400|Seven-beta-strand_%20_methyltransferase_%20_motif_%20_containing|CCDS43301_%2C__%20_CCDS58942|OTTHUMG00000161771|134145||NM_001258388|Q6P4H8|ENSG00000150756|uc003jeo.4|F173B_HUMAN||B4DT41_%7C_B4DXK2_%7C_E9PBZ4|Q6P4H8||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 33441193 exm448264 A G . PASS FUNCOTATION=[TARS|hg19|chr5|33441193|33441193|START_CODON_SNP||SNP|A|A|G|g.chr5:33441193A>G|ENST00000455217.2|+|1|123|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6583541147132169|TCGTTCGCCAATGTTTGAGGA|TARS_ENST00000265112.3_START_CODON_SNP_p.M1V/TARS_ENST00000502553.1_START_CODON_SNP_p.M1V/TARS_ENST00000414361.2_FIVE_PRIME_UTR/TARS_ENST00000541634.1_FIVE_PRIME_UTR/CTD-2203K17.1_ENST00000507251.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M63180|NM_001258438.1|NP_001245367.1|HGNC:11572|threonyl-tRNA_%20_synthetase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||||"threonine_%20_tRNA_%20_ligase_%20_1_%2C__%20_cytoplasmic"|5p13.3|2016-10-05|||AK095852|6.1.1.3|6897|ENSG00000113407||NM_152295|132|Aminoacyl_%20_tRNA_%20_synthetases_%2C__%20_Class_%20_II|CCDS3899_%2C__%20_CCDS58943|OTTHUMG00000090683|6897|187790|NM_001258437|P26639|ENSG00000113407|uc003jhy.5|SYTC_HUMAN|L-Threonine(DB00156)|A8K8I1_%7C_B4DEG8_%7C_Q96FP5_%7C_Q9BWA6|P26639|gene_%20_expression_%20_(GO:0010467)_%7C_threonyl-tRNA_%20_aminoacylation_%20_(GO:0006435)_%7C_translation_%20_(GO:0006412)_%7C_tRNA_%20_aminoacylation_%20_for_%20_protein_%20_translation_%20_(GO:0006418)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|ATP_%20_binding_%20_(GO:0005524)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_threonine-tRNA_%20_ligase_%20_activity_%20_(GO:0004829)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 36227619 exm450129 T C . PASS FUNCOTATION=[NADK2|hg19|chr5|36227619|36227619|DE_NOVO_START_OUT_FRAME||SNP|T|T|C|g.chr5:36227619T>C|ENST00000506945.1|-|2|||||0.2817955112219451|TTGGTGTGAATATGATGTCGT|NADK2_ENST00000381937.4_MISSENSE_p.I117V/NADK2_ENST00000397338.1_DE_NOVO_START_OUT_FRAME/NADK2_ENST00000282512.3_DE_NOVO_START_OUT_FRAME/NADK2_ENST00000514504.1_MISSENSE_p.I117V|||||||||||||||||||||||||||||||||BC032912|||HGNC:26404|NAD_%20_kinase_%20_2_%2C__%20_mitochondrial|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C5orf33_%2C__%20_NADKD1|"chromosome_%20_5_%20_open_%20_reading_%20_frame_%20_33"_%2C__%20_"NAD_%20_kinase_%20_domain_%20_containing_%20_1"|FLJ30596_%2C__%20_MNADK|"mitochondrial_%20_NAD_%20_kinase"|5p13.2|2016-01-27|2013-04-30|2013-04-30|BC062567|2.7.1.23|133686|ENSG00000152620|23616928|NM_153013|||CCDS3917_%2C__%20_CCDS47197_%2C__%20_CCDS75235|OTTHUMG00000131105|133686|615787|NM_001085411|Q4G0N4|ENSG00000152620||NAKD2_HUMAN||B5MC93_%7C_Q6UTX5_%7C_Q96NM0|Q4G0N4|NAD_%20_metabolic_%20_process_%20_(GO:0019674)_%7C_NADP_%20_biosynthetic_%20_process_%20_(GO:0006741)|mitochondrion_%20_(GO:0005739)|ATP_%20_binding_%20_(GO:0005524)_%7C_NAD+_%20_kinase_%20_activity_%20_(GO:0003951)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 43388500 exm453467 A T . PASS FUNCOTATION=[CCL28|hg19|chr5|43388500|43388500|START_CODON_SNP||SNP|A|A|T|g.chr5:43388500A>T|ENST00000513525.1|-|2|309|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.4239401496259352|GATGCGACACATATTCACTCT|CCL28_ENST00000361115.4_MISSENSE_p.M48K/CCL28_ENST00000537013.1_MISSENSE_p.M48K|Esophageal_%20_Squamous(178_%3B_1549_%20_1997_%20_2043_%20_22794_%20_27051)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471119|||HGNC:17700|C-C_%20_motif_%20_chemokine_%20_ligand_%20_28|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"chemokine_%20_(C-C_%20_motif)_%20_ligand_%20_28"|SCYA28_%2C__%20_MEC_%2C__%20_CCK1|"CC_%20_chemokine_%20_CCL28"_%2C__%20_"mucosae-associated_%20_epithelial_%20_chemokine"_%2C__%20_"small_%20_inducible_%20_cytokine_%20_subfamily_%20_A_%20_(Cys-Cys)_%2C__%20_member_%20_28"_%2C__%20_"small_%20_inducible_%20_cytokine_%20_A28"|5p12|2016-03-01||2016-03-01|AF110384||56477|ENSG00000151882|10781587_%2C__%20_11295038|NM_148672|542_%7C_483|Endogenous_%20_ligands_%7C_Chemokine_%20_ligands|CCDS3944_%2C__%20_CCDS78006|OTTHUMG00000094811|56477|605240|NM_001301873|Q9NRJ3|ENSG00000151882|uc003jnu.4|CCL28_HUMAN||D7RIE7|Q9NRJ3|cell_%20_chemotaxis_%20_(GO:0060326)_%7C_chemotaxis_%20_(GO:0006935)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_negative_%20_regulation_%20_of_%20_leukocyte_%20_tethering_%20_or_%20_rolling_%20_(GO:1903237)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_cytosolic_%20_calcium_%20_ion_%20_concentration_%20_(GO:0007204)_%7C_response_%20_to_%20_nutrient_%20_(GO:0007584)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|chemokine_%20_activity_%20_(GO:0008009)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 43656769 indel.84762 G GT . PASS FUNCOTATION=[NNT|hg19|chr5|43656769|43656770|FRAME_SHIFT_INS||INS|-|-|T|g.chr5:43656769_43656770insT|ENST00000264663.5|+|16|2529|c.2308_2309insT|c.(2308-2310)gccfs|p.A770fs|0.415|CTGAAATCTGCCCCTCTCCT|NNT_ENST00000344920.4_FRAME_SHIFT_INS_p.A770fs/NNT_ENST00000512996.2_FRAME_SHIFT_INS_p.A639fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z50101|NM_012343.3|NP_036475.3|HGNC:7863|nicotinamide_%20_nucleotide_%20_transhydrogenase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||5p12|2014-11-19|||U40490|1.6.1.1|23530|ENSG00000112992|9271681_%2C__%20_9524818|NM_182977|||CCDS3949_%2C__%20_CCDS82994|OTTHUMG00000096961|23530|607878|NM_012343|Q13423|ENSG00000112992|uc003joe.4|NNTM_HUMAN||Q16796_%7C_Q2TB60_%7C_Q8N3V4|Q13423|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_hydrogen_%20_ion_%20_transmembrane_%20_transport_%20_(GO:1902600)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_proton_%20_transport_%20_(GO:0015992)_%7C_reactive_%20_oxygen_%20_species_%20_metabolic_%20_process_%20_(GO:0072593)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_tricarboxylic_%20_acid_%20_cycle_%20_(GO:0006099)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_(GO:0005746)_%7C_mitochondrion_%20_(GO:0005739)|NAD_%20_binding_%20_(GO:0051287)_%7C_NAD(P)+_%20_transhydrogenase_%20_(AB-specific)_%20_activity_%20_(GO:0008750)_%7C_NAD(P)+_%20_transhydrogenase_%20_(B-specific)_%20_activity_%20_(GO:0003957)_%7C_NAD(P)+_%20_transhydrogenase_%20_activity_%20_(GO:0008746)_%7C_NADP_%20_binding_%20_(GO:0050661)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 44809066 exm453799 T C . PASS FUNCOTATION=[MRPS30|hg19|chr5|44809066|44809066|START_CODON_SNP||SNP|T|T|C|g.chr5:44809066T>C|ENST00000507110.1|+|1|40|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.5910224438902744|CGGGCAAAGATGGCGGCGGCC|RP11-53O19.1_ENST00000503179.1_FIVE_PRIME_FLANK/RP11-53O19.1_ENST00000503452.1_FIVE_PRIME_FLANK/RP11-53O19.1_ENST00000505302.1_FIVE_PRIME_FLANK/RP11-53O19.1_ENST00000505401.1_FIVE_PRIME_FLANK/RP11-53O19.1_ENST00000505637.1_FIVE_PRIME_FLANK/RP11-53O19.1_ENST00000508123.1_FIVE_PRIME_FLANK/RP11-53O19.1_ENST00000508945.1_FIVE_PRIME_FLANK/RP11-53O19.1_ENST00000514597.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||184|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||BC007735|NM_016640.3|NP_057724.2|HGNC:8769|mitochondrial_%20_ribosomal_%20_protein_%20_S30|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PDCD9||PAP||5p12|2016-10-05|2001-11-09||AF146192||10884|ENSG00000112996|10640817_%2C__%20_11279123|NM_016640|646|Mitochondrial_%20_ribosomal_%20_proteins|CCDS3951|OTTHUMG00000096967|10884|611991|NM_016640|Q9NP92|ENSG00000112996|uc003joh.4|RT30_HUMAN||Q96I91_%7C_Q96Q19_%7C_Q9H0P8_%7C_Q9NSF9_%7C_Q9NZ76|Q9NP92|apoptotic_%20_process_%20_(GO:0006915)_%7C_translation_%20_(GO:0006412)|mitochondrion_%20_(GO:0005739)_%7C_ribosome_%20_(GO:0005840)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_structural_%20_constituent_%20_of_%20_ribosome_%20_(GO:0003735)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 54329752 indel.84832 TAA T . PASS FUNCOTATION=[GZMK|hg19|chr5|54329753|54329754|NONSTOP||DEL|AA|AA|-|g.chr5:54329753_54329754delAA|ENST00000231009.2|+|5|863_864|c.794_795delAA|c.(793-795)taafs|p.*265fs|0.39800995024875624|CATACAAATTAAGTTACAAATA|CTD-2313F11.1_ENST00000609699.1_RNA/CTD-2313F11.1_ENST00000595218.1_RNA/CTD-2313F11.1_ENST00000596137.1_FIVE_PRIME_FLANK/CTD-2313F11.1_ENST00000609792.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U35237|NM_002104.2|NP_002095.1|HGNC:4711|granzyme_%20_K|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"granzyme_%20_K_%20_(serine_%20_protease_%2C__%20_granzyme_%20_3_%3B__%20_tryptase_%20_II)"_%2C__%20_"granzyme_%20_K_%20_(granzyme_%20_3_%3B__%20_tryptase_%20_II)"|TRYP2_%2C__%20_PRSS|"tryptase_%20_II"|5q11.2|2015-11-16||2015-11-16|BC035802||3003|ENSG00000113088|7758581|NM_002104|||CCDS3964|OTTHUMG00000097009|3003|600784|NM_002104|P49863|ENSG00000113088|uc003jpl.2|GRAK_HUMAN||B2R563|P49863||extracellular_%20_region_%20_(GO:0005576)|serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)_%7C_serine-type_%20_peptidase_%20_activity_%20_(GO:0008236)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 76342200 indel.85335 T TA . PASS FUNCOTATION=[AGGF1|hg19|chr5|76342200|76342201|FRAME_SHIFT_INS||INS|-|-|A|g.chr5:76342200_76342201insA|ENST00000312916.7|+|6|1281|c.899_900insA|c.(898-900)ttcfs|p.F300fs|0.3725|AAAAAGCCTTCAGTGTTGAA||||||||||||||||||||||||||140|biliary_tract(27)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_upper_aerodigestive_tract(1)|||||||U84971|NM_018046.4|NP_060516.2|HGNC:24684|angiogenic_%20_factor_%20_with_%20_G-patch_%20_and_%20_FHA_%20_domains_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||VG5Q_%2C__%20_HSU84971_%2C__%20_FLJ10283_%2C__%20_GPATC7_%2C__%20_GPATCH7||5q13.3|2015-11-13||2015-11-13|AK001145||55109|ENSG00000164252|18564129_%2C__%20_17103452|NM_018046|579|G-patch_%20_domain_%20_containing|CCDS4035|OTTHUMG00000102132|55109|608464|NM_018046|Q8N302|ENSG00000164252|uc003ket.4|AGGF1_HUMAN||O00581_%7C_Q53YS3_%7C_Q9BU84_%7C_Q9NW66|Q8N302|angiogenesis_%20_(GO:0001525)_%7C_cell_%20_adhesion_%20_(GO:0007155)_%7C_positive_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0045766)_%7C_positive_%20_regulation_%20_of_%20_endothelial_%20_cell_%20_proliferation_%20_(GO:0001938)_%7C_RNA_%20_processing_%20_(GO:0006396)_%7C_vasculogenesis_%20_(GO:0001570)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)|nucleic_%20_acid_%20_binding_%20_(GO:0003676)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 94785984 exm467542 T C . PASS FUNCOTATION=[FAM81B|hg19|chr5|94785984|94785984|NONSTOP||SNP|T|T|C|g.chr5:94785984T>C|ENST00000283357.5|+|10|1403|c.1357T>C|c.(1357-1359)Taa>Caa|p.*453Q|0.32418952618453867|CCAGGAAGTATAAACCTTTTC||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC034772|NM_152548.2|NP_689761.2|HGNC:26335|family_%20_with_%20_sequence_%20_similarity_%20_81_%20_member_%20_B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"family_%20_with_%20_sequence_%20_similarity_%20_81_%2C__%20_member_%20_B"|FLJ25333||5q15|2016-09-30||2015-11-18|||153643|ENSG00000153347||NM_152548|||CCDS43341|OTTHUMG00000162837|153643||NM_152548|Q96LP2|ENSG00000153347|uc003kla.2|FA81B_HUMAN|||Q96LP2||nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 101572564 exm469248 A G . PASS FUNCOTATION=[SLCO4C1|hg19|chr5|101572564|101572564|NONSTOP||SNP|A|A|G|g.chr5:101572564A>G|ENST00000310954.6|-|13|2460|c.2173T>C|c.(2173-2175)Tga>Cga|p.*725R|0.3192019950124688|TTCCCATTTCACCCTTCTTTT||||||||||||||||||||||||||211|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)_%7C_urinary_tract(1)|||||||CH471086|NM_180991.4|NP_851322.3|HGNC:23612|solute_%20_carrier_%20_organic_%20_anion_%20_transporter_%20_family_%20_member_%20_4C1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_organic_%20_anion_%20_transporter_%20_family_%2C__%20_member_%20_4C1"|SLC21A20_%2C__%20_OATP4C1_%2C__%20_OATPX_%2C__%20_OATP-H||5q21.1|2016-10-05||2015-11-18|AY273896||353189|ENSG00000173930||NM_180991|752|Solute_%20_carriers|CCDS34205|OTTHUMG00000162757|353189|609013|NM_180991|Q6ZQN7|ENSG00000173930|uc003knm.4|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 101631965 exm469338 A G . PASS FUNCOTATION=[SLCO4C1|hg19|chr5|101631965|101631965|START_CODON_SNP||SNP|A|A|G|g.chr5:101631965A>G|ENST00000310954.6|-|1|289|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6259351620947631|GGCGCTCTTCATGTCTGGATG||||||||||||||||||||||||||211|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)_%7C_urinary_tract(1)|||||||CH471086|NM_180991.4|NP_851322.3|HGNC:23612|solute_%20_carrier_%20_organic_%20_anion_%20_transporter_%20_family_%20_member_%20_4C1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_organic_%20_anion_%20_transporter_%20_family_%2C__%20_member_%20_4C1"|SLC21A20_%2C__%20_OATP4C1_%2C__%20_OATPX_%2C__%20_OATP-H||5q21.1|2016-10-05||2015-11-18|AY273896||353189|ENSG00000173930||NM_180991|752|Solute_%20_carriers|CCDS34205|OTTHUMG00000162757|353189|609013|NM_180991|Q6ZQN7|ENSG00000173930|uc003knm.4|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 115167503 exm472287 A T . PASS FUNCOTATION=[ATG12|hg19|chr5|115167503|115167503|NONSTOP||SNP|A|A|T|g.chr5:115167503A>T|ENST00000509910.1|-|4|727|c.421T>A|c.(421-423)Tga>Aga|p.*141R|0.34413965087281795|TTTGTGGTTCATCCCCACGCC|ATG12_ENST00000500945.2_THREE_PRIME_UTR/ATG12_ENST00000274459.4_NONSTOP_p.*188R/ATG12_ENST00000509598.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC012266|||HGNC:588|autophagy_%20_related_%20_12|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|APG12L|"Apg12_%20_(autophagy_%20_12_%2C__%20_S._%20_cerevisiae)-like"_%2C__%20_"APG12_%20_autophagy_%20_12-like_%20_(S._%20_cerevisiae)"_%2C__%20_"ATG12_%20_autophagy_%20_related_%20_12_%20_homolog_%20_(S._%20_cerevisiae)"|APG12|"APG12_%20_autophagy_%20_12-like"|5q22.3|2016-10-05|2005-09-11|2012-06-06|AB017507||9140|ENSG00000145782|9852036|NM_004707|1022|Autophagy_%20_related|CCDS4122_%2C__%20_CCDS64222|OTTHUMG00000128889|9140|609608|NM_001277783|O94817|ENSG00000145782|uc003krh.4|ATG12_HUMAN||Q6PJV2|O94817|autophagic_%20_vacuole_%20_assembly_%20_(GO:0000045)_%7C_C-terminal_%20_protein_%20_lipidation_%20_(GO:0006501)_%7C_cellular_%20_response_%20_to_%20_nitrogen_%20_starvation_%20_(GO:0006995)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_mitochondrion_%20_degradation_%20_(GO:0000422)_%7C_negative_%20_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032480)_%7C_nucleophagy_%20_(GO:0044804)|Atg12-Atg5-Atg16_%20_complex_%20_(GO:0034274)_%7C_pre-autophagosomal_%20_structure_%20_membrane_%20_(GO:0034045)|Atg8_%20_ligase_%20_activity_%20_(GO:0019776)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 118860923 indel.86141 C CAA . PASS FUNCOTATION=[HSD17B4|hg19|chr5|118860923|118860924|FRAME_SHIFT_INS||INS|-|-|AA|g.chr5:118860923_118860924insAA|ENST00000515320.1|+|17|1541|c.1462_1463insAA|c.(1462-1464)cgcfs|p.R488fs|0.2975|GCTTTGTACCGCCTCAGTGG|HSD17B4_ENST00000509514.1_FRAME_SHIFT_INS_p.R244fs/HSD17B4_ENST00000256216.6_FRAME_SHIFT_INS_p.R506fs/HSD17B4_ENST00000504811.1_FRAME_SHIFT_INS_p.R531fs/HSD17B4_ENST00000510025.1_FRAME_SHIFT_INS_p.R482fs/HSD17B4_ENST00000414835.2_FRAME_SHIFT_INS_p.R366fs/HSD17B4_ENST00000513628.1_FRAME_SHIFT_INS_p.R369fs/HSD17B4_ENST00000522415.1_INTRON|Colon(35_%3B_490_%20_801_%20_34689_%20_41394_%20_43344)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Y11393|NM_001199292.1|NP_001186221.1|HGNC:5213|hydroxysteroid_%20_17-beta_%20_dehydrogenase_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"hydroxysteroid_%20_(17-beta)_%20_dehydrogenase_%20_4"|MFE-2_%2C__%20_DBP_%2C__%20_SDR8C1|"17beta-estradiol_%20_dehydrogenase_%20_type_%20_IV"_%2C__%20_"peroxisomal_%20_multifunctional_%20_protein_%20_2"_%2C__%20_"17-beta-HSD_%20_IV"_%2C__%20_"17-beta-hydroxysteroid_%20_dehydrogenase_%20_4"_%2C__%20_"D-bifunctional_%20_protein_%2C__%20_peroxisomal"_%2C__%20_"D-3-hydroxyacyl-CoA_%20_dehydratase"_%2C__%20_"3-alpha_%2C_7-alpha_%2C_12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA_%20_hydratase"_%2C__%20_"beta-keto-reductase"_%2C__%20_"beta-hydroxyacyl_%20_dehydrogenase"_%2C__%20_"short_%20_chain_%20_dehydrogenase/reductase_%20_family_%20_8C_%2C__%20_member_%20_1"|5q23.1|2016-10-05||2016-06-03||4.2.1.107_%2C__%20_1.1.1.35|3295|ENSG00000133835|8938456_%2C__%20_19027726|NM_000414|743|Short_%20_chain_%20_dehydrogenase/reductase_%20_superfamily|CCDS4126_%2C__%20_CCDS56378_%2C__%20_CCDS56379_%2C__%20_CCDS78051_%2C__%20_CCDS78052|OTTHUMG00000128899|3295|601860|NM_000414|P51659|ENSG00000133835|uc003ksj.4|DHB4_HUMAN||B4DNV1_%7C_B4DVS5_%7C_E9PB82_%7C_F5HE57|P51659|alpha-linolenic_%20_acid_%20_metabolic_%20_process_%20_(GO:0036109)_%7C_androgen_%20_metabolic_%20_process_%20_(GO:0008209)_%7C_bile_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0006699)_%7C_bile_%20_acid_%20_metabolic_%20_process_%20_(GO:0008206)_%7C_cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_estrogen_%20_metabolic_%20_process_%20_(GO:0008210)_%7C_fatty_%20_acid_%20_beta-oxidation_%20_(GO:0006635)_%7C_fatty_%20_acid_%20_beta-oxidation_%20_using_%20_acyl-CoA_%20_oxidase_%20_(GO:0033540)_%7C_medium-chain_%20_fatty-acyl-CoA_%20_metabolic_%20_process_%20_(GO:0036112)_%7C_metabolic_%20_process_%20_(GO:0008152)_%7C_osteoblast_%20_differentiation_%20_(GO:0001649)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_Sertoli_%20_cell_%20_development_%20_(GO:0060009)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_unsaturated_%20_fatty_%20_acid_%20_metabolic_%20_process_%20_(GO:0033559)_%7C_very_%20_long-chain_%20_fatty_%20_acid_%20_metabolic_%20_process_%20_(GO:0000038)_%7C_very_%20_long-chain_%20_fatty-acyl-CoA_%20_metabolic_%20_process_%20_(GO:0036111)|intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrion_%20_(GO:0005739)_%7C_peroxisomal_%20_matrix_%20_(GO:0005782)_%7C_peroxisomal_%20_membrane_%20_(GO:0005778)_%7C_peroxisome_%20_(GO:0005777)|17-beta-hydroxysteroid_%20_dehydrogenase_%20_(NAD+)_%20_activity_%20_(GO:0044594)_%7C_3-hydroxyacyl-CoA_%20_dehydrogenase_%20_activity_%20_(GO:0003857)_%7C_3alpha_%2C_7alpha_%2C_12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA_%20_hydratase_%20_activity_%20_(GO:0033989)_%7C_isomerase_%20_activity_%20_(GO:0016853)_%7C_long-chain-enoyl-CoA_%20_hydratase_%20_activity_%20_(GO:0016508)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_receptor_%20_binding_%20_(GO:0005102)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 121297728 exm473453 A G . PASS FUNCOTATION=[SRFBP1|hg19|chr5|121297728|121297728|START_CODON_SNP||SNP|A|A|G|g.chr5:121297728A>G|ENST00000339397.4|+|1|73|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.57356608478803|TTCATCTACCATGGCTCAGCC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471086|NM_152546.2|NP_689759.2|HGNC:26333|serum_%20_response_%20_factor_%20_binding_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ25286_%2C__%20_p49_%2C__%20_STRAP_%2C__%20_BUD22_%2C__%20_Rlb1|"BUD22_%20_homolog_%20_(S._%20_cerevisiae)"|5q23.1|2016-10-25|||AK058015||153443|ENSG00000151304|15492011|NM_152546|||CCDS43354|OTTHUMG00000162970|153443|610479|NM_152546|Q8NEF9|ENSG00000151304|uc003kst.2|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 132208861 rs765760 C T . PASS FUNCOTATION=[LEAP2|hg19|chr5|132208861|132208861|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr5:132208861C>T|ENST00000296877.2|+|1|||||0.4339152119700748|AGCAAGTGGACGATCTGGGGA|LEAP2_ENST00000485457.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471062|NM_052971.2|NP_443203.1|HGNC:29571|liver_%20_enriched_%20_antimicrobial_%20_peptide_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"liver_%20_expressed_%20_antimicrobial_%20_peptide_%20_2"|LEAP-2||5q31.1|2016-07-11||2016-07-11|AJ409065_%2C__%20_BX443829||116842|ENSG00000164406|12493837|NM_052971|||CCDS4163|OTTHUMG00000059837|116842|611373|NM_052971|Q969E1|ENSG00000164406|uc003kyc.4|LEAP2_HUMAN||D3DQ91|Q969E1|defense_%20_response_%20_to_%20_bacterium_%20_(GO:0042742)|extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 135513085 newrs55765823 T TC . PASS FUNCOTATION=[SMAD5|hg19|chr5|135513085|135513086|SPLICE_SITE|FRAME_SHIFT_INS|INS|-|-|C|g.chr5:135513085_135513086insC|ENST00000545279.1|+|8|1674|c.1314_1315insC|c.(1315-1317)cttfs|p.L439fs|0.36|GATTGAGATTATCTTCATGG|SMAD5_ENST00000545620.1_SPLICE_SITE_p.L439fs/SMAD5_ENST00000514641.2_INTRON|||||||||||||||||||||||||278|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(188)_%7C_pancreas(22)|||||||U73825|NM_005903.5|NP_005894.3|HGNC:6771|SMAD_%20_family_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MADH5|"MAD_%2C__%20_mothers_%20_against_%20_decapentaplegic_%20_homolog_%20_5_%20_(Drosophila)"_%2C__%20_"SMAD_%2C__%20_mothers_%20_against_%20_DPP_%20_homolog_%20_5_%20_(Drosophila)"|Dwfc_%2C__%20_JV5-1||5q31.1|2016-10-25|2004-05-26|2006-11-06|U59913||4090|ENSG00000113658|8673135|NM_005903|750|SMAD_%20_family|CCDS75308|OTTHUMG00000163212|4090|603110|NM_001001419|Q99717|ENSG00000113658|uc032vlx.1|SMAD5_HUMAN||O14688_%7C_Q15798_%7C_Q9UQA1|Q99717|BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_development_%20_(GO:0060348)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_cartilage_%20_development_%20_(GO:0051216)_%7C_cellular_%20_response_%20_to_%20_BMP_%20_stimulus_%20_(GO:0071773)_%7C_cellular_%20_response_%20_to_%20_organic_%20_cyclic_%20_compound_%20_(GO:0071407)_%7C_embryonic_%20_pattern_%20_specification_%20_(GO:0009880)_%7C_erythrocyte_%20_differentiation_%20_(GO:0030218)_%7C_germ_%20_cell_%20_development_%20_(GO:0007281)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_Mullerian_%20_duct_%20_regression_%20_(GO:0001880)_%7C_osteoblast_%20_fate_%20_commitment_%20_(GO:0002051)_%7C_positive_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045669)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_involved_%20_in_%20_cellular_%20_response_%20_to_%20_chemical_%20_stimulus_%20_(GO:1901522)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_ureteric_%20_bud_%20_development_%20_(GO:0001657)|cytosol_%20_(GO:0005829)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intracellular_%20_(GO:0005622)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_receptor_%20_signaling_%20_protein_%20_activity_%20_(GO:0005057)_%7C_RNA_%20_polymerase_%20_II_%20_core_%20_promoter_%20_sequence-specific_%20_DNA_%20_binding_%20_(GO:0000979)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%2C__%20_pathway-specific_%20_cytoplasmic_%20_mediator_%20_activity_%20_(GO:0030618)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 137451371 exm480022 T A . PASS FUNCOTATION=[NME5|hg19|chr5|137451371|137451371|NONSTOP||SNP|T|T|A|g.chr5:137451371T>A|ENST00000265191.2|-|6|688|c.638A>T|c.(637-639)tAa>tTa|p.*213L|0.26433915211970077|ATTTTTTTTTTAATAAGGTTC|RNU6-460P_ENST00000391158.1_FIVE_PRIME_FLANK/snoU13_ENST00000459094.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||115|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_upper_aerodigestive_tract(1)|||||||Y14992|NM_003551.2|NP_003542.1|HGNC:7853|NME/NM23_%20_family_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"non-metastatic_%20_cells_%20_5_%2C__%20_protein_%20_expressed_%20_in_%20_(nucleoside-diphosphate_%20_kinase)"|nm23-H5_%2C__%20_RSPH23|"radial_%20_spoke_%20_23_%20_homolog_%20_(Chlamydomonas)"|5q31.2|2014-11-19||2012-05-18|Y14992||8382|ENSG00000112981|9742940_%2C__%20_19852809|NM_003551|961|NME/NM23_%20_family|CCDS4197|OTTHUMG00000129207|8382|603575|NM_003551|P56597|ENSG00000112981|uc003lce.4|NDK5_HUMAN||B2R5G7|P56597|cilium_%20_assembly_%20_(GO:0042384)_%7C_CTP_%20_biosynthetic_%20_process_%20_(GO:0006241)_%7C_epithelial_%20_cilium_%20_movement_%20_(GO:0003351)_%7C_GTP_%20_biosynthetic_%20_process_%20_(GO:0006183)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1902176)_%7C_nucleoside_%20_metabolic_%20_process_%20_(GO:0009116)_%7C_spermatid_%20_development_%20_(GO:0007286)_%7C_spermatogenesis_%20_(GO:0007283)_%7C_UTP_%20_biosynthetic_%20_process_%20_(GO:0006228)_%7C_ventricular_%20_system_%20_development_%20_(GO:0021591)|sperm_%20_flagellum_%20_(GO:0036126)|ATP_%20_binding_%20_(GO:0005524)_%7C_nucleoside_%20_diphosphate_%20_kinase_%20_activity_%20_(GO:0004550)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 138210895 rs288036 C A . PASS FUNCOTATION=[LRRTM2|hg19|chr5|138210895|138210895|DE_NOVO_START_OUT_FRAME||SNP|C|C|A|g.chr5:138210895C>A|ENST00000518785.1|-|1|||||0.4314214463840399|CTTCAGTCTCCTTTCCGCAGC|LRRTM2_ENST00000521094.2_DE_NOVO_START_OUT_FRAME/CTNNA1_ENST00000518825.1_INTRON/LRRTM2_ENST00000274711.6_DE_NOVO_START_OUT_FRAME/CTNNA1_ENST00000302763.7_INTRON/CTNNA1_ENST00000355078.5_INTRON/CTNNA1_ENST00000540387.1_FIVE_PRIME_FLANK/CTNNA1_ENST00000520400.1_INTRON/LRRTM2_ENST00000523537.1_INTRON|||||||||||||||||||||||||||||||||AC011405|||HGNC:19409|leucine_%20_rich_%20_repeat_%20_transmembrane_%20_neuronal_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA0416||5q31.2|2016-10-25|||AB007876||26045|ENSG00000146006|12676565||||CCDS47272|OTTHUMG00000163535|26045|610868|NM_015564|O43300|ENSG00000146006|uc011cyz.2|LRRT2_HUMAN||A0AVL3_%7C_A8K4U9_%7C_B7ZLN8_%7C_Q7L770|O43300|long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_negative_%20_regulation_%20_of_%20_receptor_%20_internalization_%20_(GO:0002091)_%7C_synapse_%20_organization_%20_(GO:0050808)|cell_%20_junction_%20_(GO:0030054)_%7C_excitatory_%20_synapse_%20_(GO:0060076)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 139508064 exm481924 G A . PASS FUNCOTATION=[IGIP|hg19|chr5|139508064|139508064|START_CODON_SNP||SNP|G|G|A|g.chr5:139508064G>A|ENST00000333305.3|+|1|2544|c.3G>A|c.(1-3)atG>atA|p.M1I|0.35910224438902744|TATTAAATATGTGCAGTTATT||||||||||||||||||||||||||||||||||AC011379|NM_001007189.1|NP_001007190.1|HGNC:33847|IgA_%20_inducing_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C5orf53|"chromosome_%20_5_%20_open_%20_reading_%20_frame_%20_53"_%2C__%20_"IgA-inducing_%20_protein_%20_homolog_%20_(Bos_%20_taurus)"|LOC492311||5q31.3|2016-10-05|2011-09-22|2016-06-13|AB073888_%2C__%20_BC017422_%2C__%20_BC041380||492311|ENSG00000182700|19201837_%2C__%20_12874223_%2C__%20_21074276|NM_001007189|||CCDS34244|OTTHUMG00000163359|492311||NM_001007189|A6NJ69|ENSG00000182700|uc003lfb.2|IGIP_HUMAN|||A6NJ69||extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 140213970 exm484005 T G . PASS FUNCOTATION=[PCDHA7|hg19|chr5|140213970|140213970|START_CODON_SNP||SNP|T|T|G|g.chr5:140213970T>G|ENST00000525929.1|+|1|2|c.2T>G|c.(1-3)aTg>aGg|p.M1R|0.5087281795511222|TAATTTGAAATGGTGTGCCCG|PCDHA6_ENST00000529310.1_INTRON/PCDHA3_ENST00000522353.2_INTRON/PCDHA2_ENST00000526136.1_INTRON/PCDHA4_ENST00000530339.1_INTRON/PCDHA5_ENST00000529859.1_INTRON/PCDHA1_ENST00000504120.2_INTRON/PCDHA1_ENST00000394633.3_INTRON/PCDHA4_ENST00000512229.2_INTRON/PCDHA5_ENST00000529619.1_INTRON/PCDHA6_ENST00000527624.1_INTRON/PCDHA7_ENST00000378125.3_SPLICE_SITE_p.M1R|NSCLC(160_%3B_258_%20_2013_%20_5070_%20_22440_%20_28951)||||||||||||||||||||||||353|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(173)_%7C_lung(101)_%7C_pancreas(22)|||||||AF152485|NM_018910.2|NP_061733.1|HGNC:8673|protocadherin_%20_alpha_%20_7|Approved|complex_%20_locus_%20_constituent|other|CNRS4||CNR4_%2C__%20_CRNR4|"KIAA0345-like_%20_7"_%2C__%20_"ortholog_%20_to_%20_mouse_%20_CNR4"|5q31.3|2016-10-24|||AF152485||56141|ENSG00000204963|10380929_%2C__%20_10662547|NM_018910|20|Clustered_%20_protocadherins|CCDS54918|OTTHUMG00000163371|56141|606313|NM_018910|Q9UN72|ENSG00000204963|uc003lhq.2|PCDA7_HUMAN||O75282|Q9UN72|cell_%20_adhesion_%20_(GO:0007155)_%7C_homophilic_%20_cell_%20_adhesion_%20_(GO:0007156)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 140255770 indel.86893 A AC . PASS FUNCOTATION=[PCDHA12|hg19|chr5|140255770|140255771|FRAME_SHIFT_INS||INS|-|-|C|g.chr5:140255770_140255771insC|ENST00000398631.2|+|1|713|c.713_714insC|c.(712-714)aatfs|p.G239fs|0.3675|TGAATGACAATGGTCCGGCG|PCDHA9_ENST00000532602.1_INTRON/PCDHA6_ENST00000529310.1_INTRON/PCDHA3_ENST00000522353.2_INTRON/PCDHA8_ENST00000531613.1_INTRON/PCDHA11_ENST00000398640.2_INTRON/PCDHA10_ENST00000307360.5_INTRON/PCDHA2_ENST00000526136.1_INTRON/PCDHA4_ENST00000530339.1_INTRON/PCDHA7_ENST00000525929.1_INTRON/PCDHA5_ENST00000529859.1_INTRON/PCDHA1_ENST00000504120.2_INTRON/PCDHA1_ENST00000394633.3_INTRON/PCDHA4_ENST00000512229.2_INTRON/PCDHA5_ENST00000529619.1_INTRON/PCDHA10_ENST00000506939.2_INTRON/PCDHA6_ENST00000527624.1_INTRON|Pancreas(113_%3B_759_%20_1672_%20_13322_%20_24104_%20_50104)||||||||||||||||||||||||261|large_intestine(160)_%7C_lung(98)_%7C_oesophagus(1)_%7C_upper_aerodigestive_tract(2)|||||||BC113372|NM_031864.2|NP_114070.1|HGNC:8666|protocadherin_%20_alpha_%20_12|Approved|complex_%20_locus_%20_constituent|other|||PCDH-ALPHA12|"KIAA0345-like_%20_2"|5q31.3|2016-10-05|||AF152477||56137|ENSG00000251664|10380929|NM_018903|20|Clustered_%20_protocadherins|CCDS47285_%2C__%20_CCDS75327|OTTHUMG00000163366|56137|606318|NM_018903|Q9UN75|ENSG00000251664|uc003lic.4|PCDAC_HUMAN||O75278_%7C_Q2M1N8|Q9UN75|homophilic_%20_cell_%20_adhesion_%20_(GO:0007156)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 140503900 indel.86950 T TG . PASS FUNCOTATION=[PCDHB4|hg19|chr5|140503900|140503901|FRAME_SHIFT_INS||INS|-|-|G|g.chr5:140503900_140503901insG|ENST00000194152.1|+|1|2320|c.2320_2321insG|c.(2320-2322)ttgfs|p.L774fs|0.4975|CCTAATCTCTTGGTTCAGGA||||||||||||||||||||||||||470|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(173)_%7C_lung(98)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||BC098346|NM_018938.2|NP_061761.1|HGNC:8689|protocadherin_%20_beta_%20_4|Approved|protocadherin|other|||PCDH-BETA4||5q31.3|2016-10-05|||AF152497||56131|ENSG00000081818|10380929|NM_018938|20|Clustered_%20_protocadherins|CCDS4246|OTTHUMG00000129617|56131|606330|NM_018938|Q9Y5E5|ENSG00000081818|uc003lip.3|PCDB4_HUMAN||Q4V761|Q9Y5E5|calcium-dependent_%20_cell-cell_%20_adhesion_%20_(GO:0016339)_%7C_cell_%20_adhesion_%20_(GO:0007155)_%7C_homophilic_%20_cell_%20_adhesion_%20_(GO:0007156)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_synapse_%20_assembly_%20_(GO:0007416)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|cytoplasm_%20_(GO:0005737)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 140529841 exm2089280 G A . PASS FUNCOTATION=[PCDHB6|hg19|chr5|140529841|140529841|START_CODON_SNP||SNP|G|G|A|g.chr5:140529841G>A|ENST00000231136.1|+|1|3|c.3G>A|c.(1-3)atG>atA|p.M1I|0.4613466334164589|TAATAGACATGATGCAAACTA|PCDHB6_ENST00000543635.1_FIVE_PRIME_UTR|||||||||||||||||||||||||351|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(171)_%7C_lung(101)_%7C_pancreas(22)|||||||AF217752|NM_018939.2|NP_061762.1|HGNC:8691|protocadherin_%20_beta_%20_6|Approved|protocadherin|other|||PCDH-BETA6||5q31.3|2016-10-05|||AF152499||56130|ENSG00000113211|10380929|NM_018939|20|Clustered_%20_protocadherins|CCDS4248_%2C__%20_CCDS78067|OTTHUMG00000129623|56130|606332|NM_001303145|Q9Y5E3|ENSG00000113211|uc003lir.4|PCDB6_HUMAN||B2R8R9|Q9Y5E3|calcium-dependent_%20_cell-cell_%20_adhesion_%20_(GO:0016339)_%7C_cell_%20_adhesion_%20_(GO:0007155)_%7C_homophilic_%20_cell_%20_adhesion_%20_(GO:0007156)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_synapse_%20_assembly_%20_(GO:0007416)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 140596092 exm487247 A G . PASS FUNCOTATION=[PCDHB13|hg19|chr5|140596092|140596092|NONSTOP||SNP|A|A|G|g.chr5:140596092A>G|ENST00000341948.4|+|1|2584|c.2397A>G|c.(2395-2397)tgA>tgG|p.*799W|0.41895261845386533|ATATTCAGTGACCATAGTTGA||||||||||||||||||||||||||418|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_large_intestine(172)_%7C_lung(99)_%7C_pancreas(22)|||||||BC071934|NM_018933.2|NP_061756.1|HGNC:8684|protocadherin_%20_beta_%20_13|Approved|protocadherin|other|||PCDH-BETA13||5q31.3|2016-10-05|||AF152492||56123|ENSG00000187372|10380929|NM_018933|20|Clustered_%20_protocadherins|CCDS4255|OTTHUMG00000129615|56123|606339|NM_018933|Q9Y5F0|ENSG00000187372|uc003lja.3|PCDBD_HUMAN||A8K9V6|Q9Y5F0|calcium-dependent_%20_cell-cell_%20_adhesion_%20_(GO:0016339)_%7C_homophilic_%20_cell_%20_adhesion_%20_(GO:0007156)_%7C_synapse_%20_assembly_%20_(GO:0007416)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 142814699 kgp22176342 A C . PASS FUNCOTATION=[NR3C1|hg19|chr5|142814699|142814699|DE_NOVO_START_IN_FRAME||SNP|A|A|C|g.chr5:142814699A>C|ENST00000343796.2|-|1|||||0.428927680798005|AAACTAAATGAATGCGTGCAT|NR3C1_ENST00000504572.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||650|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(452)_%7C_kidney(108)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X03348|NM_001018077.1|NP_001191194.1|HGNC:7978|nuclear_%20_receptor_%20_subfamily_%20_3_%20_group_%20_C_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GRL|"nuclear_%20_receptor_%20_subfamily_%20_3_%2C__%20_group_%20_C_%2C__%20_member_%20_1"_%2C__%20_"nuclear_%20_receptor_%20_subfamily_%20_3_%2C__%20_group_%20_C_%2C__%20_member_%20_1_%20_(glucocorticoid_%20_receptor)"|GR|"glucocorticoid_%20_receptor"|5q31.3|2016-10-05||2015-11-18|X03225||2908|ENSG00000113580|2867473||71|Nuclear_%20_hormone_%20_receptors|CCDS4278_%2C__%20_CCDS34258_%2C__%20_CCDS47298|OTTHUMG00000129677|2908|138040|NM_000176|P04150|ENSG00000113580|uc003lnd.3|GCR_HUMAN|Alclometasone(DB00240)_%7C_Amcinonide(DB00288)_%7C_Beclomethasone(DB00394)_%7C_Betamethasone(DB00443)_%7C_Budesonide(DB01222)_%7C_Ciclesonide(DB01410)_%7C_Clobetasol_%20_propionate(DB01013)_%7C_Clocortolone(DB00838)_%7C_Cortisone_%20_acetate(DB01380)_%7C_Desonide(DB01260)_%7C_Desoximetasone(DB00547)_%7C_Dexamethasone(DB01234)_%7C_Diflorasone(DB00223)_%7C_Difluprednate(DB06781)_%7C_Fludrocortisone(DB00687)_%7C_Flumethasone_%20_Pivalate(DB00663)_%7C_Flunisolide(DB00180)_%7C_Fluocinolone_%20_Acetonide(DB00591)_%7C_Fluocinonide(DB01047)_%7C_Fluorometholone(DB00324)_%7C_Fluoxymesterone(DB01185)_%7C_Flurandrenolide(DB00846)_%7C_Fluticasone_%20_furoate(DB08906)_%7C_Fluticasone_%20_Propionate(DB00588)_%7C_Halobetasol_%20_Propionate(DB00596)_%7C_Hydrocortamate(DB00769)_%7C_Hydrocortisone(DB00741)_%7C_Loteprednol(DB00873)_%7C_Medrysone(DB00253)_%7C_Megestrol_%20_acetate(DB00351)_%7C_Methylprednisolone(DB00959)_%7C_Mifepristone(DB00834)_%7C_Mometasone(DB00764)_%7C_Paramethasone(DB01384)_%7C_Prednicarbate(DB01130)_%7C_Prednisolone(DB00860)_%7C_Prednisone(DB00635)_%7C_Rimexolone(DB00896)_%7C_Spironolactone(DB00421)_%7C_Triamcinolone(DB00620)|A0ZXF9_%7C_B0LPG8_%7C_D3DQF4_%7C_P04151_%7C_Q53EP5_%7C_Q6N0A4|P04150|adrenal_%20_gland_%20_development_%20_(GO:0030325)_%7C_chromatin_%20_modification_%20_(GO:0016568)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_glucocorticoid_%20_metabolic_%20_process_%20_(GO:0008211)_%7C_mammary_%20_gland_%20_duct_%20_morphogenesis_%20_(GO:0060603)_%7C_negative_%20_regulation_%20_of_%20_glucocorticoid_%20_mediated_%20_signaling_%20_pathway_%20_(GO:1900170)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_regulation_%20_of_%20_glucocorticoid_%20_biosynthetic_%20_process_%20_(GO:0031946)_%7C_regulation_%20_of_%20_gluconeogenesis_%20_(GO:0006111)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006366)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|glucocorticoid_%20_receptor_%20_activity_%20_(GO:0004883)_%7C_RNA_%20_polymerase_%20_II_%20_core_%20_promoter_%20_proximal_%20_region_%20_sequence-specific_%20_DNA_%20_binding_%20_(GO:0000978)_%7C_RNA_%20_polymerase_%20_II_%20_core_%20_promoter_%20_proximal_%20_region_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_involved_%20_in_%20_positive_%20_regulation_%20_of_%20_transcription_%20_(GO:0001077)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_steroid_%20_binding_%20_(GO:0005496)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 142815041 kgp22485205 C A . PASS FUNCOTATION=[NR3C1|hg19|chr5|142815041|142815041|DE_NOVO_START_OUT_FRAME||SNP|C|C|A|g.chr5:142815041C>A|ENST00000343796.2|-|1|||||0.4114713216957606|GAAGAGGTACCTTTTGAATGG|NR3C1_ENST00000504572.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||650|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(452)_%7C_kidney(108)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X03348|NM_001018077.1|NP_001191194.1|HGNC:7978|nuclear_%20_receptor_%20_subfamily_%20_3_%20_group_%20_C_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GRL|"nuclear_%20_receptor_%20_subfamily_%20_3_%2C__%20_group_%20_C_%2C__%20_member_%20_1"_%2C__%20_"nuclear_%20_receptor_%20_subfamily_%20_3_%2C__%20_group_%20_C_%2C__%20_member_%20_1_%20_(glucocorticoid_%20_receptor)"|GR|"glucocorticoid_%20_receptor"|5q31.3|2016-10-05||2015-11-18|X03225||2908|ENSG00000113580|2867473||71|Nuclear_%20_hormone_%20_receptors|CCDS4278_%2C__%20_CCDS34258_%2C__%20_CCDS47298|OTTHUMG00000129677|2908|138040|NM_000176|P04150|ENSG00000113580|uc003lnd.3|GCR_HUMAN|Alclometasone(DB00240)_%7C_Amcinonide(DB00288)_%7C_Beclomethasone(DB00394)_%7C_Betamethasone(DB00443)_%7C_Budesonide(DB01222)_%7C_Ciclesonide(DB01410)_%7C_Clobetasol_%20_propionate(DB01013)_%7C_Clocortolone(DB00838)_%7C_Cortisone_%20_acetate(DB01380)_%7C_Desonide(DB01260)_%7C_Desoximetasone(DB00547)_%7C_Dexamethasone(DB01234)_%7C_Diflorasone(DB00223)_%7C_Difluprednate(DB06781)_%7C_Fludrocortisone(DB00687)_%7C_Flumethasone_%20_Pivalate(DB00663)_%7C_Flunisolide(DB00180)_%7C_Fluocinolone_%20_Acetonide(DB00591)_%7C_Fluocinonide(DB01047)_%7C_Fluorometholone(DB00324)_%7C_Fluoxymesterone(DB01185)_%7C_Flurandrenolide(DB00846)_%7C_Fluticasone_%20_furoate(DB08906)_%7C_Fluticasone_%20_Propionate(DB00588)_%7C_Halobetasol_%20_Propionate(DB00596)_%7C_Hydrocortamate(DB00769)_%7C_Hydrocortisone(DB00741)_%7C_Loteprednol(DB00873)_%7C_Medrysone(DB00253)_%7C_Megestrol_%20_acetate(DB00351)_%7C_Methylprednisolone(DB00959)_%7C_Mifepristone(DB00834)_%7C_Mometasone(DB00764)_%7C_Paramethasone(DB01384)_%7C_Prednicarbate(DB01130)_%7C_Prednisolone(DB00860)_%7C_Prednisone(DB00635)_%7C_Rimexolone(DB00896)_%7C_Spironolactone(DB00421)_%7C_Triamcinolone(DB00620)|A0ZXF9_%7C_B0LPG8_%7C_D3DQF4_%7C_P04151_%7C_Q53EP5_%7C_Q6N0A4|P04150|adrenal_%20_gland_%20_development_%20_(GO:0030325)_%7C_chromatin_%20_modification_%20_(GO:0016568)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_glucocorticoid_%20_metabolic_%20_process_%20_(GO:0008211)_%7C_mammary_%20_gland_%20_duct_%20_morphogenesis_%20_(GO:0060603)_%7C_negative_%20_regulation_%20_of_%20_glucocorticoid_%20_mediated_%20_signaling_%20_pathway_%20_(GO:1900170)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_regulation_%20_of_%20_glucocorticoid_%20_biosynthetic_%20_process_%20_(GO:0031946)_%7C_regulation_%20_of_%20_gluconeogenesis_%20_(GO:0006111)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006366)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|glucocorticoid_%20_receptor_%20_activity_%20_(GO:0004883)_%7C_RNA_%20_polymerase_%20_II_%20_core_%20_promoter_%20_proximal_%20_region_%20_sequence-specific_%20_DNA_%20_binding_%20_(GO:0000978)_%7C_RNA_%20_polymerase_%20_II_%20_core_%20_promoter_%20_proximal_%20_region_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_involved_%20_in_%20_positive_%20_regulation_%20_of_%20_transcription_%20_(GO:0001077)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_steroid_%20_binding_%20_(GO:0005496)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 147665609 exm492891 T C . PASS FUNCOTATION=[SPINK13|hg19|chr5|147665609|147665609|NONSTOP||SNP|T|T|C|g.chr5:147665609T>C|ENST00000512953.1|+|6|814|c.283T>C|c.(283-285)Taa>Caa|p.*95Q|0.2892768079800499|AAAATGTGATTAATGGGTACC|SPINK13_ENST00000511106.1_NONSTOP_p.*55Q/SPINK13_ENST00000398450.4_NONSTOP_p.*95Q/RP11-373N22.3_ENST00000501695.3_RNA|||||||||||||||||||||||||22|central_nervous_system(22)|||||||DQ438947|||HGNC:27200|serine_%20_peptidase_%20_inhibitor_%2C__%20_Kazal_%20_type_%20_13_%20_(putative)|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SPINK5L3_%2C__%20_LiESP6_%2C__%20_HESPINTOR_%2C__%20_MGC149260||5q32|2016-10-31|||||153218|ENSG00000214510|23430248|NM_001040129.2|740|Serine_%20_peptidase_%20_inhibitors_%2C__%20_Kazal_%20_type|CCDS43383|OTTHUMG00000163426|153218|615205|NM_001040129|Q1W4C9|ENSG00000214510|uc003lpc.4|ISK13_HUMAN||A1A4Y2|Q1W4C9|negative_%20_regulation_%20_of_%20_acrosome_%20_reaction_%20_(GO:1902225)|extracellular_%20_region_%20_(GO:0005576)|serine-type_%20_endopeptidase_%20_inhibitor_%20_activity_%20_(GO:0004867)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 153409127 indel.87683 G GA . PASS FUNCOTATION=[FAM114A2|hg19|chr5|153409127|153409128|FRAME_SHIFT_INS||INS|-|-|A|g.chr5:153409127_153409128insA|ENST00000351797.4|-|5|494|c.416_417insT|c.(415-417)gccfs|p.K140fs|0.3875|ATTCTCTTTGGCATTTGTCT|FAM114A2_ENST00000522858.1_FRAME_SHIFT_INS_p.K140fs/FAM114A2_ENST00000520667.1_FRAME_SHIFT_INS_p.K140fs/FAM114A2_ENST00000520313.1_FRAME_SHIFT_INS_p.K70fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471062|NM_018691.2|NP_061161.2|HGNC:1333|family_%20_with_%20_sequence_%20_similarity_%20_114_%20_member_%20_A2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C5orf3|"chromosome_%20_5_%20_open_%20_reading_%20_frame_%20_3"_%2C__%20_"family_%20_with_%20_sequence_%20_similarity_%20_114_%2C__%20_member_%20_A2"|133K02||5q33.2|2017-07-12|2008-06-13|2015-11-18|AF159700||10827|ENSG00000055147|10843801|NM_018691|||CCDS4323_%2C__%20_CCDS83036|OTTHUMG00000130147|10827||NM_001317993|Q9NRY5|ENSG00000055147|uc003lvc.5|F1142_HUMAN||B2R8D8_%7C_Q9H7E0|Q9NRY5|||purine_%20_nucleotide_%20_binding_%20_(GO:0017076)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 169675703 exm2094972 A G . PASS FUNCOTATION=[LCP2|hg19|chr5|169675703|169675703|NONSTOP||SNP|A|A|G|g.chr5:169675703A>G|ENST00000046794.5|-|21|2216|c.1600T>C|c.(1600-1602)Tag>Cag|p.*534Q|0.4114713216957606|ATAACTTGCTATGGGTACCCT|LCP2_ENST00000521416.1_NONSTOP_p.*329Q/C5orf58_ENST00000517575.1_INTRON|||||||||||||||||||||||||23|breast(1)_%7C_central_nervous_system(22)|||||||U20158|NM_005565.3|NP_005556.1|HGNC:6529|lymphocyte_%20_cytosolic_%20_protein_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SLP76|"lymphocyte_%20_cytosolic_%20_protein_%20_2_%20_(SH2_%20_domain-containing_%20_leukocyte_%20_protein_%20_of_%20_76kD)"_%2C__%20_"lymphocyte_%20_cytosolic_%20_protein_%20_2_%20_(SH2_%20_domain_%20_containing_%20_leukocyte_%20_protein_%20_of_%20_76kDa)"|SLP-76|"76_%20_kDa_%20_tyrosine_%20_phosphoprotein"_%2C__%20_"SH2_%20_domain-containing_%20_leukocyte_%20_protein_%20_of_%20_76kD"|5q35.1|2015-11-10||2015-11-10|||3937|ENSG00000043462|7706237|NM_005565|741|SH2_%20_domain_%20_containing|CCDS47339|OTTHUMG00000163121|3937|601603|NM_005565|Q13094|ENSG00000043462|uc003man.2|LCP2_HUMAN||A8KA25_%7C_Q53XV4|Q13094|blood_%20_coagulation_%20_(GO:0007596)_%7C_cytokine_%20_secretion_%20_(GO:0050663)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_mast_%20_cell_%20_activation_%20_(GO:0045576)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_transmembrane_%20_receptor_%20_protein_%20_tyrosine_%20_kinase_%20_signaling_%20_pathway_%20_(GO:0007169)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytosol_%20_(GO:0005829)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 176943944 exm507743 C T . PASS FUNCOTATION=[DDX41|hg19|chr5|176943944|176943944|START_CODON_SNP||SNP|C|C|T|g.chr5:176943944C>T|ENST00000507955.1|-|1|527|c.3G>A|c.(1-3)atG>atA|p.M1I|0.6384039900249376|CCGACTCCTCCATTCTTTGCT|DDX41_ENST00000506965.1_INTRON|||||||||||||||||||||||||381|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(198)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471195|NM_016222.2|NP_057306.2|HGNC:18674|DEAD-box_%20_helicase_%20_41|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DEAD_%20_(Asp-Glu-Ala-Asp)_%20_box_%20_polypeptide_%20_41"|ABS_%2C__%20_MGC8828||5q35.3|2016-01-07||2016-01-07|AF195417||51428|ENSG00000183258|10607561|NM_016222|1516_%7C_499_%7C_1510|Spliceosomal_%20_P_%20_complex_%7C_DEAD-box_%20_helicases_%7C_Spliceosomal_%20_C_%20_complex|CCDS4427|OTTHUMG00000130858|51428|608170|NM_001321732|Q9UJV9|ENSG00000183258|uc003mho.4|DDX41_HUMAN||B2RDC8_%7C_Q96BK6_%7C_Q96K05_%7C_Q9NT96_%7C_Q9NW04|Q9UJV9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_interferon-beta_%20_(GO:0035458)_%7C_defense_%20_response_%20_to_%20_virus_%20_(GO:0051607)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_mRNA_%20_splicing_%2C__%20_via_%20_spliceosome_%20_(GO:0000398)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032481)_%7C_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032479)_%7C_RNA_%20_processing_%20_(GO:0006396)|catalytic_%20_step_%20_2_%20_spliceosome_%20_(GO:0071013)_%7C_cytosol_%20_(GO:0005829)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_membrane_%20_(GO:0016020)|ATP_%20_binding_%20_(GO:0005524)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_helicase_%20_activity_%20_(GO:0004386)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 180167058 exm511288 T A . PASS FUNCOTATION=[OR2Y1|hg19|chr5|180167058|180167058|START_CODON_SNP||SNP|T|T|A|g.chr5:180167058T>A|ENST00000307832.2|-|1|42|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.4389027431421446|AAACTTCCCATGGCCTTTTGC||||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471165|NM_001001657.1|NP_001001657.1|HGNC:14837|olfactory_%20_receptor_%20_family_%20_2_%20_subfamily_%20_Y_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"olfactory_%20_receptor_%2C__%20_family_%20_2_%2C__%20_subfamily_%20_Y_%2C__%20_member_%20_1"|||5q35.3|2016-10-05||2015-12-09|AB065676||134083|ENSG00000174339||XM_068682|149|Olfactory_%20_receptors_%2C__%20_family_%20_2|CCDS34323|OTTHUMG00000162237|134083||NM_001001657|Q8NGV0|ENSG00000174339|uc003mmf.2|OR2Y1_HUMAN||B9EIP1_%7C_Q6IFB1_%7C_Q96R16|Q8NGV0||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr5 180622167 exm511746 C G . PASS FUNCOTATION=[TRIM7|hg19|chr5|180622167|180622167|NONSTOP||SNP|C|C|G|g.chr5:180622167C>G|ENST00000274773.7|-|7|1597|c.1535G>C|c.(1534-1536)tGa>tCa|p.*512S|0.6583541147132169|CAGTGCCCCTCAAGGCCAGAT|TRIM7_ENST00000393315.1_NONSTOP_p.*304S/TRIM7_ENST00000361809.3_NONSTOP_p.*304S/TRIM7_ENST00000393319.3_NONSTOP_p.*330S/TRIM7_ENST00000422067.2_NONSTOP_p.*304S/TRIM7_ENST00000504241.1_INTRON/CTC-338M12.6_ENST00000419707.2_FIVE_PRIME_FLANK/CTC-338M12.6_ENST00000502812.2_FIVE_PRIME_FLANK/CTC-338M12.6_ENST00000509080.1_FIVE_PRIME_FLANK/CTC-338M12.6_ENST00000511517.1_FIVE_PRIME_FLANK/CTC-338M12.6_ENST00000512508.1_FIVE_PRIME_FLANK/CTC-338M12.2_ENST00000513771.1_FIVE_PRIME_FLANK|Esophageal_%20_Squamous(128_%3B_2258_%20_2308_%20_35507_%20_48647)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471165|NM_203293.2|NP_976038.1|HGNC:16278|tripartite_%20_motif_%20_containing_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tripartite_%20_motif-containing_%20_7"|RNF90_%2C__%20_GNIP|"glycogenin-interacting_%20_protein"_%2C__%20_"tripartite_%20_motif_%20_protein_%20_TRIM7"|5q35.3|2014-11-19||2011-01-25|AF220032||81786|ENSG00000146054|11331580|NM_203296|58_%7C_59|Ring_%20_finger_%20_proteins_%7C_Tripartite_%20_motif_%20_containing|CCDS4462_%2C__%20_CCDS4463_%2C__%20_CCDS4464_%2C__%20_CCDS43414|OTTHUMG00000130963|81786|609315|NM_033342|Q9C029|ENSG00000146054|uc003mmz.3|TRIM7_HUMAN||A2RUE4_%7C_D3DWR7_%7C_Q969F5_%7C_Q96F67_%7C_Q96J89_%7C_Q96J90|Q9C029||cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 4068932 exm513626 A G . PASS FUNCOTATION=[FAM217A|hg19|chr6|4068932|4068932|NONSTOP||SNP|A|A|G|g.chr6:4068932A>G|ENST00000274673.3|-|7|1929|c.1525T>C|c.(1525-1527)Taa>Caa|p.*509Q|0.3790523690773067|GAAAAGAGTTATTTTTGTTCA|FAM217A_ENST00000380188.2_INTRON|||||||||||||||||||||||||||||||||BC039349|NM_173563.2|NP_775834.2|HGNC:21362|family_%20_with_%20_sequence_%20_similarity_%20_217_%20_member_%20_A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C6orf146|"chromosome_%20_6_%20_open_%20_reading_%20_frame_%20_146"_%2C__%20_"family_%20_with_%20_sequence_%20_similarity_%20_217_%2C__%20_member_%20_A"|MGC43581||6p25.2|2016-10-05|2012-02-07|2015-11-18|BC039349||222826|ENSG00000145975||NM_173563|||CCDS4489|OTTHUMG00000014159|222826||NM_173563|Q8IXS0|ENSG00000145975|uc003mvx.4|F217A_HUMAN||Q5JYK1|Q8IXS0|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 6251131 indel.88686 T TC . PASS FUNCOTATION=[F13A1|hg19|chr6|6251131|6251132|FRAME_SHIFT_INS||INS|-|-|C|g.chr6:6251131_6251132insC|ENST00000264870.3|-|5|869|c.602_603insG|c.(601-603)gaafs|p.R202fs|0.355|CTCTTCTCTTTCTTTCTCAT||||||||||||||||||||||||||93|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(3)_%7C_pancreas(22)|||||||M22001|NM_000129.3|NP_000120.2|HGNC:3531|coagulation_%20_factor_%20_XIII_%20_A_%20_chain|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|F13A|"coagulation_%20_factor_%20_XIII_%2C__%20_A1_%20_polypeptide"|||6p25.1|2017-03-24||2016-01-15|M14539||2162|ENSG00000124491||NM_000129|773|Transglutaminases|CCDS4496|OTTHUMG00000014186|2162|134570|NM_000129|P00488|ENSG00000124491|uc003mwv.4|F13A_HUMAN|L-Glutamine(DB00130)|Q59HA7_%7C_Q8N6X2_%7C_Q96P24_%7C_Q9BX29|P00488|blood_%20_coagulation_%20_(GO:0007596)_%7C_peptide_%20_cross-linking_%20_(GO:0018149)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_platelet_%20_degranulation_%20_(GO:0002576)|blood_%20_microparticle_%20_(GO:0072562)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_platelet_%20_alpha_%20_granule_%20_lumen_%20_(GO:0031093)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_protein-glutamine_%20_gamma-glutamyltransferase_%20_activity_%20_(GO:0003810)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 18149358 rs9333569 T C . PASS FUNCOTATION=[TPMT|hg19|chr6|18149358|18149358|START_CODON_SNP||SNP|T|T|C|g.chr6:18149358T>C|ENST00000309983.4|-|2|87|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.34663341645885287|GTACCATCCATAGTTTCAGAG||Colon(190_%3B_1381_%20_2791_%20_16728_%20_32493)||||||||||||||||||||||||214|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(61)_%7C_large_intestine(21)_%7C_pancreas(22)_%7C_skin(73)_%7C_soft_tissue(24)|||||||U81573|NM_000367.2|NP_000358.1|HGNC:12014|thiopurine_%20_S-methyltransferase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||6p22.3|2017-03-24||||2.1.1.67|7172|ENSG00000137364|8316220||1400|Seven-beta-strand_%20_methyltransferase_%20_motif_%20_containing|CCDS4543|OTTHUMG00000014317|7172|187680|NM_000367|P51580|ENSG00000137364|uc003ncm.4|TPMT_HUMAN|Azathioprine(DB00993)_%7C_Bendroflumethiazide(DB00436)_%7C_Cefazolin(DB01327)_%7C_Mercaptopurine(DB01033)_%7C_Olsalazine(DB01250)_%7C_Trichlormethiazide(DB01021)|O14806_%7C_O15423_%7C_O15424_%7C_O15425_%7C_O15426_%7C_O15515_%7C_O15548_%7C_O43213_%7C_Q5VUK6_%7C_Q9UBE6_%7C_Q9UBT8_%7C_Q9UE62|P51580|methylation_%20_(GO:0032259)_%7C_nucleobase-containing_%20_compound_%20_metabolic_%20_process_%20_(GO:0006139)_%7C_response_%20_to_%20_testosterone_%20_(GO:0033574)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|thiopurine_%20_S-methyltransferase_%20_activity_%20_(GO:0008119)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 24403275 exm519703 A G . PASS FUNCOTATION=[MRS2|hg19|chr6|24403275|24403275|START_CODON_SNP||SNP|A|A|G|g.chr6:24403275A>G|ENST00000378386.3|+|1|94|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6758104738154613|CTCCAGCACCATGGAATGCCT|MRS2_ENST00000378353.1_START_CODON_SNP_p.M1V/MRS2_ENST00000274747.7_START_CODON_SNP_p.M1V/MRS2_ENST00000535061.1_START_CODON_SNP_p.M1V/MRS2_ENST00000443868.2_START_CODON_SNP_p.M1V/MRS2_ENST00000543597.1_FIVE_PRIME_UTR/MRS2_ENST00000483634.1_INTRON|||||||||||||||||||||||||69|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471087|NM_020662.2|NP_065713.1|HGNC:13785|MRS2_%2C__%20_magnesium_%20_transporter|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MRS2L|"MRS2-like_%2C__%20_magnesium_%20_homeostasis_%20_factor_%20_(S._%20_cerevisiae)"_%2C__%20_"MRS2_%20_magnesium_%20_homeostasis_%20_factor_%20_homolog_%20_(S._%20_cerevisiae)"|||6p22.3|2016-10-05|2008-01-18|2015-11-27|AF288288||57380|ENSG00000124532|||||CCDS4552_%2C__%20_CCDS69055_%2C__%20_CCDS69056_%2C__%20_CCDS75408|OTTHUMG00000014355|57380||NM_001286264|Q9HD23|ENSG00000124532|uc003neb.5|MRS2_HUMAN||A8K4U3_%7C_B3KNN2_%7C_B4DQL2_%7C_Q5T3Y1_%7C_Q6NTG4_%7C_Q96KF8_%7C_Q9BVP1|Q9HD23||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)|magnesium_%20_ion_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015095)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 24533938 exm520091 T C . PASS FUNCOTATION=[ALDH5A1|hg19|chr6|24533938|24533938|NONSTOP||SNP|T|T|C|g.chr6:24533938T>C|ENST00000491546.1|+|9|1652|c.1522T>C|c.(1522-1524)Tag>Cag|p.*508Q|0.428927680798005|CGGGGGCTTGTAGGATTCTTT|ALDH5A1_ENST00000357578.3_NONSTOP_p.*536Q/ALDH5A1_ENST00000348925.2_NONSTOP_p.*549Q/ALDH5A1_ENST00000546278.1_NONSTOP_p.*448Q|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||AL031230|||HGNC:408|aldehyde_%20_dehydrogenase_%20_5_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"aldehyde_%20_dehydrogenase_%20_5_%20_family_%2C__%20_member_%20_A1"|SSADH_%2C__%20_SSDH|"succinate-semialdehyde_%20_dehydrogenase"|6p22.3|2016-10-05||2015-11-18|L34820|1.2.1.24|7915|ENSG00000112294|7814412_%2C__%20_9059628||398|Aldehyde_%20_dehydrogenases|CCDS4555_%2C__%20_CCDS4556|OTTHUMG00000014356|7915|610045|NM_001080|P51649|ENSG00000112294|uc003neg.4|SSDH_HUMAN|Chlormerodrin(DB00534)_%7C_Succinic_%20_acid(DB00139)_%7C_Valproic_%20_Acid(DB00313)|B2RD26_%7C_G5E949_%7C_Q546H9_%7C_Q8N3W6|P51649|acetate_%20_metabolic_%20_process_%20_(GO:0006083)_%7C_central_%20_nervous_%20_system_%20_development_%20_(GO:0007417)_%7C_galactosylceramide_%20_metabolic_%20_process_%20_(GO:0006681)_%7C_gamma-aminobutyric_%20_acid_%20_catabolic_%20_process_%20_(GO:0009450)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_glucosylceramide_%20_metabolic_%20_process_%20_(GO:0006678)_%7C_glutamate_%20_metabolic_%20_process_%20_(GO:0006536)_%7C_glutamine_%20_metabolic_%20_process_%20_(GO:0006541)_%7C_glutathione_%20_metabolic_%20_process_%20_(GO:0006749)_%7C_glycerophospholipid_%20_metabolic_%20_process_%20_(GO:0006650)_%7C_neurotransmitter_%20_catabolic_%20_process_%20_(GO:0042135)_%7C_neurotransmitter_%20_secretion_%20_(GO:0007269)_%7C_post-embryonic_%20_development_%20_(GO:0009791)_%7C_protein_%20_homotetramerization_%20_(GO:0051289)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_short-chain_%20_fatty_%20_acid_%20_metabolic_%20_process_%20_(GO:0046459)_%7C_succinate_%20_metabolic_%20_process_%20_(GO:0006105)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_mitochondrion_%20_(GO:0005739)|protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_succinate-semialdehyde_%20_dehydrogenase_%20_(NAD+)_%20_activity_%20_(GO:0004777)_%7C_succinate-semialdehyde_%20_dehydrogenase_%20_[NAD(P)+]_%20_activity_%20_(GO:0009013)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 24701770 indel.89060 C CG . PASS FUNCOTATION=[ACOT13|hg19|chr6|24701770|24701771|FRAME_SHIFT_INS||INS|-|-|G|g.chr6:24701770_24701771insG|ENST00000230048.4|+|3|543|c.350_351insG|c.(349-351)tctfs|p.V118fs|0.35|CATTTACCTCTGTGGATCTG|ACOT13_ENST00000537591.1_FRAME_SHIFT_INS_p.V95fs/RP1-30M3.5_ENST00000607014.1_RNA/ACOT13_ENST00000476436.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC000894|NM_018473.3|NP_060943.1|HGNC:20999|acyl-CoA_%20_thioesterase_%20_13|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|THEM2|"thioesterase_%20_superfamily_%20_member_%20_2"|HT012||6p22.3|2016-10-05|2009-05-05|2009-05-05|AF220186||55856|ENSG00000112304|16934754_%2C__%20_19405909|NM_018473|41|Acyl-CoA_%20_thioesterases|CCDS4558_%2C__%20_CCDS54972|OTTHUMG00000014359|55856|615652|NM_001160094|Q9NPJ3|ENSG00000112304|uc003nek.4|ACO13_HUMAN||F5H2L4_%7C_O95549|Q9NPJ3|metabolic_%20_process_%20_(GO:0008152)_%7C_protein_%20_homotetramerization_%20_(GO:0051289)|cytoskeleton_%20_(GO:0005856)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|acyl-CoA_%20_hydrolase_%20_activity_%20_(GO:0047617)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 26027478 exm2118520 C T . PASS FUNCOTATION=[HIST1H4B|hg19|chr6|26027478|26027478|START_CODON_SNP||SNP|C|C|T|g.chr6:26027478C>T|ENST00000377364.3|-|1|3|c.3G>A|c.(1-3)atG>atA|p.M1I|0.5211970074812967|CGCGACCAGACATGTCTAACC||||||||||||||||||||||||||189|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||Z98744|NM_003544.2|NP_003535.1|HGNC:4789|histone_%20_cluster_%20_1_%20_H4_%20_family_%20_member_%20_b|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|H4FI|"H4_%20_histone_%20_family_%2C__%20_member_%20_I"_%2C__%20_"histone_%20_1_%2C__%20_H4b"_%2C__%20_"histone_%20_cluster_%20_1_%2C__%20_H4b"|H4/I||6p22.2|2016-08-15|2003-02-14|2016-08-15|X67081||8366|ENSG00000278705|9119399_%2C__%20_12408966|NM_003544|864|Histones|CCDS4572|OTTHUMG00000014417|8366|602829|NM_003544|P62805|ENSG00000278705|uc003nfr.4|H4_HUMAN||A2VCL0_%7C_P02304_%7C_P02305_%7C_Q6DRA9_%7C_Q6FGB8_%7C_Q6NWP7|P62805|CENP-A_%20_containing_%20_nucleosome_%20_assembly_%20_(GO:0034080)_%7C_chromatin_%20_organization_%20_(GO:0006325)_%7C_DNA_%20_replication-dependent_%20_nucleosome_%20_assembly_%20_(GO:0006335)_%7C_DNA_%20_replication-independent_%20_nucleosome_%20_assembly_%20_(GO:0006336)_%7C_histone_%20_H4-K20_%20_demethylation_%20_(GO:0035574)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_negative_%20_regulation_%20_of_%20_megakaryocyte_%20_differentiation_%20_(GO:0045653)_%7C_nucleosome_%20_assembly_%20_(GO:0006334)_%7C_telomere_%20_maintenance_%20_(GO:0000723)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_nuclear_%20_chromosome_%20_(GO:0000228)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleosome_%20_(GO:0000786)_%7C_nucleus_%20_(GO:0005634)_%7C_protein_%20_complex_%20_(GO:0043234)|DNA_%20_binding_%20_(GO:0003677)_%7C_histone_%20_demethylase_%20_activity_%20_(H4-K20_%20_specific)_%20_(GO:0035575)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 26216869 exm2118836 C A . PASS FUNCOTATION=[HIST1H2BG|hg19|chr6|26216869|26216869|START_CODON_SNP||SNP|C|C|A|g.chr6:26216869C>A|ENST00000244601.3|-|1|4|c.3G>T|c.(1-3)atG>atT|p.M1I|0.4488778054862843|CTGGTTCAGGCATGCTGTCAG|HIST1H2AE_ENST00000303910.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(1)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||Z80783|NM_003518.3|NP_003509.1|HGNC:4746|histone_%20_cluster_%20_1_%20_H2B_%20_family_%20_member_%20_g|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|H2BFA|"H2B_%20_histone_%20_family_%2C__%20_member_%20_A"_%2C__%20_"histone_%20_1_%2C__%20_H2bg"_%2C__%20_"histone_%20_cluster_%20_1_%2C__%20_H2bg"|H2B/a_%2C__%20_H2B.1A||6p22.2|2016-08-15|2003-02-14|2016-08-15|M60750||8339|ENSG00000273802|1916825_%2C__%20_12408966|NM_003518|864|Histones|CCDS4594|OTTHUMG00000014446|8339|602798|NM_003518|P62807|ENSG00000273802|uc003ngz.5|H2B1C_HUMAN||P02278_%7C_Q3B872_%7C_Q4VB69_%7C_Q93078_%7C_Q93080|P62807|antibacterial_%20_humoral_%20_response_%20_(GO:0019731)_%7C_chromatin_%20_organization_%20_(GO:0006325)_%7C_defense_%20_response_%20_to_%20_Gram-positive_%20_bacterium_%20_(GO:0050830)_%7C_innate_%20_immune_%20_response_%20_in_%20_mucosa_%20_(GO:0002227)_%7C_nucleosome_%20_assembly_%20_(GO:0006334)|extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleosome_%20_(GO:0000786)_%7C_nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 27114910 exm523525 G A . PASS FUNCOTATION=[HIST1H2AH|hg19|chr6|27114910|27114910|START_CODON_SNP||SNP|G|G|A|g.chr6:27114910G>A|ENST00000377459.1|+|1|50|c.3G>A|c.(1-3)atG>atA|p.M1I|0.5361596009975063|TGACCAGTATGTCTGGACGTG|HIST1H2BK_ENST00000356950.1_FIVE_PRIME_FLANK/HIST1H2BK_ENST00000396891.4_FIVE_PRIME_FLANK/MIR3143_ENST00000584253.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471081|NM_080596.2|NP_542163.1|HGNC:13671|histone_%20_cluster_%20_1_%20_H2A_%20_family_%20_member_%20_h|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"histone_%20_1_%2C__%20_H2ah"_%2C__%20_"histone_%20_cluster_%20_1_%2C__%20_H2ah"|H2AFALii_%2C__%20_dJ86C11.1_%2C__%20_H2A/S||6p22.1|2016-08-15||2016-08-15|AY131988||85235|ENSG00000274997|12408966|NM_080596|864|Histones|CCDS4622|OTTHUMG00000014468|85235|615013|NM_080596|Q96KK5|ENSG00000274997|uc003niz.5|H2A1H_HUMAN|||Q96KK5||extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleosome_%20_(GO:0000786)_%7C_nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 28056967 indel.89354 A AC . PASS FUNCOTATION=[ZNF165|hg19|chr6|28056967|28056968|FRAME_SHIFT_INS||INS|-|-|C|g.chr6:28056967_28056968insC|ENST00000377325.1|+|4|1733|c.1177_1178insC|c.(1177-1179)attfs|p.I393fs|0.435|CATCGGCGAATTCACACTGG|ZSCAN12P1_ENST00000529104.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(13)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X84801|NM_003447.3|NP_003438.1|HGNC:12953|zinc_%20_finger_%20_protein_%20_165|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ZSCAN7_%2C__%20_CT53|"cancer/testis_%20_antigen_%20_53"|6p22.1|2016-10-05|||U78722||7718|ENSG00000197279|7490084|NM_003447|42_%7C_28|SCAN_%20_domain_%20_containing_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS4643|OTTHUMG00000014505|7718|600834|NM_003447|P49910|ENSG00000197279|uc021yro.2|ZN165_HUMAN|||P49910|transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 29795623 exm526510 T C . PASS FUNCOTATION=[HLA-G|hg19|chr6|29795623|29795623|START_CODON_SNP||SNP|T|T|C|g.chr6:29795623T>C|ENST00000360323.6|+|1|26|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6758104738154613|ACGCCAAGGATGGTGGTCATG|HLA-G_ENST00000376828.2_MISSENSE_p.M6T/HLA-G_ENST00000376818.3_START_CODON_SNP_p.M1T/HLA-G_ENST00000376815.3_START_CODON_SNP_p.M1T/HLA-G_ENST00000428701.1_START_CODON_SNP_p.M1T|||||||||||||||||||||||||130|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_skin(32)_%7C_upper_aerodigestive_tract(8)|||||||X60983|||HGNC:4964|major_%20_histocompatibility_%20_complex_%2C__%20_class_%20_I_%2C__%20_G|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"HLA-G_%20_histocompatibility_%20_antigen_%2C__%20_class_%20_I_%2C__%20_G"||"b2_%20_microglobulin"|6p22.1|2017-07-07||2007-12-12|||3135|ENSG00000204632||NM_002127|591_%7C_588|C1-set_%20_domain_%20_containing_%7C_Histocompatibility_%20_complex|CCDS4668|OTTHUMG00000031157|3135|142871|NM_002127|P17693|ENSG00000204632|uc003nnw.2|HLAG_HUMAN|||P17693|antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_(GO:0042590)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%2C__%20_TAP-dependent_%20_(GO:0002479)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%2C__%20_TAP-independent_%20_(GO:0002480)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_(GO:0002474)_%7C_cellular_%20_defense_%20_response_%20_(GO:0006968)_%7C_cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_immune_%20_response-inhibiting_%20_cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0002767)_%7C_interferon-gamma-mediated_%20_signaling_%20_pathway_%20_(GO:0060333)_%7C_negative_%20_regulation_%20_of_%20_dendritic_%20_cell_%20_differentiation_%20_(GO:2001199)_%7C_negative_%20_regulation_%20_of_%20_T_%20_cell_%20_proliferation_%20_(GO:0042130)_%7C_positive_%20_regulation_%20_of_%20_interleukin-12_%20_production_%20_(GO:0032735)_%7C_positive_%20_regulation_%20_of_%20_regulatory_%20_T_%20_cell_%20_differentiation_%20_(GO:0045591)_%7C_positive_%20_regulation_%20_of_%20_T_%20_cell_%20_mediated_%20_cytotoxicity_%20_(GO:0001916)_%7C_positive_%20_regulation_%20_of_%20_T_%20_cell_%20_tolerance_%20_induction_%20_(GO:0002666)_%7C_regulation_%20_of_%20_immune_%20_response_%20_(GO:0050776)_%7C_type_%20_I_%20_interferon_%20_signaling_%20_pathway_%20_(GO:0060337)|early_%20_endosome_%20_membrane_%20_(GO:0031901)_%7C_ER_%20_to_%20_Golgi_%20_transport_%20_vesicle_%20_membrane_%20_(GO:0012507)_%7C_Golgi_%20_membrane_%20_(GO:0000139)_%7C_integral_%20_component_%20_of_%20_lumenal_%20_side_%20_of_%20_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0071556)_%7C_membrane_%20_(GO:0016020)_%7C_MHC_%20_class_%20_I_%20_protein_%20_complex_%20_(GO:0042612)_%7C_phagocytic_%20_vesicle_%20_membrane_%20_(GO:0030670)_%7C_plasma_%20_membrane_%20_(GO:0005886)|peptide_%20_antigen_%20_binding_%20_(GO:0042605)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_receptor_%20_binding_%20_(GO:0005102)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 30080582 exm527119 T C . PASS FUNCOTATION=[TRIM31|hg19|chr6|30080582|30080582|START_CODON_SNP||SNP|T|T|C|g.chr6:30080582T>C|ENST00000376734.3|-|2|127|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.46633416458852867|CCACTGGCCATGACAGAACAA|TRIM31_ENST00000540829.1_START_CODON_SNP_p.M1V/TRIM31-AS1_ENST00000440874.1_RNA/TRIM31_ENST00000485864.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||616|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(1)|||||||Y07828|NM_007028.3|NP_008959.3|HGNC:16289|tripartite_%20_motif_%20_containing_%20_31|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tripartite_%20_motif-containing_%20_31"|RNF_%2C__%20_HCGI_%2C__%20_C6orf13_%2C__%20_HCG1||6p22.1|2016-10-05||2011-01-25|AF230386||11074|ENSG00000204616|11331580||59_%7C_58|Tripartite_%20_motif_%20_containing_%7C_Ring_%20_finger_%20_proteins|CCDS34374|OTTHUMG00000031064|11074|609316|NM_007028|Q9BZY9|ENSG00000204616|uc011ihp.3|TRI31_HUMAN||A6NLX6_%7C_A9R9Q4_%7C_Q53H52_%7C_Q5RI37_%7C_Q5SRJ7_%7C_Q5SRJ8_%7C_Q5SS28_%7C_Q96AK4_%7C_Q96AP8_%7C_Q99579_%7C_Q9BZY8|Q9BZY9|innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_negative_%20_regulation_%20_of_%20_viral_%20_entry_%20_into_%20_host_%20_cell_%20_(GO:0046597)_%7C_negative_%20_regulation_%20_of_%20_viral_%20_transcription_%20_(GO:0032897)_%7C_positive_%20_regulation_%20_of_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0051091)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)_%7C_regulation_%20_of_%20_viral_%20_release_%20_from_%20_host_%20_cell_%20_(GO:1902186)|mitochondrion_%20_(GO:0005739)|ligase_%20_activity_%20_(GO:0016874)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 31828246 indel.89874 C CCT . PASS FUNCOTATION=[NEU1|hg19|chr6|31828246|31828247|FRAME_SHIFT_INS||INS|-|-|CT|g.chr6:31828246_31828247insCT|ENST00000375631.4|-|4|898|c.767_768insAG|c.(766-768)cagfs|p.E257fs|0.5925|ATCATTTTCCTGCTTGGGCT||||||||||||||||||||||||||159|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X78687|NM_000434.3|NP_000425.1|HGNC:7758|neuraminidase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|NEU|"sialidase_%20_1_%20_(lysosomal_%20_sialidase)"_%2C__%20_"neuraminidase_%20_1_%20_(lysosomal_%20_sialidase)"|||6p21.33|2016-10-05||2016-07-01|AF040958|3.2.1.18|4758|ENSG00000204386|9054950||||CCDS4723|OTTHUMG00000031284|4758|608272|NM_000434|Q99519|ENSG00000204386|uc011ise.3|NEUR1_HUMAN|Oseltamivir(DB00198)||Q99519|glycosphingolipid_%20_metabolic_%20_process_%20_(GO:0006687)_%7C_lipid_%20_catabolic_%20_process_%20_(GO:0016042)_%7C_oligosaccharide_%20_catabolic_%20_process_%20_(GO:0009313)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_sphingolipid_%20_metabolic_%20_process_%20_(GO:0006665)|cell_%20_junction_%20_(GO:0030054)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_lysosome_%20_(GO:0005764)_%7C_plasma_%20_membrane_%20_(GO:0005886)|exo-alpha-(2->3)-sialidase_%20_activity_%20_(GO:0052794)_%7C_exo-alpha-(2->6)-sialidase_%20_activity_%20_(GO:0052795)_%7C_exo-alpha-(2->8)-sialidase_%20_activity_%20_(GO:0052796)_%7C_exo-alpha-sialidase_%20_activity_%20_(GO:0004308)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 32731258 exm-rs1573649 G A . PASS FUNCOTATION=[HLA-DQB2|hg19|chr6|32731258|32731258|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr6:32731258G>A|ENST00000437316.2|-|1|||||0.5236907730673317|CTTCCAAGACGTAAGTGAGAC|HLA-DQB2_ENST00000435145.2_DE_NOVO_START_IN_FRAME/HLA-DQB2_ENST00000411527.1_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||||||||||AL672104|||HGNC:4945|major_%20_histocompatibility_%20_complex_%2C__%20_class_%20_II_%2C__%20_DQ_%20_beta_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HLA-DXB||||6p21.32|2016-10-05|||M83890||3120|ENSG00000232629|2564844||591_%7C_588|C1-set_%20_domain_%20_containing_%7C_Histocompatibility_%20_complex|CCDS56419_%2C__%20_CCDS78128|OTTHUMG00000031125|3120|615161|NM_001198858|P05538|ENSG00000232629|uc063zhn.1|DQB2_HUMAN||A6NIA5_%7C_Q29826_%7C_Q29870_%7C_Q29871_%7C_Q29872_%7C_Q29873_%7C_Q5SR06|P05538|antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_II_%20_(GO:0019886)_%7C_B_%20_cell_%20_affinity_%20_maturation_%20_(GO:0002344)_%7C_cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_interferon-gamma-mediated_%20_signaling_%20_pathway_%20_(GO:0060333)_%7C_positive_%20_regulation_%20_of_%20_alpha-beta_%20_T_%20_cell_%20_activation_%20_(GO:0046635)_%7C_positive_%20_regulation_%20_of_%20_antigen_%20_processing_%20_and_%20_presentation_%20_(GO:0002579)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_1_%20_type_%20_immune_%20_response_%20_(GO:0002827)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)|clathrin-coated_%20_endocytic_%20_vesicle_%20_membrane_%20_(GO:0030669)_%7C_early_%20_endosome_%20_(GO:0005769)_%7C_endocytic_%20_vesicle_%20_membrane_%20_(GO:0030666)_%7C_ER_%20_to_%20_Golgi_%20_transport_%20_vesicle_%20_membrane_%20_(GO:0012507)_%7C_external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_Golgi_%20_membrane_%20_(GO:0000139)_%7C_integral_%20_component_%20_of_%20_lumenal_%20_side_%20_of_%20_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0071556)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_MHC_%20_class_%20_II_%20_protein_%20_complex_%20_(GO:0042613)_%7C_multivesicular_%20_body_%20_(GO:0005771)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_trans-Golgi_%20_network_%20_membrane_%20_(GO:0032588)_%7C_transport_%20_vesicle_%20_membrane_%20_(GO:0030658)|MHC_%20_class_%20_II_%20_receptor_%20_activity_%20_(GO:0032395)_%7C_peptide_%20_antigen_%20_binding_%20_(GO:0042605)_%7C_toxic_%20_substance_%20_binding_%20_(GO:0015643)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 32731258 rs1573649 G A . PASS FUNCOTATION=[HLA-DQB2|hg19|chr6|32731258|32731258|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr6:32731258G>A|ENST00000437316.2|-|1|||||0.5236907730673317|CTTCCAAGACGTAAGTGAGAC|HLA-DQB2_ENST00000435145.2_DE_NOVO_START_IN_FRAME/HLA-DQB2_ENST00000411527.1_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||||||||||AL672104|||HGNC:4945|major_%20_histocompatibility_%20_complex_%2C__%20_class_%20_II_%2C__%20_DQ_%20_beta_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HLA-DXB||||6p21.32|2016-10-05|||M83890||3120|ENSG00000232629|2564844||591_%7C_588|C1-set_%20_domain_%20_containing_%7C_Histocompatibility_%20_complex|CCDS56419_%2C__%20_CCDS78128|OTTHUMG00000031125|3120|615161|NM_001198858|P05538|ENSG00000232629|uc063zhn.1|DQB2_HUMAN||A6NIA5_%7C_Q29826_%7C_Q29870_%7C_Q29871_%7C_Q29872_%7C_Q29873_%7C_Q5SR06|P05538|antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_II_%20_(GO:0019886)_%7C_B_%20_cell_%20_affinity_%20_maturation_%20_(GO:0002344)_%7C_cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_interferon-gamma-mediated_%20_signaling_%20_pathway_%20_(GO:0060333)_%7C_positive_%20_regulation_%20_of_%20_alpha-beta_%20_T_%20_cell_%20_activation_%20_(GO:0046635)_%7C_positive_%20_regulation_%20_of_%20_antigen_%20_processing_%20_and_%20_presentation_%20_(GO:0002579)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_1_%20_type_%20_immune_%20_response_%20_(GO:0002827)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)|clathrin-coated_%20_endocytic_%20_vesicle_%20_membrane_%20_(GO:0030669)_%7C_early_%20_endosome_%20_(GO:0005769)_%7C_endocytic_%20_vesicle_%20_membrane_%20_(GO:0030666)_%7C_ER_%20_to_%20_Golgi_%20_transport_%20_vesicle_%20_membrane_%20_(GO:0012507)_%7C_external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_Golgi_%20_membrane_%20_(GO:0000139)_%7C_integral_%20_component_%20_of_%20_lumenal_%20_side_%20_of_%20_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0071556)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_MHC_%20_class_%20_II_%20_protein_%20_complex_%20_(GO:0042613)_%7C_multivesicular_%20_body_%20_(GO:0005771)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_trans-Golgi_%20_network_%20_membrane_%20_(GO:0032588)_%7C_transport_%20_vesicle_%20_membrane_%20_(GO:0030658)|MHC_%20_class_%20_II_%20_receptor_%20_activity_%20_(GO:0032395)_%7C_peptide_%20_antigen_%20_binding_%20_(GO:0042605)_%7C_toxic_%20_substance_%20_binding_%20_(GO:0015643)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 33172446 exm537955 A G . PASS FUNCOTATION=[HSD17B8|hg19|chr6|33172446|33172446|START_CODON_SNP||SNP|A|A|G|g.chr6:33172446A>G|ENST00000374662.3|+|1|28|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6658354114713217|ACAGCCCGCCATGGCGTCTCA|RING1_ENST00000374656.4_FIVE_PRIME_FLANK/RXRB_ENST00000374680.3_FIVE_PRIME_FLANK/RXRB_ENST00000374685.4_FIVE_PRIME_FLANK/RXRB_ENST00000413614.2_FIVE_PRIME_FLANK/RXRB_ENST00000544186.1_FIVE_PRIME_FLANK/MIR219-1_ENST00000362166.1_FIVE_PRIME_FLANK/HSD17B8_ENST00000469186.1_FIVE_PRIME_FLANK/RING1_ENST00000478431.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||154|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||D82061|NM_014234.4|NP_055049.1|HGNC:3554|hydroxysteroid_%20_17-beta_%20_dehydrogenase_%20_8|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FABGL|"FabG_%20_(beta-ketoacyl-[acyl-carrier-protein]_%20_reductase_%2C__%20_E_%20_coli)_%20_like_%20_(E._%20_coli)"_%2C__%20_"hydroxysteroid_%20_(17-beta)_%20_dehydrogenase_%20_8"|HKE6_%2C__%20_D6S2245E_%2C__%20_RING2_%2C__%20_KE6_%2C__%20_H2-KE6_%2C__%20_SDR30C1|"short_%20_chain_%20_dehydrogenase/reductase_%20_family_%20_30C_%2C__%20_member_%20_1"|6p21.32|2016-10-05|2002-02-22|2016-06-03|D82061|1.1.1.62|7923|ENSG00000204228|8812499_%2C__%20_19027726|NM_014234|743|Short_%20_chain_%20_dehydrogenase/reductase_%20_superfamily|CCDS4769|OTTHUMG00000031117|7923|601417|NM_014234|Q92506|ENSG00000204228|uc011izs.3|DHB8_HUMAN||A6NLX7_%7C_Q5STP7_%7C_Q9UIQ1|Q92506|androgen_%20_metabolic_%20_process_%20_(GO:0008209)_%7C_estrogen_%20_biosynthetic_%20_process_%20_(GO:0006703)_%7C_fatty_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0006633)|mitochondrial_%20_envelope_%20_(GO:0005740)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_plasma_%20_membrane_%20_(GO:0005886)|3-hydroxyacyl-CoA_%20_dehydrogenase_%20_activity_%20_(GO:0003857)_%7C_estradiol_%20_17-beta-dehydrogenase_%20_activity_%20_(GO:0004303)_%7C_testosterone_%20_dehydrogenase_%20_(NAD+)_%20_activity_%20_(GO:0047035)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 39554075 indel.90611 T TGC . PASS FUNCOTATION=[KIF6|hg19|chr6|39554075|39554076|FRAME_SHIFT_INS||INS|-|-|GC|g.chr6:39554075_39554076insGC|ENST00000287152.7|-|8|1047|c.951_952insGC|c.(952-954)atgfs|p.M318fs|0.425|TTGCAATCATAGTTGTCATG|KIF6_ENST00000373215.3_FRAME_SHIFT_INS_p.M318fs/KIF6_ENST00000373216.3_FRAME_SHIFT_INS_p.M318fs/KIF6_ENST00000373213.4_FRAME_SHIFT_INS_p.M157fs/KIF6_ENST00000538893.1_FRAME_SHIFT_INS_p.M318fs|||||||||||||||||||||||||246|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||BX649045|NM_145027.4|NP_659464.3|HGNC:21202|kinesin_%20_family_%20_member_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C6orf102|"chromosome_%20_6_%20_open_%20_reading_%20_frame_%20_102"|dJ1043E3.1_%2C__%20_MGC33317_%2C__%20_dJ137F1.4_%2C__%20_dJ188D3.1_%2C__%20_DKFZp451I2418||6p21.2|2014-11-19|||AL832634||221458|ENSG00000164627||NM_145027|622|Kinesins|CCDS4844_%2C__%20_CCDS75449|OTTHUMG00000014648|221458|613919|NM_001289020|Q6ZMV9|ENSG00000164627|uc003oot.3|KIF6_HUMAN||Q2MDE3_%7C_Q2MDE4_%7C_Q5T8J6_%7C_Q6ZWE3_%7C_Q86T87_%7C_Q8WTV4|Q6ZMV9|ATP_%20_catabolic_%20_process_%20_(GO:0006200)_%7C_metabolic_%20_process_%20_(GO:0008152)_%7C_microtubule-based_%20_movement_%20_(GO:0007018)|cytoplasm_%20_(GO:0005737)_%7C_kinesin_%20_complex_%20_(GO:0005871)_%7C_male_%20_germ_%20_cell_%20_nucleus_%20_(GO:0001673)_%7C_microtubule_%20_(GO:0005874)|ATP_%20_binding_%20_(GO:0005524)_%7C_ATPase_%20_activity_%20_(GO:0016887)_%7C_microtubule_%20_motor_%20_activity_%20_(GO:0003777)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 42713809 exm547280 C T . PASS FUNCOTATION=[TBCC|hg19|chr6|42713809|42713809|START_CODON_SNP||SNP|C|C|T|g.chr6:42713809C>T|ENST00000372876.1|-|1|26|c.3G>A|c.(1-3)atG>atA|p.M1I|0.5960099750623441|TGACGGACTCCATATTGGCTT|TBCC_ENST00000244625.2_START_CODON_SNP_p.M1I|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U61234|NM_003192.2|NP_003183.1|HGNC:11580|tubulin_%20_folding_%20_cofactor_%20_C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tubulin-specific_%20_chaperone_%20_c"|CFC||6p21.1|2015-08-26||2006-11-21|U61234||6903|ENSG00000124659|8706133_%2C__%20_11847227|NM_003192|||CCDS4872|OTTHUMG00000014704|6903|602971|NM_003192|Q15814|ENSG00000124659|uc003osl.4|TBCC_HUMAN||Q53Y43_%7C_Q5T787|Q15814|'de_%20_novo'_%20_posttranslational_%20_protein_%20_folding_%20_(GO:0051084)_%7C_cell_%20_morphogenesis_%20_(GO:0000902)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_GTP_%20_catabolic_%20_process_%20_(GO:0006184)_%7C_post-chaperonin_%20_tubulin_%20_folding_%20_pathway_%20_(GO:0007023)_%7C_protein_%20_folding_%20_(GO:0006457)|cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_microtubule_%20_(GO:0005874)_%7C_photoreceptor_%20_connecting_%20_cilium_%20_(GO:0032391)|chaperone_%20_binding_%20_(GO:0051087)_%7C_GTPase_%20_activity_%20_(GO:0003924)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 42713810 exm547281 A C . PASS FUNCOTATION=[TBCC|hg19|chr6|42713810|42713810|START_CODON_SNP||SNP|A|A|C|g.chr6:42713810A>C|ENST00000372876.1|-|1|25|c.2T>G|c.(1-3)aTg>aGg|p.M1R|0.5935162094763092|GACGGACTCCATATTGGCTTC|TBCC_ENST00000244625.2_START_CODON_SNP_p.M1R|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U61234|NM_003192.2|NP_003183.1|HGNC:11580|tubulin_%20_folding_%20_cofactor_%20_C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tubulin-specific_%20_chaperone_%20_c"|CFC||6p21.1|2015-08-26||2006-11-21|U61234||6903|ENSG00000124659|8706133_%2C__%20_11847227|NM_003192|||CCDS4872|OTTHUMG00000014704|6903|602971|NM_003192|Q15814|ENSG00000124659|uc003osl.4|TBCC_HUMAN||Q53Y43_%7C_Q5T787|Q15814|'de_%20_novo'_%20_posttranslational_%20_protein_%20_folding_%20_(GO:0051084)_%7C_cell_%20_morphogenesis_%20_(GO:0000902)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_GTP_%20_catabolic_%20_process_%20_(GO:0006184)_%7C_post-chaperonin_%20_tubulin_%20_folding_%20_pathway_%20_(GO:0007023)_%7C_protein_%20_folding_%20_(GO:0006457)|cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_microtubule_%20_(GO:0005874)_%7C_photoreceptor_%20_connecting_%20_cilium_%20_(GO:0032391)|chaperone_%20_binding_%20_(GO:0051087)_%7C_GTPase_%20_activity_%20_(GO:0003924)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 42858524 exm547465 C T . PASS FUNCOTATION=[C6orf226|hg19|chr6|42858524|42858524|START_CODON_SNP||SNP|C|C|T|g.chr6:42858524C>T|ENST00000408925.2|-|1|31|c.3G>A|c.(1-3)atG>atA|p.M1I|0.6533665835411472|GGGGACGCTCCATGTCGGGTC||||||||||||||||||||||||||||||||||BC094854|NM_001008739.1|NP_001008739.1|HGNC:34431|chromosome_%20_6_%20_open_%20_reading_%20_frame_%20_226|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||LOC441150||6p21.1|2016-09-30|||BC051007_%2C__%20_BC060325||441150|ENSG00000221821||NM_001008739|||CCDS43463|OTTHUMG00000156926|441150||NM_001008739|Q5I0X4|ENSG00000221821|uc003osw.3|CF226_HUMAN|||Q5I0X4|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 49604523 newrs121918588 C A . PASS FUNCOTATION=[RHAG|hg19|chr6|49604523|49604523|START_CODON_SNP||SNP|C|C|A|g.chr6:49604523C>A|ENST00000371175.4|-|1|30|c.3G>T|c.(1-3)atG>atT|p.M1I|0.41895261845386533|ATGTGAACCTCATGTTTGTGG|RHAG_ENST00000229810.7_START_CODON_SNP_p.M1I|Ovarian(176_%3B_476_%20_2003_%20_7720_%20_43408_%20_44749)||||||||||||||||||||||||155|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_lung(1)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||X64594|NM_000324.2|NP_000315.2|HGNC:10006|Rh_%20_associated_%20_glycoprotein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Rhesus_%20_blood_%20_group-associated_%20_glycoprotein"|RH50A_%2C__%20_CD241_%2C__%20_SLC42A1||6p12.3|2017-09-12||2017-09-12|||6005|ENSG00000112077|9479501||752_%7C_471_%7C_454|Solute_%20_carriers_%7C_CD_%20_molecules_%7C_Blood_%20_group_%20_antigens|CCDS4927|OTTHUMG00000016377|6005|180297|NM_000324|Q02094|ENSG00000112077|uc003ozk.5|RHAG_HUMAN||B2R8T8_%7C_O43514_%7C_O43515_%7C_Q7L8L3_%7C_Q9H454|Q02094|ammonium_%20_transmembrane_%20_transport_%20_(GO:0072488)_%7C_ammonium_%20_transport_%20_(GO:0015696)_%7C_bicarbonate_%20_transport_%20_(GO:0015701)_%7C_carbon_%20_dioxide_%20_transport_%20_(GO:0015670)_%7C_cellular_%20_ion_%20_homeostasis_%20_(GO:0006873)_%7C_erythrocyte_%20_development_%20_(GO:0048821)_%7C_multicellular_%20_organismal_%20_iron_%20_ion_%20_homeostasis_%20_(GO:0060586)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ammonium_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0008519)_%7C_ankyrin_%20_binding_%20_(GO:0030506)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 52285209 exm555450 A G . PASS FUNCOTATION=[EFHC1|hg19|chr6|52285209|52285209|START_CODON_SNP||SNP|A|A|G|g.chr6:52285209A>G|ENST00000371068.5|+|1|104|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6134663341645885|ACCGGCTGCAATGGTGTCCAA|EFHC1_ENST00000433625.2_FIVE_PRIME_UTR/EFHC1_ENST00000538167.1_FIVE_PRIME_FLANK/EFHC1_ENST00000491749.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||EU520261|NM_018100.3|NP_060570.2|HGNC:16406|EF-hand_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EJM1_%2C__%20_EJM|"epilepsy_%2C__%20_juvenile_%20_myoclonic_%20_1"_%2C__%20_"EF-hand_%20_domain_%20_(C-terminal)_%20_containing_%20_1"|FLJ10466|"myoclonin-1"|6p12.2|2016-10-05||2016-04-06|AK001328||114327|ENSG00000096093|15258581|NM_018100|863|EF-hand_%20_domain_%20_containing|CCDS4942_%2C__%20_CCDS55021|OTTHUMG00000014848|114327|608815|NM_001172420|Q5JVL4|ENSG00000096093|uc003pap.5|EFHC1_HUMAN||B4DMU3_%7C_F5GZD8_%7C_Q5XKM4_%7C_Q6E1U7_%7C_Q6E1U8_%7C_Q8WUL2_%7C_Q9NVW6|Q5JVL4||axoneme_%20_(GO:0005930)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein_%20_C-terminus_%20_binding_%20_(GO:0008022)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 76782204 exm562176 A T . PASS FUNCOTATION=[IMPG1|hg19|chr6|76782204|76782204|START_CODON_SNP||SNP|A|A|T|g.chr6:76782204A>T|ENST00000369950.3|-|1|192|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.3167082294264339|TTCCAAATACATTCTGGCTTT|IMPG1_ENST00000369963.3_START_CODON_SNP_p.M1K|Pancreas(37_%3B_839_%20_1141_%20_2599_%20_26037)||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471051|NM_001563.2|NP_001554.2|HGNC:6055|interphotoreceptor_%20_matrix_%20_proteoglycan_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SPACR|"sialoprotein_%20_associated_%20_with_%20_cones_%20_and_%20_rods"|IPM150_%2C__%20_GP147||6q14.1|2016-10-05||2004-05-25|AF017776||3617|ENSG00000112706||NM_001563|||CCDS4985_%2C__%20_CCDS75483|OTTHUMG00000015063|3617|602870|NM_001282368|Q17R60|ENSG00000112706|uc032xbg.2|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 84567107 exm563671 A C . PASS FUNCOTATION=[RIPPLY2|hg19|chr6|84567107|84567107|NONSTOP||SNP|A|A|C|g.chr6:84567107A>C|ENST00000369689.1|+|4|537|c.386A>C|c.(385-387)tAa>tCa|p.*129S|0.2793017456359102|TGTGAAAATTAATCTGATTAG|RIPPLY2_ENST00000369687.1_NONSTOP_p.*71S/CYB5R4_ENST00000369679.4_FIVE_PRIME_FLANK/CYB5R4_ENST00000369681.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471051|NM_001009994.2|NP_001009994.1|HGNC:21390|ripply_%20_transcriptional_%20_repressor_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C6orf159|"chromosome_%20_6_%20_open_%20_reading_%20_frame_%20_159"_%2C__%20_"ripply2_%20_homolog_%20_(zebrafish)"|dJ237I15.1||6q14.2|2014-11-19|2008-05-07|2013-07-23|BC130460||134701|ENSG00000203877||NM_001009994|||CCDS34493|OTTHUMG00000015117|134701|609891|NM_001009994|Q5TAB7|ENSG00000203877|uc003pke.5|RIPP2_HUMAN||Q5TAB6|Q5TAB7|bone_%20_morphogenesis_%20_(GO:0060349)_%7C_determination_%20_of_%20_left/right_%20_symmetry_%20_(GO:0007368)_%7C_Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_ossification_%20_(GO:0001503)_%7C_post-anal_%20_tail_%20_morphogenesis_%20_(GO:0036342)_%7C_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0010468)_%7C_somite_%20_rostral/caudal_%20_axis_%20_specification_%20_(GO:0032525)_%7C_somitogenesis_%20_(GO:0001756)|nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 88255394 var_6_88255394 CTTT C . PASS FUNCOTATION=[RARS2|hg19|chr6|88255395|88255397|IN_FRAME_DEL||DEL|TTT|TTT|-|g.chr6:88255395_88255397delTTT|ENST00000369536.5|-|7|521_523|c.472_474delAAA|c.(472-474)aaadel|p.K158del|0.2903225806451613|CTAAAGCTTCTTTGAGATTTGCT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471051|NM_020320.3|NP_064716.2|HGNC:21406|arginyl-tRNA_%20_synthetase_%20_2_%2C__%20_mitochondrial|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|RARSL|"arginyl-tRNA_%20_synthetase-like"|MGC14993_%2C__%20_MGC23778_%2C__%20_PRO1992_%2C__%20_dJ382I10.6_%2C__%20_DALRD2|"arginine_%20_tRNA_%20_ligase_%20_2_%2C__%20_mitochondrial_%20_(putative)"|6q15|2016-10-05|2007-02-23|2007-09-27|AK093934|6.1.1.19|57038|ENSG00000146282|17847012|NM_020320|131|Aminoacyl_%20_tRNA_%20_synthetases_%2C__%20_Class_%20_I|CCDS5011|OTTHUMG00000015178|57038|611524|NM_001318785|Q5T160|ENSG00000146282|uc003pme.4|SYRM_HUMAN||B2RDT7_%7C_Q96FU5_%7C_Q9H8K8|Q5T160|arginyl-tRNA_%20_aminoacylation_%20_(GO:0006420)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_tRNA_%20_aminoacylation_%20_for_%20_protein_%20_translation_%20_(GO:0006418)|mitochondrial_%20_matrix_%20_(GO:0005759)|arginine-tRNA_%20_ligase_%20_activity_%20_(GO:0004814)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||true|false||false|false|||false|false|false|RARS2:57038|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|757743894|88255395|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|DIV|true|0x050000000005040402000200|1|false|144|rs757743894|] -chr6 109954114 exm571178 T A . PASS FUNCOTATION=[AK9|hg19|chr6|109954114|109954114|NONSTOP||SNP|T|T|A|g.chr6:109954114T>A|ENST00000285397.5|-|12|1348|c.1266A>T|c.(1264-1266)taA>taT|p.*422Y|0.33915211970074816|AGACAGATAGTTAGTTAGTCA|AK9_ENST00000368948.2_INTRON/AK9_ENST00000424296.2_INTRON/AK9_ENST00000341338.6_INTRON|||||||||||||||||||||||||||||||||CH471051|NM_145025.4|NP_659462.1|HGNC:33814|adenylate_%20_kinase_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C6orf224_%2C__%20_AKD2_%2C__%20_C6orf199_%2C__%20_AKD1|"chromosome_%20_6_%20_open_%20_reading_%20_frame_%20_224"_%2C__%20_"adenylate_%20_kinase_%20_domain_%20_containing_%20_2"_%2C__%20_"chromosome_%20_6_%20_open_%20_reading_%20_frame_%20_199"_%2C__%20_"adenylate_%20_kinase_%20_domain_%20_containing_%20_1"|FLJ42177_%2C__%20_FLJ25791_%2C__%20_dJ70A9.1_%2C__%20_MGC26954||6q21|2015-10-15|2013-04-29|2013-04-29|AK131244_%2C__%20_BC146443_%2C__%20_BC087860|2.7.4.3|221264|ENSG00000155085|23416111|NM_001145128|356|Adenylate_%20_kinases|CCDS5077_%2C__%20_CCDS55048|OTTHUMG00000157658|221264|615358|NM_001145128|Q5TCS8|ENSG00000155085||KAD9_HUMAN||A6NL75_%7C_B2RDJ0_%7C_B6ZDM7_%7C_Q3MIS4_%7C_Q5I0W8_%7C_Q6ZNF1_%7C_Q6ZVR7_%7C_Q8N7C6_%7C_Q8WW00_%7C_Q96NF4|Q5TCS8|ADP_%20_phosphorylation_%20_(GO:0006757)_%7C_AMP_%20_phosphorylation_%20_(GO:0006756)_%7C_CDP_%20_phosphorylation_%20_(GO:0061508)_%7C_CMP_%20_phosphorylation_%20_(GO:0061566)_%7C_dADP_%20_phosphorylation_%20_(GO:0006174)_%7C_dAMP_%20_phosphorylation_%20_(GO:0061565)_%7C_dCDP_%20_phosphorylation_%20_(GO:0061570)_%7C_dCMP_%20_phosphorylation_%20_(GO:0061567)_%7C_dGDP_%20_phosphorylation_%20_(GO:0006186)_%7C_GDP_%20_phosphorylation_%20_(GO:0061568)_%7C_TDP_%20_phosphorylation_%20_(GO:0061571)_%7C_UDP_%20_phosphorylation_%20_(GO:0061569)|cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_membrane_%20_(GO:0031965)_%7C_nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_nucleoside_%20_diphosphate_%20_kinase_%20_activity_%20_(GO:0004550)_%7C_nucleoside_%20_phosphate_%20_kinase_%20_activity_%20_(GO:0050145)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 117249986 indel.92725 C CA . PASS FUNCOTATION=[RFX6|hg19|chr6|117249986|117249987|FRAME_SHIFT_INS||INS|-|-|A|g.chr6:117249986_117249987insA|ENST00000332958.2|+|18|2479|c.2463_2464insA|c.(2464-2466)gttfs|p.V822fs|0.3925|GAATCAGCACGTTTCTGTCA||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471051|NM_173560.3|NP_775831.2|HGNC:21478|regulatory_%20_factor_%20_X6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|RFXDC1|"regulatory_%20_factor_%20_X_%20_domain_%20_containing_%20_1"_%2C__%20_"regulatory_%20_factor_%20_X_%2C__%20_6"|MGC33442_%2C__%20_dJ955L16.1|"DNA-binding_%20_protein_%20_RFX6"|6q22.1|2016-10-05|2008-08-04|2015-11-30|BC039248||222546|ENSG00000185002||NM_173560|1153|Regulatory_%20_factor_%20_X_%20_family|CCDS5113|OTTHUMG00000015449|222546|612659|NM_173560|Q8HWS3|ENSG00000185002|uc003pxm.4|RFX6_HUMAN||Q5T6B3|Q8HWS3|endocrine_%20_pancreas_%20_development_%20_(GO:0031018)_%7C_glucose_%20_homeostasis_%20_(GO:0042593)_%7C_pancreatic_%20_A_%20_cell_%20_differentiation_%20_(GO:0003310)_%7C_pancreatic_%20_D_%20_cell_%20_differentiation_%20_(GO:0003311)_%7C_pancreatic_%20_epsilon_%20_cell_%20_differentiation_%20_(GO:0090104)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_regulation_%20_of_%20_insulin_%20_secretion_%20_(GO:0050796)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_type_%20_B_%20_pancreatic_%20_cell_%20_differentiation_%20_(GO:0003309)|nucleus_%20_(GO:0005634)|transcription_%20_regulatory_%20_region_%20_DNA_%20_binding_%20_(GO:0044212)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 132874859 exm579084 A G . PASS FUNCOTATION=[TAAR8|hg19|chr6|132874859|132874859|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr6:132874859A>G|ENST00000275200.1|+|1|1028|c.1028A>G|c.(1027-1029)tAa>tGa|p.*343*|0.26184538653366585|TTTTTAGAATAAGTTTAAGCA||||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(3)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||BC069166|NM_053278.1|NP_444508.1|HGNC:14964|trace_%20_amine_%20_associated_%20_receptor_%20_8|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GPR102_%2C__%20_TRAR5|"trace_%20_amine_%20_receptor_%20_5"|TA5_%2C__%20_TAR5||6q23.2|2014-11-19|2005-02-24|2005-02-23|AF380193||83551|ENSG00000146385|11574155_%2C__%20_15718104|NM_053278|188|Trace_%20_amine_%20_receptors|CCDS5154|OTTHUMG00000015586|83551|606927|NM_053278|Q969N4|ENSG00000146385|uc011ecj.2|TAAR8_HUMAN||Q5VUQ0|Q969N4|G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_trace-amine_%20_receptor_%20_activity_%20_(GO:0001594)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 133004281 exm579323 A G . PASS FUNCOTATION=[VNN1|hg19|chr6|133004281|133004281|NONSTOP||SNP|A|A|G|g.chr6:133004281A>G|ENST00000367928.4|-|7|1554|c.1540T>C|c.(1540-1542)Tag>Cag|p.*514Q|0.32418952618453867|TCAATATTCTACCAACTTAAT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U39664|NM_004666.2|NP_004657.2|HGNC:12705|vanin_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Tiff66||6q23.2|2016-10-05|||AJ132099|3.5.1.92|8876|ENSG00000112299|9790769||10|Vanins|CCDS5159|OTTHUMG00000015587|8876|603570|NM_004666|O95497|ENSG00000112299|uc003qdo.4|VNN1_HUMAN||A8K310_%7C_Q4JFW6_%7C_Q4VAS7_%7C_Q4VAS8_%7C_Q4VAS9_%7C_Q9UF16_%7C_Q9UJF4|O95497|acute_%20_inflammatory_%20_response_%20_(GO:0002526)_%7C_cellular_%20_component_%20_movement_%20_(GO:0006928)_%7C_chronic_%20_inflammatory_%20_response_%20_(GO:0002544)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1902176)_%7C_pantothenate_%20_metabolic_%20_process_%20_(GO:0015939)_%7C_positive_%20_regulation_%20_of_%20_T_%20_cell_%20_differentiation_%20_in_%20_thymus_%20_(GO:0033089)_%7C_response_%20_to_%20_oxidative_%20_stress_%20_(GO:0006979)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)|anchored_%20_component_%20_of_%20_membrane_%20_(GO:0031225)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|GPI_%20_anchor_%20_binding_%20_(GO:0034235)_%7C_pantetheine_%20_hydrolase_%20_activity_%20_(GO:0017159)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 136603803 kgp16927569 A C . PASS FUNCOTATION=[BCLAF1|hg19|chr6|136603803|136603803|DE_NOVO_START_OUT_FRAME||SNP|A|A|C|g.chr6:136603803A>C|ENST00000531224.1|-|2|||||0.3092269326683292|TGCTCTGAGAAATTAAACTCT|BCLAF1_ENST00000530767.1_DE_NOVO_START_OUT_FRAME/BCLAF1_ENST00000527536.1_DE_NOVO_START_OUT_FRAME/BCLAF1_ENST00000527759.1_DE_NOVO_START_OUT_FRAME/BCLAF1_ENST00000353331.4_DE_NOVO_START_OUT_FRAME/BCLAF1_ENST00000392348.2_FIVE_PRIME_FLANK|Colon(142_%3B_1534_%20_1789_%20_5427_%20_7063_%20_28491)||||||||||||||||||||||||449|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(266)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||D79986|NM_014739.2|NP_055554.1|HGNC:16863|BCL2_%20_associated_%20_transcription_%20_factor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"BCL2-associated_%20_transcription_%20_factor_%20_1"|KIAA0164_%2C__%20_BTF|"BCLAF1_%20_and_%20_THRAP3_%20_family_%20_member_%20_1"|6q23.3|2017-06-09||2016-01-28|AF249273||9774|ENSG00000029363|8724849_%2C__%20_10330179|NM_014739|1420|WTAP_%20_complex|CCDS5177_%2C__%20_CCDS47485_%2C__%20_CCDS47486_%2C__%20_CCDS75525|OTTHUMG00000033323|9774|612588|NM_001077440|Q9NYF8|ENSG00000029363|uc003qgx.1|BCLF1_HUMAN||A2RU75_%7C_B7ZM58_%7C_E1P586_%7C_Q14673_%7C_Q86WU6_%7C_Q86WY0|Q9NYF8|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_DNA-templated_%20_transcription_%2C__%20_initiation_%20_(GO:2000144)_%7C_positive_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001244)_%7C_positive_%20_regulation_%20_of_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:2001022)_%7C_regulation_%20_of_%20_DNA-templated_%20_transcription_%20_in_%20_response_%20_to_%20_stress_%20_(GO:0043620)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 149721528 exm585306 A G . PASS FUNCOTATION=[SUMO4|hg19|chr6|149721528|149721528|START_CODON_SNP||SNP|A|A|G|g.chr6:149721528A>G|ENST00000326669.4|+|1|34|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5411471321695761|GGTGTTCACCATGGCCAACGA|TAB2_ENST00000367456.1_INTRON/TAB2_ENST00000538427.1_INTRON/TAB2_ENST00000286332.5_INTRON/TAB2_ENST00000536230.1_INTRON|||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471051|NM_001002255.1|NP_001002255.1|HGNC:21181|small_%20_ubiquitin-like_%20_modifier_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SMT3H4_%2C__%20_IDDM5|"SMT3_%20_suppressor_%20_of_%20_mif_%20_two_%20_3_%20_homolog_%20_4_%20_(yeast)"_%2C__%20_"SMT3_%20_suppressor_%20_of_%20_mif_%20_two_%20_3_%20_homolog_%20_4_%20_(S._%20_cerevisiae)"_%2C__%20_"insulin-dependent_%20_diabetes_%20_mellitus_%20_5"|dJ281H8.4||6q25.1|2015-09-09|2004-05-19|2013-06-05|||387082|ENSG00000177688|15123604||||CCDS34549|OTTHUMG00000015785|387082|608829|NM_001002255|Q6EEV6|ENSG00000177688|uc003qml.4|SUMO4_HUMAN||A1L3W5|Q6EEV6|protein_%20_sumoylation_%20_(GO:0016925)|nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 149721529 exm585307 T C . PASS FUNCOTATION=[SUMO4|hg19|chr6|149721529|149721529|START_CODON_SNP||SNP|T|T|C|g.chr6:149721529T>C|ENST00000326669.4|+|1|35|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.5411471321695761|GTGTTCACCATGGCCAACGAA|TAB2_ENST00000367456.1_INTRON/TAB2_ENST00000538427.1_INTRON/TAB2_ENST00000286332.5_INTRON/TAB2_ENST00000536230.1_INTRON|||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471051|NM_001002255.1|NP_001002255.1|HGNC:21181|small_%20_ubiquitin-like_%20_modifier_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SMT3H4_%2C__%20_IDDM5|"SMT3_%20_suppressor_%20_of_%20_mif_%20_two_%20_3_%20_homolog_%20_4_%20_(yeast)"_%2C__%20_"SMT3_%20_suppressor_%20_of_%20_mif_%20_two_%20_3_%20_homolog_%20_4_%20_(S._%20_cerevisiae)"_%2C__%20_"insulin-dependent_%20_diabetes_%20_mellitus_%20_5"|dJ281H8.4||6q25.1|2015-09-09|2004-05-19|2013-06-05|||387082|ENSG00000177688|15123604||||CCDS34549|OTTHUMG00000015785|387082|608829|NM_001002255|Q6EEV6|ENSG00000177688|uc003qml.4|SUMO4_HUMAN||A1L3W5|Q6EEV6|protein_%20_sumoylation_%20_(GO:0016925)|nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 149721815 exm585324 A G . PASS FUNCOTATION=[SUMO4|hg19|chr6|149721815|149721815|NONSTOP||SNP|A|A|G|g.chr6:149721815A>G|ENST00000326669.4|+|1|321|c.288A>G|c.(286-288)tgA>tgG|p.*96W|0.39650872817955113|GTGTCTACTGAAAAGGGAACC|TAB2_ENST00000367456.1_INTRON/TAB2_ENST00000538427.1_INTRON/TAB2_ENST00000286332.5_INTRON/TAB2_ENST00000536230.1_INTRON|||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471051|NM_001002255.1|NP_001002255.1|HGNC:21181|small_%20_ubiquitin-like_%20_modifier_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SMT3H4_%2C__%20_IDDM5|"SMT3_%20_suppressor_%20_of_%20_mif_%20_two_%20_3_%20_homolog_%20_4_%20_(yeast)"_%2C__%20_"SMT3_%20_suppressor_%20_of_%20_mif_%20_two_%20_3_%20_homolog_%20_4_%20_(S._%20_cerevisiae)"_%2C__%20_"insulin-dependent_%20_diabetes_%20_mellitus_%20_5"|dJ281H8.4||6q25.1|2015-09-09|2004-05-19|2013-06-05|||387082|ENSG00000177688|15123604||||CCDS34549|OTTHUMG00000015785|387082|608829|NM_001002255|Q6EEV6|ENSG00000177688|uc003qml.4|SUMO4_HUMAN||A1L3W5|Q6EEV6|protein_%20_sumoylation_%20_(GO:0016925)|nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 160241547 exm2243431 T C . PASS FUNCOTATION=[PNLDC1|hg19|chr6|160241547|160241547|NONSTOP||SNP|T|T|C|g.chr6:160241547T>C|ENST00000392167.3|+|19|1628|c.1594T>C|c.(1594-1596)Tga>Cga|p.*532R|0.5336658354114713|ATCTGGTACCTGAGTGCAGCG|PNLDC1_ENST00000610273.1_NONSTOP_p.*521R|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471051|NM_001271862.1|NP_001258791.1|HGNC:21185|PARN_%20_like_%2C__%20_ribonuclease_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"poly(A)-specific_%20_ribonuclease_%20_(PARN)-like_%20_domain_%20_containing_%20_1"|FLJ40240_%2C__%20_dJ195P10.2||6q25.3|2016-04-25||2015-11-18|AK097559||154197|ENSG00000146453||NM_173516|||CCDS5271_%2C__%20_CCDS64561|OTTHUMG00000015941|154197||NM_001271862|Q8NA58|ENSG00000146453|uc003qsy.3|PNDC1_HUMAN||Q5TAP7_%7C_Q8N7X5|Q8NA58||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)|nucleic_%20_acid_%20_binding_%20_(GO:0003676)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 166308924 rs10806835 G A . PASS FUNCOTATION=[SDIM1|hg19|chr6|166308924|166308924|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr6:166308924G>A|ENST00000545867.1|-|1|||||0.5411471321695761|AGGATCCTCCGTGGTGGCTTT|PDE10A_ENST00000535229.1_INTRON|||||||||||||||||||||||||||||||||AL590482|||HGNC:38749|stress_%20_responsive_%20_DNAJB4_%20_interacting_%20_membrane_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||6q27|2011-01-31|||AK129633||100505705||21255413|XM_003118900|||||100505705|||Q6ZPB5|||SDIM1_HUMAN|||Q6ZPB5|cellular_%20_response_%20_to_%20_stress_%20_(GO:0033554)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_death_%20_(GO:0060548)_%7C_neuron_%20_apoptotic_%20_process_%20_(GO:0051402)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 20685486 indel.94825 G GA . PASS FUNCOTATION=[ABCB5|hg19|chr7|20685486|20685487|FRAME_SHIFT_INS||INS|-|-|A|g.chr7:20685486_20685487insA|ENST00000404938.2|+|8|1438|c.786_787insA|c.(787-789)gagfs|p.E263fs|0.3725|TAGGGCCCAGGAGAAAGAAC|ABCB5_ENST00000258738.6_FIVE_PRIME_FLANK/ABCB5_ENST00000406935.1_FIVE_PRIME_FLANK/ABCB5_ENST00000443026.2_FIVE_PRIME_FLANK/ABCB5_ENST00000477094.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||157|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_lung(1)_%7C_oesophagus(3)_%7C_pancreas(22)|||||||GU437216|NM_001163941.1|NP_001157413.1|HGNC:46|ATP_%20_binding_%20_cassette_%20_subfamily_%20_B_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ATP-binding_%20_cassette_%2C__%20_sub-family_%20_B_%20_(MDR/TAP)_%2C__%20_member_%20_5"|EST422562_%2C__%20_ABCB5beta_%2C__%20_ABCB5alpha|"P-glycoprotein_%20_ABCB5"_%2C__%20_"ATP-binding_%20_cassette_%20_protein"|7p21.1|2016-10-05||2015-11-13|U66692||340273|ENSG00000004846|8894702_%2C__%20_12960149|NM_178559|806|ATP_%20_binding_%20_cassette_%20_subfamily_%20_B|CCDS5371_%2C__%20_CCDS55090_%2C__%20_CCDS55091_%2C__%20_CCDS55092|OTTHUMG00000094789|340273|611785|NM_001163941|Q2M3G0|ENSG00000004846|uc010kuh.4|ABCB5_HUMAN||A4D131_%7C_A7BKA4_%7C_B5MD19_%7C_B7WPL1_%7C_F8QQP8_%7C_F8QQP9_%7C_J3KQ04_%7C_Q2M3I5_%7C_Q5I5Q7_%7C_Q5I5Q8_%7C_Q6KG50_%7C_Q6XFQ5_%7C_Q8IXA1|Q2M3G0|antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_endogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_via_%20_ER_%20_pathway_%2C__%20_TAP-dependent_%20_(GO:0002485)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_endogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_Ib_%20_via_%20_ER_%20_pathway_%2C__%20_TAP-dependent_%20_(GO:0002489)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_protein_%20_antigen_%20_via_%20_MHC_%20_class_%20_Ib_%2C__%20_TAP-dependent_%20_(GO:0002481)_%7C_cell_%20_differentiation_%20_(GO:0030154)_%7C_compound_%20_eye_%20_corneal_%20_lens_%20_development_%20_(GO:0048058)_%7C_positive_%20_regulation_%20_of_%20_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_(GO:0002591)_%7C_regulation_%20_of_%20_membrane_%20_potential_%20_(GO:0042391)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ATP_%20_binding_%20_(GO:0005524)_%7C_ATPase_%20_activity_%2C__%20_coupled_%20_to_%20_transmembrane_%20_movement_%20_of_%20_substances_%20_(GO:0042626)_%7C_efflux_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015562)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 23338972 exm609536 A G . PASS FUNCOTATION=[MALSU1|hg19|chr7|23338972|23338972|START_CODON_SNP||SNP|A|A|G|g.chr7:23338972A>G|ENST00000466681.1|+|1|154|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6708229426433915|GGCTGCTGCTATGGGGCCGGG|MALSU1_ENST00000479974.1_INTRON|||||||||||||||||||||||||||||||||CH471073|NM_138446.1|NP_612455.1|HGNC:21721|mitochondrial_%20_assembly_%20_of_%20_ribosomal_%20_large_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C7orf30|"chromosome_%20_7_%20_open_%20_reading_%20_frame_%20_30"|mtRsfA||7p15.3|2014-11-19|2012-02-20|2012-02-20|BC012331||115416|ENSG00000156928|22238376_%2C__%20_22238375|NM_138446|||CCDS5381|OTTHUMG00000128443|115416|614624|NM_138446|Q96EH3|ENSG00000156928|uc003swd.2|MASU1_HUMAN||A4D154|Q96EH3|negative_%20_regulation_%20_of_%20_mitochondrial_%20_translation_%20_(GO:0070130)_%7C_ribosomal_%20_large_%20_subunit_%20_biogenesis_%20_(GO:0042273)|mitochondrion_%20_(GO:0005739)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 23749905 exm609783 A T . PASS FUNCOTATION=[STK31|hg19|chr7|23749905|23749905|START_CODON_SNP||SNP|A|A|T|g.chr7:23749905A>T|ENST00000355870.3|+|1|120|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.6234413965087282|AAAGTCCAGTATGTGGGTCCA|STK31_ENST00000433467.2_START_CODON_SNP_p.M1L/STK31_ENST00000354639.3_FIVE_PRIME_FLANK/STK31_ENST00000428484.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||453|biliary_tract(2)_%7C_breast(27)_%7C_central_nervous_system(60)_%7C_haematopoietic_and_lymphoid_tissue(54)_%7C_kidney(46)_%7C_large_intestine(71)_%7C_lung(52)_%7C_ovary(52)_%7C_pancreas(22)_%7C_stomach(54)_%7C_testis(13)|||||||BC059374|NM_031414.4|NP_113602.2|HGNC:11407|serine/threonine_%20_kinase_%20_31|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||TDRD8_%2C__%20_SgK396||7p15.3|2014-11-19|||AF285599||56164|ENSG00000196335|11279525|NM_031414|780|Tudor_%20_domain_%20_containing|CCDS5386_%2C__%20_CCDS43556_%2C__%20_CCDS59049|OTTHUMG00000023053|56164|605790|NM_001260504|Q9BXU1|ENSG00000196335|uc003sws.6|STK31_HUMAN||B4DZ06_%7C_B7WPP5_%7C_C9J4F9_%7C_Q6PCD3_%7C_Q9BXH8|Q9BXU1||acrosomal_%20_vesicle_%20_(GO:0001669)|ATP_%20_binding_%20_(GO:0005524)_%7C_hydrolase_%20_activity_%2C__%20_acting_%20_on_%20_ester_%20_bonds_%20_(GO:0016788)_%7C_nucleic_%20_acid_%20_binding_%20_(GO:0003676)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 27181455 indel.95055 CAG C . PASS FUNCOTATION=[HOXA5|hg19|chr7|27181456|27181457|NONSTOP||DEL|AG|AG|-|g.chr7:27181456_27181457delAG|ENST00000222726.3|-|2|873_874|c.810_811delCT|c.(808-810)cccfs|p.*271fs|0.4651741293532338|TCAGATACTCAGGGACGGAAGG|RP1-170O19.22_ENST00000467897.2_RNA/HOXA-AS3_ENST00000521197.1_RNA/HOXA-AS3_ENST00000518848.1_RNA/HOXA5_ENST00000520854.1_INTRON/HOXA3_ENST00000521401.1_FIVE_PRIME_FLANK|Colon(119_%3B_75_%20_2200_%20_7557_%20_42868)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M26679|NM_019102.3|NP_061975.2|HGNC:5106|homeobox_%20_A5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HOX1C_%2C__%20_HOX1|"homeo_%20_box_%20_A5"|||7p15.2|2015-09-07||2005-12-22|||3202|ENSG00000106004|1973146_%2C__%20_1358459||518|HOXL_%20_subclass_%20_homeoboxes|CCDS5406|OTTHUMG00000023214|3202|142952|NM_019102|P20719|ENSG00000106004|uc003syn.2|HXA5_HUMAN||A4D179_%7C_O43367_%7C_Q96CY6|P20719|anterior/posterior_%20_pattern_%20_specification_%20_(GO:0009952)_%7C_bronchiole_%20_development_%20_(GO:0060435)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_cell-cell_%20_signaling_%20_involved_%20_in_%20_mammary_%20_gland_%20_development_%20_(GO:0060764)_%7C_embryonic_%20_skeletal_%20_system_%20_morphogenesis_%20_(GO:0048704)_%7C_epithelial_%20_tube_%20_branching_%20_involved_%20_in_%20_lung_%20_morphogenesis_%20_(GO:0060441)_%7C_intestinal_%20_epithelial_%20_cell_%20_maturation_%20_(GO:0060574)_%7C_lung_%20_alveolus_%20_development_%20_(GO:0048286)_%7C_lung_%20_goblet_%20_cell_%20_differentiation_%20_(GO:0060480)_%7C_lung-associated_%20_mesenchyme_%20_development_%20_(GO:0060484)_%7C_mammary_%20_gland_%20_alveolus_%20_development_%20_(GO:0060749)_%7C_mammary_%20_gland_%20_epithelial_%20_cell_%20_differentiation_%20_(GO:0060644)_%7C_mesenchymal-epithelial_%20_cell_%20_signaling_%20_(GO:0060638)_%7C_multicellular_%20_organism_%20_growth_%20_(GO:0035264)_%7C_negative_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0016525)_%7C_negative_%20_regulation_%20_of_%20_erythrocyte_%20_differentiation_%20_(GO:0045647)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_myeloid_%20_cell_%20_differentiation_%20_(GO:0045639)_%7C_positive_%20_regulation_%20_of_%20_receptor_%20_biosynthetic_%20_process_%20_(GO:0010870)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_regulation_%20_of_%20_mammary_%20_gland_%20_epithelial_%20_cell_%20_proliferation_%20_(GO:0033599)_%7C_respiratory_%20_system_%20_process_%20_(GO:0003016)_%7C_thyroid_%20_gland_%20_development_%20_(GO:0030878)_%7C_trachea_%20_cartilage_%20_morphogenesis_%20_(GO:0060535)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 33134847 var_7_33134847 CA C . PASS FUNCOTATION=[RP9|hg19|chr7|33134848|33134848|NONSTOP||DEL|A|A|-|g.chr7:33134848delA|ENST00000297157.3|-|6|683|c.664delT|c.(664-666)tgafs|p.*222fs|0.4488778054862843|CATCCTTGTCACTCTGAGTCA||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC025928|NM_203288.1|NP_976033.1|HGNC:10288|RP9_%2C__%20_pre-mRNA_%20_splicing_%20_factor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"retinitis_%20_pigmentosa_%20_9_%20_(autosomal_%20_dominant)"|PAP-1|"Pim-1_%20_kinase_%20_associated_%20_protein"|7p14.3|2017-07-07||2017-07-07|AX016710||6100|ENSG00000164610|8513323_%2C__%20_15474994|NM_203288|||CCDS5440|OTTHUMG00000152988|6100|607331|NM_203288|Q8TA86|ENSG00000164610|uc003tdm.4|RP9_HUMAN|||Q8TA86|cognition_%20_(GO:0050890)_%7C_RNA_%20_splicing_%20_(GO:0008380)|nucleus_%20_(GO:0005634)_%7C_signal_%20_recognition_%20_particle_%20_receptor_%20_complex_%20_(GO:0005785)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 48278997 indel.95654 C CGGTA . PASS FUNCOTATION=[ABCA13|hg19|chr7|48278997|48278998|FRAME_SHIFT_INS||INS|-|-|GGTA|g.chr7:48278997_48278998insGGTA|ENST00000435803.1|+|9|1081|c.1057_1058insGGTA|c.(1057-1059)caafs|p.Q353fs|0.495|CGAGTCTACCAACAGGTGCT||||||||||||||||||||||||||107|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(45)_%7C_large_intestine(11)_%7C_oesophagus(16)_%7C_pancreas(22)|||||||AY204751|NM_152701.3|NP_689914.2|HGNC:14638|ATP_%20_binding_%20_cassette_%20_subfamily_%20_A_%20_member_%20_13|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ATP-binding_%20_cassette_%2C__%20_sub-family_%20_A_%20_(ABC1)_%2C__%20_member_%20_13"|FLJ33876_%2C__%20_FLJ33951||7p12.3|2015-11-13||2015-11-13|AY204751||154664|ENSG00000179869|12697998|NM_152701|805|ATP_%20_binding_%20_cassette_%20_subfamily_%20_A|CCDS47584|OTTHUMG00000155840|154664|607807|NM_152701|Q86UQ4|ENSG00000179869|uc003toq.2|ABCAD_HUMAN||K9LC76_%7C_K9LC79_%7C_K9LCX7_%7C_K9LDK8_%7C_K9LDY4_%7C_Q6ZTT7_%7C_Q86WI2_%7C_Q8N248|Q86UQ4|transport_%20_(GO:0006810)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|ATP_%20_binding_%20_(GO:0005524)_%7C_ATPase_%20_activity_%20_(GO:0016887)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 54610426 exm621856 G A . PASS FUNCOTATION=[VSTM2A|hg19|chr7|54610426|54610426|START_CODON_SNP||SNP|G|G|A|g.chr7:54610426G>A|ENST00000404951.1|+|1|318|c.3G>A|c.(1-3)atG>atA|p.M1I|0.4837905236907731|TTTTTGGAATGATGGGGATCT|VSTM2A_ENST00000407838.3_START_CODON_SNP_p.M1I/VSTM2A_ENST00000302287.3_START_CODON_SNP_p.M1I/VSTM2A_ENST00000402613.3_START_CODON_SNP_p.M1I/VSTM2A_ENST00000402026.2_FIVE_PRIME_UTR/VSTM2A_ENST00000498834.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||1|large_intestine(1)|||||||AC069313|||HGNC:28499|V-set_%20_and_%20_transmembrane_%20_domain_%20_containing_%20_2A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|VSTM2|"V-set_%20_and_%20_transmembrane_%20_domain_%20_containing_%20_2"|MGC33530||7p11.2|2014-11-19|2007-08-10|2007-08-10|BC028404||222008|ENSG00000170419|12477932|NM_182546|590|V-set_%20_domain_%20_containing|CCDS5512_%2C__%20_CCDS75604_%2C__%20_CCDS83185|OTTHUMG00000129271|222008||NM_001301009|Q8TAG5|ENSG00000170419|uc010kzf.4|VTM2A_HUMAN||A4D2E9_%7C_B5MC94|Q8TAG5||extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 64453403 exm623577 A T . PASS FUNCOTATION=[ERV3-1|hg19|chr7|64453403|64453403|START_CODON_SNP||SNP|A|A|T|g.chr7:64453403A>T|ENST00000394323.2|-|2|503|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.46384039900249374|CATACCCAGCATGGACAGAAA|ZNF117_ENST00000282869.6_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||M12140|NM_001007253.3|NP_001007254.2|HGNC:3454|endogenous_%20_retrovirus_%20_group_%20_3_%20_member_%20_1_%2C__%20_envelope|Approved|endogenous_%20_retrovirus|other|ERV3|"endogenous_%20_retroviral_%20_sequence_%20_3_%20_(includes_%20_zinc_%20_finger_%20_protein_%20_H-plk/HPF9)"_%2C__%20_"endogenous_%20_retroviral_%20_sequence_%20_3"_%2C__%20_"endogenous_%20_retrovirus_%20_group_%20_3_%2C__%20_member_%20_1"_%2C__%20_"endogenous_%20_retrovirus_%20_group_%20_3_%20_member_%20_1"|H-PLK_%2C__%20_HERV-R_%2C__%20_ERV-R_%2C__%20_envR||7q11.21|2017-03-30|2011-05-05|2017-03-30|AK295189||2086|ENSG00000213462|2115127_%2C__%20_6495650_%2C__%20_21542922|NM_001007253|1412|Envelope_%20_ERV_%20_derived_%20_genes|CCDS47595|OTTHUMG00000165023|2086|131170|NM_001007253|Q14264|ENSG00000213462|uc011kdr.3|ENR1_HUMAN|||Q14264||extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_viral_%20_envelope_%20_(GO:0019031)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 73442483 seq_chr7_73442483 G T . PASS FUNCOTATION=[ELN|hg19|chr7|73442483|73442483|DE_NOVO_START_IN_FRAME||SNP|G|G|T|g.chr7:73442483G>T|ENST00000252034.7|+|1|||||0.683291770573566|GATAAAACGAGGTGCGGAGAG|ELN_ENST00000414324.1_DE_NOVO_START_IN_FRAME/ELN_ENST00000320492.7_DE_NOVO_START_IN_FRAME/ELN_ENST00000445912.1_DE_NOVO_START_IN_FRAME/ELN_ENST00000380562.4_DE_NOVO_START_IN_FRAME/ELN_ENST00000358929.4_DE_NOVO_START_IN_FRAME/ELN_ENST00000320399.6_FIVE_PRIME_FLANK/ELN_ENST00000357036.5_FIVE_PRIME_FLANK/ELN_ENST00000380553.4_FIVE_PRIME_FLANK/ELN_ENST00000380575.4_FIVE_PRIME_FLANK/ELN_ENST00000380576.5_FIVE_PRIME_FLANK/ELN_ENST00000380584.4_FIVE_PRIME_FLANK/ELN_ENST00000429192.1_FIVE_PRIME_FLANK/ELN_ENST00000458204.1_FIVE_PRIME_FLANK||elastin|2006|7|7q11.23|yes||B-ALL|||L|Dom|T|PAX5|yes|"Supravalvular_%20_Aortic_%20_Stenosis_%2C__%20_Cutis_%20_laxa_%20__%2C__%20_Williams-Beuren_%20_Syndrome"|||||||||237|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(70)_%7C_pancreas(22)|||||||X15603|NM_001278915.1|NP_001265844.1|HGNC:3327|elastin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||WBS_%2C__%20_WS_%2C__%20_SVAS|"tropoelastin"_%2C__%20_"supravalvular_%20_aortic_%20_stenosis"_%2C__%20_"Williams-Beuren_%20_syndrome"|7q11.23|2016-10-05||2008-08-01|||2006|ENSG00000049540|8096434|NM_000501|||CCDS5562_%2C__%20_CCDS43598_%2C__%20_CCDS43599_%2C__%20_CCDS47611_%2C__%20_CCDS47612_%2C__%20_CCDS64673_%2C__%20_CCDS64674_%2C__%20_CCDS64675_%2C__%20_CCDS64676_%2C__%20_CCDS64677_%2C__%20_CCDS64678_%2C__%20_CCDS75616_%2C__%20_CCDS75617|OTTHUMG00000150229|2006|130160|NM_000501|P15502|ENSG00000049540|uc003tzn.5|ELN_HUMAN||B3KTS6_%7C_O15336_%7C_O15337_%7C_Q14233_%7C_Q14234_%7C_Q14235_%7C_Q14238_%7C_Q6P0L4_%7C_Q6ZWJ6_%7C_Q75MU5_%7C_Q7Z316_%7C_Q7Z3F5_%7C_Q9UMF5|P15502|blood_%20_circulation_%20_(GO:0008015)_%7C_blood_%20_vessel_%20_remodeling_%20_(GO:0001974)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_extracellular_%20_matrix_%20_disassembly_%20_(GO:0022617)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_organ_%20_morphogenesis_%20_(GO:0009887)_%7C_regulation_%20_of_%20_actin_%20_filament_%20_polymerization_%20_(GO:0030833)_%7C_respiratory_%20_gaseous_%20_exchange_%20_(GO:0007585)_%7C_skeletal_%20_muscle_%20_tissue_%20_development_%20_(GO:0007519)_%7C_stress_%20_fiber_%20_assembly_%20_(GO:0043149)|elastic_%20_fiber_%20_(GO:0071953)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_mitochondrion_%20_(GO:0005739)_%7C_proteinaceous_%20_extracellular_%20_matrix_%20_(GO:0005578)|extracellular_%20_matrix_%20_binding_%20_(GO:0050840)_%7C_extracellular_%20_matrix_%20_constituent_%20_conferring_%20_elasticity_%20_(GO:0030023)_%7C_extracellular_%20_matrix_%20_structural_%20_constituent_%20_(GO:0005201)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 75932030 exm628281 A C . PASS FUNCOTATION=[HSPB1|hg19|chr7|75932030|75932030|START_CODON_SNP||SNP|A|A|C|g.chr7:75932030A>C|ENST00000248553.6|+|1|170|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.6783042394014963|GTCAGCCAGCATGACCGAGCG|HSPB1_ENST00000429938.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||615|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||Z23090|NM_001540.3|NP_001531.1|HGNC:5246|heat_%20_shock_%20_protein_%20_family_%20_B_%20_(small)_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"heat_%20_shock_%20_27kD_%20_protein_%20_1"_%2C__%20_"heat_%20_shock_%20_27kDa_%20_protein_%20_1"|HSP27_%2C__%20_HSP28_%2C__%20_Hs.76067_%2C__%20_Hsp25_%2C__%20_CMT2F||7q11.23|2017-03-24||2015-11-19|X54079||3315|ENSG00000106211|2243808_%2C__%20_9344682||585|Small_%20_heat_%20_shock_%20_proteins|CCDS5583|OTTHUMG00000023228|3315|602195|NM_001540|P04792|ENSG00000106211|uc003uew.4|HSPB1_HUMAN||B2R4N8_%7C_Q6FI47_%7C_Q96C20_%7C_Q96EI7_%7C_Q9UC31_%7C_Q9UC34_%7C_Q9UC35_%7C_Q9UC36|P04792|cell_%20_death_%20_(GO:0008219)_%7C_cellular_%20_component_%20_movement_%20_(GO:0006928)_%7C_cellular_%20_response_%20_to_%20_vascular_%20_endothelial_%20_growth_%20_factor_%20_stimulus_%20_(GO:0035924)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_mRNA_%20_metabolic_%20_process_%20_(GO:0016071)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1902176)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_platelet_%20_aggregation_%20_(GO:0070527)_%7C_positive_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0045766)_%7C_positive_%20_regulation_%20_of_%20_blood_%20_vessel_%20_endothelial_%20_cell_%20_migration_%20_(GO:0043536)_%7C_positive_%20_regulation_%20_of_%20_endothelial_%20_cell_%20_chemotaxis_%20_(GO:2001028)_%7C_positive_%20_regulation_%20_of_%20_endothelial_%20_cell_%20_chemotaxis_%20_by_%20_VEGF-activated_%20_vascular_%20_endothelial_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038033)_%7C_positive_%20_regulation_%20_of_%20_interleukin-1_%20_beta_%20_production_%20_(GO:0032731)_%7C_positive_%20_regulation_%20_of_%20_tumor_%20_necrosis_%20_factor_%20_biosynthetic_%20_process_%20_(GO:0042535)_%7C_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043122)_%7C_regulation_%20_of_%20_translational_%20_initiation_%20_(GO:0006446)_%7C_response_%20_to_%20_unfolded_%20_protein_%20_(GO:0006986)_%7C_response_%20_to_%20_virus_%20_(GO:0009615)_%7C_retina_%20_homeostasis_%20_(GO:0001895)_%7C_RNA_%20_metabolic_%20_process_%20_(GO:0016070)|cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_proteasome_%20_complex_%20_(GO:0000502)_%7C_Z_%20_disc_%20_(GO:0030018)|identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_protein_%20_kinase_%20_C_%20_binding_%20_(GO:0005080)_%7C_protein_%20_kinase_%20_C_%20_inhibitor_%20_activity_%20_(GO:0008426)_%7C_ubiquitin_%20_binding_%20_(GO:0043130)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 93551452 exm634970 G C . PASS FUNCOTATION=[GNG11|hg19|chr7|93551452|93551452|START_CODON_SNP||SNP|G|G|C|g.chr7:93551452G>C|ENST00000248564.5|+|1|442|c.3G>C|c.(1-3)atG>atC|p.M1I|0.5561097256857855|GGGCGAAAATGCCTGCCCTTC||||||||||||||||||||||||||580|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(488)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_soft_tissue(1)|||||||U31384|NM_004126.3|NP_004117.1|HGNC:4403|G_%20_protein_%20_subunit_%20_gamma_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"guanine_%20_nucleotide_%20_binding_%20_protein_%20_(G_%20_protein)_%2C__%20_gamma_%20_11"|GNGT11|"G_%20_protein_%20_gamma-11_%20_subunit"_%2C__%20_"guanine_%20_nucleotide-binding_%20_protein_%20_G(I)/G(S)/G(O)_%20_gamma-11_%20_subunit"|7q21.3|2016-10-05||2016-03-03|||2791|ENSG00000127920|7665596|NM_004126|1432|G_%20_protein_%20_subunits_%20_gamma|CCDS5634|OTTHUMG00000023411|2791|604390|NM_004126|P61952|ENSG00000127920|uc003und.4|GBG11_HUMAN||P50152|P61952|cellular_%20_response_%20_to_%20_glucagon_%20_stimulus_%20_(GO:0071377)_%7C_energy_%20_reserve_%20_metabolic_%20_process_%20_(GO:0006112)_%7C_G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)_%7C_GTP_%20_catabolic_%20_process_%20_(GO:0006184)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|heterotrimeric_%20_G-protein_%20_complex_%20_(GO:0005834)_%7C_plasma_%20_membrane_%20_(GO:0005886)|GTPase_%20_activity_%20_(GO:0003924)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 99264234 indel.96884 T TA . PASS FUNCOTATION=[CYP3A5|hg19|chr7|99264234|99264235|FRAME_SHIFT_INS||INS|-|-|A|g.chr7:99264234_99264235insA|ENST00000222982.4|-|6|611|c.510_511insT|c.(511-513)accfs|p.T171fs|0.5025|CTTTCAAGGTGACAGGCTTG|CYP3A5_ENST00000343703.5_FRAME_SHIFT_INS_p.T161fs/CYP3A5_ENST00000339843.2_THREE_PRIME_UTR|||||||||||||||||||||||||173|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(61)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_skin(43)_%7C_soft_tissue(22)|||||||S74700|NM_000777.3|NP_000768.1|HGNC:2638|cytochrome_%20_P450_%20_family_%20_3_%20_subfamily_%20_A_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"cytochrome_%20_P450_%2C__%20_subfamily_%20_IIIA_%20_(niphedipine_%20_oxidase)_%2C__%20_polypeptide_%20_5"_%2C__%20_"cytochrome_%20_P450_%2C__%20_family_%20_3_%2C__%20_subfamily_%20_A_%2C__%20_polypeptide_%20_5"|PCN3_%2C__%20_P450PCN3_%2C__%20_CP35||7q22.1|2016-10-05||2015-12-09|L26985||1577|ENSG00000106258|||1002|Cytochrome_%20_P450_%20_family_%20_3|CCDS5672_%2C__%20_CCDS55134|OTTHUMG00000156724|1577|605325|NM_000777|P20815|ENSG00000106258|uc003urq.4|CP3A5_HUMAN|ado-trastuzumab_%20_emtansine(DB05773)_%7C_Alfentanil(DB00802)_%7C_Alprazolam(DB00404)_%7C_Amiodarone(DB01118)_%7C_Amitriptyline(DB00321)_%7C_Amlodipine(DB00381)_%7C_Amprenavir(DB00701)_%7C_Apixaban(DB06605)_%7C_Aprepitant(DB00673)_%7C_Argatroban(DB00278)_%7C_Aripiprazole(DB01238)_%7C_Artemether(DB06697)_%7C_Astemizole(DB00637)_%7C_Atorvastatin(DB01076)_%7C_Axitinib(DB06626)_%7C_Azelastine(DB00972)_%7C_Beclomethasone(DB00394)_%7C_Boceprevir(DB08873)_%7C_Brentuximab_%20_vedotin(DB08870)_%7C_Buprenorphine(DB00921)_%7C_Buspirone(DB00490)_%7C_Cabazitaxel(DB06772)_%7C_Caffeine(DB00201)_%7C_Carbamazepine(DB00564)_%7C_Chloramphenicol(DB00446)_%7C_Chloroquine(DB00608)_%7C_Chlorphenamine(DB01114)_%7C_Cilostazol(DB01166)_%7C_Cimetidine(DB00501)_%7C_Ciprofloxacin(DB00537)_%7C_Cisapride(DB00604)_%7C_Clarithromycin(DB01211)_%7C_Clonidine(DB00575)_%7C_Clopidogrel(DB00758)_%7C_Cocaine(DB00907)_%7C_Codeine(DB00318)_%7C_Crizotinib(DB08865)_%7C_Cyclophosphamide(DB00531)_%7C_Cyclosporine(DB00091)_%7C_Dapsone(DB00250)_%7C_Dasatinib(DB01254)_%7C_Daunorubicin(DB00694)_%7C_Delavirdine(DB00705)_%7C_Dexamethasone(DB01234)_%7C_Dextromethorphan(DB00514)_%7C_Diazepam(DB00829)_%7C_Diltiazem(DB00343)_%7C_Disulfiram(DB00822)_%7C_Docetaxel(DB01248)_%7C_Dolutegravir(DB08930)_%7C_Domperidone(DB01184)_%7C_Dutasteride(DB01126)_%7C_Enzalutamide(DB08899)_%7C_Eplerenone(DB00700)_%7C_Erlotinib(DB00530)_%7C_Erythromycin(DB00199)_%7C_Estradiol(DB00783)_%7C_Estrone(DB00655)_%7C_Ethosuximide(DB00593)_%7C_Etoposide(DB00773)_%7C_Felodipine(DB01023)_%7C_Fentanyl(DB00813)_%7C_Finasteride(DB01216)_%7C_Fluconazole(DB00196)_%7C_Fluoxetine(DB00472)_%7C_Flutamide(DB00499)_%7C_Fluticasone_%20_Propionate(DB00588)_%7C_Fluvastatin(DB01095)_%7C_Fluvoxamine(DB00176)_%7C_Gefitinib(DB00317)_%7C_Gestodene(DB06730)_%7C_Granisetron(DB00889)_%7C_Halofantrine(DB01218)_%7C_Haloperidol(DB00502)_%7C_Hydrocortisone(DB00741)_%7C_Ifosfamide(DB01181)_%7C_Iloperidone(DB04946)_%7C_Imatinib(DB00619)_%7C_Indinavir(DB00224)_%7C_Irinotecan(DB00762)_%7C_Itraconazole(DB01167)_%7C_Ketoconazole(DB01026)_%7C_Lapatinib(DB01259)_%7C_Lercanidipine(DB00528)_%7C_Levomethadyl_%20_Acetate(DB01227)_%7C_Lidocaine(DB00281)_%7C_Losartan(DB00678)_%7C_Lovastatin(DB00227)_%7C_Methadone(DB00333)_%7C_Midazolam(DB00683)_%7C_Mifepristone(DB00834)_%7C_Modafinil(DB00745)_%7C_Mycophenolate_%20_mofetil(DB00688)_%7C_Nateglinide(DB00731)_%7C_Nefazodone(DB01149)_%7C_Nelfinavir(DB00220)_%7C_Nevirapine(DB00238)_%7C_Nicardipine(DB00622)_%7C_Nifedipine(DB01115)_%7C_Nimodipine(DB00393)_%7C_Nisoldipine(DB00401)_%7C_Nitrendipine(DB01054)_%7C_Norethindrone(DB00717)_%7C_Norfloxacin(DB01059)_%7C_Nortriptyline(DB00540)_%7C_Ondansetron(DB00904)_%7C_Oxazepam(DB00842)_%7C_Oxcarbazepine(DB00776)_%7C_Oxybutynin(DB01062)_%7C_Oxycodone(DB00497)_%7C_Paclitaxel(DB01229)_%7C_Paliperidone(DB01267)_%7C_Pentamidine(DB00738)_%7C_Perampanel(DB08883)_%7C_Phenelzine(DB00780)_%7C_Phenobarbital(DB01174)_%7C_Phenytoin(DB00252)_%7C_Pimozide(DB01100)_%7C_Ponatinib(DB08901)_%7C_Pravastatin(DB00175)_%7C_Praziquantel(DB01058)_%7C_Progesterone(DB00396)_%7C_Propranolol(DB00571)_%7C_Quetiapine(DB01224)_%7C_Quinacrine(DB01103)_%7C_Quinine(DB00468)_%7C_Ranitidine(DB00863)_%7C_Reserpine(DB00206)_%7C_Rifampicin(DB01045)_%7C_Rifapentine(DB01201)_%7C_Risperidone(DB00734)_%7C_Ritonavir(DB00503)_%7C_Rivaroxaban(DB06228)_%7C_Rosuvastatin(DB01098)_%7C_Salmeterol(DB00938)_%7C_Saquinavir(DB01232)_%7C_Saxagliptin(DB06335)_%7C_Sildenafil(DB00203)_%7C_Simvastatin(DB00641)_%7C_Sirolimus(DB00877)_%7C_Sorafenib(DB00398)_%7C_Sulfasalazine(DB00795)_%7C_Sunitinib(DB01268)_%7C_Tacrolimus(DB00864)_%7C_Tamoxifen(DB00675)_%7C_Telithromycin(DB00976)_%7C_Temsirolimus(DB06287)_%7C_Teniposide(DB00444)_%7C_Testosterone(DB00624)_%7C_Thalidomide(DB01041)_%7C_Trazodone(DB00656)_%7C_Tretinoin(DB00755)_%7C_Triazolam(DB00897)_%7C_Troleandomycin(DB01361)_%7C_Udenafil(DB06267)_%7C_Valproic_%20_Acid(DB00313)_%7C_Vardenafil(DB00862)_%7C_Verapamil(DB00661)_%7C_Vincristine(DB00541)_%7C_Voriconazole(DB00582)_%7C_Zalcitabine(DB00943)_%7C_Zaleplon(DB00962)_%7C_Ziprasidone(DB00246)_%7C_Zolpidem(DB00425)|A4D289_%7C_B7Z5I7_%7C_Q53WY8_%7C_Q75MV0_%7C_Q9HB56|P20815|alkaloid_%20_catabolic_%20_process_%20_(GO:0009822)_%7C_drug_%20_catabolic_%20_process_%20_(GO:0042737)_%7C_oxidative_%20_demethylation_%20_(GO:0070989)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_steroid_%20_metabolic_%20_process_%20_(GO:0008202)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)|aromatase_%20_activity_%20_(GO:0070330)_%7C_heme_%20_binding_%20_(GO:0020037)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)_%7C_monooxygenase_%20_activity_%20_(GO:0004497)_%7C_oxidoreductase_%20_activity_%20_(GO:0016491)_%7C_oxygen_%20_binding_%20_(GO:0019825)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 99514391 indel.96936 A AC . PASS FUNCOTATION=[TRIM4|hg19|chr7|99514391|99514392|FRAME_SHIFT_INS||INS|-|-|C|g.chr7:99514391_99514392insC|ENST00000355947.2|-|2|535|c.404_405insG|c.(403-405)tttfs|p.F135fs|0.4375|GTGGATGTCAAAGTTACCTG|TRIM4_ENST00000349062.2_INTRON/TRIM4_ENST00000354241.5_INTRON|||||||||||||||||||||||||271|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471091|NM_033017.3|NP_148977.2|HGNC:16275|tripartite_%20_motif_%20_containing_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tripartite_%20_motif-containing_%20_4"|RNF87|"tripartite_%20_motif_%20_protein_%20_TRIM4"_%2C__%20_"tripartite_%20_motif_%20_protein_%20_4"|7q22.1|2016-10-05||2011-01-25|AF220023||89122|ENSG00000146833|11331580|NM_033017|59_%7C_58|Tripartite_%20_motif_%20_containing_%7C_Ring_%20_finger_%20_proteins|CCDS5678_%2C__%20_CCDS5679|OTTHUMG00000156648|89122||NM_033017|Q9C037|ENSG00000146833|uc003usd.4|TRIM4_HUMAN||A4D298_%7C_Q75MK1_%7C_Q96F06_%7C_Q9C036|Q9C037|protein_%20_trimerization_%20_(GO:0070206)|cytoplasm_%20_(GO:0005737)_%7C_plasma_%20_membrane_%20_(GO:0005886)|zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 99527243 exm2158709 T C . PASS FUNCOTATION=[GJC3|hg19|chr7|99527243|99527243|START_CODON_SNP||SNP|T|T|C|g.chr7:99527243T>C|ENST00000312891.2|-|1|1|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5336658354114713|CTGCCACACATCCTGTTTTGG|RP4-604G5.1_ENST00000456499.1_RNA|||||||||||||||||||||||||23|central_nervous_system(22)_%7C_lung(1)|||||||CH471091|NM_181538.2|NP_853516.1|HGNC:17495|gap_%20_junction_%20_protein_%20_gamma_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GJE1|"gap_%20_junction_%20_protein_%2C__%20_epsilon_%20_1_%2C__%20_29kDa"_%2C__%20_"gap_%20_junction_%20_protein_%2C__%20_gamma_%20_3_%2C__%20_30.2kDa"|CX30.2|"connexin_%20_30.2"|7q22.1|2015-11-09|2007-11-06|2015-11-09|AF503615||349149|ENSG00000176402||NM_181538|314|Gap_%20_junction_%20_proteins|CCDS34697|OTTHUMG00000156649|349149|611925|NM_181538|Q8NFK1|ENSG00000176402|uc011kjd.2|CXG3_HUMAN||A4D296_%7C_Q86XI9|Q8NFK1|cell_%20_communication_%20_(GO:0007154)_%7C_myelination_%20_(GO:0042552)_%7C_sensory_%20_perception_%20_of_%20_sound_%20_(GO:0007605)|connexon_%20_complex_%20_(GO:0005922)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_myelin_%20_sheath_%20_(GO:0043209)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 99757553 exm639976 A G . PASS FUNCOTATION=[GAL3ST4|hg19|chr7|99757553|99757553|NONSTOP||SNP|A|A|G|g.chr7:99757553A>G|ENST00000360039.4|-|4|1852|c.1459T>C|c.(1459-1461)Taa>Caa|p.*487Q|0.5486284289276808|TCTGATGTTTATGGGGAGAGT|GAL3ST4_ENST00000413800.1_NONSTOP_p.*487Q/GAL3ST4_ENST00000423751.1_THREE_PRIME_UTR/GAL3ST4_ENST00000411994.1_THREE_PRIME_UTR/GAL3ST4_ENST00000426974.2_NONSTOP_p.*425Q/C7orf43_ENST00000316937.3_FIVE_PRIME_FLANK/C7orf43_ENST00000394035.2_FIVE_PRIME_FLANK/C7orf43_ENST00000419841.1_FIVE_PRIME_FLANK/C7orf43_ENST00000457641.1_FIVE_PRIME_FLANK/C7orf43_ENST00000498638.1_FIVE_PRIME_FLANK/MIR4658_ENST00000584344.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||44|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)|||||||CH471091|NM_024637.4|NP_078913.3|HGNC:24145|galactose-3-O-sulfotransferase_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ12116||7q22.1|2014-11-18|||AF316113||79690|ENSG00000197093|11333265|NM_024637|763|Sulfotransferases_%2C__%20_membrane_%20_bound|CCDS5688|OTTHUMG00000154885|79690|608235|NM_024637|Q96RP7|ENSG00000197093|uc003utu.4|G3ST4_HUMAN||A4D2A8_%7C_B4DWL8_%7C_D6W5U5_%7C_Q8N3P7_%7C_Q8WZ17_%7C_Q96E33_%7C_Q9HA78|Q96RP7|cell-cell_%20_signaling_%20_(GO:0007267)_%7C_glycoprotein_%20_metabolic_%20_process_%20_(GO:0009100)_%7C_oligosaccharide_%20_metabolic_%20_process_%20_(GO:0009311)_%7C_proteoglycan_%20_biosynthetic_%20_process_%20_(GO:0030166)_%7C_sulfur_%20_compound_%20_metabolic_%20_process_%20_(GO:0006790)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)|3'-phosphoadenosine_%20_5'-phosphosulfate_%20_binding_%20_(GO:0050656)_%7C_galactose_%20_3-O-sulfotransferase_%20_activity_%20_(GO:0050694)_%7C_galactosylceramide_%20_sulfotransferase_%20_activity_%20_(GO:0001733)_%7C_proteoglycan_%20_sulfotransferase_%20_activity_%20_(GO:0050698)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 100486464 exm643029 T G . PASS FUNCOTATION=[UFSP1|hg19|chr7|100486464|100486464|NONSTOP||SNP|T|T|G|g.chr7:100486464T>G|ENST00000388761.2|-|1|876|c.429A>C|c.(427-429)tgA>tgC|p.*143C|0.5411471321695761|AACTTCGTCCTCAGTCCAAGG||||||||||||||||||||||||||22|central_nervous_system(22)|||||||CH236956|NM_001015072.3|NP_001015072.2|HGNC:33821|UFM1_%20_specific_%20_peptidase_%20_1_%20_(inactive)|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"UFM1-specific_%20_peptidase_%20_1_%20_(non-functional)"|UFSP||7q22.1|2016-07-04||2016-07-04|AF312032||402682|ENSG00000176125|17182609_%2C__%20_18321862|NM_001015072|||CCDS34710|OTTHUMG00000159662|402682|611481|NM_001015072|Q6NVU6|ENSG00000176125|uc003uxc.4|UFSP1_HUMAN||A4D2E4_%7C_A8K8V2_%7C_B6ZDG6_%7C_Q9BXP6|Q6NVU6||extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|thiolester_%20_hydrolase_%20_activity_%20_(GO:0016790)_%7C_UFM1_%20_hydrolase_%20_activity_%20_(GO:0071567)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 102524676 indel.97387 C CA . PASS FUNCOTATION=[FBXL13|hg19|chr7|102524676|102524677|FRAME_SHIFT_INS||INS|-|-|A|g.chr7:102524676_102524677insA|ENST00000313221.4|-|12|1519|c.1091_1092insT|c.(1090-1092)acgfs|p.D365fs|0.32|ACAGTTGTCCGTCAGAGTTG|FBXL13_ENST00000436908.1_FRAME_SHIFT_INS_p.D365fs/FBXL13_ENST00000393772.2_FRAME_SHIFT_INS_p.D365fs/FBXL13_ENST00000379308.3_FRAME_SHIFT_INS_p.D365fs/FBXL13_ENST00000379305.3_FRAME_SHIFT_INS_p.D365fs/FBXL13_ENST00000455112.2_FRAME_SHIFT_INS_p.D365fs/FBXL13_ENST00000379306.3_INTRON/FBXL13_ENST00000456695.1_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC031285|NM_145032.3|NP_659469.3|HGNC:21658|F-box_%20_and_%20_leucine_%20_rich_%20_repeat_%20_protein_%20_13|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC21636_%2C__%20_Fbl13_%2C__%20_DRC6||7q22.1|2016-06-06||2016-06-06|BC031285||222235|ENSG00000161040||NM_145032|981_%7C_558_%7C_1491|Dynein_%20_regulatory_%20_complex_%7C_F-box_%20_and_%20_leucine_%20_rich_%20_repeat_%20_proteins_%7C_Cilia_%20_and_%20_flagella_%20_associated|CCDS5726_%2C__%20_CCDS47678_%2C__%20_CCDS75649|OTTHUMG00000157224|222235|609080|NM_001111038|Q8NEE6|ENSG00000161040|uc003vaq.3|FXL13_HUMAN||C9J565_%7C_C9J566_%7C_Q6UVW7_%7C_Q6UVW8_%7C_Q75MN5_%7C_Q86UJ5_%7C_Q8N7Y4_%7C_Q8TCL2_%7C_Q8WUF9_%7C_Q8WUG0|Q8NEE6|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 112424910 variant.97734 G A . PASS FUNCOTATION=[TMEM168|hg19|chr7|112424910|112424910|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr7:112424910G>A|ENST00000312814.6|-|2|||||0.3167082294264339|TTTCCCTCACGTTACAAAAAT|TMEM168_ENST00000454074.1_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471070|NM_022484.5|NP_071929.3|HGNC:25826|transmembrane_%20_protein_%20_168|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||DKFZp564C012_%2C_FLJ13576||7q31.1|2016-10-05|||||64418|ENSG00000146802|12477932|NM_022484|||CCDS5757|OTTHUMG00000155188|64418||NM_001287497|Q9H0V1|ENSG00000146802|uc003vgn.5|TM168_HUMAN||A4D0T9_%7C_B4DDS0_%7C_Q8NEK4_%7C_Q9H8J2|Q9H0V1||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_transport_%20_vesicle_%20_(GO:0030133)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 122338970 exm653867 C T . PASS FUNCOTATION=[RNF133|hg19|chr7|122338970|122338970|START_CODON_SNP||SNP|C|C|T|g.chr7:122338970C>T|ENST00000340112.2|-|1|241|c.3G>A|c.(1-3)atG>atA|p.M1I|0.3865336658354115|TGAGTAGATGCATCTCTCTCT|CADPS2_ENST00000412584.2_INTRON/CADPS2_ENST00000449022.2_INTRON/CADPS2_ENST00000334010.7_INTRON/CADPS2_ENST00000313070.7_INTRON|Colon(198_%3B_1778_%20_2057_%20_7449_%20_19869_%20_45985)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471070|NM_139175.1|NP_631914.1|HGNC:21154|ring_%20_finger_%20_protein_%20_133|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||7q31.32|2016-10-05|||AF447589||168433|ENSG00000188050||NM_139175|58|Ring_%20_finger_%20_proteins|CCDS5784|OTTHUMG00000157092|168433||NM_139175|Q8WVZ7|ENSG00000188050|uc003vkj.2|RN133_HUMAN||A4D0W2_%7C_Q8N7G7|Q8WVZ7|protein_%20_autoubiquitination_%20_(GO:0051865)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|ligase_%20_activity_%20_(GO:0016874)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 123197849 exm654183 T G . PASS FUNCOTATION=[NDUFA5|hg19|chr7|123197849|123197849|START_CODON_SNP||SNP|T|T|G|g.chr7:123197849T>G|ENST00000355749.2|-|1|461|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.5635910224438903|ACACCCGCCATGACAGCGCCA|NDUFA5_ENST00000471770.1_FIVE_PRIME_FLANK/NDUFA5_ENST00000467117.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U64028|NM_005000.2|NP_004991.1|HGNC:7688|NADH:ubiquinone_%20_oxidoreductase_%20_subunit_%20_A5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_1_%20_alpha_%20_subcomplex_%2C__%20_5_%20_(13kD_%2C__%20_B13)"_%2C__%20_"NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_1_%20_alpha_%20_subcomplex_%2C__%20_5_%2C__%20_13kDa"_%2C__%20_"NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_1_%20_alpha_%20_subcomplex_%2C__%20_5"|B13_%2C__%20_NUFM_%2C__%20_CI-13KD-B_%2C__%20_UQOR13_%2C__%20_CI-13kB|"complex_%20_I_%20_13kDa_%20_subunit_%20_B"_%2C__%20_"ubiquinone_%20_reductase"_%2C__%20_"type_%20_I_%20_dehydrogenase"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_13_%20_kDa-B_%20_subunit"|7q31.32|2016-10-05||2015-11-20|||4698|ENSG00000128609|9763677_%2C__%20_9021153|NM_005000|1150|NADH:ubiquinone_%20_oxidoreductase_%20_supernumerary_%20_subunits|CCDS5788_%2C__%20_CCDS64760_%2C__%20_CCDS75655_%2C__%20_CCDS75656|OTTHUMG00000157348|4698|601677|NM_001282419|Q16718|ENSG00000128609|uc033afk.2|NDUA5_HUMAN||B2RD98_%7C_Q5H9R2_%7C_Q6IRX7|Q16718|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 138711291 exm661303 T A . PASS FUNCOTATION=[ZC3HAV1L|hg19|chr7|138711291|138711291|NONSTOP||SNP|T|T|A|g.chr7:138711291T>A|ENST00000275766.1|-|5|914|c.902A>T|c.(901-903)tAa>tTa|p.*301L|0.456359102244389|CCATCTTCTTTACTTCTCGCA||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC020784|NM_080660.3|NP_542391.2|HGNC:22423|zinc_%20_finger_%20_CCCH-type_%20_containing_%2C__%20_antiviral_%20_1_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C7orf39|"chromosome_%20_7_%20_open_%20_reading_%20_frame_%20_39"|MGC14289||7q34|2017-03-10||2016-02-12|BC008842||92092|ENSG00000146858||NM_080660|||CCDS5850|OTTHUMG00000157229|92092||NM_080660|Q96H79|ENSG00000146858|uc003vum.1|ZCCHL_HUMAN||Q8WUD9|Q96H79|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 143748430 exm666951 A G . PASS FUNCOTATION=[OR2A5|hg19|chr7|143748430|143748430|NONSTOP||SNP|A|A|G|g.chr7:143748430A>G|ENST00000408906.2|+|1|970|c.936A>G|c.(934-936)tgA>tgG|p.*312W|0.48877805486284287|GATCAAAGTGAGGGATGCCAG||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||U86281|NM_012365.1|NP_036497.1|HGNC:8232|olfactory_%20_receptor_%20_family_%20_2_%20_subfamily_%20_A_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|OR2A8_%2C__%20_OR2A26|"olfactory_%20_receptor_%2C__%20_family_%20_2_%2C__%20_subfamily_%20_A_%2C__%20_member_%20_5"|OR7-138_%2C__%20_OR7-141||7q35|2015-12-09||2015-12-09|U86278||393046|ENSG00000221836|9500546||149|Olfactory_%20_receptors_%2C__%20_family_%20_2|CCDS43668|OTTHUMG00000158006|393046||NM_012365|Q96R48|ENSG00000221836|uc011ktw.3|OR2A5_HUMAN||B9EGX2_%7C_O43885_%7C_O43888|Q96R48||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 143771791 indel.98888 T TTAAC . PASS FUNCOTATION=[OR2A25|hg19|chr7|143771791|143771792|FRAME_SHIFT_INS||INS|-|-|TAAC|g.chr7:143771791_143771792insTAAC|ENST00000408898.2|+|1|517|c.479_480insTAAC|c.(478-480)gtgfs|p.L161fs|0.4525|TCCATCTAGTGTTACTGCTA||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH236959|NM_001004488.1|NP_001004488.1|HGNC:19562|olfactory_%20_receptor_%20_family_%20_2_%20_subfamily_%20_A_%20_member_%20_25|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|OR2A25P_%2C__%20_OR2A27|"olfactory_%20_receptor_%2C__%20_family_%20_2_%2C__%20_subfamily_%20_A_%2C__%20_member_%20_25"|||7q35|2015-12-09|2004-03-10|2015-12-09|||392138|ENSG00000221933|||149|Olfactory_%20_receptors_%2C__%20_family_%20_2|CCDS43669|OTTHUMG00000158013|392138||NM_001004488|A4D2G3|ENSG00000221933|uc011ktx.3|O2A25_HUMAN||B2RNC9|A4D2G3||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 150434689 exm671051 C T . PASS FUNCOTATION=[GIMAP5|hg19|chr7|150434689|150434689|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr7:150434689C>T|ENST00000358647.3|+|1|||||0.5361596009975063|CGCACACAGACGCAGAGCAGG|GIMAP5_ENST00000479556.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR457280|NM_018384.4|NP_060854.2|HGNC:18005|GTPase_%2C__%20_IMAP_%20_family_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|IAN4L1|"immune_%20_associated_%20_nucleotide_%20_4_%20_like_%20_1_%20_(mouse)"|HIMAP3_%2C__%20_IAN5|"immune-associated_%20_nucleotide-binding_%20_protein_%20_5"|7q36.1|2015-09-10|2004-10-30|2004-10-29|AK002158||55340|ENSG00000196329||NM_018384|580|GTPases_%2C__%20_IMAP|CCDS5907|OTTHUMG00000157542|55340|608086|NM_018384|Q96F15|ENSG00000196329|uc064jdz.2|GIMA5_HUMAN||D3DWZ5_%7C_Q6IA75_%7C_Q96NE4_%7C_Q9NUK9|Q96F15|myeloid_%20_dendritic_%20_cell_%20_differentiation_%20_(GO:0043011)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_interferon-gamma_%20_production_%20_(GO:0032689)_%7C_negative_%20_regulation_%20_of_%20_lipid_%20_catabolic_%20_process_%20_(GO:0050995)_%7C_negative_%20_regulation_%20_of_%20_nitric_%20_oxide_%20_biosynthetic_%20_process_%20_(GO:0045019)_%7C_negative_%20_regulation_%20_of_%20_T_%20_cell_%20_activation_%20_(GO:0050868)_%7C_positive_%20_regulation_%20_of_%20_calcium_%20_ion_%20_transport_%20_into_%20_cytosol_%20_(GO:0010524)_%7C_positive_%20_regulation_%20_of_%20_CD4-positive_%2C__%20_CD25-positive_%2C__%20_alpha-beta_%20_regulatory_%20_T_%20_cell_%20_differentiation_%20_(GO:0032831)_%7C_positive_%20_regulation_%20_of_%20_gamma-delta_%20_T_%20_cell_%20_differentiation_%20_(GO:0045588)_%7C_positive_%20_regulation_%20_of_%20_humoral_%20_immune_%20_response_%20_mediated_%20_by_%20_circulating_%20_immunoglobulin_%20_(GO:0002925)_%7C_positive_%20_regulation_%20_of_%20_membrane_%20_potential_%20_(GO:0045838)_%7C_positive_%20_regulation_%20_of_%20_natural_%20_killer_%20_cell_%20_cytokine_%20_production_%20_(GO:0002729)_%7C_positive_%20_regulation_%20_of_%20_natural_%20_killer_%20_cell_%20_mediated_%20_cytotoxicity_%20_(GO:0045954)_%7C_regulation_%20_of_%20_mitochondrial_%20_membrane_%20_permeability_%20_(GO:0046902)_%7C_T_%20_cell_%20_differentiation_%20_(GO:0030217)_%7C_T_%20_cell_%20_homeostasis_%20_(GO:0043029)_%7C_temperature_%20_homeostasis_%20_(GO:0001659)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosome_%20_(GO:0005764)_%7C_mitochondrial_%20_outer_%20_membrane_%20_(GO:0005741)|GTP_%20_binding_%20_(GO:0005525)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 154863078 exm2144851 G A . PASS FUNCOTATION=[HTR5A-AS1|hg19|chr7|154863078|154863078|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr7:154863078G>A|ENST00000395731.2|-|1|||||0.6384039900249376|CCGCAAGTGCGTCTCCAACGT|HTR5A_ENST00000287907.2_MISSENSE_p.V157I/HTR5A-AS1_ENST00000543018.1_DE_NOVO_START_IN_FRAME/HTR5A-AS1_ENST00000493904.1_INTRON|||||||||||||||||||||||||||||||||AC093726|||HGNC:48956|HTR5A_%20_antisense_%20_RNA_%20_1|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|HTR5AOS|"HTR5A_%20_opposite_%20_strand"|||7q36.2|2014-10-03|2014-10-03|2014-10-03|BC031272_%2C__%20_BC045795||100128264|ENSG00000220575||NR_038945||||OTTHUMG00000151326|100128264||NR_038945||ENSG00000220575||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 155755336 rs7807731 C T . PASS FUNCOTATION=[AC021218.2|hg19|chr7|155755336|155755336|DE_NOVO_START_IN_FRAME||SNP|C|C|T|g.chr7:155755336C>T|ENST00000377722.2|+|1|||||0.5037406483790524|TTTAGGAGCACGGGTACTACT||||||||||||||||||||||||||||||||||AC021218||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr8 6614907 exm679475 T C . PASS FUNCOTATION=[AGPAT5|hg19|chr8|6614907|6614907|NONSTOP||SNP|T|T|C|g.chr8:6614907T>C|ENST00000285518.6|+|8|1405|c.1093T>C|c.(1093-1095)Tag>Cag|p.*365Q|0.3940149625935162|TATTAAAGCATAGACAAGTAG||||||||||||||||||||||||AGPAT5{ENST00000285518}:r.1_898_MCPH1{ENST00000344683}:r.2529_3158(2)||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC080537|NM_018361.3|NP_060831.2|HGNC:20886|1-acylglycerol-3-phosphate_%20_O-acyltransferase_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"1-acylglycerol-3-phosphate_%20_O-acyltransferase_%20_5_%20_(lysophosphatidic_%20_acid_%20_acyltransferase_%2C__%20_epsilon)"|FLJ11210_%2C__%20_LPAAT-e_%2C__%20_LPAAT-epsilon|"lysophosphatidic_%20_acid_%20_acyltransferase_%2C__%20_epsilon"|8p23.1|2013-02-05||2013-02-05|AF375789|2.3.1.51|55326|ENSG00000155189||NM_018361|46|1-acylglycerol-3-phosphate_%20_O-acyltransferases|CCDS34796|OTTHUMG00000163656|55326|614796|NM_018361|Q9NUQ2|ENSG00000155189|uc003wqo.4|PLCE_HUMAN||Q8IZ47_%7C_Q9BQG4|Q9NUQ2|CDP-diacylglycerol_%20_biosynthetic_%20_process_%20_(GO:0016024)_%7C_cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_glycerophospholipid_%20_biosynthetic_%20_process_%20_(GO:0046474)_%7C_hematopoietic_%20_progenitor_%20_cell_%20_differentiation_%20_(GO:0002244)_%7C_phosphatidic_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0006654)_%7C_phospholipid_%20_biosynthetic_%20_process_%20_(GO:0008654)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_triglyceride_%20_biosynthetic_%20_process_%20_(GO:0019432)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_outer_%20_membrane_%20_(GO:0005741)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|1-acylglycerol-3-phosphate_%20_O-acyltransferase_%20_activity_%20_(GO:0003841)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr8 10464405 exm2160034 C G . PASS FUNCOTATION=[RP1L1|hg19|chr8|10464405|10464405|NONSTOP||SNP|C|C|G|g.chr8:10464405C>G|ENST00000382483.3|-|4|7427|c.7203G>C|c.(7201-7203)taG>taC|p.*2401Y|0.516209476309227|TTGATCTTGTCTAGAAATCTA||||||||||||||||||||||||||246|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(104)_%7C_large_intestine(36)_%7C_oesophagus(6)_%7C_pancreas(22)|||||||AC105001|NM_178857.5|NP_849188.4|HGNC:15946|RP1_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"retinitis_%20_pigmentosa_%20_1-like_%20_1"_%2C__%20_"retinitis_%20_pigmentosa_%20_1_%20_like_%20_1"|DCDC4B|"doublecortin_%20_domain_%20_containing_%20_4B"|8p23.1|2016-12-12||2016-12-12|AY168346||94137|ENSG00000183638|12634863||1369|Doublecortin_%20_superfamily|CCDS43708|OTTHUMG00000163806|94137|608581|NM_178857|Q8IWN7|ENSG00000183638|uc003wtc.4|RP1L1_HUMAN||Q86SQ1_%7C_Q8IWN8_%7C_Q8IWN9_%7C_Q8IWP0_%7C_Q8IWP1_%7C_Q8IWP2|Q8IWN7|cell_%20_projection_%20_organization_%20_(GO:0030030)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_photoreceptor_%20_cell_%20_development_%20_(GO:0042461)_%7C_photoreceptor_%20_cell_%20_maintenance_%20_(GO:0045494)_%7C_visual_%20_perception_%20_(GO:0007601)|axoneme_%20_(GO:0005930)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_microtubule_%20_(GO:0005874)_%7C_photoreceptor_%20_connecting_%20_cilium_%20_(GO:0032391)_%7C_photoreceptor_%20_outer_%20_segment_%20_(GO:0001750)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr8 18076998 variant.99838 G T . PASS FUNCOTATION=[NAT1|hg19|chr8|18076998|18076998|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr8:18076998G>T|ENST00000517492.1|+|2|||||0.3690773067331671|TACTAAGAAAGGTATTAAGGG|NAT1_ENST00000518029.1_DE_NOVO_START_OUT_FRAME/NAT1_ENST00000535084.1_DE_NOVO_START_OUT_FRAME/NAT1_ENST00000541942.1_DE_NOVO_START_OUT_FRAME/NAT1_ENST00000307719.4_DE_NOVO_START_OUT_FRAME/NAT1_ENST00000539092.1_DE_NOVO_START_OUT_FRAME/NAT1_ENST00000545197.1_SPLICE_SITE_p.K60N/NAT1_ENST00000520546.1_FIVE_PRIME_FLANK/NAT1_ENST00000517441.1_SPLICE_SITE|||||||||||||||||||||||||104|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_thymus(14)|||||||X17059|||HGNC:7645|N-acetyltransferase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AAC1|"N-acetyltransferase_%20_1_%20_(arylamine_%20_N-acetyltransferase)"||"arylamine_%20_N-acetyltransferase_%20_1"|8p22|2016-06-21||2016-06-21|BC047666|2.3.1.5|9|ENSG00000171428|7773298|NM_000662|1133|Arylamine_%20_N-acetyltransferases|CCDS6007_%2C__%20_CCDS55205|OTTHUMG00000097001|9|108345|NM_000662|P18440|ENSG00000171428|uc003wyq.4|S38A6_HUMAN||C9JWA6_%7C_Q86SY5|Q8IZM9|amino_%20_acid_%20_transport_%20_(GO:0006865)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr8 18258384 exm685706 T G . PASS FUNCOTATION=[NAT2|hg19|chr8|18258384|18258384|NONSTOP||SNP|T|T|G|g.chr8:18258384T>G|ENST00000286479.3|+|2|978|c.871T>G|c.(871-873)Tag>Gag|p.*291E|0.3491271820448878|CCTTACTATTTAGAATAAGGA|NAT2_ENST00000520116.1_NONSTOP_p.*161E|||||||||||||||||||||||||105|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_thymus(14)||||Naso-/Oropharyngeal/Laryngeal_%20_Cancer_%2C__%20_Familial_%20_Clustering_%20_of|incl.:_%20_Familial_%20_Head_%20_and_%20_Neck_%20_Cancer|Familial_%20_Cancer_%20_Database|X14672|NM_000015.2|NP_000006.2|HGNC:7646|N-acetyltransferase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AAC2|"N-acetyltransferase_%20_2_%20_(arylamine_%20_N-acetyltransferase)"||"arylamine_%20_N-acetyltransferase_%20_2"|8p22|2016-06-21||2016-06-21|D90042|2.3.1.5|10|ENSG00000156006|7773298|NM_000015|1133|Arylamine_%20_N-acetyltransferases|CCDS6008|OTTHUMG00000130826|10|612182|NM_000015|P11245|ENSG00000156006|uc003wyw.2|ARY2_HUMAN|Acetaminophen(DB00316)_%7C_Clonazepam(DB01068)_%7C_Dapsone(DB00250)_%7C_Ezogabine(DB04953)_%7C_Isoniazid(DB00951)_%7C_Sulfamethoxazole(DB01015)|O43637_%7C_O60654_%7C_O60655_%7C_Q13146_%7C_Q16697_%7C_Q2MLE4_%7C_Q2MLF5_%7C_Q2MLG8_%7C_Q2MLJ6_%7C_Q2MLK4_%7C_Q2MLK6_%7C_Q2MLN7_%7C_Q6LET4_%7C_Q86XS0_%7C_Q86XS1_%7C_Q96KY8_%7C_Q96T64_%7C_Q96T65_%7C_Q9H220|P11245|small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|cytosol_%20_(GO:0005829)|arylamine_%20_N-acetyltransferase_%20_activity_%20_(GO:0004060)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr8 22995385 exm689245 A G . PASS FUNCOTATION=[TNFRSF10D|hg19|chr8|22995385|22995385|NONSTOP||SNP|A|A|G|g.chr8:22995385A>G|ENST00000312584.3|-|9|1254|c.1159T>C|c.(1159-1161)Tga>Cga|p.*387R|0.47381546134663344|AGATTCTTTCACAGGCAGGAC||||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC052270|NM_003840.4|NP_003831.2|HGNC:11907|TNF_%20_receptor_%20_superfamily_%20_member_%20_10d|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_10d_%2C__%20_decoy_%20_with_%20_truncated_%20_death_%20_domain"|DcR2_%2C__%20_TRUNDD_%2C__%20_TRAILR4_%2C__%20_CD264||8p21.3|2016-10-05||2016-06-28|AF029761||8793|ENSG00000173530|9382840_%2C__%20_9537512||471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS6038|OTTHUMG00000097845|8793|603614|NM_003840|Q9UBN6|ENSG00000173530|uc003xcz.4|TR10D_HUMAN||B2R8W0_%7C_Q9Y6Q4|Q9UBN6|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|transmembrane_%20_signaling_%20_receptor_%20_activity_%20_(GO:0004888)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr8 23049208 exm689342 C A . PASS FUNCOTATION=[TNFRSF10A|hg19|chr8|23049208|23049208|NONSTOP||SNP|C|C|A|g.chr8:23049208C>A|ENST00000221132.3|-|10|1471|c.1406G>T|c.(1405-1407)tGa>tTa|p.*469L|0.4688279301745636|AAGAGTCTTTCACTCCAAGGA||||||||||||||||||||||||||615|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||U90875|NM_003844.3|NP_003835.3|HGNC:11904|TNF_%20_receptor_%20_superfamily_%20_member_%20_10a|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_10a"|DR4_%2C__%20_Apo2_%2C__%20_TRAILR-1_%2C__%20_CD261||8p21.3|2016-10-05||2016-06-28|U90875||8797|ENSG00000104689|9311998_%2C__%20_9082980|NM_003844|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS6039|OTTHUMG00000097843|8797|603611|NM_003844|O00220|ENSG00000104689|uc003xda.4|TR10A_HUMAN||A8K5I4_%7C_Q53Y72_%7C_Q96E62|O00220|activation_%20_of_%20_NF-kappaB-inducing_%20_kinase_%20_activity_%20_(GO:0007250)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_mechanical_%20_stimulus_%20_(GO:0071260)_%7C_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097191)_%7C_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_via_%20_death_%20_domain_%20_receptors_%20_(GO:0008625)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_TRAIL-activated_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:0036462)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|death_%20_receptor_%20_activity_%20_(GO:0005035)_%7C_protease_%20_binding_%20_(GO:0002020)_%7C_receptor_%20_activity_%20_(GO:0004872)_%7C_TRAIL_%20_binding_%20_(GO:0045569)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr8 24211915 exm690079 T G . PASS FUNCOTATION=[ADAM28|hg19|chr8|24211915|24211915|NONSTOP||SNP|T|T|G|g.chr8:24211915T>G|ENST00000265769.4|+|23|2436|c.2326T>G|c.(2326-2328)Tga>Gga|p.*776G|0.32917705735660846|TCCAAAAGCATGAAGCAACAG|ADAM28_ENST00000397649.3_THREE_PRIME_UTR/RP11-624C23.1_ENST00000518988.1_RNA/RP11-624C23.1_ENST00000519689.1_RNA/RP11-624C23.1_ENST00000523700.1_RNA/RP11-624C23.1_ENST00000523578.1_RNA|NSCLC(193_%3B_488_%20_2149_%20_22258_%20_34798_%20_40734)||||||||||||||||||||||||210|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_skin(27)|||||||CH471080|NM_014265.4|NP_055080.2|HGNC:206|ADAM_%20_metallopeptidase_%20_domain_%20_28|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"a_%20_disintegrin_%20_and_%20_metalloproteinase_%20_domain_%20_28"|eMDCII_%2C__%20_MDC-Lm_%2C__%20_MDC-Ls_%2C__%20_ADAM23||8p21.2|2014-11-19||2005-08-18|AJ242015||10863|ENSG00000042980||NM_021778|47|ADAM_%20_metallopeptidase_%20_domain_%20_containing|CCDS34865_%2C__%20_CCDS47830|OTTHUMG00000163780|10863|606188|NM_001304351|Q9UKQ2|ENSG00000042980|uc003xdy.4|ADA28_HUMAN||B2RMV5_%7C_Q9Y339_%7C_Q9Y3S0|Q9UKQ2|spermatogenesis_%20_(GO:0007283)|extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_metallopeptidase_%20_activity_%20_(GO:0008237)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr8 37635620 indel.100492 TG T . PASS FUNCOTATION=[PROSC|hg19|chr8|37635621|37635621|NONSTOP||DEL|G|G|-|g.chr8:37635621delG|ENST00000328195.3|+|8|893|c.827delG|c.(826-828)tgafs|p.A277fs|0.47880299251870323|CAGGAGCACTGAGCCAGGGAA||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533532|NM_007198.3|NP_009129.1||||||||||||||||||||||||||||||PROSC_HUMAN|L-Proline(DB00172)|Q6FI94|O94903|alpha-amino_%20_acid_%20_metabolic_%20_process_%20_(GO:1901605)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_intracellular_%20_(GO:0005622)_%7C_mitochondrion_%20_(GO:0005739)|pyridoxal_%20_phosphate_%20_binding_%20_(GO:0030170)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr8 39840213 indel.100718 A AT . PASS FUNCOTATION=[IDO2|hg19|chr8|39840213|39840214|FRAME_SHIFT_INS||INS|-|-|T|g.chr8:39840213_39840214insT|ENST00000389060.4|+|4|358|c.358_359insT|c.(358-360)aggfs|p.R120fs|0.445|GAAGTCTCCAGGAACTTGGG|IDO2_ENST00000502986.2_FRAME_SHIFT_INS_p.R133fs/RP11-44K6.3_ENST00000517623.1_RNA/IDO2_ENST00000343295.4_INTRON|||||||||||||||||||||||||127|breast(1)_%7C_central_nervous_system(22)_%7C_haematopoietic_and_lymphoid_tissue(104)|||||||EF052681|||HGNC:27269|indoleamine_%20_2_%2C_3-dioxygenase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|INDOL1|"indoleamine-pyrrole_%20_2_%2C_3_%20_dioxygenase-like_%20_1"|||8p11.21|2014-11-19|2009-01-07|2009-01-07|AK128691||169355|ENSG00000188676||NM_194294|||CCDS6114|OTTHUMG00000141271|169355|612129|NM_194294|Q6ZQW0|ENSG00000188676|uc064mgi.1|I23O2_HUMAN||A4UD41|Q6ZQW0|cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_tryptophan_%20_catabolic_%20_process_%20_(GO:0006569)_%7C_tryptophan_%20_catabolic_%20_process_%20_to_%20_kynurenine_%20_(GO:0019441)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)|heme_%20_binding_%20_(GO:0020037)_%7C_indoleamine_%20_2_%2C_3-dioxygenase_%20_activity_%20_(GO:0033754)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_tryptophan_%20_2_%2C_3-dioxygenase_%20_activity_%20_(GO:0004833)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr8 63978501 indel.101068 T TAA . PASS FUNCOTATION=[TTPA|hg19|chr8|63978501|63978502|FRAME_SHIFT_INS||INS|-|-|AA|g.chr8:63978501_63978502insAA|ENST00000260116.4|-|3|546|c.513_514insTT|c.(514-516)actfs|p.T172fs|0.3325|CGGATGGAGTGATTTGAAAA|TTPA_ENST00000521138.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U21938|NM_000370.3|NP_000361.1|HGNC:12404|alpha_%20_tocopherol_%20_transfer_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AVED|"ataxia_%20_(Friedreich-like)_%20_with_%20_vitamin_%20_E_%20_deficiency"_%2C__%20_"tocopherol_%20_(alpha)_%20_transfer_%20_protein"|||8q12.3|2016-11-01||2016-05-23|BC058000||7274|ENSG00000137561|7719340_%2C__%20_7887897|NM_000370|||CCDS6178|OTTHUMG00000164367|7274|600415|NM_000370|P49638|ENSG00000137561|uc003xux.3|TTPA_HUMAN|Vitamin_%20_E(DB00163)|Q71V64|P49638|embryonic_%20_placenta_%20_development_%20_(GO:0001892)_%7C_intermembrane_%20_transport_%20_(GO:0046909)_%7C_intracellular_%20_pH_%20_reduction_%20_(GO:0051452)_%7C_lipid_%20_metabolic_%20_process_%20_(GO:0006629)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_death_%20_(GO:0060548)_%7C_negative_%20_regulation_%20_of_%20_establishment_%20_of_%20_blood-brain_%20_barrier_%20_(GO:0090212)_%7C_response_%20_to_%20_nutrient_%20_(GO:0007584)_%7C_response_%20_to_%20_pH_%20_(GO:0009268)_%7C_response_%20_to_%20_toxic_%20_substance_%20_(GO:0009636)_%7C_transport_%20_(GO:0006810)_%7C_vitamin_%20_E_%20_metabolic_%20_process_%20_(GO:0042360)_%7C_vitamin_%20_transport_%20_(GO:0051180)|cytosol_%20_(GO:0005829)_%7C_late_%20_endosome_%20_(GO:0005770)|phosphatidylinositol-3_%2C_4-bisphosphate_%20_binding_%20_(GO:0043325)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_binding_%20_(GO:0005546)_%7C_transporter_%20_activity_%20_(GO:0005215)_%7C_vitamin_%20_E_%20_binding_%20_(GO:0008431)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr8 67900620 exm704244 A G . PASS FUNCOTATION=[PPP1R42|hg19|chr8|67900620|67900620|NONSTOP||SNP|A|A|G|g.chr8:67900620A>G|ENST00000324682.5|-|6|830|c.685T>C|c.(685-687)Taa>Caa|p.*229Q|0.30423940149625933|AAATTATATTAATATAAATAT|PPP1R42_ENST00000522909.1_INTRON|||||||||||||||||||||||||||||||||BC055413|NM_001013626.2|NP_001013648.1|HGNC:33732|protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunit_%20_42|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|LRRC67|"leucine_%20_rich_%20_repeat_%20_containing_%20_67"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_42"|dtr_%2C__%20_TLLR|"testis_%20_leucine-rich_%20_repeat"|8q13.1|2016-10-05|2011-10-11|2015-11-18|BC055413||286187|ENSG00000178125||NM_001013626|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS34902|OTTHUMG00000164745|286187|617720|NM_001013626|Q7Z4L9|ENSG00000178125|uc003xxc.4|PPR42_HUMAN|||Q7Z4L9|regulation_%20_of_%20_phosphatase_%20_activity_%20_(GO:0010921)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_manchette_%20_(GO:0002177)_%7C_microtubule_%20_cytoskeleton_%20_(GO:0015630)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)|actin_%20_binding_%20_(GO:0003779)_%7C_dynein_%20_binding_%20_(GO:0045502)_%7C_tubulin_%20_binding_%20_(GO:0015631)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr8 82713734 exm2176858 A G . PASS FUNCOTATION=[SNX16|hg19|chr8|82713734|82713734|NONSTOP||SNP|A|A|G|g.chr8:82713734A>G|ENST00000345957.4|-|8|1312|c.1033T>C|c.(1033-1035)Taa>Caa|p.*345Q|0.29177057356608477|GTGATACATTAGTCTTCTTCA|SNX16_ENST00000353788.4_NONSTOP_p.*316Q/SNX16_ENST00000396330.2_NONSTOP_p.*345Q/RP13-923O23.6_ENST00000524337.1_RNA|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471068|NM_152836.2|NP_690049.1|HGNC:14980|sorting_%20_nexin_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||8q21.13|2015-08-26|||AF305779||64089|ENSG00000104497|12461558_%2C__%20_12813048|NM_022133|754|Sorting_%20_nexins|CCDS6234_%2C__%20_CCDS6235|OTTHUMG00000164727|64089|614903|NM_022133|P57768|ENSG00000104497|uc011lft.3|SNX16_HUMAN||A8K4D8_%7C_Q658L0_%7C_Q8N4U3|P57768|early_%20_endosome_%20_to_%20_late_%20_endosome_%20_transport_%20_(GO:0045022)_%7C_endosome_%20_to_%20_lysosome_%20_transport_%20_(GO:0008333)_%7C_protein_%20_targeting_%20_to_%20_lysosome_%20_(GO:0006622)|early_%20_endosome_%20_(GO:0005769)_%7C_extrinsic_%20_component_%20_of_%20_endosome_%20_membrane_%20_(GO:0031313)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_lysosome_%20_(GO:0005764)|identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_phosphatidylinositol_%20_binding_%20_(GO:0035091)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr8 86057746 exm707986 A G . PASS FUNCOTATION=[LRRCC1|hg19|chr8|86057746|86057746|NONSTOP||SNP|A|A|G|g.chr8:86057746A>G|ENST00000360375.3|+|19|3248|c.3099A>G|c.(3097-3099)tgA>tgG|p.*1033W|0.2518703241895262|AAGATATGTGATGGTTCTGAG|LRRCC1_ENST00000414626.2_NONSTOP_p.*1013W|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471068|NM_033402.4|NP_208325.3|HGNC:29373|leucine_%20_rich_%20_repeat_%20_and_%20_coiled-coil_%20_centrosomal_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"leucine_%20_rich_%20_repeat_%20_and_%20_coiled-coil_%20_domain_%20_containing_%20_1"|KIAA1764_%2C__%20_CLERC_%2C__%20_VFL1|"centrosomal_%20_leucine-rich_%20_repeat_%20_and_%20_coiled-coil_%20_containing_%20_protein"_%2C__%20_"variable_%20_number_%20_of_%20_flagella_%20_1_%20_homolog_%20_(Chlamydomonas)"|8q21.2|2015-08-25||2012-04-10|BC030701||85444|ENSG00000133739|11214970_%2C__%20_18728398|NM_033402|||CCDS43750|OTTHUMG00000164784|85444||NM_033402|Q9C099|ENSG00000133739|uc003ycw.4|LRCC1_HUMAN||B4DYX6_%7C_B5RI11_%7C_Q8N768_%7C_Q96DK7_%7C_Q96N01|Q9C099|mitotic_%20_nuclear_%20_division_%20_(GO:0007067)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr8 104061183 indel.101975 G GTT . PASS FUNCOTATION=[ATP6V1C1|hg19|chr8|104061183|104061184|SPLICE_SITE|FRAME_SHIFT_INS|INS|-|-|TT|g.chr8:104061183_104061184insTT|ENST00000395862.3|+|4|445|c.286_287insTT|c.(286-288)gtgfs|p.D97fs|0.3175|GCTAATGGAGGTAAGCTAAT|ATP6V1C1_ENST00000518738.1_SPLICE_SITE_p.D97fs/ATP6V1C1_ENST00000518857.1_SPLICE_SITE_p.D22fs/ATP6V1C1_ENST00000521514.1_SPLICE_SITE_p.D22fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X69151|NM_001695.4|NP_001686.1|HGNC:856|ATPase_%20_H+_%20_transporting_%20_V1_%20_subunit_%20_C1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ATP6D_%2C__%20_ATP6C|"ATPase_%2C__%20_H+_%20_transporting_%2C__%20_lysosomal_%20_(vacuolar_%20_proton_%20_pump)_%20_42kD"_%2C__%20_"ATPase_%2C__%20_H+_%20_transporting_%2C__%20_lysosomal_%20_42kDa_%2C__%20_V1_%20_subunit_%20_C_%2C__%20_isoform_%20_1"_%2C__%20_"ATPase_%2C__%20_H+_%20_transporting_%2C__%20_lysosomal_%20_42kDa_%2C__%20_V1_%20_subunit_%20_C1"|VATC_%2C__%20_Vma5||8q22.3|2016-10-05|2002-05-10|2016-02-11|X69151|3.6.3.14|528|ENSG00000155097|8250920_%2C__%20_14580332|NM_001695|415|V-type_%20_ATPases|CCDS6296|OTTHUMG00000164761|528|603097|NM_001695|P21283|ENSG00000155097|uc003yla.4|VATC1_HUMAN|||P21283|ATP_%20_hydrolysis_%20_coupled_%20_proton_%20_transport_%20_(GO:0015991)_%7C_cellular_%20_iron_%20_ion_%20_homeostasis_%20_(GO:0006879)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_interaction_%20_with_%20_host_%20_(GO:0051701)_%7C_phagosome_%20_maturation_%20_(GO:0090382)_%7C_proton_%20_transport_%20_(GO:0015992)_%7C_transferrin_%20_transport_%20_(GO:0033572)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_part_%20_of_%20_cell_%20_(GO:0045177)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_proton-transporting_%20_two-sector_%20_ATPase_%20_complex_%20_(GO:0016469)_%7C_proton-transporting_%20_V-type_%20_ATPase_%2C__%20_V1_%20_domain_%20_(GO:0033180)|hydrogen-exporting_%20_ATPase_%20_activity_%2C__%20_phosphorylative_%20_mechanism_%20_(GO:0008553)_%7C_proton-transporting_%20_ATPase_%20_activity_%2C__%20_rotational_%20_mechanism_%20_(GO:0046961)_%7C_transporter_%20_activity_%20_(GO:0005215)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr8 104433259 indel.102006 A AT . PASS FUNCOTATION=[DCAF13|hg19|chr8|104433259|104433260|FRAME_SHIFT_INS||INS|-|-|T|g.chr8:104433259_104433260insT|ENST00000297579.5|+|3|1060|c.783_784insT|c.(784-786)ggcfs|p.G262fs|0.33|AGCACATGAAGGCTTTGTAC|DCAF13_ENST00000519682.1_FRAME_SHIFT_INS_p.G106fs/DCAF13_ENST00000521971.1_INTRON/DCAF13_ENST00000521999.1_INTRON|||||||||||||||||||||||||182|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(44)_%7C_large_intestine(35)_%7C_pancreas(22)_%7C_stomach(47)|||||||BC112042|NM_015420.6|NP_056235.4|HGNC:24535|DDB1_%20_and_%20_CUL4_%20_associated_%20_factor_%20_13|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|WDSOF1|"WD_%20_repeats_%20_and_%20_SOF1_%20_domain_%20_containing"|DKFZP564O0463_%2C__%20_Gm83_%2C__%20_HSPC064_%2C__%20_Sof1||8q22.3|2017-05-26|2009-07-17|2009-07-17|AK074725||25879|ENSG00000164934|11042152_%2C__%20_16949367|NM_015420|498_%7C_362|DDB1_%20_and_%20_CUL4_%20_associated_%20_factors_%7C_WD_%20_repeat_%20_domain_%20_containing|CCDS34934|OTTHUMG00000164888|25879|616196|NM_015420|Q9NV06|ENSG00000164934|uc064pja.1|DCA13_HUMAN||Q3MII9_%7C_Q8NCH8_%7C_Q8TC51_%7C_Q96JY7_%7C_Q9NZX3|Q9NV06|protein_%20_ubiquitination_%20_(GO:0016567)_%7C_rRNA_%20_processing_%20_(GO:0006364)|Cul4-RING_%20_E3_%20_ubiquitin_%20_ligase_%20_complex_%20_(GO:0080008)_%7C_nucleus_%20_(GO:0005634)_%7C_ribonucleoprotein_%20_complex_%20_(GO:0030529)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr8 124359584 exm718993 G A . PASS FUNCOTATION=[ATAD2|hg19|chr8|124359584|124359584|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr8:124359584G>A|ENST00000521903.1|-|17|||||0.40648379052369077|TGTGGGTAGCGTCGTCGTAAA|ATAD2_ENST00000287394.5_MISSENSE_p.R654C/MIR548AA1_ENST00000384971.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||170|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_oesophagus(6)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(72)||||||||||HGNC:30123|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||PRO2000_%2C__%20_DKFZp667N1320_%2C__%20_MGC5254_%2C__%20_MGC29843_%2C__%20_CT137_%2C__%20_ANCCA|"AAA_%20_nuclear_%20_coregulator_%20_cancer-associated_%20_protein"|8q24.13|2017-11-27|2007-02-08||BC019909||29028|ENSG00000156802|26459632|NM_014109|413_%7C_1232|AAA_%20_ATPases_%7C_Bromodomain_%20_containing|CCDS6343|OTTHUMG00000165090|29028|611941|NM_014109|Q6PL18|ENSG00000156802|uc003yqh.5|ATAD2_HUMAN||Q14CR1_%7C_Q658P2_%7C_Q68CQ0_%7C_Q6PJV6_%7C_Q8N890_%7C_Q9UHS5|Q6PL18|ATP_%20_catabolic_%20_process_%20_(GO:0006200)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_ATPase_%20_activity_%20_(GO:0016887)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr8 140943503 rs2233230 C T . PASS FUNCOTATION=[C8orf17|hg19|chr8|140943503|140943503|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr8:140943503C>T|ENST00000507535.3|+|1|||||0.4937655860349127|CGAGCATACACGTAATCCTCA|TRAPPC9_ENST00000389328.4_INTRON/TRAPPC9_ENST00000438773.2_INTRON/TRAPPC9_ENST00000389327.3_INTRON|||||||||||||||||||||||||||||||||CH471060|||HGNC:17737|chromosome_%20_8_%20_open_%20_reading_%20_frame_%20_17|Approved|unknown|other|||MOST-1||8q24.3|2016-09-30|||AF220264||100507249|ENSG00000250733|17143515|||||OTTHUMG00000140391|100507249|616992||Q9NRJ1|ENSG00000250733|uc064qpr.1|MOST1_HUMAN|||Q9NRJ1||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_membrane_%20_(GO:0016020)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr8 143761931 exm-rs2294008 C T . PASS FUNCOTATION=[PSCA|hg19|chr8|143761931|143761931|DE_NOVO_START_IN_FRAME||SNP|C|C|T|g.chr8:143761931C>T|ENST00000301258.4|+|1|||||0.6483790523690773|CCAGTGACCACGAAGGCTGTG|PSCA_ENST00000513264.1_DE_NOVO_START_IN_FRAME/PSCA_ENST00000505305.1_INTRON|||||||||||||||||||||||||||||||||CH471162|NM_005672.4|NP_005663.2|HGNC:9500|prostate_%20_stem_%20_cell_%20_antigen|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||8q24.3|2016-10-25|||AF043498||8000|ENSG00000167653|9465086|NM_005672|1226|LY6/PLAUR_%20_domain_%20_containing|CCDS47925|OTTHUMG00000162077|8000|602470|NM_005672|O43653|ENSG00000167653|uc003ywu.4|PSCA_HUMAN||Q6UW92|O43653||anchored_%20_component_%20_of_%20_membrane_%20_(GO:0031225)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr8 144413416 rs2450772 G A . PASS FUNCOTATION=[TOP1MT|hg19|chr8|144413416|144413416|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr8:144413416G>A|ENST00000523676.1|-|3|||||0.6334164588528678|AACGCACTCCGTCGGGAAGGG|TOP1MT_ENST00000521193.1_DE_NOVO_START_OUT_FRAME/TOP1MT_ENST00000329245.4_SILENT_p.D72D/TOP1MT_ENST00000519148.1_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||112|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(21)|||||||BC071914|||HGNC:29787|DNA_%20_topoisomerase_%20_I_%20_mitochondrial|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"topoisomerase_%20_(DNA)_%20_I_%2C__%20_mitochondrial"|||8q24.3|2017-08-04||2017-08-04|AF349018||116447|ENSG00000184428|11526219|NM_052963|1050|Topoisomerases|CCDS6400_%2C__%20_CCDS59115|OTTHUMG00000164979|116447|606387|NM_001258446|Q969P6|ENSG00000184428|uc003yxz.6|TOP1M_HUMAN|Irinotecan(DB00762)_%7C_Topotecan(DB01030)|B7ZAR5_%7C_E7ES89_%7C_Q86ST4_%7C_Q86V82|Q969P6|DNA_%20_replication_%20_(GO:0006260)_%7C_DNA_%20_topological_%20_change_%20_(GO:0006265)|chromosome_%20_(GO:0005694)_%7C_mitochondrial_%20_nucleoid_%20_(GO:0042645)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_DNA_%20_topoisomerase_%20_type_%20_I_%20_activity_%20_(GO:0003917)_%7C_DNA_%20_topoisomerase_%20_type_%20_II_%20_(ATP-hydrolyzing)_%20_activity_%20_(GO:0003918)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr9 80855026 indel.104663 G GT . PASS FUNCOTATION=[CEP78|hg19|chr9|80855026|80855027|FRAME_SHIFT_INS||INS|-|-|T|g.chr9:80855026_80855027insT|ENST00000376597.4|+|2|485|c.341_342insT|c.(340-342)ggcfs|p.C115fs|0.3475|CTCTTAAAGGCTGTTTAAGT|CEP78_ENST00000424347.2_FRAME_SHIFT_INS_p.C115fs/CEP78_ENST00000415759.2_FRAME_SHIFT_INS_p.C115fs/CEP78_ENST00000277082.5_FRAME_SHIFT_INS_p.C115fs/CEP78_ENST00000376598.2_FRAME_SHIFT_INS_p.C115fs|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC128058|NM_001098802.1|NP_001092272.1|HGNC:25740|centrosomal_%20_protein_%20_78|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C9orf81|"chromosome_%20_9_%20_open_%20_reading_%20_frame_%20_81"_%2C__%20_"centrosomal_%20_protein_%20_78kDa"|FLJ12643||9q21.2|2016-03-30|2005-12-01|2016-03-30|BC058931||84131|ENSG00000148019|14654843|XM_095991|||CCDS47984_%2C__%20_CCDS47985_%2C__%20_CCDS83376_%2C__%20_CCDS83377_%2C__%20_CCDS83378|OTTHUMG00000020062|84131|617110|NM_001098802|Q5JTW2|ENSG00000148019|uc004aky.5|CEP78_HUMAN||A1A4S8_%7C_E9PHX5_%7C_Q5BJE3_%7C_Q5JTW0_%7C_Q5JTW1_%7C_Q9H9N3|Q5JTW2|G2/M_%20_transition_%20_of_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0000086)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)|centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr9 114355240 indel.105666 C CT . PASS FUNCOTATION=[PTGR1|hg19|chr9|114355240|114355241|FRAME_SHIFT_INS||INS|-|-|T|g.chr9:114355240_114355241insT|ENST00000407693.2|-|4|438|c.174_175insA|c.(175-177)gaafs|p.E59fs|0.3925|TATCACCTTCCTTCAATCTT|PTGR1_ENST00000309195.5_FRAME_SHIFT_INS_p.E59fs/PTGR1_ENST00000538962.1_FRAME_SHIFT_INS_p.E59fs/PTGR1_ENST00000238248.3_FIVE_PRIME_UTR|Ovarian(200_%3B_132_%20_2151_%20_7551_%20_19220_%20_46064)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||D49387|NM_001146108.1|NP_001139580.1|HGNC:18429|prostaglandin_%20_reductase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|LTB4DH|"leukotriene_%20_B4_%20_12-hydroxydehydrogenase"|ZADH3|"zinc_%20_binding_%20_alcohol_%20_dehydrogenase_%20_domain_%20_containing_%20_3"|9q31.3|2016-10-05|2008-06-02|2008-06-02|D49387|1.3.1.74_%2C__%20_1.3.1.48|22949|ENSG00000106853|8576264_%2C__%20_17449869||||CCDS6779_%2C__%20_CCDS55331|OTTHUMG00000020493|22949|601274|NM_001146108|Q14914|ENSG00000106853|uc004bfi.3|PTGR1_HUMAN||A8K0N2_%7C_B4DPK3_%7C_F5GY50_%7C_Q8IYQ0_%7C_Q9H1X6|Q14914|arachidonic_%20_acid_%20_metabolic_%20_process_%20_(GO:0019369)_%7C_cyclooxygenase_%20_pathway_%20_(GO:0019371)_%7C_leukotriene_%20_metabolic_%20_process_%20_(GO:0006691)_%7C_lipoxin_%20_metabolic_%20_process_%20_(GO:2001300)_%7C_response_%20_to_%20_toxic_%20_substance_%20_(GO:0009636)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|13-prostaglandin_%20_reductase_%20_activity_%20_(GO:0036132)_%7C_15-oxoprostaglandin_%20_13-oxidase_%20_activity_%20_(GO:0047522)_%7C_2-alkenal_%20_reductase_%20_[NAD(P)]_%20_activity_%20_(GO:0032440)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr9 125282025 indel.106072 G GTGTC . PASS FUNCOTATION=[OR1J4|hg19|chr9|125282025|125282026|FRAME_SHIFT_INS||INS|-|-|TGTC|g.chr9:125282025_125282026insTGTC|ENST00000340750.1|+|1|606|c.606_607insTGTC|c.(607-609)ggafs|p.G203fs|0.4875|TTTCACAGTGGGACAGGCAG||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X64979|NM_001004452.1|NP_001004452.1|HGNC:8211|olfactory_%20_receptor_%20_family_%20_1_%20_subfamily_%20_J_%20_member_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"olfactory_%20_receptor_%2C__%20_family_%20_1_%2C__%20_subfamily_%20_J_%2C__%20_member_%20_4"|HTPCRX01_%2C__%20_HSHTPCRX01||9q33.2|2015-12-09||2015-12-09|X64979||26219|ENSG00000239590|1370859||147|Olfactory_%20_receptors_%2C__%20_family_%20_1|CCDS35122|OTTHUMG00000020606|26219||NM_001004452|Q8NGS1|ENSG00000239590|uc011lyw.2|OR1J4_HUMAN||A3KFM0_%7C_Q6IEZ3_%7C_Q96R89|Q8NGS1||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr9 131221884 exm785426 C T . PASS FUNCOTATION=[ODF2|hg19|chr9|131221884|131221884|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr9:131221884C>T|ENST00000393527.3|+|3|||||0.4937655860349127|ACGAGTCTCACGCAGAAAAAG|ODF2_ENST00000448249.3_DE_NOVO_START_OUT_FRAME/ODF2_ENST00000434106.3_MISSENSE_p.T24M/ODF2_ENST00000604420.1_MISSENSE_p.T24M/ODF2_ENST00000372791.3_MISSENSE_p.T24M/ODF2_ENST00000372814.3_MISSENSE_p.T68M/ODF2_ENST00000546203.1_MISSENSE_p.T24M/ODF2_ENST00000393533.2_MISSENSE_p.T24M/ODF2_ENST00000351030.3_DE_NOVO_START_IN_FRAME/ODF2_ENST00000535026.1_DE_NOVO_START_OUT_FRAME/ODF2_ENST00000372807.5_FIVE_PRIME_FLANK/ODF2_ENST00000444119.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC012785|NM_002540.4|NP_002531.3|HGNC:8114|outer_%20_dense_%20_fiber_%20_of_%20_sperm_%20_tails_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"outer_%20_dense_%20_fibre_%20_of_%20_sperm_%20_tails_%20_2"|ODF84_%2C__%20_CT134|"cancer/testis_%20_antigen_%20_134"_%2C__%20_"cenexin"|9q34.11|2016-10-05||2002-10-21|AF012549||4957|ENSG00000136811|9045620_%2C__%20_10072582||||CCDS6902_%2C__%20_CCDS56585_%2C__%20_CCDS56586_%2C__%20_CCDS56587_%2C__%20_CCDS56588_%2C__%20_CCDS56589_%2C__%20_CCDS56590|OTTHUMG00000020748|4957|602015|NM_001242352|Q5BJF6|ENSG00000136811|uc064wes.1|ODFP2_HUMAN||B1AND3_%7C_B4DRK4_%7C_B4DX73_%7C_B4DZ02_%7C_E7EWL2_%7C_F5H6J4_%7C_O14721_%7C_O60631_%7C_Q1W2J6_%7C_Q6UN26_%7C_Q7Z5I6_%7C_Q96FN2|Q5BJF6|G2/M_%20_transition_%20_of_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0000086)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_regulation_%20_of_%20_cilium_%20_assembly_%20_(GO:1902017)_%7C_spermatid_%20_development_%20_(GO:0007286)|centriole_%20_(GO:0005814)_%7C_centrosome_%20_(GO:0005813)_%7C_ciliary_%20_basal_%20_body_%20_(GO:0036064)_%7C_cytosol_%20_(GO:0005829)_%7C_microtubule_%20_(GO:0005874)_%7C_nucleus_%20_(GO:0005634)_%7C_outer_%20_dense_%20_fiber_%20_(GO:0001520)_%7C_primary_%20_cilium_%20_(GO:0072372)|Rab_%20_GTPase_%20_binding_%20_(GO:0017137)_%7C_structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr9 133327612 exm788586 C T . PASS FUNCOTATION=[ASS1|hg19|chr9|133327612|133327612|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr9:133327612C>T|ENST00000372394.1|+|3|||||0.6234413965087282|TCCCGCCAGACGCTATGTCCA|ASS1_ENST00000352480.5_DE_NOVO_START_OUT_FRAME/ASS1_ENST00000372393.3_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X01630|||HGNC:758|argininosuccinate_%20_synthase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ASS|"argininosuccinate_%20_synthetase"|CTLN1||9q34.11|2016-10-05|2006-08-24|2010-04-20|X01630|6.3.4.5|445|ENSG00000130707|3513483_%2C__%20_852520|NM_000050|||CCDS6933|OTTHUMG00000020806|445|603470|NM_000050|P00966|ENSG00000130707|uc004bzn.4|ASSY_HUMAN|Adenosine_%20_triphosphate(DB00171)_%7C_L-Arginine(DB00125)_%7C_L-Aspartic_%20_Acid(DB00128)_%7C_L-Citrulline(DB00155)|Q6LDL2_%7C_Q86UZ0_%7C_Q96GT4|P00966|acute-phase_%20_response_%20_(GO:0006953)_%7C_aging_%20_(GO:0007568)_%7C_arginine_%20_biosynthetic_%20_process_%20_(GO:0006526)_%7C_argininosuccinate_%20_metabolic_%20_process_%20_(GO:0000053)_%7C_aspartate_%20_metabolic_%20_process_%20_(GO:0006531)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_cellular_%20_response_%20_to_%20_amine_%20_stimulus_%20_(GO:0071418)_%7C_cellular_%20_response_%20_to_%20_amino_%20_acid_%20_stimulus_%20_(GO:0071230)_%7C_cellular_%20_response_%20_to_%20_ammonium_%20_ion_%20_(GO:0071242)_%7C_cellular_%20_response_%20_to_%20_cAMP_%20_(GO:0071320)_%7C_cellular_%20_response_%20_to_%20_dexamethasone_%20_stimulus_%20_(GO:0071549)_%7C_cellular_%20_response_%20_to_%20_glucagon_%20_stimulus_%20_(GO:0071377)_%7C_cellular_%20_response_%20_to_%20_interferon-gamma_%20_(GO:0071346)_%7C_cellular_%20_response_%20_to_%20_laminar_%20_fluid_%20_shear_%20_stress_%20_(GO:0071499)_%7C_cellular_%20_response_%20_to_%20_lipopolysaccharide_%20_(GO:0071222)_%7C_cellular_%20_response_%20_to_%20_oleic_%20_acid_%20_(GO:0071400)_%7C_cellular_%20_response_%20_to_%20_tumor_%20_necrosis_%20_factor_%20_(GO:0071356)_%7C_citrulline_%20_metabolic_%20_process_%20_(GO:0000052)_%7C_diaphragm_%20_development_%20_(GO:0060539)_%7C_kidney_%20_development_%20_(GO:0001822)_%7C_liver_%20_development_%20_(GO:0001889)_%7C_midgut_%20_development_%20_(GO:0007494)_%7C_negative_%20_regulation_%20_of_%20_leukocyte_%20_cell-cell_%20_adhesion_%20_(GO:1903038)_%7C_positive_%20_regulation_%20_of_%20_nitric_%20_oxide_%20_biosynthetic_%20_process_%20_(GO:0045429)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_response_%20_to_%20_estradiol_%20_(GO:0032355)_%7C_response_%20_to_%20_growth_%20_hormone_%20_(GO:0060416)_%7C_response_%20_to_%20_mycotoxin_%20_(GO:0010046)_%7C_response_%20_to_%20_nutrient_%20_(GO:0007584)_%7C_response_%20_to_%20_zinc_%20_ion_%20_(GO:0010043)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_urea_%20_cycle_%20_(GO:0000050)|cell_%20_body_%20_fiber_%20_(GO:0070852)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_lysosome_%20_(GO:0005764)_%7C_mitochondrial_%20_outer_%20_membrane_%20_(GO:0005741)_%7C_nucleus_%20_(GO:0005634)_%7C_perikaryon_%20_(GO:0043204)|amino_%20_acid_%20_binding_%20_(GO:0016597)_%7C_argininosuccinate_%20_synthase_%20_activity_%20_(GO:0004055)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_toxic_%20_substance_%20_binding_%20_(GO:0015643)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr9 139371562 exm798457 G A . PASS FUNCOTATION=[SEC16A|hg19|chr9|139371562|139371562|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr9:139371562G>A|ENST00000371706.3|-|1|||||0.6084788029925187|CCCATGAGACGTTTCAGGATC|SEC16A_ENST00000313050.7_MISSENSE_p.T169M/SEC16A_ENST00000290037.6_FIVE_PRIME_FLANK/SEC16A_ENST00000431893.2_FIVE_PRIME_FLANK|||||||||||||||||||||||SEC16A{ENST00000313050}:r.1_118_NOTCH1{ENST00000277541}:r.5244_9371(2)_%7C_SEC16A{ENST00000313050}:r.1_118_NOTCH1{ENST00000277541}:r.5095_9371(2)||157|genital_tract(91)_%7C_testis(65)_%7C_upper_aerodigestive_tract(1)|||||||DQ903855|NM_001276418.1|NP_001263347.1|HGNC:29006|SEC16_%20_homolog_%20_A_%2C__%20_endoplasmic_%20_reticulum_%20_export_%20_factor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0310|"KIAA0310"_%2C__%20_"SEC16_%20_homolog_%20_A_%20_(S._%20_cerevisiae)"|p250_%2C__%20_Sec16L||9q34.3|2015-07-23|2007-06-20|2015-07-23|AK074565||9919|ENSG00000148396|17192411_%2C__%20_21045114|NM_014866|||CCDS55351_%2C__%20_CCDS75936|OTTHUMG00000020932|9919|612854|NM_001276418|O15027|ENSG00000148396|uc064xcg.1|SC16A_HUMAN||A1YCA4_%7C_Q4G0D7_%7C_Q5SXP0_%7C_Q5SXP1_%7C_Q8N347_%7C_Q96HP1|O15027|COPII_%20_vesicle_%20_coating_%20_(GO:0048208)_%7C_endoplasmic_%20_reticulum_%20_organization_%20_(GO:0007029)_%7C_protein_%20_transport_%20_(GO:0015031)_%7C_substantia_%20_nigra_%20_development_%20_(GO:0021762)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_membrane_%20_(GO:0000139)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chrX 148582542 exm1661263 A C . PASS FUNCOTATION=[IDS|hg19|chrX|148582542|148582542|DE_NOVO_START_OUT_FRAME||SNP|A|A|C|g.chrX:148582542A>C|ENST00000422081.2|-|4|||||0.3940149625935162|CTATACGGAGAATCATCGGTA|IDS_ENST00000340855.6_MISSENSE_p.S149A/IDS_ENST00000370441.4_MISSENSE_p.S149A/IDS_ENST00000541269.1_DE_NOVO_START_OUT_FRAME/IDS_ENST00000370443.4_MISSENSE_p.S149A/IDS_ENST00000490775.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471171|||HGNC:5389|iduronate_%20_2-sulfatase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SIDS|||"Hunter_%20_syndrome"|Xq28|2016-10-05||2008-08-01|M58342|3.1.6.13|3423|ENSG00000010404|||410|Sulfatases|CCDS14685_%2C__%20_CCDS14686|OTTHUMG00000022615|3423|300823|NM_000202|P22304|ENSG00000010404|uc011mxe.3|IDS_HUMAN||D3DWT4_%7C_Q14604_%7C_Q9BRM3|P22304|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_catabolic_%20_process_%20_(GO:0030207)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_glycosaminoglycan_%20_catabolic_%20_process_%20_(GO:0006027)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|lysosomal_%20_lumen_%20_(GO:0043202)|iduronate-2-sulfatase_%20_activity_%20_(GO:0004423)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chrM 72 2010-08-MT-841 T C . PASS FUNCOTATION=[MT-ND1|hg19|chrM|72|72|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:72T>C|ENST00000361390.2|+||||||0.4375|GTCTGGGGGGTATGCACGCGA|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chrM 125 200610-102 T C . PASS FUNCOTATION=[MT-ND1|hg19|chrM|125|125|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:125T>C|ENST00000361390.2|+||||||0.4523076923076923|TATGTCGCAGTATCTGTCTTT|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chrM 212 200610-104 T C . PASS FUNCOTATION=[MT-ND1|hg19|chrM|212|212|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:212T>C|ENST00000361390.2|+||||||0.4389027431421446|AGTGTGTTAATTAATTAATGC|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chrM 217 exm-rs41531144 T C . PASS FUNCOTATION=[MT-ND1|hg19|chrM|217|217|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:217T>C|ENST00000361390.2|+||||||0.44139650872817954|GTTAATTAATTAATGCTTGTA|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chrM 228 exm-rs41323649 G A . PASS FUNCOTATION=[MT-ND1|hg19|chrM|228|228|FIVE_PRIME_FLANK||SNP|G|G|A|g.chrM:228G>A|ENST00000361390.2|+||||||0.43640897755610975|AATGCTTGTAGGACATAATAA|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chrM 236 200610-105 T C . PASS FUNCOTATION=[MT-ND1|hg19|chrM|236|236|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:236T>C|ENST00000361390.2|+||||||0.4389027431421446|TAGGACATAATAATAACAATT|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chrM 246 200610-106 T C . PASS FUNCOTATION=[MT-ND1|hg19|chrM|246|246|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:246T>C|ENST00000361390.2|+||||||0.4339152119700748|TAATAACAATTGAATGTCTGC|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chrM 295 exm-rs41528348 C T . PASS FUNCOTATION=[MT-ND1|hg19|chrM|295|295|FIVE_PRIME_FLANK||SNP|C|C|T|g.chrM:295C>T|ENST00000361390.2|+||||||0.42144638403990026|CAAAAAATTTCCACCAAACCC|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chrM 489 exm-rs28625645 T C . PASS FUNCOTATION=[MT-ND1|hg19|chrM|489|489|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:489T>C|ENST00000361390.2|+||||||0.46633416458852867|ATCTCATCAATACAACCCCCG|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chrM 499 exm-rs3901846 G A . PASS FUNCOTATION=[MT-ND1|hg19|chrM|499|499|FIVE_PRIME_FLANK||SNP|G|G|A|g.chrM:499G>A|ENST00000361390.2|+||||||0.4688279301745636|TACAACCCCCGCCCATCCTAC|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chrM 1719 exm-rs3928305 G A . PASS FUNCOTATION=[MT-ND1|hg19|chrM|1719|1719|FIVE_PRIME_FLANK||SNP|G|G|A|g.chrM:1719G>A|ENST00000361390.2|+||||||0.4114713216957606|GACAACCTTAGCCAAACCATT|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-CO1_ENST00000361624.2_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_RNA/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-TW_ENST00000387382.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chrM 3316 exm-rs2853516 G A . PASS FUNCOTATION=[MT-ND1|hg19|chrM|3316|3316|MISSENSE||SNP|G|G|A|g.chrM:3316G>A|ENST00000361390.2|+|1|10|c.10G>A|c.(10-12)Gcc>Acc|p.A4T|0.4613466334164589|CATACCCATGGCCAACCTCCT|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-CO1_ENST00000361624.2_FIVE_PRIME_FLANK/MT-CO2_ENST00000361739.1_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-TW_ENST00000387382.1_FIVE_PRIME_FLANK/MT-TD_ENST00000387419.1_FIVE_PRIME_FLANK/MT-TK_ENST00000387421.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 752566 rs3094315 G A . PASS FUNCOTATION=[RP11-206L10.10|hg19|chr1|752566|752566|RNA||SNP|G|G|A|g.chr1:752566G>A|ENST00000435300.1|-|||c.e1-187C>T|||0.3690773067331671|CAAGAGAAACGTTTGACAGAG|FAM87B_ENST00000326734.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2817_%2C_0.7183|false|false|1||false|true|false|FAM87B:400728|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|true|false|3094315|752566|true|false|0|true|0|false|0.351947_%2C_0.648053|false|false|false|SNV|true|0x05012802000515053f000101|1|false|103|rs3094315|] +1 752721 rs3131972 A G . PASS FUNCOTATION=[RP11-206L10.10|hg19|chr1|752721|752721|RNA||SNP|A|A|G|g.chr1:752721A>G|ENST00000435300.1|-|||c.e1-32T>C|||0.486284289276808|AGAAAGGAAAAGGGAAGAATG|FAM87B_ENST00000326734.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3466_%2C_0.6534|false|false|1||false|true|true|FAM87B:400728|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3131972|752721|true|false|0|true|0|false|0.393296_%2C_0.606704|false|false|false|SNV|true|0x05010002000517053f000100|1|false|103|rs3131972|] +1 762320 exm2268640 C T . PASS FUNCOTATION=[LINC00115|hg19|chr1|762320|762320|LINCRNA||SNP|C|C|T|g.chr1:762320C>T|ENST00000473798.1|-|||c.e1-582G>A|||0.6084788029925187|ACCCAACAGTCACCGCTAGTG|RP11-206L10.11_ENST00000445118.2_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||HGNC:26211|long_%20_intergenic_%20_non-protein_%20_coding_%20_RNA_%20_115|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|NCRNA00115|"non-protein_%20_coding_%20_RNA_%20_115"|FLJ22639||1p36.33|2014-11-18|2011-08-11|2011-08-11|BC017762||79854|ENSG00000225880|12477932|XR_017693||||OTTHUMG00000141258|79854||NR_024321||ENSG00000225880|uc010nxx.3|||||||||||true|false|0.9305_%2C_0.06949|false|false|1||false|true|false|LINC01128:643837_%7C_LINC00115:79854|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|75333668|762320|false|false|0|true|0|false||false|false|false|SNV|true|0x050100020005150436000100|1|false|131|rs75333668|] +1 798959 rs11240777 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|798959|798959|IGR||SNP|G|G|A|g.chr1:798959G>A|no_transcript|||||||0.4089775561097257|TGGGCTTTAAGGTATGACTAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 838555 rs4970383 C A . PASS FUNCOTATION=[RP11-54O7.16|hg19|chr1|838555|838555|FIVE_PRIME_FLANK||SNP|C|C|A|g.chr1:838555C>A|ENST00000607769.1|+||||||0.5511221945137157|GACCCCATTTCACCTTAATCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 846808 rs4475691 C T . PASS FUNCOTATION=[RP11-54O7.16|hg19|chr1|846808|846808|LINCRNA||SNP|C|C|T|g.chr1:846808C>T|ENST00000607769.1|+|||c.e2-4322C>T|||0.6059850374064838|TGGTGAGCTGCGCCTTTGTGC|RP11-54O7.2_ENST00000398216.2_FIVE_PRIME_FLANK/RP11-54O7.1_ENST00000448179.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7452_%2C_0.2548|false|false|1||false|true|true|LOC284600:284600|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|4475691|846808|false|false|0|true|0|false|0.725634_%2C_0.274366|false|false|false|SNV|true|0x05010002000517053e000100|1|false|111|rs4475691|] +1 861349 exm41 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|861349|861349|MISSENSE||SNP|C|C|T|g.chr1:861349C>T|ENST00000342066.3|+|2|111|c.28C>T|c.(28-30)Cct>Tct|p.P10S|0.6533665835411472|GCAGGTGCATCCTCCGATCTG|AL645608.1_ENST00000598827.1_MISSENSE_p.G84E|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200686669|861349|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs200686669|] +1 861808 rs13302982 A G . PASS FUNCOTATION=[SAMD11|hg19|chr1|861808|861808|INTRON||SNP|A|A|G|g.chr1:861808A>G|ENST00000342066.3|+|||c.e2+415A>G|||0.6134663341645885|GGACGACAGCATTTTGGGGAG|AL645608.1_ENST00000598827.1_INTRON|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.3177_%2C_0.6823|false|false|1||false|true|false|SAMD11:148398|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|13302982|861808|false|false|0|true|0|false|0.289649_%2C_0.710351|false|false|false|SNV|true|0x05010008000515053f000100|1|false|121|rs13302982|] +1 865545 exm1916089 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865545|865545|MISSENSE||SNP|G|G|A|g.chr1:865545G>A|ENST00000342066.3|+|3|166|c.83G>A|c.(82-84)cGg>cAg|p.R28Q|0.6683291770573566|AACCGGGGGCGGCTGGCAGAC|AL645608.1_ENST00000598827.1_INTRON|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9972_%2C_0.002796|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201186828|865545|false|false|0|false|0|false|0.997012_%2C_0.00298784|false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs201186828|] +1 865584 exm44 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865584|865584|MISSENSE||SNP|G|G|A|g.chr1:865584G>A|ENST00000342066.3|+|3|205|c.122G>A|c.(121-123)cGg>cAg|p.R41Q|0.6683291770573566|CCTGCCGCCCGGAACCTGAAG|AL645608.1_ENST00000598827.1_MISSENSE_p.P53L|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.989_%2C_0.01098|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|148711625|865584|false|false|0|true|0|false|0.986984_%2C_0.013016|false|false|false|SNV|true|0x050100000a05140436000100|1|false|134|rs148711625|] +1 865625 exm46 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865625|865625|MISSENSE||SNP|G|G|A|g.chr1:865625G>A|ENST00000342066.3|+|3|246|c.163G>A|c.(163-165)Gat>Aat|p.D55N|0.6583541147132169|CTCTGCCAGCGATGGTGACAG|AL645608.1_ENST00000598827.1_SILENT_p.I39I|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9986_%2C_0.001398|false|false|1||false|false|false|SAMD11:148398|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146327803|865625|false|false|0|false|0|false|0.99763_%2C_0.00236967|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs146327803|] +1 865628 exm47 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865628|865628|MISSENSE||SNP|G|G|A|g.chr1:865628G>A|ENST00000342066.3|+|3|249|c.166G>A|c.(166-168)Ggt>Agt|p.G56S|0.655860349127182|TGCCAGCGATGGTGACAGCGA|AL645608.1_ENST00000598827.1_SILENT_p.T38T|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9972_%2C_0.002796|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|41285790|865628|false|false|0|true|0|false|0.996909_%2C_0.00309087|false|false|false|SNV|true|0x050100000a05040436000100|1|false|127|rs41285790|] +1 865662 exm51 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865662|865662|MISSENSE||SNP|G|G|A|g.chr1:865662G>A|ENST00000342066.3|+|3|283|c.200G>A|c.(199-201)cGg>cAg|p.R67Q|0.6433915211970075|ACCTGTGGGCGGCGGCCAGGC|AL645608.1_ENST00000598827.1_SPLICE_SITE|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9992_%2C_0.0007987|false|false|0||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|140751899|865662|false|false|0|false|0|false|0.997836_%2C_0.00216361|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs140751899|] +1 865665 exm53 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865665|865665|MISSENSE||SNP|G|G|A|g.chr1:865665G>A|ENST00000342066.3|+|3|286|c.203G>A|c.(202-204)cGg>cAg|p.R68Q|0.6408977556109726|TGTGGGCGGCGGCCAGGCTTG|AL645608.1_ENST00000598827.1_SPLICE_SITE|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|145442390|865665|false|false|0|false|0|false|0.999141_%2C_0.000858575|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs145442390|] +1 865694 exm55 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|865694|865694|MISSENSE||SNP|C|C|T|g.chr1:865694C>T|ENST00000342066.3|+|3|315|c.232C>T|c.(232-234)Cac>Tac|p.H78Y|0.6359102244389028|GGATGGTCCGCACATCCGTAT|AL645608.1_ENST00000598827.1_MISSENSE_p.C18Y|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9475_%2C_0.05252|false|false|1||false|true|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|9988179|865694|false|false|0|true|0|false|0.976441_%2C_0.0235593|false|false|false|SNV|true|0x050100000a05150436000100|1|false|119|rs9988179|] +1 865700 exm56 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|865700|865700|MISSENSE||SNP|C|C|T|g.chr1:865700C>T|ENST00000342066.3|+|3|321|c.238C>T|c.(238-240)Cgt>Tgt|p.R80C|0.6384039900249376|TCCGCACATCCGTATCATGAA|AL645608.1_ENST00000598827.1_MISSENSE_p.R16Q|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|116730894|865700|false|false|0|true|0|false|0.997802_%2C_0.00219795|false|false|false|SNV|true|0x050100000a05040436000100|1|false|132|rs116730894|] +1 866429 exm60 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|866429|866429|MISSENSE||SNP|C|C|T|g.chr1:866429C>T|ENST00000342066.3|+|4|348|c.265C>T|c.(265-267)Cac>Tac|p.H89Y|0.6384039900249376|AGTCCACACCCACTGGGACGT|AL645608.1_ENST00000598827.1_NONSENSE_p.W6*|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144317111|866429|false|false|0|false|0|false|0.999691_%2C_0.000309108|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs144317111|] +1 866438 exm63 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|866438|866438|MISSENSE||SNP|G|G|A|g.chr1:866438G>A|ENST00000342066.3|+|4|357|c.274G>A|c.(274-276)Gtg>Atg|p.V92M|0.6408977556109726|CCACTGGGACGTGAACATCTC|AL645608.1_ENST00000598827.1_MISSENSE_p.T3M|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|SAMD11:148398|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144010167|866438|false|false|0|false|0|false|0.99976_%2C_0.000240418|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs144010167|] +1 871159 exm67 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|871159|871159|MISSENSE||SNP|G|G|A|g.chr1:871159G>A|ENST00000342066.3|+|5|396|c.313G>A|c.(313-315)Ggc>Agc|p.G105S|0.6683291770573566|CAGCCAGGACGGCAACCTTCC|AL645608.1_ENST00000598827.1_FIVE_PRIME_FLANK/SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|SAMD11:148398|false|false|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|143282473|871159|false|false|0|false|0|false|0.999691_%2C_0.000309087|false|false|false|SNV|true|0x050000000a05040036000100|1|false|134|rs143282473|] +1 871213 exm74 C G . PASS FUNCOTATION=[SAMD11|hg19|chr1|871213|871213|MISSENSE||SNP|C|C|G|g.chr1:871213C>G|ENST00000342066.3|+|5|450|c.367C>G|c.(367-369)Ccc>Gcc|p.P123A|0.6783042394014963|CCTCGTTATGCCCGAGCATCA|AL645608.1_ENST00000598827.1_FIVE_PRIME_FLANK/SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144490434|871213|false|false|0|false|0|false|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs144490434|] +1 871228 exm76 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|871228|871228|MISSENSE||SNP|C|C|T|g.chr1:871228C>T|ENST00000342066.3|+|5|465|c.382C>T|c.(382-384)Cgc>Tgc|p.R128C|0.6608478802992519|GCATCAGAGCCGCTGTGAATT|AL645608.1_ENST00000598827.1_FIVE_PRIME_FLANK/SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|142210309|871228|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs142210309|] +1 871276 exm85 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|871276|871276|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:871276G>A|ENST00000342066.3|+|5|513|c.430G>A|c.(430-432)Ggt>Agt|p.G144S|0.6758104738154613|GCGACCCGCCGGTGAGGAGCA|AL645608.1_ENST00000598827.1_FIVE_PRIME_FLANK/SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146347471|871276|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs146347471|] +1 871276 exm85 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|871276|871276|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:871276G>A|ENST00000342066.3|+|5|513|c.430G>A|c.(430-432)Ggt>Agt|p.G144S|0.6758104738154613|GCGACCCGCCGGTGAGGAGCA|AL645608.1_ENST00000598827.1_FIVE_PRIME_FLANK/SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146347471|871276|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs146347471|] +1 874456 exm88 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|874456|874456|MISSENSE||SNP|G|G|A|g.chr1:874456G>A|ENST00000342066.3|+|6|550|c.467G>A|c.(466-468)cGt>cAt|p.R156H|0.6533665835411472|CGCTCCCCCCGTATCAGCAGC|SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.999_%2C_0.0009984_%2C_._%2C_.|false|false|0||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149677938|874456|false|false|0|false|0|false|0.998626_%2C_0.00127069_%2C_0.000103029_%2C_.|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs149677938|] +1 874501 exm94 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|874501|874501|MISSENSE||SNP|C|C|T|g.chr1:874501C>T|ENST00000342066.3|+|6|595|c.512C>T|c.(511-513)tCg>tTg|p.S171L|0.6658354114713217|CGAAGCGAATCGCCTCAAGGT|SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199625867|874501|false|false|0|false|0|false|0.999725_%2C_0.000274744|false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs199625867|] +1 874673 exm101 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|874673|874673|MISSENSE||SNP|G|G|A|g.chr1:874673G>A|ENST00000342066.3|+|7|622|c.539G>A|c.(538-540)cGg>cAg|p.R180Q|0.6633416458852868|CTGCTGCCGCGGGAGCTGGGG|SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|112419559|874673|false|false|0|true|0|false|0.999554_%2C_0.000446459|false|false|false|SNV|true|0x050100000a05040502000100|1|false|132|rs112419559|] +1 874714 exm104 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|874714|874714|MISSENSE||SNP|C|C|T|g.chr1:874714C>T|ENST00000342066.3|+|7|663|c.580C>T|c.(580-582)Cgg>Tgg|p.R194W|0.6733167082294265|CCATTACCGCCGGCTTGTGTC|SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9992_%2C_0.0007987|false|false|0||false|false|false|SAMD11:148398|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201596485|874714|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs201596485|] +1 874762 exm106 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|874762|874762|MISSENSE||SNP|C|C|T|g.chr1:874762C>T|ENST00000342066.3|+|7|711|c.628C>T|c.(628-630)Cgc>Tgc|p.R210C|0.6683291770573566|GGACCCTCAGCGCCTCTACCA|SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9984_%2C_0.001597|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|139437968|874762|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs139437968|] +1 877556 exm116 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|877556|877556|MISSENSE||SNP|G|G|A|g.chr1:877556G>A|ENST00000342066.3|+|9|993|c.910G>A|c.(910-912)Gcc>Acc|p.A304T|0.7605985037406484|GCCGCAGAATGCCCCTCACGT||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201313326|877556|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000080a05040402000100|1|false|137|rs201313326|] +1 878250 exm2233917 A G . PASS FUNCOTATION=[SAMD11|hg19|chr1|878250|878250|MISSENSE||SNP|A|A|G|g.chr1:878250A>G|ENST00000342066.3|+|11|1459|c.1376A>G|c.(1375-1377)gAt>gGt|p.D459G|0.7406483790523691|TGGGCACAAGATGGCTCGGAA||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9998_%2C_._%2C_0.0001997|false|false|0||false|false|false|SAMD11:148398|false|true|true|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|552457744|878250|false|false|0|false|0|false|0.999931_%2C_._%2C_6.8686e-005|false|false|false|SNV|true|0x050000080a05040426000100|1|false|142|rs552457744|] +1 878423 exm145 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|878423|878423|MISSENSE||SNP|C|C|T|g.chr1:878423C>T|ENST00000342066.3|+|11|1632|c.1549C>T|c.(1549-1551)Ccc>Tcc|p.P517S|0.6583541147132169|TGCCGTCAGCCCCTACTTCCA||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|SAMD11:148398|false|true|true|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201075481|878423|false|false|0|false|0|false|0.999588_%2C_0.000412116|false|false|false|SNV|true|0x050000080a05040426000100|1|false|137|rs201075481|] +1 878697 exm151 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|878697|878697|NONSENSE||SNP|G|G|A|g.chr1:878697G>A|ENST00000342066.3|+|12|1712|c.1629G>A|c.(1627-1629)tgG>tgA|p.W543*|0.6458852867830424|TCACCAAGTGGACCGTGGATG||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|147226614|878697|false|true|0|false|0|false||false|false|false|SNV|true|0x050200080605040402000100|1|false|134|rs147226614|] +1 878744 exm158 G C . PASS FUNCOTATION=[SAMD11|hg19|chr1|878744|878744|MISSENSE||SNP|G|G|C|g.chr1:878744G>C|ENST00000342066.3|+|12|1759|c.1676G>C|c.(1675-1677)gGa>gCa|p.G559A|0.6159600997506235|TCTGGCTGTGGAGAGTACACT||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9968_%2C_0.003195|false|false|1||false|false|false|SAMD11:148398|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|138897766|878744|false|true|0|false|0|false|0.998867_%2C_0.00113332|false|false|false|SNV|true|0x050200080a05040436000100|1|false|134|rs138897766|] +1 879297 exm174 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|879297|879297|MISSENSE||SNP|C|C|T|g.chr1:879297C>T|ENST00000342066.3|+|14|1893|c.1810C>T|c.(1810-1812)Cgc>Tgc|p.R604C|0.6658354114713217|GGTGGCCAGGCGCCTGGGCCG||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398_%7C_NOC2L:26155|false|true|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|false|true|140566193|879297|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x0500000c0a05040402000100|1|false|134|rs140566193|] +1 879364 exm1917884 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|879364|879364|MISSENSE||SNP|G|G|A|g.chr1:879364G>A|ENST00000342066.3|+|14|1960|c.1877G>A|c.(1876-1878)cGg>cAg|p.R626Q|0.6733167082294265|CCAACCCTGCGGGCCCCGGAG||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|SAMD11:148398_%7C_NOC2L:26155|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|true|false|true|201551514|879364|false|false|0|false|0|true|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x0500000c0b05040436000100|1|false|137|rs201551514|] +1 879381 exm192 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|879381|879381|MISSENSE||SNP|C|C|T|g.chr1:879381C>T|ENST00000342066.3|+|14|1977|c.1894C>T|c.(1894-1896)Ctc>Ttc|p.L632F|0.6683291770573566|GGAGCGAGAACTCGGCACAGG||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9922_%2C_0.007788|false|false|1||false|false|false|SAMD11:148398_%7C_NOC2L:26155|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|true|false|true|116362966|879381|false|false|0|true|0|false|0.992685_%2C_0.00731506|false|false|false|SNV|true|0x0501000c0a0504043e000100|1|false|132|rs116362966|] +1 879439 exm2275405 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|879439|879439|MISSENSE||SNP|G|G|A|g.chr1:879439G>A|ENST00000342066.3|+|14|2035|c.1952G>A|c.(1951-1953)gGc>gAc|p.G651D|0.6433915211970075|TATGGAGGGGGCCACGCCCTT||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398_%7C_NOC2L:26155|false|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|true|false|true|150064100|879439|false|false|0|false|0|true||false|false|false|SNV|true|0x0500000c0b05040416000100|1|false|134|rs150064100|] +1 879481 exm210 G C . PASS FUNCOTATION=[SAMD11|hg19|chr1|879481|879481|MISSENSE||SNP|G|G|C|g.chr1:879481G>C|ENST00000342066.3|+|14|2077|c.1994G>C|c.(1993-1995)gGg>gCg|p.G665A|0.5985037406483791|CAGGAGAATGGGACCTTGGCT||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9802_%2C_0.01977|false|false|1||false|true|false|SAMD11:148398_%7C_NOC2L:26155|true|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|true|false|true|113383096|879481|false|false|0|true|0|false|0.966619_%2C_0.0333814|false|false|false|SNV|true|0x0501000c0a05150536000100|1|false|132|rs113383096|] +1 880160 exm222 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|880160|880160|MISSENSE||SNP|C|C|T|g.chr1:880160C>T|ENST00000327044.6|-|19|2214|c.2164G>A|c.(2164-2166)Gcg>Acg|p.A722T|0.6034912718204489|GCCAGCCCCGCCTCTGCGTCT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|SAMD11:148398_%7C_NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|false|true|200633429|880160|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000040a05040402000100|1|false|137|rs200633429|] +1 880167 exm2253572 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|880167|880167|SILENT||SNP|G|G|A|g.chr1:880167G>A|ENST00000327044.6|-|19|2207|c.2157C>T|c.(2155-2157)gaC>gaT|p.D719D|0.6134663341645885|CCGCCTCTGCGTCTGGGTCTC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|SAMD11:148398_%7C_NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|201894720|880167|false|false|0|false|0|true||false|false|false|SNV|true|0x050000040305040402000100|1|false|137|rs201894720|] +1 880466 exm233 T C . PASS FUNCOTATION=[NOC2L|hg19|chr1|880466|880466|MISSENSE||SNP|T|T|C|g.chr1:880466T>C|ENST00000327044.6|-|18|2164|c.2114A>G|c.(2113-2115)gAg>gGg|p.E705G|0.6259351620947631|CTCCTCGCCCTCCTCCTCGTC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9954_%2C_0.004593|false|false|1||false|false|false|NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|138652036|880466|false|false|0|false|0|false|0.999897_%2C_0.000103029|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs138652036|] +1 880502 exm241 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|880502|880502|MISSENSE||SNP|C|C|T|g.chr1:880502C>T|ENST00000327044.6|-|18|2128|c.2078G>A|c.(2077-2079)cGg>cAg|p.R693Q|0.6408977556109726|CACCCCATGCCGAGTGCTCAG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|74047418|880502|false|false|0|true|0|false|0.999038_%2C_0.000961605|false|false|false|SNV|true|0x050100000a05040536000100|1|false|130|rs74047418|] +1 880922 exm246 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|880922|880922|MISSENSE||SNP|C|C|T|g.chr1:880922C>T|ENST00000327044.6|-|17|2079|c.2029G>A|c.(2029-2031)Gac>Aac|p.D677N|0.6184538653366584|CCCTCGGTGTCGTCCTCTTCA||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9998_%2C_._%2C_._%2C_0.0001997|false|false|0||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|true|false|true|false|false|false|false|false|false|false|true|187444884|880922|false|false|0|false|0|false|0.999897_%2C_._%2C_._%2C_0.000103029|false|false|false|SNV|true|0x050000000a05040436000104|1|false|135|rs187444884|] +1 880942 exm248 A G . PASS FUNCOTATION=[NOC2L|hg19|chr1|880942|880942|MISSENSE||SNP|A|A|G|g.chr1:880942A>G|ENST00000327044.6|-|17|2059|c.2009T>C|c.(2008-2010)cTg>cCg|p.L670P|0.6184538653366584|AGAGCTGTTCAGGTCAAAGAG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9986_%2C_0.001398|false|false|1||false|false|false|NOC2L:26155|true|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|112163984|880942|false|false|0|true|0|false|0.999416_%2C_0.000583831|false|false|false|SNV|true|0x050100000a05040526000100|1|false|132|rs112163984|] +1 880943 exm249 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|880943|880943|SILENT||SNP|G|G|A|g.chr1:880943G>A|ENST00000327044.6|-|17|2058|c.2008C>T|c.(2008-2010)Ctg>Ttg|p.L670L|0.6159600997506235|GAGCTGTTCAGGTCAAAGAGG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9988_%2C_0.001198_%2C_.|false|false|1||false|false|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|113650656|880943|false|false|0|true|0|true|0.998489_%2C_0.00144241_%2C_6.8686e-005|false|false|false|SNV|true|0x050100000b05040536000100|1|false|132|rs113650656|] +1 881554 exm255 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|881554|881554|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:881554C>T|ENST00000327044.6|-|16|1966|c.1916G>A|c.(1915-1917)cGg>cAg|p.R639Q|0.628428927680798|GAGCCGCACCCGCTCTTTGCC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147322750|881554|false|false|0|false|0|false|0.999725_%2C_0.000274744|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs147322750|] +1 881554 exm255 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|881554|881554|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:881554C>T|ENST00000327044.6|-|16|1966|c.1916G>A|c.(1915-1917)cGg>cAg|p.R639Q|0.628428927680798|GAGCCGCACCCGCTCTTTGCC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147322750|881554|false|false|0|false|0|false|0.999725_%2C_0.000274744|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs147322750|] +1 881627 exm2253575 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|881627|881627|SILENT||SNP|G|G|A|g.chr1:881627G>A|ENST00000327044.6|-|16|1893|c.1843C>T|c.(1843-1845)Ctg>Ttg|p.L615L|0.6408977556109726|TACAAGGTCAGGGGTGTCCCC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.5581_%2C_0.4419|false|false|1||false|true|true|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|2272757|881627|true|false|0|true|0|true|0.601312_%2C_0.398688|false|false|false|SNV|true|0x050100000305170536000100|1|false|100|rs2272757|] +1 881784 exm2233921 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|881784|881784|MISSENSE||SNP|C|C|T|g.chr1:881784C>T|ENST00000327044.6|-|15|1851|c.1801G>A|c.(1801-1803)Gtg>Atg|p.V601M|0.6408977556109726|CCACTAACCACTGCCTGCTGC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199697037|881784|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs199697037|] +1 881825 exm1917942 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|881825|881825|MISSENSE||SNP|C|C|T|g.chr1:881825C>T|ENST00000327044.6|-|15|1810|c.1760G>A|c.(1759-1761)cGc>cAc|p.R587H|0.6433915211970075|CCTCTGGCGGCGGCTGCAGAT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|143216532|881825|false|false|0|false|0|false|0.99976_%2C_0.000240401|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs143216532|] +1 881894 exm268 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|881894|881894|MISSENSE||SNP|G|G|A|g.chr1:881894G>A|ENST00000327044.6|-|15|1741|c.1691C>T|c.(1690-1692)gCc>gTc|p.A564V|0.6334164588528678|GCAGTAGTTGGCCACCTTGCA||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200220074|881894|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs200220074|] +1 881918 exm269 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|881918|881918|MISSENSE||SNP|G|G|A|g.chr1:881918G>A|ENST00000327044.6|-|15|1717|c.1667C>T|c.(1666-1668)tCg>tTg|p.S556L|0.6309226932668329|CCGGAGGAACGACTTCAGCTG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9706_%2C_0.02935|false|false|1||false|true|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|35471880|881918|true|false|0|true|0|false|0.961605_%2C_0.0383955|false|false|false|SNV|true|0x050100000a05150536000100|1|false|126|rs35471880|] +1 883899 exm284 T G . PASS FUNCOTATION=[NOC2L|hg19|chr1|883899|883899|MISSENSE||SNP|T|T|G|g.chr1:883899T>G|ENST00000327044.6|-|13|1578|c.1528A>C|c.(1528-1530)Aat>Cat|p.N510H|0.6508728179551122|AGGTTGACATTGGACAGCTTC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|72631890|883899|false|false|0|false|0|false|0.999794_%2C_0.000206058|false|false|false|SNV|true|0x050000000a05040436000100|1|false|131|rs72631890|] +1 883947 exm289 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|883947|883947|MISSENSE||SNP|G|G|A|g.chr1:883947G>A|ENST00000327044.6|-|13|1530|c.1480C>T|c.(1480-1482)Cgc>Tgc|p.R494C|0.6384039900249376|GAGCTCATGCGCCCTGGCTTC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199834703|883947|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs199834703|] +1 887521 variant.16 T C . PASS FUNCOTATION=[NOC2L|hg19|chr1|887521|887521|SPLICE_SITE|INTRON|SNP|T|T|C|g.chr1:887521T>C|ENST00000327044.6|-|||c.e11+2A>G|c.e11-2||0.6059850374064838|GTATGTTTCCTGGTCAGAGAG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|true||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|377598297|887521|false|false|0|false|0|false||false|false|false|SNV|false|0x050000200005000402000100|1|false|138|rs377598297|] +1 887521 variant.16 T C . PASS FUNCOTATION=[NOC2L|hg19|chr1|887521|887521|SPLICE_SITE|INTRON|SNP|T|T|C|g.chr1:887521T>C|ENST00000327044.6|-|||c.e11+2A>G|c.e11-2||0.6059850374064838|GTATGTTTCCTGGTCAGAGAG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|true||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|377598297|887521|false|false|0|false|0|false||false|false|false|SNV|false|0x050000200005000402000100|1|false|138|rs377598297|] +1 887799 exm314 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|887799|887799|MISSENSE||SNP|C|C|T|g.chr1:887799C>T|ENST00000327044.6|-|10|1234|c.1184G>A|c.(1183-1185)cGc>cAc|p.R395H|0.6309226932668329|CACCTTCTTGCGAGTGGTCAT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9992_%2C_._%2C_0.0007987|false|false|0||false|false|false|NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|141541533|887799|false|false|0|false|0|false|0.998558_%2C_._%2C_0.00144241|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs141541533|] +1 887812 exm1918034 C A . PASS FUNCOTATION=[NOC2L|hg19|chr1|887812|887812|MISSENSE||SNP|C|C|A|g.chr1:887812C>A|ENST00000327044.6|-|10|1221|c.1171G>T|c.(1171-1173)Gcc>Tcc|p.A391S|0.6433915211970075|GTGGTCATGGCGTTGCGCAGG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|142181102|887812|false|false|0|false|0|false|0.999966_%2C_3.4343e-005_%2C_.|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs142181102|] +1 887874 exm323 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|887874|887874|MISSENSE||SNP|G|G|A|g.chr1:887874G>A|ENST00000327044.6|-|10|1159|c.1109C>T|c.(1108-1110)cCg>cTg|p.P370L|0.6483790523690773|GGCCACACCCGGCTCCAGGGC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200380211|887874|false|false|0|false|0|false|0.999073_%2C_0.000927261|false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs200380211|] +1 887967 exm328 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|887967|887967|MISSENSE||SNP|G|G|A|g.chr1:887967G>A|ENST00000327044.6|-|10|1066|c.1016C>T|c.(1015-1017)aCg>aTg|p.T339M|0.6384039900249376|CCTCACATACGTGATGTACAT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199569261|887967|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs199569261|] +1 888563 exm332 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|888563|888563|MISSENSE||SNP|C|C|T|g.chr1:888563C>T|ENST00000327044.6|-|9|1044|c.994G>A|c.(994-996)Gtc>Atc|p.V332I|0.6309226932668329|ACCTTGAGGACGGGGCCAAGG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|150127608|888563|false|false|0|false|0|false|0.99739_%2C_0.00261007|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs150127608|] +1 888659 exm340 T C . PASS FUNCOTATION=[NOC2L|hg19|chr1|888659|888659|MISSENSE||SNP|T|T|C|g.chr1:888659T>C|ENST00000327044.6|-|9|948|c.898A>G|c.(898-900)Atc>Gtc|p.I300V|0.6084788029925187|CTCCATACGATCACCATTCTC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.07728_%2C_0.9227|false|false|1||false|true|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|3748597|888659|false|false|0|true|0|false|0.0672093_%2C_0.932791|false|false|false|SNV|true|0x050100000a0515053f000100|1|false|107|rs3748597|] +1 889238 exm348 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|889238|889238|MISSENSE||SNP|G|G|A|g.chr1:889238G>A|ENST00000327044.6|-|8|862|c.812C>T|c.(811-813)gCg>gTg|p.A271V|0.6384039900249376|CAGCACGGCCGCCAACACCGT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9435_%2C_0.05651_%2C_.|false|false|1||false|true|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|3828049|889238|false|false|0|true|0|false|0.963081_%2C_0.0369187_%2C_.|false|false|false|SNV|true|0x050100000a05150536000100|1|false|107|rs3828049|] +1 889387 exm352 T C . PASS FUNCOTATION=[NOC2L|hg19|chr1|889387|889387|MISSENSE||SNP|T|T|C|g.chr1:889387T>C|ENST00000327044.6|-|7|824|c.774A>G|c.(772-774)atA>atG|p.I258M|0.6458852867830424|ATAGCACCTGTATGGCCGAGC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200405190|889387|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs200405190|] +1 889403 exm355 T A . PASS FUNCOTATION=[NOC2L|hg19|chr1|889403|889403|MISSENSE||SNP|T|T|A|g.chr1:889403T>A|ENST00000327044.6|-|7|808|c.758A>T|c.(757-759)tAc>tTc|p.Y253F|0.6359102244389028|CGAGCCCAGGTAAGCCTTGAT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9942_%2C_0.005791|false|false|1||false|false|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|62639963|889403|false|false|0|false|0|false|0.993269_%2C_0.00673123|false|false|false|SNV|true|0x050000000a05040536000100|1|false|129|rs62639963|] +1 891309 exm360 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|891309|891309|MISSENSE||SNP|C|C|T|g.chr1:891309C>T|ENST00000327044.6|-|6|742|c.692G>A|c.(691-693)aGc>aAc|p.S231N|0.5960099750623441|TTACCTGCTGCTATCCTTTGC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|148852075|891309|false|false|0|false|0|false|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs148852075|] +1 891358 exm369 G T . PASS FUNCOTATION=[NOC2L|hg19|chr1|891358|891358|MISSENSE||SNP|G|G|T|g.chr1:891358G>T|ENST00000327044.6|-|6|693|c.643C>A|c.(643-645)Ctc>Atc|p.L215I|0.5910224438902744|CAGCCAATGAGGTCTCTGATG|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9994_%2C_._%2C_0.000599|false|false|0||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147225789|891358|false|false|0|true|0|false|0.999107_%2C_6.8686e-005_%2C_0.000824232|false|false|false|SNV|true|0x050100000a05040436000100|1|false|134|rs147225789|] +1 891384 exm371 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891384|891384|MISSENSE||SNP|G|G|A|g.chr1:891384G>A|ENST00000327044.6|-|6|667|c.617C>T|c.(616-618)gCt>gTt|p.A206V|0.57356608478803|GGTAACCAGAGCATTGAATGC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|139726958|891384|false|false|0|false|0|false|0.99976_%2C_0.000240401|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs139726958|] +1 891393 exm372 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891393|891393|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:891393G>A|ENST00000327044.6|-|6|658|c.608C>T|c.(607-609)gCa>gTa|p.A203V|0.5785536159600998|AGCATTGAATGCTGCAACGAA|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|113620763|891393|false|false|0|true|0|false|0.998523_%2C_0.00147675|false|false|false|SNV|true|0x050100000a05040536000100|1|false|132|rs113620763|] +1 891393 exm372 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891393|891393|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:891393G>A|ENST00000327044.6|-|6|658|c.608C>T|c.(607-609)gCa>gTa|p.A203V|0.5785536159600998|AGCATTGAATGCTGCAACGAA|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|113620763|891393|false|false|0|true|0|false|0.998523_%2C_0.00147675|false|false|false|SNV|true|0x050100000a05040536000100|1|false|132|rs113620763|] +1 891591 exm382 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|891591|891591|MISSENSE||SNP|C|C|T|g.chr1:891591C>T|ENST00000327044.6|-|5|541|c.491G>A|c.(490-492)cGc>cAc|p.R164H|0.571072319201995|TGGAGTGAGGCGTTGCTGAAG|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|138672231|891591|false|false|0|false|0|false|0.999244_%2C_0.000755546|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs138672231|] +1 891592 exm383 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891592|891592|MISSENSE||SNP|G|G|A|g.chr1:891592G>A|ENST00000327044.6|-|5|540|c.490C>T|c.(490-492)Cgc>Tgc|p.R164C|0.57356608478803|GGAGTGAGGCGTTGCTGAAGG|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200815419|891592|false|false|0|false|0|false|0.999588_%2C_0.000412116|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs200815419|] +1 892380 exm395 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|892380|892380|MISSENSE||SNP|G|G|A|g.chr1:892380G>A|ENST00000327044.6|-|4|430|c.380C>T|c.(379-381)gCg>gTg|p.A127V|0.6059850374064838|TCCTTCCTCCGCTCCATCCTC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|150615968|892380|false|false|0|false|0|false|0.997424_%2C_0.00257573|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs150615968|] +1 892388 exm396 C G . PASS FUNCOTATION=[NOC2L|hg19|chr1|892388|892388|MISSENSE||SNP|C|C|G|g.chr1:892388C>G|ENST00000327044.6|-|4|422|c.372G>C|c.(370-372)gaG>gaC|p.E124D|0.5985037406483791|CCGCTCCATCCTCCTCCTCAC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149856680|892388|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs149856680|] +1 892648 exm1918242 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|892648|892648|MISSENSE||SNP|C|C|T|g.chr1:892648C>T|ENST00000327044.6|-|3|235|c.185G>A|c.(184-186)cGt>cAt|p.R62H|0.5785536159600998|ACGGCCTTTACGCCGGCTGAG|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|185378741|892648|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000000a05040436000100|1|false|135|rs185378741|] +1 894315 exm410 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|894315|894315|MISSENSE||SNP|G|G|A|g.chr1:894315G>A|ENST00000327044.6|-|2|223|c.173C>T|c.(172-174)tCg>tTg|p.S58L|0.6334164588528678|TAACCTGGCCGAGGGGCTCCC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|KLHL17:339451_%7C_NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|201512962|894315|false|false|0|false|0|false||false|false|false|SNV|true|0x050000020a05040426000100|1|false|137|rs201512962|] +1 894330 exm411 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|894330|894330|MISSENSE||SNP|G|G|A|g.chr1:894330G>A|ENST00000327044.6|-|2|208|c.158C>T|c.(157-159)cCg>cTg|p.P53L|0.6359102244389028|GCTCCCGCCCGGCTTATCCGG|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|KLHL17:339451_%7C_NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|144217019|894330|false|false|0|false|0|false|0.999382_%2C_0.000618174|false|false|false|SNV|true|0x050000020a05040402000100|1|false|134|rs144217019|] +1 894573 exm2264981 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|894573|894573|INTRON||SNP|G|G|A|g.chr1:894573G>A|ENST00000327044.6|-|||c.e1-22C>T|||0.6932668329177057|AGGCCAAATCGGCCCTCGGAC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.3656_%2C_0.6344|false|false|1||false|true|true|KLHL17:339451_%7C_NOC2L:26155|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|13303010|894573|false|false|0|true|0|false|0.400467_%2C_0.599533|false|false|false|SNV|true|0x0501000a000517053f000100|1|false|121|rs13303010|] +1 894610 exm425 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|894610|894610|MISSENSE||SNP|G|G|A|g.chr1:894610G>A|ENST00000327044.6|-|1|61|c.11C>T|c.(10-12)gCg>gTg|p.A4V|0.71571072319202|GCGGCTCCCCGCAGCTGCCAT|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|KLHL17:339451_%7C_NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|140357200|894610|false|false|0|false|0|false|0.999691_%2C_0.000309087|false|false|false|SNV|true|0x050000020a05040426000100|1|false|134|rs140357200|] +1 897009 exm447 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|897009|897009|SPLICE_SITE|MISSENSE|SNP|A|A|G|g.chr1:897009A>G|ENST00000338591.3|+|3|475|c.368A>G|c.(367-369)aAt>aGt|p.N123S|0.6633416458852868|GTCCCCGCAGATGAGATGAGC|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|138690517|897009|false|false|0|false|0|false|0.999451_%2C_0.000549488|false|false|false|SNV|true|0x050000020a05040436000100|1|false|134|rs138690517|] +1 897009 exm447 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|897009|897009|SPLICE_SITE|MISSENSE|SNP|A|A|G|g.chr1:897009A>G|ENST00000338591.3|+|3|475|c.368A>G|c.(367-369)aAt>aGt|p.N123S|0.6633416458852868|GTCCCCGCAGATGAGATGAGC|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|138690517|897009|false|false|0|false|0|false|0.999451_%2C_0.000549488|false|false|false|SNV|true|0x050000020a05040436000100|1|false|134|rs138690517|] +1 897285 exm464 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|897285|897285|MISSENSE||SNP|A|A|G|g.chr1:897285A>G|ENST00000338591.3|+|4|676|c.569A>G|c.(568-570)gAc>gGc|p.D190G|0.6458852867830424|AGTCAGCTCGACCCCTCCAAC|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|149866042|897285|false|false|0|false|0|false||false|false|false|SNV|true|0x050000020a05040402000100|1|false|137|rs149866042|] +1 897849 exm493 C T . PASS FUNCOTATION=[KLHL17|hg19|chr1|897849|897849|MISSENSE||SNP|C|C|T|g.chr1:897849C>T|ENST00000338591.3|+|5|933|c.826C>T|c.(826-828)Cgg>Tgg|p.R276W|0.6533665835411472|GCATGTCCCACGGGTGAGGCG|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146903778|897849|false|false|0|true|0|true|0.999622_%2C_0.000377773|false|false|false|SNV|true|0x050100000b05040402000100|1|false|134|rs146903778|] +1 898153 exm503 C A . PASS FUNCOTATION=[KLHL17|hg19|chr1|898153|898153|MISSENSE||SNP|C|C|A|g.chr1:898153C>A|ENST00000338591.3|+|6|1005|c.898C>A|c.(898-900)Ctg>Atg|p.L300M|0.6633416458852868|TGCCGAGAGCCTGGTGAGGCA|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.9986_%2C_0.001398_%2C_.|false|false|1||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147703918|898153|false|false|0|false|0|false|0.998695_%2C_0.00130503_%2C_.|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs147703918|] +1 898247 exm513 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|898247|898247|MISSENSE||SNP|G|G|A|g.chr1:898247G>A|ENST00000338591.3|+|6|1099|c.992G>A|c.(991-993)cGc>cAc|p.R331H|0.6783042394014963|GGCACCAGCCGCACACGTCCC|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146171900|898247|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000a05040402000100|1|false|134|rs146171900|] +1 898542 exm534 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|898542|898542|MISSENSE||SNP|A|A|G|g.chr1:898542A>G|ENST00000338591.3|+|7|1203|c.1096A>G|c.(1096-1098)Acc>Gcc|p.T366A|0.6807980049875312|CGACACGCGCACCGACCGCTG|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|186429850|898542|false|true|0|false|0|false|0.999897_%2C_0.000103029|false|false|false|SNV|true|0x050200000a05040436000100|1|false|135|rs186429850|] +1 898782 exm545 C T . PASS FUNCOTATION=[KLHL17|hg19|chr1|898782|898782|MISSENSE||SNP|C|C|T|g.chr1:898782C>T|ENST00000338591.3|+|8|1360|c.1253C>T|c.(1252-1254)cCg>cTg|p.P418L|0.6259351620947631|ACGTGGCAGCCGGAGGTGTCC|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200489647|898782|false|true|0|true|0|false|0.99976_%2C_._%2C_0.000240401|false|false|false|SNV|true|0x050300000a05040402000100|1|false|137|rs200489647|] +1 898787 exm546 G T . PASS FUNCOTATION=[KLHL17|hg19|chr1|898787|898787|MISSENSE||SNP|G|G|T|g.chr1:898787G>T|ENST00000338591.3|+|8|1365|c.1258G>T|c.(1258-1260)Gtg>Ttg|p.V420L|0.6209476309226932|GCAGCCGGAGGTGTCCATGGG|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|143920987|898787|false|true|0|false|0|false|0.999485_%2C_0.000515145|false|false|false|SNV|true|0x050200000a05040436000100|1|false|134|rs143920987|] +1 898869 exm554 C T . PASS FUNCOTATION=[KLHL17|hg19|chr1|898869|898869|MISSENSE||SNP|C|C|T|g.chr1:898869C>T|ENST00000338591.3|+|8|1447|c.1340C>T|c.(1339-1341)gCc>gTc|p.A447V|0.6084788029925187|TATGACGGGGCCTCCTGCCTG|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|138106672|898869|false|true|0|false|0|false|0.999897_%2C_0.000103036|false|false|false|SNV|true|0x050200000a05040402000100|1|false|134|rs138106672|] +1 899489 exm564 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|899489|899489|MISSENSE||SNP|G|G|A|g.chr1:899489G>A|ENST00000338591.3|+|10|1554|c.1447G>A|c.(1447-1449)Ggg>Agg|p.G483R|0.6733167082294265|TCCGGCAGATGGGAACCTGTA|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200468119|899489|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000a05040402000100|1|false|137|rs200468119|] +1 899537 exm570 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|899537|899537|MISSENSE||SNP|A|A|G|g.chr1:899537A>G|ENST00000338591.3|+|10|1602|c.1495A>G|c.(1495-1497)Act>Gct|p.T499A|0.6807980049875312|ACACCTGGCCACTGTGGAGAA|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|192525640|899537|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000a05040436000100|1|false|135|rs192525640|] +1 899789 exm580 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|899789|899789|MISSENSE||SNP|G|G|A|g.chr1:899789G>A|ENST00000338591.3|+|11|1686|c.1579G>A|c.(1579-1581)Gtg>Atg|p.V527M|0.7082294264339152|GGGCGTGGCCGTGCTGGAGGG|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199893924|899789|false|true|0|false|0|false|0.999485_%2C_0.000515145|false|false|false|SNV|true|0x050200000a05040436000100|1|false|137|rs199893924|] +1 900383 chr1_900383 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|900383|900383|MISSENSE||SNP|G|G|A|g.chr1:900383G>A|ENST00000338591.3|+|12|1848|c.1741G>A|c.(1741-1743)Gcc>Acc|p.A581T|0.6608478802992519|ATGGTTGTACGCCGTGGGGGG|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false||false|false|||false|false|false|PLEKHN1:84069_%7C_KLHL17:339451|false|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|749868050|900383|false|false|0|false|0|false||false|false|false|SNV|true|0x050000020a05040002000100|1|false|144|rs749868050|] +1 900427 exm2253593 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|900427|900427|SILENT||SNP|G|G|A|g.chr1:900427G>A|ENST00000338591.3|+|12|1892|c.1785G>A|c.(1783-1785)gaG>gaA|p.E595E|0.6508728179551122|ACTCCATCGAGAAGTACAACC|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.9649_%2C_0.03514|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|115741058|900427|false|true|0|true|0|true|0.949413_%2C_0.0505873|false|false|false|SNV|true|0x05030002030515043e000100|1|false|132|rs115741058|] +1 900427 exm596 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|900427|900427|SILENT||SNP|G|G|A|g.chr1:900427G>A|ENST00000338591.3|+|12|1892|c.1785G>A|c.(1783-1785)gaG>gaA|p.E595E|0.6508728179551122|ACTCCATCGAGAAGTACAACC|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.9649_%2C_0.03514|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|115741058|900427|false|true|0|true|0|true|0.949413_%2C_0.0505873|false|false|false|SNV|true|0x05030002030515043e000100|1|false|132|rs115741058|] +1 900519 exm603 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|900519|900519|MISSENSE||SNP|A|A|G|g.chr1:900519A>G|ENST00000338591.3|+|12|1984|c.1877A>G|c.(1876-1878)aAt>aGt|p.N626S|0.5960099750623441|GAGCTGCTCAATTTCCCGCCG|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false||false|false|||false|false|false|PLEKHN1:84069_%7C_KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|140019196|900519|false|false|0|false|0|false|0.999657_%2C_0.000343454|false|false|false|SNV|true|0x050000020a05040402000100|1|false|134|rs140019196|] +1 900560 exm611 A C . PASS FUNCOTATION=[KLHL17|hg19|chr1|900560|900560|MISSENSE||SNP|A|A|C|g.chr1:900560A>C|ENST00000338591.3|+|12|2025|c.1918A>C|c.(1918-1920)Acc>Ccc|p.T640P|0.5760598503740648|CGTGTCCTCCACCAGCCTCTG|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false||false|false|||false|false|false|PLEKHN1:84069_%7C_KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|188543688|900560|false|false|0|false|0|false||false|false|false|SNV|true|0x050000020a05040402000100|1|false|135|rs188543688|] +1 901922 exm1918827 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|901922|901922|MISSENSE||SNP|G|G|A|g.chr1:901922G>A|ENST00000379410.3|+|1|46|c.11G>A|c.(10-12)aGc>aAc|p.S4N|0.7231920199501247|ATGGGGAACAGCCACTGTGTC|PLEKHN1_ENST00000379407.3_MISSENSE_p.S4N/PLEKHN1_ENST00000379409.2_MISSENSE_p.S4N|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9882_%2C_0.01058_%2C_0.001198|false|false|1||false|false|false|PLEKHN1:84069|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|62639980|901922|false|false|0|true|0|false|0.98221_%2C_0.0158321_%2C_0.00195755|false|false|false|SNV|true|0x050100000a05140536000100|1|false|129|rs62639980|] +1 901923 exm615 C A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|901923|901923|MISSENSE||SNP|C|C|A|g.chr1:901923C>A|ENST00000379410.3|+|1|47|c.12C>A|c.(10-12)agC>agA|p.S4R|0.7256857855361596|TGGGGAACAGCCACTGTGTCC|PLEKHN1_ENST00000379407.3_MISSENSE_p.S4R/PLEKHN1_ENST00000379409.2_MISSENSE_p.S4R|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9894_%2C_0.01058|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149741186|901923|false|false|0|true|0|false|0.984168_%2C_0.0158321|false|false|false|SNV|true|0x050100000a05140436000100|1|false|134|rs149741186|] +1 902088 exm624 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|902088|902088|MISSENSE||SNP|G|G|A|g.chr1:902088G>A|ENST00000379410.3|+|2|123|c.88G>A|c.(88-90)Gac>Aac|p.D30N|0.71571072319202|CCCCAGAGAGGACAGCGCGCG|PLEKHN1_ENST00000379407.3_MISSENSE_p.D30N/PLEKHN1_ENST00000379409.2_MISSENSE_p.D30N|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201730138|902088|false|false|0|false|0|false|0.999622_%2C_0.000377773|false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs201730138|] +1 902128 exm628 C T . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|902128|902128|MISSENSE||SNP|C|C|T|g.chr1:902128C>T|ENST00000379410.3|+|2|163|c.128C>T|c.(127-129)gCt>gTt|p.A43V|0.7231920199501247|GGCCCCGAGGCTGCTCGAAGC|PLEKHN1_ENST00000379407.3_MISSENSE_p.A43V/PLEKHN1_ENST00000379409.2_MISSENSE_p.A43V|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9439_%2C_0.05611|false|false|1||false|true|false|PLEKHN1:84069|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|28499371|902128|false|false|0|true|0|false|0.971221_%2C_0.0287794|false|false|false|SNV|true|0x050100000a05150537000100|1|false|125|rs28499371|] +1 902133 exm629 C G . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|902133|902133|MISSENSE||SNP|C|C|G|g.chr1:902133C>G|ENST00000379410.3|+|2|168|c.133C>G|c.(133-135)Cga>Gga|p.R45G|0.7256857855361596|CGAGGCTGCTCGAAGCGGGGA|PLEKHN1_ENST00000379407.3_MISSENSE_p.R45G/PLEKHN1_ENST00000379409.2_MISSENSE_p.R45G|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|false|false|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|202165740|902133|false|false|0|false|0|false|0.999931_%2C_6.8686e-005_%2C_.|false|false|false|SNV|true|0x050000000e05040402000100|1|false|137|rs202165740|] +1 902176 exm635 C T . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|902176|902176|MISSENSE||SNP|C|C|T|g.chr1:902176C>T|ENST00000379410.3|+|2|211|c.176C>T|c.(175-177)cCg>cTg|p.P59L|0.7206982543640897|CACTACATCCCGGGCACGGTG|PLEKHN1_ENST00000379407.3_MISSENSE_p.P59L/PLEKHN1_ENST00000379409.2_MISSENSE_p.P59L|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200379767|902176|false|false|0|false|0|false|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs200379767|] +1 904165 rs28391282 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|904165|904165|INTRON||SNP|G|G|A|g.chr1:904165G>A|ENST00000379410.3|+|||c.e3-1492G>A|||0.57356608478803|TAAGGAGGGGGGTCAGGACTG|PLEKHN1_ENST00000379407.3_INTRON/PLEKHN1_ENST00000379409.2_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.8982_%2C_0.1018|false|false|1||false|true|false|PLEKHN1:84069|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28391282|904165|false|false|0|true|0|false|0.908098_%2C_0.0919019|false|false|false|SNV|true|0x05010008000515053f000100|1|false|125|rs28391282|] +1 905669 exm636 C G . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|905669|905669|MISSENSE||SNP|C|C|G|g.chr1:905669C>G|ENST00000379410.3|+|3|231|c.196C>G|c.(196-198)Ctg>Gtg|p.L66V|0.6109725685785536|CATCCTGGACCTGGAGAACCA|PLEKHN1_ENST00000379407.3_MISSENSE_p.L66V/PLEKHN1_ENST00000379409.2_MISSENSE_p.L66V|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9992_%2C_0.0007987_%2C_.|false|false|0||false|false|false|PLEKHN1:84069|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|111483874|905669|false|false|0|true|0|true|0.998145_%2C_0.00185452_%2C_.|false|false|false|SNV|true|0x050100000b05040536000100|1|false|132|rs111483874|] +1 905723 exm638 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|905723|905723|MISSENSE||SNP|G|G|A|g.chr1:905723G>A|ENST00000379410.3|+|3|285|c.250G>A|c.(250-252)Ggg>Agg|p.G84R|0.6259351620947631|GTTCAAGAAGGGGCGGCGGAG|PLEKHN1_ENST00000379407.3_MISSENSE_p.G84R/PLEKHN1_ENST00000379409.2_MISSENSE_p.G84R|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|150703609|905723|false|false|0|false|0|false|0.999691_%2C_0.000309087|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs150703609|] +1 905729 exm639 C T . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|905729|905729|MISSENSE||SNP|C|C|T|g.chr1:905729C>T|ENST00000379410.3|+|3|291|c.256C>T|c.(256-258)Cgg>Tgg|p.R86W|0.6184538653366584|GAAGGGGCGGCGGAGGGTGCC|PLEKHN1_ENST00000379407.3_MISSENSE_p.R86W/PLEKHN1_ENST00000379409.2_MISSENSE_p.R86W|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199982229|905729|false|false|0|false|0|false|0.999897_%2C_0.000103029|false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs199982229|] +1 905901 exm648 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|905901|905901|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:905901G>A|ENST00000379410.3|+|4|366|c.331G>A|c.(331-333)Gat>Aat|p.D111N|0.6458852867830424|CCCCGCGCAGGATGTCAGCGA|PLEKHN1_ENST00000379407.3_SPLICE_SITE_p.D111N/PLEKHN1_ENST00000379409.2_SPLICE_SITE_p.D111N|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200191592|905901|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040416000100|1|false|137|rs200191592|] +1 905901 exm648 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|905901|905901|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:905901G>A|ENST00000379410.3|+|4|366|c.331G>A|c.(331-333)Gat>Aat|p.D111N|0.6458852867830424|CCCCGCGCAGGATGTCAGCGA|PLEKHN1_ENST00000379407.3_SPLICE_SITE_p.D111N/PLEKHN1_ENST00000379409.2_SPLICE_SITE_p.D111N|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200191592|905901|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040416000100|1|false|137|rs200191592|] +1 906067 exm656 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906067|906067|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:906067G>A|ENST00000379410.3|+|5|448|c.413G>A|c.(412-414)gGg>gAg|p.G138E|0.6583541147132169|GCCTGGCAGGGGCTGTTACCG|PLEKHN1_ENST00000379407.3_SPLICE_SITE_p.G138E/PLEKHN1_ENST00000379409.2_SPLICE_SITE_p.G138E|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199749406|906067|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs199749406|] +1 906067 exm656 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906067|906067|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:906067G>A|ENST00000379410.3|+|5|448|c.413G>A|c.(412-414)gGg>gAg|p.G138E|0.6583541147132169|GCCTGGCAGGGGCTGTTACCG|PLEKHN1_ENST00000379407.3_SPLICE_SITE_p.G138E/PLEKHN1_ENST00000379409.2_SPLICE_SITE_p.G138E|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199749406|906067|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs199749406|] +1 906100 exm662 C T . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906100|906100|MISSENSE||SNP|C|C|T|g.chr1:906100C>T|ENST00000379410.3|+|5|481|c.446C>T|c.(445-447)cCg>cTg|p.P149L|0.6658354114713217|AGTGTCTGCCCGCTCGAGGGG|PLEKHN1_ENST00000379407.3_MISSENSE_p.P149L/PLEKHN1_ENST00000379409.2_MISSENSE_p.P149L|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144236796|906100|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs144236796|] +1 906132 exm668 A G . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906132|906132|MISSENSE||SNP|A|A|G|g.chr1:906132A>G|ENST00000379410.3|+|5|513|c.478A>G|c.(478-480)Atc>Gtc|p.I160V|0.6733167082294265|CGCCTTCCAGATCACAGGTGT|PLEKHN1_ENST00000379407.3_MISSENSE_p.I160V/PLEKHN1_ENST00000379409.2_MISSENSE_p.I160V|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147501349|906132|false|false|0|false|0|false|0.99976_%2C_0.000240401|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs147501349|] +1 906298 exm674 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906298|906298|MISSENSE||SNP|G|G|A|g.chr1:906298G>A|ENST00000379410.3|+|6|559|c.524G>A|c.(523-525)cGg>cAg|p.R175Q|0.7032418952618454|TGCCCCAGCCGGGCCGAGCTG|PLEKHN1_ENST00000379407.3_MISSENSE_p.R175Q/PLEKHN1_ENST00000379409.2_MISSENSE_p.R215Q|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199870272|906298|false|false|0|false|0|false|0.999451_%2C_0.000549488|false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs199870272|] +1 906472 exm1918903 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906472|906472|INTRON||SNP|G|G|A|g.chr1:906472G>A|ENST00000379410.3|+|||c.e7-21G>A|||0.7082294264339152|CTGCGGAGACGAACTCCCCTG|PLEKHN1_ENST00000379407.3_MISSENSE_p.E210K/PLEKHN1_ENST00000379409.2_MISSENSE_p.E250K|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|PLEKHN1:84069|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201680039|906472|false|false|0|false|0|false|0.999347_%2C_0.000652517|false|false|false|SNV|true|0x050000080a05040436000100|1|false|137|rs201680039|] +1 906494 exm684 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906494|906494|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:906494G>A|ENST00000379410.3|+|7|649|c.614G>A|c.(613-615)cGc>cAc|p.R205H|0.7057356608478803|ACTTTGCAGCGCCGTCTAACC|PLEKHN1_ENST00000379407.3_MISSENSE_p.R217H/PLEKHN1_ENST00000379409.2_MISSENSE_p.R257H|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200703251|906494|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs200703251|] +1 906494 exm684 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906494|906494|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:906494G>A|ENST00000379410.3|+|7|649|c.614G>A|c.(613-615)cGc>cAc|p.R205H|0.7057356608478803|ACTTTGCAGCGCCGTCTAACC|PLEKHN1_ENST00000379407.3_MISSENSE_p.R217H/PLEKHN1_ENST00000379409.2_MISSENSE_p.R257H|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200703251|906494|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs200703251|] +1 906512 exm687 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906512|906512|MISSENSE||SNP|G|G|A|g.chr1:906512G>A|ENST00000379410.3|+|7|667|c.632G>A|c.(631-633)cGg>cAg|p.R211Q|0.7032418952618454|ACCCGGCTGCGGACGGCGTCA|PLEKHN1_ENST00000379407.3_MISSENSE_p.R223Q/PLEKHN1_ENST00000379409.2_MISSENSE_p.R263Q|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9988_%2C_0.001198_%2C_.|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201888830|906512|false|false|0|false|0|false|0.999828_%2C_0.000171715_%2C_.|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs201888830|] +1 906583 exm694 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906583|906583|MISSENSE||SNP|G|G|A|g.chr1:906583G>A|ENST00000379410.3|+|7|738|c.703G>A|c.(703-705)Gca>Aca|p.A235T|0.6733167082294265|GCACCTGCCCGCACAGGTGGG|PLEKHN1_ENST00000379407.3_MISSENSE_p.A247T/PLEKHN1_ENST00000379409.2_MISSENSE_p.A287T|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200886536|906583|false|true|0|false|0|false|0.999554_%2C_0.000446459|false|false|false|SNV|true|0x050200000a05040436000100|1|false|137|rs200886536|] +1 906717 exm697 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906717|906717|MISSENSE||SNP|G|G|A|g.chr1:906717G>A|ENST00000379410.3|+|8|757|c.722G>A|c.(721-723)cGg>cAg|p.R241Q|0.6807980049875312|CAGTGGGACCGGCTCTTGGTC|PLEKHN1_ENST00000379407.3_MISSENSE_p.R253Q/PLEKHN1_ENST00000379409.2_MISSENSE_p.R293Q|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|139460652|906717|false|true|0|false|0|false|0.999657_%2C_0.00034343|false|false|false|SNV|true|0x050200000a05040402000100|1|false|134|rs139460652|] +1 907676 exm714 A T . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|907676|907676|MISSENSE||SNP|A|A|T|g.chr1:907676A>T|ENST00000379410.3|+|10|909|c.874A>T|c.(874-876)Atc>Ttc|p.I292F|0.6708229426433915|AGGCCCCCTCATCAACACCAT|PLEKHN1_ENST00000379407.3_MISSENSE_p.I304F/PLEKHN1_ENST00000379409.2_MISSENSE_p.I344F|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|145042066|907676|false|true|0|false|0|false|0.998077_%2C_0.00192321|false|false|false|SNV|true|0x050200000a05040426000100|1|false|134|rs145042066|] +1 907709 exm717 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|907709|907709|MISSENSE||SNP|G|G|A|g.chr1:907709G>A|ENST00000379410.3|+|10|942|c.907G>A|c.(907-909)Gag>Aag|p.E303K|0.6733167082294265|CGCCAGCTACGAGGACTACGG|PLEKHN1_ENST00000379407.3_MISSENSE_p.E315K/PLEKHN1_ENST00000379409.2_MISSENSE_p.E355K|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false||false|false|||false|false|false|PLEKHN1:84069|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|150711457|907709|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000a05040402000100|1|false|134|rs150711457|] +1 907799 exm725 T C . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|907799|907799|MISSENSE||SNP|T|T|C|g.chr1:907799T>C|ENST00000379410.3|+|10|1032|c.997T>C|c.(997-999)Tcg>Ccg|p.S333P|0.6259351620947631|CTTCCCAGGGTCGCAGGTGAG|PLEKHN1_ENST00000379407.3_MISSENSE_p.S345P/PLEKHN1_ENST00000379409.2_MISSENSE_p.S385P|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9876_%2C_0.01238|false|false|1||false|true|false|PLEKHN1:84069|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|111909377|907799|false|false|0|true|0|false|0.984271_%2C_0.0157291|false|false|false|SNV|true|0x050100000a05150536000100|1|false|132|rs111909377|] +1 908275 exm727 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|908275|908275|MISSENSE||SNP|G|G|A|g.chr1:908275G>A|ENST00000379410.3|+|11|1072|c.1037G>A|c.(1036-1038)gGc>gAc|p.G346D|0.6508728179551122|CTCTCCTCAGGCGGACAGACC|PLEKHN1_ENST00000379407.3_MISSENSE_p.G358D/PLEKHN1_ENST00000379409.2_MISSENSE_p.G398D|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9878_%2C_0.01218|false|false|1||false|true|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|145574509|908275|false|false|0|false|0|false|0.994677_%2C_0.00532317|false|false|false|SNV|true|0x050000000a05150436000100|1|false|134|rs145574509|] +1 908323 exm1918959 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|908323|908323|MISSENSE||SNP|G|G|A|g.chr1:908323G>A|ENST00000379410.3|+|11|1120|c.1085G>A|c.(1084-1086)cGc>cAc|p.R362H|0.6483790523690773|CCCTCCACCCGCACCAGCCAC|PLEKHN1_ENST00000379407.3_MISSENSE_p.R374H/PLEKHN1_ENST00000379409.2_MISSENSE_p.R414H|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9872_%2C_0.01278|false|false|1||false|true|false|PLEKHN1:84069|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|61732689|908323|false|false|0|true|0|false|0.984237_%2C_0.0157634|false|false|false|SNV|true|0x050100000a05150536000100|1|false|129|rs61732689|] +1 908389 exm738 C T . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|908389|908389|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:908389C>T|ENST00000379410.3|+|11|1186|c.1151C>T|c.(1150-1152)cCg>cTg|p.P384L|0.6608478802992519|CAGCACACACCGGTGAGCGCT|PLEKHN1_ENST00000379407.3_SPLICE_SITE_p.P396L/PLEKHN1_ENST00000379409.2_SPLICE_SITE_p.P436L|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.999_%2C_._%2C_0.0009984|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|75748725|908389|false|false|0|true|0|false|0.99715_%2C_._%2C_0.00285047|false|false|false|SNV|true|0x050100000a05040436000100|1|false|131|rs75748725|] +1 908390 exm739 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|908390|908390|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:908390G>A|ENST00000379410.3|+|11|1187|c.1152G>A|c.(1150-1152)ccG>ccA|p.P384P|0.6583541147132169|AGCACACACCGGTGAGCGCTT|PLEKHN1_ENST00000379407.3_SPLICE_SITE_p.P396P/PLEKHN1_ENST00000379409.2_SPLICE_SITE_p.P436P|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9968_%2C_0.003195|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|148169601|908390|false|false|0|false|0|true|0.999897_%2C_0.000103029|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs148169601|] +1 908390 exm739 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|908390|908390|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:908390G>A|ENST00000379410.3|+|11|1187|c.1152G>A|c.(1150-1152)ccG>ccA|p.P384P|0.6583541147132169|AGCACACACCGGTGAGCGCTT|PLEKHN1_ENST00000379407.3_SPLICE_SITE_p.P396P/PLEKHN1_ENST00000379409.2_SPLICE_SITE_p.P436P|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9968_%2C_0.003195|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|148169601|908390|false|false|0|false|0|true|0.999897_%2C_0.000103029|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs148169601|] +1 909320 exm2253598 C T . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|909320|909320|SILENT||SNP|C|C|T|g.chr1:909320C>T|ENST00000379410.3|+|14|1577|c.1542C>T|c.(1540-1542)ccC>ccT|p.P514P|0.6957605985037406|CCTCCGGCCCCGCTGGCCCCT|PLEKHN1_ENST00000379407.3_SILENT_p.P479P/PLEKHN1_ENST00000379409.2_SILENT_p.P566P|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9986_%2C_0.001398|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|144710974|909320|false|false|0|false|0|true|0.998077_%2C_0.00192334|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs144710974|] +1 918573 rs2341354 A G . PASS FUNCOTATION=[C1orf170|hg19|chr1|918573|918573|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:918573A>G|ENST00000341290.2|-||||||0.6408977556109726|CGAACCTCTCACATTTCCAGG|C1orf170_ENST00000433179.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||||||||||||||||||||||||||||||||||PERM1_HUMAN||Q6ZVZ7_%7C_Q9BRF2_%7C_S5G239|Q5SV97|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_response_%20_to_%20_muscle_%20_activity_%20_(GO:0014850)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 928836 rs9777703 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|928836|928836|IGR||SNP|C|C|T|g.chr1:928836C>T|no_transcript|||||||0.5985037406483791|TTCCTAAAGCCGAACTGGAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 932457 rs1891910 G A . PASS FUNCOTATION=[RP11-54O7.17|hg19|chr1|932457|932457|LINCRNA||SNP|G|G|A|g.chr1:932457G>A|ENST00000606034.1|-|||c.e1-974C>T|||0.6408977556109726|CATTCAAAGGGATGGATTAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8684_%2C_0.1316_%2C_.|false|false|1||false|true|false||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|1891910|932457|false|false|0|true|0|false|0.840569_%2C_0.159397_%2C_3.43454e-005|false|false|false|SNV|true|0x05010000000515053f000100|1|false|92|rs1891910|] +1 944564 rs3128117 T C . PASS FUNCOTATION=[ISG15|hg19|chr1|944564|944564|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:944564T>C|ENST00000379389.4|+||||||0.47880299251870323|AGAATACATTTCTGTGGTGTG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M21786|NM_005101.3|NP_005092.1|HGNC:4053|ISG15_%20_ubiquitin-like_%20_modifier|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|G1P2|"interferon_%2C__%20_alpha-inducible_%20_protein_%20_(clone_%20_IFI-15K)"|IFI15_%2C__%20_UCRP||1p36.33|2015-08-25|2006-04-28|2006-04-28|BC009507||9636|ENSG00000187608|3087979|NM_005101|||CCDS6|OTTHUMG00000040777|9636|147571|NM_005101|P05161|ENSG00000187608|uc001acj.5|ISG15_HUMAN||Q5SVA4_%7C_Q7Z2G2_%7C_Q96GF0|P05161|cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_defense_%20_response_%20_to_%20_bacterium_%20_(GO:0042742)_%7C_defense_%20_response_%20_to_%20_virus_%20_(GO:0051607)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_ISG15-protein_%20_conjugation_%20_(GO:0032020)_%7C_modification-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0019941)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032480)_%7C_negative_%20_regulation_%20_of_%20_viral_%20_genome_%20_replication_%20_(GO:0045071)_%7C_positive_%20_regulation_%20_of_%20_erythrocyte_%20_differentiation_%20_(GO:0045648)_%7C_regulation_%20_of_%20_interferon-gamma_%20_production_%20_(GO:0032649)_%7C_response_%20_to_%20_type_%20_I_%20_interferon_%20_(GO:0034340)_%7C_type_%20_I_%20_interferon_%20_signaling_%20_pathway_%20_(GO:0060337)_%7C_viral_%20_process_%20_(GO:0016032)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|protein_%20_tag_%20_(GO:0031386)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 962210 rs3128126 A G . PASS FUNCOTATION=[AGRN|hg19|chr1|962210|962210|INTRON||SNP|A|A|G|g.chr1:962210A>G|ENST00000379370.2|+|||c.e2+4368A>G|||0.6658354114713217|ATATCACCCCATGGACAGTCG||||||||||||||||||||||||||163|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(45)_%7C_kidney(1)_%7C_large_intestine(35)_%7C_lung(2)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(24)|||||||U84406|NM_198576.3|NP_940978.2|HGNC:329|agrin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AGRIN|"agrin_%20_proteoglycan"|||1p36.33|2017-07-07|2007-02-16||XM_372195||375790|ENSG00000188157|1851019_%2C__%20_12270958|NM_198576|570|Proteoglycans|CCDS30551|OTTHUMG00000040778|375790|103320|NM_001305275|O00468|ENSG00000188157|uc001ack.3|AGRIN_HUMAN||Q5SVA1_%7C_Q5SVA2_%7C_Q60FE1_%7C_Q7KYS8_%7C_Q8N4J5_%7C_Q96IC1_%7C_Q9BTD4|O00468|axon_%20_guidance_%20_(GO:0007411)_%7C_carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_clustering_%20_of_%20_voltage-gated_%20_sodium_%20_channels_%20_(GO:0045162)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_glycosaminoglycan_%20_biosynthetic_%20_process_%20_(GO:0006024)_%7C_glycosaminoglycan_%20_catabolic_%20_process_%20_(GO:0006027)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_receptor_%20_metabolic_%20_process_%20_(GO:0045213)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_plasma_%20_membrane_%20_organization_%20_(GO:0007009)_%7C_positive_%20_regulation_%20_of_%20_filopodium_%20_assembly_%20_(GO:0051491)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_growth_%20_at_%20_neuromuscular_%20_junction_%20_(GO:0045887)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synapse_%20_organization_%20_(GO:0050808)|basal_%20_lamina_%20_(GO:0005605)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|acetylcholine_%20_receptor_%20_regulator_%20_activity_%20_(GO:0030548)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_chondroitin_%20_sulfate_%20_binding_%20_(GO:0035374)_%7C_dystroglycan_%20_binding_%20_(GO:0002162)_%7C_heparan_%20_sulfate_%20_proteoglycan_%20_binding_%20_(GO:0043395)_%7C_laminin_%20_binding_%20_(GO:0043236)_%7C_sialic_%20_acid_%20_binding_%20_(GO:0033691)_%7C_structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)||||true|false|0.6945_%2C_0.3055|false|false|1||false|true|true|AGRN:375790|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3128126|962210|false|false|0|true|0|false|0.661481_%2C_0.338519|false|false|false|SNV|true|0x05010008000517053f000100|1|false|103|rs3128126|] +1 980903 exm1107 C T . PASS FUNCOTATION=[AGRN|hg19|chr1|980903|980903|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:980903C>T|ENST00000379370.2|+|14|2586|c.2536C>T|c.(2536-2538)Ccc>Tcc|p.P846S|0.6633416458852868|TGGCTGTACACGTGAGTGACA||||||||||||||||||||||||||163|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(45)_%7C_kidney(1)_%7C_large_intestine(35)_%7C_lung(2)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(24)|||||||U84406|NM_198576.3|NP_940978.2|HGNC:329|agrin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AGRIN|"agrin_%20_proteoglycan"|||1p36.33|2017-07-07|2007-02-16||XM_372195||375790|ENSG00000188157|1851019_%2C__%20_12270958|NM_198576|570|Proteoglycans|CCDS30551|OTTHUMG00000040778|375790|103320|NM_001305275|O00468|ENSG00000188157|uc001ack.3|AGRIN_HUMAN||Q5SVA1_%7C_Q5SVA2_%7C_Q60FE1_%7C_Q7KYS8_%7C_Q8N4J5_%7C_Q96IC1_%7C_Q9BTD4|O00468|axon_%20_guidance_%20_(GO:0007411)_%7C_carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_clustering_%20_of_%20_voltage-gated_%20_sodium_%20_channels_%20_(GO:0045162)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_glycosaminoglycan_%20_biosynthetic_%20_process_%20_(GO:0006024)_%7C_glycosaminoglycan_%20_catabolic_%20_process_%20_(GO:0006027)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_receptor_%20_metabolic_%20_process_%20_(GO:0045213)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_plasma_%20_membrane_%20_organization_%20_(GO:0007009)_%7C_positive_%20_regulation_%20_of_%20_filopodium_%20_assembly_%20_(GO:0051491)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_growth_%20_at_%20_neuromuscular_%20_junction_%20_(GO:0045887)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synapse_%20_organization_%20_(GO:0050808)|basal_%20_lamina_%20_(GO:0005605)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|acetylcholine_%20_receptor_%20_regulator_%20_activity_%20_(GO:0030548)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_chondroitin_%20_sulfate_%20_binding_%20_(GO:0035374)_%7C_dystroglycan_%20_binding_%20_(GO:0002162)_%7C_heparan_%20_sulfate_%20_proteoglycan_%20_binding_%20_(GO:0043395)_%7C_laminin_%20_binding_%20_(GO:0043236)_%7C_sialic_%20_acid_%20_binding_%20_(GO:0033691)_%7C_structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)||||true|false||false|false|||false|false|false|AGRN:375790|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|138248828|980903|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs138248828|] +1 981345 exm1123 C T . PASS FUNCOTATION=[AGRN|hg19|chr1|981345|981345|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:981345C>T|ENST00000379370.2|+|16|2732|c.2682C>T|c.(2680-2682)gaC>gaT|p.D894D|0.6583541147132169|GTGCCCCAGACGCTTCTGCGC||||||||||||||||||||||||||163|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(45)_%7C_kidney(1)_%7C_large_intestine(35)_%7C_lung(2)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(24)|||||||U84406|NM_198576.3|NP_940978.2|HGNC:329|agrin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AGRIN|"agrin_%20_proteoglycan"|||1p36.33|2017-07-07|2007-02-16||XM_372195||375790|ENSG00000188157|1851019_%2C__%20_12270958|NM_198576|570|Proteoglycans|CCDS30551|OTTHUMG00000040778|375790|103320|NM_001305275|O00468|ENSG00000188157|uc001ack.3|AGRIN_HUMAN||Q5SVA1_%7C_Q5SVA2_%7C_Q60FE1_%7C_Q7KYS8_%7C_Q8N4J5_%7C_Q96IC1_%7C_Q9BTD4|O00468|axon_%20_guidance_%20_(GO:0007411)_%7C_carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_clustering_%20_of_%20_voltage-gated_%20_sodium_%20_channels_%20_(GO:0045162)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_glycosaminoglycan_%20_biosynthetic_%20_process_%20_(GO:0006024)_%7C_glycosaminoglycan_%20_catabolic_%20_process_%20_(GO:0006027)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_receptor_%20_metabolic_%20_process_%20_(GO:0045213)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_plasma_%20_membrane_%20_organization_%20_(GO:0007009)_%7C_positive_%20_regulation_%20_of_%20_filopodium_%20_assembly_%20_(GO:0051491)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_growth_%20_at_%20_neuromuscular_%20_junction_%20_(GO:0045887)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synapse_%20_organization_%20_(GO:0050808)|basal_%20_lamina_%20_(GO:0005605)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|acetylcholine_%20_receptor_%20_regulator_%20_activity_%20_(GO:0030548)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_chondroitin_%20_sulfate_%20_binding_%20_(GO:0035374)_%7C_dystroglycan_%20_binding_%20_(GO:0002162)_%7C_heparan_%20_sulfate_%20_proteoglycan_%20_binding_%20_(GO:0043395)_%7C_laminin_%20_binding_%20_(GO:0043236)_%7C_sialic_%20_acid_%20_binding_%20_(GO:0033691)_%7C_structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)||||true|false|0.998_%2C_0.001997|false|false|1||false|false|false|AGRN:375790|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|118105080|981345|false|false|0|true|0|true|0.99976_%2C_0.000240401|false|false|false|SNV|true|0x050128000305040436000100|1|false|132|rs118105080|] +1 981345 exm1123 C T . PASS FUNCOTATION=[AGRN|hg19|chr1|981345|981345|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:981345C>T|ENST00000379370.2|+|16|2732|c.2682C>T|c.(2680-2682)gaC>gaT|p.D894D|0.6583541147132169|GTGCCCCAGACGCTTCTGCGC||||||||||||||||||||||||||163|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(45)_%7C_kidney(1)_%7C_large_intestine(35)_%7C_lung(2)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(24)|||||||U84406|NM_198576.3|NP_940978.2|HGNC:329|agrin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AGRIN|"agrin_%20_proteoglycan"|||1p36.33|2017-07-07|2007-02-16||XM_372195||375790|ENSG00000188157|1851019_%2C__%20_12270958|NM_198576|570|Proteoglycans|CCDS30551|OTTHUMG00000040778|375790|103320|NM_001305275|O00468|ENSG00000188157|uc001ack.3|AGRIN_HUMAN||Q5SVA1_%7C_Q5SVA2_%7C_Q60FE1_%7C_Q7KYS8_%7C_Q8N4J5_%7C_Q96IC1_%7C_Q9BTD4|O00468|axon_%20_guidance_%20_(GO:0007411)_%7C_carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_clustering_%20_of_%20_voltage-gated_%20_sodium_%20_channels_%20_(GO:0045162)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_glycosaminoglycan_%20_biosynthetic_%20_process_%20_(GO:0006024)_%7C_glycosaminoglycan_%20_catabolic_%20_process_%20_(GO:0006027)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_receptor_%20_metabolic_%20_process_%20_(GO:0045213)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_plasma_%20_membrane_%20_organization_%20_(GO:0007009)_%7C_positive_%20_regulation_%20_of_%20_filopodium_%20_assembly_%20_(GO:0051491)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_growth_%20_at_%20_neuromuscular_%20_junction_%20_(GO:0045887)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synapse_%20_organization_%20_(GO:0050808)|basal_%20_lamina_%20_(GO:0005605)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|acetylcholine_%20_receptor_%20_regulator_%20_activity_%20_(GO:0030548)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_chondroitin_%20_sulfate_%20_binding_%20_(GO:0035374)_%7C_dystroglycan_%20_binding_%20_(GO:0002162)_%7C_heparan_%20_sulfate_%20_proteoglycan_%20_binding_%20_(GO:0043395)_%7C_laminin_%20_binding_%20_(GO:0043236)_%7C_sialic_%20_acid_%20_binding_%20_(GO:0033691)_%7C_structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)||||true|false|0.998_%2C_0.001997|false|false|1||false|false|false|AGRN:375790|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|118105080|981345|false|false|0|true|0|true|0.99976_%2C_0.000240401|false|false|false|SNV|true|0x050128000305040436000100|1|false|132|rs118105080|] +1 984947 exm1957592 G A . PASS FUNCOTATION=[AGRN|hg19|chr1|984947|984947|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:984947G>A|ENST00000379370.2|+|26|4566|c.4516G>A|c.(4516-4518)Gcg>Acg|p.A1506T|0.7007481296758105|TGGTGGCAGGGCGCTGGAGCG||||||||||||||||||||||||||163|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(45)_%7C_kidney(1)_%7C_large_intestine(35)_%7C_lung(2)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(24)|||||||U84406|NM_198576.3|NP_940978.2|HGNC:329|agrin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AGRIN|"agrin_%20_proteoglycan"|||1p36.33|2017-07-07|2007-02-16||XM_372195||375790|ENSG00000188157|1851019_%2C__%20_12270958|NM_198576|570|Proteoglycans|CCDS30551|OTTHUMG00000040778|375790|103320|NM_001305275|O00468|ENSG00000188157|uc001ack.3|AGRIN_HUMAN||Q5SVA1_%7C_Q5SVA2_%7C_Q60FE1_%7C_Q7KYS8_%7C_Q8N4J5_%7C_Q96IC1_%7C_Q9BTD4|O00468|axon_%20_guidance_%20_(GO:0007411)_%7C_carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_clustering_%20_of_%20_voltage-gated_%20_sodium_%20_channels_%20_(GO:0045162)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_glycosaminoglycan_%20_biosynthetic_%20_process_%20_(GO:0006024)_%7C_glycosaminoglycan_%20_catabolic_%20_process_%20_(GO:0006027)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_receptor_%20_metabolic_%20_process_%20_(GO:0045213)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_plasma_%20_membrane_%20_organization_%20_(GO:0007009)_%7C_positive_%20_regulation_%20_of_%20_filopodium_%20_assembly_%20_(GO:0051491)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_growth_%20_at_%20_neuromuscular_%20_junction_%20_(GO:0045887)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synapse_%20_organization_%20_(GO:0050808)|basal_%20_lamina_%20_(GO:0005605)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|acetylcholine_%20_receptor_%20_regulator_%20_activity_%20_(GO:0030548)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_chondroitin_%20_sulfate_%20_binding_%20_(GO:0035374)_%7C_dystroglycan_%20_binding_%20_(GO:0002162)_%7C_heparan_%20_sulfate_%20_proteoglycan_%20_binding_%20_(GO:0043395)_%7C_laminin_%20_binding_%20_(GO:0043236)_%7C_sialic_%20_acid_%20_binding_%20_(GO:0033691)_%7C_structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|AGRN:375790|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200182409|984947|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000a05040436000100|1|false|137|rs200182409|] +1 985614 exm1300 C T . PASS FUNCOTATION=[AGRN|hg19|chr1|985614|985614|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:985614C>T|ENST00000379370.2|+|28|4931|c.4881C>T|c.(4879-4881)gcC>gcT|p.A1627A|0.6633416458852868|TCCCTACAGCCTCGGGGCAGG|RP11-54O7.14_ENST00000418300.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||163|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(45)_%7C_kidney(1)_%7C_large_intestine(35)_%7C_lung(2)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(24)|||||||U84406|NM_198576.3|NP_940978.2|HGNC:329|agrin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AGRIN|"agrin_%20_proteoglycan"|||1p36.33|2017-07-07|2007-02-16||XM_372195||375790|ENSG00000188157|1851019_%2C__%20_12270958|NM_198576|570|Proteoglycans|CCDS30551|OTTHUMG00000040778|375790|103320|NM_001305275|O00468|ENSG00000188157|uc001ack.3|AGRIN_HUMAN||Q5SVA1_%7C_Q5SVA2_%7C_Q60FE1_%7C_Q7KYS8_%7C_Q8N4J5_%7C_Q96IC1_%7C_Q9BTD4|O00468|axon_%20_guidance_%20_(GO:0007411)_%7C_carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_clustering_%20_of_%20_voltage-gated_%20_sodium_%20_channels_%20_(GO:0045162)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_glycosaminoglycan_%20_biosynthetic_%20_process_%20_(GO:0006024)_%7C_glycosaminoglycan_%20_catabolic_%20_process_%20_(GO:0006027)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_receptor_%20_metabolic_%20_process_%20_(GO:0045213)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_plasma_%20_membrane_%20_organization_%20_(GO:0007009)_%7C_positive_%20_regulation_%20_of_%20_filopodium_%20_assembly_%20_(GO:0051491)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_growth_%20_at_%20_neuromuscular_%20_junction_%20_(GO:0045887)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synapse_%20_organization_%20_(GO:0050808)|basal_%20_lamina_%20_(GO:0005605)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|acetylcholine_%20_receptor_%20_regulator_%20_activity_%20_(GO:0030548)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_chondroitin_%20_sulfate_%20_binding_%20_(GO:0035374)_%7C_dystroglycan_%20_binding_%20_(GO:0002162)_%7C_heparan_%20_sulfate_%20_proteoglycan_%20_binding_%20_(GO:0043395)_%7C_laminin_%20_binding_%20_(GO:0043236)_%7C_sialic_%20_acid_%20_binding_%20_(GO:0033691)_%7C_structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|AGRN:375790|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|144586153|985614|false|false|0|false|0|true|0.999691_%2C_0.000309087|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs144586153|] +1 985614 exm1300 C T . PASS FUNCOTATION=[AGRN|hg19|chr1|985614|985614|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:985614C>T|ENST00000379370.2|+|28|4931|c.4881C>T|c.(4879-4881)gcC>gcT|p.A1627A|0.6633416458852868|TCCCTACAGCCTCGGGGCAGG|RP11-54O7.14_ENST00000418300.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||163|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(45)_%7C_kidney(1)_%7C_large_intestine(35)_%7C_lung(2)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(24)|||||||U84406|NM_198576.3|NP_940978.2|HGNC:329|agrin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AGRIN|"agrin_%20_proteoglycan"|||1p36.33|2017-07-07|2007-02-16||XM_372195||375790|ENSG00000188157|1851019_%2C__%20_12270958|NM_198576|570|Proteoglycans|CCDS30551|OTTHUMG00000040778|375790|103320|NM_001305275|O00468|ENSG00000188157|uc001ack.3|AGRIN_HUMAN||Q5SVA1_%7C_Q5SVA2_%7C_Q60FE1_%7C_Q7KYS8_%7C_Q8N4J5_%7C_Q96IC1_%7C_Q9BTD4|O00468|axon_%20_guidance_%20_(GO:0007411)_%7C_carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_clustering_%20_of_%20_voltage-gated_%20_sodium_%20_channels_%20_(GO:0045162)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_glycosaminoglycan_%20_biosynthetic_%20_process_%20_(GO:0006024)_%7C_glycosaminoglycan_%20_catabolic_%20_process_%20_(GO:0006027)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_receptor_%20_metabolic_%20_process_%20_(GO:0045213)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_plasma_%20_membrane_%20_organization_%20_(GO:0007009)_%7C_positive_%20_regulation_%20_of_%20_filopodium_%20_assembly_%20_(GO:0051491)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_growth_%20_at_%20_neuromuscular_%20_junction_%20_(GO:0045887)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synapse_%20_organization_%20_(GO:0050808)|basal_%20_lamina_%20_(GO:0005605)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|acetylcholine_%20_receptor_%20_regulator_%20_activity_%20_(GO:0030548)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_chondroitin_%20_sulfate_%20_binding_%20_(GO:0035374)_%7C_dystroglycan_%20_binding_%20_(GO:0002162)_%7C_heparan_%20_sulfate_%20_proteoglycan_%20_binding_%20_(GO:0043395)_%7C_laminin_%20_binding_%20_(GO:0043236)_%7C_sialic_%20_acid_%20_binding_%20_(GO:0033691)_%7C_structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|AGRN:375790|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|144586153|985614|false|false|0|false|0|true|0.999691_%2C_0.000309087|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs144586153|] +1 990417 rs2465136 T C . PASS FUNCOTATION=[AGRN|hg19|chr1|990417|990417|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:990417T>C|ENST00000379370.2|+|36|||||0.6458852867830424|GTAAACTTGTTGCTTTTTGAT|RP11-54O7.14_ENST00000418300.1_RNA/RP11-465B22.3_ENST00000427998.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||163|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(45)_%7C_kidney(1)_%7C_large_intestine(35)_%7C_lung(2)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(24)|||||||U84406|NM_198576.3|NP_940978.2|HGNC:329|agrin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AGRIN|"agrin_%20_proteoglycan"|||1p36.33|2017-07-07|2007-02-16||XM_372195||375790|ENSG00000188157|1851019_%2C__%20_12270958|NM_198576|570|Proteoglycans|CCDS30551|OTTHUMG00000040778|375790|103320|NM_001305275|O00468|ENSG00000188157|uc001ack.3|AGRIN_HUMAN||Q5SVA1_%7C_Q5SVA2_%7C_Q60FE1_%7C_Q7KYS8_%7C_Q8N4J5_%7C_Q96IC1_%7C_Q9BTD4|O00468|axon_%20_guidance_%20_(GO:0007411)_%7C_carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_clustering_%20_of_%20_voltage-gated_%20_sodium_%20_channels_%20_(GO:0045162)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_glycosaminoglycan_%20_biosynthetic_%20_process_%20_(GO:0006024)_%7C_glycosaminoglycan_%20_catabolic_%20_process_%20_(GO:0006027)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_receptor_%20_metabolic_%20_process_%20_(GO:0045213)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_plasma_%20_membrane_%20_organization_%20_(GO:0007009)_%7C_positive_%20_regulation_%20_of_%20_filopodium_%20_assembly_%20_(GO:0051491)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_growth_%20_at_%20_neuromuscular_%20_junction_%20_(GO:0045887)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synapse_%20_organization_%20_(GO:0050808)|basal_%20_lamina_%20_(GO:0005605)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|acetylcholine_%20_receptor_%20_regulator_%20_activity_%20_(GO:0030548)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_chondroitin_%20_sulfate_%20_binding_%20_(GO:0035374)_%7C_dystroglycan_%20_binding_%20_(GO:0002162)_%7C_heparan_%20_sulfate_%20_proteoglycan_%20_binding_%20_(GO:0043395)_%7C_laminin_%20_binding_%20_(GO:0043236)_%7C_sialic_%20_acid_%20_binding_%20_(GO:0033691)_%7C_structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)||||true|false|0.616_%2C_0.384|false|false|1||false|true|true|AGRN:375790|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2465136|990417|true|false|0|true|0|false|0.565114_%2C_0.434886|false|true|false|SNV|true|0x05010080000517053f000100|1|false|100|rs2465136|] +1 998395 rs7526076 A G . PASS FUNCOTATION=[RP11-465B22.3|hg19|chr1|998395|998395|RNA||SNP|A|A|G|g.chr1:998395A>G|ENST00000427998.1|+|||c.e3-64A>G|||0.655860349127182|CGTGGAAACAATGAGGGAGGT|RP11-54O7.18_ENST00000442292.2_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1777_%2C_0.8223|false|false|1||false|true|true|LOC100288175:100288175|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7526076|998395|false|false|0|true|0|false|0.225771_%2C_0.774229|false|false|false|SNV|true|0x05010008000517053f000100|1|false|116|rs7526076|] +1 1018704 rs9442372 A G . PASS FUNCOTATION=[C1orf159|hg19|chr1|1018704|1018704|INTRON||SNP|A|A|G|g.chr1:1018704A>G|ENST00000379339.1|-|||c.e12+337T>C|||0.6384039900249376|CCGTAGTCCCAAGACCTCGAA|C1orf159_ENST00000421241.2_INTRON/C1orf159_ENST00000379319.1_INTRON/C1orf159_ENST00000379320.1_INTRON/C1orf159_ENST00000448924.1_INTRON/C1orf159_ENST00000294576.5_INTRON|||||||||||||||||||||||||||||||||BC008788|||HGNC:26062|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_159|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ20584||1p36.33|2016-09-30|||AK128434||54991|ENSG00000131591|12975309|NM_017891|||CCDS7_%2C__%20_CCDS81250|OTTHUMG00000000745|54991||NM_017891|Q96HA4|ENSG00000131591|uc001acu.3|CA159_HUMAN||B3KQ46_%7C_Q5T2W6_%7C_Q6UX67_%7C_Q6ZR77_%7C_Q9NWV0|Q96HA4||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.389_%2C_0.611|false|false|1||false|true|true|C1orf159:54991|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|9442372|1018704|false|false|0|true|0|false|0.413524_%2C_0.586476|false|false|false|SNV|true|0x05010008000517053f000101|1|false|119|rs9442372|] +1 1021583 rs10907178 A C . PASS FUNCOTATION=[C1orf159|hg19|chr1|1021583|1021583|INTRON||SNP|A|A|C|g.chr1:1021583A>C|ENST00000379339.1|-|||c.e9+191T>G|||0.6758104738154613|ATGCCTGGGCATCTGGCCGCG|C1orf159_ENST00000421241.2_INTRON/C1orf159_ENST00000379319.1_INTRON/C1orf159_ENST00000379320.1_INTRON/C1orf159_ENST00000448924.1_INTRON/C1orf159_ENST00000294576.5_INTRON/C1orf159_ENST00000437760.1_INTRON/C1orf159_ENST00000482816.1_INTRON|||||||||||||||||||||||||||||||||BC008788|||HGNC:26062|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_159|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ20584||1p36.33|2016-09-30|||AK128434||54991|ENSG00000131591|12975309|NM_017891|||CCDS7_%2C__%20_CCDS81250|OTTHUMG00000000745|54991||NM_017891|Q96HA4|ENSG00000131591|uc001acu.3|CA159_HUMAN||B3KQ46_%7C_Q5T2W6_%7C_Q6UX67_%7C_Q6ZR77_%7C_Q9NWV0|Q96HA4||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.8263_%2C_0.1737|false|false|1||false|true|true|C1orf159:54991|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10907178|1021583|false|false|0|true|0|false|0.814754_%2C_0.185246|false|false|false|SNV|true|0x05010008000517053f000100|1|false|120|rs10907178|] +1 1030565 rs6687776 C T . PASS FUNCOTATION=[C1orf159|hg19|chr1|1030565|1030565|INTRON||SNP|C|C|T|g.chr1:1030565C>T|ENST00000379339.1|-|||c.e3+3082G>A|||0.4139650872817955|TGATTAATTGCTTTGGCAATT|C1orf159_ENST00000421241.2_INTRON/C1orf159_ENST00000379319.1_INTRON/C1orf159_ENST00000448924.1_INTRON/C1orf159_ENST00000294576.5_INTRON/C1orf159_ENST00000437760.1_INTRON/C1orf159_ENST00000379320.1_FIVE_PRIME_FLANK/C1orf159_ENST00000482816.1_INTRON|||||||||||||||||||||||||||||||||BC008788|||HGNC:26062|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_159|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ20584||1p36.33|2016-09-30|||AK128434||54991|ENSG00000131591|12975309|NM_017891|||CCDS7_%2C__%20_CCDS81250|OTTHUMG00000000745|54991||NM_017891|Q96HA4|ENSG00000131591|uc001acu.3|CA159_HUMAN||B3KQ46_%7C_Q5T2W6_%7C_Q6UX67_%7C_Q6ZR77_%7C_Q9NWV0|Q96HA4||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.6933_%2C_0.3067|false|false|1||false|true|true|C1orf159:54991|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|6687776|1030565|false|false|0|true|0|false|0.686242_%2C_0.313758|false|false|false|SNV|true|0x05012808000517053f000101|1|false|116|rs6687776|] +1 1040026 rs6671356 T C . PASS FUNCOTATION=[C1orf159|hg19|chr1|1040026|1040026|INTRON||SNP|T|T|C|g.chr1:1040026T>C|ENST00000379339.1|-|||c.e2-10376A>G|||0.5211970074812967|CAAGCCTGCATGGTCTGGACA|C1orf159_ENST00000421241.2_INTRON/C1orf159_ENST00000379319.1_INTRON/C1orf159_ENST00000448924.1_INTRON/C1orf159_ENST00000294576.5_INTRON/C1orf159_ENST00000437760.1_INTRON/C1orf159_ENST00000482816.1_INTRON|||||||||||||||||||||||||||||||||BC008788|||HGNC:26062|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_159|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ20584||1p36.33|2016-09-30|||AK128434||54991|ENSG00000131591|12975309|NM_017891|||CCDS7_%2C__%20_CCDS81250|OTTHUMG00000000745|54991||NM_017891|Q96HA4|ENSG00000131591|uc001acu.3|CA159_HUMAN||B3KQ46_%7C_Q5T2W6_%7C_Q6UX67_%7C_Q6ZR77_%7C_Q9NWV0|Q96HA4||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.7171_%2C_0.2829|false|false|1||false|true|true|C1orf159:54991|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6671356|1040026|false|false|0|true|0|false|0.710488_%2C_0.289512|false|false|false|SNV|true|0x05010008000517053f000100|1|false|116|rs6671356|] +1 1062638 exm2263810 C A . PASS FUNCOTATION=[Unknown|hg19|chr1|1062638|1062638|IGR||SNP|C|C|A|g.chr1:1062638C>A|no_transcript|||||||0.543640897755611|CCCGGCCCGCCGCAGCTTTAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1062638 rs9442373 C A . PASS FUNCOTATION=[Unknown|hg19|chr1|1062638|1062638|IGR||SNP|C|C|A|g.chr1:1062638C>A|no_transcript|||||||0.543640897755611|CCCGGCCCGCCGCAGCTTTAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1066403 rs10907182 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1066403|1066403|IGR||SNP|T|T|C|g.chr1:1066403T>C|no_transcript|||||||0.5935162094763092|GGTCCGGCAATGGCATCCCAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1097335 rs9442385 T G . PASS FUNCOTATION=[Unknown|hg19|chr1|1097335|1097335|IGR||SNP|T|T|G|g.chr1:1097335T>G|no_transcript|||||||0.6309226932668329|GGGCTCTTCCTCTGGGAGATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1106784 rs4442317 T C . PASS FUNCOTATION=[TTLL10|hg19|chr1|1106784|1106784|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:1106784T>C|ENST00000379289.1|+||||||0.6683291770573566|GAAGGGCCAGTTCTGGAGAGG|TTLL10_ENST00000379290.1_FIVE_PRIME_FLANK/TTLL10_ENST00000506177.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|NM_001130045.1|NP_001123517.1|HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1110019 rs11260542 A G . PASS FUNCOTATION=[TTLL10|hg19|chr1|1110019|1110019|INTRON||SNP|A|A|G|g.chr1:1110019A>G|ENST00000379290.1|+|||c.e3+150A>G|||0.5685785536159601|AGGACACGTCAGTCAGCATCT|TTLL10_ENST00000379289.1_INTRON/TTLL10-AS1_ENST00000379317.1_RNA/TTLL10_ENST00000506177.1_INTRON|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.8554_%2C_0.1446|false|false|1||false|true|false|TTLL10:254173_%7C_TTLL10-AS1:100506376|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11260542|1110019|false|false|0|true|0|false|0.84422_%2C_0.15578|false|false|false|SNV|true|0x050100080005150537000100|1|false|120|rs11260542|] +1 1113121 rs12092254 G A . PASS FUNCOTATION=[TTLL10|hg19|chr1|1113121|1113121|INTRON||SNP|G|G|A|g.chr1:1113121G>A|ENST00000379290.1|+|||c.e4-1448G>A|||0.6059850374064838|GGTGCTGAGGGCCCATGAGAA|TTLL10_ENST00000379289.1_INTRON/TTLL10_ENST00000379288.3_FIVE_PRIME_FLANK/TTLL10-AS1_ENST00000379317.1_RNA|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.8786_%2C_0.1214|false|false|1||false|true|false|TTLL10:254173_%7C_TTLL10-AS1:100506376|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|12092254|1113121|false|false|0|true|0|false|0.881997_%2C_0.118003|false|false|false|SNV|true|0x0501000a0005150537000100|1|false|120|rs12092254|] +1 1115954 exm1571 C T . PASS FUNCOTATION=[TTLL10|hg19|chr1|1115954|1115954|NONSENSE||SNP|C|C|T|g.chr1:1115954C>T|ENST00000379290.1|+|7|771|c.598C>T|c.(598-600)Cga>Tga|p.R200*|0.6907730673316709|GGTCAAGAGCCGAGACAGCTA|TTLL10_ENST00000379289.1_NONSENSE_p.R200*/TTLL10_ENST00000379288.3_NONSENSE_p.R127*/TTLL10-AS1_ENST00000379317.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|TTLL10:254173|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|191284590|1115954|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000605040436000100|1|false|135|rs191284590|] +1 1120488 exm1649 A C . PASS FUNCOTATION=[TTLL10|hg19|chr1|1120488|1120488|SPLICE_SITE|MISSENSE|SNP|A|A|C|g.chr1:1120488A>C|ENST00000379290.1|+|13|1573|c.1400A>C|c.(1399-1401)aAg>aCg|p.K467T|0.6309226932668329|ACCACCCTCAAGGTGCGTCCA|TTLL10_ENST00000379289.1_SPLICE_SITE_p.K467T/TTLL10_ENST00000379288.3_MISSENSE_p.K394T|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.9782_%2C_0.02177|false|false|1||false|true|false|TTLL10:254173|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|74475385|1120488|false|true|0|true|0|false|0.971564_%2C_0.028436|false|false|false|SNV|true|0x050300000a0515043e000100|1|false|131|rs74475385|] +1 1120489 exm2249617 G A . PASS FUNCOTATION=[TTLL10|hg19|chr1|1120489|1120489|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1120489G>A|ENST00000379290.1|+|13|1574|c.1401G>A|c.(1399-1401)aaG>aaA|p.K467K|0.6309226932668329|CCACCCTCAAGGTGCGTCCAC|TTLL10_ENST00000379289.1_SPLICE_SITE_p.K467K/TTLL10_ENST00000379288.3_SILENT_p.K394K|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|TTLL10:254173|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|142263062|1120489|false|true|0|false|0|true||false|false|false|SNV|true|0x050200000305040436000100|1|false|134|rs142263062|] +1 1120489 exm2249617 G A . PASS FUNCOTATION=[TTLL10|hg19|chr1|1120489|1120489|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1120489G>A|ENST00000379290.1|+|13|1574|c.1401G>A|c.(1399-1401)aaG>aaA|p.K467K|0.6309226932668329|CCACCCTCAAGGTGCGTCCAC|TTLL10_ENST00000379289.1_SPLICE_SITE_p.K467K/TTLL10_ENST00000379288.3_SILENT_p.K394K|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|TTLL10:254173|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|142263062|1120489|false|true|0|false|0|true||false|false|false|SNV|true|0x050200000305040436000100|1|false|134|rs142263062|] +1 1120494 exm1651 G A . PASS FUNCOTATION=[TTLL10|hg19|chr1|1120494|1120494|INTRON||SNP|G|G|A|g.chr1:1120494G>A|ENST00000379290.1|+|||c.e13+5G>A|||0.6359102244389028|CTCAAGGTGCGTCCACTGTGC|TTLL10_ENST00000379289.1_INTRON/TTLL10_ENST00000379288.3_MISSENSE_p.R396H|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.9972_%2C_0.002796|false|false|1||false|false|false|TTLL10:254173|true|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|74046642|1120494|false|false|0|true|0|false|0.996806_%2C_0.0031939|false|false|false|SNV|true|0x050100080a0504053e000100|1|false|130|rs74046642|] +1 1120503 exm1654 G A . PASS FUNCOTATION=[TTLL10|hg19|chr1|1120503|1120503|INTRON||SNP|G|G|A|g.chr1:1120503G>A|ENST00000379290.1|+|||c.e13+14G>A|||0.6309226932668329|CGTCCACTGTGCCCTCCAGTC|TTLL10_ENST00000379289.1_INTRON/TTLL10_ENST00000379288.3_MISSENSE_p.C399Y|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.9784_%2C_0.02157|false|false|1||false|true|false|TTLL10:254173|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|116251234|1120503|false|false|0|true|0|false|0.972113_%2C_0.0278865|false|false|false|SNV|true|0x050100080a0515043e000100|1|false|132|rs116251234|] +1 1120536 psy_rs77950429 G A . PASS FUNCOTATION=[TTLL10|hg19|chr1|1120536|1120536|INTRON||SNP|G|G|A|g.chr1:1120536G>A|ENST00000379290.1|+|||c.e13+47G>A|||0.6384039900249376|CCCTCGGGGCGGGGGTGTGTG|TTLL10_ENST00000379289.1_INTRON/TTLL10_ENST00000379288.3_THREE_PRIME_UTR|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.9483_%2C_0.05172|false|false|1||false|true|false|TTLL10:254173|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|77950429|1120536|false|false|0|true|0|false|0.976578_%2C_0.0234219|false|true|false|SNV|true|0x050100880005150536000100|1|false|131|rs77950429|] +1 1121794 rs11260549 G A . PASS FUNCOTATION=[TTLL10|hg19|chr1|1121794|1121794|INTRON||SNP|G|G|A|g.chr1:1121794G>A|ENST00000379290.1|+|||c.e13+1305G>A|||0.46633416458852867|ACAACGTTCCGTCATATGGAT|TTLL10_ENST00000379289.1_INTRON|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.7434_%2C_0.2566|false|false|1||false|true|false|TTLL10:254173|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|11260549|1121794|false|false|0|true|0|false|0.884917_%2C_0.115083|false|false|false|SNV|true|0x050128080005150537000100|1|false|120|rs11260549|] +1 1130727 rs10907175 A C . PASS FUNCOTATION=[TTLL10|hg19|chr1|1130727|1130727|INTRON||SNP|A|A|C|g.chr1:1130727A>C|ENST00000379290.1|+|||c.e14-1253A>C|||0.38403990024937656|ATCTGCAAACAATTCAAATCT|TTLL10_ENST00000379289.1_INTRON|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.8956_%2C_0.1044|false|false|1||false|true|false|TTLL10:254173|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10907175|1130727|false|false|0|true|0|false|0.898104_%2C_0.101896|false|false|false|SNV|true|0x05010008000515053f000101|1|false|120|rs10907175|] +1 1138913 rs3819001 T C . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1138913|1138913|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:1138913T>C|ENST00000379268.2|-|5|||||0.6783042394014963|TTATTGAAGGTCCCCTGCAGC|TNFRSF18_ENST00000328596.6_THREE_PRIME_UTR|GBM(157_%3B_472_%20_1934_%20_13810_%20_14591_%20_35952)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_148902.1|NP_683700.1|HGNC:11914|TNF_%20_receptor_%20_superfamily_%20_member_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_18"|AITR_%2C__%20_GITR_%2C__%20_CD357||1p36.33|2016-10-05||2016-06-28|AF125304||8784|ENSG00000186891|9177197_%2C__%20_10037686|NM_004195|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS9_%2C__%20_CCDS10_%2C__%20_CCDS30552|OTTHUMG00000001414|8784|603905|NM_004195|Q9Y5U5|ENSG00000186891|uc001add.4|TNR18_HUMAN||B1AME1_%7C_O95851_%7C_Q5U0I4_%7C_Q9NYJ9|Q9Y5U5|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)||||true|false|0.8015_%2C_0.1985|false|false|1||false|true|false|TNFRSF18:8784|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3819001|1138913|true|false|0|true|0|false|0.781922_%2C_0.218078|false|true|false|SNV|true|0x05010080000515053f000100|1|false|107|rs3819001|] +1 1139062 exm1677 G A . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1139062|1139062|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:1139062G>A|ENST00000379268.2|-|5|||||0.685785536159601|CGCGGCCGCCGAACTGCATGG|TNFRSF18_ENST00000328596.6_MISSENSE_p.S226L|GBM(157_%3B_472_%20_1934_%20_13810_%20_14591_%20_35952)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_148902.1|NP_683700.1|HGNC:11914|TNF_%20_receptor_%20_superfamily_%20_member_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_18"|AITR_%2C__%20_GITR_%2C__%20_CD357||1p36.33|2016-10-05||2016-06-28|AF125304||8784|ENSG00000186891|9177197_%2C__%20_10037686|NM_004195|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS9_%2C__%20_CCDS10_%2C__%20_CCDS30552|OTTHUMG00000001414|8784|603905|NM_004195|Q9Y5U5|ENSG00000186891|uc001add.4|TNR18_HUMAN||B1AME1_%7C_O95851_%7C_Q5U0I4_%7C_Q9NYJ9|Q9Y5U5|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|TNFRSF18:8784|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200799216|1139062|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|true|false|SNV|true|0x050000800a05040436000100|1|false|137|rs200799216|] +1 1139268 exm1688 G A . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1139268|1139268|NONSENSE||SNP|G|G|A|g.chr1:1139268G>A|ENST00000379268.2|-|5|802|c.682C>T|c.(682-684)Cga>Tga|p.R228*|0.7007481296758105|TCTGCCGATCGCTCGCCCCGC|TNFRSF18_ENST00000379265.5_NONSENSE_p.R221*/TNFRSF18_ENST00000486728.1_NONSENSE_p.R156*/TNFRSF18_ENST00000328596.6_SILENT_p.S157S|GBM(157_%3B_472_%20_1934_%20_13810_%20_14591_%20_35952)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_148902.1|NP_683700.1|HGNC:11914|TNF_%20_receptor_%20_superfamily_%20_member_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_18"|AITR_%2C__%20_GITR_%2C__%20_CD357||1p36.33|2016-10-05||2016-06-28|AF125304||8784|ENSG00000186891|9177197_%2C__%20_10037686|NM_004195|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS9_%2C__%20_CCDS10_%2C__%20_CCDS30552|OTTHUMG00000001414|8784|603905|NM_004195|Q9Y5U5|ENSG00000186891|uc001add.4|TNR18_HUMAN||B1AME1_%7C_O95851_%7C_Q5U0I4_%7C_Q9NYJ9|Q9Y5U5|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)||||true|false||false|false|||false|false|false|TNFRSF18:8784|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|142584447|1139268|false|false|0|false|0|true|0.999107_%2C_0.000892918|false|false|false|SNV|true|0x050000000705040402000100|1|false|134|rs142584447|] +1 1139287 exm1692 G A . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1139287|1139287|SILENT||SNP|G|G|A|g.chr1:1139287G>A|ENST00000379268.2|-|5|783|c.663C>T|c.(661-663)ccC>ccT|p.P221P|0.7007481296758105|GCTCTTCCTCGGGGAACTGGC|TNFRSF18_ENST00000379265.5_SILENT_p.P214P/TNFRSF18_ENST00000328596.6_MISSENSE_p.P151L/TNFRSF18_ENST00000486728.1_SILENT_p.P149P|GBM(157_%3B_472_%20_1934_%20_13810_%20_14591_%20_35952)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_148902.1|NP_683700.1|HGNC:11914|TNF_%20_receptor_%20_superfamily_%20_member_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_18"|AITR_%2C__%20_GITR_%2C__%20_CD357||1p36.33|2016-10-05||2016-06-28|AF125304||8784|ENSG00000186891|9177197_%2C__%20_10037686|NM_004195|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS9_%2C__%20_CCDS10_%2C__%20_CCDS30552|OTTHUMG00000001414|8784|603905|NM_004195|Q9Y5U5|ENSG00000186891|uc001add.4|TNR18_HUMAN||B1AME1_%7C_O95851_%7C_Q5U0I4_%7C_Q9NYJ9|Q9Y5U5|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)||||true|false|0.9986_%2C_0.001398_%2C_._%2C_.|false|false|1||false|false|false|TNFRSF18:8784|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199916456|1139287|false|false|0|false|0|true|0.999863_%2C_0.000103029_%2C_3.4343e-005_%2C_.|false|false|false|SNV|true|0x050000000b05040436000100|1|false|137|rs199916456|] +1 1139308 exm1693 G A . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1139308|1139308|SILENT||SNP|G|G|A|g.chr1:1139308G>A|ENST00000379268.2|-|5|762|c.642C>T|c.(640-642)gaC>gaT|p.D214D|0.7082294264339152|AGCTTCTGGCGTCTTCGGTCG|TNFRSF18_ENST00000379265.5_SILENT_p.D207D/TNFRSF18_ENST00000328596.6_MISSENSE_p.T144M/TNFRSF18_ENST00000486728.1_SILENT_p.D142D|GBM(157_%3B_472_%20_1934_%20_13810_%20_14591_%20_35952)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_148902.1|NP_683700.1|HGNC:11914|TNF_%20_receptor_%20_superfamily_%20_member_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_18"|AITR_%2C__%20_GITR_%2C__%20_CD357||1p36.33|2016-10-05||2016-06-28|AF125304||8784|ENSG00000186891|9177197_%2C__%20_10037686|NM_004195|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS9_%2C__%20_CCDS10_%2C__%20_CCDS30552|OTTHUMG00000001414|8784|603905|NM_004195|Q9Y5U5|ENSG00000186891|uc001add.4|TNR18_HUMAN||B1AME1_%7C_O95851_%7C_Q5U0I4_%7C_Q9NYJ9|Q9Y5U5|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)||||true|false|0.9992_%2C_0.0007987_%2C_.|false|false|0||false|false|false|TNFRSF18:8784|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201894449|1139308|false|false|0|false|0|true|0.999863_%2C_0.000137372_%2C_.|false|false|false|SNV|true|0x050000000b05040426000100|1|false|137|rs201894449|] +1 1139320 exm1695 C T . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1139320|1139320|SILENT||SNP|C|C|T|g.chr1:1139320C>T|ENST00000379268.2|-|5|750|c.630G>A|c.(628-630)ccG>ccA|p.P210P|0.7107231920199502|CTTCGGTCGACGGCGGCACCT|TNFRSF18_ENST00000379265.5_SILENT_p.P203P/TNFRSF18_ENST00000328596.6_MISSENSE_p.R140H/TNFRSF18_ENST00000486728.1_SILENT_p.P138P|GBM(157_%3B_472_%20_1934_%20_13810_%20_14591_%20_35952)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_148902.1|NP_683700.1|HGNC:11914|TNF_%20_receptor_%20_superfamily_%20_member_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_18"|AITR_%2C__%20_GITR_%2C__%20_CD357||1p36.33|2016-10-05||2016-06-28|AF125304||8784|ENSG00000186891|9177197_%2C__%20_10037686|NM_004195|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS9_%2C__%20_CCDS10_%2C__%20_CCDS30552|OTTHUMG00000001414|8784|603905|NM_004195|Q9Y5U5|ENSG00000186891|uc001add.4|TNR18_HUMAN||B1AME1_%7C_O95851_%7C_Q5U0I4_%7C_Q9NYJ9|Q9Y5U5|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|TNFRSF18:8784|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200096730|1139320|false|false|0|false|0|true|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000b05040426000100|1|false|137|rs200096730|] +1 1141765 exm1730 C T . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1141765|1141765|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:1141765C>T|ENST00000379268.2|-|1|307|c.187G>A|c.(187-189)Ggc>Agc|p.G63S|0.7107231920199502|GTTTACTTACCCGGGTAATCG|TNFRSF18_ENST00000379265.5_SPLICE_SITE_p.G63S/TNFRSF18_ENST00000328596.6_SPLICE_SITE_p.G63S/TNFRSF18_ENST00000486728.1_FIVE_PRIME_FLANK|GBM(157_%3B_472_%20_1934_%20_13810_%20_14591_%20_35952)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_148902.1|NP_683700.1|HGNC:11914|TNF_%20_receptor_%20_superfamily_%20_member_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_18"|AITR_%2C__%20_GITR_%2C__%20_CD357||1p36.33|2016-10-05||2016-06-28|AF125304||8784|ENSG00000186891|9177197_%2C__%20_10037686|NM_004195|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS9_%2C__%20_CCDS10_%2C__%20_CCDS30552|OTTHUMG00000001414|8784|603905|NM_004195|Q9Y5U5|ENSG00000186891|uc001add.4|TNR18_HUMAN||B1AME1_%7C_O95851_%7C_Q5U0I4_%7C_Q9NYJ9|Q9Y5U5|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)||||true|false|0.9976_%2C_0.002396|false|false|1||false|false|false|TNFRSF18:8784|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|72894038|1141765|false|false|0|false|0|false|0.99684_%2C_0.00315956|false|false|false|SNV|true|0x050000000a0504053e000100|1|false|130|rs72894038|] +1 1153073 exm1702568 G A . PASS FUNCOTATION=[SDF4|hg19|chr1|1153073|1153073|INTRON||SNP|G|G|A|g.chr1:1153073G>A|ENST00000360001.6|-|||c.e7+5C>T|||0.6583541147132169|GTAGCTCTGCGGGCGAGCGGG|SDF4_ENST00000263741.7_MISSENSE_p.R342C/TNFRSF4_ENST00000379236.3_FIVE_PRIME_FLANK/TNFRSF4_ENST00000453580.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||L79912|||HGNC:24188|stromal_%20_cell_%20_derived_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Cab45|"calcium_%20_binding_%20_protein"|1p36.33|2014-11-19|||||51150|ENSG00000078808|9254016_%2C__%20_8609160|NM_016176|863|EF-hand_%20_domain_%20_containing|CCDS12_%2C__%20_CCDS30553|OTTHUMG00000001812|51150|614282|NM_016176|Q9BRK5|ENSG00000078808|uc001adi.5|CAB45_HUMAN||B1AME5_%7C_B1AME6_%7C_B2RDF1_%7C_B4DSM1_%7C_Q53G52_%7C_Q53HQ9_%7C_Q8NBQ3_%7C_Q96AA1_%7C_Q9NZP7_%7C_Q9UN53|Q9BRK5|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_cerebellum_%20_development_%20_(GO:0021549)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_UV_%20_protection_%20_(GO:0009650)_%7C_zymogen_%20_granule_%20_exocytosis_%20_(GO:0070625)|cell_%20_projection_%20_(GO:0042995)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|SDF4:51150|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199825378|1153073|false|false|0|true|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050100080a05040436000100|1|false|137|rs199825378|] +1 1153099 exm1829 G A . PASS FUNCOTATION=[SDF4|hg19|chr1|1153099|1153099|INTRON||SNP|G|G|A|g.chr1:1153099G>A|ENST00000360001.6|-|||c.e7+31C>T|||0.6483790523690773|GGTCAGCGTCGCCTTTCCCCC|SDF4_ENST00000263741.7_MISSENSE_p.A333V/TNFRSF4_ENST00000379236.3_FIVE_PRIME_FLANK/TNFRSF4_ENST00000453580.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||L79912|||HGNC:24188|stromal_%20_cell_%20_derived_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Cab45|"calcium_%20_binding_%20_protein"|1p36.33|2014-11-19|||||51150|ENSG00000078808|9254016_%2C__%20_8609160|NM_016176|863|EF-hand_%20_domain_%20_containing|CCDS12_%2C__%20_CCDS30553|OTTHUMG00000001812|51150|614282|NM_016176|Q9BRK5|ENSG00000078808|uc001adi.5|CAB45_HUMAN||B1AME5_%7C_B1AME6_%7C_B2RDF1_%7C_B4DSM1_%7C_Q53G52_%7C_Q53HQ9_%7C_Q8NBQ3_%7C_Q96AA1_%7C_Q9NZP7_%7C_Q9UN53|Q9BRK5|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_cerebellum_%20_development_%20_(GO:0021549)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_UV_%20_protection_%20_(GO:0009650)_%7C_zymogen_%20_granule_%20_exocytosis_%20_(GO:0070625)|cell_%20_projection_%20_(GO:0042995)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|SDF4:51150|false|true|true|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|139298872|1153099|false|false|0|false|0|false|0.999073_%2C_0.000927261|false|false|false|SNV|true|0x050000080a05040426000100|1|false|134|rs139298872|] +1 1153129 exm1832 C T . PASS FUNCOTATION=[SDF4|hg19|chr1|1153129|1153129|INTRON||SNP|C|C|T|g.chr1:1153129C>T|ENST00000360001.6|-|||c.e7+61G>A|||0.6408977556109726|CGCGGCCAGCCGCACGAAGTG|SDF4_ENST00000263741.7_MISSENSE_p.R323Q/TNFRSF4_ENST00000379236.3_FIVE_PRIME_FLANK/TNFRSF4_ENST00000453580.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||L79912|||HGNC:24188|stromal_%20_cell_%20_derived_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Cab45|"calcium_%20_binding_%20_protein"|1p36.33|2014-11-19|||||51150|ENSG00000078808|9254016_%2C__%20_8609160|NM_016176|863|EF-hand_%20_domain_%20_containing|CCDS12_%2C__%20_CCDS30553|OTTHUMG00000001812|51150|614282|NM_016176|Q9BRK5|ENSG00000078808|uc001adi.5|CAB45_HUMAN||B1AME5_%7C_B1AME6_%7C_B2RDF1_%7C_B4DSM1_%7C_Q53G52_%7C_Q53HQ9_%7C_Q8NBQ3_%7C_Q96AA1_%7C_Q9NZP7_%7C_Q9UN53|Q9BRK5|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_cerebellum_%20_development_%20_(GO:0021549)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_UV_%20_protection_%20_(GO:0009650)_%7C_zymogen_%20_granule_%20_exocytosis_%20_(GO:0070625)|cell_%20_projection_%20_(GO:0042995)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||true|false|0.9946_%2C_0.005391|false|false|1||false|false|false|SDF4:51150|true|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|72894044|1153129|false|false|0|true|0|false|0.993028_%2C_0.00697163|false|false|false|SNV|true|0x050100080a0504053e000100|1|false|130|rs72894044|] +1 1158277 rs3813199 G A . PASS FUNCOTATION=[SDF4|hg19|chr1|1158277|1158277|INTRON||SNP|G|G|A|g.chr1:1158277G>A|ENST00000360001.6|-|||c.e4-347C>T|||0.5860349127182045|ATGTACTCACGAGCCTACATG|SDF4_ENST00000263741.7_INTRON/SDF4_ENST00000545427.1_INTRON|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||L79912|||HGNC:24188|stromal_%20_cell_%20_derived_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Cab45|"calcium_%20_binding_%20_protein"|1p36.33|2014-11-19|||||51150|ENSG00000078808|9254016_%2C__%20_8609160|NM_016176|863|EF-hand_%20_domain_%20_containing|CCDS12_%2C__%20_CCDS30553|OTTHUMG00000001812|51150|614282|NM_016176|Q9BRK5|ENSG00000078808|uc001adi.5|CAB45_HUMAN||B1AME5_%7C_B1AME6_%7C_B2RDF1_%7C_B4DSM1_%7C_Q53G52_%7C_Q53HQ9_%7C_Q8NBQ3_%7C_Q96AA1_%7C_Q9NZP7_%7C_Q9UN53|Q9BRK5|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_cerebellum_%20_development_%20_(GO:0021549)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_UV_%20_protection_%20_(GO:0009650)_%7C_zymogen_%20_granule_%20_exocytosis_%20_(GO:0070625)|cell_%20_projection_%20_(GO:0042995)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||true|false|0.8758_%2C_0.1242|false|false|1||false|true|false|SDF4:51150|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|3813199|1158277|true|false|0|true|0|false|0.871042_%2C_0.128958|false|false|false|SNV|true|0x05012808000515053f000100|1|false|107|rs3813199|] +1 1159213 exm1864 G A . PASS FUNCOTATION=[SDF4|hg19|chr1|1159213|1159213|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1159213G>A|ENST00000360001.6|-|3|725|c.462C>T|c.(460-462)gaC>gaT|p.D154D|0.6608478802992519|CCACAGTACCGTCCCCGTCAG|SDF4_ENST00000263741.7_SPLICE_SITE_p.D154D/SDF4_ENST00000545427.1_SPLICE_SITE_p.D154D|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||L79912|||HGNC:24188|stromal_%20_cell_%20_derived_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Cab45|"calcium_%20_binding_%20_protein"|1p36.33|2014-11-19|||||51150|ENSG00000078808|9254016_%2C__%20_8609160|NM_016176|863|EF-hand_%20_domain_%20_containing|CCDS12_%2C__%20_CCDS30553|OTTHUMG00000001812|51150|614282|NM_016176|Q9BRK5|ENSG00000078808|uc001adi.5|CAB45_HUMAN||B1AME5_%7C_B1AME6_%7C_B2RDF1_%7C_B4DSM1_%7C_Q53G52_%7C_Q53HQ9_%7C_Q8NBQ3_%7C_Q96AA1_%7C_Q9NZP7_%7C_Q9UN53|Q9BRK5|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_cerebellum_%20_development_%20_(GO:0021549)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_UV_%20_protection_%20_(GO:0009650)_%7C_zymogen_%20_granule_%20_exocytosis_%20_(GO:0070625)|cell_%20_projection_%20_(GO:0042995)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|SDF4:51150|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|149289348|1159213|false|false|0|false|0|true|0.999141_%2C_0.000858575|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs149289348|] +1 1159213 exm1864 G A . PASS FUNCOTATION=[SDF4|hg19|chr1|1159213|1159213|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1159213G>A|ENST00000360001.6|-|3|725|c.462C>T|c.(460-462)gaC>gaT|p.D154D|0.6608478802992519|CCACAGTACCGTCCCCGTCAG|SDF4_ENST00000263741.7_SPLICE_SITE_p.D154D/SDF4_ENST00000545427.1_SPLICE_SITE_p.D154D|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||L79912|||HGNC:24188|stromal_%20_cell_%20_derived_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Cab45|"calcium_%20_binding_%20_protein"|1p36.33|2014-11-19|||||51150|ENSG00000078808|9254016_%2C__%20_8609160|NM_016176|863|EF-hand_%20_domain_%20_containing|CCDS12_%2C__%20_CCDS30553|OTTHUMG00000001812|51150|614282|NM_016176|Q9BRK5|ENSG00000078808|uc001adi.5|CAB45_HUMAN||B1AME5_%7C_B1AME6_%7C_B2RDF1_%7C_B4DSM1_%7C_Q53G52_%7C_Q53HQ9_%7C_Q8NBQ3_%7C_Q96AA1_%7C_Q9NZP7_%7C_Q9UN53|Q9BRK5|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_cerebellum_%20_development_%20_(GO:0021549)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_UV_%20_protection_%20_(GO:0009650)_%7C_zymogen_%20_granule_%20_exocytosis_%20_(GO:0070625)|cell_%20_projection_%20_(GO:0042995)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|SDF4:51150|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|149289348|1159213|false|false|0|false|0|true|0.999141_%2C_0.000858575|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs149289348|] +1 1163804 rs7515488 C T . PASS FUNCOTATION=[SDF4|hg19|chr1|1163804|1163804|INTRON||SNP|C|C|T|g.chr1:1163804C>T|ENST00000360001.6|-|||c.e2-44G>A|||0.6783042394014963|CACAGGCGAGCGCACGCGGAC|SDF4_ENST00000263741.7_INTRON/SDF4_ENST00000545427.1_INTRON/B3GALT6_ENST00000379198.2_FIVE_PRIME_FLANK/SDF4_ENST00000459994.2_INTRON|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||L79912|||HGNC:24188|stromal_%20_cell_%20_derived_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Cab45|"calcium_%20_binding_%20_protein"|1p36.33|2014-11-19|||||51150|ENSG00000078808|9254016_%2C__%20_8609160|NM_016176|863|EF-hand_%20_domain_%20_containing|CCDS12_%2C__%20_CCDS30553|OTTHUMG00000001812|51150|614282|NM_016176|Q9BRK5|ENSG00000078808|uc001adi.5|CAB45_HUMAN||B1AME5_%7C_B1AME6_%7C_B2RDF1_%7C_B4DSM1_%7C_Q53G52_%7C_Q53HQ9_%7C_Q8NBQ3_%7C_Q96AA1_%7C_Q9NZP7_%7C_Q9UN53|Q9BRK5|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_cerebellum_%20_development_%20_(GO:0021549)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_UV_%20_protection_%20_(GO:0009650)_%7C_zymogen_%20_granule_%20_exocytosis_%20_(GO:0070625)|cell_%20_projection_%20_(GO:0042995)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||true|false|0.8131_%2C_0.1869|false|false|1||false|true|true|SDF4:51150|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|7515488|1163804|false|false|0|true|0|false|0.830792_%2C_0.169208|false|false|false|SNV|true|0x05012808000517053f000100|1|false|116|rs7515488|] +1 1178442 exm1949 G A . PASS FUNCOTATION=[FAM132A|hg19|chr1|1178442|1178442|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1178442G>A|ENST00000330388.2|-|6|763|c.731C>T|c.(730-732)aCg>aTg|p.T244M|0.6882793017456359|GGTCACTCACGTGTGGCGCTG||||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC089443|NM_001014980.2|NP_001014980.1||||||||||||||||||||||||||||||ADIPL_HUMAN||Q5EBL5|Q5T7M4|negative_%20_regulation_%20_of_%20_gluconeogenesis_%20_(GO:0045721)_%7C_negative_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050728)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_secretion_%20_involved_%20_in_%20_cellular_%20_response_%20_to_%20_glucose_%20_stimulus_%20_(GO:0035774)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051897)_%7C_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046324)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|hormone_%20_activity_%20_(GO:0005179)||||true|false||false|false|||false|false|false|FAM132A:388581|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149401953|1178442|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000a05000402000100|1|false|134|rs149401953|] +1 1178848 exm1965 G A . PASS FUNCOTATION=[FAM132A|hg19|chr1|1178848|1178848|NONSENSE||SNP|G|G|A|g.chr1:1178848G>A|ENST00000330388.2|-|5|648|c.616C>T|c.(616-618)Cag>Tag|p.Q206*|0.71571072319202|GCAGAGAACTGGAAGATGCCG||||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC089443|NM_001014980.2|NP_001014980.1||||||||||||||||||||||||||||||ADIPL_HUMAN||Q5EBL5|Q5T7M4|negative_%20_regulation_%20_of_%20_gluconeogenesis_%20_(GO:0045721)_%7C_negative_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050728)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_secretion_%20_involved_%20_in_%20_cellular_%20_response_%20_to_%20_glucose_%20_stimulus_%20_(GO:0035774)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051897)_%7C_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046324)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|hormone_%20_activity_%20_(GO:0005179)||||true|false|0.9968_%2C_0.003195|false|false|1||false|false|false|FAM132A:388581|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|115005664|1178848|false|false|0|false|0|false|0.993474_%2C_0.00652562|false|false|false|SNV|true|0x050000000605040436000100|1|false|132|rs115005664|] +1 1179619 exm1987 C A . PASS FUNCOTATION=[FAM132A|hg19|chr1|1179619|1179619|NONSENSE||SNP|C|C|A|g.chr1:1179619C>A|ENST00000330388.2|-|3|363|c.331G>T|c.(331-333)Gaa>Taa|p.E111*|0.6982543640897756|GCGGTCACTTCTGCACCTGGA||||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC089443|NM_001014980.2|NP_001014980.1||||||||||||||||||||||||||||||ADIPL_HUMAN||Q5EBL5|Q5T7M4|negative_%20_regulation_%20_of_%20_gluconeogenesis_%20_(GO:0045721)_%7C_negative_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050728)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_secretion_%20_involved_%20_in_%20_cellular_%20_response_%20_to_%20_glucose_%20_stimulus_%20_(GO:0035774)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051897)_%7C_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046324)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|hormone_%20_activity_%20_(GO:0005179)||||true|false||false|false|||false|false|false|FAM132A:388581|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|201741650|1179619|false|false|0|false|0|false|0.999966_%2C_3.43454e-005|false|false|false|SNV|true|0x050000000605040402000100|1|false|137|rs201741650|] +1 1179762 exm1992 G A . PASS FUNCOTATION=[FAM132A|hg19|chr1|1179762|1179762|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1179762G>A|ENST00000330388.2|-|2|325|c.293C>T|c.(292-294)cCg>cTg|p.P98L|0.6708229426433915|GGGGCTCACCGGCTTCTTGTC||||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC089443|NM_001014980.2|NP_001014980.1||||||||||||||||||||||||||||||ADIPL_HUMAN||Q5EBL5|Q5T7M4|negative_%20_regulation_%20_of_%20_gluconeogenesis_%20_(GO:0045721)_%7C_negative_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050728)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_secretion_%20_involved_%20_in_%20_cellular_%20_response_%20_to_%20_glucose_%20_stimulus_%20_(GO:0035774)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051897)_%7C_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046324)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|hormone_%20_activity_%20_(GO:0005179)||||true|false||false|false|||false|false|false|FAM132A:388581|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149663992|1179762|false|false|0|false|0|false|0.999966_%2C_3.43454e-005|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs149663992|] +1 1203938 rs4018608 T C . PASS FUNCOTATION=[UBE2J2|hg19|chr1|1203938|1203938|INTRON||SNP|T|T|C|g.chr1:1203938T>C|ENST00000400930.4|-|||c.e2+566A>G|||0.5985037406483791|AGGCACTCACTGGGCAGAGCA|UBE2J2_ENST00000349431.6_INTRON/UBE2J2_ENST00000400929.2_INTRON/UBE2J2_ENST00000360466.2_INTRON/UBE2J2_ENST00000347370.2_INTRON/UBE2J2_ENST00000348298.7_INTRON/UBE2J2_ENST00000339385.6_FIVE_PRIME_FLANK/UBE2J2_ENST00000491779.1_INTRON|||||||||||||||||||||||||178|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_194315.1|NP_919296.1|HGNC:19268|ubiquitin_%20_conjugating_%20_enzyme_%20_E2_%20_J2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ubiquitin-conjugating_%20_enzyme_%20_E2_%2C__%20_J2_%20_(UBC6_%20_homolog_%2C__%20_yeast)"_%2C__%20_"ubiquitin-conjugating_%20_enzyme_%20_E2_%2C__%20_J2"|Ubc6p_%2C__%20_NCUBE2||1p36.33|2016-03-14||2016-03-14|AF296658||118424|ENSG00000160087|11278356|NM_058167|102|Ubiquitin_%20_conjugating_%20_enzymes_%20_E2|CCDS14_%2C__%20_CCDS15_%2C__%20_CCDS16|OTTHUMG00000001911|118424||NM_058167|Q8N2K1|ENSG00000160087|uc001adp.4|UB2J2_HUMAN||A8MYC7_%7C_Q504T9_%7C_Q96N26_%7C_Q96T84|Q8N2K1|protein_%20_ubiquitination_%20_(GO:0016567)_%7C_response_%20_to_%20_unfolded_%20_protein_%20_(GO:0006986)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|acid-amino_%20_acid_%20_ligase_%20_activity_%20_(GO:0016881)_%7C_ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1211292 exm-rs6685064 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1211292|1211292|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:1211292C>T|ENST00000338555.2|+||||||0.44389027431421446|ATGTTATAGGCAGATTCAAAA|UBE2J2_ENST00000347370.2_FIVE_PRIME_FLANK/UBE2J2_ENST00000348298.7_FIVE_PRIME_FLANK/UBE2J2_ENST00000349431.6_FIVE_PRIME_FLANK/UBE2J2_ENST00000360466.2_FIVE_PRIME_FLANK/SCNN1D_ENST00000379116.5_FIVE_PRIME_FLANK/UBE2J2_ENST00000400929.2_FIVE_PRIME_FLANK/UBE2J2_ENST00000400930.4_FIVE_PRIME_FLANK/RP5-902P8.10_ENST00000453732.1_LINCRNA/UBE2J2_ENST00000491779.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U38254|||HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.5695_%2C_0.4305|false|false|1||false|true|false|LOC101928895:101928895|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6685064|1211292|false|false|0|true|0|false|0.693592_%2C_0.306408|false|false|false|SNV|true|0x05010008000515053f000100|1|false|116|rs6685064|] +1 1216848 exm2059 G A . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1216848|1216848|SILENT||SNP|G|G|A|g.chr1:1216848G>A|ENST00000379116.5|+|3|361|c.135G>A|c.(133-135)tcG>tcA|p.S45S|0.6633416458852868|AGCTGGGTTCGCCCCACCCCA|SCNN1D_ENST00000338555.2_FIVE_PRIME_UTR/SCNN1D_ENST00000325425.8_FIVE_PRIME_FLANK/SCNN1D_ENST00000400928.3_FIVE_PRIME_FLANK/SCNN1D_ENST00000467651.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.9928_%2C_0.007188|false|false|1||false|false|false|SCNN1D:6339|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|34385715|1216848|true|false|0|true|0|true|0.9932_%2C_0.00679992|false|false|false|SNV|true|0x050100000305040536000100|1|false|126|rs34385715|] +1 1219456 exm2067 G C . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1219456|1219456|SILENT||SNP|G|G|C|g.chr1:1219456G>C|ENST00000379116.5|+|5|676|c.450G>C|c.(448-450)ggG>ggC|p.G150G|0.685785536159601|CACACGGGGGGGCTCTCACCT|SCNN1D_ENST00000338555.2_MISSENSE_p.G18R/SCNN1D_ENST00000325425.8_SILENT_p.G52G/SCNN1D_ENST00000400928.3_MISSENSE_p.G18R/SCNN1D_ENST00000467651.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|SCNN1D:6339|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|199854533|1219456|false|false|0|false|0|true|0.999347_%2C_0.000653101|false|false|false|SNV|true|0x050000000305040426000100|1|false|137|rs199854533|] +1 1220954 exm2070 G A . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1220954|1220954|SILENT||SNP|G|G|A|g.chr1:1220954G>A|ENST00000379116.5|+|6|694|c.468G>A|c.(466-468)tcG>tcA|p.S156S|0.6458852867830424|TGGGTAGATCGCCTGGGCCTG|SCNN1D_ENST00000325425.8_SILENT_p.S58S/SCNN1D_ENST00000338555.2_INTRON/SCNN1D_ENST00000400928.3_INTRON/SCNN1D_ENST00000467651.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.5573_%2C_0.4427|false|false|1||false|true|false|SCNN1D:6339|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|12751100|1220954|false|false|0|true|0|true|0.668315_%2C_0.331685|false|false|false|SNV|true|0x05010008030515053e000100|1|false|121|rs12751100|] +1 1221530 exm2090 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1221530|1221530|SILENT||SNP|C|C|T|g.chr1:1221530C>T|ENST00000379116.5|+|7|1009|c.783C>T|c.(781-783)gtC>gtT|p.V261V|0.6932668329177057|GAGCCCTGGTCGCGCTCTGCT|SCNN1D_ENST00000338555.2_SILENT_p.V97V/SCNN1D_ENST00000325425.8_SILENT_p.V163V/SCNN1D_ENST00000400928.3_SILENT_p.V97V|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.999_%2C_._%2C_0.0009984|false|false|0||false|false|false|SCNN1D:6339|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|146792102|1221530|false|true|0|false|0|true|0.998798_%2C_._%2C_0.00120209|false|false|false|SNV|true|0x050200000305040436000100|1|false|134|rs146792102|] +1 1221657 exm2100 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1221657|1221657|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:1221657C>T|ENST00000379116.5|+|7|1136|c.910C>T|c.(910-912)Cgg>Tgg|p.R304W|0.6907730673316709|GAACCCACGTCGGTGAGGGCC|SCNN1D_ENST00000338555.2_SPLICE_SITE_p.R140W/SCNN1D_ENST00000325425.8_SPLICE_SITE_p.R206W/SCNN1D_ENST00000400928.3_SPLICE_SITE_p.R140W|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.9996_%2C_0.0003994|false|false|1||false|false|false|SCNN1D:6339|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|139294800|1221657|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000a05040426000100|1|false|137|rs139294800|] +1 1222220 exm2106 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1222220|1222220|SILENT||SNP|C|C|T|g.chr1:1222220C>T|ENST00000379116.5|+|8|1210|c.984C>T|c.(982-984)aaC>aaT|p.N328N|0.6807980049875312|CCCTGTACAACGTCAACCTCA|SCNN1D_ENST00000338555.2_SILENT_p.N164N/SCNN1D_ENST00000325425.8_SILENT_p.N230N/SCNN1D_ENST00000400928.3_SILENT_p.N164N|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false||false|false|||false|false|false|SCNN1D:6339|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|140233249|1222220|false|true|0|false|0|true|0.999966_%2C_._%2C_3.4343e-005|false|false|false|SNV|true|0x050200000b05040402000100|1|false|134|rs140233249|] +1 1222519 exm2129 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1222519|1222519|NONSENSE||SNP|C|C|T|g.chr1:1222519C>T|ENST00000379116.5|+|9|1376|c.1150C>T|c.(1150-1152)Cga>Tga|p.R384*|0.6807980049875312|CTGCTTTTACCGAGGCTACAC|SCNN1D_ENST00000338555.2_NONSENSE_p.R220*/SCNN1D_ENST00000325425.8_NONSENSE_p.R286*/SCNN1D_ENST00000400928.3_NONSENSE_p.R220*|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|SCNN1D:6339|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|148588796|1222519|false|true|0|true|0|false|0.998661_%2C_0.00133938|false|false|false|SNV|true|0x050300000605040436000100|1|false|134|rs148588796|] +1 1222596 exm2135 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1222596|1222596|SILENT||SNP|C|C|T|g.chr1:1222596C>T|ENST00000379116.5|+|9|1453|c.1227C>T|c.(1225-1227)ccC>ccT|p.P409P|0.6783042394014963|CCCTGCTGCCCGCGGCATGGG|SCNN1D_ENST00000338555.2_SILENT_p.P245P/SCNN1D_ENST00000325425.8_SILENT_p.P311P/SCNN1D_ENST00000400928.3_SILENT_p.P245P|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false||false|false|||false|false|false|SCNN1D:6339|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|146976973|1222596|false|true|0|false|0|true|0.999038_%2C_0.000961671|false|false|false|SNV|true|0x050200000305040402000100|1|false|134|rs146976973|] +1 1226777 exm2258 G A . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1226777|1226777|SILENT||SNP|G|G|A|g.chr1:1226777G>A|ENST00000379116.5|+|18|2422|c.2196G>A|c.(2194-2196)gcG>gcA|p.A732A|0.7082294264339152|TCCGCAGGGCGTGGTTCTCCT|SCNN1D_ENST00000338555.2_SILENT_p.A568A/SCNN1D_ENST00000325425.8_SILENT_p.A634A/SCNN1D_ENST00000400928.3_SILENT_p.A568A|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false||false|false|||false|false|false|SCNN1D:6339|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201221572|1226777|false|false|0|false|0|true|0.99976_%2C_0.000240418|false|false|false|SNV|true|0x050000000305040402000100|1|false|137|rs201221572|] +1 1226867 exm2267 G A . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1226867|1226867|SILENT||SNP|G|G|A|g.chr1:1226867G>A|ENST00000379116.5|+|18|2512|c.2286G>A|c.(2284-2286)acG>acA|p.T762T|0.683291770573566|CAGGCGGCACGTCAGATGACC|SCNN1D_ENST00000338555.2_SILENT_p.T598T/SCNN1D_ENST00000325425.8_SILENT_p.T664T/SCNN1D_ENST00000400928.3_SILENT_p.T598T|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|SCNN1D:6339|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|200302126|1226867|false|false|0|false|0|true|0.999622_%2C_0.000377799|false|false|false|SNV|true|0x050000000305040426000100|1|false|137|rs200302126|] +1 1227897 rs3737721 A G . PASS FUNCOTATION=[ACAP3|hg19|chr1|1227897|1227897|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:1227897A>G|ENST00000354700.5|-|24|||||0.655860349127182|CTTCAGGGTCACAGGCAGCAG|ACAP3_ENST00000353662.3_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_030649.2|NP_085152.2|HGNC:16754|ArfGAP_%20_with_%20_coiled-coil_%2C__%20_ankyrin_%20_repeat_%20_and_%20_PH_%20_domains_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CENTB5|"centaurin_%2C__%20_beta_%20_5"|KIAA1716||1p36.33|2016-10-05|2008-09-22|2008-09-22|AF411981||116983|ENSG00000131584||NM_030649|403_%7C_682_%7C_395_%7C_1291|Ankyrin_%20_repeat_%20_domain_%20_containing_%7C_Pleckstrin_%20_homology_%20_domain_%20_containing_%7C_ArfGAPs_%7C_BAR-PH_%20_domain_%20_containing|CCDS19|OTTHUMG00000002235|116983||NM_030649|Q96P50|ENSG00000131584|uc001aeb.3|ACAP3_HUMAN||B1AMF5_%7C_Q5TA42_%7C_Q5TA43_%7C_Q86UT3_%7C_Q9BSR9_%7C_Q9C0E7|Q96P50|regulation_%20_of_%20_ARF_%20_GTPase_%20_activity_%20_(GO:0032312)||ARF_%20_GTPase_%20_activator_%20_activity_%20_(GO:0008060)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.772_%2C_0.228|false|false|1||false|true|false|SCNN1D:6339_%7C_ACAP3:116983|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3737721|1227897|true|false|0|true|0|false|0.918916_%2C_0.0810839|false|true|false|SNV|true|0x05010088000515053f000100|1|false|107|rs3737721|] +1 1246013 exm2497 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246013|1246013|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246013G>A|ENST00000379031.5|+|||c.e6-1G>A|c.e6-1||0.6109725685785536|TATTTTTCCAGGAAGCTGCGG|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_153339.1|NP_699170.1|HGNC:26914|pseudouridylate_%20_synthase-like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ90811||1p36.33|2015-08-25|||AK027721||126789|ENSG00000169972|12477932|NM_153339|||CCDS20|OTTHUMG00000003361|126789||NM_153339|Q8N0Z8|ENSG00000169972|uc001aed.4|PUSL1_HUMAN||B4DP76_%7C_Q5TA41|Q8N0Z8|pseudouridine_%20_synthesis_%20_(GO:0001522)_%7C_tRNA_%20_processing_%20_(GO:0008033)||pseudouridine_%20_synthase_%20_activity_%20_(GO:0009982)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1246013 exm2497 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246013|1246013|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246013G>A|ENST00000379031.5|+|||c.e6-1G>A|c.e6-1||0.6109725685785536|TATTTTTCCAGGAAGCTGCGG|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_153339.1|NP_699170.1|HGNC:26914|pseudouridylate_%20_synthase-like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ90811||1p36.33|2015-08-25|||AK027721||126789|ENSG00000169972|12477932|NM_153339|||CCDS20|OTTHUMG00000003361|126789||NM_153339|Q8N0Z8|ENSG00000169972|uc001aed.4|PUSL1_HUMAN||B4DP76_%7C_Q5TA41|Q8N0Z8|pseudouridine_%20_synthesis_%20_(GO:0001522)_%7C_tRNA_%20_processing_%20_(GO:0008033)||pseudouridine_%20_synthase_%20_activity_%20_(GO:0009982)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1246013 newrs143765035 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246013|1246013|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246013G>A|ENST00000379031.5|+|||c.e6-1G>A|c.e6-1||0.6109725685785536|TATTTTTCCAGGAAGCTGCGG|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_153339.1|NP_699170.1|HGNC:26914|pseudouridylate_%20_synthase-like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ90811||1p36.33|2015-08-25|||AK027721||126789|ENSG00000169972|12477932|NM_153339|||CCDS20|OTTHUMG00000003361|126789||NM_153339|Q8N0Z8|ENSG00000169972|uc001aed.4|PUSL1_HUMAN||B4DP76_%7C_Q5TA41|Q8N0Z8|pseudouridine_%20_synthesis_%20_(GO:0001522)_%7C_tRNA_%20_processing_%20_(GO:0008033)||pseudouridine_%20_synthase_%20_activity_%20_(GO:0009982)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1246013 newrs143765035 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246013|1246013|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246013G>A|ENST00000379031.5|+|||c.e6-1G>A|c.e6-1||0.6109725685785536|TATTTTTCCAGGAAGCTGCGG|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_153339.1|NP_699170.1|HGNC:26914|pseudouridylate_%20_synthase-like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ90811||1p36.33|2015-08-25|||AK027721||126789|ENSG00000169972|12477932|NM_153339|||CCDS20|OTTHUMG00000003361|126789||NM_153339|Q8N0Z8|ENSG00000169972|uc001aed.4|PUSL1_HUMAN||B4DP76_%7C_Q5TA41|Q8N0Z8|pseudouridine_%20_synthesis_%20_(GO:0001522)_%7C_tRNA_%20_processing_%20_(GO:0008033)||pseudouridine_%20_synthase_%20_activity_%20_(GO:0009982)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1246068 variant.153 G T . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246068|1246068|SPLICE_SITE|MISSENSE|SNP|G|G|T|g.chr1:1246068G>T|ENST00000379031.5|+|6|776|c.699G>T|c.(697-699)caG>caT|p.Q233H|0.6259351620947631|TGTATAGACAGGTAGGCTCTG|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_153339.1|NP_699170.1|HGNC:26914|pseudouridylate_%20_synthase-like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ90811||1p36.33|2015-08-25|||AK027721||126789|ENSG00000169972|12477932|NM_153339|||CCDS20|OTTHUMG00000003361|126789||NM_153339|Q8N0Z8|ENSG00000169972|uc001aed.4|PUSL1_HUMAN||B4DP76_%7C_Q5TA41|Q8N0Z8|pseudouridine_%20_synthesis_%20_(GO:0001522)_%7C_tRNA_%20_processing_%20_(GO:0008033)||pseudouridine_%20_synthase_%20_activity_%20_(GO:0009982)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1246069 variant.154 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246069|1246069|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246069G>A|ENST00000379031.5|+|||c.e6+1G>A|c.e6+1||0.6259351620947631|GTATAGACAGGTAGGCTCTGT|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_153339.1|NP_699170.1|HGNC:26914|pseudouridylate_%20_synthase-like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ90811||1p36.33|2015-08-25|||AK027721||126789|ENSG00000169972|12477932|NM_153339|||CCDS20|OTTHUMG00000003361|126789||NM_153339|Q8N0Z8|ENSG00000169972|uc001aed.4|PUSL1_HUMAN||B4DP76_%7C_Q5TA41|Q8N0Z8|pseudouridine_%20_synthesis_%20_(GO:0001522)_%7C_tRNA_%20_processing_%20_(GO:0008033)||pseudouridine_%20_synthase_%20_activity_%20_(GO:0009982)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1246069 variant.154 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246069|1246069|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246069G>A|ENST00000379031.5|+|||c.e6+1G>A|c.e6+1||0.6259351620947631|GTATAGACAGGTAGGCTCTGT|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_153339.1|NP_699170.1|HGNC:26914|pseudouridylate_%20_synthase-like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ90811||1p36.33|2015-08-25|||AK027721||126789|ENSG00000169972|12477932|NM_153339|||CCDS20|OTTHUMG00000003361|126789||NM_153339|Q8N0Z8|ENSG00000169972|uc001aed.4|PUSL1_HUMAN||B4DP76_%7C_Q5TA41|Q8N0Z8|pseudouridine_%20_synthesis_%20_(GO:0001522)_%7C_tRNA_%20_processing_%20_(GO:0008033)||pseudouridine_%20_synthase_%20_activity_%20_(GO:0009982)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1246450 exm2520 C T . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246450|1246450|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1246450C>T|ENST00000379031.5|+|7|938|c.861C>T|c.(859-861)ctC>ctT|p.L287L|0.655860349127182|ACGGGAACCTCGGTAAGAAAA|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_153339.1|NP_699170.1|HGNC:26914|pseudouridylate_%20_synthase-like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ90811||1p36.33|2015-08-25|||AK027721||126789|ENSG00000169972|12477932|NM_153339|||CCDS20|OTTHUMG00000003361|126789||NM_153339|Q8N0Z8|ENSG00000169972|uc001aed.4|PUSL1_HUMAN||B4DP76_%7C_Q5TA41|Q8N0Z8|pseudouridine_%20_synthesis_%20_(GO:0001522)_%7C_tRNA_%20_processing_%20_(GO:0008033)||pseudouridine_%20_synthase_%20_activity_%20_(GO:0009982)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1246450 exm2520 C T . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246450|1246450|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1246450C>T|ENST00000379031.5|+|7|938|c.861C>T|c.(859-861)ctC>ctT|p.L287L|0.655860349127182|ACGGGAACCTCGGTAAGAAAA|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_153339.1|NP_699170.1|HGNC:26914|pseudouridylate_%20_synthase-like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ90811||1p36.33|2015-08-25|||AK027721||126789|ENSG00000169972|12477932|NM_153339|||CCDS20|OTTHUMG00000003361|126789||NM_153339|Q8N0Z8|ENSG00000169972|uc001aed.4|PUSL1_HUMAN||B4DP76_%7C_Q5TA41|Q8N0Z8|pseudouridine_%20_synthesis_%20_(GO:0001522)_%7C_tRNA_%20_processing_%20_(GO:0008033)||pseudouridine_%20_synthase_%20_activity_%20_(GO:0009982)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1246451 newrs140444081 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246451|1246451|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1246451G>A|ENST00000379031.5|+|7|939|c.862G>A|c.(862-864)Ggt>Agt|p.G288S|0.6533665835411472|CGGGAACCTCGGTAAGAAAAA|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_153339.1|NP_699170.1|HGNC:26914|pseudouridylate_%20_synthase-like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ90811||1p36.33|2015-08-25|||AK027721||126789|ENSG00000169972|12477932|NM_153339|||CCDS20|OTTHUMG00000003361|126789||NM_153339|Q8N0Z8|ENSG00000169972|uc001aed.4|PUSL1_HUMAN||B4DP76_%7C_Q5TA41|Q8N0Z8|pseudouridine_%20_synthesis_%20_(GO:0001522)_%7C_tRNA_%20_processing_%20_(GO:0008033)||pseudouridine_%20_synthase_%20_activity_%20_(GO:0009982)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1247626 exm2249776 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1247626|1247626|SILENT||SNP|G|G|A|g.chr1:1247626G>A|ENST00000435064.1|-|15|1670|c.1587C>T|c.(1585-1587)cgC>cgT|p.R529R|0.6783042394014963|GGCTGTAGACGCGCAATGCCG|CPSF3L_ENST00000421495.2_SILENT_p.R271R/CPSF3L_ENST00000450926.2_SILENT_p.R507R/CPSF3L_ENST00000411962.1_SILENT_p.R431R/CPSF3L_ENST00000419704.1_SILENT_p.R428R/CPSF3L_ENST00000540437.1_SILENT_p.R535R/CPSF3L_ENST00000545578.1_SILENT_p.R500R/ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|201688337|1247626|false|false|0|false|0|true||false|false|false|SNV|true|0x050000040305040426000100|1|false|137|rs201688337|] +1 1247820 exm2562 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1247820|1247820|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1247820G>A|ENST00000435064.1|-|14|1547|c.1464C>T|c.(1462-1464)agC>agT|p.S488S|0.6708229426433915|TGGCACTCACGCTGTCCTTCA|CPSF3L_ENST00000421495.2_SPLICE_SITE_p.S230S/CPSF3L_ENST00000450926.2_SPLICE_SITE_p.S466S/CPSF3L_ENST00000411962.1_SPLICE_SITE_p.S390S/CPSF3L_ENST00000419704.1_SPLICE_SITE_p.S387S/CPSF3L_ENST00000540437.1_SPLICE_SITE_p.S494S/CPSF3L_ENST00000545578.1_SPLICE_SITE_p.S459S/ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|148274722|1247820|false|false|0|false|0|true|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x0500000c0305040402000100|1|false|134|rs148274722|] +1 1247820 exm2562 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1247820|1247820|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1247820G>A|ENST00000435064.1|-|14|1547|c.1464C>T|c.(1462-1464)agC>agT|p.S488S|0.6708229426433915|TGGCACTCACGCTGTCCTTCA|CPSF3L_ENST00000421495.2_SPLICE_SITE_p.S230S/CPSF3L_ENST00000450926.2_SPLICE_SITE_p.S466S/CPSF3L_ENST00000411962.1_SPLICE_SITE_p.S390S/CPSF3L_ENST00000419704.1_SPLICE_SITE_p.S387S/CPSF3L_ENST00000540437.1_SPLICE_SITE_p.S494S/CPSF3L_ENST00000545578.1_SPLICE_SITE_p.S459S/ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|148274722|1247820|false|false|0|false|0|true|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x0500000c0305040402000100|1|false|134|rs148274722|] +1 1247826 exm2249777 C T . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1247826|1247826|SILENT||SNP|C|C|T|g.chr1:1247826C>T|ENST00000435064.1|-|14|1541|c.1458G>A|c.(1456-1458)aaG>aaA|p.K486K|0.6733167082294265|TCACGCTGTCCTTCATGATCA|CPSF3L_ENST00000421495.2_SILENT_p.K228K/CPSF3L_ENST00000450926.2_SILENT_p.K464K/CPSF3L_ENST00000411962.1_SILENT_p.K388K/CPSF3L_ENST00000419704.1_SILENT_p.K385K/CPSF3L_ENST00000540437.1_SILENT_p.K492K/CPSF3L_ENST00000545578.1_SILENT_p.K457K/ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|202118836|1247826|false|false|0|false|0|true|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x0500000c0305040402000100|1|false|137|rs202118836|] +1 1248046 exm2249779 C T . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1248046|1248046|SILENT||SNP|C|C|T|g.chr1:1248046C>T|ENST00000435064.1|-|13|1412|c.1329G>A|c.(1327-1329)acG>acA|p.T443T|0.6907730673316709|GCAGCGTCACCGTCTCGCCAT|CPSF3L_ENST00000421495.2_SILENT_p.T185T/CPSF3L_ENST00000450926.2_SILENT_p.T421T/CPSF3L_ENST00000411962.1_SILENT_p.T345T/CPSF3L_ENST00000419704.1_SILENT_p.T342T/CPSF3L_ENST00000540437.1_SILENT_p.T449T/CPSF3L_ENST00000545578.1_SILENT_p.T414T/ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|147953341|1248046|false|true|0|false|0|true|0.999554_%2C_0.000446459|false|false|false|SNV|true|0x050200020305040426000100|1|false|134|rs147953341|] +1 1248329 exm2590 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1248329|1248329|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1248329G>A|ENST00000435064.1|-|12|1215|c.1132C>T|c.(1132-1134)Ctg>Ttg|p.L378L|0.6683291770573566|TTGACCTCCAGCTACAGAGGC|CPSF3L_ENST00000421495.2_SPLICE_SITE_p.L120L/CPSF3L_ENST00000450926.2_SPLICE_SITE_p.L356L/CPSF3L_ENST00000411962.1_SPLICE_SITE_p.L280L/CPSF3L_ENST00000419704.1_SPLICE_SITE_p.L277L/CPSF3L_ENST00000540437.1_SPLICE_SITE_p.L384L/CPSF3L_ENST00000545578.1_SPLICE_SITE_p.L349L/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false|0.9982_%2C_0.001797|false|false|1||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|56104163|1248329|false|true|0|true|0|true|0.997321_%2C_0.00267876|false|false|false|SNV|true|0x050300020305040436000100|1|false|129|rs56104163|] +1 1248329 exm2590 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1248329|1248329|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1248329G>A|ENST00000435064.1|-|12|1215|c.1132C>T|c.(1132-1134)Ctg>Ttg|p.L378L|0.6683291770573566|TTGACCTCCAGCTACAGAGGC|CPSF3L_ENST00000421495.2_SPLICE_SITE_p.L120L/CPSF3L_ENST00000450926.2_SPLICE_SITE_p.L356L/CPSF3L_ENST00000411962.1_SPLICE_SITE_p.L280L/CPSF3L_ENST00000419704.1_SPLICE_SITE_p.L277L/CPSF3L_ENST00000540437.1_SPLICE_SITE_p.L384L/CPSF3L_ENST00000545578.1_SPLICE_SITE_p.L349L/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false|0.9982_%2C_0.001797|false|false|1||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|56104163|1248329|false|true|0|true|0|true|0.997321_%2C_0.00267876|false|false|false|SNV|true|0x050300020305040436000100|1|false|129|rs56104163|] +1 1249193 indel.166 C CGCAA . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1249193|1249194|FRAME_SHIFT_INS||INS|-|-|GCAA|g.chr1:1249193_1249194insGCAA|ENST00000435064.1|-|9|959|c.875_876insTTGC|c.(874-876)aagfs|p.K292fs|0.6325|CACGAAAGTCTTGCGGATCT|CPSF3L_ENST00000421495.2_FRAME_SHIFT_INS_p.K34fs/CPSF3L_ENST00000450926.2_FRAME_SHIFT_INS_p.K270fs/CPSF3L_ENST00000411962.1_FRAME_SHIFT_INS_p.K194fs/CPSF3L_ENST00000419704.1_FRAME_SHIFT_INS_p.K191fs/CPSF3L_ENST00000540437.1_FRAME_SHIFT_INS_p.K298fs/CPSF3L_ENST00000545578.1_FRAME_SHIFT_INS_p.K263fs/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|true|752230074|1249193|false|false|0|false|0|false||false|false|false|DIV|false|0x050000021205000402000200|1|false|144|rs752230074|] +1 1250794 variant.168 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1250794|1250794|NONSENSE||SNP|G|G|A|g.chr1:1250794G>A|ENST00000435064.1|-|6|636|c.553C>T|c.(553-555)Cga>Tga|p.R185*|0.6084788029925187|CCTAAGTGTCGGTCTGGGGTC|CPSF3L_ENST00000450926.2_NONSENSE_p.R163*/CPSF3L_ENST00000411962.1_NONSENSE_p.R87*/CPSF3L_ENST00000419704.1_NONSENSE_p.R84*/CPSF3L_ENST00000421495.2_FIVE_PRIME_UTR/CPSF3L_ENST00000540437.1_NONSENSE_p.R191*/CPSF3L_ENST00000545578.1_NONSENSE_p.R156*/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|false|false|false|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|373723769|1250794|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000e05040402000100|1|false|138|rs373723769|] +1 1254255 psy_rs62623580 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1254255|1254255|INTRON||SNP|G|G|A|g.chr1:1254255G>A|ENST00000435064.1|-|||c.e4-421C>T|||0.49875311720698257|CTTCTTCCCTGACCCACACCC|CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000450926.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_INTRON/CPSF3L_ENST00000545578.1_INTRON/RP5-890O3.9_ENST00000444968.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false|0.9373_%2C_0.0627|false|false|1||false|true|false|CPSF3L:54973|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|62623580|1254255|true|false|0|true|0|false|0.946974_%2C_0.0530256|false|false|false|SNV|true|0x0501000a0005150436000100|1|false|129|rs62623580|] +1 1254678 exm2656 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1254678|1254678|NONSENSE||SNP|G|G|A|g.chr1:1254678G>A|ENST00000435064.1|-|4|510|c.427C>T|c.(427-429)Cag>Tag|p.Q143*|0.628428927680798|AACCTGACCTGGACCGTCTGG|CPSF3L_ENST00000450926.2_NONSENSE_p.Q143*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.Q149*/CPSF3L_ENST00000545578.1_NONSENSE_p.Q114*/RP5-890O3.9_ENST00000444968.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|200207309|1254678|false|true|0|false|0|false||false|false|false|SNV|false|0x0502000a0605000402000100|1|false|137|rs200207309|] +1 1254694 exm2249782 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1254694|1254694|SILENT||SNP|G|G|A|g.chr1:1254694G>A|ENST00000435064.1|-|4|494|c.411C>T|c.(409-411)caC>caT|p.H137H|0.628428927680798|TCTGGTGGAGGTGGACAGCCA|CPSF3L_ENST00000450926.2_SILENT_p.H137H/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_SILENT_p.H143H/CPSF3L_ENST00000545578.1_SILENT_p.H108H/RP5-890O3.9_ENST00000444968.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|145964828|1254694|false|true|0|false|0|true||false|false|false|SNV|true|0x0502000a0305040402000100|1|false|134|rs145964828|] +1 1256453 exm2676 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1256453|1256453|NONSENSE||SNP|G|G|A|g.chr1:1256453G>A|ENST00000435064.1|-|2|132|c.49C>T|c.(49-51)Cga>Tga|p.R17*|0.6458852867830424|ATGCAGCTTCGGCCCACGTCC|CPSF3L_ENST00000450926.2_NONSENSE_p.R17*/CPSF3L_ENST00000419704.1_NONSENSE_p.R17*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.R23*/CPSF3L_ENST00000545578.1_FIVE_PRIME_UTR/GLTPD1_ENST00000343938.4_FIVE_PRIME_FLANK/RP5-890O3.9_ENST00000444968.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK/GLTPD1_ENST00000464957.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|CPSF3L:54973|false|true|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|200498230|1256453|false|true|0|false|0|false|0.999897_%2C_0.000103029|false|false|true|SNV|true|0x050200480605040436000100|1|false|137|rs200498230|] +1 1258246 rs3845293 A C . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1258246|1258246|INTRON||SNP|A|A|C|g.chr1:1258246A>C|ENST00000435064.1|-|||c.e1-1715T>G|||0.6359102244389028|GGAAGCGGTGAAACAGGACTT|CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000450926.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_INTRON/CPSF3L_ENST00000545578.1_INTRON/GLTPD1_ENST00000343938.4_FIVE_PRIME_FLANK/RP5-890O3.9_ENST00000444968.1_FIVE_PRIME_FLANK/GLTPD1_ENST00000464957.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false|0.2829_%2C_0.7171_%2C_.|false|false|1||false|true|true|CPTP:80772_%7C_CPSF3L:54973|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3845293|1258246|false|false|0|true|0|false||false|false|false|SNV|true|0x0501000a0005170537000100|1|false|108|rs3845293|] +1 1264539 rs307354 G C . PASS FUNCOTATION=[TAS1R3|hg19|chr1|1264539|1264539|FIVE_PRIME_FLANK||SNP|G|G|C|g.chr1:1264539G>C|ENST00000339381.5|+||||||0.6059850374064838|ACAAGAGAGAGACAGAGTCAC|CPSF3L_ENST00000411962.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000419704.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000421495.2_FIVE_PRIME_FLANK/CPSF3L_ENST00000435064.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000450926.2_FIVE_PRIME_FLANK/CPSF3L_ENST00000540437.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000545578.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||22|central_nervous_system(22)|||||||BK000152|NM_152228.1|NP_689414.1|HGNC:15661|taste_%20_1_%20_receptor_%20_member_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"taste_%20_receptor_%2C__%20_type_%20_1_%2C__%20_member_%20_3"|T1R3||1p36.33|2016-10-05||2015-12-16|AC026283||83756|ENSG00000169962|11319557||1161|Taste_%20_1_%20_receptors|CCDS30556|OTTHUMG00000003071|83756|605865|NM_152228|Q7RTX0|ENSG00000169962|uc010nyk.3|TS1R3_HUMAN||Q5TA49_%7C_Q8NGW9|Q7RTX0|detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_sweet_%20_taste_%20_(GO:0001582)_%7C_G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)_%7C_sensory_%20_perception_%20_of_%20_sweet_%20_taste_%20_(GO:0050916)_%7C_sensory_%20_perception_%20_of_%20_umami_%20_taste_%20_(GO:0050917)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|protein_%20_heterodimerization_%20_activity_%20_(GO:0046982)_%7C_taste_%20_receptor_%20_activity_%20_(GO:0008527)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1275882 exm3075 G A . PASS FUNCOTATION=[DVL1|hg19|chr1|1275882|1275882|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1275882G>A|ENST00000378888.5|-|6|892|c.607C>T|c.(607-609)Ctc>Ttc|p.L203F|0.6334164588528678|GAGCTGCTGAGCCTGGGAACA|DVL1_ENST00000378891.5_SPLICE_SITE_p.L203F|||||||||||||||||||||||||683|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL139287|||HGNC:3084|dishevelled_%20_segment_%20_polarity_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dishevelled_%20_1_%20_(homologous_%20_to_%20_Drosophila_%20_dsh)"_%2C__%20_"dishevelled_%2C__%20_dsh_%20_homolog_%20_1_%20_(Drosophila)"|||1p36.33|2016-10-05||2013-05-22|AF006011||1855|ENSG00000107404|8817329|NM_004421|505_%7C_1220|Dishevelled_%20_segment_%20_polarity_%20_proteins_%7C_PDZ_%20_domain_%20_containing|CCDS22_%2C__%20_CCDS81252|OTTHUMG00000003069|1855|601365|NM_004421|O14640|ENSG00000107404|uc002quu.4|DVL1_HUMAN||Q5TA33_%7C_Q5TA35|O14640|axon_%20_extension_%20_(GO:0048675)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0060070)_%7C_cochlea_%20_morphogenesis_%20_(GO:0090103)_%7C_collateral_%20_sprouting_%20_(GO:0048668)_%7C_convergent_%20_extension_%20_(GO:0060026)_%7C_convergent_%20_extension_%20_involved_%20_in_%20_neural_%20_plate_%20_elongation_%20_(GO:0022007)_%7C_cytoplasmic_%20_microtubule_%20_organization_%20_(GO:0031122)_%7C_dendrite_%20_morphogenesis_%20_(GO:0048813)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_neural_%20_tube_%20_development_%20_(GO:0021915)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_secretion_%20_(GO:0007269)_%7C_planar_%20_cell_%20_polarity_%20_pathway_%20_involved_%20_in_%20_neural_%20_tube_%20_closure_%20_(GO:0090179)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_projection_%20_development_%20_(GO:0010976)_%7C_positive_%20_regulation_%20_of_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0032436)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_prepulse_%20_inhibition_%20_(GO:0060134)_%7C_protein_%20_localization_%20_to_%20_microtubule_%20_(GO:0035372)_%7C_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:0034504)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_regulation_%20_of_%20_neurotransmitter_%20_levels_%20_(GO:0001505)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)_%7C_social_%20_behavior_%20_(GO:0035176)_%7C_synapse_%20_organization_%20_(GO:0050808)_%7C_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006366)_%7C_Wnt_%20_signaling_%20_pathway_%2C__%20_planar_%20_cell_%20_polarity_%20_pathway_%20_(GO:0060071)|axon_%20_(GO:0030424)_%7C_cell_%20_cortex_%20_(GO:0005938)_%7C_clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_cytoplasmic_%20_membrane-bounded_%20_vesicle_%20_(GO:0016023)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_dendrite_%20_(GO:0030425)_%7C_growth_%20_cone_%20_(GO:0030426)_%7C_microtubule_%20_(GO:0005874)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|enzyme_%20_binding_%20_(GO:0019899)_%7C_frizzled_%20_binding_%20_(GO:0005109)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rac_%20_GTPase_%20_binding_%20_(GO:0048365)||||true|false|0.9992_%2C_0.0007987_%2C_.|false|false|1||false|false|false|MIR6808:102466740_%7C_DVL1:1855|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|148942048|1275882|false|false|0|false|0|false|0.998901_%2C_0.00106463_%2C_3.4343e-005|false|false|false|SNV|true|0x050000020a05040436000100|1|false|134|rs148942048|] +1 1275883 exm3076 C T . PASS FUNCOTATION=[DVL1|hg19|chr1|1275883|1275883|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1275883C>T|ENST00000378888.5|-|6|891|c.606G>A|c.(604-606)agG>agA|p.R202R|0.6334164588528678|AGCTGCTGAGCCTGGGAACAG|DVL1_ENST00000378891.5_SPLICE_SITE_p.R202R|||||||||||||||||||||||||683|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL139287|||HGNC:3084|dishevelled_%20_segment_%20_polarity_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dishevelled_%20_1_%20_(homologous_%20_to_%20_Drosophila_%20_dsh)"_%2C__%20_"dishevelled_%2C__%20_dsh_%20_homolog_%20_1_%20_(Drosophila)"|||1p36.33|2016-10-05||2013-05-22|AF006011||1855|ENSG00000107404|8817329|NM_004421|505_%7C_1220|Dishevelled_%20_segment_%20_polarity_%20_proteins_%7C_PDZ_%20_domain_%20_containing|CCDS22_%2C__%20_CCDS81252|OTTHUMG00000003069|1855|601365|NM_004421|O14640|ENSG00000107404|uc002quu.4|DVL1_HUMAN||Q5TA33_%7C_Q5TA35|O14640|axon_%20_extension_%20_(GO:0048675)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0060070)_%7C_cochlea_%20_morphogenesis_%20_(GO:0090103)_%7C_collateral_%20_sprouting_%20_(GO:0048668)_%7C_convergent_%20_extension_%20_(GO:0060026)_%7C_convergent_%20_extension_%20_involved_%20_in_%20_neural_%20_plate_%20_elongation_%20_(GO:0022007)_%7C_cytoplasmic_%20_microtubule_%20_organization_%20_(GO:0031122)_%7C_dendrite_%20_morphogenesis_%20_(GO:0048813)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_neural_%20_tube_%20_development_%20_(GO:0021915)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_secretion_%20_(GO:0007269)_%7C_planar_%20_cell_%20_polarity_%20_pathway_%20_involved_%20_in_%20_neural_%20_tube_%20_closure_%20_(GO:0090179)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_projection_%20_development_%20_(GO:0010976)_%7C_positive_%20_regulation_%20_of_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0032436)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_prepulse_%20_inhibition_%20_(GO:0060134)_%7C_protein_%20_localization_%20_to_%20_microtubule_%20_(GO:0035372)_%7C_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:0034504)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_regulation_%20_of_%20_neurotransmitter_%20_levels_%20_(GO:0001505)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)_%7C_social_%20_behavior_%20_(GO:0035176)_%7C_synapse_%20_organization_%20_(GO:0050808)_%7C_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006366)_%7C_Wnt_%20_signaling_%20_pathway_%2C__%20_planar_%20_cell_%20_polarity_%20_pathway_%20_(GO:0060071)|axon_%20_(GO:0030424)_%7C_cell_%20_cortex_%20_(GO:0005938)_%7C_clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_cytoplasmic_%20_membrane-bounded_%20_vesicle_%20_(GO:0016023)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_dendrite_%20_(GO:0030425)_%7C_growth_%20_cone_%20_(GO:0030426)_%7C_microtubule_%20_(GO:0005874)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|enzyme_%20_binding_%20_(GO:0019899)_%7C_frizzled_%20_binding_%20_(GO:0005109)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rac_%20_GTPase_%20_binding_%20_(GO:0048365)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|MIR6808:102466740_%7C_DVL1:1855|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|143175544|1275883|false|false|0|false|0|true|0.999038_%2C_0.000961605|false|false|false|SNV|true|0x050000020305040436000100|1|false|134|rs143175544|] +1 1275883 exm3076 C T . PASS FUNCOTATION=[DVL1|hg19|chr1|1275883|1275883|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1275883C>T|ENST00000378888.5|-|6|891|c.606G>A|c.(604-606)agG>agA|p.R202R|0.6334164588528678|AGCTGCTGAGCCTGGGAACAG|DVL1_ENST00000378891.5_SPLICE_SITE_p.R202R|||||||||||||||||||||||||683|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL139287|||HGNC:3084|dishevelled_%20_segment_%20_polarity_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dishevelled_%20_1_%20_(homologous_%20_to_%20_Drosophila_%20_dsh)"_%2C__%20_"dishevelled_%2C__%20_dsh_%20_homolog_%20_1_%20_(Drosophila)"|||1p36.33|2016-10-05||2013-05-22|AF006011||1855|ENSG00000107404|8817329|NM_004421|505_%7C_1220|Dishevelled_%20_segment_%20_polarity_%20_proteins_%7C_PDZ_%20_domain_%20_containing|CCDS22_%2C__%20_CCDS81252|OTTHUMG00000003069|1855|601365|NM_004421|O14640|ENSG00000107404|uc002quu.4|DVL1_HUMAN||Q5TA33_%7C_Q5TA35|O14640|axon_%20_extension_%20_(GO:0048675)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0060070)_%7C_cochlea_%20_morphogenesis_%20_(GO:0090103)_%7C_collateral_%20_sprouting_%20_(GO:0048668)_%7C_convergent_%20_extension_%20_(GO:0060026)_%7C_convergent_%20_extension_%20_involved_%20_in_%20_neural_%20_plate_%20_elongation_%20_(GO:0022007)_%7C_cytoplasmic_%20_microtubule_%20_organization_%20_(GO:0031122)_%7C_dendrite_%20_morphogenesis_%20_(GO:0048813)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_neural_%20_tube_%20_development_%20_(GO:0021915)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_secretion_%20_(GO:0007269)_%7C_planar_%20_cell_%20_polarity_%20_pathway_%20_involved_%20_in_%20_neural_%20_tube_%20_closure_%20_(GO:0090179)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_projection_%20_development_%20_(GO:0010976)_%7C_positive_%20_regulation_%20_of_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0032436)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_prepulse_%20_inhibition_%20_(GO:0060134)_%7C_protein_%20_localization_%20_to_%20_microtubule_%20_(GO:0035372)_%7C_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:0034504)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_regulation_%20_of_%20_neurotransmitter_%20_levels_%20_(GO:0001505)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)_%7C_social_%20_behavior_%20_(GO:0035176)_%7C_synapse_%20_organization_%20_(GO:0050808)_%7C_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006366)_%7C_Wnt_%20_signaling_%20_pathway_%2C__%20_planar_%20_cell_%20_polarity_%20_pathway_%20_(GO:0060071)|axon_%20_(GO:0030424)_%7C_cell_%20_cortex_%20_(GO:0005938)_%7C_clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_cytoplasmic_%20_membrane-bounded_%20_vesicle_%20_(GO:0016023)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_dendrite_%20_(GO:0030425)_%7C_growth_%20_cone_%20_(GO:0030426)_%7C_microtubule_%20_(GO:0005874)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|enzyme_%20_binding_%20_(GO:0019899)_%7C_frizzled_%20_binding_%20_(GO:0005109)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rac_%20_GTPase_%20_binding_%20_(GO:0048365)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|MIR6808:102466740_%7C_DVL1:1855|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|143175544|1275883|false|false|0|false|0|true|0.999038_%2C_0.000961605|false|false|false|SNV|true|0x050000020305040436000100|1|false|134|rs143175544|] +1 1277184 exm1707125 G A . PASS FUNCOTATION=[DVL1|hg19|chr1|1277184|1277184|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1277184G>A|ENST00000378888.5|-|5|753|c.468C>T|c.(466-468)gcC>gcT|p.A156A|0.6408977556109726|TGGTCCGGGCGGCTGTGGGGG|DVL1_ENST00000378891.5_SPLICE_SITE_p.A156A|||||||||||||||||||||||||683|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL139287|||HGNC:3084|dishevelled_%20_segment_%20_polarity_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dishevelled_%20_1_%20_(homologous_%20_to_%20_Drosophila_%20_dsh)"_%2C__%20_"dishevelled_%2C__%20_dsh_%20_homolog_%20_1_%20_(Drosophila)"|||1p36.33|2016-10-05||2013-05-22|AF006011||1855|ENSG00000107404|8817329|NM_004421|505_%7C_1220|Dishevelled_%20_segment_%20_polarity_%20_proteins_%7C_PDZ_%20_domain_%20_containing|CCDS22_%2C__%20_CCDS81252|OTTHUMG00000003069|1855|601365|NM_004421|O14640|ENSG00000107404|uc002quu.4|DVL1_HUMAN||Q5TA33_%7C_Q5TA35|O14640|axon_%20_extension_%20_(GO:0048675)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0060070)_%7C_cochlea_%20_morphogenesis_%20_(GO:0090103)_%7C_collateral_%20_sprouting_%20_(GO:0048668)_%7C_convergent_%20_extension_%20_(GO:0060026)_%7C_convergent_%20_extension_%20_involved_%20_in_%20_neural_%20_plate_%20_elongation_%20_(GO:0022007)_%7C_cytoplasmic_%20_microtubule_%20_organization_%20_(GO:0031122)_%7C_dendrite_%20_morphogenesis_%20_(GO:0048813)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_neural_%20_tube_%20_development_%20_(GO:0021915)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_secretion_%20_(GO:0007269)_%7C_planar_%20_cell_%20_polarity_%20_pathway_%20_involved_%20_in_%20_neural_%20_tube_%20_closure_%20_(GO:0090179)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_projection_%20_development_%20_(GO:0010976)_%7C_positive_%20_regulation_%20_of_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0032436)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_prepulse_%20_inhibition_%20_(GO:0060134)_%7C_protein_%20_localization_%20_to_%20_microtubule_%20_(GO:0035372)_%7C_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:0034504)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_regulation_%20_of_%20_neurotransmitter_%20_levels_%20_(GO:0001505)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)_%7C_social_%20_behavior_%20_(GO:0035176)_%7C_synapse_%20_organization_%20_(GO:0050808)_%7C_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006366)_%7C_Wnt_%20_signaling_%20_pathway_%2C__%20_planar_%20_cell_%20_polarity_%20_pathway_%20_(GO:0060071)|axon_%20_(GO:0030424)_%7C_cell_%20_cortex_%20_(GO:0005938)_%7C_clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_cytoplasmic_%20_membrane-bounded_%20_vesicle_%20_(GO:0016023)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_dendrite_%20_(GO:0030425)_%7C_growth_%20_cone_%20_(GO:0030426)_%7C_microtubule_%20_(GO:0005874)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|enzyme_%20_binding_%20_(GO:0019899)_%7C_frizzled_%20_binding_%20_(GO:0005109)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rac_%20_GTPase_%20_binding_%20_(GO:0048365)||||true|false|0.998_%2C_0.001997|false|false|1||false|false|false|DVL1:1855|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201343862|1277184|false|false|0|false|0|true||false|false|false|SNV|true|0x050000000305040436000100|1|false|137|rs201343862|] +1 1277184 exm1707125 G A . PASS FUNCOTATION=[DVL1|hg19|chr1|1277184|1277184|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1277184G>A|ENST00000378888.5|-|5|753|c.468C>T|c.(466-468)gcC>gcT|p.A156A|0.6408977556109726|TGGTCCGGGCGGCTGTGGGGG|DVL1_ENST00000378891.5_SPLICE_SITE_p.A156A|||||||||||||||||||||||||683|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL139287|||HGNC:3084|dishevelled_%20_segment_%20_polarity_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dishevelled_%20_1_%20_(homologous_%20_to_%20_Drosophila_%20_dsh)"_%2C__%20_"dishevelled_%2C__%20_dsh_%20_homolog_%20_1_%20_(Drosophila)"|||1p36.33|2016-10-05||2013-05-22|AF006011||1855|ENSG00000107404|8817329|NM_004421|505_%7C_1220|Dishevelled_%20_segment_%20_polarity_%20_proteins_%7C_PDZ_%20_domain_%20_containing|CCDS22_%2C__%20_CCDS81252|OTTHUMG00000003069|1855|601365|NM_004421|O14640|ENSG00000107404|uc002quu.4|DVL1_HUMAN||Q5TA33_%7C_Q5TA35|O14640|axon_%20_extension_%20_(GO:0048675)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0060070)_%7C_cochlea_%20_morphogenesis_%20_(GO:0090103)_%7C_collateral_%20_sprouting_%20_(GO:0048668)_%7C_convergent_%20_extension_%20_(GO:0060026)_%7C_convergent_%20_extension_%20_involved_%20_in_%20_neural_%20_plate_%20_elongation_%20_(GO:0022007)_%7C_cytoplasmic_%20_microtubule_%20_organization_%20_(GO:0031122)_%7C_dendrite_%20_morphogenesis_%20_(GO:0048813)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_neural_%20_tube_%20_development_%20_(GO:0021915)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_secretion_%20_(GO:0007269)_%7C_planar_%20_cell_%20_polarity_%20_pathway_%20_involved_%20_in_%20_neural_%20_tube_%20_closure_%20_(GO:0090179)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_projection_%20_development_%20_(GO:0010976)_%7C_positive_%20_regulation_%20_of_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0032436)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_prepulse_%20_inhibition_%20_(GO:0060134)_%7C_protein_%20_localization_%20_to_%20_microtubule_%20_(GO:0035372)_%7C_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:0034504)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_regulation_%20_of_%20_neurotransmitter_%20_levels_%20_(GO:0001505)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)_%7C_social_%20_behavior_%20_(GO:0035176)_%7C_synapse_%20_organization_%20_(GO:0050808)_%7C_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006366)_%7C_Wnt_%20_signaling_%20_pathway_%2C__%20_planar_%20_cell_%20_polarity_%20_pathway_%20_(GO:0060071)|axon_%20_(GO:0030424)_%7C_cell_%20_cortex_%20_(GO:0005938)_%7C_clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_cytoplasmic_%20_membrane-bounded_%20_vesicle_%20_(GO:0016023)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_dendrite_%20_(GO:0030425)_%7C_growth_%20_cone_%20_(GO:0030426)_%7C_microtubule_%20_(GO:0005874)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|enzyme_%20_binding_%20_(GO:0019899)_%7C_frizzled_%20_binding_%20_(GO:0005109)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rac_%20_GTPase_%20_binding_%20_(GO:0048365)||||true|false|0.998_%2C_0.001997|false|false|1||false|false|false|DVL1:1855|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201343862|1277184|false|false|0|false|0|true||false|false|false|SNV|true|0x050000000305040436000100|1|false|137|rs201343862|] +1 1287127 rs307380 G A . PASS FUNCOTATION=[DVL1|hg19|chr1|1287127|1287127|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:1287127G>A|ENST00000378888.5|-||||||0.6508728179551122|AGCCAGGCAGGAAGACCTAAG|DVL1_ENST00000378891.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||683|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL139287|||HGNC:3084|dishevelled_%20_segment_%20_polarity_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dishevelled_%20_1_%20_(homologous_%20_to_%20_Drosophila_%20_dsh)"_%2C__%20_"dishevelled_%2C__%20_dsh_%20_homolog_%20_1_%20_(Drosophila)"|||1p36.33|2016-10-05||2013-05-22|AF006011||1855|ENSG00000107404|8817329|NM_004421|505_%7C_1220|Dishevelled_%20_segment_%20_polarity_%20_proteins_%7C_PDZ_%20_domain_%20_containing|CCDS22_%2C__%20_CCDS81252|OTTHUMG00000003069|1855|601365|NM_004421|O14640|ENSG00000107404|uc002quu.4|DVL1_HUMAN||Q5TA33_%7C_Q5TA35|O14640|axon_%20_extension_%20_(GO:0048675)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0060070)_%7C_cochlea_%20_morphogenesis_%20_(GO:0090103)_%7C_collateral_%20_sprouting_%20_(GO:0048668)_%7C_convergent_%20_extension_%20_(GO:0060026)_%7C_convergent_%20_extension_%20_involved_%20_in_%20_neural_%20_plate_%20_elongation_%20_(GO:0022007)_%7C_cytoplasmic_%20_microtubule_%20_organization_%20_(GO:0031122)_%7C_dendrite_%20_morphogenesis_%20_(GO:0048813)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_neural_%20_tube_%20_development_%20_(GO:0021915)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_secretion_%20_(GO:0007269)_%7C_planar_%20_cell_%20_polarity_%20_pathway_%20_involved_%20_in_%20_neural_%20_tube_%20_closure_%20_(GO:0090179)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_projection_%20_development_%20_(GO:0010976)_%7C_positive_%20_regulation_%20_of_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0032436)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_prepulse_%20_inhibition_%20_(GO:0060134)_%7C_protein_%20_localization_%20_to_%20_microtubule_%20_(GO:0035372)_%7C_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:0034504)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_regulation_%20_of_%20_neurotransmitter_%20_levels_%20_(GO:0001505)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)_%7C_social_%20_behavior_%20_(GO:0035176)_%7C_synapse_%20_organization_%20_(GO:0050808)_%7C_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006366)_%7C_Wnt_%20_signaling_%20_pathway_%2C__%20_planar_%20_cell_%20_polarity_%20_pathway_%20_(GO:0060071)|axon_%20_(GO:0030424)_%7C_cell_%20_cortex_%20_(GO:0005938)_%7C_clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_cytoplasmic_%20_membrane-bounded_%20_vesicle_%20_(GO:0016023)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_dendrite_%20_(GO:0030425)_%7C_growth_%20_cone_%20_(GO:0030426)_%7C_microtubule_%20_(GO:0005874)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|enzyme_%20_binding_%20_(GO:0019899)_%7C_frizzled_%20_binding_%20_(GO:0005109)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rac_%20_GTPase_%20_binding_%20_(GO:0048365)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1305561 rs17160669 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1305561|1305561|IGR||SNP|C|C|T|g.chr1:1305561C>T|no_transcript|||||||0.5211970074812967|CATGGCTTCCCGGCAAGTTAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1309583 exm3225 G A . PASS FUNCOTATION=[AURKAIP1|hg19|chr1|1309583|1309583|NONSENSE||SNP|G|G|A|g.chr1:1309583G>A|ENST00000338370.3|-|2|696|c.295C>T|c.(295-297)Caa>Taa|p.Q99*|0.6533665835411472|TGGTAGGATTGCGGTGGAGCC|AURKAIP1_ENST00000338338.5_NONSENSE_p.Q99*/AURKAIP1_ENST00000378853.3_NONSENSE_p.Q99*/AURKAIP1_ENST00000321751.5_NONSENSE_p.Q99*|||||||||||||||||||||||||93|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_upper_aerodigestive_tract(1)|||||||BC062333|||HGNC:24114|aurora_%20_kinase_%20_A_%20_interacting_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||AKIP_%2C__%20_AIP_%2C__%20_FLJ20608||1p36.33|2014-11-18|||||54998|ENSG00000175756|12244051|NM_017900|||CCDS25|OTTHUMG00000001413|54998|609183|NM_001127229|Q9NWT8|ENSG00000175756|uc001afc.3|AKIP_HUMAN||Q5TA36_%7C_Q8TBD3|Q9NWT8|negative_%20_regulation_%20_of_%20_mitosis_%20_(GO:0045839)_%7C_positive_%20_regulation_%20_of_%20_proteolysis_%20_(GO:0045862)|intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1335302 rs1240707 C T . PASS FUNCOTATION=[RP4-758J18.2|hg19|chr1|1335302|1335302|INTRON||SNP|C|C|T|g.chr1:1335302C>T|ENST00000448629.2|+|||c.e1+233C>T|||0.655860349127182|AACACTCAGCCCCTGGGGAGA|RP4-758J18.2_ENST00000444362.1_INTRON/RP4-758J18.2_ENST00000576232.1_INTRON/CCNL2_ENST00000400809.3_FIVE_PRIME_FLANK/CCNL2_ENST00000408918.4_FIVE_PRIME_FLANK/CCNL2_ENST00000408952.5_FIVE_PRIME_FLANK/RP4-758J18.2_ENST00000453521.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CH471183||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1335790 rs1240708 A G . PASS FUNCOTATION=[RP4-758J18.2|hg19|chr1|1335790|1335790|INTRON||SNP|A|A|G|g.chr1:1335790A>G|ENST00000448629.2|+|||c.e2+107A>G|||0.5760598503740648|AGCTGCCAGTAACTGCCCAGC|RP4-758J18.2_ENST00000576232.1_THREE_PRIME_UTR/RP4-758J18.2_ENST00000444362.1_INTRON/CCNL2_ENST00000400809.3_FIVE_PRIME_FLANK/CCNL2_ENST00000408918.4_FIVE_PRIME_FLANK/CCNL2_ENST00000408952.5_FIVE_PRIME_FLANK/RP4-758J18.2_ENST00000453521.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CH471183||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1341171 variant.210 C T . PASS FUNCOTATION=[MRPL20|hg19|chr1|1341171|1341171|INTRON||SNP|C|C|T|g.chr1:1341171C>T|ENST00000344843.7|-|||c.e3-18G>A|||0.4513715710723192|TCAGTGGGACCCACATACTCA|MRPL20_ENST00000482352.1_NONSENSE_p.W98*/MRPL20_ENST00000493287.1_INTRON/RN7SL657P_ENST00000582431.1_FIVE_PRIME_FLANK/RP4-758J18.13_ENST00000607307.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||23|breast(11)_%7C_large_intestine(11)_%7C_oesophagus(1)|||||||CH471183|NM_017971.3|NP_060441.2|HGNC:14478|mitochondrial_%20_ribosomal_%20_protein_%20_L20|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10024||1p36.33|2016-10-05|||AB049644||55052|ENSG00000242485||NM_017971|646|Mitochondrial_%20_ribosomal_%20_proteins|CCDS26|OTTHUMG00000002916|55052|611833|NM_001318485|Q9BYC9|ENSG00000242485|uc001afo.5|RM20_HUMAN||B2RE41_%7C_B7Z746|Q9BYC9|translation_%20_(GO:0006412)|mitochondrial_%20_ribosome_%20_(GO:0005761)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_rRNA_%20_binding_%20_(GO:0019843)_%7C_structural_%20_constituent_%20_of_%20_ribosome_%20_(GO:0003735)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1354515 exm3350 C G . PASS FUNCOTATION=[ANKRD65|hg19|chr1|1354515|1354515|THREE_PRIME_UTR||SNP|C|C|G|g.chr1:1354515C>G|ENST00000520296.1|-|3|||||0.6683291770573566|CACTCCTTCTCCCCCCCTCCA|ANKRD65_ENST00000427211.1_THREE_PRIME_UTR/ANKRD65_ENST00000537107.1_MISSENSE_p.E389Q/ANKRD65_ENST00000454272.1_INTRON/RP4-758J18.7_ENST00000428932.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||BC094869|NM_001243536.1|NP_001230465.1|HGNC:42950|ankyrin_%20_repeat_%20_domain_%20_65|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.33|2013-01-10|||||441869|ENSG00000235098|||403|Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS55558_%2C__%20_CCDS57962_%2C__%20_CCDS57963|OTTHUMG00000002911|441869||NM_001145210|E5RJM6|ENSG00000235098|uc010nyo.3|ANR65_HUMAN||J3KR93|E5RJM6|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1354538 exm3352 G A . PASS FUNCOTATION=[ANKRD65|hg19|chr1|1354538|1354538|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:1354538G>A|ENST00000520296.1|-|3|||||0.6708229426433915|TTCAGGCAGCGCCTGGGGCAG|ANKRD65_ENST00000427211.1_THREE_PRIME_UTR/ANKRD65_ENST00000442470.1_THREE_PRIME_UTR/ANKRD65_ENST00000537107.1_MISSENSE_p.A381V/ANKRD65_ENST00000454272.1_INTRON/RP4-758J18.7_ENST00000428932.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||BC094869|NM_001243536.1|NP_001230465.1|HGNC:42950|ankyrin_%20_repeat_%20_domain_%20_65|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.33|2013-01-10|||||441869|ENSG00000235098|||403|Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS55558_%2C__%20_CCDS57962_%2C__%20_CCDS57963|OTTHUMG00000002911|441869||NM_001145210|E5RJM6|ENSG00000235098|uc010nyo.3|ANR65_HUMAN||J3KR93|E5RJM6|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1354844 exm3367 C T . PASS FUNCOTATION=[ANKRD65|hg19|chr1|1354844|1354844|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:1354844C>T|ENST00000520296.1|-|3|||||0.6882793017456359|CAGGTGTCCTCGGGCGGCAGC|ANKRD65_ENST00000427211.1_MISSENSE_p.E99K/ANKRD65_ENST00000442470.1_MISSENSE_p.E99K/ANKRD65_ENST00000537107.1_MISSENSE_p.R279Q/ANKRD65_ENST00000454272.1_INTRON/RP4-758J18.7_ENST00000428932.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||BC094869|NM_001243536.1|NP_001230465.1|HGNC:42950|ankyrin_%20_repeat_%20_domain_%20_65|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.33|2013-01-10|||||441869|ENSG00000235098|||403|Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS55558_%2C__%20_CCDS57962_%2C__%20_CCDS57963|OTTHUMG00000002911|441869||NM_001145210|E5RJM6|ENSG00000235098|uc010nyo.3|ANR65_HUMAN||J3KR93|E5RJM6|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1354920 exm3369 C A . PASS FUNCOTATION=[ANKRD65|hg19|chr1|1354920|1354920|THREE_PRIME_UTR||SNP|C|C|A|g.chr1:1354920C>A|ENST00000520296.1|-|3|||||0.6658354114713217|CCCAGCAGCACCTCAATGTCC|ANKRD65_ENST00000427211.1_MISSENSE_p.R73S/ANKRD65_ENST00000442470.1_MISSENSE_p.R73S/ANKRD65_ENST00000537107.1_MISSENSE_p.V254L/ANKRD65_ENST00000454272.1_INTRON/RP4-758J18.7_ENST00000428932.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||BC094869|NM_001243536.1|NP_001230465.1|HGNC:42950|ankyrin_%20_repeat_%20_domain_%20_65|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.33|2013-01-10|||||441869|ENSG00000235098|||403|Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS55558_%2C__%20_CCDS57962_%2C__%20_CCDS57963|OTTHUMG00000002911|441869||NM_001145210|E5RJM6|ENSG00000235098|uc010nyo.3|ANR65_HUMAN||J3KR93|E5RJM6|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1366830 rs873927 A G . PASS FUNCOTATION=[VWA1|hg19|chr1|1366830|1366830|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:1366830A>G|ENST00000338660.5|+||||||0.6633416458852868|CCACTTCAGGACCCTGGGTCC|VWA1_ENST00000404702.3_FIVE_PRIME_FLANK/VWA1_ENST00000476993.1_FIVE_PRIME_FLANK/RP4-758J18.10_ENST00000417917.1_LINCRNA|||||||||||||||||||||||||22|breast(11)_%7C_large_intestine(11)|||||||CH471183|||HGNC:30910|von_%20_Willebrand_%20_factor_%20_A_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ22215_%2C__%20_VWA-1_%2C__%20_WARP||1p36.33|2016-04-25|||BC059409||64856|ENSG00000179403|14527666_%2C__%20_12062410|NM_022834|555|Fibronectin_%20_type_%20_III_%20_domain_%20_containing|CCDS27_%2C__%20_CCDS28|OTTHUMG00000002975|64856|611901|NM_022834|Q6PCB0|ENSG00000179403|uc001afs.4|VWA1_HUMAN||A8K692_%7C_B3KUA1_%7C_E9PB53_%7C_Q7L5D7_%7C_Q9H6J5|Q6PCB0|behavioral_%20_response_%20_to_%20_pain_%20_(GO:0048266)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)|basement_%20_membrane_%20_(GO:0005604)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_interstitial_%20_matrix_%20_(GO:0005614)|||||true|false|0.3157_%2C_0.6843|false|false|1||false|true|false|LOC102724312:102724312|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|873927|1366830|true|false|0|true|0|false|0.497733_%2C_0.502267|false|false|false|SNV|true|0x050100080005150537000100|1|false|92|rs873927|] +1 1372743 exm3425 C T . PASS FUNCOTATION=[VWA1|hg19|chr1|1372743|1372743|SILENT||SNP|C|C|T|g.chr1:1372743C>T|ENST00000476993.1|+|2|588|c.510C>T|c.(508-510)acC>acT|p.T170T|0.6334164588528678|TTGTCAGCACCGGCCGAGGCA|VWA1_ENST00000338660.5_MISSENSE_p.R39W/VWA1_ENST00000404702.3_FIVE_PRIME_UTR/RP4-758J18.10_ENST00000417917.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||22|breast(11)_%7C_large_intestine(11)|||||||CH471183|NM_022834.4|NP_073745.2|HGNC:30910|von_%20_Willebrand_%20_factor_%20_A_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ22215_%2C__%20_VWA-1_%2C__%20_WARP||1p36.33|2016-04-25|||BC059409||64856|ENSG00000179403|14527666_%2C__%20_12062410|NM_022834|555|Fibronectin_%20_type_%20_III_%20_domain_%20_containing|CCDS27_%2C__%20_CCDS28|OTTHUMG00000002975|64856|611901|NM_022834|Q6PCB0|ENSG00000179403|uc001afs.4|VWA1_HUMAN||A8K692_%7C_B3KUA1_%7C_E9PB53_%7C_Q7L5D7_%7C_Q9H6J5|Q6PCB0|behavioral_%20_response_%20_to_%20_pain_%20_(GO:0048266)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)|basement_%20_membrane_%20_(GO:0005604)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_interstitial_%20_matrix_%20_(GO:0005614)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1372773 exm3429 C T . PASS FUNCOTATION=[VWA1|hg19|chr1|1372773|1372773|SILENT||SNP|C|C|T|g.chr1:1372773C>T|ENST00000476993.1|+|2|618|c.540C>T|c.(538-540)gcC>gcT|p.A180A|0.6384039900249376|AGCTGTCAGCCGCTGCCTCAG|VWA1_ENST00000338660.5_MISSENSE_p.R49C/VWA1_ENST00000404702.3_FIVE_PRIME_UTR/RP4-758J18.10_ENST00000417917.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||22|breast(11)_%7C_large_intestine(11)|||||||CH471183|NM_022834.4|NP_073745.2|HGNC:30910|von_%20_Willebrand_%20_factor_%20_A_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ22215_%2C__%20_VWA-1_%2C__%20_WARP||1p36.33|2016-04-25|||BC059409||64856|ENSG00000179403|14527666_%2C__%20_12062410|NM_022834|555|Fibronectin_%20_type_%20_III_%20_domain_%20_containing|CCDS27_%2C__%20_CCDS28|OTTHUMG00000002975|64856|611901|NM_022834|Q6PCB0|ENSG00000179403|uc001afs.4|VWA1_HUMAN||A8K692_%7C_B3KUA1_%7C_E9PB53_%7C_Q7L5D7_%7C_Q9H6J5|Q6PCB0|behavioral_%20_response_%20_to_%20_pain_%20_(GO:0048266)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)|basement_%20_membrane_%20_(GO:0005604)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_interstitial_%20_matrix_%20_(GO:0005614)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1388268 rs36044796 C A . PASS FUNCOTATION=[ATAD3C|hg19|chr1|1388268|1388268|INTRON||SNP|C|C|A|g.chr1:1388268C>A|ENST00000378785.2|+|||c.e3+454C>A|||0.5386533665835411|CCTCAGAAAACCCTGAGAGTT||||||||||||||||||||||||||||||||||BC101212|NM_001039211.2|NP_001034300.2|HGNC:32151|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_3C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ34599||1p36.33|2015-09-11|2007-02-08||AK091918||219293|ENSG00000215915||NM_001039211|413|AAA_%20_ATPases|CCDS44039|OTTHUMG00000000531|219293|617227|NM_001039211|Q5T2N8|ENSG00000215915|uc001aft.2|ATD3C_HUMAN||Q8N1Z5|Q5T2N8|||ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1396296 exm3518 C T . PASS FUNCOTATION=[ATAD3C|hg19|chr1|1396296|1396296|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:1396296C>T|ENST00000378785.2|+|10|1974|c.979C>T|c.(979-981)Cgg>Tgg|p.R327W|0.6508728179551122|AGAAGGAAAGCGGTAAGTGTC||||||||||||||||||||||||||||||||||BC101212|NM_001039211.2|NP_001034300.2|HGNC:32151|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_3C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ34599||1p36.33|2015-09-11|2007-02-08||AK091918||219293|ENSG00000215915||NM_001039211|413|AAA_%20_ATPases|CCDS44039|OTTHUMG00000000531|219293|617227|NM_001039211|Q5T2N8|ENSG00000215915|uc001aft.2|ATD3C_HUMAN||Q8N1Z5|Q5T2N8|||ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1396297 variant.222 G A . PASS FUNCOTATION=[ATAD3C|hg19|chr1|1396297|1396297|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1396297G>A|ENST00000378785.2|+|10|1975|c.980G>A|c.(979-981)cGg>cAg|p.R327Q|0.6483790523690773|GAAGGAAAGCGGTAAGTGTCC||||||||||||||||||||||||||||||||||BC101212|NM_001039211.2|NP_001034300.2|HGNC:32151|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_3C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ34599||1p36.33|2015-09-11|2007-02-08||AK091918||219293|ENSG00000215915||NM_001039211|413|AAA_%20_ATPases|CCDS44039|OTTHUMG00000000531|219293|617227|NM_001039211|Q5T2N8|ENSG00000215915|uc001aft.2|ATD3C_HUMAN||Q8N1Z5|Q5T2N8|||ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1425658 exm2249844 C T . PASS FUNCOTATION=[ATAD3B|hg19|chr1|1425658|1425658|SILENT||SNP|C|C|T|g.chr1:1425658C>T|ENST00000308647.7|+|14|1475|c.1359C>T|c.(1357-1359)agC>agT|p.S453S|0.6109725685785536|TCCTGGCCAGCAATCTGCCTG||||||||||||||||||||||||||44|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)|||||||CH471183|NM_031921.4|NP_114127.3|HGNC:24007|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_3B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||TOB3_%2C__%20_KIAA1273||1p36.33|2015-09-11|2007-02-08||AL834179||83858|ENSG00000160072|10574462|NM_031921|413|AAA_%20_ATPases|CCDS30|OTTHUMG00000000577|83858|612317|NM_001317238|Q5T9A4|ENSG00000160072|uc001afv.4|ATD3B_HUMAN||A8K3H1_%7C_Q6ZRB5_%7C_Q9BUK4_%7C_Q9ULE7|Q5T9A4||mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)|ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1425700 rs819980 T C . PASS FUNCOTATION=[ATAD3B|hg19|chr1|1425700|1425700|SILENT||SNP|T|T|C|g.chr1:1425700T>C|ENST00000308647.7|+|14|1517|c.1401T>C|c.(1399-1401)atT>atC|p.I467I|0.6034912718204489|ACAGCCGCATTGACGTGATGG||||||||||||||||||||||||||44|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)|||||||CH471183|NM_031921.4|NP_114127.3|HGNC:24007|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_3B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||TOB3_%2C__%20_KIAA1273||1p36.33|2015-09-11|2007-02-08||AL834179||83858|ENSG00000160072|10574462|NM_031921|413|AAA_%20_ATPases|CCDS30|OTTHUMG00000000577|83858|612317|NM_001317238|Q5T9A4|ENSG00000160072|uc001afv.4|ATD3B_HUMAN||A8K3H1_%7C_Q6ZRB5_%7C_Q9BUK4_%7C_Q9ULE7|Q5T9A4||mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)|ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1430993 exm2249851 C T . PASS FUNCOTATION=[ATAD3B|hg19|chr1|1430993|1430993|SILENT||SNP|C|C|T|g.chr1:1430993C>T|ENST00000308647.7|+|16|1859|c.1743C>T|c.(1741-1743)gtC>gtT|p.V581V|0.6608478802992519|GGCGCGGGGTCGAGCACCCCC||||||||||||||||||||||||||44|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)|||||||CH471183|NM_031921.4|NP_114127.3|HGNC:24007|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_3B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||TOB3_%2C__%20_KIAA1273||1p36.33|2015-09-11|2007-02-08||AL834179||83858|ENSG00000160072|10574462|NM_031921|413|AAA_%20_ATPases|CCDS30|OTTHUMG00000000577|83858|612317|NM_001317238|Q5T9A4|ENSG00000160072|uc001afv.4|ATD3B_HUMAN||A8K3H1_%7C_Q6ZRB5_%7C_Q9BUK4_%7C_Q9ULE7|Q5T9A4||mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)|ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1447325 rs6690515 G A . PASS FUNCOTATION=[ATAD3A|hg19|chr1|1447325|1447325|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:1447325G>A|ENST00000378755.5|+||||||0.6932668329177057|GGCTGACGCTGCCTTGGGTTC|ATAD3A_ENST00000378756.3_FIVE_PRIME_FLANK/ATAD3A_ENST00000536055.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||GU189416|NM_018188.3|NP_060658.3|HGNC:25567|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_3A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10709||1p36.33|2017-11-27|2007-02-08||AK025865||55210|ENSG00000197785|28158749|NM_018188|413|AAA_%20_ATPases|CCDS31_%2C__%20_CCDS53259_%2C__%20_CCDS53260|OTTHUMG00000000575|55210|612316|NM_001170535|Q9NVI7|ENSG00000197785|uc001aga.3|ATD3A_HUMAN||B3KPB3_%7C_D2K8Q1_%7C_G3V1I6_%7C_Q5SV23_%7C_Q8N275_%7C_Q96A50|Q9NVI7|cell_%20_growth_%20_(GO:0016049)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_nucleoid_%20_(GO:0042645)_%7C_mitochondrion_%20_(GO:0005739)|ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1450947 rs6669795 A C . PASS FUNCOTATION=[ATAD3A|hg19|chr1|1450947|1450947|INTRON||SNP|A|A|C|g.chr1:1450947A>C|ENST00000378756.3|+|||c.e2-445A>C|||0.46633416458852867|TGTCCTCGTCACCCTGAGCTT|ATAD3A_ENST00000378755.5_INTRON/ATAD3A_ENST00000536055.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||GU189416|NM_001170535.1|NP_001164006.1|HGNC:25567|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_3A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10709||1p36.33|2017-11-27|2007-02-08||AK025865||55210|ENSG00000197785|28158749|NM_018188|413|AAA_%20_ATPases|CCDS31_%2C__%20_CCDS53259_%2C__%20_CCDS53260|OTTHUMG00000000575|55210|612316|NM_001170535|Q9NVI7|ENSG00000197785|uc001aga.3|ATD3A_HUMAN||B3KPB3_%7C_D2K8Q1_%7C_G3V1I6_%7C_Q5SV23_%7C_Q8N275_%7C_Q96A50|Q9NVI7|cell_%20_growth_%20_(GO:0016049)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_nucleoid_%20_(GO:0042645)_%7C_mitochondrion_%20_(GO:0005739)|ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1460671 exm3851 C T . PASS FUNCOTATION=[ATAD3A|hg19|chr1|1460671|1460671|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1460671C>T|ENST00000378756.3|+|12|1384|c.1266C>T|c.(1264-1266)acC>acT|p.T422T|0.5810473815461347|AGCGAGCCACCGTGAGTGTCA|ATAD3A_ENST00000378755.5_SPLICE_SITE_p.T470T/ATAD3A_ENST00000536055.1_SPLICE_SITE_p.T343T|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||GU189416|NM_001170535.1|NP_001164006.1|HGNC:25567|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_3A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10709||1p36.33|2017-11-27|2007-02-08||AK025865||55210|ENSG00000197785|28158749|NM_018188|413|AAA_%20_ATPases|CCDS31_%2C__%20_CCDS53259_%2C__%20_CCDS53260|OTTHUMG00000000575|55210|612316|NM_001170535|Q9NVI7|ENSG00000197785|uc001aga.3|ATD3A_HUMAN||B3KPB3_%7C_D2K8Q1_%7C_G3V1I6_%7C_Q5SV23_%7C_Q8N275_%7C_Q96A50|Q9NVI7|cell_%20_growth_%20_(GO:0016049)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_nucleoid_%20_(GO:0042645)_%7C_mitochondrion_%20_(GO:0005739)|ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1460671 exm3851 C T . PASS FUNCOTATION=[ATAD3A|hg19|chr1|1460671|1460671|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1460671C>T|ENST00000378756.3|+|12|1384|c.1266C>T|c.(1264-1266)acC>acT|p.T422T|0.5810473815461347|AGCGAGCCACCGTGAGTGTCA|ATAD3A_ENST00000378755.5_SPLICE_SITE_p.T470T/ATAD3A_ENST00000536055.1_SPLICE_SITE_p.T343T|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||GU189416|NM_001170535.1|NP_001164006.1|HGNC:25567|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_3A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10709||1p36.33|2017-11-27|2007-02-08||AK025865||55210|ENSG00000197785|28158749|NM_018188|413|AAA_%20_ATPases|CCDS31_%2C__%20_CCDS53259_%2C__%20_CCDS53260|OTTHUMG00000000575|55210|612316|NM_001170535|Q9NVI7|ENSG00000197785|uc001aga.3|ATD3A_HUMAN||B3KPB3_%7C_D2K8Q1_%7C_G3V1I6_%7C_Q5SV23_%7C_Q8N275_%7C_Q96A50|Q9NVI7|cell_%20_growth_%20_(GO:0016049)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_nucleoid_%20_(GO:0042645)_%7C_mitochondrion_%20_(GO:0005739)|ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1465382 rs12032637 A G . PASS FUNCOTATION=[ATAD3A|hg19|chr1|1465382|1465382|INTRON||SNP|A|A|G|g.chr1:1465382A>G|ENST00000378756.3|+|||c.e15+671A>G|||0.5610972568578554|GAGTCTGTGTAACAACCTGGT|ATAD3A_ENST00000378755.5_INTRON/ATAD3A_ENST00000536055.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||GU189416|NM_001170535.1|NP_001164006.1|HGNC:25567|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_3A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10709||1p36.33|2017-11-27|2007-02-08||AK025865||55210|ENSG00000197785|28158749|NM_018188|413|AAA_%20_ATPases|CCDS31_%2C__%20_CCDS53259_%2C__%20_CCDS53260|OTTHUMG00000000575|55210|612316|NM_001170535|Q9NVI7|ENSG00000197785|uc001aga.3|ATD3A_HUMAN||B3KPB3_%7C_D2K8Q1_%7C_G3V1I6_%7C_Q5SV23_%7C_Q8N275_%7C_Q96A50|Q9NVI7|cell_%20_growth_%20_(GO:0016049)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_nucleoid_%20_(GO:0042645)_%7C_mitochondrion_%20_(GO:0005739)|ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1474167 rs1571149 A G . PASS FUNCOTATION=[TMEM240|hg19|chr1|1474167|1474167|INTRON||SNP|A|A|G|g.chr1:1474167A>G|ENST00000378733.4|-|||c.e2-897T>C|||0.5860349127182045|CACATGCCCCACACCCACACG|TMEM240_ENST00000425828.1_INTRON|||||||||||||||||||||||||||||||||BC147020|NM_001114748.1|NP_001108220.1|HGNC:25186|transmembrane_%20_protein_%20_240|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf70_%2C__%20_SCA21|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_70"_%2C__%20_"spinocerebellar_%20_ataxia_%20_21"|||1p36.33|2015-08-26|2011-11-25|2011-11-25|||339453|ENSG00000205090|12402269_%2C__%20_25070513|NM_001114748|||CCDS44040|OTTHUMG00000042193|339453|616101|NM_001114748|Q5SV17|ENSG00000205090|uc057bfw.1|TM240_HUMAN||B9EJG7|Q5SV17||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1485984 rs2031709 C A . PASS FUNCOTATION=[SSU72|hg19|chr1|1485984|1485984|INTRON||SNP|C|C|A|g.chr1:1485984C>A|ENST00000291386.3|-|||c.e3+5602G>T|||0.6209476309226932|GCTGGCCCCCCTCAAGTGCCT||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(2)|||||||CH471183|NM_014188.2|NP_054907.1|HGNC:25016|SSU72_%20_homolog_%2C__%20_RNA_%20_polymerase_%20_II_%20_CTD_%20_phosphatase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Ssu72_%20_RNA_%20_polymerase_%20_II_%20_CTD_%20_phosphatase_%20_homolog_%20_(yeast)"_%2C__%20_"SSU72_%20_RNA_%20_polymerase_%20_II_%20_CTD_%20_phosphatase_%20_homolog_%20_(S._%20_cerevisiae)"|HSPC182||1p36.33|2016-10-05||2015-08-13|AJ276409||29101|ENSG00000160075|15125841_%2C__%20_15659578|NM_014188|814|Serine/threonine_%20_phosphatases|CCDS32|OTTHUMG00000000576|29101|617680|NM_014188|Q9NP77|ENSG00000160075|uc001agd.4|SSU72_HUMAN||Q9BZS6_%7C_Q9H933|Q9NP77|dephosphorylation_%20_of_%20_RNA_%20_polymerase_%20_II_%20_C-terminal_%20_domain_%20_(GO:0070940)_%7C_mRNA_%20_polyadenylation_%20_(GO:0006378)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|CTD_%20_phosphatase_%20_activity_%20_(GO:0008420)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1489670 rs7531530 C T . PASS FUNCOTATION=[SSU72|hg19|chr1|1489670|1489670|INTRON||SNP|C|C|T|g.chr1:1489670C>T|ENST00000291386.3|-|||c.e3+9288G>A|||0.6384039900249376|GAGCACGAGACGGATCCGGAC||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(2)|||||||CH471183|NM_014188.2|NP_054907.1|HGNC:25016|SSU72_%20_homolog_%2C__%20_RNA_%20_polymerase_%20_II_%20_CTD_%20_phosphatase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Ssu72_%20_RNA_%20_polymerase_%20_II_%20_CTD_%20_phosphatase_%20_homolog_%20_(yeast)"_%2C__%20_"SSU72_%20_RNA_%20_polymerase_%20_II_%20_CTD_%20_phosphatase_%20_homolog_%20_(S._%20_cerevisiae)"|HSPC182||1p36.33|2016-10-05||2015-08-13|AJ276409||29101|ENSG00000160075|15125841_%2C__%20_15659578|NM_014188|814|Serine/threonine_%20_phosphatases|CCDS32|OTTHUMG00000000576|29101|617680|NM_014188|Q9NP77|ENSG00000160075|uc001agd.4|SSU72_HUMAN||Q9BZS6_%7C_Q9H933|Q9NP77|dephosphorylation_%20_of_%20_RNA_%20_polymerase_%20_II_%20_C-terminal_%20_domain_%20_(GO:0070940)_%7C_mRNA_%20_polyadenylation_%20_(GO:0006378)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|CTD_%20_phosphatase_%20_activity_%20_(GO:0008420)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1521595 rs6604983 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|1521595|1521595|IGR||SNP|A|A|G|g.chr1:1521595A>G|no_transcript|||||||0.5461346633416458|CGAAGAGGACAGCCAGAAGAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1550992 exm3957 C A . PASS FUNCOTATION=[MIB2|hg19|chr1|1550992|1550992|NONSENSE||SNP|C|C|A|g.chr1:1550992C>A|ENST00000505820.2|+|1|170|c.153C>A|c.(151-153)tgC>tgA|p.C51*|0.7630922693266833|TGGCGCGATGCGGGCCGTCCT|MIB2_ENST00000520777.1_NONSENSE_p.C51*/MIB2_ENST00000355826.5_NONSENSE_p.C51*/MIB2_ENST00000518681.1_NONSENSE_p.C51*/MIB2_ENST00000357210.4_FIVE_PRIME_UTR/MIB2_ENST00000360522.4_FIVE_PRIME_UTR/MIB2_ENST00000378710.3_FIVE_PRIME_UTR/MIB2_ENST00000378708.1_FIVE_PRIME_FLANK/MIB2_ENST00000378712.1_FIVE_PRIME_FLANK/MIB2_ENST00000504599.1_FIVE_PRIME_FLANK/RP11-345P4.9_ENST00000607222.1_RNA|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC037542|||HGNC:30577|mindbomb_%20_E3_%20_ubiquitin_%20_protein_%20_ligase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZZANK1|"zinc_%20_finger_%2C__%20_ZZ_%20_type_%20_with_%20_ankyrin_%20_repeat_%20_domain_%20_1"_%2C__%20_"mindbomb_%20_homolog_%20_2_%20_(Drosophila)"|skeletrophin_%2C__%20_ZZZ5_%2C__%20_FLJ39787||1p36.33|2016-04-25|2005-04-01|2012-02-23|AK097106||142678|ENSG00000197530|12761501|NM_080875|91_%7C_403|Zinc_%20_fingers_%20_ZZ-type_%7C_Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS41224_%2C__%20_CCDS53261_%2C__%20_CCDS53262_%2C__%20_CCDS53263_%2C__%20_CCDS53264|OTTHUMG00000074647|142678|611141|NM_001170686|Q96AX9|ENSG00000197530|uc001agg.4|MIB2_HUMAN||A2AGM5_%7C_A2AGM6_%7C_B3KV93_%7C_B3KVF4_%7C_B3KXY1_%7C_B4DZ57_%7C_E9PGU1_%7C_E9PHQ1_%7C_F8WA73_%7C_J3KNZ7_%7C_Q7Z437_%7C_Q8IY62_%7C_Q8N786_%7C_Q8N897_%7C_Q8N8R2_%7C_Q8N911_%7C_Q8NB36_%7C_Q8NCY1_%7C_Q8NG59_%7C_Q8NG60_%7C_Q8NG61_%7C_Q8NI59_%7C_Q8WYN1|Q96AX9|Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)|early_%20_endosome_%20_(GO:0005769)_%7C_ubiquitin_%20_ligase_%20_complex_%20_(GO:0000151)|ligase_%20_activity_%20_(GO:0016874)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false||false|false|||false|false|false|MIB2:142678|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|199741261|1550992|false|false|0|true|0|false|0.998798_%2C_0.00120201|false|false|false|SNV|true|0x050100020605040402000100|1|false|137|rs199741261|] +1 1560103 rs28635343 C T . PASS FUNCOTATION=[MIB2|hg19|chr1|1560103|1560103|INTRON||SNP|C|C|T|g.chr1:1560103C>T|ENST00000505820.2|+|||c.e5-72C>T|||0.6433915211970075|CTGCATCGCTCTCCCAAGTGG|MIB2_ENST00000520777.1_INTRON/MIB2_ENST00000504599.1_INTRON/MIB2_ENST00000355826.5_INTRON/MIB2_ENST00000378708.1_INTRON/MIB2_ENST00000518681.1_INTRON/MIB2_ENST00000378712.1_INTRON/MIB2_ENST00000357210.4_INTRON/MIB2_ENST00000360522.4_INTRON/MIB2_ENST00000378710.3_INTRON/MIB2_ENST00000512004.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC037542|||HGNC:30577|mindbomb_%20_E3_%20_ubiquitin_%20_protein_%20_ligase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZZANK1|"zinc_%20_finger_%2C__%20_ZZ_%20_type_%20_with_%20_ankyrin_%20_repeat_%20_domain_%20_1"_%2C__%20_"mindbomb_%20_homolog_%20_2_%20_(Drosophila)"|skeletrophin_%2C__%20_ZZZ5_%2C__%20_FLJ39787||1p36.33|2016-04-25|2005-04-01|2012-02-23|AK097106||142678|ENSG00000197530|12761501|NM_080875|91_%7C_403|Zinc_%20_fingers_%20_ZZ-type_%7C_Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS41224_%2C__%20_CCDS53261_%2C__%20_CCDS53262_%2C__%20_CCDS53263_%2C__%20_CCDS53264|OTTHUMG00000074647|142678|611141|NM_001170686|Q96AX9|ENSG00000197530|uc001agg.4|MIB2_HUMAN||A2AGM5_%7C_A2AGM6_%7C_B3KV93_%7C_B3KVF4_%7C_B3KXY1_%7C_B4DZ57_%7C_E9PGU1_%7C_E9PHQ1_%7C_F8WA73_%7C_J3KNZ7_%7C_Q7Z437_%7C_Q8IY62_%7C_Q8N786_%7C_Q8N897_%7C_Q8N8R2_%7C_Q8N911_%7C_Q8NB36_%7C_Q8NCY1_%7C_Q8NG59_%7C_Q8NG60_%7C_Q8NG61_%7C_Q8NI59_%7C_Q8WYN1|Q96AX9|Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)|early_%20_endosome_%20_(GO:0005769)_%7C_ubiquitin_%20_ligase_%20_complex_%20_(GO:0000151)|ligase_%20_activity_%20_(GO:0016874)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.7596_%2C_0.2404|false|false|1||false|true|true|MIB2:142678|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28635343|1560103|false|false|0|true|0|false|0.816265_%2C_0.183735|false|false|false|SNV|true|0x050100080005170536000100|1|false|125|rs28635343|] +1 1562786 exm2250001 C T . PASS FUNCOTATION=[MIB2|hg19|chr1|1562786|1562786|SILENT||SNP|C|C|T|g.chr1:1562786C>T|ENST00000505820.2|+|12|1847|c.1830C>T|c.(1828-1830)gaC>gaT|p.D610D|0.71571072319202|ACCTGCCGGACGACGAGGGCA|MIB2_ENST00000520777.1_SILENT_p.D606D/MIB2_ENST00000504599.1_SILENT_p.D509D/MIB2_ENST00000355826.5_SILENT_p.D596D/MIB2_ENST00000378708.1_SILENT_p.D459D/MIB2_ENST00000518681.1_SILENT_p.D545D/MIB2_ENST00000378712.1_SILENT_p.D430D/MIB2_ENST00000357210.4_SILENT_p.D553D/MIB2_ENST00000360522.4_SILENT_p.D518D/MIB2_ENST00000378710.3_SILENT_p.D517D/MMP23B_ENST00000356026.5_FIVE_PRIME_FLANK/MMP23B_ENST00000378675.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC037542|||HGNC:30577|mindbomb_%20_E3_%20_ubiquitin_%20_protein_%20_ligase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZZANK1|"zinc_%20_finger_%2C__%20_ZZ_%20_type_%20_with_%20_ankyrin_%20_repeat_%20_domain_%20_1"_%2C__%20_"mindbomb_%20_homolog_%20_2_%20_(Drosophila)"|skeletrophin_%2C__%20_ZZZ5_%2C__%20_FLJ39787||1p36.33|2016-04-25|2005-04-01|2012-02-23|AK097106||142678|ENSG00000197530|12761501|NM_080875|91_%7C_403|Zinc_%20_fingers_%20_ZZ-type_%7C_Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS41224_%2C__%20_CCDS53261_%2C__%20_CCDS53262_%2C__%20_CCDS53263_%2C__%20_CCDS53264|OTTHUMG00000074647|142678|611141|NM_001170686|Q96AX9|ENSG00000197530|uc001agg.4|MIB2_HUMAN||A2AGM5_%7C_A2AGM6_%7C_B3KV93_%7C_B3KVF4_%7C_B3KXY1_%7C_B4DZ57_%7C_E9PGU1_%7C_E9PHQ1_%7C_F8WA73_%7C_J3KNZ7_%7C_Q7Z437_%7C_Q8IY62_%7C_Q8N786_%7C_Q8N897_%7C_Q8N8R2_%7C_Q8N911_%7C_Q8NB36_%7C_Q8NCY1_%7C_Q8NG59_%7C_Q8NG60_%7C_Q8NG61_%7C_Q8NI59_%7C_Q8WYN1|Q96AX9|Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)|early_%20_endosome_%20_(GO:0005769)_%7C_ubiquitin_%20_ligase_%20_complex_%20_(GO:0000151)|ligase_%20_activity_%20_(GO:0016874)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.992_%2C_0.007987|false|false|1||false|false|false|MIB2:142678|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|75855249|1562786|false|true|0|true|0|true|0.981249_%2C_0.0187513|false|false|false|SNV|true|0x050300000305040436000100|1|false|131|rs75855249|] +1 1565032 exm4160 G A . PASS FUNCOTATION=[MIB2|hg19|chr1|1565032|1565032|SILENT||SNP|G|G|A|g.chr1:1565032G>A|ENST00000505820.2|+|19|2939|c.2922G>A|c.(2920-2922)agG>agA|p.R974R|0.713216957605985|GCGCGCGCAGGATGAAGAAGT|MIB2_ENST00000520777.1_SILENT_p.R970R/MIB2_ENST00000504599.1_SILENT_p.R873R/MIB2_ENST00000355826.5_SILENT_p.R960R/MIB2_ENST00000378708.1_SILENT_p.R823R/MIB2_ENST00000378712.1_MISSENSE_p.D734N/MIB2_ENST00000518681.1_SILENT_p.R909R/MIB2_ENST00000357210.4_SILENT_p.R917R/MIB2_ENST00000360522.4_SILENT_p.R882R/MIB2_ENST00000378710.3_SILENT_p.R881R/MMP23B_ENST00000356026.5_FIVE_PRIME_FLANK/MMP23B_ENST00000378675.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC037542|||HGNC:30577|mindbomb_%20_E3_%20_ubiquitin_%20_protein_%20_ligase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZZANK1|"zinc_%20_finger_%2C__%20_ZZ_%20_type_%20_with_%20_ankyrin_%20_repeat_%20_domain_%20_1"_%2C__%20_"mindbomb_%20_homolog_%20_2_%20_(Drosophila)"|skeletrophin_%2C__%20_ZZZ5_%2C__%20_FLJ39787||1p36.33|2016-04-25|2005-04-01|2012-02-23|AK097106||142678|ENSG00000197530|12761501|NM_080875|91_%7C_403|Zinc_%20_fingers_%20_ZZ-type_%7C_Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS41224_%2C__%20_CCDS53261_%2C__%20_CCDS53262_%2C__%20_CCDS53263_%2C__%20_CCDS53264|OTTHUMG00000074647|142678|611141|NM_001170686|Q96AX9|ENSG00000197530|uc001agg.4|MIB2_HUMAN||A2AGM5_%7C_A2AGM6_%7C_B3KV93_%7C_B3KVF4_%7C_B3KXY1_%7C_B4DZ57_%7C_E9PGU1_%7C_E9PHQ1_%7C_F8WA73_%7C_J3KNZ7_%7C_Q7Z437_%7C_Q8IY62_%7C_Q8N786_%7C_Q8N897_%7C_Q8N8R2_%7C_Q8N911_%7C_Q8NB36_%7C_Q8NCY1_%7C_Q8NG59_%7C_Q8NG60_%7C_Q8NG61_%7C_Q8NI59_%7C_Q8WYN1|Q96AX9|Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)|early_%20_endosome_%20_(GO:0005769)_%7C_ubiquitin_%20_ligase_%20_complex_%20_(GO:0000151)|ligase_%20_activity_%20_(GO:0016874)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|MIB2:142678|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200777664|1565032|false|false|0|false|0|true|0.99945_%2C_0.000549526|false|false|false|SNV|true|0x050000000b05040426000100|1|false|137|rs200777664|] +1 1566160 rs28464684 T C . PASS FUNCOTATION=[MMP23B|hg19|chr1|1566160|1566160|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:1566160T>C|ENST00000356026.5|+||||||0.743142144638404|AGGACACCCTTCAGGCGCGGG|MMP23B_ENST00000378675.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||120|central_nervous_system(22)_%7C_lung(98)|||||||BC025719|||HGNC:7171|matrix_%20_metallopeptidase_%20_23B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MMP22|"matrix_%20_metalloproteinase_%20_23B"|MIFR_%2C__%20_MIFR-1|"matrix_%20_metalloproteinase_%20_22"_%2C__%20_"femalysin"_%2C__%20_"matrix_%20_metalloproteinase_%20_in_%20_the_%20_female_%20_reproductive_%20_tract"|1p36.33|2016-10-05||2005-08-08|||8510|ENSG00000189409|9740677_%2C__%20_9750192|NM_006983|594_%7C_891|Immunoglobulin_%20_like_%20_domain_%20_containing_%7C_M10_%20_matrix_%20_metallopeptidases|CCDS30559|OTTHUMG00000074713|8510|603321|NM_006983|O75900|ENSG00000189409|uc057bhg.1|MMP23_HUMAN|Marimastat(DB00786)|A2AGN0_%7C_A2AGN1_%7C_O75894_%7C_O75895_%7C_Q5QPQ8_%7C_Q76P96_%7C_Q7LDM6_%7C_Q7LDM7_%7C_Q9UBR9_%7C_Q9UJK8|O75900|proteolysis_%20_(GO:0006508)_%7C_reproduction_%20_(GO:0000003)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intracellular_%20_(GO:0005622)_%7C_proteinaceous_%20_extracellular_%20_matrix_%20_(GO:0005578)|metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_metallopeptidase_%20_activity_%20_(GO:0008237)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1572310 exm2250017 C T . PASS FUNCOTATION=[CDK11B|hg19|chr1|1572310|1572310|SILENT||SNP|C|C|T|g.chr1:1572310C>T|ENST00000407249.3|-|17|1758|c.1758G>A|c.(1756-1758)ccG>ccA|p.P586P|0.655860349127182|TCACCACGACCGGGGTGTAGG|CDK11B_ENST00000317673.7_SILENT_p.P584P/CDK11B_ENST00000340677.5_SILENT_p.P573P/CDK11B_ENST00000341832.6_SILENT_p.P539P|||||||||||||||||||||||||489|biliary_tract(2)_%7C_breast(27)_%7C_central_nervous_system(60)_%7C_haematopoietic_and_lymphoid_tissue(64)_%7C_kidney(46)_%7C_large_intestine(71)_%7C_lung(52)_%7C_oesophagus(1)_%7C_ovary(52)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||BC139777|||HGNC:1729|cyclin_%20_dependent_%20_kinase_%20_11B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CDC2L1|"cell_%20_division_%20_cycle_%20_2-like_%20_1_%20_(PITSLRE_%20_proteins)"|CDK11-p110_%2C__%20_CDK11-p58_%2C__%20_CDK11-p46||1p36.33|2016-06-08|2009-12-16|2016-06-08|AK000081||984|ENSG00000248333|1774066_%2C__%20_14511641_%2C__%20_19884882|NM_001787|496|Cyclin_%20_dependent_%20_kinases|CCDS72682_%2C__%20_CCDS72683_%2C__%20_CCDS72684|OTTHUMG00000078638|984|176873|NM_001291345|P21127|ENSG00000248333|uc031tml.2|CD11B_HUMAN||O95265_%7C_Q12817_%7C_Q12818_%7C_Q12819_%7C_Q12820_%7C_Q12822_%7C_Q8N530_%7C_Q9NZS5_%7C_Q9UBJ0_%7C_Q9UBQ1_%7C_Q9UBR0_%7C_Q9UNY2_%7C_Q9UP57_%7C_Q9UP58_%7C_Q9UP59|P21127|apoptotic_%20_process_%20_(GO:0006915)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0001558)_%7C_regulation_%20_of_%20_mRNA_%20_processing_%20_(GO:0050684)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004693)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1601104 exm4292 G A . PASS FUNCOTATION=[SLC35E2B|hg19|chr1|1601104|1601104|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1601104G>A|ENST00000378662.1|-|8|1594|c.833C>T|c.(832-834)aCg>aTg|p.T278M|0.6109725685785536|GAAACCCACCGTAAAGAAAAC|SLC35E2B_ENST00000234800.6_SPLICE_SITE_p.T278M/RP11-345P4.7_ENST00000596308.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CR936618|||HGNC:33941|solute_%20_carrier_%20_family_%20_35_%20_member_%20_E2B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_35_%2C__%20_member_%20_E2B"|||1p36.33|2015-12-04||2015-12-04|||728661|ENSG00000189339|||752|Solute_%20_carriers|CCDS44041|OTTHUMG00000078639|728661||NM_001110781|P0CK96|ENSG00000189339|uc057bht.1|S352B_HUMAN||B3KWR0_%7C_O75035_%7C_Q2TAY8_%7C_Q569F8_%7C_Q5CZA4_%7C_Q9Y3J8|P0CK96||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1601537 variant.241 G A . PASS FUNCOTATION=[SLC35E2B|hg19|chr1|1601537|1601537|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1601537G>A|ENST00000378662.1|-|7|1522|c.761C>T|c.(760-762)tCg>tTg|p.S254L|0.5112219451371571|TAATACTTACGAGAACCTGTA|SLC35E2B_ENST00000234800.6_SPLICE_SITE_p.S254L/RP11-345P4.7_ENST00000596308.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CR936618|||HGNC:33941|solute_%20_carrier_%20_family_%20_35_%20_member_%20_E2B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_35_%2C__%20_member_%20_E2B"|||1p36.33|2015-12-04||2015-12-04|||728661|ENSG00000189339|||752|Solute_%20_carriers|CCDS44041|OTTHUMG00000078639|728661||NM_001110781|P0CK96|ENSG00000189339|uc057bht.1|S352B_HUMAN||B3KWR0_%7C_O75035_%7C_Q2TAY8_%7C_Q569F8_%7C_Q5CZA4_%7C_Q9Y3J8|P0CK96||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1611995 exm2264793 A G . PASS FUNCOTATION=[SLC35E2B|hg19|chr1|1611995|1611995|INTRON||SNP|A|A|G|g.chr1:1611995A>G|ENST00000378662.1|-|||c.e3+3710T>C|||0.6209476309226932|AGCCAACGTCACACCGACCTG|SLC35E2B_ENST00000234800.6_INTRON|||||||||||||||||||||||||||||||||CR936618|||HGNC:33941|solute_%20_carrier_%20_family_%20_35_%20_member_%20_E2B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_35_%2C__%20_member_%20_E2B"|||1p36.33|2015-12-04||2015-12-04|||728661|ENSG00000189339|||752|Solute_%20_carriers|CCDS44041|OTTHUMG00000078639|728661||NM_001110781|P0CK96|ENSG00000189339|uc057bht.1|S352B_HUMAN||B3KWR0_%7C_O75035_%7C_Q2TAY8_%7C_Q569F8_%7C_Q5CZA4_%7C_Q9Y3J8|P0CK96||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1647686 rs909823 A C . PASS FUNCOTATION=[CDK11A|hg19|chr1|1647686|1647686|INTRON||SNP|A|A|C|g.chr1:1647686A>C|ENST00000358779.5|-|||c.e5-99T>G|||0.5037406483790524|CACTTCTGCAACAAATGTGAC|CDK11A_ENST00000356200.3_INTRON/CDK11A_ENST00000378633.1_INTRON/CDK11A_ENST00000404249.3_INTRON/CDK11A_ENST00000357760.2_INTRON/CDK11A_ENST00000378638.2_INTRON/CDK11A_ENST00000378635.3_INTRON/RP1-283E3.8_ENST00000598846.1_RNA|Pancreas(186_%3B_965_%20_2119_%20_30274_%20_40311_%20_50569)||||||||||||||||||||||||15|oesophagus(1)_%7C_stomach(14)|||||||U07705|NM_033529.2|NP_277071.2|HGNC:1730|cyclin_%20_dependent_%20_kinase_%20_11A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CDC2L3_%2C__%20_CDC2L2|"cell_%20_division_%20_cycle_%20_2-like_%20_2"_%2C__%20_"cell_%20_division_%20_cycle_%20_2-like_%20_2_%20_(PITSLRE_%20_proteins)"|PITSLRE_%2C__%20_CDK11-p110_%2C__%20_CDK11-p58_%2C__%20_CDK11-p46_%2C__%20_p58GTA||1p36.33|2016-06-08|2009-12-16|2016-06-08|AF067522||728642|ENSG00000008128|7920654_%2C__%20_9750192_%2C__%20_19884882|NM_024011|496|Cyclin_%20_dependent_%20_kinases|CCDS44042_%2C__%20_CCDS44043_%2C__%20_CCDS81253_%2C__%20_CCDS81254|OTTHUMG00000000703|728642|116951|NM_001313896|Q9UQ88|ENSG00000008128|uc009vks.4|CD11A_HUMAN||O95227_%7C_O95228_%7C_O96012_%7C_Q12821_%7C_Q12853_%7C_Q12854_%7C_Q2TAJ0_%7C_Q5QPR0_%7C_Q5QPR1_%7C_Q5QPR2_%7C_Q9UBC4_%7C_Q9UBI3_%7C_Q9UEI1_%7C_Q9UEI2_%7C_Q9UP53_%7C_Q9UP54_%7C_Q9UP55_%7C_Q9UP56_%7C_Q9UQ86_%7C_Q9UQ87_%7C_Q9UQ89|Q9UQ88|apoptotic_%20_process_%20_(GO:0006915)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0001558)_%7C_regulation_%20_of_%20_mRNA_%20_processing_%20_(GO:0050684)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004693)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||true|false|0.248_%2C_0.752|false|false|1||false|true|true|CDK11A:728642|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|909823|1647686|false|false|0|true|0|false||false|false|false|SNV|true|0x05010008000517053f000100|1|false|86|rs909823|] +1 1647780 var_1_1647780 C T . PASS FUNCOTATION=[CDK11A|hg19|chr1|1647780|1647780|INTRON||SNP|C|C|T|g.chr1:1647780C>T|ENST00000358779.5|-|||c.e5-5G>A|||0.47880299251870323|ACCCAGCCCACTCACCTTTCT|CDK11A_ENST00000356200.3_INTRON/CDK11A_ENST00000378633.1_INTRON/CDK11A_ENST00000404249.3_INTRON/CDK11A_ENST00000357760.2_INTRON/CDK11A_ENST00000378638.2_INTRON/CDK11A_ENST00000378635.3_INTRON/RP1-283E3.8_ENST00000598846.1_RNA|Pancreas(186_%3B_965_%20_2119_%20_30274_%20_40311_%20_50569)||||||||||||||||||||||||15|oesophagus(1)_%7C_stomach(14)|||||||U07705|NM_033529.2|NP_277071.2|HGNC:1730|cyclin_%20_dependent_%20_kinase_%20_11A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CDC2L3_%2C__%20_CDC2L2|"cell_%20_division_%20_cycle_%20_2-like_%20_2"_%2C__%20_"cell_%20_division_%20_cycle_%20_2-like_%20_2_%20_(PITSLRE_%20_proteins)"|PITSLRE_%2C__%20_CDK11-p110_%2C__%20_CDK11-p58_%2C__%20_CDK11-p46_%2C__%20_p58GTA||1p36.33|2016-06-08|2009-12-16|2016-06-08|AF067522||728642|ENSG00000008128|7920654_%2C__%20_9750192_%2C__%20_19884882|NM_024011|496|Cyclin_%20_dependent_%20_kinases|CCDS44042_%2C__%20_CCDS44043_%2C__%20_CCDS81253_%2C__%20_CCDS81254|OTTHUMG00000000703|728642|116951|NM_001313896|Q9UQ88|ENSG00000008128|uc009vks.4|CD11A_HUMAN||O95227_%7C_O95228_%7C_O96012_%7C_Q12821_%7C_Q12853_%7C_Q12854_%7C_Q2TAJ0_%7C_Q5QPR0_%7C_Q5QPR1_%7C_Q5QPR2_%7C_Q9UBC4_%7C_Q9UBI3_%7C_Q9UEI1_%7C_Q9UEI2_%7C_Q9UP53_%7C_Q9UP54_%7C_Q9UP55_%7C_Q9UP56_%7C_Q9UQ86_%7C_Q9UQ87_%7C_Q9UQ89|Q9UQ88|apoptotic_%20_process_%20_(GO:0006915)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0001558)_%7C_regulation_%20_of_%20_mRNA_%20_processing_%20_(GO:0050684)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004693)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|CDK11A:728642|false|true|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|370303160|1647780|false|false|0|false|0|false||false|false|false|SNV|true|0x050000080005040426000100|1|false|138|rs370303160|] +1 1647785 indel.249 CT C . PASS FUNCOTATION=[CDK11A|hg19|chr1|1647786|1647786|SPLICE_SITE|FRAME_SHIFT_DEL|DEL|T|T|-|g.chr1:1647786delT|ENST00000358779.5|-|5|538|c.457delA|c.(457-459)aggfs|p.R153fs|0.48129675810473815|CCCACTCACCTTTCTCTCCTG|CDK11A_ENST00000356200.3_SPLICE_SITE_p.R129fs/CDK11A_ENST00000378633.1_SPLICE_SITE_p.R153fs/CDK11A_ENST00000404249.3_SPLICE_SITE_p.R163fs/CDK11A_ENST00000357760.2_SPLICE_SITE_p.R153fs/CDK11A_ENST00000378638.2_SPLICE_SITE_p.R129fs/CDK11A_ENST00000378635.3_SPLICE_SITE_p.S153fs/RP1-283E3.8_ENST00000598846.1_SPLICE_SITE|Pancreas(186_%3B_965_%20_2119_%20_30274_%20_40311_%20_50569)||||||||||||||||||||||||15|oesophagus(1)_%7C_stomach(14)|||||||U07705|NM_033529.2|NP_277071.2|HGNC:1730|cyclin_%20_dependent_%20_kinase_%20_11A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CDC2L3_%2C__%20_CDC2L2|"cell_%20_division_%20_cycle_%20_2-like_%20_2"_%2C__%20_"cell_%20_division_%20_cycle_%20_2-like_%20_2_%20_(PITSLRE_%20_proteins)"|PITSLRE_%2C__%20_CDK11-p110_%2C__%20_CDK11-p58_%2C__%20_CDK11-p46_%2C__%20_p58GTA||1p36.33|2016-06-08|2009-12-16|2016-06-08|AF067522||728642|ENSG00000008128|7920654_%2C__%20_9750192_%2C__%20_19884882|NM_024011|496|Cyclin_%20_dependent_%20_kinases|CCDS44042_%2C__%20_CCDS44043_%2C__%20_CCDS81253_%2C__%20_CCDS81254|OTTHUMG00000000703|728642|116951|NM_001313896|Q9UQ88|ENSG00000008128|uc009vks.4|CD11A_HUMAN||O95227_%7C_O95228_%7C_O96012_%7C_Q12821_%7C_Q12853_%7C_Q12854_%7C_Q2TAJ0_%7C_Q5QPR0_%7C_Q5QPR1_%7C_Q5QPR2_%7C_Q9UBC4_%7C_Q9UBI3_%7C_Q9UEI1_%7C_Q9UEI2_%7C_Q9UP53_%7C_Q9UP54_%7C_Q9UP55_%7C_Q9UP56_%7C_Q9UQ86_%7C_Q9UQ87_%7C_Q9UQ89|Q9UQ88|apoptotic_%20_process_%20_(GO:0006915)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0001558)_%7C_regulation_%20_of_%20_mRNA_%20_processing_%20_(GO:0050684)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004693)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||true|false||false|false|||false|false|false|CDK11A:728642|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|748188287|1647786|false|false|0|false|0|false||false|false|true|DIV|false|0x050000401205000402000200|1|false|144|rs748188287|] +1 1647785 indel.249 CT C . PASS FUNCOTATION=[CDK11A|hg19|chr1|1647786|1647786|SPLICE_SITE|FRAME_SHIFT_DEL|DEL|T|T|-|g.chr1:1647786delT|ENST00000358779.5|-|5|538|c.457delA|c.(457-459)aggfs|p.R153fs|0.48129675810473815|CCCACTCACCTTTCTCTCCTG|CDK11A_ENST00000356200.3_SPLICE_SITE_p.R129fs/CDK11A_ENST00000378633.1_SPLICE_SITE_p.R153fs/CDK11A_ENST00000404249.3_SPLICE_SITE_p.R163fs/CDK11A_ENST00000357760.2_SPLICE_SITE_p.R153fs/CDK11A_ENST00000378638.2_SPLICE_SITE_p.R129fs/CDK11A_ENST00000378635.3_SPLICE_SITE_p.S153fs/RP1-283E3.8_ENST00000598846.1_SPLICE_SITE|Pancreas(186_%3B_965_%20_2119_%20_30274_%20_40311_%20_50569)||||||||||||||||||||||||15|oesophagus(1)_%7C_stomach(14)|||||||U07705|NM_033529.2|NP_277071.2|HGNC:1730|cyclin_%20_dependent_%20_kinase_%20_11A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CDC2L3_%2C__%20_CDC2L2|"cell_%20_division_%20_cycle_%20_2-like_%20_2"_%2C__%20_"cell_%20_division_%20_cycle_%20_2-like_%20_2_%20_(PITSLRE_%20_proteins)"|PITSLRE_%2C__%20_CDK11-p110_%2C__%20_CDK11-p58_%2C__%20_CDK11-p46_%2C__%20_p58GTA||1p36.33|2016-06-08|2009-12-16|2016-06-08|AF067522||728642|ENSG00000008128|7920654_%2C__%20_9750192_%2C__%20_19884882|NM_024011|496|Cyclin_%20_dependent_%20_kinases|CCDS44042_%2C__%20_CCDS44043_%2C__%20_CCDS81253_%2C__%20_CCDS81254|OTTHUMG00000000703|728642|116951|NM_001313896|Q9UQ88|ENSG00000008128|uc009vks.4|CD11A_HUMAN||O95227_%7C_O95228_%7C_O96012_%7C_Q12821_%7C_Q12853_%7C_Q12854_%7C_Q2TAJ0_%7C_Q5QPR0_%7C_Q5QPR1_%7C_Q5QPR2_%7C_Q9UBC4_%7C_Q9UBI3_%7C_Q9UEI1_%7C_Q9UEI2_%7C_Q9UP53_%7C_Q9UP54_%7C_Q9UP55_%7C_Q9UP56_%7C_Q9UQ86_%7C_Q9UQ87_%7C_Q9UQ89|Q9UQ88|apoptotic_%20_process_%20_(GO:0006915)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0001558)_%7C_regulation_%20_of_%20_mRNA_%20_processing_%20_(GO:0050684)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004693)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||true|false||false|false|||false|false|false|CDK11A:728642|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|748188287|1647786|false|false|0|false|0|false||false|false|true|DIV|false|0x050000401205000402000200|1|false|144|rs748188287|] +1 1647858 var_1_1647858 G A . PASS FUNCOTATION=[CDK11A|hg19|chr1|1647858|1647858|NONSENSE||SNP|G|G|A|g.chr1:1647858G>A|ENST00000358779.5|-|5|465|c.385C>T|c.(385-387)Cag>Tag|p.Q129*|0.4912718204488778|GCTTTATCCTGTTCTTCTCGA|CDK11A_ENST00000356200.3_NONSENSE_p.Q105*/CDK11A_ENST00000378633.1_NONSENSE_p.Q129*/CDK11A_ENST00000404249.3_NONSENSE_p.Q139*/CDK11A_ENST00000357760.2_NONSENSE_p.Q129*/CDK11A_ENST00000378638.2_NONSENSE_p.Q105*/CDK11A_ENST00000378635.3_NONSENSE_p.Q129*/RP1-283E3.8_ENST00000598846.1_RNA|Pancreas(186_%3B_965_%20_2119_%20_30274_%20_40311_%20_50569)||||||||||||||||||||||||15|oesophagus(1)_%7C_stomach(14)|||||||U07705|NM_033529.2|NP_277071.2|HGNC:1730|cyclin_%20_dependent_%20_kinase_%20_11A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CDC2L3_%2C__%20_CDC2L2|"cell_%20_division_%20_cycle_%20_2-like_%20_2"_%2C__%20_"cell_%20_division_%20_cycle_%20_2-like_%20_2_%20_(PITSLRE_%20_proteins)"|PITSLRE_%2C__%20_CDK11-p110_%2C__%20_CDK11-p58_%2C__%20_CDK11-p46_%2C__%20_p58GTA||1p36.33|2016-06-08|2009-12-16|2016-06-08|AF067522||728642|ENSG00000008128|7920654_%2C__%20_9750192_%2C__%20_19884882|NM_024011|496|Cyclin_%20_dependent_%20_kinases|CCDS44042_%2C__%20_CCDS44043_%2C__%20_CCDS81253_%2C__%20_CCDS81254|OTTHUMG00000000703|728642|116951|NM_001313896|Q9UQ88|ENSG00000008128|uc009vks.4|CD11A_HUMAN||O95227_%7C_O95228_%7C_O96012_%7C_Q12821_%7C_Q12853_%7C_Q12854_%7C_Q2TAJ0_%7C_Q5QPR0_%7C_Q5QPR1_%7C_Q5QPR2_%7C_Q9UBC4_%7C_Q9UBI3_%7C_Q9UEI1_%7C_Q9UEI2_%7C_Q9UP53_%7C_Q9UP54_%7C_Q9UP55_%7C_Q9UP56_%7C_Q9UQ86_%7C_Q9UQ87_%7C_Q9UQ89|Q9UQ88|apoptotic_%20_process_%20_(GO:0006915)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0001558)_%7C_regulation_%20_of_%20_mRNA_%20_processing_%20_(GO:0050684)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004693)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|CDK11A:728642|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|201054761|1647858|false|false|0|false|0|false|0.999897_%2C_0.000103277|false|false|true|SNV|true|0x050000400605040436000100|1|false|137|rs201054761|] +1 1650787 exm4399 T C . PASS FUNCOTATION=[CDK11A|hg19|chr1|1650787|1650787|INTRON||SNP|T|T|C|g.chr1:1650787T>C|ENST00000358779.5|-|||c.e4-10A>G|||0.4164588528678304|TGAATGGCTATGATGCCTACA|CDK11A_ENST00000356200.3_MISSENSE_p.H78R/CDK11A_ENST00000404249.3_MISSENSE_p.H112R/CDK11A_ENST00000378638.2_MISSENSE_p.H78R/CDK11A_ENST00000378633.1_INTRON/CDK11A_ENST00000357760.2_INTRON/CDK11A_ENST00000378635.3_INTRON/RP1-283E3.8_ENST00000598846.1_RNA|Pancreas(186_%3B_965_%20_2119_%20_30274_%20_40311_%20_50569)||||||||||||||||||||||||15|oesophagus(1)_%7C_stomach(14)|||||||U07705|NM_033529.2|NP_277071.2|HGNC:1730|cyclin_%20_dependent_%20_kinase_%20_11A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CDC2L3_%2C__%20_CDC2L2|"cell_%20_division_%20_cycle_%20_2-like_%20_2"_%2C__%20_"cell_%20_division_%20_cycle_%20_2-like_%20_2_%20_(PITSLRE_%20_proteins)"|PITSLRE_%2C__%20_CDK11-p110_%2C__%20_CDK11-p58_%2C__%20_CDK11-p46_%2C__%20_p58GTA||1p36.33|2016-06-08|2009-12-16|2016-06-08|AF067522||728642|ENSG00000008128|7920654_%2C__%20_9750192_%2C__%20_19884882|NM_024011|496|Cyclin_%20_dependent_%20_kinases|CCDS44042_%2C__%20_CCDS44043_%2C__%20_CCDS81253_%2C__%20_CCDS81254|OTTHUMG00000000703|728642|116951|NM_001313896|Q9UQ88|ENSG00000008128|uc009vks.4|CD11A_HUMAN||O95227_%7C_O95228_%7C_O96012_%7C_Q12821_%7C_Q12853_%7C_Q12854_%7C_Q2TAJ0_%7C_Q5QPR0_%7C_Q5QPR1_%7C_Q5QPR2_%7C_Q9UBC4_%7C_Q9UBI3_%7C_Q9UEI1_%7C_Q9UEI2_%7C_Q9UP53_%7C_Q9UP54_%7C_Q9UP55_%7C_Q9UP56_%7C_Q9UQ86_%7C_Q9UQ87_%7C_Q9UQ89|Q9UQ88|apoptotic_%20_process_%20_(GO:0006915)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0001558)_%7C_regulation_%20_of_%20_mRNA_%20_processing_%20_(GO:0050684)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004693)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||true|false||false|false|||false|true|true|CDK11A:728642|true|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|1137003|1650787|false|false|0|true|16|false|0.999966_%2C_3.44234e-005|false|false|true|SNV|true|0x050100480a05070516000140|1|false|130|rs1137003|] +1 1663831 rs3817856 C T . PASS FUNCOTATION=[SLC35E2|hg19|chr1|1663831|1663831|INTRON||SNP|C|C|T|g.chr1:1663831C>T|ENST00000355439.2|-|||c.e6-2298G>A|||0.516209476309227|CAGGAGACCACCATGAGTTCC|SLC35E2_ENST00000246421.4_THREE_PRIME_UTR/SLC35E2_ENST00000400924.1_INTRON/RP1-283E3.8_ENST00000598846.1_RNA/SLC35E2_ENST00000475229.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112289|NM_001199787.1|NP_001186716.1|HGNC:20863|solute_%20_carrier_%20_family_%20_35_%20_member_%20_E2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_35_%2C__%20_member_%20_E2"|KIAA0447||1p36.33|2015-12-04||2015-12-04|AB007916||9906|ENSG00000215790||XM_049733|752|Solute_%20_carriers|CCDS33_%2C__%20_CCDS55560|OTTHUMG00000000823|9906||NM_001199787|P0CK97|ENSG00000215790|uc001aia.3|S35E2_HUMAN||B3KWR0_%7C_O75035_%7C_Q2TAY8_%7C_Q569F8_%7C_Q5CZA4_%7C_Q5QPR8_%7C_Q9Y3J8|P0CK97||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.7141_%2C_0.2859|false|false|1||false|true|false|LOC101928920:101928920_%7C_SLC35E2:9906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3817856|1663831|false|false|0|true|0|false||false|true|false|SNV|true|0x0501008a000515053f000101|1|false|107|rs3817856|] +1 1663944 exm4428 G A . PASS FUNCOTATION=[SLC35E2|hg19|chr1|1663944|1663944|INTRON||SNP|G|G|A|g.chr1:1663944G>A|ENST00000355439.2|-|||c.e6-2185C>T|||0.571072319201995|AAGGCGACTCGGTGCAGGGCC|SLC35E2_ENST00000246421.4_NONSENSE_p.R251*/SLC35E2_ENST00000400924.1_INTRON/RP1-283E3.8_ENST00000598846.1_RNA/SLC35E2_ENST00000475229.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112289|NM_001199787.1|NP_001186716.1|HGNC:20863|solute_%20_carrier_%20_family_%20_35_%20_member_%20_E2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_35_%2C__%20_member_%20_E2"|KIAA0447||1p36.33|2015-12-04||2015-12-04|AB007916||9906|ENSG00000215790||XM_049733|752|Solute_%20_carriers|CCDS33_%2C__%20_CCDS55560|OTTHUMG00000000823|9906||NM_001199787|P0CK97|ENSG00000215790|uc001aia.3|S35E2_HUMAN||B3KWR0_%7C_O75035_%7C_Q2TAY8_%7C_Q569F8_%7C_Q5CZA4_%7C_Q5QPR8_%7C_Q9Y3J8|P0CK97||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|LOC101928920:101928920_%7C_SLC35E2:9906|false|true|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|146969326|1663944|false|false|0|false|0|false|0.998589_%2C_0.00141058|false|false|false|SNV|true|0x0500000a0605040436000100|1|false|134|rs146969326|] +1 1664019 rs2294488 T C . PASS FUNCOTATION=[SLC35E2|hg19|chr1|1664019|1664019|INTRON||SNP|T|T|C|g.chr1:1664019T>C|ENST00000355439.2|-|||c.e6-2110A>G|||0.5610972568578554|GCTGCGTGCGTGGTGCACAGC|SLC35E2_ENST00000246421.4_INTRON/SLC35E2_ENST00000400924.1_INTRON/RP1-283E3.8_ENST00000598846.1_RNA/SLC35E2_ENST00000475229.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112289|NM_001199787.1|NP_001186716.1|HGNC:20863|solute_%20_carrier_%20_family_%20_35_%20_member_%20_E2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_35_%2C__%20_member_%20_E2"|KIAA0447||1p36.33|2015-12-04||2015-12-04|AB007916||9906|ENSG00000215790||XM_049733|752|Solute_%20_carriers|CCDS33_%2C__%20_CCDS55560|OTTHUMG00000000823|9906||NM_001199787|P0CK97|ENSG00000215790|uc001aia.3|S35E2_HUMAN||B3KWR0_%7C_O75035_%7C_Q2TAY8_%7C_Q569F8_%7C_Q5CZA4_%7C_Q5QPR8_%7C_Q9Y3J8|P0CK97||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.3131_%2C_0.6869|false|false|1||false|true|true|LOC101928920:101928920_%7C_SLC35E2:9906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|2294488|1664019|false|false|0|true|0|false||false|false|false|SNV|true|0x0501000a000517053f000100|1|false|100|rs2294488|] +1 1664124 exm2268858 T C . PASS FUNCOTATION=[SLC35E2|hg19|chr1|1664124|1664124|INTRON||SNP|T|T|C|g.chr1:1664124T>C|ENST00000355439.2|-|||c.e6-2005A>G|||0.5386533665835411|TGTCCACCATTCCCGCCAGCC|SLC35E2_ENST00000246421.4_INTRON/SLC35E2_ENST00000400924.1_INTRON/RP1-283E3.8_ENST00000598846.1_RNA/SLC35E2_ENST00000475229.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112289|NM_001199787.1|NP_001186716.1|HGNC:20863|solute_%20_carrier_%20_family_%20_35_%20_member_%20_E2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_35_%2C__%20_member_%20_E2"|KIAA0447||1p36.33|2015-12-04||2015-12-04|AB007916||9906|ENSG00000215790||XM_049733|752|Solute_%20_carriers|CCDS33_%2C__%20_CCDS55560|OTTHUMG00000000823|9906||NM_001199787|P0CK97|ENSG00000215790|uc001aia.3|S35E2_HUMAN||B3KWR0_%7C_O75035_%7C_Q2TAY8_%7C_Q569F8_%7C_Q5CZA4_%7C_Q5QPR8_%7C_Q9Y3J8|P0CK97||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.4091_%2C_0.5909|false|false|1||false|true|false|SLC35E2:9906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2294489|1664124|false|false|0|true|0|false||false|false|false|SNV|true|0x05010008000515053f000100|1|false|100|rs2294489|] +1 1680219 rs1014988 G A . PASS FUNCOTATION=[SLC35E2|hg19|chr1|1680219|1680219|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:1680219G>A|ENST00000246421.4|-||||||0.516209476309227|GGGTCCAGGCGCTGTGCAAAC|SLC35E2_ENST00000355439.2_FIVE_PRIME_FLANK/SLC35E2_ENST00000400924.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112289|NM_182838.2|NP_878258.1|HGNC:20863|solute_%20_carrier_%20_family_%20_35_%20_member_%20_E2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_35_%2C__%20_member_%20_E2"|KIAA0447||1p36.33|2015-12-04||2015-12-04|AB007916||9906|ENSG00000215790||XM_049733|752|Solute_%20_carriers|CCDS33_%2C__%20_CCDS55560|OTTHUMG00000000823|9906||NM_001199787|P0CK97|ENSG00000215790|uc001aia.3|S35E2_HUMAN||B3KWR0_%7C_O75035_%7C_Q2TAY8_%7C_Q569F8_%7C_Q5CZA4_%7C_Q5QPR8_%7C_Q9Y3J8|P0CK97||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1684472 rs7407 C T . PASS FUNCOTATION=[NADK|hg19|chr1|1684472|1684472|SILENT||SNP|C|C|T|g.chr1:1684472C>T|ENST00000344463.4|-|14|1869|c.1647G>A|c.(1645-1647)ccG>ccA|p.P549P|0.6533665835411472|TGGAGGGGAGCGGGTAGCATG|NADK_ENST00000378625.1_SILENT_p.P549P/NADK_ENST00000341426.5_SILENT_p.P404P/NADK_ENST00000341991.3_SILENT_p.P404P/NADK_ENST00000342348.5_SILENT_p.P372P|||||||||||||||||||||||||45|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_salivary_gland(1)|||||||CH471183|||HGNC:29831|NAD_%20_kinase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13052||1p36.33|2014-11-19|||BC001709|2.7.1.23|65220|ENSG00000008130|11594753|NM_023018|||CCDS30565_%2C__%20_CCDS55561_%2C__%20_CCDS55562|OTTHUMG00000000942|65220|611616|NM_001198993|O95544|ENSG00000008130|uc001aid.5|NADK_HUMAN||A6NNN3_%7C_A8K296_%7C_B7Z434_%7C_F5GXR5_%7C_Q5QPS4_%7C_Q9H2P2_%7C_Q9H931|O95544|ATP_%20_metabolic_%20_process_%20_(GO:0046034)_%7C_NAD_%20_metabolic_%20_process_%20_(GO:0019674)_%7C_NADP_%20_biosynthetic_%20_process_%20_(GO:0006741)_%7C_phosphorylation_%20_(GO:0016310)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)|ATP_%20_binding_%20_(GO:0005524)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_NAD+_%20_kinase_%20_activity_%20_(GO:0003951)||||true|false|0.6603_%2C_0.3397|false|false|1||false|true|false|NADK:65220|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|7407|1684472|true|true|0|true|0|true|0.650972_%2C_0.349028|false|false|false|SNV|true|0x05030000030515053f000100|1|false|52|rs7407|] +1 1688096 exm4521 C T . PASS FUNCOTATION=[NADK|hg19|chr1|1688096|1688096|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1688096C>T|ENST00000344463.4|-|7|1002|c.780G>A|c.(778-780)ccG>ccA|p.P260P|0.5660847880299252|ACCCCACCCTCCTGCAGGGAG|NADK_ENST00000378625.1_SPLICE_SITE_p.P260P/NADK_ENST00000341426.5_INTRON/NADK_ENST00000341991.3_INTRON/NADK_ENST00000342348.5_INTRON/NADK_ENST00000492768.1_INTRON|||||||||||||||||||||||||45|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_salivary_gland(1)|||||||CH471183|||HGNC:29831|NAD_%20_kinase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13052||1p36.33|2014-11-19|||BC001709|2.7.1.23|65220|ENSG00000008130|11594753|NM_023018|||CCDS30565_%2C__%20_CCDS55561_%2C__%20_CCDS55562|OTTHUMG00000000942|65220|611616|NM_001198993|O95544|ENSG00000008130|uc001aid.5|NADK_HUMAN||A6NNN3_%7C_A8K296_%7C_B7Z434_%7C_F5GXR5_%7C_Q5QPS4_%7C_Q9H2P2_%7C_Q9H931|O95544|ATP_%20_metabolic_%20_process_%20_(GO:0046034)_%7C_NAD_%20_metabolic_%20_process_%20_(GO:0019674)_%7C_NADP_%20_biosynthetic_%20_process_%20_(GO:0006741)_%7C_phosphorylation_%20_(GO:0016310)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)|ATP_%20_binding_%20_(GO:0005524)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_NAD+_%20_kinase_%20_activity_%20_(GO:0003951)||||true|false|0.997_%2C_0.002995|false|false|1||false|false|false|NADK:65220|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|72634841|1688096|false|true|0|false|0|true|0.997115_%2C_0.00288481|false|false|false|SNV|true|0x05020008030504043e000100|1|false|130|rs72634841|] +1 1688096 exm4521 C T . PASS FUNCOTATION=[NADK|hg19|chr1|1688096|1688096|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1688096C>T|ENST00000344463.4|-|7|1002|c.780G>A|c.(778-780)ccG>ccA|p.P260P|0.5660847880299252|ACCCCACCCTCCTGCAGGGAG|NADK_ENST00000378625.1_SPLICE_SITE_p.P260P/NADK_ENST00000341426.5_INTRON/NADK_ENST00000341991.3_INTRON/NADK_ENST00000342348.5_INTRON/NADK_ENST00000492768.1_INTRON|||||||||||||||||||||||||45|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_salivary_gland(1)|||||||CH471183|||HGNC:29831|NAD_%20_kinase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13052||1p36.33|2014-11-19|||BC001709|2.7.1.23|65220|ENSG00000008130|11594753|NM_023018|||CCDS30565_%2C__%20_CCDS55561_%2C__%20_CCDS55562|OTTHUMG00000000942|65220|611616|NM_001198993|O95544|ENSG00000008130|uc001aid.5|NADK_HUMAN||A6NNN3_%7C_A8K296_%7C_B7Z434_%7C_F5GXR5_%7C_Q5QPS4_%7C_Q9H2P2_%7C_Q9H931|O95544|ATP_%20_metabolic_%20_process_%20_(GO:0046034)_%7C_NAD_%20_metabolic_%20_process_%20_(GO:0019674)_%7C_NADP_%20_biosynthetic_%20_process_%20_(GO:0006741)_%7C_phosphorylation_%20_(GO:0016310)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)|ATP_%20_binding_%20_(GO:0005524)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_NAD+_%20_kinase_%20_activity_%20_(GO:0003951)||||true|false|0.997_%2C_0.002995|false|false|1||false|false|false|NADK:65220|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|72634841|1688096|false|true|0|false|0|true|0.997115_%2C_0.00288481|false|false|false|SNV|true|0x05020008030504043e000100|1|false|130|rs72634841|] +1 1706136 rs6603811 T C . PASS FUNCOTATION=[NADK|hg19|chr1|1706136|1706136|INTRON||SNP|T|T|C|g.chr1:1706136T>C|ENST00000344463.4|-|||c.e1-3592A>G|||0.5486284289276808|TTGACAAGGGTGAGTCAGGAC|NADK_ENST00000378625.1_INTRON/NADK_ENST00000341426.5_INTRON/NADK_ENST00000341991.3_INTRON/NADK_ENST00000492768.1_INTRON|||||||||||||||||||||||||45|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_salivary_gland(1)|||||||CH471183|||HGNC:29831|NAD_%20_kinase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13052||1p36.33|2014-11-19|||BC001709|2.7.1.23|65220|ENSG00000008130|11594753|NM_023018|||CCDS30565_%2C__%20_CCDS55561_%2C__%20_CCDS55562|OTTHUMG00000000942|65220|611616|NM_001198993|O95544|ENSG00000008130|uc001aid.5|NADK_HUMAN||A6NNN3_%7C_A8K296_%7C_B7Z434_%7C_F5GXR5_%7C_Q5QPS4_%7C_Q9H2P2_%7C_Q9H931|O95544|ATP_%20_metabolic_%20_process_%20_(GO:0046034)_%7C_NAD_%20_metabolic_%20_process_%20_(GO:0019674)_%7C_NADP_%20_biosynthetic_%20_process_%20_(GO:0006741)_%7C_phosphorylation_%20_(GO:0016310)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)|ATP_%20_binding_%20_(GO:0005524)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_NAD+_%20_kinase_%20_activity_%20_(GO:0003951)||||true|false|0.2534_%2C_0.7466|false|false|1||false|true|false|NADK:65220|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6603811|1706136|false|false|0|true|0|false|0.237688_%2C_0.762312|false|false|false|SNV|true|0x05010008000515053f000100|1|false|116|rs6603811|] +1 1707740 rs12041925 T G . PASS FUNCOTATION=[NADK|hg19|chr1|1707740|1707740|INTRON||SNP|T|T|G|g.chr1:1707740T>G|ENST00000344463.4|-|||c.e1-1988A>C|||0.4513715710723192|GCCAACTTTCTGGGACACCCT|NADK_ENST00000378625.1_INTRON/NADK_ENST00000341426.5_INTRON/NADK_ENST00000341991.3_INTRON/NADK_ENST00000492768.1_INTRON|||||||||||||||||||||||||45|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_salivary_gland(1)|||||||CH471183|||HGNC:29831|NAD_%20_kinase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13052||1p36.33|2014-11-19|||BC001709|2.7.1.23|65220|ENSG00000008130|11594753|NM_023018|||CCDS30565_%2C__%20_CCDS55561_%2C__%20_CCDS55562|OTTHUMG00000000942|65220|611616|NM_001198993|O95544|ENSG00000008130|uc001aid.5|NADK_HUMAN||A6NNN3_%7C_A8K296_%7C_B7Z434_%7C_F5GXR5_%7C_Q5QPS4_%7C_Q9H2P2_%7C_Q9H931|O95544|ATP_%20_metabolic_%20_process_%20_(GO:0046034)_%7C_NAD_%20_metabolic_%20_process_%20_(GO:0019674)_%7C_NADP_%20_biosynthetic_%20_process_%20_(GO:0006741)_%7C_phosphorylation_%20_(GO:0016310)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)|ATP_%20_binding_%20_(GO:0005524)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_NAD+_%20_kinase_%20_activity_%20_(GO:0003951)||||true|false|0.8019_%2C_0.1981|false|false|1||false|true|true|NADK:65220|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|12041925|1707740|false|false|0|true|0|false|0.749193_%2C_0.250807|false|false|false|SNV|true|0x05010008000517053f000100|1|false|120|rs12041925|] +1 1715011 rs742359 C A . PASS FUNCOTATION=[NADK|hg19|chr1|1715011|1715011|FIVE_PRIME_FLANK||SNP|C|C|A|g.chr1:1715011C>A|ENST00000341991.3|-||||||0.600997506234414|CAGCACCTTGCCTGGAGCAGG|NADK_ENST00000378625.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||45|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_salivary_gland(1)|||||||CH471183|NM_001198993.1|NP_001185922.1|HGNC:29831|NAD_%20_kinase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13052||1p36.33|2014-11-19|||BC001709|2.7.1.23|65220|ENSG00000008130|11594753|NM_023018|||CCDS30565_%2C__%20_CCDS55561_%2C__%20_CCDS55562|OTTHUMG00000000942|65220|611616|NM_001198993|O95544|ENSG00000008130|uc001aid.5|NADK_HUMAN||A6NNN3_%7C_A8K296_%7C_B7Z434_%7C_F5GXR5_%7C_Q5QPS4_%7C_Q9H2P2_%7C_Q9H931|O95544|ATP_%20_metabolic_%20_process_%20_(GO:0046034)_%7C_NAD_%20_metabolic_%20_process_%20_(GO:0019674)_%7C_NADP_%20_biosynthetic_%20_process_%20_(GO:0006741)_%7C_phosphorylation_%20_(GO:0016310)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)|ATP_%20_binding_%20_(GO:0005524)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_NAD+_%20_kinase_%20_activity_%20_(GO:0003951)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1720670 exm2250243 G A . PASS FUNCOTATION=[GNB1|hg19|chr1|1720670|1720670|SILENT||SNP|G|G|A|g.chr1:1720670G>A|ENST00000378609.4|-|10|1070|c.738C>T|c.(736-738)gaC>gaT|p.D246D|0.5411471321695761|AGGTGGCGTCGTCTGAGCCAG||||||||||||||||||||||||||269|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(86)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X04526|NM_002074.3|NP_002065.1|HGNC:4396|G_%20_protein_%20_subunit_%20_beta_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"guanine_%20_nucleotide_%20_binding_%20_protein_%20_(G_%20_protein)_%2C__%20_beta_%20_polypeptide_%20_1"||"transducin_%20_beta_%20_chain_%20_1"_%2C__%20_"guanine_%20_nucleotide-binding_%20_protein_%20_G(I)/G(S)/G(T)_%20_subunit_%20_beta-1"|1p36.33|2017-04-12||2016-03-03|BC004186||2782|ENSG00000078369||NM_002074|1430_%7C_362|G_%20_protein_%20_subunits_%20_beta_%7C_WD_%20_repeat_%20_domain_%20_containing|CCDS34_%2C__%20_CCDS72685|OTTHUMG00000000940|2782|139380|NM_001282538|P62873|ENSG00000078369|uc031tmu.1|GBB1_HUMAN||B1AJZ7_%7C_P04697_%7C_P04901_%7C_Q1RMY8|P62873|adenylate_%20_cyclase-activating_%20_dopamine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007191)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cellular_%20_response_%20_to_%20_catecholamine_%20_stimulus_%20_(GO:0071870)_%7C_cellular_%20_response_%20_to_%20_glucagon_%20_stimulus_%20_(GO:0071377)_%7C_cellular_%20_response_%20_to_%20_prostaglandin_%20_E_%20_stimulus_%20_(GO:0071380)_%7C_energy_%20_reserve_%20_metabolic_%20_process_%20_(GO:0006112)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_GTP_%20_catabolic_%20_process_%20_(GO:0006184)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_Ras_%20_protein_%20_signal_%20_transduction_%20_(GO:0007265)_%7C_regulation_%20_of_%20_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0022400)_%7C_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0016056)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_heterotrimeric_%20_G-protein_%20_complex_%20_(GO:0005834)_%7C_intracellular_%20_(GO:0005622)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_membrane_%20_(GO:0016020)_%7C_photoreceptor_%20_disc_%20_membrane_%20_(GO:0097381)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|GTPase_%20_activity_%20_(GO:0003924)_%7C_GTPase_%20_binding_%20_(GO:0051020)_%7C_protein_%20_complex_%20_binding_%20_(GO:0032403)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1766856 psy_rs114622732 A G . PASS FUNCOTATION=[GNB1|hg19|chr1|1766856|1766856|INTRON||SNP|A|A|G|g.chr1:1766856A>G|ENST00000378609.4|-|||c.e2-3773T>C|||0.456359102244389|ATTAGAATCCATGCAAGCCCC|GNB1_ENST00000472614.2_INTRON|||||||||||||||||||||||||269|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(86)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X04526|NM_002074.3|NP_002065.1|HGNC:4396|G_%20_protein_%20_subunit_%20_beta_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"guanine_%20_nucleotide_%20_binding_%20_protein_%20_(G_%20_protein)_%2C__%20_beta_%20_polypeptide_%20_1"||"transducin_%20_beta_%20_chain_%20_1"_%2C__%20_"guanine_%20_nucleotide-binding_%20_protein_%20_G(I)/G(S)/G(T)_%20_subunit_%20_beta-1"|1p36.33|2017-04-12||2016-03-03|BC004186||2782|ENSG00000078369||NM_002074|1430_%7C_362|G_%20_protein_%20_subunits_%20_beta_%7C_WD_%20_repeat_%20_domain_%20_containing|CCDS34_%2C__%20_CCDS72685|OTTHUMG00000000940|2782|139380|NM_001282538|P62873|ENSG00000078369|uc031tmu.1|GBB1_HUMAN||B1AJZ7_%7C_P04697_%7C_P04901_%7C_Q1RMY8|P62873|adenylate_%20_cyclase-activating_%20_dopamine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007191)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cellular_%20_response_%20_to_%20_catecholamine_%20_stimulus_%20_(GO:0071870)_%7C_cellular_%20_response_%20_to_%20_glucagon_%20_stimulus_%20_(GO:0071377)_%7C_cellular_%20_response_%20_to_%20_prostaglandin_%20_E_%20_stimulus_%20_(GO:0071380)_%7C_energy_%20_reserve_%20_metabolic_%20_process_%20_(GO:0006112)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_GTP_%20_catabolic_%20_process_%20_(GO:0006184)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_Ras_%20_protein_%20_signal_%20_transduction_%20_(GO:0007265)_%7C_regulation_%20_of_%20_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0022400)_%7C_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0016056)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_heterotrimeric_%20_G-protein_%20_complex_%20_(GO:0005834)_%7C_intracellular_%20_(GO:0005622)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_membrane_%20_(GO:0016020)_%7C_photoreceptor_%20_disc_%20_membrane_%20_(GO:0097381)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|GTPase_%20_activity_%20_(GO:0003924)_%7C_GTPase_%20_binding_%20_(GO:0051020)_%7C_protein_%20_complex_%20_binding_%20_(GO:0032403)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1776269 rs4648727 C A . PASS FUNCOTATION=[GNB1|hg19|chr1|1776269|1776269|INTRON||SNP|C|C|A|g.chr1:1776269C>A|ENST00000378609.4|-|||c.e2+5592G>T|||0.3940149625935162|GTGTGGTGCACATGTAACATA|GNB1_ENST00000472614.2_INTRON|||||||||||||||||||||||||269|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(86)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X04526|NM_002074.3|NP_002065.1|HGNC:4396|G_%20_protein_%20_subunit_%20_beta_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"guanine_%20_nucleotide_%20_binding_%20_protein_%20_(G_%20_protein)_%2C__%20_beta_%20_polypeptide_%20_1"||"transducin_%20_beta_%20_chain_%20_1"_%2C__%20_"guanine_%20_nucleotide-binding_%20_protein_%20_G(I)/G(S)/G(T)_%20_subunit_%20_beta-1"|1p36.33|2017-04-12||2016-03-03|BC004186||2782|ENSG00000078369||NM_002074|1430_%7C_362|G_%20_protein_%20_subunits_%20_beta_%7C_WD_%20_repeat_%20_domain_%20_containing|CCDS34_%2C__%20_CCDS72685|OTTHUMG00000000940|2782|139380|NM_001282538|P62873|ENSG00000078369|uc031tmu.1|GBB1_HUMAN||B1AJZ7_%7C_P04697_%7C_P04901_%7C_Q1RMY8|P62873|adenylate_%20_cyclase-activating_%20_dopamine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007191)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cellular_%20_response_%20_to_%20_catecholamine_%20_stimulus_%20_(GO:0071870)_%7C_cellular_%20_response_%20_to_%20_glucagon_%20_stimulus_%20_(GO:0071377)_%7C_cellular_%20_response_%20_to_%20_prostaglandin_%20_E_%20_stimulus_%20_(GO:0071380)_%7C_energy_%20_reserve_%20_metabolic_%20_process_%20_(GO:0006112)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_GTP_%20_catabolic_%20_process_%20_(GO:0006184)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_Ras_%20_protein_%20_signal_%20_transduction_%20_(GO:0007265)_%7C_regulation_%20_of_%20_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0022400)_%7C_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0016056)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_heterotrimeric_%20_G-protein_%20_complex_%20_(GO:0005834)_%7C_intracellular_%20_(GO:0005622)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_membrane_%20_(GO:0016020)_%7C_photoreceptor_%20_disc_%20_membrane_%20_(GO:0097381)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|GTPase_%20_activity_%20_(GO:0003924)_%7C_GTPase_%20_binding_%20_(GO:0051020)_%7C_protein_%20_complex_%20_binding_%20_(GO:0032403)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1804302 rs3855951 C T . PASS FUNCOTATION=[GNB1|hg19|chr1|1804302|1804302|INTRON||SNP|C|C|T|g.chr1:1804302C>T|ENST00000378609.4|-|||c.e1-17957G>A|||0.456359102244389|AAAGTAAGTACTTGGTAAATA|GNB1_ENST00000472614.2_INTRON|||||||||||||||||||||||||269|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(86)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X04526|NM_002074.3|NP_002065.1|HGNC:4396|G_%20_protein_%20_subunit_%20_beta_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"guanine_%20_nucleotide_%20_binding_%20_protein_%20_(G_%20_protein)_%2C__%20_beta_%20_polypeptide_%20_1"||"transducin_%20_beta_%20_chain_%20_1"_%2C__%20_"guanine_%20_nucleotide-binding_%20_protein_%20_G(I)/G(S)/G(T)_%20_subunit_%20_beta-1"|1p36.33|2017-04-12||2016-03-03|BC004186||2782|ENSG00000078369||NM_002074|1430_%7C_362|G_%20_protein_%20_subunits_%20_beta_%7C_WD_%20_repeat_%20_domain_%20_containing|CCDS34_%2C__%20_CCDS72685|OTTHUMG00000000940|2782|139380|NM_001282538|P62873|ENSG00000078369|uc031tmu.1|GBB1_HUMAN||B1AJZ7_%7C_P04697_%7C_P04901_%7C_Q1RMY8|P62873|adenylate_%20_cyclase-activating_%20_dopamine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007191)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cellular_%20_response_%20_to_%20_catecholamine_%20_stimulus_%20_(GO:0071870)_%7C_cellular_%20_response_%20_to_%20_glucagon_%20_stimulus_%20_(GO:0071377)_%7C_cellular_%20_response_%20_to_%20_prostaglandin_%20_E_%20_stimulus_%20_(GO:0071380)_%7C_energy_%20_reserve_%20_metabolic_%20_process_%20_(GO:0006112)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_GTP_%20_catabolic_%20_process_%20_(GO:0006184)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_Ras_%20_protein_%20_signal_%20_transduction_%20_(GO:0007265)_%7C_regulation_%20_of_%20_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0022400)_%7C_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0016056)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_heterotrimeric_%20_G-protein_%20_complex_%20_(GO:0005834)_%7C_intracellular_%20_(GO:0005622)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_membrane_%20_(GO:0016020)_%7C_photoreceptor_%20_disc_%20_membrane_%20_(GO:0097381)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|GTPase_%20_activity_%20_(GO:0003924)_%7C_GTPase_%20_binding_%20_(GO:0051020)_%7C_protein_%20_complex_%20_binding_%20_(GO:0032403)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1810090 rs7525092 C T . PASS FUNCOTATION=[GNB1|hg19|chr1|1810090|1810090|INTRON||SNP|C|C|T|g.chr1:1810090C>T|ENST00000378609.4|-|||c.e1-12169G>A|||0.5037406483790524|CTCACCAAGGCAAGTTGGCAT|GNB1_ENST00000472614.2_INTRON|||||||||||||||||||||||||269|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(86)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X04526|NM_002074.3|NP_002065.1|HGNC:4396|G_%20_protein_%20_subunit_%20_beta_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"guanine_%20_nucleotide_%20_binding_%20_protein_%20_(G_%20_protein)_%2C__%20_beta_%20_polypeptide_%20_1"||"transducin_%20_beta_%20_chain_%20_1"_%2C__%20_"guanine_%20_nucleotide-binding_%20_protein_%20_G(I)/G(S)/G(T)_%20_subunit_%20_beta-1"|1p36.33|2017-04-12||2016-03-03|BC004186||2782|ENSG00000078369||NM_002074|1430_%7C_362|G_%20_protein_%20_subunits_%20_beta_%7C_WD_%20_repeat_%20_domain_%20_containing|CCDS34_%2C__%20_CCDS72685|OTTHUMG00000000940|2782|139380|NM_001282538|P62873|ENSG00000078369|uc031tmu.1|GBB1_HUMAN||B1AJZ7_%7C_P04697_%7C_P04901_%7C_Q1RMY8|P62873|adenylate_%20_cyclase-activating_%20_dopamine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007191)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cellular_%20_response_%20_to_%20_catecholamine_%20_stimulus_%20_(GO:0071870)_%7C_cellular_%20_response_%20_to_%20_glucagon_%20_stimulus_%20_(GO:0071377)_%7C_cellular_%20_response_%20_to_%20_prostaglandin_%20_E_%20_stimulus_%20_(GO:0071380)_%7C_energy_%20_reserve_%20_metabolic_%20_process_%20_(GO:0006112)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_GTP_%20_catabolic_%20_process_%20_(GO:0006184)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_Ras_%20_protein_%20_signal_%20_transduction_%20_(GO:0007265)_%7C_regulation_%20_of_%20_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0022400)_%7C_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0016056)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_heterotrimeric_%20_G-protein_%20_complex_%20_(GO:0005834)_%7C_intracellular_%20_(GO:0005622)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_membrane_%20_(GO:0016020)_%7C_photoreceptor_%20_disc_%20_membrane_%20_(GO:0097381)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|GTPase_%20_activity_%20_(GO:0003924)_%7C_GTPase_%20_binding_%20_(GO:0051020)_%7C_protein_%20_complex_%20_binding_%20_(GO:0032403)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1812521 rs6603802 C T . PASS FUNCOTATION=[GNB1|hg19|chr1|1812521|1812521|INTRON||SNP|C|C|T|g.chr1:1812521C>T|ENST00000378609.4|-|||c.e1-9738G>A|||0.5037406483790524|TAAGGCCTGCCGTACCCTCGA|GNB1_ENST00000472614.2_INTRON|||||||||||||||||||||||||269|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(86)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X04526|NM_002074.3|NP_002065.1|HGNC:4396|G_%20_protein_%20_subunit_%20_beta_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"guanine_%20_nucleotide_%20_binding_%20_protein_%20_(G_%20_protein)_%2C__%20_beta_%20_polypeptide_%20_1"||"transducin_%20_beta_%20_chain_%20_1"_%2C__%20_"guanine_%20_nucleotide-binding_%20_protein_%20_G(I)/G(S)/G(T)_%20_subunit_%20_beta-1"|1p36.33|2017-04-12||2016-03-03|BC004186||2782|ENSG00000078369||NM_002074|1430_%7C_362|G_%20_protein_%20_subunits_%20_beta_%7C_WD_%20_repeat_%20_domain_%20_containing|CCDS34_%2C__%20_CCDS72685|OTTHUMG00000000940|2782|139380|NM_001282538|P62873|ENSG00000078369|uc031tmu.1|GBB1_HUMAN||B1AJZ7_%7C_P04697_%7C_P04901_%7C_Q1RMY8|P62873|adenylate_%20_cyclase-activating_%20_dopamine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007191)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cellular_%20_response_%20_to_%20_catecholamine_%20_stimulus_%20_(GO:0071870)_%7C_cellular_%20_response_%20_to_%20_glucagon_%20_stimulus_%20_(GO:0071377)_%7C_cellular_%20_response_%20_to_%20_prostaglandin_%20_E_%20_stimulus_%20_(GO:0071380)_%7C_energy_%20_reserve_%20_metabolic_%20_process_%20_(GO:0006112)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_GTP_%20_catabolic_%20_process_%20_(GO:0006184)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_Ras_%20_protein_%20_signal_%20_transduction_%20_(GO:0007265)_%7C_regulation_%20_of_%20_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0022400)_%7C_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0016056)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_heterotrimeric_%20_G-protein_%20_complex_%20_(GO:0005834)_%7C_intracellular_%20_(GO:0005622)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_membrane_%20_(GO:0016020)_%7C_photoreceptor_%20_disc_%20_membrane_%20_(GO:0097381)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|GTPase_%20_activity_%20_(GO:0003924)_%7C_GTPase_%20_binding_%20_(GO:0051020)_%7C_protein_%20_complex_%20_binding_%20_(GO:0032403)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1818129 rs16824526 A C . PASS FUNCOTATION=[GNB1|hg19|chr1|1818129|1818129|INTRON||SNP|A|A|C|g.chr1:1818129A>C|ENST00000378609.4|-|||c.e1-4130T>G|||0.4239401496259352|ATCAGAATGTAAACCAGTTTA|GNB1_ENST00000472614.2_INTRON/RP1-140A9.1_ENST00000412228.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||269|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(86)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X04526|NM_002074.3|NP_002065.1|HGNC:4396|G_%20_protein_%20_subunit_%20_beta_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"guanine_%20_nucleotide_%20_binding_%20_protein_%20_(G_%20_protein)_%2C__%20_beta_%20_polypeptide_%20_1"||"transducin_%20_beta_%20_chain_%20_1"_%2C__%20_"guanine_%20_nucleotide-binding_%20_protein_%20_G(I)/G(S)/G(T)_%20_subunit_%20_beta-1"|1p36.33|2017-04-12||2016-03-03|BC004186||2782|ENSG00000078369||NM_002074|1430_%7C_362|G_%20_protein_%20_subunits_%20_beta_%7C_WD_%20_repeat_%20_domain_%20_containing|CCDS34_%2C__%20_CCDS72685|OTTHUMG00000000940|2782|139380|NM_001282538|P62873|ENSG00000078369|uc031tmu.1|GBB1_HUMAN||B1AJZ7_%7C_P04697_%7C_P04901_%7C_Q1RMY8|P62873|adenylate_%20_cyclase-activating_%20_dopamine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007191)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cellular_%20_response_%20_to_%20_catecholamine_%20_stimulus_%20_(GO:0071870)_%7C_cellular_%20_response_%20_to_%20_glucagon_%20_stimulus_%20_(GO:0071377)_%7C_cellular_%20_response_%20_to_%20_prostaglandin_%20_E_%20_stimulus_%20_(GO:0071380)_%7C_energy_%20_reserve_%20_metabolic_%20_process_%20_(GO:0006112)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_GTP_%20_catabolic_%20_process_%20_(GO:0006184)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_Ras_%20_protein_%20_signal_%20_transduction_%20_(GO:0007265)_%7C_regulation_%20_of_%20_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0022400)_%7C_rhodopsin_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0016056)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_heterotrimeric_%20_G-protein_%20_complex_%20_(GO:0005834)_%7C_intracellular_%20_(GO:0005622)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_membrane_%20_(GO:0016020)_%7C_photoreceptor_%20_disc_%20_membrane_%20_(GO:0097381)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|GTPase_%20_activity_%20_(GO:0003924)_%7C_GTPase_%20_binding_%20_(GO:0051020)_%7C_protein_%20_complex_%20_binding_%20_(GO:0032403)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1846765 rs2247560 G A . PASS FUNCOTATION=[CALML6|hg19|chr1|1846765|1846765|INTRON||SNP|G|G|A|g.chr1:1846765G>A|ENST00000307786.3|+|||c.e1+19G>A|||0.5985037406483791|TGACAGCATGGGACCAGGGTC|CALML6_ENST00000462293.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||178|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY566229|NM_138705.2|NP_619650.2|HGNC:24193|calmodulin_%20_like_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"calmodulin-like_%20_6"|CAGLP||1p36.33|2015-11-23||2015-11-23|AF490905||163688|ENSG00000169885||NM_138705|863|EF-hand_%20_domain_%20_containing|CCDS30566_%2C__%20_CCDS81255|OTTHUMG00000000943|163688|610171|NM_138705|Q8TD86|ENSG00000169885|uc001aih.1|CALL6_HUMAN||A2A2M3_%7C_Q6Q2C4|Q8TD86||cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1847531 rs28710181 C T . PASS FUNCOTATION=[CALML6|hg19|chr1|1847531|1847531|INTRON||SNP|C|C|T|g.chr1:1847531C>T|ENST00000307786.3|+|||c.e3-349C>T|||0.6733167082294265|CTCCTCCCCACCCTGCTCTCG|CALML6_ENST00000462293.1_INTRON|||||||||||||||||||||||||178|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY566229|NM_138705.2|NP_619650.2|HGNC:24193|calmodulin_%20_like_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"calmodulin-like_%20_6"|CAGLP||1p36.33|2015-11-23||2015-11-23|AF490905||163688|ENSG00000169885||NM_138705|863|EF-hand_%20_domain_%20_containing|CCDS30566_%2C__%20_CCDS81255|OTTHUMG00000000943|163688|610171|NM_138705|Q8TD86|ENSG00000169885|uc001aih.1|CALL6_HUMAN||A2A2M3_%7C_Q6Q2C4|Q8TD86||cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1852484 rs28508199 A G . PASS FUNCOTATION=[TMEM52|hg19|chr1|1852484|1852484|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:1852484A>G|ENST00000310991.3|-||||||0.6408977556109726|CCCATTGGACAGAAATCCTGC|TMEM52_ENST00000378602.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AY358544|NM_178545.3|NP_848640.1|HGNC:27916|transmembrane_%20_protein_%20_52|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.33|2014-11-19|||AJ278736||339456|ENSG00000178821||NM_178545|||CCDS35|OTTHUMG00000000944|339456||NM_178545|Q8NDY8|ENSG00000178821|uc001aij.3|TMM52_HUMAN||Q4VXS6_%7C_Q6UX25|Q8NDY8||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1854321 rs2250833 A G . PASS FUNCOTATION=[TMEM52|hg19|chr1|1854321|1854321|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:1854321A>G|ENST00000310991.3|-||||||0.655860349127182|CCCGGCTGTCAGGACAAGCCC|TMEM52_ENST00000378602.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AY358544|NM_178545.3|NP_848640.1|HGNC:27916|transmembrane_%20_protein_%20_52|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.33|2014-11-19|||AJ278736||339456|ENSG00000178821||NM_178545|||CCDS35|OTTHUMG00000000944|339456||NM_178545|Q8NDY8|ENSG00000178821|uc001aij.3|TMM52_HUMAN||Q4VXS6_%7C_Q6UX25|Q8NDY8||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1855655 psy_rs183037218 G T . PASS FUNCOTATION=[TMEM52|hg19|chr1|1855655|1855655|FIVE_PRIME_FLANK||SNP|G|G|T|g.chr1:1855655G>T|ENST00000310991.3|-||||||0.7306733167082294|GTGCCCGCCAGCTCACCGACC||||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AY358544|NM_178545.3|NP_848640.1|HGNC:27916|transmembrane_%20_protein_%20_52|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.33|2014-11-19|||AJ278736||339456|ENSG00000178821||NM_178545|||CCDS35|OTTHUMG00000000944|339456||NM_178545|Q8NDY8|ENSG00000178821|uc001aij.3|TMM52_HUMAN||Q4VXS6_%7C_Q6UX25|Q8NDY8||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1865298 rs2803316 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|1865298|1865298|IGR||SNP|A|A|G|g.chr1:1865298A>G|no_transcript|||||||0.39900249376558605|TAATTCTTGAAAAGGAAGCTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1886519 psy_rs2748975 C A . PASS FUNCOTATION=[Unknown|hg19|chr1|1886519|1886519|IGR||SNP|C|C|A|g.chr1:1886519C>A|no_transcript|||||||0.6259351620947631|ACCGGAAGTGCGGCTCACACA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1887019 exm4806 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|1887019|1887019|IGR||SNP|A|A|G|g.chr1:1887019A>G|no_transcript|||||||0.6084788029925187|TCGAAGGCCTAGGAAAATTCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1887049 exm4808 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1887049|1887049|IGR||SNP|T|T|C|g.chr1:1887049T>C|no_transcript|||||||0.600997506234414|AGCCCTCCCCTGGGCCCCTCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1887055 exm4809 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1887055|1887055|IGR||SNP|C|C|T|g.chr1:1887055C>T|no_transcript|||||||0.5910224438902744|CCCCTGGGCCCCTCAGCCCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1887195 exm4847 G T . PASS FUNCOTATION=[Unknown|hg19|chr1|1887195|1887195|IGR||SNP|G|G|T|g.chr1:1887195G>T|no_transcript|||||||0.6109725685785536|CTGCATGTCCGCCTGGGAGGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1888057 exm4861 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|1888057|1888057|IGR||SNP|A|A|G|g.chr1:1888057A>G|no_transcript|||||||0.5860349127182045|TGGCACACTCACTAATTTCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1888115 exm4863 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|1888115|1888115|IGR||SNP|A|A|G|g.chr1:1888115A>G|no_transcript|||||||0.6109725685785536|GCTGGCAGGAACTTGAAAGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1888168 exm4869 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1888168|1888168|IGR||SNP|G|G|A|g.chr1:1888168G>A|no_transcript|||||||0.600997506234414|GGTCCGAGACGTGGTCTCTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1888193 exm4871 C A . PASS FUNCOTATION=[Unknown|hg19|chr1|1888193|1888193|IGR||SNP|C|C|A|g.chr1:1888193C>A|no_transcript|||||||0.5960099750623441|ACGTAGCTGCCGAAGTCAATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1888193 rs3820011 C A . PASS FUNCOTATION=[Unknown|hg19|chr1|1888193|1888193|IGR||SNP|C|C|A|g.chr1:1888193C>A|no_transcript|||||||0.5960099750623441|ACGTAGCTGCCGAAGTCAATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1890559 exm4882 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1890559|1890559|IGR||SNP|C|C|T|g.chr1:1890559C>T|no_transcript|||||||0.5311720698254364|TTGAACTCACCGAACATTTCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1890609 variant.277 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1890609|1890609|IGR||SNP|G|G|A|g.chr1:1890609G>A|no_transcript|||||||0.5361596009975063|TCGCCCGTCTGAGCCAAAAAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1891441 exm4889 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1891441|1891441|IGR||SNP|C|C|T|g.chr1:1891441C>T|no_transcript|||||||0.6259351620947631|CAGGACATTCCGGCTGACAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1892325 psy_rs2803291 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1892325|1892325|IGR||SNP|T|T|C|g.chr1:1892325T>C|no_transcript|||||||0.5037406483790524|ACCCTTCAGATGACAGAAGCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1895269 exm4907 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1895269|1895269|IGR||SNP|G|G|A|g.chr1:1895269G>A|no_transcript|||||||0.5536159600997507|GTTTACCAACGTGATCTTTTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1896346 exm4914 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1896346|1896346|IGR||SNP|G|G|A|g.chr1:1896346G>A|no_transcript|||||||0.6309226932668329|GAGGAGCTCCGGTTTGCTGTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1896379 exm4915 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1896379|1896379|IGR||SNP|C|C|T|g.chr1:1896379C>T|no_transcript|||||||0.6483790523690773|TTGGAACTCACGCCCCCACAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1896433 exm4922 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1896433|1896433|IGR||SNP|C|C|T|g.chr1:1896433C>T|no_transcript|||||||0.6733167082294265|CTCCACCGTGCGCTCCAGGAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1896466 exm4926 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1896466|1896466|IGR||SNP|C|C|T|g.chr1:1896466C>T|no_transcript|||||||0.683291770573566|CTTTGTCCCGCCCACGGGCTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1896494 exm4928 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1896494|1896494|IGR||SNP|T|T|C|g.chr1:1896494T>C|no_transcript|||||||0.6783042394014963|ACGTCCTCCTTGGGCACCTGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1897822 exm4931 G T . PASS FUNCOTATION=[Unknown|hg19|chr1|1897822|1897822|IGR||SNP|G|G|T|g.chr1:1897822G>T|no_transcript|||||||0.628428927680798|GGTATGGCTTGTAGTCTTCAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1897832 exm4932 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1897832|1897832|IGR||SNP|T|T|C|g.chr1:1897832T>C|no_transcript|||||||0.6309226932668329|GTAGTCTTCATTCCAAAGCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1897889 exm4936 G C . PASS FUNCOTATION=[Unknown|hg19|chr1|1897889|1897889|IGR||SNP|G|G|C|g.chr1:1897889G>C|no_transcript|||||||0.6309226932668329|GCTGGCCCCGGGGTCCCCCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1900102 exm4945 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1900102|1900102|IGR||SNP|G|G|A|g.chr1:1900102G>A|no_transcript|||||||0.5760598503740648|TGGGACTGTGGTCTTCTTGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1900156 exm4948 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1900156|1900156|IGR||SNP|C|C|T|g.chr1:1900156C>T|no_transcript|||||||0.5835411471321695|CAGGGTCAGCCGGTGCCTGGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1900186 exm4951 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1900186|1900186|IGR||SNP|T|T|C|g.chr1:1900186T>C|no_transcript|||||||0.5935162094763092|GGGATGCTGTTTCTTCCTCTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1900211 exm4955 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1900211|1900211|IGR||SNP|C|C|T|g.chr1:1900211C>T|no_transcript|||||||0.600997506234414|TCCTCAGCCTCCTCTTTCAGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1900232 exm4957 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1900232|1900232|IGR||SNP|T|T|C|g.chr1:1900232T>C|no_transcript|||||||0.600997506234414|ATCCGACTGATGATCTCCTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1900232 rs16824588 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1900232|1900232|IGR||SNP|T|T|C|g.chr1:1900232T>C|no_transcript|||||||0.600997506234414|ATCCGACTGATGATCTCCTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1902129 exm4965 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1902129|1902129|IGR||SNP|G|G|A|g.chr1:1902129G>A|no_transcript|||||||0.6458852867830424|TGGCGCCGGCGCTGGTGGACA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1902133 exm4966 G C . PASS FUNCOTATION=[Unknown|hg19|chr1|1902133|1902133|IGR||SNP|G|G|C|g.chr1:1902133G>C|no_transcript|||||||0.6458852867830424|GCCGGCGCTGGTGGACAAGGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1902206 exm4973 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1902206|1902206|IGR||SNP|G|G|A|g.chr1:1902206G>A|no_transcript|||||||0.6109725685785536|CCTCTGCTCCGCCAGCTCTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1902225 exm4974 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1902225|1902225|IGR||SNP|G|G|A|g.chr1:1902225G>A|no_transcript|||||||0.6159600997506235|GCCTTGGCACGGTCCCATGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1902246 exm4977 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1902246|1902246|IGR||SNP|G|G|A|g.chr1:1902246G>A|no_transcript|||||||0.6109725685785536|TGGAACTTCCGCAGTGTGTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1903426 exm4981 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1903426|1903426|IGR||SNP|G|G|A|g.chr1:1903426G>A|no_transcript|||||||0.6483790523690773|TACCCGGTTCGCGGAGATGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1903469 exm4984 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1903469|1903469|IGR||SNP|G|G|A|g.chr1:1903469G>A|no_transcript|||||||0.6408977556109726|TCCATGCGTCGCCTCATGTAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1904401 exm4988 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1904401|1904401|IGR||SNP|G|G|A|g.chr1:1904401G>A|no_transcript|||||||0.5935162094763092|TTCAGGAACCGCACGGCAACC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1904413 exm4989 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1904413|1904413|IGR||SNP|T|T|C|g.chr1:1904413T>C|no_transcript|||||||0.5935162094763092|ACGGCAACCTTGTGGTTCTTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1904424 exm4990 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1904424|1904424|IGR||SNP|C|C|T|g.chr1:1904424C>T|no_transcript|||||||0.5910224438902744|GTGGTTCTTCCGGGCGTCCTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1905467 exm4998 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|1905467|1905467|IGR||SNP|A|A|G|g.chr1:1905467A>G|no_transcript|||||||0.6583541147132169|CGCCTACCTGATCCTCAGCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1905526 exm5005 C A . PASS FUNCOTATION=[Unknown|hg19|chr1|1905526|1905526|IGR||SNP|C|C|A|g.chr1:1905526C>A|no_transcript|||||||0.6508728179551122|TGCAGAGCTGCTCGGCTGCGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1905557 exm5009 G C . PASS FUNCOTATION=[Unknown|hg19|chr1|1905557|1905557|IGR||SNP|G|G|C|g.chr1:1905557G>C|no_transcript|||||||0.6384039900249376|CCGCCGCCCCGTGGCCTCCAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1916587 rs3795283 G T . PASS FUNCOTATION=[Unknown|hg19|chr1|1916587|1916587|IGR||SNP|G|G|T|g.chr1:1916587G>T|no_transcript|||||||0.5336658354114713|CGAGGAAAGAGGAAAAAGAAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1916904 exm5043 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1916904|1916904|IGR||SNP|C|C|T|g.chr1:1916904C>T|no_transcript|||||||0.6583541147132169|CGTCTGGACACGGCCTGGAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1918445 exm5049 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1918445|1918445|IGR||SNP|C|C|T|g.chr1:1918445C>T|no_transcript|||||||0.6309226932668329|GATCAGGTCCCGCCTCTGCCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1918475 exm5052 C G . PASS FUNCOTATION=[Unknown|hg19|chr1|1918475|1918475|IGR||SNP|C|C|G|g.chr1:1918475C>G|no_transcript|||||||0.6234413965087282|CAGCTCCCCTCTGGAACAGGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1930754 rs6605081 C T . PASS FUNCOTATION=[C1orf222|hg19|chr1|1930754|1930754|INTRON||SNP|C|C|T|g.chr1:1930754C>T|ENST00000434971.2|-|||c.e1-4386G>A|||0.4688279301745636|ACGGAATGGACATCTTTGTCG||||||||||||||||||||||||||22|central_nervous_system(22)|||||||AL391845||||||||||||||||||||||||||||||||CA222_HUMAN|||Q69YW0|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1941929 rs6656398 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1941929|1941929|IGR||SNP|G|G|A|g.chr1:1941929G>A|no_transcript|||||||0.516209476309227|AGTTTCAGACGGTCAAACAGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1946591 rs13303016 G A . PASS FUNCOTATION=[GABRD|hg19|chr1|1946591|1946591|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:1946591G>A|ENST00000378585.4|+||||||0.5361596009975063|AGCGAGCGCCGTTTCCTCTCC|RP11-547D24.1_ENST00000443930.1_RNA|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC033801|NM_000815.4|NP_000806.2|HGNC:4084|gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"gamma-aminobutyric_%20_acid_%20_(GABA)_%20_A_%20_receptor_%2C__%20_delta"||"GABA(A)_%20_receptor_%2C__%20_delta"|1p36.33|2016-10-05||2016-02-04|BC033801||2563|ENSG00000187730|2176788_%2C__%20_10965146|NM_000815|563|Gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_subunits|CCDS36|OTTHUMG00000041064|2563|137163|NM_000815|O14764|ENSG00000187730|uc001aip.3|GBRD_HUMAN|Acamprosate(DB00659)_%7C_Adinazolam(DB00546)_%7C_Alprazolam(DB00404)_%7C_Amoxapine(DB00543)_%7C_Bromazepam(DB01558)_%7C_Butabarbital(DB00237)_%7C_Butalbital(DB00241)_%7C_Chlordiazepoxide(DB00475)_%7C_Cinolazepam(DB01594)_%7C_Clobazam(DB00349)_%7C_Clonazepam(DB01068)_%7C_Clorazepate(DB00628)_%7C_Clotiazepam(DB01559)_%7C_Desflurane(DB01189)_%7C_Diazepam(DB00829)_%7C_Enflurane(DB00228)_%7C_Ergoloid_%20_mesylate(DB01049)_%7C_Estazolam(DB01215)_%7C_Eszopiclone(DB00402)_%7C_Ethchlorvynol(DB00189)_%7C_Etomidate(DB00292)_%7C_Fludiazepam(DB01567)_%7C_Flumazenil(DB01205)_%7C_Flurazepam(DB00690)_%7C_Glutethimide(DB01437)_%7C_Halazepam(DB00801)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Ketazolam(DB01587)_%7C_Lorazepam(DB00186)_%7C_Meprobamate(DB00371)_%7C_Methoxyflurane(DB01028)_%7C_Methyprylon(DB01107)_%7C_Midazolam(DB00683)_%7C_Nitrazepam(DB01595)_%7C_Olanzapine(DB00334)_%7C_Oxazepam(DB00842)_%7C_Pentobarbital(DB00312)_%7C_Prazepam(DB01588)_%7C_Primidone(DB00794)_%7C_Propofol(DB00818)_%7C_Quazepam(DB01589)_%7C_Sevoflurane(DB01236)_%7C_Talbutal(DB00306)_%7C_Temazepam(DB00231)_%7C_Topiramate(DB00273)_%7C_Triazolam(DB00897)|Q8N4N9|O14764|signal_%20_transduction_%20_(GO:0007165)_%7C_synaptic_%20_transmission_%20_(GO:0007268)_%7C_transport_%20_(GO:0006810)|cell_%20_junction_%20_(GO:0030054)_%7C_chloride_%20_channel_%20_complex_%20_(GO:0034707)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|chloride_%20_channel_%20_activity_%20_(GO:0005254)_%7C_extracellular_%20_ligand-gated_%20_ion_%20_channel_%20_activity_%20_(GO:0005230)_%7C_GABA-A_%20_receptor_%20_activity_%20_(GO:0004890)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1956414 exm2250439 C T . PASS FUNCOTATION=[GABRD|hg19|chr1|1956414|1956414|SILENT||SNP|C|C|T|g.chr1:1956414C>T|ENST00000378585.4|+|2|185|c.102C>T|c.(100-102)tcC>tcT|p.S34S|0.6658354114713217|ACGTGGGCTCCAACCTGGAGA||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC033801|NM_000815.4|NP_000806.2|HGNC:4084|gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"gamma-aminobutyric_%20_acid_%20_(GABA)_%20_A_%20_receptor_%2C__%20_delta"||"GABA(A)_%20_receptor_%2C__%20_delta"|1p36.33|2016-10-05||2016-02-04|BC033801||2563|ENSG00000187730|2176788_%2C__%20_10965146|NM_000815|563|Gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_subunits|CCDS36|OTTHUMG00000041064|2563|137163|NM_000815|O14764|ENSG00000187730|uc001aip.3|GBRD_HUMAN|Acamprosate(DB00659)_%7C_Adinazolam(DB00546)_%7C_Alprazolam(DB00404)_%7C_Amoxapine(DB00543)_%7C_Bromazepam(DB01558)_%7C_Butabarbital(DB00237)_%7C_Butalbital(DB00241)_%7C_Chlordiazepoxide(DB00475)_%7C_Cinolazepam(DB01594)_%7C_Clobazam(DB00349)_%7C_Clonazepam(DB01068)_%7C_Clorazepate(DB00628)_%7C_Clotiazepam(DB01559)_%7C_Desflurane(DB01189)_%7C_Diazepam(DB00829)_%7C_Enflurane(DB00228)_%7C_Ergoloid_%20_mesylate(DB01049)_%7C_Estazolam(DB01215)_%7C_Eszopiclone(DB00402)_%7C_Ethchlorvynol(DB00189)_%7C_Etomidate(DB00292)_%7C_Fludiazepam(DB01567)_%7C_Flumazenil(DB01205)_%7C_Flurazepam(DB00690)_%7C_Glutethimide(DB01437)_%7C_Halazepam(DB00801)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Ketazolam(DB01587)_%7C_Lorazepam(DB00186)_%7C_Meprobamate(DB00371)_%7C_Methoxyflurane(DB01028)_%7C_Methyprylon(DB01107)_%7C_Midazolam(DB00683)_%7C_Nitrazepam(DB01595)_%7C_Olanzapine(DB00334)_%7C_Oxazepam(DB00842)_%7C_Pentobarbital(DB00312)_%7C_Prazepam(DB01588)_%7C_Primidone(DB00794)_%7C_Propofol(DB00818)_%7C_Quazepam(DB01589)_%7C_Sevoflurane(DB01236)_%7C_Talbutal(DB00306)_%7C_Temazepam(DB00231)_%7C_Topiramate(DB00273)_%7C_Triazolam(DB00897)|Q8N4N9|O14764|signal_%20_transduction_%20_(GO:0007165)_%7C_synaptic_%20_transmission_%20_(GO:0007268)_%7C_transport_%20_(GO:0006810)|cell_%20_junction_%20_(GO:0030054)_%7C_chloride_%20_channel_%20_complex_%20_(GO:0034707)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|chloride_%20_channel_%20_activity_%20_(GO:0005254)_%7C_extracellular_%20_ligand-gated_%20_ion_%20_channel_%20_activity_%20_(GO:0005230)_%7C_GABA-A_%20_receptor_%20_activity_%20_(GO:0004890)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1959595 exm1744492 C T . PASS FUNCOTATION=[GABRD|hg19|chr1|1959595|1959595|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1959595C>T|ENST00000378585.4|+|6|638|c.555C>T|c.(553-555)taC>taT|p.Y185Y|0.6733167082294265|TTCCTCCAGACGGTTACTCAT||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC033801|NM_000815.4|NP_000806.2|HGNC:4084|gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"gamma-aminobutyric_%20_acid_%20_(GABA)_%20_A_%20_receptor_%2C__%20_delta"||"GABA(A)_%20_receptor_%2C__%20_delta"|1p36.33|2016-10-05||2016-02-04|BC033801||2563|ENSG00000187730|2176788_%2C__%20_10965146|NM_000815|563|Gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_subunits|CCDS36|OTTHUMG00000041064|2563|137163|NM_000815|O14764|ENSG00000187730|uc001aip.3|GBRD_HUMAN|Acamprosate(DB00659)_%7C_Adinazolam(DB00546)_%7C_Alprazolam(DB00404)_%7C_Amoxapine(DB00543)_%7C_Bromazepam(DB01558)_%7C_Butabarbital(DB00237)_%7C_Butalbital(DB00241)_%7C_Chlordiazepoxide(DB00475)_%7C_Cinolazepam(DB01594)_%7C_Clobazam(DB00349)_%7C_Clonazepam(DB01068)_%7C_Clorazepate(DB00628)_%7C_Clotiazepam(DB01559)_%7C_Desflurane(DB01189)_%7C_Diazepam(DB00829)_%7C_Enflurane(DB00228)_%7C_Ergoloid_%20_mesylate(DB01049)_%7C_Estazolam(DB01215)_%7C_Eszopiclone(DB00402)_%7C_Ethchlorvynol(DB00189)_%7C_Etomidate(DB00292)_%7C_Fludiazepam(DB01567)_%7C_Flumazenil(DB01205)_%7C_Flurazepam(DB00690)_%7C_Glutethimide(DB01437)_%7C_Halazepam(DB00801)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Ketazolam(DB01587)_%7C_Lorazepam(DB00186)_%7C_Meprobamate(DB00371)_%7C_Methoxyflurane(DB01028)_%7C_Methyprylon(DB01107)_%7C_Midazolam(DB00683)_%7C_Nitrazepam(DB01595)_%7C_Olanzapine(DB00334)_%7C_Oxazepam(DB00842)_%7C_Pentobarbital(DB00312)_%7C_Prazepam(DB01588)_%7C_Primidone(DB00794)_%7C_Propofol(DB00818)_%7C_Quazepam(DB01589)_%7C_Sevoflurane(DB01236)_%7C_Talbutal(DB00306)_%7C_Temazepam(DB00231)_%7C_Topiramate(DB00273)_%7C_Triazolam(DB00897)|Q8N4N9|O14764|signal_%20_transduction_%20_(GO:0007165)_%7C_synaptic_%20_transmission_%20_(GO:0007268)_%7C_transport_%20_(GO:0006810)|cell_%20_junction_%20_(GO:0030054)_%7C_chloride_%20_channel_%20_complex_%20_(GO:0034707)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|chloride_%20_channel_%20_activity_%20_(GO:0005254)_%7C_extracellular_%20_ligand-gated_%20_ion_%20_channel_%20_activity_%20_(GO:0005230)_%7C_GABA-A_%20_receptor_%20_activity_%20_(GO:0004890)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1959595 exm1744492 C T . PASS FUNCOTATION=[GABRD|hg19|chr1|1959595|1959595|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1959595C>T|ENST00000378585.4|+|6|638|c.555C>T|c.(553-555)taC>taT|p.Y185Y|0.6733167082294265|TTCCTCCAGACGGTTACTCAT||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC033801|NM_000815.4|NP_000806.2|HGNC:4084|gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"gamma-aminobutyric_%20_acid_%20_(GABA)_%20_A_%20_receptor_%2C__%20_delta"||"GABA(A)_%20_receptor_%2C__%20_delta"|1p36.33|2016-10-05||2016-02-04|BC033801||2563|ENSG00000187730|2176788_%2C__%20_10965146|NM_000815|563|Gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_subunits|CCDS36|OTTHUMG00000041064|2563|137163|NM_000815|O14764|ENSG00000187730|uc001aip.3|GBRD_HUMAN|Acamprosate(DB00659)_%7C_Adinazolam(DB00546)_%7C_Alprazolam(DB00404)_%7C_Amoxapine(DB00543)_%7C_Bromazepam(DB01558)_%7C_Butabarbital(DB00237)_%7C_Butalbital(DB00241)_%7C_Chlordiazepoxide(DB00475)_%7C_Cinolazepam(DB01594)_%7C_Clobazam(DB00349)_%7C_Clonazepam(DB01068)_%7C_Clorazepate(DB00628)_%7C_Clotiazepam(DB01559)_%7C_Desflurane(DB01189)_%7C_Diazepam(DB00829)_%7C_Enflurane(DB00228)_%7C_Ergoloid_%20_mesylate(DB01049)_%7C_Estazolam(DB01215)_%7C_Eszopiclone(DB00402)_%7C_Ethchlorvynol(DB00189)_%7C_Etomidate(DB00292)_%7C_Fludiazepam(DB01567)_%7C_Flumazenil(DB01205)_%7C_Flurazepam(DB00690)_%7C_Glutethimide(DB01437)_%7C_Halazepam(DB00801)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Ketazolam(DB01587)_%7C_Lorazepam(DB00186)_%7C_Meprobamate(DB00371)_%7C_Methoxyflurane(DB01028)_%7C_Methyprylon(DB01107)_%7C_Midazolam(DB00683)_%7C_Nitrazepam(DB01595)_%7C_Olanzapine(DB00334)_%7C_Oxazepam(DB00842)_%7C_Pentobarbital(DB00312)_%7C_Prazepam(DB01588)_%7C_Primidone(DB00794)_%7C_Propofol(DB00818)_%7C_Quazepam(DB01589)_%7C_Sevoflurane(DB01236)_%7C_Talbutal(DB00306)_%7C_Temazepam(DB00231)_%7C_Topiramate(DB00273)_%7C_Triazolam(DB00897)|Q8N4N9|O14764|signal_%20_transduction_%20_(GO:0007165)_%7C_synaptic_%20_transmission_%20_(GO:0007268)_%7C_transport_%20_(GO:0006810)|cell_%20_junction_%20_(GO:0030054)_%7C_chloride_%20_channel_%20_complex_%20_(GO:0034707)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|chloride_%20_channel_%20_activity_%20_(GO:0005254)_%7C_extracellular_%20_ligand-gated_%20_ion_%20_channel_%20_activity_%20_(GO:0005230)_%7C_GABA-A_%20_receptor_%20_activity_%20_(GO:0004890)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1959730 exm1744497 C T . PASS FUNCOTATION=[GABRD|hg19|chr1|1959730|1959730|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1959730C>T|ENST00000378585.4|+|6|773|c.690C>T|c.(688-690)tcC>tcT|p.S230S|0.6633416458852868|ACTTCAAGTCCGGTAACATAT||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC033801|NM_000815.4|NP_000806.2|HGNC:4084|gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"gamma-aminobutyric_%20_acid_%20_(GABA)_%20_A_%20_receptor_%2C__%20_delta"||"GABA(A)_%20_receptor_%2C__%20_delta"|1p36.33|2016-10-05||2016-02-04|BC033801||2563|ENSG00000187730|2176788_%2C__%20_10965146|NM_000815|563|Gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_subunits|CCDS36|OTTHUMG00000041064|2563|137163|NM_000815|O14764|ENSG00000187730|uc001aip.3|GBRD_HUMAN|Acamprosate(DB00659)_%7C_Adinazolam(DB00546)_%7C_Alprazolam(DB00404)_%7C_Amoxapine(DB00543)_%7C_Bromazepam(DB01558)_%7C_Butabarbital(DB00237)_%7C_Butalbital(DB00241)_%7C_Chlordiazepoxide(DB00475)_%7C_Cinolazepam(DB01594)_%7C_Clobazam(DB00349)_%7C_Clonazepam(DB01068)_%7C_Clorazepate(DB00628)_%7C_Clotiazepam(DB01559)_%7C_Desflurane(DB01189)_%7C_Diazepam(DB00829)_%7C_Enflurane(DB00228)_%7C_Ergoloid_%20_mesylate(DB01049)_%7C_Estazolam(DB01215)_%7C_Eszopiclone(DB00402)_%7C_Ethchlorvynol(DB00189)_%7C_Etomidate(DB00292)_%7C_Fludiazepam(DB01567)_%7C_Flumazenil(DB01205)_%7C_Flurazepam(DB00690)_%7C_Glutethimide(DB01437)_%7C_Halazepam(DB00801)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Ketazolam(DB01587)_%7C_Lorazepam(DB00186)_%7C_Meprobamate(DB00371)_%7C_Methoxyflurane(DB01028)_%7C_Methyprylon(DB01107)_%7C_Midazolam(DB00683)_%7C_Nitrazepam(DB01595)_%7C_Olanzapine(DB00334)_%7C_Oxazepam(DB00842)_%7C_Pentobarbital(DB00312)_%7C_Prazepam(DB01588)_%7C_Primidone(DB00794)_%7C_Propofol(DB00818)_%7C_Quazepam(DB01589)_%7C_Sevoflurane(DB01236)_%7C_Talbutal(DB00306)_%7C_Temazepam(DB00231)_%7C_Topiramate(DB00273)_%7C_Triazolam(DB00897)|Q8N4N9|O14764|signal_%20_transduction_%20_(GO:0007165)_%7C_synaptic_%20_transmission_%20_(GO:0007268)_%7C_transport_%20_(GO:0006810)|cell_%20_junction_%20_(GO:0030054)_%7C_chloride_%20_channel_%20_complex_%20_(GO:0034707)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|chloride_%20_channel_%20_activity_%20_(GO:0005254)_%7C_extracellular_%20_ligand-gated_%20_ion_%20_channel_%20_activity_%20_(GO:0005230)_%7C_GABA-A_%20_receptor_%20_activity_%20_(GO:0004890)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1959730 exm1744497 C T . PASS FUNCOTATION=[GABRD|hg19|chr1|1959730|1959730|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1959730C>T|ENST00000378585.4|+|6|773|c.690C>T|c.(688-690)tcC>tcT|p.S230S|0.6633416458852868|ACTTCAAGTCCGGTAACATAT||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC033801|NM_000815.4|NP_000806.2|HGNC:4084|gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"gamma-aminobutyric_%20_acid_%20_(GABA)_%20_A_%20_receptor_%2C__%20_delta"||"GABA(A)_%20_receptor_%2C__%20_delta"|1p36.33|2016-10-05||2016-02-04|BC033801||2563|ENSG00000187730|2176788_%2C__%20_10965146|NM_000815|563|Gamma-aminobutyric_%20_acid_%20_type_%20_A_%20_receptor_%20_subunits|CCDS36|OTTHUMG00000041064|2563|137163|NM_000815|O14764|ENSG00000187730|uc001aip.3|GBRD_HUMAN|Acamprosate(DB00659)_%7C_Adinazolam(DB00546)_%7C_Alprazolam(DB00404)_%7C_Amoxapine(DB00543)_%7C_Bromazepam(DB01558)_%7C_Butabarbital(DB00237)_%7C_Butalbital(DB00241)_%7C_Chlordiazepoxide(DB00475)_%7C_Cinolazepam(DB01594)_%7C_Clobazam(DB00349)_%7C_Clonazepam(DB01068)_%7C_Clorazepate(DB00628)_%7C_Clotiazepam(DB01559)_%7C_Desflurane(DB01189)_%7C_Diazepam(DB00829)_%7C_Enflurane(DB00228)_%7C_Ergoloid_%20_mesylate(DB01049)_%7C_Estazolam(DB01215)_%7C_Eszopiclone(DB00402)_%7C_Ethchlorvynol(DB00189)_%7C_Etomidate(DB00292)_%7C_Fludiazepam(DB01567)_%7C_Flumazenil(DB01205)_%7C_Flurazepam(DB00690)_%7C_Glutethimide(DB01437)_%7C_Halazepam(DB00801)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Ketazolam(DB01587)_%7C_Lorazepam(DB00186)_%7C_Meprobamate(DB00371)_%7C_Methoxyflurane(DB01028)_%7C_Methyprylon(DB01107)_%7C_Midazolam(DB00683)_%7C_Nitrazepam(DB01595)_%7C_Olanzapine(DB00334)_%7C_Oxazepam(DB00842)_%7C_Pentobarbital(DB00312)_%7C_Prazepam(DB01588)_%7C_Primidone(DB00794)_%7C_Propofol(DB00818)_%7C_Quazepam(DB01589)_%7C_Sevoflurane(DB01236)_%7C_Talbutal(DB00306)_%7C_Temazepam(DB00231)_%7C_Topiramate(DB00273)_%7C_Triazolam(DB00897)|Q8N4N9|O14764|signal_%20_transduction_%20_(GO:0007165)_%7C_synaptic_%20_transmission_%20_(GO:0007268)_%7C_transport_%20_(GO:0006810)|cell_%20_junction_%20_(GO:0030054)_%7C_chloride_%20_channel_%20_complex_%20_(GO:0034707)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|chloride_%20_channel_%20_activity_%20_(GO:0005254)_%7C_extracellular_%20_ligand-gated_%20_ion_%20_channel_%20_activity_%20_(GO:0005230)_%7C_GABA-A_%20_receptor_%20_activity_%20_(GO:0004890)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1963108 psy_rs75228171 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1963108|1963108|IGR||SNP|T|T|C|g.chr1:1963108T>C|no_transcript|||||||0.6483790523690773|CCCAGGCATCTGGGGCGCTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1967954 rs2376803 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1967954|1967954|IGR||SNP|C|C|T|g.chr1:1967954C>T|no_transcript|||||||0.628428927680798|ACATCGTCCACGCAGCTCAGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1979253 psy_rs76775611 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1979253|1979253|IGR||SNP|G|G|A|g.chr1:1979253G>A|no_transcript|||||||0.6608478802992519|CTTCCAGGACGGAGGCTCCCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1986954 exm5157 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1986954|1986954|IGR||SNP|G|G|A|g.chr1:1986954G>A|no_transcript|||||||0.5211970074812967|GACATGTGTCGTCTGCACCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1992748 rs6605074 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1992748|1992748|IGR||SNP|C|C|T|g.chr1:1992748C>T|no_transcript|||||||0.6159600997506235|TTTCTGTCTACGACCTCGGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2004098 rs6663158 G A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2004098|2004098|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:2004098G>A|ENST00000400921.2|+||||||0.6259351620947631|GGGTTGGTGGGTTTGCATTTG||||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2017297 rs2803310 T C . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2017297|2017297|INTRON||SNP|T|T|C|g.chr1:2017297T>C|ENST00000400921.2|+|||c.e1+11929T>C|||0.5935162094763092|AGGTCTGCACTCATGGGTGGG||||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2024064 rs2459994 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2024064|2024064|INTRON||SNP|C|C|T|g.chr1:2024064C>T|ENST00000400921.2|+|||c.e1+18696C>T|||0.5037406483790524|AGCTTGAAGACGTTGTACGTG||||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2026749 rs884080 A G . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2026749|2026749|INTRON||SNP|A|A|G|g.chr1:2026749A>G|ENST00000400921.2|+|||c.e1+21381A>G|||0.6384039900249376|TGAGCTCACCATGGTTTTGGA||||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2027901 rs7513222 G A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2027901|2027901|INTRON||SNP|G|G|A|g.chr1:2027901G>A|ENST00000400921.2|+|||c.e1+22533G>A|||0.6309226932668329|CGCCAGGAACGCGGTTGTACG||||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2035684 rs10910030 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2035684|2035684|INTRON||SNP|C|C|T|g.chr1:2035684C>T|ENST00000400921.2|+|||c.e1+30316C>T|||0.6034912718204489|GGGAGGGGAGCGGGTCGTCTC|PRKCZ_ENST00000400920.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2038139 psy_rs12749493 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2038139|2038139|INTRON||SNP|C|C|T|g.chr1:2038139C>T|ENST00000400921.2|+|||c.e2-28562C>T|||0.6458852867830424|CAAGCCCCTCCGGTGGGCGAG|PRKCZ_ENST00000400920.1_INTRON|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2038732 rs12410859 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2038732|2038732|INTRON||SNP|C|C|T|g.chr1:2038732C>T|ENST00000400921.2|+|||c.e2-27969C>T|||0.6334164588528678|AACACTGAGGCGGGATTGCGT|PRKCZ_ENST00000400920.1_INTRON|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2040898 rs4648807 T C . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2040898|2040898|INTRON||SNP|T|T|C|g.chr1:2040898T>C|ENST00000400921.2|+|||c.e2-25803T>C|||0.6109725685785536|CTCACTGAATTGTCCTGAGAT|PRKCZ_ENST00000400920.1_INTRON|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2040936 rs4648808 T C . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2040936|2040936|INTRON||SNP|T|T|C|g.chr1:2040936T>C|ENST00000400921.2|+|||c.e2-25765T>C|||0.6159600997506235|ATTAAACATGTGGATTGCAAC|PRKCZ_ENST00000400920.1_INTRON|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2069172 exm-rs425277 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2069172|2069172|INTRON||SNP|C|C|T|g.chr1:2069172C>T|ENST00000400921.2|+|||c.e2+2386C>T|||0.5785536159600998|TCCATTCTGCCGATGGCAGGT|PRKCZ_ENST00000400920.1_INTRON|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2069681 exm-rs3753242 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2069681|2069681|INTRON||SNP|C|C|T|g.chr1:2069681C>T|ENST00000400921.2|+|||c.e2+2895C>T|||0.5486284289276808|GTTGGTGAAGCGAGGATGAAA|PRKCZ_ENST00000400920.1_INTRON|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2071340 rs424079 C A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2071340|2071340|INTRON||SNP|C|C|A|g.chr1:2071340C>A|ENST00000400921.2|+|||c.e3-4309C>A|||0.5311720698254364|CATGGTAGGGCCACGTCTCTG|PRKCZ_ENST00000400920.1_INTRON/PRKCZ_ENST00000479263.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2075653 exm5179 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2075653|2075653|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:2075653C>T|ENST00000400921.2|+|3|||||0.6508728179551122|CTGCAGAGAGCGTACTGCGGT|PRKCZ_ENST00000400920.1_FIVE_PRIME_UTR/RP5-892K4.1_ENST00000606533.1_RNA/PRKCZ_ENST00000479263.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2075672 exm5180 C G . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2075672|2075672|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:2075672C>G|ENST00000400921.2|+|3|||||0.6533665835411472|GTCAGTGCAGCGAGAGGATAT|PRKCZ_ENST00000400920.1_FIVE_PRIME_UTR/RP5-892K4.1_ENST00000606533.1_RNA/PRKCZ_ENST00000479263.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2075740 exm5184 G A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2075740|2075740|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:2075740G>A|ENST00000400921.2|+|3|||||0.6483790523690773|GTCCATAAGCGCTGCCACGGC|PRKCZ_ENST00000400920.1_FIVE_PRIME_UTR/RP5-892K4.1_ENST00000606533.1_RNA/PRKCZ_ENST00000479263.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2075748 exm1748820 G A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2075748|2075748|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:2075748G>A|ENST00000400921.2|+|3|||||0.6408977556109726|GCGCTGCCACGGCCTCGTCCC|PRKCZ_ENST00000400920.1_FIVE_PRIME_UTR/RP5-892K4.1_ENST00000606533.1_RNA/PRKCZ_ENST00000479263.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2076055 psy_rs384726 G A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2076055|2076055|INTRON||SNP|G|G|A|g.chr1:2076055G>A|ENST00000400921.2|+|||c.e3+275G>A|||0.6109725685785536|TCAGTGGGTCGGAGGTAAGGT|PRKCZ_ENST00000400920.1_INTRON/RP5-892K4.1_ENST00000606533.1_RNA/PRKCZ_ENST00000479263.1_INTRON|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2082566 rs2257182 T C . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2082566|2082566|INTRON||SNP|T|T|C|g.chr1:2082566T>C|ENST00000400921.2|+|||c.e6+149T>C|||0.5586034912718204|CATCGTGTAATGACCAGGATG|PRKCZ_ENST00000400920.1_INTRON/PRKCZ_ENST00000479263.1_INTRON|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2100840 rs262643 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2100840|2100840|INTRON||SNP|C|C|T|g.chr1:2100840C>T|ENST00000400921.2|+|||c.e8-117C>T|||0.6533665835411472|TTGCTCTTTGCAAGACTGAAC|PRKCZ_ENST00000400920.1_INTRON/PRKCZ_ENST00000479263.1_INTRON|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2106745 variant.297 G A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2106745|2106745|NONSENSE||SNP|G|G|A|g.chr1:2106745G>A|ENST00000400921.2|+|13|1702|c.1019G>A|c.(1018-1020)tGg>tAg|p.W340*|0.5885286783042394|AGCATAGACTGGGACTTGGTA|PRKCZ_ENST00000400920.1_NONSENSE_p.W340*/PRKCZ_ENST00000479263.1_INTRON|||||||||||||||||||||||||1332|biliary_tract(2)_%7C_breast(238)_%7C_central_nervous_system(77)_%7C_haematopoietic_and_lymphoid_tissue(135)_%7C_kidney(66)_%7C_large_intestine(97)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||Z15108|NM_001033581.1|NP_001028753.1|HGNC:9412|protein_%20_kinase_%20_C_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%20_C_%2C__%20_zeta"|PKC2||1p36.33|2016-10-05||2016-01-27|BC014270|2.7.11.1|5590|ENSG00000067606||NM_002744|||CCDS37_%2C__%20_CCDS41229_%2C__%20_CCDS55563|OTTHUMG00000001238|5590|176982|NM_001033581|Q05513|ENSG00000067606|uc001aiq.3|KPCZ_HUMAN|Tamoxifen(DB00675)|A8K4N0_%7C_A8MU64_%7C_B7Z2J7_%7C_E9PCW2_%7C_Q15207_%7C_Q5SYT5_%7C_Q969S4|Q05513|actin_%20_cytoskeleton_%20_reorganization_%20_(GO:0031532)_%7C_activation_%20_of_%20_phospholipase_%20_D_%20_activity_%20_(GO:0031584)_%7C_activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:0030010)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_hydrolase_%20_activity_%20_(GO:0051346)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046627)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050732)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0031333)_%7C_neuron_%20_projection_%20_extension_%20_(GO:1990138)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_interleukin-10_%20_secretion_%20_(GO:2001181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-13_%20_secretion_%20_(GO:2000667)_%7C_positive_%20_regulation_%20_of_%20_interleukin-4_%20_production_%20_(GO:0032753)_%7C_positive_%20_regulation_%20_of_%20_interleukin-5_%20_secretion_%20_(GO:2000664)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_cytokine_%20_production_%20_(GO:2000553)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_2_%20_cell_%20_differentiation_%20_(GO:0045630)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_kinase_%20_C_%20_signaling_%20_(GO:0070528)_%7C_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0072659)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_vesicle_%20_transport_%20_along_%20_microtubule_%20_(GO:0047496)|apical_%20_cortex_%20_(GO:0045179)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_axon_%20_hillock_%20_(GO:0043203)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_myelin_%20_sheath_%20_abaxonal_%20_region_%20_(GO:0035748)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|ATP_%20_binding_%20_(GO:0005524)_%7C_insulin_%20_receptor_%20_substrate_%20_binding_%20_(GO:0043560)_%7C_potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_kinase_%20_C_%20_activity_%20_(GO:0004697)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2125275 exm5287 C T . PASS FUNCOTATION=[C1orf86|hg19|chr1|2125275|2125275|SILENT||SNP|C|C|T|g.chr1:2125275C>T|ENST00000378546.4|-|3|298|c.273G>A|c.(271-273)ccG>ccA|p.P91P|0.683291770573566|ACAGGTCCGGCGGAAAGGGTG|C1orf86_ENST00000378545.3_SILENT_p.P194P/C1orf86_ENST00000400919.3_FIVE_PRIME_UTR/C1orf86_ENST00000487186.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_182533.2|NP_872339.2||||||||||||||||||||||||||||||FAP20_HUMAN||A6PW39_%7C_A6PW40_%7C_A6PW41_%7C_A8MQT6_%7C_F2Z2L4_%7C_Q6ZT64_%7C_Q71M24_%7C_Q96ND7|Q6NZ36|cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_interstrand_%20_cross-link_%20_repair_%20_(GO:0036297)_%7C_translesion_%20_synthesis_%20_(GO:0019985)|cell_%20_junction_%20_(GO:0030054)_%7C_chromosome_%20_(GO:0005694)_%7C_Fanconi_%20_anaemia_%20_nuclear_%20_complex_%20_(GO:0043240)_%7C_nucleus_%20_(GO:0005634)|K63-linked_%20_polyubiquitin_%20_binding_%20_(GO:0070530)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_polyubiquitin_%20_binding_%20_(GO:0031593)_%7C_ubiquitin_%20_binding_%20_(GO:0043130)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2135002 chr1_2135002 C T . PASS FUNCOTATION=[C1orf86|hg19|chr1|2135002|2135002|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:2135002C>T|ENST00000378545.3|-||||||0.6533665835411472|GTGCCCCTCACCTGGGGTGGA|C1orf86_ENST00000487186.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_001282670.1|NP_001269599.1||||||||||||||||||||||||||||||FAP20_HUMAN||A6PW39_%7C_A6PW40_%7C_A6PW41_%7C_A8MQT6_%7C_F2Z2L4_%7C_Q6ZT64_%7C_Q71M24_%7C_Q96ND7|Q6NZ36|cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_interstrand_%20_cross-link_%20_repair_%20_(GO:0036297)_%7C_translesion_%20_synthesis_%20_(GO:0019985)|cell_%20_junction_%20_(GO:0030054)_%7C_chromosome_%20_(GO:0005694)_%7C_Fanconi_%20_anaemia_%20_nuclear_%20_complex_%20_(GO:0043240)_%7C_nucleus_%20_(GO:0005634)|K63-linked_%20_polyubiquitin_%20_binding_%20_(GO:0070530)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_polyubiquitin_%20_binding_%20_(GO:0031593)_%7C_ubiquitin_%20_binding_%20_(GO:0043130)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2135002 chr1_2135002 C T . PASS FUNCOTATION=[C1orf86|hg19|chr1|2135002|2135002|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:2135002C>T|ENST00000378545.3|-||||||0.6533665835411472|GTGCCCCTCACCTGGGGTGGA|C1orf86_ENST00000487186.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_001282670.1|NP_001269599.1||||||||||||||||||||||||||||||FAP20_HUMAN||A6PW39_%7C_A6PW40_%7C_A6PW41_%7C_A8MQT6_%7C_F2Z2L4_%7C_Q6ZT64_%7C_Q71M24_%7C_Q96ND7|Q6NZ36|cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_interstrand_%20_cross-link_%20_repair_%20_(GO:0036297)_%7C_translesion_%20_synthesis_%20_(GO:0019985)|cell_%20_junction_%20_(GO:0030054)_%7C_chromosome_%20_(GO:0005694)_%7C_Fanconi_%20_anaemia_%20_nuclear_%20_complex_%20_(GO:0043240)_%7C_nucleus_%20_(GO:0005634)|K63-linked_%20_polyubiquitin_%20_binding_%20_(GO:0070530)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_polyubiquitin_%20_binding_%20_(GO:0031593)_%7C_ubiquitin_%20_binding_%20_(GO:0043130)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2143168 psy_rs171904 A G . PASS FUNCOTATION=[C1orf86|hg19|chr1|2143168|2143168|INTRON||SNP|A|A|G|g.chr1:2143168A>G|ENST00000487186.1|-|||c.e2-643T>C|||0.5411471321695761|GATTACAGGCATGAGCCACCG|RP11-181G12.4_ENST00000442483.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||||||||||||||||||||||||||||||||||FAP20_HUMAN||A6PW39_%7C_A6PW40_%7C_A6PW41_%7C_A8MQT6_%7C_F2Z2L4_%7C_Q6ZT64_%7C_Q71M24_%7C_Q96ND7|Q6NZ36|cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_interstrand_%20_cross-link_%20_repair_%20_(GO:0036297)_%7C_translesion_%20_synthesis_%20_(GO:0019985)|cell_%20_junction_%20_(GO:0030054)_%7C_chromosome_%20_(GO:0005694)_%7C_Fanconi_%20_anaemia_%20_nuclear_%20_complex_%20_(GO:0043240)_%7C_nucleus_%20_(GO:0005634)|K63-linked_%20_polyubiquitin_%20_binding_%20_(GO:0070530)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_polyubiquitin_%20_binding_%20_(GO:0031593)_%7C_ubiquitin_%20_binding_%20_(GO:0043130)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2143491 psy_rs143314458 G A . PASS FUNCOTATION=[AL590822.1|hg19|chr1|2143491|2143491|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:2143491G>A|ENST00000545087.1|-|1|||||0.571072319201995|ACAGGCGCCCGCCACCACGCC|C1orf86_ENST00000487186.1_INTRON/RP11-181G12.4_ENST00000442483.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||AL590822||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2146966 rs7512482 T C . PASS FUNCOTATION=[AL590822.1|hg19|chr1|2146966|2146966|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:2146966T>C|ENST00000545087.1|-||||||0.6758104738154613|AGGACCTGCGTGAAGGAGCCC|RP11-181G12.4_ENST00000442483.2_LINCRNA/RP11-181G12.5_ENST00000420964.1_FIVE_PRIME_FLANK/C1orf86_ENST00000487186.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||AL590822||||||||||||||||||||||||||||||||||||||||||true|false|0.7963_%2C_0.2037|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7512482|2146966|false|false|0|true|0|false|0.761969_%2C_0.238031|false|false|false|SNV|true|0x05010000000517053f000100|1|false|116|rs7512482|] +1 2156362 rs2460000 A G . PASS FUNCOTATION=[SKI|hg19|chr1|2156362|2156362|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:2156362A>G|ENST00000378536.4|+||||||0.6408977556109726|CAAGCTCAGGAAGAAAAGTGG||Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2173504 rs263526 T C . PASS FUNCOTATION=[SKI|hg19|chr1|2173504|2173504|INTRON||SNP|T|T|C|g.chr1:2173504T>C|ENST00000378536.4|+|||c.e1+12330T>C|||0.571072319201995|CAATATCTTGTTGGGAGGCAG||Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2173811 psy_rs55781948 C T . PASS FUNCOTATION=[SKI|hg19|chr1|2173811|2173811|INTRON||SNP|C|C|T|g.chr1:2173811C>T|ENST00000378536.4|+|||c.e1+12637C>T|||0.516209476309227|TGTTTGTTCACGTCAGGGGAG||Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2180524 rs260513 G A . PASS FUNCOTATION=[SKI|hg19|chr1|2180524|2180524|INTRON||SNP|G|G|A|g.chr1:2180524G>A|ENST00000378536.4|+|||c.e1+19350G>A|||0.6159600997506235|TGGCAGATGCGGTCGAGTGCT|SKI_ENST00000478223.2_INTRON|Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2184755 psy_rs114462818 C T . PASS FUNCOTATION=[SKI|hg19|chr1|2184755|2184755|INTRON||SNP|C|C|T|g.chr1:2184755C>T|ENST00000378536.4|+|||c.e1+23581C>T|||0.5685785536159601|CCAGAGCACCCAGGCCGGTAT|SKI_ENST00000478223.2_INTRON|Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2188679 psy_rs55683510 C T . PASS FUNCOTATION=[SKI|hg19|chr1|2188679|2188679|INTRON||SNP|C|C|T|g.chr1:2188679C>T|ENST00000378536.4|+|||c.e1+27505C>T|||0.5012468827930174|GTTTCCTCTGCATTCCTTTGG|SKI_ENST00000478223.2_INTRON|Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2189580 rs12084736 C T . PASS FUNCOTATION=[SKI|hg19|chr1|2189580|2189580|INTRON||SNP|C|C|T|g.chr1:2189580C>T|ENST00000378536.4|+|||c.e1+28406C>T|||0.46384039900249374|TTATTTGCGACTTTAACCAGA|SKI_ENST00000478223.2_INTRON|Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2202967 rs903908 T C . PASS FUNCOTATION=[SKI|hg19|chr1|2202967|2202967|INTRON||SNP|T|T|C|g.chr1:2202967T>C|ENST00000378536.4|+|||c.e2-31450T>C|||0.6783042394014963|TTCCGCGGAGTGCCCGGCTGC|SKI_ENST00000478223.2_INTRON|Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2211849 rs10910047 A G . PASS FUNCOTATION=[SKI|hg19|chr1|2211849|2211849|INTRON||SNP|A|A|G|g.chr1:2211849A>G|ENST00000378536.4|+|||c.e2-22568A>G|||0.5386533665835411|GCCCCTTCTCACAAGGGGGCT|SKI_ENST00000478223.2_INTRON|Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2216368 psy_rs4648821 T G . PASS FUNCOTATION=[SKI|hg19|chr1|2216368|2216368|INTRON||SNP|T|T|G|g.chr1:2216368T>G|ENST00000378536.4|+|||c.e2-18049T>G|||0.5660847880299252|AGGTGCACCATGCGGGCCTTT|SKI_ENST00000478223.2_INTRON|Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2220649 rs2017143 C T . PASS FUNCOTATION=[SKI|hg19|chr1|2220649|2220649|INTRON||SNP|C|C|T|g.chr1:2220649C>T|ENST00000378536.4|+|||c.e2-13768C>T|||0.6084788029925187|TATGTTGAGCCTCTCTAGGCA|SKI_ENST00000478223.2_INTRON|Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2223866 rs884940 C T . PASS FUNCOTATION=[SKI|hg19|chr1|2223866|2223866|INTRON||SNP|C|C|T|g.chr1:2223866C>T|ENST00000378536.4|+|||c.e2-10551C>T|||0.6209476309226932|ATCTAGCAGACGTTCATCAGG|SKI_ENST00000478223.2_INTRON|Ovarian(177_%3B_144_%20_1678_%20_13697_%20_20086_%20_27838_%20_40755)||||||||||||||||||||||||372|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)|||||||X15218|NM_003036.3|NP_003027.1|HGNC:10896|SKI_%20_proto-oncogene|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"v-ski_%20_avian_%20_sarcoma_%20_viral_%20_oncogene_%20_homolog"|||1p36.33-p36.32|2017-06-08||2014-06-25|X15218||6497|ENSG00000157933|2762147|NM_003036|748|SKI_%20_transcriptional_%20_corepressors|CCDS39|OTTHUMG00000001407|6497|164780|NM_003036|P12755|ENSG00000157933|uc001aja.5|SKI_HUMAN||Q5SYT7|P12755|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_morphogenesis_%20_(GO:0060349)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_cell_%20_motility_%20_(GO:0048870)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_embryonic_%20_limb_%20_morphogenesis_%20_(GO:0030326)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_lens_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0002089)_%7C_myelination_%20_in_%20_peripheral_%20_nervous_%20_system_%20_(GO:0022011)_%7C_myotube_%20_differentiation_%20_(GO:0014902)_%7C_negative_%20_regulation_%20_of_%20_activin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0032926)_%7C_negative_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030514)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_Schwann_%20_cell_%20_proliferation_%20_(GO:0010626)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nose_%20_morphogenesis_%20_(GO:0043585)_%7C_olfactory_%20_bulb_%20_development_%20_(GO:0021772)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043388)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048741)_%7C_SMAD_%20_protein_%20_signal_%20_transduction_%20_(GO:0060395)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_body_%20_(GO:0016604)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PML_%20_body_%20_(GO:0016605)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_deacetylase_%20_inhibitor_%20_activity_%20_(GO:0046811)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_SMAD_%20_binding_%20_(GO:0046332)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2242298 psy_rs146894003 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|2242298|2242298|IGR||SNP|G|G|A|g.chr1:2242298G>A|no_transcript|||||||0.6533665835411472|GTGCCATGCCGCATGCCAATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2254910 psy_rs2645075 T C . PASS FUNCOTATION=[MORN1|hg19|chr1|2254910|2254910|INTRON||SNP|T|T|C|g.chr1:2254910T>C|ENST00000378531.3|-|||c.e13-626A>G|||0.6683291770573566|TCAGCCGCGGTGCCCAGGTCC|AL589739.1_ENST00000600779.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.1851_%2C_0.8149|false|false|1||false|true|false|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2645075|2254910|true|false|0|true|0|false|0.184606_%2C_0.815394|false|false|false|SNV|true|0x05010008000515053f000100|1|false|100|rs2645075|] +1 2261222 rs2645065 C A . PASS FUNCOTATION=[MORN1|hg19|chr1|2261222|2261222|INTRON||SNP|C|C|A|g.chr1:2261222C>A|ENST00000378531.3|-|||c.e13+5640G>T|||0.6633416458852868|AGATAGTGTTCCCCAAGGCCC|RP4-713A8.1_ENST00000607720.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.9062_%2C_0.09385_%2C_.|false|false|1||false|true|false|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2645065|2261222|false|false|0|true|0|false|0.878975_%2C_0.121025_%2C_.|false|false|false|SNV|true|0x05010008000515053f000100|1|false|100|rs2645065|] +1 2263888 rs903904 C T . PASS FUNCOTATION=[MORN1|hg19|chr1|2263888|2263888|INTRON||SNP|C|C|T|g.chr1:2263888C>T|ENST00000378531.3|-|||c.e12-4020G>A|||0.6433915211970075|GATGGGCGACCCCTGGCCCCG|MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.8397_%2C_0.1603|false|false|1||false|true|false|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|903904|2263888|false|false|0|true|0|false|0.833665_%2C_0.166335|false|false|false|SNV|true|0x05010008000515053f000101|1|false|86|rs903904|] +1 2268156 exm5460 C G . PASS FUNCOTATION=[MORN1|hg19|chr1|2268156|2268156|SPLICE_SITE|MISSENSE|SNP|C|C|G|g.chr1:2268156C>G|ENST00000378531.3|-|11|1344|c.1170G>C|c.(1168-1170)aaG>aaC|p.K390N|0.655860349127182|GGGCACCCACCTTGTGGAGGC|MORN1_ENST00000606372.1_SPLICE_SITE|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false||false|false|||false|false|false|MORN1:79906|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|561543765|2268156|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000a05000402000100|1|false|142|rs561543765|] +1 2280661 rs2055204 G A . PASS FUNCOTATION=[MORN1|hg19|chr1|2280661|2280661|INTRON||SNP|G|G|A|g.chr1:2280661G>A|ENST00000378531.3|-|||c.e10-8210C>T|||0.6084788029925187|CCTCAGAGAAGAGAAAAGGAC|MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.5178_%2C_0.4822|false|false|1||false|true|true|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2055204|2280661|false|false|0|true|0|false|0.608455_%2C_0.391545|false|false|false|SNV|true|0x05010008000517053f000101|1|false|94|rs2055204|] +1 2281726 rs7527871 A C . PASS FUNCOTATION=[MORN1|hg19|chr1|2281726|2281726|INTRON||SNP|A|A|C|g.chr1:2281726A>C|ENST00000378531.3|-|||c.e10-7145T>G|||0.3516209476309227|TTCTCAACGAAATGCAAATCC|MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.7979_%2C_0.2021|false|false|1||false|true|false|LOC100129534:100129534_%7C_MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|7527871|2281726|false|false|0|true|0|false|0.850161_%2C_0.149839|false|false|false|SNV|true|0x0501000c000515053f000100|1|false|116|rs7527871|] +1 2282135 rs10910053 G A . PASS FUNCOTATION=[MORN1|hg19|chr1|2282135|2282135|INTRON||SNP|G|G|A|g.chr1:2282135G>A|ENST00000378531.3|-|||c.e10-6736C>T|||0.6234413965087282|AGTGGCCCTGGCCCAGCAGGA|RP4-740C4.6_ENST00000602865.1_RNA/MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.6753_%2C_0.3247|false|false|1||false|true|true|LOC100129534:100129534_%7C_MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10910053|2282135|false|false|0|true|0|false|0.646507_%2C_0.353493|false|false|false|SNV|true|0x05010008000517053f000100|1|false|120|rs10910053|] +1 2283117 rs4648831 C T . PASS FUNCOTATION=[MORN1|hg19|chr1|2283117|2283117|INTRON||SNP|C|C|T|g.chr1:2283117C>T|ENST00000378531.3|-|||c.e10-5754G>A|||0.5286783042394015|CTTTTCTTCACGTGCTGGTTG|RP4-740C4.6_ENST00000602865.1_RNA/MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.9077_%2C_._%2C_0.09225|false|false|1||false|true|false|LOC100129534:100129534_%7C_MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4648831|2283117|false|false|0|true|0|false|0.881654_%2C_._%2C_0.118346|false|false|false|SNV|true|0x050100080005150537000101|1|false|111|rs4648831|] +1 2283313 rs2843130 C G . PASS FUNCOTATION=[MORN1|hg19|chr1|2283313|2283313|INTRON||SNP|C|C|G|g.chr1:2283313C>G|ENST00000378531.3|-|||c.e10-5558G>C|||0.5211970074812967|GCCGTTCCCCCAGATCCAATG|RP4-740C4.6_ENST00000602865.1_RNA/MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.8155_%2C_0.1845|false|false|1||false|true|false|LOC100129534:100129534_%7C_MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2843130|2283313|true|false|0|true|0|false|0.881894_%2C_0.118106|false|false|false|SNV|true|0x050100080005150537000100|1|false|100|rs2843130|] +1 2283896 rs2840528 A G . PASS FUNCOTATION=[MORN1|hg19|chr1|2283896|2283896|INTRON||SNP|A|A|G|g.chr1:2283896A>G|ENST00000378531.3|-|||c.e10-4975T>C|||0.5910224438902744|TGCTAAAAGTAGCCACATCTC|RP4-740C4.6_ENST00000602865.1_RNA/MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.4283_%2C_0.5717|false|false|1||false|true|false|LOC100129534:100129534_%7C_MORN1:79906|true|true|true|true|true|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|2840528|2283896|false|false|0|true|0|false|0.433272_%2C_0.566728|false|false|false|SNV|true|0x05012008000515053f020101|1|false|100|rs2840528|] +1 2284003 rs2645082 T C . PASS FUNCOTATION=[MORN1|hg19|chr1|2284003|2284003|INTRON||SNP|T|T|C|g.chr1:2284003T>C|ENST00000378531.3|-|||c.e10-4868A>G|||0.5960099750623441|GGGAGCCACCTGAGGGGCTTG|RP4-740C4.6_ENST00000602865.1_RNA/MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.123_%2C_0.877|false|false|1||false|true|false|LOC100129534:100129534_%7C_MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2645082|2284003|false|false|0|true|0|false|0.153685_%2C_0.846315|false|false|false|SNV|true|0x05010008000515053f000100|1|false|100|rs2645082|] +1 2284195 rs3795272 T C . PASS FUNCOTATION=[MORN1|hg19|chr1|2284195|2284195|INTRON||SNP|T|T|C|g.chr1:2284195T>C|ENST00000378531.3|-|||c.e10-4676A>G|||0.6084788029925187|GCAGGTACCCTGGAGATTTTC|RP4-740C4.6_ENST00000602865.1_RNA/MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.6893_%2C_0.3107|false|false|1||false|true|true|LOC100129534:100129534_%7C_MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3795272|2284195|true|false|0|true|0|false|0.711072_%2C_0.288928|false|false|false|SNV|true|0x0501000a000517053f000100|1|false|107|rs3795272|] +1 2306695 rs2279703 C T . PASS FUNCOTATION=[MORN1|hg19|chr1|2306695|2306695|INTRON||SNP|C|C|T|g.chr1:2306695C>T|ENST00000378529.3|-|||c.e7+699G>A|||0.5361596009975063|TGTTCACTCTCTGGCAGGAGC|MORN1_ENST00000378531.3_INTRON/RP4-740C4.9_ENST00000606642.1_RNA/MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|||HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.6216_%2C_0.3784|false|false|1||false|true|true|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2279703|2306695|false|false|0|true|0|false|0.67223_%2C_0.32777|false|false|false|SNV|true|0x05010008000517053f000100|1|false|100|rs2279703|] +1 2309082 rs2843160 T G . PASS FUNCOTATION=[MORN1|hg19|chr1|2309082|2309082|INTRON||SNP|T|T|G|g.chr1:2309082T>G|ENST00000378529.3|-|||c.e7+3086A>C|||0.5985037406483791|TATTGGAAGCTATGCCCTCTG|MORN1_ENST00000378531.3_INTRON/RP4-740C4.8_ENST00000606280.1_RNA/MORN1_ENST00000606372.1_INTRON/RP4-740C4.9_ENST00000606642.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|||HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.5102_%2C_0.4898|false|false|1||false|true|false|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2843160|2309082|true|false|0|true|0|false|0.574559_%2C_0.425441|false|false|false|SNV|true|0x05010008000515053f000100|1|false|100|rs2843160|] +1 2327075 rs3736330 C T . PASS FUNCOTATION=[RER1|hg19|chr1|2327075|2327075|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:2327075C>T|ENST00000488353.1|+|1|||||0.5211970074812967|TACTTTTTCCCGAACAATTCA|RER1_ENST00000605895.1_INTRON/RER1_ENST00000378512.1_INTRON/RER1_ENST00000378518.1_INTRON/RER1_ENST00000378513.3_INTRON/MORN1_ENST00000378529.3_FIVE_PRIME_FLANK/MORN1_ENST00000378531.3_FIVE_PRIME_FLANK/MORN1_ENST00000606372.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|||HGNC:30309|retention_%20_in_%20_endoplasmic_%20_reticulum_%20_sorting_%20_receptor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"RER1_%20_retention_%20_in_%20_endoplasmic_%20_reticulum_%20_1_%20_homolog_%20_(S._%20_cerevisiae)"|||1p36.32|2016-10-05||2013-10-18|AF157324||11079|ENSG00000157916|9309388_%2C__%20_17668005||||CCDS41232|OTTHUMG00000001403|11079||NM_007033|O15258|ENSG00000157916|uc001aje.3|RER1_HUMAN||O95322|O15258|positive_%20_regulation_%20_of_%20_establishment_%20_of_%20_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0090004)_%7C_retrograde_%20_vesicle-mediated_%20_transport_%2C__%20_Golgi_%20_to_%20_ER_%20_(GO:0006890)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)|cell_%20_surface_%20_(GO:0009986)_%7C_endoplasmic_%20_reticulum-Golgi_%20_intermediate_%20_compartment_%20_(GO:0005793)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_Golgi_%20_membrane_%20_(GO:0030173)|||||true|false|0.7638_%2C_0.2362|false|false|1||false|true|false|RER1:11079|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3736330|2327075|false|false|0|true|0|false|0.789718_%2C_0.210282|false|false|false|SNV|true|0x050100080005150537000100|1|false|107|rs3736330|] +1 2327815 exm2268641 C T . PASS FUNCOTATION=[RER1|hg19|chr1|2327815|2327815|INTRON||SNP|C|C|T|g.chr1:2327815C>T|ENST00000605895.1|+|||c.e2+505C>T|||0.4613466334164589|CTTGGGTCACCGGCAGTTCCA|RER1_ENST00000488353.1_INTRON/RER1_ENST00000378512.1_INTRON/RER1_ENST00000378518.1_INTRON/RER1_ENST00000378513.3_INTRON/MORN1_ENST00000378529.3_FIVE_PRIME_FLANK/MORN1_ENST00000378531.3_FIVE_PRIME_FLANK/MORN1_ENST00000606372.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_007033.4|NP_008964.3|HGNC:30309|retention_%20_in_%20_endoplasmic_%20_reticulum_%20_sorting_%20_receptor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"RER1_%20_retention_%20_in_%20_endoplasmic_%20_reticulum_%20_1_%20_homolog_%20_(S._%20_cerevisiae)"|||1p36.32|2016-10-05||2013-10-18|AF157324||11079|ENSG00000157916|9309388_%2C__%20_17668005||||CCDS41232|OTTHUMG00000001403|11079||NM_007033|O15258|ENSG00000157916|uc001aje.3|RER1_HUMAN||O95322|O15258|positive_%20_regulation_%20_of_%20_establishment_%20_of_%20_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0090004)_%7C_retrograde_%20_vesicle-mediated_%20_transport_%2C__%20_Golgi_%20_to_%20_ER_%20_(GO:0006890)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)|cell_%20_surface_%20_(GO:0009986)_%7C_endoplasmic_%20_reticulum-Golgi_%20_intermediate_%20_compartment_%20_(GO:0005793)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_Golgi_%20_membrane_%20_(GO:0030173)|||||true|false|0.4758_%2C_0.5242|false|false|1||false|true|false|RER1:11079|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2840532|2327815|true|false|0|true|0|false|0.482588_%2C_0.517412|false|false|false|SNV|true|0x05010008000515053f000101|1|false|100|rs2840532|] +1 2330190 rs6693447 T G . PASS FUNCOTATION=[RER1|hg19|chr1|2330190|2330190|INTRON||SNP|T|T|G|g.chr1:2330190T>G|ENST00000605895.1|+|||c.e4-664T>G|||0.4488778054862843|TGCTTAATCATTTTAAAAAAT|RER1_ENST00000488353.1_INTRON/RER1_ENST00000378512.1_INTRON/RER1_ENST00000378518.1_INTRON/RER1_ENST00000378513.3_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_007033.4|NP_008964.3|HGNC:30309|retention_%20_in_%20_endoplasmic_%20_reticulum_%20_sorting_%20_receptor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"RER1_%20_retention_%20_in_%20_endoplasmic_%20_reticulum_%20_1_%20_homolog_%20_(S._%20_cerevisiae)"|||1p36.32|2016-10-05||2013-10-18|AF157324||11079|ENSG00000157916|9309388_%2C__%20_17668005||||CCDS41232|OTTHUMG00000001403|11079||NM_007033|O15258|ENSG00000157916|uc001aje.3|RER1_HUMAN||O95322|O15258|positive_%20_regulation_%20_of_%20_establishment_%20_of_%20_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0090004)_%7C_retrograde_%20_vesicle-mediated_%20_transport_%2C__%20_Golgi_%20_to_%20_ER_%20_(GO:0006890)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)|cell_%20_surface_%20_(GO:0009986)_%7C_endoplasmic_%20_reticulum-Golgi_%20_intermediate_%20_compartment_%20_(GO:0005793)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_Golgi_%20_membrane_%20_(GO:0030173)|||||true|false|0.6514_%2C_0.3486|false|false|1||false|true|true|RER1:11079|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6693447|2330190|false|false|0|true|0|false|0.627584_%2C_0.372416|false|false|false|SNV|true|0x05010008000517053f000100|1|false|116|rs6693447|] +1 2330953 variant.313 G A . PASS FUNCOTATION=[RER1|hg19|chr1|2330953|2330953|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:2330953G>A|ENST00000605895.1|+|4|419|c.286G>A|c.(286-288)Gat>Aat|p.D96N|0.4763092269326683|GGAAGACTCAGGTAGGGTAGC|RER1_ENST00000488353.1_SPLICE_SITE_p.D96N/RER1_ENST00000378512.1_SPLICE_SITE_p.D96N/RER1_ENST00000378518.1_INTRON/RER1_ENST00000378513.3_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_007033.4|NP_008964.3|HGNC:30309|retention_%20_in_%20_endoplasmic_%20_reticulum_%20_sorting_%20_receptor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"RER1_%20_retention_%20_in_%20_endoplasmic_%20_reticulum_%20_1_%20_homolog_%20_(S._%20_cerevisiae)"|||1p36.32|2016-10-05||2013-10-18|AF157324||11079|ENSG00000157916|9309388_%2C__%20_17668005||||CCDS41232|OTTHUMG00000001403|11079||NM_007033|O15258|ENSG00000157916|uc001aje.3|RER1_HUMAN||O95322|O15258|positive_%20_regulation_%20_of_%20_establishment_%20_of_%20_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0090004)_%7C_retrograde_%20_vesicle-mediated_%20_transport_%2C__%20_Golgi_%20_to_%20_ER_%20_(GO:0006890)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)|cell_%20_surface_%20_(GO:0009986)_%7C_endoplasmic_%20_reticulum-Golgi_%20_intermediate_%20_compartment_%20_(GO:0005793)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_Golgi_%20_membrane_%20_(GO:0030173)|||||true|false||false|false|||false|false|false|RER1:11079|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|769814129|2330953|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000a05000402000100|1|false|144|rs769814129|] +1 2351699 rs3935659 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|2351699|2351699|IGR||SNP|T|T|C|g.chr1:2351699T>C|no_transcript|||||||0.6209476309226932|AGGCAGCACCTACCTCTTGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2352146 rs12731309 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|2352146|2352146|IGR||SNP|C|C|T|g.chr1:2352146C>T|no_transcript|||||||0.543640897755611|GAAAAATCTCCTCTTCAGGCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2358944 rs10797423 A C . PASS FUNCOTATION=[Unknown|hg19|chr1|2358944|2358944|IGR||SNP|A|A|C|g.chr1:2358944A>C|no_transcript|||||||0.6758104738154613|AGGGAGAGGGAGCCCCTCTGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6398_%2C_0.3602_%2C_.|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10797423|2358944|false|false|0|true|0|false|0.642214_%2C_0.357786_%2C_.|false|false|false|SNV|true|0x05010000000517053f000100|1|false|120|rs10797423|] +1 2359917 rs2494436 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|2359917|2359917|IGR||SNP|T|T|C|g.chr1:2359917T>C|no_transcript|||||||0.685785536159601|CTGTCCTGCATGGGGTCCTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2606_%2C_0.7394|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2494436|2359917|false|false|0|true|0|false|0.2823_%2C_0.7177|false|false|false|SNV|true|0x05010000000517053f000100|1|false|100|rs2494436|] +1 2359940 rs7515934 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|2359940|2359940|IGR||SNP|C|C|T|g.chr1:2359940C>T|no_transcript|||||||0.6758104738154613|CTGGCTCGCCCGGTGCCGTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8113_%2C_0.1887|false|false|1||false|true|false||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7515934|2359940|false|false|0|true|0|false|0.85758_%2C_0.14242|false|false|false|SNV|true|0x050100000005150537000100|1|false|116|rs7515934|] +1 2362827 rs2494641 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|2362827|2362827|IGR||SNP|C|C|T|g.chr1:2362827C>T|no_transcript|||||||0.6408977556109726|GAGGTGGCTCCGGCTTGTCAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6795_%2C_0.3205|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2494641|2362827|true|false|0|true|0|false|0.714403_%2C_0.285597|false|false|false|SNV|true|0x05010000000517053f000100|1|false|100|rs2494641|] +1 2366611 psy_rs75631842 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|2366611|2366611|IGR||SNP|G|G|A|g.chr1:2366611G>A|no_transcript|||||||0.6533665835411472|TCACCAGGACGAAGGAGAGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8618_%2C_0.1382|false|false|1||false|true|false||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|75631842|2366611|false|false|0|true|0|false|0.882341_%2C_0.117659|false|false|false|SNV|true|0x050100000005150536000100|1|false|131|rs75631842|] +1 2368232 psy_rs4233033 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|2368232|2368232|IGR||SNP|T|T|C|g.chr1:2368232T>C|no_transcript|||||||0.6433915211970075|TCGTGGGCACTGTGGCTCCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3239_%2C_0.6761|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4233033|2368232|false|false|0|true|0|false|0.423243_%2C_0.576757|false|false|false|SNV|true|0x05010000000517053e000100|1|false|111|rs4233033|] +1 2368706 psy_rs2494439 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|2368706|2368706|IGR||SNP|T|T|C|g.chr1:2368706T>C|no_transcript|||||||0.6209476309226932|CGAGCCCCTCTTCTCTGAGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4397_%2C_0.5603|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2494439|2368706|false|false|0|true|0|false|0.549042_%2C_0.450958|false|false|false|SNV|true|0x05010000000517053e000100|1|false|100|rs2494439|] +1 2368775 psy_rs2494639 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|2368775|2368775|IGR||SNP|T|T|C|g.chr1:2368775T>C|no_transcript|||||||0.6209476309226932|AGTGCCCAGCTCCTACTCCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3782_%2C_0.6218|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2494639|2368775|true|false|0|true|0|false|0.48197_%2C_0.51803|false|false|false|SNV|true|0x05010000000517053e000100|1|false|100|rs2494639|] +1 2369375 psy_rs80047719 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|2369375|2369375|IGR||SNP|G|G|A|g.chr1:2369375G>A|no_transcript|||||||0.5835411471321695|CTTTGGCCTCGAAGGCCTTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9545_%2C_0.04553|false|false|1||false|true|false||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|80047719|2369375|false|false|0|true|0|false|0.951508_%2C_0.0484923|false|false|false|SNV|true|0x050100000005150536000100|1|false|132|rs80047719|] +1 2369498 psy_rs4592207 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|2369498|2369498|IGR||SNP|T|T|C|g.chr1:2369498T>C|no_transcript|||||||0.6433915211970075|TCTTGGCAACTTGGTTGTGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.472_%2C_0.528|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4592207|2369498|false|false|0|true|0|false|0.601346_%2C_0.398654|false|false|false|SNV|true|0x05010000000517053e000100|1|false|111|rs4592207|] +1 2372320 psy_rs12033966 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|2372320|2372320|IGR||SNP|A|A|G|g.chr1:2372320A>G|no_transcript|||||||0.6184538653366584|GTGCTTGGCCACGTCCCCCCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8976_%2C_0.1024|false|false|1||false|true|false||true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|12033966|2372320|false|false|0|true|0|false|0.938938_%2C_0.0610619|false|false|false|SNV|true|0x05010000000515013e000100|1|false|120|rs12033966|] +1 2372321 psy_rs58946679 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|2372321|2372321|IGR||SNP|C|C|T|g.chr1:2372321C>T|no_transcript|||||||0.6159600997506235|TGCTTGGCCACGTCCCCCCGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6154_%2C_0.3846|false|false|1||false|true|true||true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|58946679|2372321|false|false|0|true|0|false|0.708462_%2C_0.291538|false|false|false|SNV|true|0x050100000005170136000100|1|false|129|rs58946679|] +1 2372397 psy_rs6688934 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|2372397|2372397|IGR||SNP|A|A|G|g.chr1:2372397A>G|no_transcript|||||||0.6109725685785536|CACAACTGCCAAGATCTGGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.281_%2C_0.719|false|false|1||false|true|true||true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6688934|2372397|false|false|0|true|0|false|0.36462_%2C_0.63538|false|false|false|SNV|true|0x05010000000517013e000100|1|false|116|rs6688934|] +1 2372858 psy_rs2494425 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|2372858|2372858|IGR||SNP|T|T|C|g.chr1:2372858T>C|no_transcript|||||||0.6259351620947631|AGCCTGGGGATGTTCATTCAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2019_%2C_0.7981|false|false|1||false|true|false||true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2494425|2372858|false|false|0|true|0|false|0.272752_%2C_0.727248|false|false|false|SNV|true|0x05010000000515013e000100|1|false|100|rs2494425|] +1 2373089 rs6659405 G T . PASS FUNCOTATION=[Unknown|hg19|chr1|2373089|2373089|IGR||SNP|G|G|T|g.chr1:2373089G>T|no_transcript|||||||0.6059850374064838|GGTCCCTGGTGTAGGGGTAAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6641_%2C_0.3359|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6659405|2373089|false|false|0|true|0|false|0.745278_%2C_0.254722|false|false|false|SNV|true|0x05010000000517053f000100|1|false|116|rs6659405|] +1 2381622 psy_rs867809 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|2381622|2381622|IGR||SNP|A|A|G|g.chr1:2381622A>G|no_transcript|||||||0.6209476309226932|CTGGGCCTCGACGGGGGGGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.531_%2C_0.469|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|867809|2381622|false|false|0|true|0|false|0.598599_%2C_0.401401|false|false|false|SNV|true|0x05010000000517053e000100|1|false|86|rs867809|] +1 2383756 psy_rs10797425 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|2383756|2383756|IGR||SNP|A|A|G|g.chr1:2383756A>G|no_transcript|||||||0.6807980049875312|CCTGCCTGGCAGGTAGCAGCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4669_%2C_0.5331|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10797425|2383756|false|false|0|true|0|false|0.532592_%2C_0.467408|false|false|false|SNV|true|0x05010000000517053e000100|1|false|120|rs10797425|] +1 2387101 rs4648845 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|2387101|2387101|IGR||SNP|C|C|T|g.chr1:2387101C>T|no_transcript|||||||0.6807980049875312|CAGGAGCAGTCAGAAGCTTCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3766_%2C_0.6234|false|false|1||false|true|true||true|true|false|true|true|false|true|false|false|false|false|false|false|false|false|true|true|false|false|false|4648845|2387101|false|false|0|true|0|false|0.514905_%2C_0.485095|false|false|false|SNV|true|0x05012800000517053f020100|1|false|111|rs4648845|] +1 2387269 psy_rs61763911 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|2387269|2387269|IGR||SNP|G|G|A|g.chr1:2387269G>A|no_transcript|||||||0.6433915211970075|CTCCCCGGCCGTGCCCCGGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7384_%2C_0.2616|false|false|1||false|true|true||true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|61763911|2387269|false|false|0|true|0|false|0.770486_%2C_0.229514|false|false|false|SNV|true|0x050100000005170136000100|1|false|129|rs61763911|] +1 2387715 psy_rs12037821 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|2387715|2387715|IGR||SNP|C|C|T|g.chr1:2387715C>T|no_transcript|||||||0.6608478802992519|CGAGCGCAGCCCCCCCAGTTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8452_%2C_._%2C_._%2C_0.1548|false|false|1||false|true|false||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|12037821|2387715|false|false|0|true|0|false|0.908201_%2C_._%2C_._%2C_0.0917989|false|false|false|SNV|true|0x050100000005150536000100|1|false|120|rs12037821|] +1 2389152 psy_rs4648846 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|2389152|2389152|IGR||SNP|G|G|A|g.chr1:2389152G>A|no_transcript|||||||0.5935162094763092|CCCCAAAGGCGAAGGTGGCTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6532_%2C_0.3468|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4648846|2389152|false|false|0|true|0|false|0.739078_%2C_0.260922|false|false|false|SNV|true|0x05010000000517053e000100|1|false|111|rs4648846|] +1 2420787 exm2250942 A T . PASS FUNCOTATION=[PLCH2|hg19|chr1|2420787|2420787|SILENT||SNP|A|A|T|g.chr1:2420787A>T|ENST00000419816.2|+|9|1651|c.1377A>T|c.(1375-1377)ccA>ccT|p.P459P|0.5960099750623441|TCCCCTCTCCACAGATGCTCA|PLCH2_ENST00000449969.1_SILENT_p.P432P/PLCH2_ENST00000378486.3_SILENT_p.P459P/PLCH2_ENST00000378488.3_SILENT_p.P459P/PLCH2_ENST00000288766.5_INTRON|||||||||||||||||||||||||228|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(46)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_skin(43)|||||||DQ176850|||HGNC:29037|phospholipase_%20_C_%20_eta_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PLCL4|"phospholipase_%20_C-like_%20_4"_%2C__%20_"phospholipase_%20_C_%2C__%20_eta_%20_2"|KIAA0450_%2C__%20_PLCeta2_%2C__%20_RP3-395M20.1_%2C__%20_PLC-eta2|"1-phosphatidylinositol_%20_4_%2C_5-bisphosphate_%20_phosphodiesterase_%20_eta-2"|1p36.32|2015-11-17|2006-03-16|2015-11-17|AB007919|3.1.4.11|9651|ENSG00000149527|15899900|NM_014638|467_%7C_863|Phospholipases_%7C_EF-hand_%20_domain_%20_containing|CCDS59959|OTTHUMG00000000719|9651|612836|NM_001303012|O75038|ENSG00000149527|uc057bmp.1|PLCH2_HUMAN||A2VCM3_%7C_B9DI80_%7C_Q3LUA8_%7C_Q86XJ2_%7C_Q86XU1_%7C_Q86YU7_%7C_Q8TEH5_%7C_Q8WUS6|O75038|inositol_%20_phosphate_%20_metabolic_%20_process_%20_(GO:0043647)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_lipid_%20_catabolic_%20_process_%20_(GO:0016042)_%7C_phosphatidylinositol_%20_metabolic_%20_process_%20_(GO:0046488)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytoplasm_%20_(GO:0005737)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_phosphatidylinositol_%20_phospholipase_%20_C_%20_activity_%20_(GO:0004435)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false||false|false|||false|false|false|PLCH2:9651|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|202216018|2420787|false|true|0|false|0|true|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050200000305040402000100|1|false|137|rs202216018|] +1 2440415 exm2250954 G A . PASS FUNCOTATION=[PANK4|hg19|chr1|2440415|2440415|SILENT||SNP|G|G|A|g.chr1:2440415G>A|ENST00000378466.3|-|19|2206|c.2193C>T|c.(2191-2193)caC>caT|p.H731H|0.6234413965087282|GGTAGTTTGTGTGGACAGCAC|PANK4_ENST00000435556.3_SILENT_p.H692H|||||||||||||||||||||||||276|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(22)_%7C_large_intestine(37)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_upper_aerodigestive_tract(121)|||||||CH471183|NM_018216.1|NP_060686.1|HGNC:19366|pantothenate_%20_kinase_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10782||1p36.32|2015-08-25|||AK001644||55229|ENSG00000157881|11479594||||CCDS42|OTTHUMG00000000791|55229|606162|NM_018216|Q9NVE7|ENSG00000157881|uc001ajm.3|PANK4_HUMAN||B9DI84_%7C_Q53EU3_%7C_Q5TA84_%7C_Q7RTX3_%7C_Q9H3X5|Q9NVE7|coenzyme_%20_A_%20_biosynthetic_%20_process_%20_(GO:0015937)|cytoplasm_%20_(GO:0005737)|ATP_%20_binding_%20_(GO:0005524)_%7C_pantothenate_%20_kinase_%20_activity_%20_(GO:0004594)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|PANK4:55229|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|141941464|2440415|false|true|0|true|0|true|0.998523_%2C_0.00147675|false|false|false|SNV|true|0x050300000305040426000100|1|false|134|rs141941464|] +1 2440415 exm5910 G A . PASS FUNCOTATION=[PANK4|hg19|chr1|2440415|2440415|SILENT||SNP|G|G|A|g.chr1:2440415G>A|ENST00000378466.3|-|19|2206|c.2193C>T|c.(2191-2193)caC>caT|p.H731H|0.6234413965087282|GGTAGTTTGTGTGGACAGCAC|PANK4_ENST00000435556.3_SILENT_p.H692H|||||||||||||||||||||||||276|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(22)_%7C_large_intestine(37)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_upper_aerodigestive_tract(121)|||||||CH471183|NM_018216.1|NP_060686.1|HGNC:19366|pantothenate_%20_kinase_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10782||1p36.32|2015-08-25|||AK001644||55229|ENSG00000157881|11479594||||CCDS42|OTTHUMG00000000791|55229|606162|NM_018216|Q9NVE7|ENSG00000157881|uc001ajm.3|PANK4_HUMAN||B9DI84_%7C_Q53EU3_%7C_Q5TA84_%7C_Q7RTX3_%7C_Q9H3X5|Q9NVE7|coenzyme_%20_A_%20_biosynthetic_%20_process_%20_(GO:0015937)|cytoplasm_%20_(GO:0005737)|ATP_%20_binding_%20_(GO:0005524)_%7C_pantothenate_%20_kinase_%20_activity_%20_(GO:0004594)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|PANK4:55229|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|141941464|2440415|false|true|0|true|0|true|0.998523_%2C_0.00147675|false|false|false|SNV|true|0x050300000305040426000100|1|false|134|rs141941464|] +1 2450733 indel.338 AG A . PASS FUNCOTATION=[PANK4|hg19|chr1|2450734|2450734|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:2450734delG|ENST00000378466.3|-|7|897|c.883delC|c.(883-885)ctgfs|p.L295fs|0.6059850374064838|ATGTGCAGCAGGCTCTTCGCC|PANK4_ENST00000435556.3_FRAME_SHIFT_DEL_p.L256fs|||||||||||||||||||||||||276|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(22)_%7C_large_intestine(37)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_upper_aerodigestive_tract(121)|||||||CH471183|NM_018216.1|NP_060686.1|HGNC:19366|pantothenate_%20_kinase_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10782||1p36.32|2015-08-25|||AK001644||55229|ENSG00000157881|11479594||||CCDS42|OTTHUMG00000000791|55229|606162|NM_018216|Q9NVE7|ENSG00000157881|uc001ajm.3|PANK4_HUMAN||B9DI84_%7C_Q53EU3_%7C_Q5TA84_%7C_Q7RTX3_%7C_Q9H3X5|Q9NVE7|coenzyme_%20_A_%20_biosynthetic_%20_process_%20_(GO:0015937)|cytoplasm_%20_(GO:0005737)|ATP_%20_binding_%20_(GO:0005524)_%7C_pantothenate_%20_kinase_%20_activity_%20_(GO:0004594)||||true|false||false|false|||false|false|false|PANK4:55229|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|764053138|2450734|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs764053138|] +1 2461316 exm2250972 C T . PASS FUNCOTATION=[HES5|hg19|chr1|2461316|2461316|SILENT||SNP|C|C|T|g.chr1:2461316C>T|ENST00000378453.3|-|2|270|c.189G>A|c.(187-189)gaG>gaA|p.E63E|0.7231920199501247|TGACAGCCATCTCCAGGATGT|PANK4_ENST00000378466.3_FIVE_PRIME_FLANK/PANK4_ENST00000435556.3_FIVE_PRIME_FLANK/PANK4_ENST00000491212.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||522|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(134)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||DQ272660|NM_001010926.3|NP_001010926.1|HGNC:19764|hes_%20_family_%20_bHLH_%20_transcription_%20_factor_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"hairy_%20_and_%20_enhancer_%20_of_%20_split_%20_5_%20_(Drosophila)"|bHLHb38||1p36.32|2016-10-05||2013-10-17|AL139246||388585|ENSG00000197921|7836401||420|Basic_%20_helix-loop-helix_%20_proteins|CCDS41233|OTTHUMG00000000793|388585|607348|NM_001010926|Q5TA89|ENSG00000197921|uc001ajn.3|HES5_HUMAN||B9DI85|Q5TA89|astrocyte_%20_differentiation_%20_(GO:0048708)_%7C_auditory_%20_receptor_%20_cell_%20_differentiation_%20_(GO:0042491)_%7C_auditory_%20_receptor_%20_cell_%20_fate_%20_determination_%20_(GO:0042668)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_cartilage_%20_development_%20_(GO:0051216)_%7C_cell_%20_adhesion_%20_(GO:0007155)_%7C_cell_%20_maturation_%20_(GO:0048469)_%7C_central_%20_nervous_%20_system_%20_myelination_%20_(GO:0022010)_%7C_comma-shaped_%20_body_%20_morphogenesis_%20_(GO:0072049)_%7C_forebrain_%20_radial_%20_glial_%20_cell_%20_differentiation_%20_(GO:0021861)_%7C_glial_%20_cell_%20_fate_%20_commitment_%20_(GO:0021781)_%7C_metanephric_%20_nephron_%20_tubule_%20_morphogenesis_%20_(GO:0072282)_%7C_negative_%20_regulation_%20_of_%20_astrocyte_%20_differentiation_%20_(GO:0048712)_%7C_negative_%20_regulation_%20_of_%20_forebrain_%20_neuron_%20_differentiation_%20_(GO:2000978)_%7C_negative_%20_regulation_%20_of_%20_inner_%20_ear_%20_receptor_%20_cell_%20_differentiation_%20_(GO:2000981)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_differentiation_%20_(GO:0045665)_%7C_negative_%20_regulation_%20_of_%20_oligodendrocyte_%20_differentiation_%20_(GO:0048715)_%7C_negative_%20_regulation_%20_of_%20_pro-B_%20_cell_%20_differentiation_%20_(GO:2000974)_%7C_negative_%20_regulation_%20_of_%20_stem_%20_cell_%20_differentiation_%20_(GO:2000737)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_neural_%20_tube_%20_development_%20_(GO:0021915)_%7C_neuronal_%20_stem_%20_cell_%20_maintenance_%20_(GO:0097150)_%7C_Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_oligodendrocyte_%20_development_%20_(GO:0014003)_%7C_positive_%20_regulation_%20_of_%20_BMP_%20_signaling_%20_pathway_%20_(GO:0030513)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_JAK-STAT_%20_cascade_%20_(GO:0046427)_%7C_positive_%20_regulation_%20_of_%20_Notch_%20_signaling_%20_pathway_%20_(GO:0045747)_%7C_positive_%20_regulation_%20_of_%20_smooth_%20_muscle_%20_cell_%20_proliferation_%20_(GO:0048661)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_positive_%20_regulation_%20_of_%20_tyrosine_%20_phosphorylation_%20_of_%20_Stat3_%20_protein_%20_(GO:0042517)_%7C_protein_%20_complex_%20_assembly_%20_(GO:0006461)_%7C_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045595)_%7C_regulation_%20_of_%20_myelination_%20_(GO:0031641)_%7C_regulation_%20_of_%20_neurogenesis_%20_(GO:0050767)_%7C_S-shaped_%20_body_%20_morphogenesis_%20_(GO:0072050)_%7C_smoothened_%20_signaling_%20_pathway_%20_(GO:0007224)_%7C_specification_%20_of_%20_loop_%20_of_%20_Henle_%20_identity_%20_(GO:0072086)_%7C_telencephalon_%20_development_%20_(GO:0021537)|nucleoplasm_%20_(GO:0005654)|chromatin_%20_binding_%20_(GO:0003682)_%7C_double-stranded_%20_DNA_%20_binding_%20_(GO:0003690)_%7C_RNA_%20_polymerase_%20_II_%20_core_%20_promoter_%20_proximal_%20_region_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_involved_%20_in_%20_negative_%20_regulation_%20_of_%20_transcription_%20_(GO:0001078)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2493130 exm2251018 G A . PASS FUNCOTATION=[TNFRSF14|hg19|chr1|2493130|2493130|SILENT||SNP|G|G|A|g.chr1:2493130G>A|ENST00000355716.4|+|6|869|c.570G>A|c.(568-570)acG>acA|p.T190T|0.6234413965087282|GGCTGGTGACGAAGGCCGGAG|TNFRSF14_ENST00000409119.1_THREE_PRIME_UTR/RP3-395M20.8_ENST00000416860.2_FIVE_PRIME_FLANK/RP3-395M20.8_ENST00000452793.1_FIVE_PRIME_FLANK/RP3-395M20.7_ENST00000456687.3_FIVE_PRIME_FLANK||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_14_%20_(herpesvirus_%20_entry_%20_mediator)"|8764|1|1p36.32|yes||follicular_%20_lymphoma|||L|Rec|"Mis_%2C__%20_N_%2C__%20_F"||||||||||||1645|NS(200)_%7C_biliary_tract(2)_%7C_bone(27)_%7C_breast(31)_%7C_central_nervous_system(61)_%7C_haematopoietic_and_lymphoid_tissue(659)_%7C_kidney(209)_%7C_large_intestine(11)_%7C_lung(84)_%7C_ovary(14)_%7C_pancreas(51)_%7C_salivary_gland(15)_%7C_soft_tissue(30)_%7C_stomach(121)_%7C_thymus(10)_%7C_upper_aerodigestive_tract(120)|||||||U81232|NM_003820.2|NP_003811.2|HGNC:11912|TNF_%20_receptor_%20_superfamily_%20_member_%20_14|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_14_%20_(herpesvirus_%20_entry_%20_mediator)"_%2C__%20_"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_14"|HVEM_%2C__%20_ATAR_%2C__%20_TR2_%2C__%20_LIGHTR_%2C__%20_HVEA_%2C__%20_CD270|"herpesvirus_%20_entry_%20_mediator"|1p36.32|2016-06-28||2016-06-28|U70321||8764|ENSG00000157873|8898196_%2C__%20_9162061||471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS44046|OTTHUMG00000000792|8764|602746|NM_001297605|Q92956|ENSG00000157873|uc001ajr.4|TNR14_HUMAN||B3KW30_%7C_B9DI89_%7C_Q6IB95_%7C_Q8N634_%7C_Q8WXR1_%7C_Q96J31_%7C_Q9UM65|Q92956|cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007166)_%7C_defense_%20_response_%20_to_%20_Gram-negative_%20_bacterium_%20_(GO:0050829)_%7C_defense_%20_response_%20_to_%20_Gram-positive_%20_bacterium_%20_(GO:0050830)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_negative_%20_regulation_%20_of_%20_alpha-beta_%20_T_%20_cell_%20_proliferation_%20_(GO:0046642)_%7C_positive_%20_regulation_%20_of_%20_cytokine_%20_secretion_%20_involved_%20_in_%20_immune_%20_response_%20_(GO:0002741)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050731)_%7C_positive_%20_regulation_%20_of_%20_T_%20_cell_%20_migration_%20_(GO:2000406)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)_%7C_viral_%20_process_%20_(GO:0016032)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_plasma_%20_membrane_%20_(GO:0005886)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_virus_%20_receptor_%20_activity_%20_(GO:0001618)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2513216 exm-rs734999 C T . PASS FUNCOTATION=[FAM213B|hg19|chr1|2513216|2513216|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:2513216C>T|ENST00000419916.2|+||||||0.48877805486284287|AAGAAAAGCACAACAGAGAAC|RP3-395M20.9_ENST00000424215.1_RNA|||||||||||||||||||||||||||||||||CH471183|NM_152371.3|NP_689584.2|HGNC:28390|family_%20_with_%20_sequence_%20_similarity_%20_213_%20_member_%20_B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf93|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_93"_%2C__%20_"family_%20_with_%20_sequence_%20_similarity_%20_213_%2C__%20_member_%20_B"|MGC26818|"prostamide/prostaglandin_%20_F_%20_synthase"_%2C__%20_"thioredoxin-type_%20_PGF_%20_synthase"|1p36.32|2017-08-18|2011-11-24|2015-11-18|AK075273|1.11.1.20|127281|ENSG00000157870|18006499_%2C__%20_20950588|NM_152371|||CCDS44_%2C__%20_CCDS55564_%2C__%20_CCDS72690_%2C__%20_CCDS72691|OTTHUMG00000000847|127281||NM_001195736|Q8TBF2|ENSG00000157870|uc001aju.4|PGFS_HUMAN||A8K793_%7C_B3KPY3_%7C_B4DQR9_%7C_B4E0S5_%7C_B7ZAC8_%7C_B9DI90_%7C_B9DI92_%7C_J3KQD0_%7C_Q8N2H0|Q8TBF2|arachidonic_%20_acid_%20_metabolic_%20_process_%20_(GO:0019369)_%7C_cyclooxygenase_%20_pathway_%20_(GO:0019371)_%7C_prostaglandin_%20_biosynthetic_%20_process_%20_(GO:0001516)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_myelin_%20_sheath_%20_(GO:0043209)|oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_the_%20_CH-OH_%20_group_%20_of_%20_donors_%2C__%20_NAD_%20_or_%20_NADP_%20_as_%20_acceptor_%20_(GO:0016616)_%7C_prostaglandin-F_%20_synthase_%20_activity_%20_(GO:0047017)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2519989 exm6175 G T . PASS FUNCOTATION=[FAM213B|hg19|chr1|2519989|2519989|SPLICE_SITE|MISSENSE|SNP|G|G|T|g.chr1:2519989G>T|ENST00000378424.4|+|5|545|c.529G>T|c.(529-531)Gcc>Tcc|p.A177S|0.6359102244389028|CTCCTGACAGGCCAAGGCTGT|FAM213B_ENST00000419916.2_SPLICE_SITE_p.A159S/FAM213B_ENST00000378425.5_SPLICE_SITE_p.A129S/FAM213B_ENST00000444521.2_SPLICE_SITE_p.A147S/FAM213B_ENST00000537325.1_INTRON/FAM213B_ENST00000484099.1_INTRON|||||||||||||||||||||||||||||||||AL139246|||HGNC:28390|family_%20_with_%20_sequence_%20_similarity_%20_213_%20_member_%20_B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf93|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_93"_%2C__%20_"family_%20_with_%20_sequence_%20_similarity_%20_213_%2C__%20_member_%20_B"|MGC26818|"prostamide/prostaglandin_%20_F_%20_synthase"_%2C__%20_"thioredoxin-type_%20_PGF_%20_synthase"|1p36.32|2017-08-18|2011-11-24|2015-11-18|AK075273|1.11.1.20|127281|ENSG00000157870|18006499_%2C__%20_20950588|NM_152371|||CCDS44_%2C__%20_CCDS55564_%2C__%20_CCDS72690_%2C__%20_CCDS72691|OTTHUMG00000000847|127281||NM_001195736|Q8TBF2|ENSG00000157870|uc001aju.4|PGFS_HUMAN||A8K793_%7C_B3KPY3_%7C_B4DQR9_%7C_B4E0S5_%7C_B7ZAC8_%7C_B9DI90_%7C_B9DI92_%7C_J3KQD0_%7C_Q8N2H0|Q8TBF2|arachidonic_%20_acid_%20_metabolic_%20_process_%20_(GO:0019369)_%7C_cyclooxygenase_%20_pathway_%20_(GO:0019371)_%7C_prostaglandin_%20_biosynthetic_%20_process_%20_(GO:0001516)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_myelin_%20_sheath_%20_(GO:0043209)|oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_the_%20_CH-OH_%20_group_%20_of_%20_donors_%2C__%20_NAD_%20_or_%20_NADP_%20_as_%20_acceptor_%20_(GO:0016616)_%7C_prostaglandin-F_%20_synthase_%20_activity_%20_(GO:0047017)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 2526245 exm6253 T A . PASS FUNCOTATION=[MMEL1|hg19|chr1|2526245|2526245|NONSENSE||SNP|T|T|A|g.chr1:2526245T>A|ENST00000378412.3|-|17|1834|c.1672A>T|c.(1672-1674)Aag>Tag|p.K558*|0.6483790523690773|GGGTCCACCTTTTCCCGAAGC|MMEL1_ENST00000502556.1_NONSENSE_p.K401*/MMEL1_ENST00000288709.6_NONSENSE_p.K549*|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|||HGNC:14668|membrane_%20_metalloendopeptidase_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MMEL2|"membrane_%20_metallo-endopeptidase-like_%20_2"|SEP_%2C__%20_NL1_%2C__%20_NL2_%2C__%20_NEPII||1p36.32|2016-10-05||2016-08-10|AF336981||79258|ENSG00000142606||NM_033467|1439|M13_%20_metallopeptidases|CCDS30569|OTTHUMG00000000846|79258||NM_033467|Q495T6|ENSG00000142606|uc001ajy.3|MMEL1_HUMAN||B9DI79_%7C_Q495T7_%7C_Q495T8_%7C_Q5SZS6_%7C_Q96PH9|Q495T6||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false||false|false|||false|false|false|MMEL1:79258|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|200758088|2526245|false|true|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050200000605040402000100|1|false|137|rs200758088|] +1 2530219 variant.359 C T . PASS FUNCOTATION=[MMEL1|hg19|chr1|2530219|2530219|NONSENSE||SNP|C|C|T|g.chr1:2530219C>T|ENST00000378412.3|-|12|1214|c.1052G>A|c.(1051-1053)tGg>tAg|p.W351*|0.49875311720698257|GAACAGAGTCCAGTTAAATCC|MMEL1_ENST00000502556.1_NONSENSE_p.W194*/MMEL1_ENST00000288709.6_NONSENSE_p.W342*|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|||HGNC:14668|membrane_%20_metalloendopeptidase_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MMEL2|"membrane_%20_metallo-endopeptidase-like_%20_2"|SEP_%2C__%20_NL1_%2C__%20_NL2_%2C__%20_NEPII||1p36.32|2016-10-05||2016-08-10|AF336981||79258|ENSG00000142606||NM_033467|1439|M13_%20_metallopeptidases|CCDS30569|OTTHUMG00000000846|79258||NM_033467|Q495T6|ENSG00000142606|uc001ajy.3|MMEL1_HUMAN||B9DI79_%7C_Q495T7_%7C_Q495T8_%7C_Q5SZS6_%7C_Q96PH9|Q495T6||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false||false|false|||false|false|false|MMEL1:79258|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|768914853|2530219|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000605000402000100|1|false|144|rs768914853|] +1 2541269 exm6351 A G . PASS FUNCOTATION=[MMEL1|hg19|chr1|2541269|2541269|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:2541269A>G|ENST00000378412.3|-|5|456|c.294T>C|c.(292-294)gcT>gcC|p.A98A|0.6184538653366584|GGATCCTGGCAGCTGCTCGTC|MMEL1_ENST00000502556.1_SPLICE_SITE_p.A98A/MMEL1_ENST00000288709.6_SPLICE_SITE_p.A89A|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|||HGNC:14668|membrane_%20_metalloendopeptidase_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MMEL2|"membrane_%20_metallo-endopeptidase-like_%20_2"|SEP_%2C__%20_NL1_%2C__%20_NL2_%2C__%20_NEPII||1p36.32|2016-10-05||2016-08-10|AF336981||79258|ENSG00000142606||NM_033467|1439|M13_%20_metallopeptidases|CCDS30569|OTTHUMG00000000846|79258||NM_033467|Q495T6|ENSG00000142606|uc001ajy.3|MMEL1_HUMAN||B9DI79_%7C_Q495T7_%7C_Q495T8_%7C_Q5SZS6_%7C_Q96PH9|Q495T6||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.4685_%2C_0.5315|false|false|1||false|true|true|MMEL1:79258|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|10797440|2541269|false|true|0|true|0|true|0.525414_%2C_0.474586|false|false|false|SNV|true|0x05030000030517053f000100|1|false|120|rs10797440|] +1 2541269 exm6351 A G . PASS FUNCOTATION=[MMEL1|hg19|chr1|2541269|2541269|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:2541269A>G|ENST00000378412.3|-|5|456|c.294T>C|c.(292-294)gcT>gcC|p.A98A|0.6184538653366584|GGATCCTGGCAGCTGCTCGTC|MMEL1_ENST00000502556.1_SPLICE_SITE_p.A98A/MMEL1_ENST00000288709.6_SPLICE_SITE_p.A89A|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|||HGNC:14668|membrane_%20_metalloendopeptidase_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MMEL2|"membrane_%20_metallo-endopeptidase-like_%20_2"|SEP_%2C__%20_NL1_%2C__%20_NL2_%2C__%20_NEPII||1p36.32|2016-10-05||2016-08-10|AF336981||79258|ENSG00000142606||NM_033467|1439|M13_%20_metallopeptidases|CCDS30569|OTTHUMG00000000846|79258||NM_033467|Q495T6|ENSG00000142606|uc001ajy.3|MMEL1_HUMAN||B9DI79_%7C_Q495T7_%7C_Q495T8_%7C_Q5SZS6_%7C_Q96PH9|Q495T6||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.4685_%2C_0.5315|false|false|1||false|true|true|MMEL1:79258|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|10797440|2541269|false|true|0|true|0|true|0.525414_%2C_0.474586|false|false|false|SNV|true|0x05030000030517053f000100|1|false|120|rs10797440|] +1 2542778 exm6352 C T . PASS FUNCOTATION=[MMEL1|hg19|chr1|2542778|2542778|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:2542778C>T|ENST00000378412.3|-|4|396|c.234G>A|c.(232-234)ggG>ggA|p.G78G|0.683291770573566|CCTCTGGGATCCCTGCGGGCA|MMEL1_ENST00000502556.1_SPLICE_SITE_p.G78G/MMEL1_ENST00000288709.6_SPLICE_SITE_p.G69G|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|||HGNC:14668|membrane_%20_metalloendopeptidase_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MMEL2|"membrane_%20_metallo-endopeptidase-like_%20_2"|SEP_%2C__%20_NL1_%2C__%20_NL2_%2C__%20_NEPII||1p36.32|2016-10-05||2016-08-10|AF336981||79258|ENSG00000142606||NM_033467|1439|M13_%20_metallopeptidases|CCDS30569|OTTHUMG00000000846|79258||NM_033467|Q495T6|ENSG00000142606|uc001ajy.3|MMEL1_HUMAN||B9DI79_%7C_Q495T7_%7C_Q495T8_%7C_Q5SZS6_%7C_Q96PH9|Q495T6||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false||false|false|||false|false|false|MMEL1:79258|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201188524|2542778|false|false|0|false|0|true|0.999931_%2C_6.8686e-005|false|false|false|SNV|false|0x050000000305000402000100|1|false|137|rs201188524|] +1 2542778 exm6352 C T . PASS FUNCOTATION=[MMEL1|hg19|chr1|2542778|2542778|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:2542778C>T|ENST00000378412.3|-|4|396|c.234G>A|c.(232-234)ggG>ggA|p.G78G|0.683291770573566|CCTCTGGGATCCCTGCGGGCA|MMEL1_ENST00000502556.1_SPLICE_SITE_p.G78G/MMEL1_ENST00000288709.6_SPLICE_SITE_p.G69G|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|||HGNC:14668|membrane_%20_metalloendopeptidase_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MMEL2|"membrane_%20_metallo-endopeptidase-like_%20_2"|SEP_%2C__%20_NL1_%2C__%20_NL2_%2C__%20_NEPII||1p36.32|2016-10-05||2016-08-10|AF336981||79258|ENSG00000142606||NM_033467|1439|M13_%20_metallopeptidases|CCDS30569|OTTHUMG00000000846|79258||NM_033467|Q495T6|ENSG00000142606|uc001ajy.3|MMEL1_HUMAN||B9DI79_%7C_Q495T7_%7C_Q495T8_%7C_Q5SZS6_%7C_Q96PH9|Q495T6||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false||false|false|||false|false|false|MMEL1:79258|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201188524|2542778|false|false|0|false|0|true|0.999931_%2C_6.8686e-005|false|false|false|SNV|false|0x050000000305000402000100|1|false|137|rs201188524|] +1 2564465 kgp10938344 T C . PASS FUNCOTATION=[MMEL1|hg19|chr1|2564465|2564465|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:2564465T>C|ENST00000288709.6|-|1|||||0.6458852867830424|TGAAGGCTTCTGGGCCTCCTT|MMEL1_ENST00000378412.3_FIVE_PRIME_FLANK/MMEL1_ENST00000502556.1_FIVE_PRIME_FLANK/RP13-436F16.1_ENST00000427302.1_RNA/MMEL1_ENST00000511099.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_033467.3|NP_258428.2|HGNC:14668|membrane_%20_metalloendopeptidase_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MMEL2|"membrane_%20_metallo-endopeptidase-like_%20_2"|SEP_%2C__%20_NL1_%2C__%20_NL2_%2C__%20_NEPII||1p36.32|2016-10-05||2016-08-10|AF336981||79258|ENSG00000142606||NM_033467|1439|M13_%20_metallopeptidases|CCDS30569|OTTHUMG00000000846|79258||NM_033467|Q495T6|ENSG00000142606|uc001ajy.3|MMEL1_HUMAN||B9DI79_%7C_Q495T7_%7C_Q495T8_%7C_Q5SZS6_%7C_Q96PH9|Q495T6||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.4824_%2C_0.5176|false|false|1||false|true|true|MMEL1:79258|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|12752515|2564465|false|false|0|true|0|false|0.403943_%2C_0.596057|false|false|true|SNV|true|0x050100400a0517053e000100|1|false|121|rs12752515|] +1 2938265 rs4576609 C T . PASS FUNCOTATION=[ACTRT2|hg19|chr1|2938265|2938265|SILENT||SNP|C|C|T|g.chr1:2938265C>T|ENST00000378404.2|+|1|220|c.15C>T|c.(13-15)caC>caT|p.H5H|0.6059850374064838|TTAATCCGCACGCTTTAGACT||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471248|NM_080431.4|NP_536356.3|HGNC:24026|actin_%20_related_%20_protein_%20_T2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Arp-T2_%2C__%20_ARPM2_%2C__%20_FLJ25424||1p36.32|2016-10-05||2015-12-01|AF440740_%2C__%20_AB057364||140625|ENSG00000169717|11750065_%2C__%20_12243744|NM_080431|1436|Actin_%20_related_%20_proteins|CCDS45|OTTHUMG00000000562|140625|608535|NM_080431|Q8TDY3|ENSG00000169717|uc001ajz.4|ACTT2_HUMAN||B1AN52_%7C_Q8NHS6_%7C_Q8TDG1|Q8TDY3||cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)|||||true|false|0.7983_%2C_._%2C_0.2017|false|false|1||false|true|true|ACTRT2:140625|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|4576609|2938265|false|false|0|true|0|true|0.836974_%2C_3.4343e-005_%2C_0.162992|false|false|false|SNV|true|0x05010000030517053e000100|1|false|111|rs4576609|] +1 2939409 rs12564513 G T . PASS FUNCOTATION=[ACTRT2|hg19|chr1|2939409|2939409|THREE_PRIME_UTR||SNP|G|G|T|g.chr1:2939409G>T|ENST00000378404.2|+|1|||||0.5935162094763092|TGGGTACCGTGGGGGGTGAAC||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471248|NM_080431.4|NP_536356.3|HGNC:24026|actin_%20_related_%20_protein_%20_T2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Arp-T2_%2C__%20_ARPM2_%2C__%20_FLJ25424||1p36.32|2016-10-05||2015-12-01|AF440740_%2C__%20_AB057364||140625|ENSG00000169717|11750065_%2C__%20_12243744|NM_080431|1436|Actin_%20_related_%20_proteins|CCDS45|OTTHUMG00000000562|140625|608535|NM_080431|Q8TDY3|ENSG00000169717|uc001ajz.4|ACTT2_HUMAN||B1AN52_%7C_Q8NHS6_%7C_Q8TDG1|Q8TDY3||cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)|||||true|false|0.9215_%2C_0.0003994_%2C_._%2C_0.07808|false|false|1||false|true|false|ACTRT2:140625|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|12564513|2939409|false|false|0|true|0|false|0.964764_%2C_._%2C_3.4343e-005_%2C_0.0352016|false|true|false|SNV|true|0x050100800005150537000100|1|false|120|rs12564513|] +1 2983674 psy_rs75412307 T G . PASS FUNCOTATION=[PRDM16|hg19|chr1|2983674|2983674|FIVE_PRIME_FLANK||SNP|T|T|G|g.chr1:2983674T>G|ENST00000270722.5|+||||||0.6184538653366584|GGCGAGCAGGTTCAGAACCGG|PRDM16_ENST00000378391.2_FIVE_PRIME_FLANK/PRDM16_ENST00000378398.3_FIVE_PRIME_FLANK/PRDM16_ENST00000441472.2_FIVE_PRIME_FLANK/PRDM16_ENST00000442529.2_FIVE_PRIME_FLANK/PRDM16_ENST00000511072.1_FIVE_PRIME_FLANK/PRDM16_ENST00000514189.1_FIVE_PRIME_FLANK/LINC00982_ENST00000445317.1_RNA/LINC00982_ENST00000321336.1_RNA/LINC00982_ENST00000321399.3_FIVE_PRIME_FLANK/LINC00982_ENST00000415573.1_FIVE_PRIME_FLANK/LINC00982_ENST00000606861.1_FIVE_PRIME_FLANK||PR_%20_domain_%20_containing_%20_16|63976|1|1p36.23-p33|yes||"MDS_%2C__%20_AML"|||L|Dom|T|EVI1|||||||||||792|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_kidney(180)_%7C_large_intestine(70)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(1)_%7C_upper_aerodigestive_tract(28)|||||||BC161614|||HGNC:14000|PR/SET_%20_domain_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_16"_%2C__%20_"PR_%20_domain_%20_16"|MEL1_%2C__%20_PFM13_%2C__%20_KIAA1675_%2C__%20_MGC166915_%2C__%20_KMT8F|"MDS1/EVI1-like"_%2C__%20_"PR-domain_%20_zinc_%20_finger_%20_protein_%20_16"_%2C__%20_"transcription_%20_factor_%20_MEL1"|1p36.32|2016-11-03||2016-07-18|AF294278||63976|ENSG00000142611|11050005_%2C__%20_27151440|NM_022114|487_%7C_1197_%7C_28|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS41236_%2C__%20_CCDS44048|OTTHUMG00000000581|63976|605557|NM_022114|Q9HAZ2|ENSG00000142611|uc001akf.4|PRD16_HUMAN||A6NHQ8_%7C_B1AJP7_%7C_B1AJP8_%7C_B1AJP9_%7C_B1WB48_%7C_Q8WYJ9_%7C_Q9C0I8|Q9HAZ2|brown_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050873)_%7C_negative_%20_regulation_%20_of_%20_granulocyte_%20_differentiation_%20_(GO:0030853)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neurogenesis_%20_(GO:0022008)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_regulation_%20_of_%20_cellular_%20_respiration_%20_(GO:0043457)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_tongue_%20_development_%20_(GO:0043586)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_white_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050872)|nucleus_%20_(GO:0005634)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3301715 chr1_3301715 G C . PASS FUNCOTATION=[PRDM16|hg19|chr1|3301715|3301715|SPLICE_SITE|INTRON|SNP|G|G|C|g.chr1:3301715G>C|ENST00000270722.5|+|||c.e4-1G>C|c.e4-1||0.6159600997506235|CCTCCCAGCAGATCTCCGAAG|PRDM16_ENST00000511072.1_MISSENSE_p.Q147H/PRDM16_ENST00000514189.1_MISSENSE_p.Q147H/PRDM16_ENST00000378391.2_SPLICE_SITE/PRDM16_ENST00000441472.2_SPLICE_SITE/PRDM16_ENST00000442529.2_SPLICE_SITE/PRDM16_ENST00000378398.3_SPLICE_SITE/PRDM16_ENST00000512462.1_SPLICE_SITE||PR_%20_domain_%20_containing_%20_16|63976|1|1p36.23-p33|yes||"MDS_%2C__%20_AML"|||L|Dom|T|EVI1|||||||||||792|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_kidney(180)_%7C_large_intestine(70)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(1)_%7C_upper_aerodigestive_tract(28)|||||||BC161614|||HGNC:14000|PR/SET_%20_domain_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_16"_%2C__%20_"PR_%20_domain_%20_16"|MEL1_%2C__%20_PFM13_%2C__%20_KIAA1675_%2C__%20_MGC166915_%2C__%20_KMT8F|"MDS1/EVI1-like"_%2C__%20_"PR-domain_%20_zinc_%20_finger_%20_protein_%20_16"_%2C__%20_"transcription_%20_factor_%20_MEL1"|1p36.32|2016-11-03||2016-07-18|AF294278||63976|ENSG00000142611|11050005_%2C__%20_27151440|NM_022114|487_%7C_1197_%7C_28|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS41236_%2C__%20_CCDS44048|OTTHUMG00000000581|63976|605557|NM_022114|Q9HAZ2|ENSG00000142611|uc001akf.4|PRD16_HUMAN||A6NHQ8_%7C_B1AJP7_%7C_B1AJP8_%7C_B1AJP9_%7C_B1WB48_%7C_Q8WYJ9_%7C_Q9C0I8|Q9HAZ2|brown_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050873)_%7C_negative_%20_regulation_%20_of_%20_granulocyte_%20_differentiation_%20_(GO:0030853)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neurogenesis_%20_(GO:0022008)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_regulation_%20_of_%20_cellular_%20_respiration_%20_(GO:0043457)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_tongue_%20_development_%20_(GO:0043586)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_white_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050872)|nucleus_%20_(GO:0005634)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3327949 exm6524 T C . PASS FUNCOTATION=[PRDM16|hg19|chr1|3327949|3327949|SPLICE_SITE|SILENT|SNP|T|T|C|g.chr1:3327949T>C|ENST00000270722.5|+|9|1237|c.1188T>C|c.(1186-1188)tgT>tgC|p.C396C|0.5785536159600998|ATGTTTTAGGTGAGGTCTGCC|PRDM16_ENST00000378391.2_SPLICE_SITE_p.C396C/PRDM16_ENST00000511072.1_SPLICE_SITE_p.C397C/PRDM16_ENST00000514189.1_SPLICE_SITE_p.C397C/PRDM16_ENST00000441472.2_SPLICE_SITE_p.C396C/PRDM16_ENST00000442529.2_SPLICE_SITE_p.C396C/PRDM16_ENST00000378398.3_SPLICE_SITE_p.C397C/PRDM16_ENST00000512462.1_SPLICE_SITE||PR_%20_domain_%20_containing_%20_16|63976|1|1p36.23-p33|yes||"MDS_%2C__%20_AML"|||L|Dom|T|EVI1|||||||||||792|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_kidney(180)_%7C_large_intestine(70)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(1)_%7C_upper_aerodigestive_tract(28)|||||||BC161614|||HGNC:14000|PR/SET_%20_domain_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_16"_%2C__%20_"PR_%20_domain_%20_16"|MEL1_%2C__%20_PFM13_%2C__%20_KIAA1675_%2C__%20_MGC166915_%2C__%20_KMT8F|"MDS1/EVI1-like"_%2C__%20_"PR-domain_%20_zinc_%20_finger_%20_protein_%20_16"_%2C__%20_"transcription_%20_factor_%20_MEL1"|1p36.32|2016-11-03||2016-07-18|AF294278||63976|ENSG00000142611|11050005_%2C__%20_27151440|NM_022114|487_%7C_1197_%7C_28|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS41236_%2C__%20_CCDS44048|OTTHUMG00000000581|63976|605557|NM_022114|Q9HAZ2|ENSG00000142611|uc001akf.4|PRD16_HUMAN||A6NHQ8_%7C_B1AJP7_%7C_B1AJP8_%7C_B1AJP9_%7C_B1WB48_%7C_Q8WYJ9_%7C_Q9C0I8|Q9HAZ2|brown_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050873)_%7C_negative_%20_regulation_%20_of_%20_granulocyte_%20_differentiation_%20_(GO:0030853)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neurogenesis_%20_(GO:0022008)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_regulation_%20_of_%20_cellular_%20_respiration_%20_(GO:0043457)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_tongue_%20_development_%20_(GO:0043586)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_white_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050872)|nucleus_%20_(GO:0005634)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3327949 exm6524 T C . PASS FUNCOTATION=[PRDM16|hg19|chr1|3327949|3327949|SPLICE_SITE|SILENT|SNP|T|T|C|g.chr1:3327949T>C|ENST00000270722.5|+|9|1237|c.1188T>C|c.(1186-1188)tgT>tgC|p.C396C|0.5785536159600998|ATGTTTTAGGTGAGGTCTGCC|PRDM16_ENST00000378391.2_SPLICE_SITE_p.C396C/PRDM16_ENST00000511072.1_SPLICE_SITE_p.C397C/PRDM16_ENST00000514189.1_SPLICE_SITE_p.C397C/PRDM16_ENST00000441472.2_SPLICE_SITE_p.C396C/PRDM16_ENST00000442529.2_SPLICE_SITE_p.C396C/PRDM16_ENST00000378398.3_SPLICE_SITE_p.C397C/PRDM16_ENST00000512462.1_SPLICE_SITE||PR_%20_domain_%20_containing_%20_16|63976|1|1p36.23-p33|yes||"MDS_%2C__%20_AML"|||L|Dom|T|EVI1|||||||||||792|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_kidney(180)_%7C_large_intestine(70)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(1)_%7C_upper_aerodigestive_tract(28)|||||||BC161614|||HGNC:14000|PR/SET_%20_domain_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_16"_%2C__%20_"PR_%20_domain_%20_16"|MEL1_%2C__%20_PFM13_%2C__%20_KIAA1675_%2C__%20_MGC166915_%2C__%20_KMT8F|"MDS1/EVI1-like"_%2C__%20_"PR-domain_%20_zinc_%20_finger_%20_protein_%20_16"_%2C__%20_"transcription_%20_factor_%20_MEL1"|1p36.32|2016-11-03||2016-07-18|AF294278||63976|ENSG00000142611|11050005_%2C__%20_27151440|NM_022114|487_%7C_1197_%7C_28|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS41236_%2C__%20_CCDS44048|OTTHUMG00000000581|63976|605557|NM_022114|Q9HAZ2|ENSG00000142611|uc001akf.4|PRD16_HUMAN||A6NHQ8_%7C_B1AJP7_%7C_B1AJP8_%7C_B1AJP9_%7C_B1WB48_%7C_Q8WYJ9_%7C_Q9C0I8|Q9HAZ2|brown_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050873)_%7C_negative_%20_regulation_%20_of_%20_granulocyte_%20_differentiation_%20_(GO:0030853)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neurogenesis_%20_(GO:0022008)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_regulation_%20_of_%20_cellular_%20_respiration_%20_(GO:0043457)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_tongue_%20_development_%20_(GO:0043586)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_white_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050872)|nucleus_%20_(GO:0005634)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3331193 exm2251405 G A . PASS FUNCOTATION=[PRDM16|hg19|chr1|3331193|3331193|SILENT||SNP|G|G|A|g.chr1:3331193G>A|ENST00000270722.5|+|10|2722|c.2673G>A|c.(2671-2673)ccG>ccA|p.P891P|0.6608478802992519|GGCCGTCCCCGCTGCTCTTCC|PRDM16_ENST00000378391.2_SILENT_p.P891P/PRDM16_ENST00000511072.1_SILENT_p.P892P/PRDM16_ENST00000514189.1_SILENT_p.P891P/PRDM16_ENST00000441472.2_SILENT_p.P890P/PRDM16_ENST00000442529.2_SILENT_p.P890P/PRDM16_ENST00000378398.3_SILENT_p.P891P/PRDM16_ENST00000512462.1_INTRON||PR_%20_domain_%20_containing_%20_16|63976|1|1p36.23-p33|yes||"MDS_%2C__%20_AML"|||L|Dom|T|EVI1|||||||||||792|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_kidney(180)_%7C_large_intestine(70)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(1)_%7C_upper_aerodigestive_tract(28)|||||||BC161614|||HGNC:14000|PR/SET_%20_domain_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_16"_%2C__%20_"PR_%20_domain_%20_16"|MEL1_%2C__%20_PFM13_%2C__%20_KIAA1675_%2C__%20_MGC166915_%2C__%20_KMT8F|"MDS1/EVI1-like"_%2C__%20_"PR-domain_%20_zinc_%20_finger_%20_protein_%20_16"_%2C__%20_"transcription_%20_factor_%20_MEL1"|1p36.32|2016-11-03||2016-07-18|AF294278||63976|ENSG00000142611|11050005_%2C__%20_27151440|NM_022114|487_%7C_1197_%7C_28|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS41236_%2C__%20_CCDS44048|OTTHUMG00000000581|63976|605557|NM_022114|Q9HAZ2|ENSG00000142611|uc001akf.4|PRD16_HUMAN||A6NHQ8_%7C_B1AJP7_%7C_B1AJP8_%7C_B1AJP9_%7C_B1WB48_%7C_Q8WYJ9_%7C_Q9C0I8|Q9HAZ2|brown_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050873)_%7C_negative_%20_regulation_%20_of_%20_granulocyte_%20_differentiation_%20_(GO:0030853)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neurogenesis_%20_(GO:0022008)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_regulation_%20_of_%20_cellular_%20_respiration_%20_(GO:0043457)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_tongue_%20_development_%20_(GO:0043586)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_white_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050872)|nucleus_%20_(GO:0005634)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3342788 exm6674 C T . PASS FUNCOTATION=[PRDM16|hg19|chr1|3342788|3342788|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:3342788C>T|ENST00000270722.5|+|14|3332|c.3283C>T|c.(3283-3285)Cgg>Tgg|p.R1095W|0.5985037406483791|AACAGAGAAACGGTAAGAAAA|PRDM16_ENST00000378391.2_SPLICE_SITE_p.R1095W/PRDM16_ENST00000511072.1_SPLICE_SITE_p.R1096W/PRDM16_ENST00000514189.1_SPLICE_SITE_p.R1095W/PRDM16_ENST00000441472.2_SPLICE_SITE_p.R1094W/PRDM16_ENST00000442529.2_SPLICE_SITE_p.R1094W/PRDM16_ENST00000378398.3_SPLICE_SITE_p.R1095W/PRDM16_ENST00000512462.1_SPLICE_SITE||PR_%20_domain_%20_containing_%20_16|63976|1|1p36.23-p33|yes||"MDS_%2C__%20_AML"|||L|Dom|T|EVI1|||||||||||792|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_kidney(180)_%7C_large_intestine(70)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(1)_%7C_upper_aerodigestive_tract(28)|||||||BC161614|||HGNC:14000|PR/SET_%20_domain_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_16"_%2C__%20_"PR_%20_domain_%20_16"|MEL1_%2C__%20_PFM13_%2C__%20_KIAA1675_%2C__%20_MGC166915_%2C__%20_KMT8F|"MDS1/EVI1-like"_%2C__%20_"PR-domain_%20_zinc_%20_finger_%20_protein_%20_16"_%2C__%20_"transcription_%20_factor_%20_MEL1"|1p36.32|2016-11-03||2016-07-18|AF294278||63976|ENSG00000142611|11050005_%2C__%20_27151440|NM_022114|487_%7C_1197_%7C_28|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS41236_%2C__%20_CCDS44048|OTTHUMG00000000581|63976|605557|NM_022114|Q9HAZ2|ENSG00000142611|uc001akf.4|PRD16_HUMAN||A6NHQ8_%7C_B1AJP7_%7C_B1AJP8_%7C_B1AJP9_%7C_B1WB48_%7C_Q8WYJ9_%7C_Q9C0I8|Q9HAZ2|brown_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050873)_%7C_negative_%20_regulation_%20_of_%20_granulocyte_%20_differentiation_%20_(GO:0030853)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neurogenesis_%20_(GO:0022008)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_regulation_%20_of_%20_cellular_%20_respiration_%20_(GO:0043457)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_tongue_%20_development_%20_(GO:0043586)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_white_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050872)|nucleus_%20_(GO:0005634)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3352227 rs1537406 T C . PASS FUNCOTATION=[PRDM16|hg19|chr1|3352227|3352227|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:3352227T>C|ENST00000270722.5|+|17|||||0.47880299251870323|TTGTGTCACGTGTGGACATCT|PRDM16_ENST00000441472.2_THREE_PRIME_UTR/PRDM16_ENST00000442529.2_THREE_PRIME_UTR/PRDM16_ENST00000378398.3_THREE_PRIME_UTR||PR_%20_domain_%20_containing_%20_16|63976|1|1p36.23-p33|yes||"MDS_%2C__%20_AML"|||L|Dom|T|EVI1|||||||||||792|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_kidney(180)_%7C_large_intestine(70)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(1)_%7C_upper_aerodigestive_tract(28)|||||||BC161614|||HGNC:14000|PR/SET_%20_domain_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_16"_%2C__%20_"PR_%20_domain_%20_16"|MEL1_%2C__%20_PFM13_%2C__%20_KIAA1675_%2C__%20_MGC166915_%2C__%20_KMT8F|"MDS1/EVI1-like"_%2C__%20_"PR-domain_%20_zinc_%20_finger_%20_protein_%20_16"_%2C__%20_"transcription_%20_factor_%20_MEL1"|1p36.32|2016-11-03||2016-07-18|AF294278||63976|ENSG00000142611|11050005_%2C__%20_27151440|NM_022114|487_%7C_1197_%7C_28|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS41236_%2C__%20_CCDS44048|OTTHUMG00000000581|63976|605557|NM_022114|Q9HAZ2|ENSG00000142611|uc001akf.4|PRD16_HUMAN||A6NHQ8_%7C_B1AJP7_%7C_B1AJP8_%7C_B1AJP9_%7C_B1WB48_%7C_Q8WYJ9_%7C_Q9C0I8|Q9HAZ2|brown_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050873)_%7C_negative_%20_regulation_%20_of_%20_granulocyte_%20_differentiation_%20_(GO:0030853)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_negative_%20_regulation_%20_of_%20_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030512)_%7C_neurogenesis_%20_(GO:0022008)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_regulation_%20_of_%20_cellular_%20_respiration_%20_(GO:0043457)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)_%7C_tongue_%20_development_%20_(GO:0043586)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_white_%20_fat_%20_cell_%20_differentiation_%20_(GO:0050872)|nucleus_%20_(GO:0005634)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3395176 exm6806 C T . PASS FUNCOTATION=[ARHGEF16|hg19|chr1|3395176|3395176|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:3395176C>T|ENST00000378378.4|+|12|2219|c.1814C>T|c.(1813-1815)gCg>gTg|p.A605V|0.6309226932668329|TCGGACTCCGCGTAAGTGGGC|ARHGEF16_ENST00000378371.2_SPLICE_SITE_p.A317V/ARHGEF16_ENST00000378373.1_SPLICE_SITE_p.A317V/ARHGEF16_ENST00000413250.2_SPLICE_SITE_p.A309V|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||D89016|NM_014448.3|NP_055263.2|HGNC:15515|Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factor_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factor_%20_(GEF)_%20_16"|NBR_%2C__%20_GEF16|"putative_%20_neuroblastoma_%20_protein"|1p36.32|2016-10-05||2015-11-09|D89016||27237|ENSG00000130762||NM_014448|722_%7C_682|Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factors_%7C_Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS46|OTTHUMG00000000625|27237||NM_014448|Q5VV41|ENSG00000130762|uc001akg.5|ARHGG_HUMAN||Q86TF0_%7C_Q99434|Q5VV41|activation_%20_of_%20_Cdc42_%20_GTPase_%20_activity_%20_(GO:0032864)_%7C_activation_%20_of_%20_Rac_%20_GTPase_%20_activity_%20_(GO:0032863)_%7C_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097190)_%7C_cell_%20_chemotaxis_%20_(GO:0060326)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_establishment_%20_of_%20_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0090004)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cytosol_%20_(GO:0005829)|PDZ_%20_domain_%20_binding_%20_(GO:0030165)_%7C_receptor_%20_tyrosine_%20_kinase_%20_binding_%20_(GO:0030971)_%7C_Rho_%20_GTPase_%20_binding_%20_(GO:0017048)_%7C_Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3396465 exm6818 C T . PASS FUNCOTATION=[ARHGEF16|hg19|chr1|3396465|3396465|NONSENSE||SNP|C|C|T|g.chr1:3396465C>T|ENST00000378378.4|+|14|2383|c.1978C>T|c.(1978-1980)Cag>Tag|p.Q660*|0.6458852867830424|CCTGGTTCTGCAGCAGGAGGA|ARHGEF16_ENST00000378371.2_NONSENSE_p.Q372*/ARHGEF16_ENST00000378373.1_NONSENSE_p.Q372*/ARHGEF16_ENST00000413250.2_NONSENSE_p.Q364*|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||D89016|NM_014448.3|NP_055263.2|HGNC:15515|Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factor_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factor_%20_(GEF)_%20_16"|NBR_%2C__%20_GEF16|"putative_%20_neuroblastoma_%20_protein"|1p36.32|2016-10-05||2015-11-09|D89016||27237|ENSG00000130762||NM_014448|722_%7C_682|Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factors_%7C_Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS46|OTTHUMG00000000625|27237||NM_014448|Q5VV41|ENSG00000130762|uc001akg.5|ARHGG_HUMAN||Q86TF0_%7C_Q99434|Q5VV41|activation_%20_of_%20_Cdc42_%20_GTPase_%20_activity_%20_(GO:0032864)_%7C_activation_%20_of_%20_Rac_%20_GTPase_%20_activity_%20_(GO:0032863)_%7C_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097190)_%7C_cell_%20_chemotaxis_%20_(GO:0060326)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_establishment_%20_of_%20_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0090004)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cytosol_%20_(GO:0005829)|PDZ_%20_domain_%20_binding_%20_(GO:0030165)_%7C_receptor_%20_tyrosine_%20_kinase_%20_binding_%20_(GO:0030971)_%7C_Rho_%20_GTPase_%20_binding_%20_(GO:0017048)_%7C_Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3410935 exm6858 G A . PASS FUNCOTATION=[MEGF6|hg19|chr1|3410935|3410935|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:3410935G>A|ENST00000356575.4|-|32|4356|c.4129C>T|c.(4129-4131)Ccc>Tcc|p.P1377S|0.6783042394014963|CCCAACTCACGGTGCTCGCAG|MEGF6_ENST00000294599.4_SPLICE_SITE_p.R1142W|Ovarian(73_%3B_978_%20_3658)||||||||||||||||||||||||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(11)|||||||AL513320|NM_001409.3|NP_001400.3|HGNC:3232|multiple_%20_EGF_%20_like_%20_domains_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EGFL3|"EGF-like-domain_%2C__%20_multiple_%20_3"_%2C__%20_"multiple_%20_EGF-like-domains_%20_6"|||1p36.32|2016-10-05|2006-03-31|2016-01-21|AB011539||1953|ENSG00000162591|9693030|NM_001409|||CCDS41237|OTTHUMG00000000611|1953|604266|NM_001409|O75095|ENSG00000162591|uc001akl.4|MEGF6_HUMAN||Q4AC86_%7C_Q5VV39|O75095||extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3410942 exm2251433 G A . PASS FUNCOTATION=[MEGF6|hg19|chr1|3410942|3410942|SILENT||SNP|G|G|A|g.chr1:3410942G>A|ENST00000356575.4|-|32|4349|c.4122C>T|c.(4120-4122)tgC>tgT|p.C1374C|0.683291770573566|CACGGTGCTCGCAGGCCTGGC|MEGF6_ENST00000294599.4_SILENT_p.C1139C|Ovarian(73_%3B_978_%20_3658)||||||||||||||||||||||||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(11)|||||||AL513320|NM_001409.3|NP_001400.3|HGNC:3232|multiple_%20_EGF_%20_like_%20_domains_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EGFL3|"EGF-like-domain_%2C__%20_multiple_%20_3"_%2C__%20_"multiple_%20_EGF-like-domains_%20_6"|||1p36.32|2016-10-05|2006-03-31|2016-01-21|AB011539||1953|ENSG00000162591|9693030|NM_001409|||CCDS41237|OTTHUMG00000000611|1953|604266|NM_001409|O75095|ENSG00000162591|uc001akl.4|MEGF6_HUMAN||Q4AC86_%7C_Q5VV39|O75095||extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3413684 exm1796486 C A . PASS FUNCOTATION=[MEGF6|hg19|chr1|3413684|3413684|SPLICE_SITE|INTRON|SNP|C|C|A|g.chr1:3413684C>A|ENST00000356575.4|-|||c.e28+1G>T|c.e28-1||0.7107231920199502|GGTGGGCAGGCTGGGTGGAGA|MEGF6_ENST00000294599.4_INTRON|Ovarian(73_%3B_978_%20_3658)||||||||||||||||||||||||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(11)|||||||AL513320|NM_001409.3|NP_001400.3|HGNC:3232|multiple_%20_EGF_%20_like_%20_domains_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EGFL3|"EGF-like-domain_%2C__%20_multiple_%20_3"_%2C__%20_"multiple_%20_EGF-like-domains_%20_6"|||1p36.32|2016-10-05|2006-03-31|2016-01-21|AB011539||1953|ENSG00000162591|9693030|NM_001409|||CCDS41237|OTTHUMG00000000611|1953|604266|NM_001409|O75095|ENSG00000162591|uc001akl.4|MEGF6_HUMAN||Q4AC86_%7C_Q5VV39|O75095||extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3415712 exm2251438 G A . PASS FUNCOTATION=[MEGF6|hg19|chr1|3415712|3415712|SILENT||SNP|G|G|A|g.chr1:3415712G>A|ENST00000356575.4|-|24|3311|c.3084C>T|c.(3082-3084)tcC>tcT|p.S1028S|0.6683291770573566|CCTGCAGGCAGGAGGGCCCCA|MEGF6_ENST00000294599.4_INTRON|Ovarian(73_%3B_978_%20_3658)||||||||||||||||||||||||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(11)|||||||AL513320|NM_001409.3|NP_001400.3|HGNC:3232|multiple_%20_EGF_%20_like_%20_domains_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EGFL3|"EGF-like-domain_%2C__%20_multiple_%20_3"_%2C__%20_"multiple_%20_EGF-like-domains_%20_6"|||1p36.32|2016-10-05|2006-03-31|2016-01-21|AB011539||1953|ENSG00000162591|9693030|NM_001409|||CCDS41237|OTTHUMG00000000611|1953|604266|NM_001409|O75095|ENSG00000162591|uc001akl.4|MEGF6_HUMAN||Q4AC86_%7C_Q5VV39|O75095||extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3417742 exm6965 G A . PASS FUNCOTATION=[MEGF6|hg19|chr1|3417742|3417742|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:3417742G>A|ENST00000356575.4|-|19|2672|c.2445C>T|c.(2443-2445)gaC>gaT|p.D815D|0.6583541147132169|CTCACTCACCGTCCTGGCAGC|MEGF6_ENST00000294599.4_SPLICE_SITE_p.D710D|Ovarian(73_%3B_978_%20_3658)||||||||||||||||||||||||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(11)|||||||AL513320|NM_001409.3|NP_001400.3|HGNC:3232|multiple_%20_EGF_%20_like_%20_domains_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EGFL3|"EGF-like-domain_%2C__%20_multiple_%20_3"_%2C__%20_"multiple_%20_EGF-like-domains_%20_6"|||1p36.32|2016-10-05|2006-03-31|2016-01-21|AB011539||1953|ENSG00000162591|9693030|NM_001409|||CCDS41237|OTTHUMG00000000611|1953|604266|NM_001409|O75095|ENSG00000162591|uc001akl.4|MEGF6_HUMAN||Q4AC86_%7C_Q5VV39|O75095||extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3417742 exm6965 G A . PASS FUNCOTATION=[MEGF6|hg19|chr1|3417742|3417742|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:3417742G>A|ENST00000356575.4|-|19|2672|c.2445C>T|c.(2443-2445)gaC>gaT|p.D815D|0.6583541147132169|CTCACTCACCGTCCTGGCAGC|MEGF6_ENST00000294599.4_SPLICE_SITE_p.D710D|Ovarian(73_%3B_978_%20_3658)||||||||||||||||||||||||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(11)|||||||AL513320|NM_001409.3|NP_001400.3|HGNC:3232|multiple_%20_EGF_%20_like_%20_domains_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EGFL3|"EGF-like-domain_%2C__%20_multiple_%20_3"_%2C__%20_"multiple_%20_EGF-like-domains_%20_6"|||1p36.32|2016-10-05|2006-03-31|2016-01-21|AB011539||1953|ENSG00000162591|9693030|NM_001409|||CCDS41237|OTTHUMG00000000611|1953|604266|NM_001409|O75095|ENSG00000162591|uc001akl.4|MEGF6_HUMAN||Q4AC86_%7C_Q5VV39|O75095||extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3417747 exm6966 G A . PASS FUNCOTATION=[MEGF6|hg19|chr1|3417747|3417747|NONSENSE||SNP|G|G|A|g.chr1:3417747G>A|ENST00000356575.4|-|19|2667|c.2440C>T|c.(2440-2442)Cag>Tag|p.Q814*|0.6633416458852868|TCACCGTCCTGGCAGCGGCTG|MEGF6_ENST00000294599.4_NONSENSE_p.Q709*|Ovarian(73_%3B_978_%20_3658)||||||||||||||||||||||||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(11)|||||||AL513320|NM_001409.3|NP_001400.3|HGNC:3232|multiple_%20_EGF_%20_like_%20_domains_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EGFL3|"EGF-like-domain_%2C__%20_multiple_%20_3"_%2C__%20_"multiple_%20_EGF-like-domains_%20_6"|||1p36.32|2016-10-05|2006-03-31|2016-01-21|AB011539||1953|ENSG00000162591|9693030|NM_001409|||CCDS41237|OTTHUMG00000000611|1953|604266|NM_001409|O75095|ENSG00000162591|uc001akl.4|MEGF6_HUMAN||Q4AC86_%7C_Q5VV39|O75095||extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3431235 exm7112 A C . PASS FUNCOTATION=[MEGF6|hg19|chr1|3431235|3431235|SPLICE_SITE|SILENT|SNP|A|A|C|g.chr1:3431235A>C|ENST00000356575.4|-|7|959|c.732T>G|c.(730-732)cgT>cgG|p.R244R|0.683291770573566|ACGGGCTTCTACCTGCAGCCA|MEGF6_ENST00000294599.4_SPLICE_SITE_p.R139R|Ovarian(73_%3B_978_%20_3658)||||||||||||||||||||||||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(11)|||||||AL513320|NM_001409.3|NP_001400.3|HGNC:3232|multiple_%20_EGF_%20_like_%20_domains_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EGFL3|"EGF-like-domain_%2C__%20_multiple_%20_3"_%2C__%20_"multiple_%20_EGF-like-domains_%20_6"|||1p36.32|2016-10-05|2006-03-31|2016-01-21|AB011539||1953|ENSG00000162591|9693030|NM_001409|||CCDS41237|OTTHUMG00000000611|1953|604266|NM_001409|O75095|ENSG00000162591|uc001akl.4|MEGF6_HUMAN||Q4AC86_%7C_Q5VV39|O75095||extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3431235 exm7112 A C . PASS FUNCOTATION=[MEGF6|hg19|chr1|3431235|3431235|SPLICE_SITE|SILENT|SNP|A|A|C|g.chr1:3431235A>C|ENST00000356575.4|-|7|959|c.732T>G|c.(730-732)cgT>cgG|p.R244R|0.683291770573566|ACGGGCTTCTACCTGCAGCCA|MEGF6_ENST00000294599.4_SPLICE_SITE_p.R139R|Ovarian(73_%3B_978_%20_3658)||||||||||||||||||||||||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(11)|||||||AL513320|NM_001409.3|NP_001400.3|HGNC:3232|multiple_%20_EGF_%20_like_%20_domains_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EGFL3|"EGF-like-domain_%2C__%20_multiple_%20_3"_%2C__%20_"multiple_%20_EGF-like-domains_%20_6"|||1p36.32|2016-10-05|2006-03-31|2016-01-21|AB011539||1953|ENSG00000162591|9693030|NM_001409|||CCDS41237|OTTHUMG00000000611|1953|604266|NM_001409|O75095|ENSG00000162591|uc001akl.4|MEGF6_HUMAN||Q4AC86_%7C_Q5VV39|O75095||extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3440796 exm7131 G A . PASS FUNCOTATION=[MEGF6|hg19|chr1|3440796|3440796|NONSENSE||SNP|G|G|A|g.chr1:3440796G>A|ENST00000356575.4|-|5|723|c.496C>T|c.(496-498)Cga>Tga|p.R166*|0.6608478802992519|TTGTGGGTTCGGCATTCGTCC|MEGF6_ENST00000294599.4_NONSENSE_p.R61*|Ovarian(73_%3B_978_%20_3658)||||||||||||||||||||||||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(11)|||||||AL513320|NM_001409.3|NP_001400.3|HGNC:3232|multiple_%20_EGF_%20_like_%20_domains_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EGFL3|"EGF-like-domain_%2C__%20_multiple_%20_3"_%2C__%20_"multiple_%20_EGF-like-domains_%20_6"|||1p36.32|2016-10-05|2006-03-31|2016-01-21|AB011539||1953|ENSG00000162591|9693030|NM_001409|||CCDS41237|OTTHUMG00000000611|1953|604266|NM_001409|O75095|ENSG00000162591|uc001akl.4|MEGF6_HUMAN||Q4AC86_%7C_Q5VV39|O75095||extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3540024 rs12757620 T G . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3540024|3540024|FIVE_PRIME_FLANK||SNP|T|T|G|g.chr1:3540024T>G|ENST00000344579.5|+||||||0.5835411471321695|CAGGTCTTGCTGGGCGTGCCA|TPRG1L_ENST00000378344.2_FIVE_PRIME_FLANK/RP11-46F15.2_ENST00000435049.1_RNA|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC019034|||HGNC:27007|tumor_%20_protein_%20_p63_%20_regulated_%20_1_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FAM79A|"family_%20_with_%20_sequence_%20_similarity_%20_79_%2C__%20_member_%20_A"|RP11-46F15.3_%2C__%20_FLJ21811||1p36.32|2016-07-27|2008-01-16|2016-07-27|BC019034||127262|ENSG00000158109|12477932|NM_182752|||CCDS47|OTTHUMG00000000609|127262|611460|NM_182752|Q5T0D9|ENSG00000158109|uc001akm.4|TPRGL_HUMAN||A8K1K4_%7C_Q8WV04|Q5T0D9||cell_%20_junction_%20_(GO:0030054)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_synaptic_%20_vesicle_%20_(GO:0008021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3542385 indel.400 GA G . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3542386|3542386|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:3542386delA|ENST00000378344.2|+|3|473|c.403delA|c.(403-405)atafs|p.I135fs|0.5486284289276808|GGTGGTGCGGATAGCGCTCAA|TPRG1L_ENST00000344579.5_INTRON/RP11-46F15.2_ENST00000435049.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC019034|NM_182752.3|NP_877429.2|HGNC:27007|tumor_%20_protein_%20_p63_%20_regulated_%20_1_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FAM79A|"family_%20_with_%20_sequence_%20_similarity_%20_79_%2C__%20_member_%20_A"|RP11-46F15.3_%2C__%20_FLJ21811||1p36.32|2016-07-27|2008-01-16|2016-07-27|BC019034||127262|ENSG00000158109|12477932|NM_182752|||CCDS47|OTTHUMG00000000609|127262|611460|NM_182752|Q5T0D9|ENSG00000158109|uc001akm.4|TPRGL_HUMAN||A8K1K4_%7C_Q8WV04|Q5T0D9||cell_%20_junction_%20_(GO:0030054)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_synaptic_%20_vesicle_%20_(GO:0008021)|||||true|false||false|false|||false|false|false|TPRG1L:127262|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|749859577|3542386|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|144|rs749859577|] +1 3542422 newrs148462952 G T . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3542422|3542422|NONSENSE||SNP|G|G|T|g.chr1:3542422G>T|ENST00000378344.2|+|3|510|c.439G>T|c.(439-441)Gaa>Taa|p.E147*|0.5087281795511222|TTCCTACGGAGAATTCCAGTT|TPRG1L_ENST00000344579.5_INTRON/RP11-46F15.2_ENST00000435049.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC019034|NM_182752.3|NP_877429.2|HGNC:27007|tumor_%20_protein_%20_p63_%20_regulated_%20_1_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FAM79A|"family_%20_with_%20_sequence_%20_similarity_%20_79_%2C__%20_member_%20_A"|RP11-46F15.3_%2C__%20_FLJ21811||1p36.32|2016-07-27|2008-01-16|2016-07-27|BC019034||127262|ENSG00000158109|12477932|NM_182752|||CCDS47|OTTHUMG00000000609|127262|611460|NM_182752|Q5T0D9|ENSG00000158109|uc001akm.4|TPRGL_HUMAN||A8K1K4_%7C_Q8WV04|Q5T0D9||cell_%20_junction_%20_(GO:0030054)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_synaptic_%20_vesicle_%20_(GO:0008021)|||||true|false||false|false|||false|false|false|TPRG1L:127262|false|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|148462952|3542422|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000080605040002000100|1|false|134|rs148462952|] +1 3544065 variant.403 C T . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3544065|3544065|SPLICE_SITE|NONSENSE|SNP|C|C|T|g.chr1:3544065C>T|ENST00000378344.2|+|4|543|c.472C>T|c.(472-474)Cga>Tga|p.R158*|0.4389027431421446|ACTTTTCAGGCGAGAAGGTTT|TPRG1L_ENST00000344579.5_SPLICE_SITE_p.R99*/RP11-46F15.2_ENST00000435049.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC019034|NM_182752.3|NP_877429.2|HGNC:27007|tumor_%20_protein_%20_p63_%20_regulated_%20_1_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FAM79A|"family_%20_with_%20_sequence_%20_similarity_%20_79_%2C__%20_member_%20_A"|RP11-46F15.3_%2C__%20_FLJ21811||1p36.32|2016-07-27|2008-01-16|2016-07-27|BC019034||127262|ENSG00000158109|12477932|NM_182752|||CCDS47|OTTHUMG00000000609|127262|611460|NM_182752|Q5T0D9|ENSG00000158109|uc001akm.4|TPRGL_HUMAN||A8K1K4_%7C_Q8WV04|Q5T0D9||cell_%20_junction_%20_(GO:0030054)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_synaptic_%20_vesicle_%20_(GO:0008021)|||||true|false||false|false|||false|false|false|TPRG1L:127262|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|370133742|3544065|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000605000402000100|1|false|138|rs370133742|] +1 3544065 variant.403 C T . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3544065|3544065|SPLICE_SITE|NONSENSE|SNP|C|C|T|g.chr1:3544065C>T|ENST00000378344.2|+|4|543|c.472C>T|c.(472-474)Cga>Tga|p.R158*|0.4389027431421446|ACTTTTCAGGCGAGAAGGTTT|TPRG1L_ENST00000344579.5_SPLICE_SITE_p.R99*/RP11-46F15.2_ENST00000435049.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC019034|NM_182752.3|NP_877429.2|HGNC:27007|tumor_%20_protein_%20_p63_%20_regulated_%20_1_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FAM79A|"family_%20_with_%20_sequence_%20_similarity_%20_79_%2C__%20_member_%20_A"|RP11-46F15.3_%2C__%20_FLJ21811||1p36.32|2016-07-27|2008-01-16|2016-07-27|BC019034||127262|ENSG00000158109|12477932|NM_182752|||CCDS47|OTTHUMG00000000609|127262|611460|NM_182752|Q5T0D9|ENSG00000158109|uc001akm.4|TPRGL_HUMAN||A8K1K4_%7C_Q8WV04|Q5T0D9||cell_%20_junction_%20_(GO:0030054)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_synaptic_%20_vesicle_%20_(GO:0008021)|||||true|false||false|false|||false|false|false|TPRG1L:127262|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|370133742|3544065|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000605000402000100|1|false|138|rs370133742|] +1 3544995 variant.405 T G . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3544995|3544995|NONSENSE||SNP|T|T|G|g.chr1:3544995T>G|ENST00000378344.2|+|5|718|c.647T>G|c.(646-648)tTa>tGa|p.L216*|0.49625935162094764|AAGGCTCTGTTAATCCAAGCT|TPRG1L_ENST00000344579.5_NONSENSE_p.L157*/RP11-46F15.2_ENST00000435049.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC019034|NM_182752.3|NP_877429.2|HGNC:27007|tumor_%20_protein_%20_p63_%20_regulated_%20_1_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FAM79A|"family_%20_with_%20_sequence_%20_similarity_%20_79_%2C__%20_member_%20_A"|RP11-46F15.3_%2C__%20_FLJ21811||1p36.32|2016-07-27|2008-01-16|2016-07-27|BC019034||127262|ENSG00000158109|12477932|NM_182752|||CCDS47|OTTHUMG00000000609|127262|611460|NM_182752|Q5T0D9|ENSG00000158109|uc001akm.4|TPRGL_HUMAN||A8K1K4_%7C_Q8WV04|Q5T0D9||cell_%20_junction_%20_(GO:0030054)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_synaptic_%20_vesicle_%20_(GO:0008021)|||||true|false||false|false|||false|false|false|TPRG1L:127262|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|750555620|3544995|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000605040402000100|1|false|144|rs750555620|] +1 3545612 rs1128474 A G . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3545612|3545612|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:3545612A>G|ENST00000378344.2|+|5|||||0.4937655860349127|AGTTGCAAGTATGTTTACACC|TPRG1L_ENST00000344579.5_THREE_PRIME_UTR/RP11-46F15.2_ENST00000435049.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC019034|NM_182752.3|NP_877429.2|HGNC:27007|tumor_%20_protein_%20_p63_%20_regulated_%20_1_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FAM79A|"family_%20_with_%20_sequence_%20_similarity_%20_79_%2C__%20_member_%20_A"|RP11-46F15.3_%2C__%20_FLJ21811||1p36.32|2016-07-27|2008-01-16|2016-07-27|BC019034||127262|ENSG00000158109|12477932|NM_182752|||CCDS47|OTTHUMG00000000609|127262|611460|NM_182752|Q5T0D9|ENSG00000158109|uc001akm.4|TPRGL_HUMAN||A8K1K4_%7C_Q8WV04|Q5T0D9||cell_%20_junction_%20_(GO:0030054)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_synaptic_%20_vesicle_%20_(GO:0008021)|||||true|false|0.7949_%2C_0.2051|false|false|1||false|true|false|TPRG1L:127262|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|1128474|3545612|false|false|0|true|0|false|0.832853_%2C_0.167147|false|true|false|SNV|true|0x050100800005150537000100|1|false|86|rs1128474|] +1 3648066 exm7419 T C . PASS FUNCOTATION=[TP73|hg19|chr1|3648066|3648066|SILENT||SNP|T|T|C|g.chr1:3648066T>C|ENST00000378295.4|+|13|1679|c.1524T>C|c.(1522-1524)taT>taC|p.Y508Y|0.5885286783042394|GCATCGAGTATTTCACCTCCC|TP73_ENST00000378280.1_MISSENSE_p.F410L/TP73_ENST00000378288.4_SILENT_p.Y459Y/TP73_ENST00000378290.4_SILENT_p.Y437Y/TP73_ENST00000604479.1_SILENT_p.Y412Y/TP73_ENST00000604074.1_INTRON/TP73_ENST00000354437.4_INTRON/TP73_ENST00000378285.1_INTRON/TP73_ENST00000603362.1_INTRON/TP73_ENST00000346387.4_SILENT_p.Y412Y/TP73_ENST00000357733.3_INTRON|||||||||||||||||||||||||680|biliary_tract(2)_%7C_breast(47)_%7C_central_nervous_system(61)_%7C_haematopoietic_and_lymphoid_tissue(177)_%7C_kidney(112)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)_%7C_skin(33)_%7C_soft_tissue(24)_%7C_upper_aerodigestive_tract(1)|||||||Y11416|NM_005427.3|NP_005418.1|HGNC:12003|tumor_%20_protein_%20_p73|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||P73||1p36.32|2017-07-07|||AB055065||7161|ENSG00000078900|9296498_%2C__%20_9288759|NM_005427|||CCDS49_%2C__%20_CCDS44049_%2C__%20_CCDS44050_%2C__%20_CCDS44051_%2C__%20_CCDS55566_%2C__%20_CCDS55567_%2C__%20_CCDS55568_%2C__%20_CCDS55569_%2C__%20_CCDS59965|OTTHUMG00000000610|7161|601990|NM_001126240|O15350|ENSG00000078900|uc001akp.4|P73_HUMAN||B7Z7J4_%7C_B7Z8Z1_%7C_B7Z9C1_%7C_C9J521_%7C_O15351_%7C_Q17RN8_%7C_Q5TBV5_%7C_Q5TBV6_%7C_Q8NHW9_%7C_Q8TDY5_%7C_Q8TDY6_%7C_Q9NTK8|O15350|activation_%20_of_%20_MAPK_%20_activity_%20_(GO:0000187)_%7C_cell_%20_cycle_%20_arrest_%20_(GO:0007050)_%7C_cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_cerebrospinal_%20_fluid_%20_secretion_%20_(GO:0033326)_%7C_digestive_%20_tract_%20_morphogenesis_%20_(GO:0048546)_%7C_DNA_%20_damage_%20_response_%2C__%20_signal_%20_transduction_%20_by_%20_p53_%20_class_%20_mediator_%20_resulting_%20_in_%20_transcription_%20_of_%20_p21_%20_class_%20_mediator_%20_(GO:0006978)_%7C_hippocampus_%20_development_%20_(GO:0021766)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_(GO:0008630)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_by_%20_p53_%20_class_%20_mediator_%20_(GO:0042771)_%7C_kidney_%20_development_%20_(GO:0001822)_%7C_mismatch_%20_repair_%20_(GO:0006298)_%7C_mitotic_%20_G1_%20_DNA_%20_damage_%20_checkpoint_%20_(GO:0031571)_%7C_negative_%20_regulation_%20_of_%20_JUN_%20_kinase_%20_activity_%20_(GO:0043508)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_differentiation_%20_(GO:0045665)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_neuron_%20_development_%20_(GO:0048666)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_size_%20_(GO:0045793)_%7C_positive_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_by_%20_p53_%20_class_%20_mediator_%20_(GO:1902167)_%7C_positive_%20_regulation_%20_of_%20_oligodendrocyte_%20_differentiation_%20_(GO:0048714)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_post-embryonic_%20_development_%20_(GO:0009791)_%7C_protein_%20_tetramerization_%20_(GO:0051262)_%7C_release_%20_of_%20_cytochrome_%20_c_%20_from_%20_mitochondria_%20_(GO:0001836)_%7C_response_%20_to_%20_gamma_%20_radiation_%20_(GO:0010332)_%7C_response_%20_to_%20_organonitrogen_%20_compound_%20_(GO:0010243)_%7C_response_%20_to_%20_X-ray_%20_(GO:0010165)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|chromatin_%20_(GO:0000785)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)|chromatin_%20_binding_%20_(GO:0003682)_%7C_damaged_%20_DNA_%20_binding_%20_(GO:0003684)_%7C_double-stranded_%20_DNA_%20_binding_%20_(GO:0003690)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_p53_%20_binding_%20_(GO:0002039)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)_%7C_transcription_%20_regulatory_%20_region_%20_DNA_%20_binding_%20_(GO:0044212)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3649562 rs9662633 G A . PASS FUNCOTATION=[TP73|hg19|chr1|3649562|3649562|SILENT||SNP|G|G|A|g.chr1:3649562G>A|ENST00000378295.4|+|14|1985|c.1830G>A|c.(1828-1830)gcG>gcA|p.A610A|0.685785536159601|ACGAGTGGGCGGACTTCGGCT|TP73_ENST00000378288.4_SILENT_p.A561A/TP73_ENST00000378290.4_SILENT_p.A539A/TP73_ENST00000603362.1_SILENT_p.A529A/TP73_ENST00000604479.1_SILENT_p.A514A/TP73_ENST00000604074.1_THREE_PRIME_UTR/TP73_ENST00000354437.4_THREE_PRIME_UTR/TP73_ENST00000378285.1_THREE_PRIME_UTR/TP73_ENST00000378280.1_THREE_PRIME_UTR/TP73_ENST00000357733.3_SILENT_p.A529A/TP73_ENST00000346387.4_SILENT_p.A514A|||||||||||||||||||||||||680|biliary_tract(2)_%7C_breast(47)_%7C_central_nervous_system(61)_%7C_haematopoietic_and_lymphoid_tissue(177)_%7C_kidney(112)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)_%7C_skin(33)_%7C_soft_tissue(24)_%7C_upper_aerodigestive_tract(1)|||||||Y11416|NM_005427.3|NP_005418.1|HGNC:12003|tumor_%20_protein_%20_p73|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||P73||1p36.32|2017-07-07|||AB055065||7161|ENSG00000078900|9296498_%2C__%20_9288759|NM_005427|||CCDS49_%2C__%20_CCDS44049_%2C__%20_CCDS44050_%2C__%20_CCDS44051_%2C__%20_CCDS55566_%2C__%20_CCDS55567_%2C__%20_CCDS55568_%2C__%20_CCDS55569_%2C__%20_CCDS59965|OTTHUMG00000000610|7161|601990|NM_001126240|O15350|ENSG00000078900|uc001akp.4|P73_HUMAN||B7Z7J4_%7C_B7Z8Z1_%7C_B7Z9C1_%7C_C9J521_%7C_O15351_%7C_Q17RN8_%7C_Q5TBV5_%7C_Q5TBV6_%7C_Q8NHW9_%7C_Q8TDY5_%7C_Q8TDY6_%7C_Q9NTK8|O15350|activation_%20_of_%20_MAPK_%20_activity_%20_(GO:0000187)_%7C_cell_%20_cycle_%20_arrest_%20_(GO:0007050)_%7C_cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_cerebrospinal_%20_fluid_%20_secretion_%20_(GO:0033326)_%7C_digestive_%20_tract_%20_morphogenesis_%20_(GO:0048546)_%7C_DNA_%20_damage_%20_response_%2C__%20_signal_%20_transduction_%20_by_%20_p53_%20_class_%20_mediator_%20_resulting_%20_in_%20_transcription_%20_of_%20_p21_%20_class_%20_mediator_%20_(GO:0006978)_%7C_hippocampus_%20_development_%20_(GO:0021766)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_(GO:0008630)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_by_%20_p53_%20_class_%20_mediator_%20_(GO:0042771)_%7C_kidney_%20_development_%20_(GO:0001822)_%7C_mismatch_%20_repair_%20_(GO:0006298)_%7C_mitotic_%20_G1_%20_DNA_%20_damage_%20_checkpoint_%20_(GO:0031571)_%7C_negative_%20_regulation_%20_of_%20_JUN_%20_kinase_%20_activity_%20_(GO:0043508)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_differentiation_%20_(GO:0045665)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_neuron_%20_development_%20_(GO:0048666)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_size_%20_(GO:0045793)_%7C_positive_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_by_%20_p53_%20_class_%20_mediator_%20_(GO:1902167)_%7C_positive_%20_regulation_%20_of_%20_oligodendrocyte_%20_differentiation_%20_(GO:0048714)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_post-embryonic_%20_development_%20_(GO:0009791)_%7C_protein_%20_tetramerization_%20_(GO:0051262)_%7C_release_%20_of_%20_cytochrome_%20_c_%20_from_%20_mitochondria_%20_(GO:0001836)_%7C_response_%20_to_%20_gamma_%20_radiation_%20_(GO:0010332)_%7C_response_%20_to_%20_organonitrogen_%20_compound_%20_(GO:0010243)_%7C_response_%20_to_%20_X-ray_%20_(GO:0010165)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|chromatin_%20_(GO:0000785)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)|chromatin_%20_binding_%20_(GO:0003682)_%7C_damaged_%20_DNA_%20_binding_%20_(GO:0003684)_%7C_double-stranded_%20_DNA_%20_binding_%20_(GO:0003690)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_p53_%20_binding_%20_(GO:0002039)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)_%7C_transcription_%20_regulatory_%20_region_%20_DNA_%20_binding_%20_(GO:0044212)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3651031 rs12562437 C T . PASS FUNCOTATION=[TP73|hg19|chr1|3651031|3651031|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:3651031C>T|ENST00000378295.4|+|14|||||0.6384039900249376|CCCTCACCCACGCAAGCCGAG|TP73_ENST00000378288.4_THREE_PRIME_UTR/TP73_ENST00000604074.1_THREE_PRIME_UTR|||||||||||||||||||||||||680|biliary_tract(2)_%7C_breast(47)_%7C_central_nervous_system(61)_%7C_haematopoietic_and_lymphoid_tissue(177)_%7C_kidney(112)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)_%7C_skin(33)_%7C_soft_tissue(24)_%7C_upper_aerodigestive_tract(1)|||||||Y11416|NM_005427.3|NP_005418.1|HGNC:12003|tumor_%20_protein_%20_p73|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||P73||1p36.32|2017-07-07|||AB055065||7161|ENSG00000078900|9296498_%2C__%20_9288759|NM_005427|||CCDS49_%2C__%20_CCDS44049_%2C__%20_CCDS44050_%2C__%20_CCDS44051_%2C__%20_CCDS55566_%2C__%20_CCDS55567_%2C__%20_CCDS55568_%2C__%20_CCDS55569_%2C__%20_CCDS59965|OTTHUMG00000000610|7161|601990|NM_001126240|O15350|ENSG00000078900|uc001akp.4|P73_HUMAN||B7Z7J4_%7C_B7Z8Z1_%7C_B7Z9C1_%7C_C9J521_%7C_O15351_%7C_Q17RN8_%7C_Q5TBV5_%7C_Q5TBV6_%7C_Q8NHW9_%7C_Q8TDY5_%7C_Q8TDY6_%7C_Q9NTK8|O15350|activation_%20_of_%20_MAPK_%20_activity_%20_(GO:0000187)_%7C_cell_%20_cycle_%20_arrest_%20_(GO:0007050)_%7C_cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_cerebrospinal_%20_fluid_%20_secretion_%20_(GO:0033326)_%7C_digestive_%20_tract_%20_morphogenesis_%20_(GO:0048546)_%7C_DNA_%20_damage_%20_response_%2C__%20_signal_%20_transduction_%20_by_%20_p53_%20_class_%20_mediator_%20_resulting_%20_in_%20_transcription_%20_of_%20_p21_%20_class_%20_mediator_%20_(GO:0006978)_%7C_hippocampus_%20_development_%20_(GO:0021766)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_(GO:0008630)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_by_%20_p53_%20_class_%20_mediator_%20_(GO:0042771)_%7C_kidney_%20_development_%20_(GO:0001822)_%7C_mismatch_%20_repair_%20_(GO:0006298)_%7C_mitotic_%20_G1_%20_DNA_%20_damage_%20_checkpoint_%20_(GO:0031571)_%7C_negative_%20_regulation_%20_of_%20_JUN_%20_kinase_%20_activity_%20_(GO:0043508)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_differentiation_%20_(GO:0045665)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_neuron_%20_development_%20_(GO:0048666)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_size_%20_(GO:0045793)_%7C_positive_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_by_%20_p53_%20_class_%20_mediator_%20_(GO:1902167)_%7C_positive_%20_regulation_%20_of_%20_oligodendrocyte_%20_differentiation_%20_(GO:0048714)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_post-embryonic_%20_development_%20_(GO:0009791)_%7C_protein_%20_tetramerization_%20_(GO:0051262)_%7C_release_%20_of_%20_cytochrome_%20_c_%20_from_%20_mitochondria_%20_(GO:0001836)_%7C_response_%20_to_%20_gamma_%20_radiation_%20_(GO:0010332)_%7C_response_%20_to_%20_organonitrogen_%20_compound_%20_(GO:0010243)_%7C_response_%20_to_%20_X-ray_%20_(GO:0010165)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|chromatin_%20_(GO:0000785)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)|chromatin_%20_binding_%20_(GO:0003682)_%7C_damaged_%20_DNA_%20_binding_%20_(GO:0003684)_%7C_double-stranded_%20_DNA_%20_binding_%20_(GO:0003690)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_p53_%20_binding_%20_(GO:0002039)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)_%7C_transcription_%20_regulatory_%20_region_%20_DNA_%20_binding_%20_(GO:0044212)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3651409 rs10910018 G A . PASS FUNCOTATION=[TP73|hg19|chr1|3651409|3651409|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:3651409G>A|ENST00000378295.4|+|14|||||0.6408977556109726|GGGGCTGTCGGCTCTCAGGGG|TP73_ENST00000378288.4_THREE_PRIME_UTR/TP73_ENST00000604074.1_THREE_PRIME_UTR|||||||||||||||||||||||||680|biliary_tract(2)_%7C_breast(47)_%7C_central_nervous_system(61)_%7C_haematopoietic_and_lymphoid_tissue(177)_%7C_kidney(112)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)_%7C_skin(33)_%7C_soft_tissue(24)_%7C_upper_aerodigestive_tract(1)|||||||Y11416|NM_005427.3|NP_005418.1|HGNC:12003|tumor_%20_protein_%20_p73|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||P73||1p36.32|2017-07-07|||AB055065||7161|ENSG00000078900|9296498_%2C__%20_9288759|NM_005427|||CCDS49_%2C__%20_CCDS44049_%2C__%20_CCDS44050_%2C__%20_CCDS44051_%2C__%20_CCDS55566_%2C__%20_CCDS55567_%2C__%20_CCDS55568_%2C__%20_CCDS55569_%2C__%20_CCDS59965|OTTHUMG00000000610|7161|601990|NM_001126240|O15350|ENSG00000078900|uc001akp.4|P73_HUMAN||B7Z7J4_%7C_B7Z8Z1_%7C_B7Z9C1_%7C_C9J521_%7C_O15351_%7C_Q17RN8_%7C_Q5TBV5_%7C_Q5TBV6_%7C_Q8NHW9_%7C_Q8TDY5_%7C_Q8TDY6_%7C_Q9NTK8|O15350|activation_%20_of_%20_MAPK_%20_activity_%20_(GO:0000187)_%7C_cell_%20_cycle_%20_arrest_%20_(GO:0007050)_%7C_cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_cerebrospinal_%20_fluid_%20_secretion_%20_(GO:0033326)_%7C_digestive_%20_tract_%20_morphogenesis_%20_(GO:0048546)_%7C_DNA_%20_damage_%20_response_%2C__%20_signal_%20_transduction_%20_by_%20_p53_%20_class_%20_mediator_%20_resulting_%20_in_%20_transcription_%20_of_%20_p21_%20_class_%20_mediator_%20_(GO:0006978)_%7C_hippocampus_%20_development_%20_(GO:0021766)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_(GO:0008630)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_by_%20_p53_%20_class_%20_mediator_%20_(GO:0042771)_%7C_kidney_%20_development_%20_(GO:0001822)_%7C_mismatch_%20_repair_%20_(GO:0006298)_%7C_mitotic_%20_G1_%20_DNA_%20_damage_%20_checkpoint_%20_(GO:0031571)_%7C_negative_%20_regulation_%20_of_%20_JUN_%20_kinase_%20_activity_%20_(GO:0043508)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_differentiation_%20_(GO:0045665)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_neuron_%20_development_%20_(GO:0048666)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_size_%20_(GO:0045793)_%7C_positive_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_by_%20_p53_%20_class_%20_mediator_%20_(GO:1902167)_%7C_positive_%20_regulation_%20_of_%20_oligodendrocyte_%20_differentiation_%20_(GO:0048714)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_post-embryonic_%20_development_%20_(GO:0009791)_%7C_protein_%20_tetramerization_%20_(GO:0051262)_%7C_release_%20_of_%20_cytochrome_%20_c_%20_from_%20_mitochondria_%20_(GO:0001836)_%7C_response_%20_to_%20_gamma_%20_radiation_%20_(GO:0010332)_%7C_response_%20_to_%20_organonitrogen_%20_compound_%20_(GO:0010243)_%7C_response_%20_to_%20_X-ray_%20_(GO:0010165)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|chromatin_%20_(GO:0000785)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)|chromatin_%20_binding_%20_(GO:0003682)_%7C_damaged_%20_DNA_%20_binding_%20_(GO:0003684)_%7C_double-stranded_%20_DNA_%20_binding_%20_(GO:0003690)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_p53_%20_binding_%20_(GO:0002039)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)_%7C_transcription_%20_regulatory_%20_region_%20_DNA_%20_binding_%20_(GO:0044212)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3657759 rs12117836 G A . PASS FUNCOTATION=[TP73-AS1|hg19|chr1|3657759|3657759|RNA||SNP|G|G|A|g.chr1:3657759G>A|ENST00000452079.1|-|||c.e4+808C>T|||0.5037406483790524|CAAAAGGACCGGAGGCCTTTG|TP73-AS1_ENST00000418088.1_RNA/TP73-AS1_ENST00000423764.1_RNA/TP73-AS1_ENST00000587071.1_RNA/TP73-AS1_ENST00000608600.1_RNA/TP73-AS1_ENST00000419973.1_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||HGNC:29052|TP73_%20_antisense_%20_RNA_%20_1|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|KIAA0495|"KIAA0495"|PDAM|"p53-dependent_%20_apoptosis_%20_modulator"|1p36.32|2017-04-28|2014-01-20|2014-01-20|||57212|ENSG00000227372|20477830_%2C__%20_23726844_%2C__%20_28403886|NR_033708|788|Long_%20_non-coding_%20_RNAs_%20_(published)||OTTHUMG00000003414|57212||NR_033708|Q9UF72|ENSG00000227372|uc009vlm.4|T73AS_HUMAN|||Q9UF72||extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3659657 rs2298222 G A . PASS FUNCOTATION=[TP73-AS1|hg19|chr1|3659657|3659657|RNA||SNP|G|G|A|g.chr1:3659657G>A|ENST00000452079.1|-|||c.e2+32C>T|||0.5810473815461347|AGAGGCCGCCGGGAACAGGCA|TP73-AS1_ENST00000418088.1_RNA/TP73-AS1_ENST00000423764.1_RNA/TP73-AS1_ENST00000608600.1_RNA/TP73-AS1_ENST00000587071.1_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||HGNC:29052|TP73_%20_antisense_%20_RNA_%20_1|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|KIAA0495|"KIAA0495"|PDAM|"p53-dependent_%20_apoptosis_%20_modulator"|1p36.32|2017-04-28|2014-01-20|2014-01-20|||57212|ENSG00000227372|20477830_%2C__%20_23726844_%2C__%20_28403886|NR_033708|788|Long_%20_non-coding_%20_RNAs_%20_(published)||OTTHUMG00000003414|57212||NR_033708|Q9UF72|ENSG00000227372|uc009vlm.4|T73AS_HUMAN|||Q9UF72||extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3669362 exm7506 C T . PASS FUNCOTATION=[CCDC27|hg19|chr1|3669362|3669362|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:3669362C>T|ENST00000294600.2|+|1|401|c.317C>T|c.(316-318)aCg>aTg|p.T106M|0.6034912718204489|TACAGGAAGACGGTATGGGGT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112112|NM_152492.2|NP_689705.2|HGNC:26546|coiled-coil_%20_domain_%20_containing_%20_27|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32825||1p36.32|2014-11-19|||||148870|ENSG00000162592||NM_152492|||CCDS50|OTTHUMG00000003504|148870||NM_152492|Q2M243|ENSG00000162592|uc001akv.3|CCD27_HUMAN||Q5TBV3_%7C_Q96M50|Q2M243|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3672032 exm7520 G T . PASS FUNCOTATION=[CCDC27|hg19|chr1|3672032|3672032|NONSENSE||SNP|G|G|T|g.chr1:3672032G>T|ENST00000294600.2|+|3|538|c.454G>T|c.(454-456)Gag>Tag|p.E152*|0.5860349127182045|TTCACCCACTGAGGCCGATTT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112112|NM_152492.2|NP_689705.2|HGNC:26546|coiled-coil_%20_domain_%20_containing_%20_27|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32825||1p36.32|2014-11-19|||||148870|ENSG00000162592||NM_152492|||CCDS50|OTTHUMG00000003504|148870||NM_152492|Q2M243|ENSG00000162592|uc001akv.3|CCD27_HUMAN||Q5TBV3_%7C_Q96M50|Q2M243|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3673329 newrs150537276 G T . PASS FUNCOTATION=[CCDC27|hg19|chr1|3673329|3673329|NONSENSE||SNP|G|G|T|g.chr1:3673329G>T|ENST00000294600.2|+|4|670|c.586G>T|c.(586-588)Gag>Tag|p.E196*|0.5785536159600998|GAGCATCTGCGAGTTCGATTA||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112112|NM_152492.2|NP_689705.2|HGNC:26546|coiled-coil_%20_domain_%20_containing_%20_27|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32825||1p36.32|2014-11-19|||||148870|ENSG00000162592||NM_152492|||CCDS50|OTTHUMG00000003504|148870||NM_152492|Q2M243|ENSG00000162592|uc001akv.3|CCD27_HUMAN||Q5TBV3_%7C_Q96M50|Q2M243|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3677854 exm2251521 C T . PASS FUNCOTATION=[CCDC27|hg19|chr1|3677854|3677854|SILENT||SNP|C|C|T|g.chr1:3677854C>T|ENST00000294600.2|+|5|805|c.721C>T|c.(721-723)Ctg>Ttg|p.L241L|0.5785536159600998|GGATCACTGCCTGTCTGAGCT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112112|NM_152492.2|NP_689705.2|HGNC:26546|coiled-coil_%20_domain_%20_containing_%20_27|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32825||1p36.32|2014-11-19|||||148870|ENSG00000162592||NM_152492|||CCDS50|OTTHUMG00000003504|148870||NM_152492|Q2M243|ENSG00000162592|uc001akv.3|CCD27_HUMAN||Q5TBV3_%7C_Q96M50|Q2M243|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3679252 exm2251522 G A . PASS FUNCOTATION=[CCDC27|hg19|chr1|3679252|3679252|SILENT||SNP|G|G|A|g.chr1:3679252G>A|ENST00000294600.2|+|6|1014|c.930G>A|c.(928-930)gaG>gaA|p.E310E|0.6658354114713217|CCAGACATGAGGAGGAGCTGC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112112|NM_152492.2|NP_689705.2|HGNC:26546|coiled-coil_%20_domain_%20_containing_%20_27|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32825||1p36.32|2014-11-19|||||148870|ENSG00000162592||NM_152492|||CCDS50|OTTHUMG00000003504|148870||NM_152492|Q2M243|ENSG00000162592|uc001akv.3|CCD27_HUMAN||Q5TBV3_%7C_Q96M50|Q2M243|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3680362 exm7600 C T . PASS FUNCOTATION=[CCDC27|hg19|chr1|3680362|3680362|NONSENSE||SNP|C|C|T|g.chr1:3680362C>T|ENST00000294600.2|+|8|1498|c.1414C>T|c.(1414-1416)Cga>Tga|p.R472*|0.6259351620947631|GAAGGAGCTCCGAGAGCGGAG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112112|NM_152492.2|NP_689705.2|HGNC:26546|coiled-coil_%20_domain_%20_containing_%20_27|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32825||1p36.32|2014-11-19|||||148870|ENSG00000162592||NM_152492|||CCDS50|OTTHUMG00000003504|148870||NM_152492|Q2M243|ENSG00000162592|uc001akv.3|CCD27_HUMAN||Q5TBV3_%7C_Q96M50|Q2M243|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3686357 variant.429 T G . PASS FUNCOTATION=[CCDC27|hg19|chr1|3686357|3686357|NONSENSE||SNP|T|T|G|g.chr1:3686357T>G|ENST00000294600.2|+|11|1838|c.1754T>G|c.(1753-1755)tTa>tGa|p.L585*|0.5386533665835411|CTCGAGAGGTTAAGGAATAAG|SMIM1_ENST00000444870.2_FIVE_PRIME_FLANK/SMIM1_ENST00000561886.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112112|NM_152492.2|NP_689705.2|HGNC:26546|coiled-coil_%20_domain_%20_containing_%20_27|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32825||1p36.32|2014-11-19|||||148870|ENSG00000162592||NM_152492|||CCDS50|OTTHUMG00000003504|148870||NM_152492|Q2M243|ENSG00000162592|uc001akv.3|CCD27_HUMAN||Q5TBV3_%7C_Q96M50|Q2M243|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3696925 psy_rs11547616 C T . PASS FUNCOTATION=[LRRC47|hg19|chr1|3696925|3696925|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:3696925C>T|ENST00000378251.1|-|7|||||0.4488778054862843|ACACACTGCACGAGAATATTG|RN7SL574P_ENST00000581512.1_FIVE_PRIME_FLANK/RP1-286D6.5_ENST00000607459.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||BC031301|NM_020710.2|NP_065761.1|HGNC:29207|leucine_%20_rich_%20_repeat_%20_containing_%20_47|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA1185_%2C__%20_RP1-286D6.3||1p36.32|2014-11-19|||AB033011||57470|ENSG00000130764|10574461|NM_020710|||CCDS51|OTTHUMG00000003506|57470||NM_020710|Q8N1G4|ENSG00000130764|uc001akx.2|LRC47_HUMAN||Q9ULN5|Q8N1G4|||phenylalanine-tRNA_%20_ligase_%20_activity_%20_(GO:0004826)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3698166 var_1_3698166 C T . PASS FUNCOTATION=[LRRC47|hg19|chr1|3698166|3698166|SPLICE_SITE|INTRON|SNP|C|C|T|g.chr1:3698166C>T|ENST00000378251.1|-|||c.e6+1G>A|c.e6-1||0.4613466334164589|TTTTCTTAACCTTAAAAGAAA|RN7SL574P_ENST00000581512.1_FIVE_PRIME_FLANK/RP1-286D6.5_ENST00000607459.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||BC031301|NM_020710.2|NP_065761.1|HGNC:29207|leucine_%20_rich_%20_repeat_%20_containing_%20_47|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA1185_%2C__%20_RP1-286D6.3||1p36.32|2014-11-19|||AB033011||57470|ENSG00000130764|10574461|NM_020710|||CCDS51|OTTHUMG00000003506|57470||NM_020710|Q8N1G4|ENSG00000130764|uc001akx.2|LRC47_HUMAN||Q9ULN5|Q8N1G4|||phenylalanine-tRNA_%20_ligase_%20_activity_%20_(GO:0004826)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3739988 variant.436 G A . PASS FUNCOTATION=[CEP104|hg19|chr1|3739988|3739988|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:3739988G>A|ENST00000378230.3|-|19|2828|c.2503C>T|c.(2503-2505)Cct>Tct|p.P835S|0.5411471321695761|GGGCACTCACGGTTGCAATCC||||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3743271 variant.437 C A . PASS FUNCOTATION=[CEP104|hg19|chr1|3743271|3743271|SPLICE_SITE|INTRON|SNP|C|C|A|g.chr1:3743271C>A|ENST00000378230.3|-|||c.e16-1G>T|c.e16+1||0.46384039900249374|TCTTTACATACCCTGATTCTT||||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3751489 variant.438 G A . PASS FUNCOTATION=[CEP104|hg19|chr1|3751489|3751489|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:3751489G>A|ENST00000378230.3|-|11|1810|c.1485C>T|c.(1483-1485)tcC>tcT|p.S495S|0.48129675810473815|GGGCACTCACGGAGGTCACAA|CEP104_ENST00000460038.1_SPLICE_SITE|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3751489 variant.438 G A . PASS FUNCOTATION=[CEP104|hg19|chr1|3751489|3751489|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:3751489G>A|ENST00000378230.3|-|11|1810|c.1485C>T|c.(1483-1485)tcC>tcT|p.S495S|0.48129675810473815|GGGCACTCACGGAGGTCACAA|CEP104_ENST00000460038.1_SPLICE_SITE|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3753856 exm7850 A G . PASS FUNCOTATION=[CEP104|hg19|chr1|3753856|3753856|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:3753856A>G|ENST00000378230.3|-|9|1444|c.1119T>C|c.(1117-1119)aaT>aaC|p.N373N|0.47880299251870323|AATTACCTACATTGATCTTTG|CEP104_ENST00000460038.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3753856 exm7850 A G . PASS FUNCOTATION=[CEP104|hg19|chr1|3753856|3753856|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:3753856A>G|ENST00000378230.3|-|9|1444|c.1119T>C|c.(1117-1119)aaT>aaC|p.N373N|0.47880299251870323|AATTACCTACATTGATCTTTG|CEP104_ENST00000460038.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3753972 exm7856 G A . PASS FUNCOTATION=[CEP104|hg19|chr1|3753972|3753972|NONSENSE||SNP|G|G|A|g.chr1:3753972G>A|ENST00000378230.3|-|9|1328|c.1003C>T|c.(1003-1005)Cag>Tag|p.Q335*|0.43640897755610975|TCTGCAAACTGGTTTTCTGTT|CEP104_ENST00000460038.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3755660 variant.443 A C . PASS FUNCOTATION=[CEP104|hg19|chr1|3755660|3755660|NONSENSE||SNP|A|A|C|g.chr1:3755660A>C|ENST00000378230.3|-|8|1084|c.759T>G|c.(757-759)taT>taG|p.Y253*|0.5112219451371571|TCTCTACCTCATACCTCCCAA|CEP104_ENST00000460038.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3756342 variant.444 T C . PASS FUNCOTATION=[CEP104|hg19|chr1|3756342|3756342|SPLICE_SITE|INTRON|SNP|T|T|C|g.chr1:3756342T>C|ENST00000378230.3|-|||c.e7+2A>G|c.e7-2||0.428927680798005|TCAGATTTCCTAAAGGGAAGA|CEP104_ENST00000460038.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3761541 variant.445 G A . PASS FUNCOTATION=[CEP104|hg19|chr1|3761541|3761541|NONSENSE||SNP|G|G|A|g.chr1:3761541G>A|ENST00000378230.3|-|6|821|c.496C>T|c.(496-498)Cga>Tga|p.R166*|0.4164588528678304|AACTTCTCTCGAGAGGCCTTT|CEP104_ENST00000378223.3_NONSENSE_p.R166*|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3761547 exm7894 C A . PASS FUNCOTATION=[CEP104|hg19|chr1|3761547|3761547|SPLICE_SITE|MISSENSE|SNP|C|C|A|g.chr1:3761547C>A|ENST00000378230.3|-|6|815|c.490G>T|c.(490-492)Gcc>Tcc|p.A164S|0.4164588528678304|TCTCGAGAGGCCTTTGGGGGC|CEP104_ENST00000378223.3_SPLICE_SITE_p.A164S|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3765282 exm2251546 C T . PASS FUNCOTATION=[CEP104|hg19|chr1|3765282|3765282|SILENT||SNP|C|C|T|g.chr1:3765282C>T|ENST00000378230.3|-|3|502|c.177G>A|c.(175-177)ctG>ctA|p.L59L|0.3740648379052369|CAAGTAACTGCAGTTTCCTTA|CEP104_ENST00000378223.3_SILENT_p.L59L|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3765302 chr1_3765302 T A . PASS FUNCOTATION=[CEP104|hg19|chr1|3765302|3765302|NONSENSE||SNP|T|T|A|g.chr1:3765302T>A|ENST00000378230.3|-|3|482|c.157A>T|c.(157-159)Aga>Tga|p.R53*|0.3790523690773067|ATTCGACATCTCTCCACCATT|CEP104_ENST00000378223.3_NONSENSE_p.R53*|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(3)|||||||BC050721|NM_014704.3|NP_055519.1|HGNC:24866|centrosomal_%20_protein_%20_104|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0562|"KIAA0562"_%2C__%20_"centrosomal_%20_protein_%20_104kDa"|GlyBP_%2C__%20_RP1-286D6.4_%2C__%20_CFAP256_%2C__%20_ROC22_%2C__%20_JBTS25|"glycine_%2C__%20_glutamate_%2C__%20_thienylcyclohexylpiperidine_%20_binding_%20_protein"|1p36.32|2016-03-30|2011-05-06|2016-03-30|AB011134||9731|ENSG00000116198|7488117_%2C__%20_21399614_%2C__%20_23970417|NM_014704|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS30571|OTTHUMG00000003507|9731|616690|NM_014704|O60308|ENSG00000116198|uc001aky.3|CE104_HUMAN||Q5JSQ3_%7C_Q5SR24_%7C_Q5SR25_%7C_Q6PKF5_%7C_Q86W32_%7C_Q86X14|O60308||centriole_%20_(GO:0005814)|glutamate_%20_binding_%20_(GO:0016595)_%7C_glycine_%20_binding_%20_(GO:0016594)_%7C_thienylcyclohexylpiperidine_%20_binding_%20_(GO:0016596)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3784549 variant.448 C T . PASS FUNCOTATION=[DFFB|hg19|chr1|3784549|3784549|NONSENSE||SNP|C|C|T|g.chr1:3784549C>T|ENST00000378209.3|+|4|765|c.442C>T|c.(442-444)Cga>Tga|p.R148*|0.5760598503740648|CTTGGAGTCCCGATTTCAGAG|DFFB_ENST00000338895.3_NONSENSE_p.R148*|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC048797|NM_004402.2|NP_004393.1|HGNC:2773|DNA_%20_fragmentation_%20_factor_%20_subunit_%20_beta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DNA_%20_fragmentation_%20_factor_%2C__%20_40kDa_%2C__%20_beta_%20_polypeptide_%20_(caspase-activated_%20_DNase)"|CAD_%2C__%20_CPAN_%2C__%20_DFF-40_%2C__%20_DFF40|"caspase-activated_%20_DNase"|1p36.32|2016-10-05||2016-02-03|||1677|ENSG00000169598|9108473_%2C__%20_9560346|NM_001282669|||CCDS52_%2C__%20_CCDS72693|OTTHUMG00000003525|1677|601883|NM_001282669|O76075|ENSG00000169598|uc001alc.5|DFFB_HUMAN||O60521_%7C_Q5SR22_%7C_Q9BYI4_%7C_Q9BYI5_%7C_Q9BYI6|O76075|apoptotic_%20_chromosome_%20_condensation_%20_(GO:0030263)_%7C_apoptotic_%20_DNA_%20_fragmentation_%20_(GO:0006309)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_cellular_%20_component_%20_disassembly_%20_involved_%20_in_%20_execution_%20_phase_%20_of_%20_apoptosis_%20_(GO:0006921)|cytosol_%20_(GO:0005829)_%7C_nuclear_%20_chromatin_%20_(GO:0000790)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|deoxyribonuclease_%20_activity_%20_(GO:0004536)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_enzyme_%20_binding_%20_(GO:0019899)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|DFFB:1677|false|true|false|false|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|371788433|3784549|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000605040426000100|1|false|138|rs371788433|] +1 3789041 indel.451 CT C . PASS FUNCOTATION=[DFFB|hg19|chr1|3789042|3789042|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:3789042delT|ENST00000378209.3|+|6|1010|c.688delT|c.(688-690)tttfs|p.F230fs|0.5885286783042394|CCAGGGTCCCTTTGACATGGA|DFFB_ENST00000338895.3_FRAME_SHIFT_DEL_p.F230fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC048797|NM_004402.2|NP_004393.1|HGNC:2773|DNA_%20_fragmentation_%20_factor_%20_subunit_%20_beta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DNA_%20_fragmentation_%20_factor_%2C__%20_40kDa_%2C__%20_beta_%20_polypeptide_%20_(caspase-activated_%20_DNase)"|CAD_%2C__%20_CPAN_%2C__%20_DFF-40_%2C__%20_DFF40|"caspase-activated_%20_DNase"|1p36.32|2016-10-05||2016-02-03|||1677|ENSG00000169598|9108473_%2C__%20_9560346|NM_001282669|||CCDS52_%2C__%20_CCDS72693|OTTHUMG00000003525|1677|601883|NM_001282669|O76075|ENSG00000169598|uc001alc.5|DFFB_HUMAN||O60521_%7C_Q5SR22_%7C_Q9BYI4_%7C_Q9BYI5_%7C_Q9BYI6|O76075|apoptotic_%20_chromosome_%20_condensation_%20_(GO:0030263)_%7C_apoptotic_%20_DNA_%20_fragmentation_%20_(GO:0006309)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_cellular_%20_component_%20_disassembly_%20_involved_%20_in_%20_execution_%20_phase_%20_of_%20_apoptosis_%20_(GO:0006921)|cytosol_%20_(GO:0005829)_%7C_nuclear_%20_chromatin_%20_(GO:0000790)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|deoxyribonuclease_%20_activity_%20_(GO:0004536)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_enzyme_%20_binding_%20_(GO:0019899)||||true|false||false|false|||false|false|false|DFFB:1677|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|755710345|3789042|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs755710345|] +1 3800158 indel.452 TG T . PASS FUNCOTATION=[DFFB|hg19|chr1|3800159|3800159|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:3800159delG|ENST00000378209.3|+|7|1193|c.871delG|c.(871-873)ggcfs|p.G291fs|0.46384039900249374|GTATTTTTATGGCCTGCTTTT|AL691523.1_ENST00000579705.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC048797|NM_004402.2|NP_004393.1|HGNC:2773|DNA_%20_fragmentation_%20_factor_%20_subunit_%20_beta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DNA_%20_fragmentation_%20_factor_%2C__%20_40kDa_%2C__%20_beta_%20_polypeptide_%20_(caspase-activated_%20_DNase)"|CAD_%2C__%20_CPAN_%2C__%20_DFF-40_%2C__%20_DFF40|"caspase-activated_%20_DNase"|1p36.32|2016-10-05||2016-02-03|||1677|ENSG00000169598|9108473_%2C__%20_9560346|NM_001282669|||CCDS52_%2C__%20_CCDS72693|OTTHUMG00000003525|1677|601883|NM_001282669|O76075|ENSG00000169598|uc001alc.5|DFFB_HUMAN||O60521_%7C_Q5SR22_%7C_Q9BYI4_%7C_Q9BYI5_%7C_Q9BYI6|O76075|apoptotic_%20_chromosome_%20_condensation_%20_(GO:0030263)_%7C_apoptotic_%20_DNA_%20_fragmentation_%20_(GO:0006309)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_cellular_%20_component_%20_disassembly_%20_involved_%20_in_%20_execution_%20_phase_%20_of_%20_apoptosis_%20_(GO:0006921)|cytosol_%20_(GO:0005829)_%7C_nuclear_%20_chromatin_%20_(GO:0000790)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|deoxyribonuclease_%20_activity_%20_(GO:0004536)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_enzyme_%20_binding_%20_(GO:0019899)||||true|false||false|false|||false|false|false|DFFB:1677|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|777060714|3800159|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs777060714|] +1 3806595 exm8005 G A . PASS FUNCOTATION=[C1orf174|hg19|chr1|3806595|3806595|NONSENSE||SNP|G|G|A|g.chr1:3806595G>A|ENST00000361605.3|-|4|760|c.661C>T|c.(661-663)Cga>Tga|p.R221*|0.4314214463840399|CTGAACTCTCGTCTGCTCATT|C1orf174_ENST00000486765.1_INTRON|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471130|NM_207356.2|NP_997239.2|HGNC:27915|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_174|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||RP13-531C17.2||1p36.32|2017-07-11|||BC035643||339448|ENSG00000198912|12477932|NM_207356|||CCDS53|OTTHUMG00000003739|339448||NM_207356|Q8IYL3|ENSG00000198912|uc001alf.4|CA174_HUMAN||A8K0C8_%7C_A8MUG9_%7C_Q5SR20_%7C_Q6NX36|Q8IYL3||nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3806595 variant.453 G A . PASS FUNCOTATION=[C1orf174|hg19|chr1|3806595|3806595|NONSENSE||SNP|G|G|A|g.chr1:3806595G>A|ENST00000361605.3|-|4|760|c.661C>T|c.(661-663)Cga>Tga|p.R221*|0.4314214463840399|CTGAACTCTCGTCTGCTCATT|C1orf174_ENST00000486765.1_INTRON|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471130|NM_207356.2|NP_997239.2|HGNC:27915|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_174|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||RP13-531C17.2||1p36.32|2017-07-11|||BC035643||339448|ENSG00000198912|12477932|NM_207356|||CCDS53|OTTHUMG00000003739|339448||NM_207356|Q8IYL3|ENSG00000198912|uc001alf.4|CA174_HUMAN||A8K0C8_%7C_A8MUG9_%7C_Q5SR20_%7C_Q6NX36|Q8IYL3||nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3807537 variant.455 G A . PASS FUNCOTATION=[C1orf174|hg19|chr1|3807537|3807537|NONSENSE||SNP|G|G|A|g.chr1:3807537G>A|ENST00000361605.3|-|3|313|c.214C>T|c.(214-216)Cag>Tag|p.Q72*|0.47381546134663344|ACAAGCTTCTGTAATTCTGAC|C1orf174_ENST00000486765.1_INTRON|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471130|NM_207356.2|NP_997239.2|HGNC:27915|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_174|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||RP13-531C17.2||1p36.32|2017-07-11|||BC035643||339448|ENSG00000198912|12477932|NM_207356|||CCDS53|OTTHUMG00000003739|339448||NM_207356|Q8IYL3|ENSG00000198912|uc001alf.4|CA174_HUMAN||A8K0C8_%7C_A8MUG9_%7C_Q5SR20_%7C_Q6NX36|Q8IYL3||nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 3821782 rs11589102 G A . PASS FUNCOTATION=[C1orf174|hg19|chr1|3821782|3821782|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:3821782G>A|ENST00000361605.3|-||||||0.4688279301745636|CTAAACTAATGTTTTCTTAAT|RP13-15E13.1_ENST00000442673.1_LINCRNA/C1orf174_ENST00000486765.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471130|NM_207356.2|NP_997239.2|HGNC:27915|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_174|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||RP13-531C17.2||1p36.32|2017-07-11|||BC035643||339448|ENSG00000198912|12477932|NM_207356|||CCDS53|OTTHUMG00000003739|339448||NM_207356|Q8IYL3|ENSG00000198912|uc001alf.4|CA174_HUMAN||A8K0C8_%7C_A8MUG9_%7C_Q5SR20_%7C_Q6NX36|Q8IYL3||nucleus_%20_(GO:0005634)|||||true|false|0.8093_%2C_0.1907|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11589102|3821782|false|false|0|true|0|false|0.748643_%2C_0.251357|false|false|false|SNV|true|0x05010008000517053f000101|1|false|120|rs11589102|] +1 3822703 rs10909830 C T . PASS FUNCOTATION=[RP13-15E13.1|hg19|chr1|3822703|3822703|LINCRNA||SNP|C|C|T|g.chr1:3822703C>T|ENST00000442673.1|+|||c.e1+5508C>T|||0.5012468827930174|TTTTCACCGACGCAGGCCCGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7055_%2C_0.2945|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10909830|3822703|false|false|0|true|0|false|0.663061_%2C_0.336939|false|false|false|SNV|true|0x05010008000517053f000100|1|false|120|rs10909830|] +1 3823395 kgp9113347 C T . PASS FUNCOTATION=[RP13-15E13.1|hg19|chr1|3823395|3823395|LINCRNA||SNP|C|C|T|g.chr1:3823395C>T|ENST00000442673.1|+|||c.e1+6200C>T|||0.5411471321695761|TGCAGATCCACGTCTGCCTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8087_%2C_0.1913|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28973022|3823395|false|false|0|true|0|false|0.748918_%2C_0.251082|false|false|false|SNV|true|0x05010008000517053f000100|1|false|125|rs28973022|] +1 3825525 rs35383955 C T . PASS FUNCOTATION=[RP13-15E13.1|hg19|chr1|3825525|3825525|LINCRNA||SNP|C|C|T|g.chr1:3825525C>T|ENST00000442673.1|+|||c.e2-5434C>T|||0.600997506234414|GTGCCCCAAGCGGAGCTCTTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7456_%2C_0.2544|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|35383955|3825525|false|false|0|true|0|false||false|false|false|SNV|true|0x05010008000517053e000100|1|false|126|rs35383955|] +1 4002498 psy_rs7538691 T C . PASS FUNCOTATION=[RP13-614K11.1|hg19|chr1|4002498|4002498|LINCRNA||SNP|T|T|C|g.chr1:4002498T>C|ENST00000412674.1|+|||c.e2+1295T>C|||0.456359102244389|ATCCACATGCTGAAGTCCTTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4375_%2C_0.5625|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7538691|4002498|false|false|0|true|0|false|0.405969_%2C_0.594031|false|false|false|SNV|true|0x05010008000517053f000100|1|false|116|rs7538691|] +1 4005693 rs7524279 G A . PASS FUNCOTATION=[RP13-614K11.1|hg19|chr1|4005693|4005693|LINCRNA||SNP|G|G|A|g.chr1:4005693G>A|ENST00000412674.1|+|||c.e2+4490G>A|||0.5760598503740648|GACGGGAGGAGAAAATGCTTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6971_%2C_0.3029|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7524279|4005693|false|false|0|true|0|false|0.703791_%2C_0.296209|false|false|false|SNV|true|0x05010008000517053f000100|1|false|116|rs7524279|] +1 4006060 rs7548668 T C . PASS FUNCOTATION=[RP13-614K11.1|hg19|chr1|4006060|4006060|LINCRNA||SNP|T|T|C|g.chr1:4006060T>C|ENST00000412674.1|+|||c.e2+4857T>C|||0.6184538653366584|CAGAGCGGCATCTGGTTGCCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5789_%2C_0.4211|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7548668|4006060|false|false|0|true|0|false|0.550072_%2C_0.449928|false|false|false|SNV|true|0x05010008000517053f000101|1|false|116|rs7548668|] +1 4009071 rs10799181 T C . PASS FUNCOTATION=[RP13-614K11.1|hg19|chr1|4009071|4009071|LINCRNA||SNP|T|T|C|g.chr1:4009071T>C|ENST00000412674.1|+|||c.e3-3242T>C|||0.5187032418952618|TTGATTTCCTTTCATCCGTCC|RP13-614K11.2_ENST00000425194.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8125_%2C_0.1875|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10799181|4009071|false|false|0|true|0|false|0.796964_%2C_0.203036|false|false|false|SNV|true|0x05010008000517053f000101|1|false|120|rs10799181|] +1 4009694 psy_rs4654479 G A . PASS FUNCOTATION=[RP13-614K11.1|hg19|chr1|4009694|4009694|LINCRNA||SNP|G|G|A|g.chr1:4009694G>A|ENST00000412674.1|+|||c.e3-2619G>A|||0.42643391521197005|AATTATAGATGTGCTTTGATG|RP13-614K11.2_ENST00000425194.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8255_%2C_0.1745|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4654479|4009694|false|false|0|true|0|false|0.824713_%2C_0.175287|false|false|false|SNV|true|0x05010008000517053f000101|1|false|111|rs4654479|] +1 4009793 psy_rs4654480 C T . PASS FUNCOTATION=[RP13-614K11.1|hg19|chr1|4009793|4009793|LINCRNA||SNP|C|C|T|g.chr1:4009793C>T|ENST00000412674.1|+|||c.e3-2520C>T|||0.428927680798005|CTCACAGAGTCGCAGCTTGGT|RP13-614K11.2_ENST00000425194.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8079_%2C_0.1921|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4654480|4009793|false|false|0|true|0|false|0.796552_%2C_0.203448|false|false|false|SNV|true|0x050100080005170537000100|1|false|111|rs4654480|] +1 4481215 rs4654432 C T . PASS FUNCOTATION=[RP5-1166F10.1|hg19|chr1|4481215|4481215|LINCRNA||SNP|C|C|T|g.chr1:4481215C>T|ENST00000423197.1|+|||c.e4-1605C>T|||0.45885286783042395|CTGACCCTTTCGAGGCCAGAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 4634978 rs1541318 A G . PASS FUNCOTATION=[RP1-37J18.2|hg19|chr1|4634978|4634978|LINCRNA||SNP|A|A|G|g.chr1:4634978A>G|ENST00000420522.1|+|||c.e2+2326A>G|||0.3865336658354115|AGATGTAAATATGGACTCATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 4636767 rs1157688 T C . PASS FUNCOTATION=[RP1-37J18.2|hg19|chr1|4636767|4636767|LINCRNA||SNP|T|T|C|g.chr1:4636767T>C|ENST00000420522.1|+|||c.e2+4115T>C|||0.3640897755610973|TCATTTTAAGTTCTGTTCATC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 4640902 rs1024139 T C . PASS FUNCOTATION=[RP1-37J18.2|hg19|chr1|4640902|4640902|LINCRNA||SNP|T|T|C|g.chr1:4640902T>C|ENST00000420522.1|+|||c.e3-1435T>C|||0.4014962593516209|GAGTTCCCAGTATCAGTTATC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 4832482 exm2251963 C T . PASS FUNCOTATION=[AJAP1|hg19|chr1|4832482|4832482|SILENT||SNP|C|C|T|g.chr1:4832482C>T|ENST00000378191.4|+|4|1441|c.1060C>T|c.(1060-1062)Ctg>Ttg|p.L354L|0.6059850374064838|TAACGAGACCCTGCAGTGTTC|AJAP1_ENST00000378190.3_SILENT_p.L354L|||||||||||||||||||||||||116|biliary_tract(27)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||Z98886|NM_018836.3|NP_061324.1|HGNC:30801|adherens_%20_junctions_%20_associated_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SHREW1_%2C__%20_SHREW-1_%2C__%20_MOT8|"transmembrane_%20_protein_%20_SHREW1"|1p36.32|2014-11-19||2008-01-08|AF175409||55966|ENSG00000196581|14595118|NM_018836|||CCDS54|OTTHUMG00000000645|55966|610972|NM_001042478|Q9UKB5|ENSG00000196581|uc001alo.5|AJAP1_HUMAN||Q9Y229|Q9UKB5|cell_%20_adhesion_%20_(GO:0007155)|cell_%20_junction_%20_(GO:0030054)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 4843233 psy_rs115280749 G A . PASS FUNCOTATION=[AJAP1|hg19|chr1|4843233|4843233|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:4843233G>A|ENST00000378191.4|+|6|||||0.3690773067331671|ATAAACCAGTGTTTTCTACTT||||||||||||||||||||||||||116|biliary_tract(27)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||Z98886|NM_018836.3|NP_061324.1|HGNC:30801|adherens_%20_junctions_%20_associated_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SHREW1_%2C__%20_SHREW-1_%2C__%20_MOT8|"transmembrane_%20_protein_%20_SHREW1"|1p36.32|2014-11-19||2008-01-08|AF175409||55966|ENSG00000196581|14595118|NM_018836|||CCDS54|OTTHUMG00000000645|55966|610972|NM_001042478|Q9UKB5|ENSG00000196581|uc001alo.5|AJAP1_HUMAN||Q9Y229|Q9UKB5|cell_%20_adhesion_%20_(GO:0007155)|cell_%20_junction_%20_(GO:0030054)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 4844376 rs9426506 C T . PASS FUNCOTATION=[AJAP1|hg19|chr1|4844376|4844376|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:4844376C>T|ENST00000378191.4|+|6|||||0.5236907730673317|GTTTCCTGTCCATGGGAGACG||||||||||||||||||||||||||116|biliary_tract(27)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||Z98886|NM_018836.3|NP_061324.1|HGNC:30801|adherens_%20_junctions_%20_associated_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SHREW1_%2C__%20_SHREW-1_%2C__%20_MOT8|"transmembrane_%20_protein_%20_SHREW1"|1p36.32|2014-11-19||2008-01-08|AF175409||55966|ENSG00000196581|14595118|NM_018836|||CCDS54|OTTHUMG00000000645|55966|610972|NM_001042478|Q9UKB5|ENSG00000196581|uc001alo.5|AJAP1_HUMAN||Q9Y229|Q9UKB5|cell_%20_adhesion_%20_(GO:0007155)|cell_%20_junction_%20_(GO:0030054)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 4847594 rs11805709 C T . PASS FUNCOTATION=[AJAP1|hg19|chr1|4847594|4847594|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:4847594C>T|ENST00000378191.4|+|6|||||0.5660847880299252|GATAAGACATCGCAGTTGTTA||||||||||||||||||||||||||116|biliary_tract(27)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||Z98886|NM_018836.3|NP_061324.1|HGNC:30801|adherens_%20_junctions_%20_associated_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SHREW1_%2C__%20_SHREW-1_%2C__%20_MOT8|"transmembrane_%20_protein_%20_SHREW1"|1p36.32|2014-11-19||2008-01-08|AF175409||55966|ENSG00000196581|14595118|NM_018836|||CCDS54|OTTHUMG00000000645|55966|610972|NM_001042478|Q9UKB5|ENSG00000196581|uc001alo.5|AJAP1_HUMAN||Q9Y229|Q9UKB5|cell_%20_adhesion_%20_(GO:0007155)|cell_%20_junction_%20_(GO:0030054)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5671786 rs707582 A G . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5671786|5671786|LINCRNA||SNP|A|A|G|g.chr1:5671786A>G|ENST00000413887.1|-|||c.e2+24151T>C|||0.4688279301745636|AGTTCCAAGGACCAGAGCAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5674434 rs770718 T C . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5674434|5674434|LINCRNA||SNP|T|T|C|g.chr1:5674434T>C|ENST00000413887.1|-|||c.e2+26799A>G|||0.4488778054862843|ACCAGGAATCTTTTTTGCCCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5679441 rs9439603 A G . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5679441|5679441|LINCRNA||SNP|A|A|G|g.chr1:5679441A>G|ENST00000413887.1|-|||c.e2+31806T>C|||0.4613466334164589|TATCTCAATCATGAACTAATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5679808 rs9439587 G A . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5679808|5679808|LINCRNA||SNP|G|G|A|g.chr1:5679808G>A|ENST00000413887.1|-|||c.e2+32173C>T|||0.48877805486284287|ATGATGGAGAGTGAGGAACTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5680572 rs10157819 A G . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5680572|5680572|LINCRNA||SNP|A|A|G|g.chr1:5680572A>G|ENST00000413887.1|-|||c.e2+32937T>C|||0.5286783042394015|TGTGACTCTTAAGACTAGATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5684301 rs945322 A C . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5684301|5684301|LINCRNA||SNP|A|A|C|g.chr1:5684301A>C|ENST00000413887.1|-|||c.e2+36666T>G|||0.456359102244389|TGTTGGTTCAAATTTTTTAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5686915 rs4845793 A G . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5686915|5686915|LINCRNA||SNP|A|A|G|g.chr1:5686915A>G|ENST00000413887.1|-|||c.e2+39280T>C|||0.36658354114713215|TATATTGGTCACAAATTGGAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5701323 rs6690868 T C . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5701323|5701323|LINCRNA||SNP|T|T|C|g.chr1:5701323T>C|ENST00000413887.1|-|||c.e1-26878A>G|||0.45885286783042395|CCAGCAGGTGTGCCTGTCTCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5703552 rs17028491 G A . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5703552|5703552|LINCRNA||SNP|G|G|A|g.chr1:5703552G>A|ENST00000413887.1|-|||c.e1-24649C>T|||0.4538653366583541|CCTTGGACAAGGTGTAAGGAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5705925 psy_rs140106773 C T . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5705925|5705925|LINCRNA||SNP|C|C|T|g.chr1:5705925C>T|ENST00000413887.1|-|||c.e1-22276G>A|||0.5062344139650873|CCCCCACATGCCCCAAATTCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5707091 rs971816 A C . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5707091|5707091|LINCRNA||SNP|A|A|C|g.chr1:5707091A>C|ENST00000413887.1|-|||c.e1-21110T>G|||0.5610972568578554|GGTTTATAAGATGGACGTGGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5711647 rs707589 T C . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5711647|5711647|LINCRNA||SNP|T|T|C|g.chr1:5711647T>C|ENST00000413887.1|-|||c.e1-16554A>G|||0.5511221945137157|GTTTCCCCAATGGTCTCCAGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5712831 rs707590 A G . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5712831|5712831|LINCRNA||SNP|A|A|G|g.chr1:5712831A>G|ENST00000413887.1|-|||c.e1-15370T>C|||0.5561097256857855|CCAAGGGGCCAGAGGATAAAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5717388 exm2252278 T C . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5717388|5717388|LINCRNA||SNP|T|T|C|g.chr1:5717388T>C|ENST00000413887.1|-|||c.e1-10813A>G|||0.4389027431421446|GGGGGCACCTTTGGTCTTCAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5721189 exm2260467 A G . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5721189|5721189|LINCRNA||SNP|A|A|G|g.chr1:5721189A>G|ENST00000413887.1|-|||c.e1-7012T>C|||0.5112219451371571|ATACAGTGACACAACCTAGCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5722405 rs770721 G A . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5722405|5722405|LINCRNA||SNP|G|G|A|g.chr1:5722405G>A|ENST00000413887.1|-|||c.e1-5796C>T|||0.5835411471321695|AAGCAGTGTCGAAGGAATGTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5724940 rs707580 T C . PASS FUNCOTATION=[RP11-154H17.1|hg19|chr1|5724940|5724940|LINCRNA||SNP|T|T|C|g.chr1:5724940T>C|ENST00000413887.1|-|||c.e1-3261A>G|||0.5261845386533666|AAAAGGAATATCTGCCTGTAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5933360 exm2275415 G A . PASS FUNCOTATION=[NPHP4|hg19|chr1|5933360|5933360|SILENT||SNP|G|G|A|g.chr1:5933360G>A|ENST00000378156.4|-|23|3533|c.3267C>T|c.(3265-3267)gaC>gaT|p.D1089D|0.6159600997506235|GTGACACGGCGTCCATGCCCT|NPHP4_ENST00000478423.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5933384 exm2252388 C G . PASS FUNCOTATION=[NPHP4|hg19|chr1|5933384|5933384|SILENT||SNP|C|C|G|g.chr1:5933384C>G|ENST00000378156.4|-|23|3509|c.3243G>C|c.(3241-3243)ggG>ggC|p.G1081G|0.6184538653366584|CGTTGCTCAACCCAGGAGAGG|NPHP4_ENST00000478423.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5933384 exm8213 C G . PASS FUNCOTATION=[NPHP4|hg19|chr1|5933384|5933384|SILENT||SNP|C|C|G|g.chr1:5933384C>G|ENST00000378156.4|-|23|3509|c.3243G>C|c.(3241-3243)ggG>ggC|p.G1081G|0.6184538653366584|CGTTGCTCAACCCAGGAGAGG|NPHP4_ENST00000478423.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5934716 exm8230 C T . PASS FUNCOTATION=[NPHP4|hg19|chr1|5934716|5934716|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:5934716C>T|ENST00000378156.4|-|22|3312|c.3046G>A|c.(3046-3048)Gtc>Atc|p.V1016I|0.6658354114713217|TCCACGATGACGCTGGGGGAG|NPHP4_ENST00000478423.2_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5935159 exm8261 G A . PASS FUNCOTATION=[NPHP4|hg19|chr1|5935159|5935159|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:5935159G>A|ENST00000378156.4|-|21|3085|c.2819C>T|c.(2818-2820)gCg>gTg|p.A940V|0.6309226932668329|GCTCTGCTGCGCCAGCAGACA|NPHP4_ENST00000478423.2_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5935162 exm8262 A T . PASS FUNCOTATION=[NPHP4|hg19|chr1|5935162|5935162|SPLICE_SITE|INTRON|SNP|A|A|T|g.chr1:5935162A>T|ENST00000378156.4|-|||c.e21+2T>A|c.e21-2||0.628428927680798|CTGCTGCGCCAGCAGACAAGA|NPHP4_ENST00000478423.2_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5947525 exm8307 T A . PASS FUNCOTATION=[NPHP4|hg19|chr1|5947525|5947525|SPLICE_SITE|MISSENSE|SNP|T|T|A|g.chr1:5947525T>A|ENST00000378156.4|-|18|2572|c.2306A>T|c.(2305-2307)cAt>cTt|p.H769L|0.6533665835411472|GCGGAGGAGATGCTGCAGAAG|NPHP4_ENST00000478423.2_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5950982 exm1844957 G A . PASS FUNCOTATION=[NPHP4|hg19|chr1|5950982|5950982|SILENT||SNP|G|G|A|g.chr1:5950982G>A|ENST00000378156.4|-|17|2516|c.2250C>T|c.(2248-2250)gaC>gaT|p.D750D|0.5536159600997507|CGTCCCAGACGTCAATCTGCA|NPHP4_ENST00000478423.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5964678 exm8320 A T . PASS FUNCOTATION=[NPHP4|hg19|chr1|5964678|5964678|SPLICE_SITE|SILENT|SNP|A|A|T|g.chr1:5964678A>T|ENST00000378156.4|-|16|2408|c.2142T>A|c.(2140-2142)gcT>gcA|p.A714A|0.5261845386533666|AGTACTCACCAGCATCAAAGG|NPHP4_ENST00000478423.2_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5964678 exm8320 A T . PASS FUNCOTATION=[NPHP4|hg19|chr1|5964678|5964678|SPLICE_SITE|SILENT|SNP|A|A|T|g.chr1:5964678A>T|ENST00000378156.4|-|16|2408|c.2142T>A|c.(2140-2142)gcT>gcA|p.A714A|0.5261845386533666|AGTACTCACCAGCATCAAAGG|NPHP4_ENST00000478423.2_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 5965372 exm2252398 T C . PASS FUNCOTATION=[NPHP4|hg19|chr1|5965372|5965372|SILENT||SNP|T|T|C|g.chr1:5965372T>C|ENST00000378156.4|-|15|2201|c.1935A>G|c.(1933-1935)ctA>ctG|p.L645L|0.49875311720698257|CAAGAAACTGTAGCACCATCT|NPHP4_ENST00000478423.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6007194 exm2252413 C A . PASS FUNCOTATION=[NPHP4|hg19|chr1|6007194|6007194|SILENT||SNP|C|C|A|g.chr1:6007194C>A|ENST00000378156.4|-|9|1355|c.1089G>T|c.(1087-1089)gtG>gtT|p.V363V|0.4937655860349127|GGCTGCTGAACACGTACTCCA|NPHP4_ENST00000478423.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6012895 exm8414 G A . PASS FUNCOTATION=[NPHP4|hg19|chr1|6012895|6012895|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:6012895G>A|ENST00000378156.4|-|7|941|c.675C>T|c.(673-675)ggC>ggT|p.G225G|0.5960099750623441|GGAGAGCGTCGCCTGAAACAG|NPHP4_ENST00000478423.2_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6012895 exm8414 G A . PASS FUNCOTATION=[NPHP4|hg19|chr1|6012895|6012895|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:6012895G>A|ENST00000378156.4|-|7|941|c.675C>T|c.(673-675)ggC>ggT|p.G225G|0.5960099750623441|GGAGAGCGTCGCCTGAAACAG|NPHP4_ENST00000478423.2_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6029157 variant.488 G A . PASS FUNCOTATION=[NPHP4|hg19|chr1|6029157|6029157|NONSENSE||SNP|G|G|A|g.chr1:6029157G>A|ENST00000378156.4|-|4|708|c.442C>T|c.(442-444)Cag>Tag|p.Q148*|0.5187032418952618|CTTTTGTCCTGGGAAGCAGAG|NPHP4_ENST00000478423.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6046217 variant.490 G A . PASS FUNCOTATION=[NPHP4|hg19|chr1|6046217|6046217|NONSENSE||SNP|G|G|A|g.chr1:6046217G>A|ENST00000378156.4|-|2|399|c.133C>T|c.(133-135)Cag>Tag|p.Q45*|0.47880299251870323|TTTGTTACCTGCCTAATTACC|NPHP4_ENST00000478423.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY118228|NM_015102.3|NP_055917.1|HGNC:19104|nephrocystin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nephronophthisis_%20_4"|SLSN4_%2C__%20_KIAA0673_%2C__%20_POC10|"nephroretinin"_%2C__%20_"POC10_%20_centriolar_%20_protein_%20_homolog_%20_(Chlamydomonas)"|1p36.31|2016-10-05||2016-05-16|AB014573||261734|ENSG00000131697|11920287_%2C__%20_12205563||1546|NPHP_%20_complex|CCDS44052|OTTHUMG00000000701|261734|607215|NM_001291593|O75161|ENSG00000131697|uc001alq.3|NPHP4_HUMAN||Q8IWC0|O75161|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_negative_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090090)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_visual_%20_behavior_%20_(GO:0007632)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_tight_%20_junction_%20_(GO:0005923)|structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6158562 rs3205229 A G . PASS FUNCOTATION=[KCNAB2|hg19|chr1|6158562|6158562|SILENT||SNP|A|A|G|g.chr1:6158562A>G|ENST00000164247.1|+|16|1596|c.1032A>G|c.(1030-1032)tcA>tcG|p.S344S|0.5386533665835411|CGAAACTGTCATCTTCCATTA|KCNAB2_ENST00000378097.1_SILENT_p.S344S/KCNAB2_ENST00000341524.1_SILENT_p.S344S/KCNAB2_ENST00000352527.1_SILENT_p.S330S/KCNAB2_ENST00000378092.1_SILENT_p.S330S/KCNAB2_ENST00000378083.3_SILENT_p.S392S/KCNAB2_ENST00000602612.1_THREE_PRIME_UTR/KCNAB2_ENST00000378111.1_INTRON/KCNAB2_ENST00000458166.2_SILENT_p.S277S/KCNAB2_ENST00000378087.3_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U33429|NM_001199860.1|NP_001186789.1|HGNC:6229|potassium_%20_voltage-gated_%20_channel_%20_subfamily_%20_A_%20_regulatory_%20_beta_%20_subunit_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"potassium_%20_voltage-gated_%20_channel_%2C__%20_shaker-related_%20_subfamily_%2C__%20_beta_%20_member_%20_2"_%2C__%20_"potassium_%20_channel_%2C__%20_voltage_%20_gated_%20_subfamily_%20_A_%20_regulatory_%20_beta_%20_subunit_%20_2"|AKR6A5_%2C__%20_KCNA2B_%2C__%20_HKvbeta2.1_%2C__%20_HKvbeta2.2||1p36.31|2016-10-05||2016-02-04|U33429||8514|ENSG00000069424|8838324|NM_172130|399_%7C_858|Aldo-keto_%20_reductases_%7C_Potassium_%20_voltage-gated_%20_channel_%20_regulatory_%20_subunits|CCDS55_%2C__%20_CCDS56_%2C__%20_CCDS55570_%2C__%20_CCDS55571|OTTHUMG00000000795|8514|601142|NM_001199860|Q13303|ENSG00000069424|uc009vlv.3|KCAB2_HUMAN||A0AVM9_%7C_A8K1A4_%7C_B0AZR7_%7C_O43659_%7C_Q5TG82_%7C_Q5TG83_%7C_Q6ZNE4_%7C_Q99411|Q13303|hematopoietic_%20_progenitor_%20_cell_%20_differentiation_%20_(GO:0002244)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|cytoplasm_%20_(GO:0005737)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_juxtaparanode_%20_region_%20_of_%20_axon_%20_(GO:0044224)_%7C_plasma_%20_membrane_%20_(GO:0005886)|potassium_%20_channel_%20_regulator_%20_activity_%20_(GO:0015459)_%7C_voltage-gated_%20_potassium_%20_channel_%20_activity_%20_(GO:0005249)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6162583 rs3810993 G A . PASS FUNCOTATION=[CHD5|hg19|chr1|6162583|6162583|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:6162583G>A|ENST00000262450.3|-|42|||||0.6458852867830424|CCAAGTGACCGACACTTGACC|CHD5_ENST00000378021.1_THREE_PRIME_UTR|||||||||||||||||||||||||366|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||AL117491|NM_015557.2|NP_056372.1|HGNC:16816|chromodomain_%20_helicase_%20_DNA_%20_binding_%20_protein_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.31|2016-10-05|||AF425231||26038|ENSG00000116254|11889561_%2C__%20_12592387|NM_015557|1305_%7C_88|NuRD_%20_complex_%7C_PHD_%20_finger_%20_proteins|CCDS57|OTTHUMG00000000952|26038|610771|NM_015557|Q8TDI0|ENSG00000116254|uc001amb.3|WRB_HUMAN||A8KAP8_%7C_A8MQ44_%7C_D3DSH9_%7C_O60740|O00258|tail-anchored_%20_membrane_%20_protein_%20_insertion_%20_into_%20_ER_%20_membrane_%20_(GO:0071816)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6171835 exm8579 G A . PASS FUNCOTATION=[CHD5|hg19|chr1|6171835|6171835|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:6171835G>A|ENST00000262450.3|-|36|5349|c.5249C>T|c.(5248-5250)aCg>aTg|p.T1750M|0.6209476309226932|CCAAGGATACGTCACGATGCC|CHD5_ENST00000378021.1_SPLICE_SITE_p.T607M|||||||||||||||||||||||||366|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||AL117491|NM_015557.2|NP_056372.1|HGNC:16816|chromodomain_%20_helicase_%20_DNA_%20_binding_%20_protein_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.31|2016-10-05|||AF425231||26038|ENSG00000116254|11889561_%2C__%20_12592387|NM_015557|1305_%7C_88|NuRD_%20_complex_%7C_PHD_%20_finger_%20_proteins|CCDS57|OTTHUMG00000000952|26038|610771|NM_015557|Q8TDI0|ENSG00000116254|uc001amb.3|WRB_HUMAN||A8KAP8_%7C_A8MQ44_%7C_D3DSH9_%7C_O60740|O00258|tail-anchored_%20_membrane_%20_protein_%20_insertion_%20_into_%20_ER_%20_membrane_%20_(GO:0071816)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6196869 rs2250358 A G . PASS FUNCOTATION=[CHD5|hg19|chr1|6196869|6196869|SILENT||SNP|A|A|G|g.chr1:6196869A>G|ENST00000262450.3|-|16|2593|c.2493T>C|c.(2491-2493)atT>atC|p.I831I|0.6034912718204489|TGGCCTGGTCAATGGTGATGA|CHD5_ENST00000378021.1_FIVE_PRIME_UTR|||||||||||||||||||||||||366|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||AL117491|NM_015557.2|NP_056372.1|HGNC:16816|chromodomain_%20_helicase_%20_DNA_%20_binding_%20_protein_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.31|2016-10-05|||AF425231||26038|ENSG00000116254|11889561_%2C__%20_12592387|NM_015557|1305_%7C_88|NuRD_%20_complex_%7C_PHD_%20_finger_%20_proteins|CCDS57|OTTHUMG00000000952|26038|610771|NM_015557|Q8TDI0|ENSG00000116254|uc001amb.3|WRB_HUMAN||A8KAP8_%7C_A8MQ44_%7C_D3DSH9_%7C_O60740|O00258|tail-anchored_%20_membrane_%20_protein_%20_insertion_%20_into_%20_ER_%20_membrane_%20_(GO:0071816)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6203883 exm8731 G A . PASS FUNCOTATION=[CHD5|hg19|chr1|6203883|6203883|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:6203883G>A|ENST00000262450.3|-|13|2143|c.2043C>T|c.(2041-2043)gaC>gaT|p.D681D|0.6084788029925187|CCCCACTCACGTCCACAATGG|CHD5_ENST00000378021.1_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||366|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||AL117491|NM_015557.2|NP_056372.1|HGNC:16816|chromodomain_%20_helicase_%20_DNA_%20_binding_%20_protein_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.31|2016-10-05|||AF425231||26038|ENSG00000116254|11889561_%2C__%20_12592387|NM_015557|1305_%7C_88|NuRD_%20_complex_%7C_PHD_%20_finger_%20_proteins|CCDS57|OTTHUMG00000000952|26038|610771|NM_015557|Q8TDI0|ENSG00000116254|uc001amb.3|WRB_HUMAN||A8KAP8_%7C_A8MQ44_%7C_D3DSH9_%7C_O60740|O00258|tail-anchored_%20_membrane_%20_protein_%20_insertion_%20_into_%20_ER_%20_membrane_%20_(GO:0071816)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6203883 exm8731 G A . PASS FUNCOTATION=[CHD5|hg19|chr1|6203883|6203883|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:6203883G>A|ENST00000262450.3|-|13|2143|c.2043C>T|c.(2041-2043)gaC>gaT|p.D681D|0.6084788029925187|CCCCACTCACGTCCACAATGG|CHD5_ENST00000378021.1_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||366|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||AL117491|NM_015557.2|NP_056372.1|HGNC:16816|chromodomain_%20_helicase_%20_DNA_%20_binding_%20_protein_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.31|2016-10-05|||AF425231||26038|ENSG00000116254|11889561_%2C__%20_12592387|NM_015557|1305_%7C_88|NuRD_%20_complex_%7C_PHD_%20_finger_%20_proteins|CCDS57|OTTHUMG00000000952|26038|610771|NM_015557|Q8TDI0|ENSG00000116254|uc001amb.3|WRB_HUMAN||A8KAP8_%7C_A8MQ44_%7C_D3DSH9_%7C_O60740|O00258|tail-anchored_%20_membrane_%20_protein_%20_insertion_%20_into_%20_ER_%20_membrane_%20_(GO:0071816)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6271096 exm8940 C T . PASS FUNCOTATION=[RNF207|hg19|chr1|6271096|6271096|NONSENSE||SNP|C|C|T|g.chr1:6271096C>T|ENST00000377939.4|+|12|1154|c.1027C>T|c.(1027-1029)Cga>Tga|p.R343*|0.6683291770573566|CAGTGACCACCGAGCTGAATT|RNF207_ENST00000377948.2_INTRON/RNF207_ENST00000483336.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC128237|NM_207396.2|NP_997279.2|HGNC:32947|ring_%20_finger_%20_protein_%20_207|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf188|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_188"|FLJ46380_%2C__%20_FLJ32096|"OTTHUMG00000001089"|1p36.31|2015-08-25|||AK128246||388591|ENSG00000158286||NM_207396|58|Ring_%20_finger_%20_proteins|CCDS59|OTTHUMG00000001089|388591|616923|NM_207396|Q6ZRF8|ENSG00000158286|uc001amg.4|RN207_HUMAN||A2VCM8_%7C_B4DFR6_%7C_Q5TGS6_%7C_Q6ZS63_%7C_Q96MP2|Q6ZRF8||intracellular_%20_(GO:0005622)|zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6271178 exm8946 C T . PASS FUNCOTATION=[RNF207|hg19|chr1|6271178|6271178|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:6271178C>T|ENST00000377939.4|+|12|1236|c.1109C>T|c.(1108-1110)aCg>aTg|p.T370M|0.6608478802992519|GGTGCTAACACGTGAGCAGCA|RNF207_ENST00000377948.2_INTRON/RNF207_ENST00000483336.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC128237|NM_207396.2|NP_997279.2|HGNC:32947|ring_%20_finger_%20_protein_%20_207|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf188|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_188"|FLJ46380_%2C__%20_FLJ32096|"OTTHUMG00000001089"|1p36.31|2015-08-25|||AK128246||388591|ENSG00000158286||NM_207396|58|Ring_%20_finger_%20_proteins|CCDS59|OTTHUMG00000001089|388591|616923|NM_207396|Q6ZRF8|ENSG00000158286|uc001amg.4|RN207_HUMAN||A2VCM8_%7C_B4DFR6_%7C_Q5TGS6_%7C_Q6ZS63_%7C_Q96MP2|Q6ZRF8||intracellular_%20_(GO:0005622)|zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6272342 exm8962 C T . PASS FUNCOTATION=[RNF207|hg19|chr1|6272342|6272342|NONSENSE||SNP|C|C|T|g.chr1:6272342C>T|ENST00000377939.4|+|14|1475|c.1348C>T|c.(1348-1350)Cga>Tga|p.R450*|0.5860349127182045|GGAGCTGCACCGAGACCTCAC|RNF207_ENST00000377948.2_THREE_PRIME_UTR/RNF207_ENST00000483336.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC128237|NM_207396.2|NP_997279.2|HGNC:32947|ring_%20_finger_%20_protein_%20_207|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf188|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_188"|FLJ46380_%2C__%20_FLJ32096|"OTTHUMG00000001089"|1p36.31|2015-08-25|||AK128246||388591|ENSG00000158286||NM_207396|58|Ring_%20_finger_%20_proteins|CCDS59|OTTHUMG00000001089|388591|616923|NM_207396|Q6ZRF8|ENSG00000158286|uc001amg.4|RN207_HUMAN||A2VCM8_%7C_B4DFR6_%7C_Q5TGS6_%7C_Q6ZS63_%7C_Q96MP2|Q6ZRF8||intracellular_%20_(GO:0005622)|zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6272793 exm1853088 G A . PASS FUNCOTATION=[RNF207|hg19|chr1|6272793|6272793|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:6272793G>A|ENST00000377939.4|+|15|1661|c.1534G>A|c.(1534-1536)Gcc>Acc|p.A512T|0.5261845386533666|GATTTATGAAGGTTCCAGACA|RNF207_ENST00000377948.2_THREE_PRIME_UTR/RNF207_ENST00000483336.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC128237|NM_207396.2|NP_997279.2|HGNC:32947|ring_%20_finger_%20_protein_%20_207|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf188|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_188"|FLJ46380_%2C__%20_FLJ32096|"OTTHUMG00000001089"|1p36.31|2015-08-25|||AK128246||388591|ENSG00000158286||NM_207396|58|Ring_%20_finger_%20_proteins|CCDS59|OTTHUMG00000001089|388591|616923|NM_207396|Q6ZRF8|ENSG00000158286|uc001amg.4|RN207_HUMAN||A2VCM8_%7C_B4DFR6_%7C_Q5TGS6_%7C_Q6ZS63_%7C_Q96MP2|Q6ZRF8||intracellular_%20_(GO:0005622)|zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6296998 psy_rs12135309 C T . PASS FUNCOTATION=[ICMT|hg19|chr1|6296998|6296998|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:6296998C>T|ENST00000343813.5|-||||||0.543640897755611|CCCGCCACTGCGCCCGTCTTA|ICMT_ENST00000362035.3_FIVE_PRIME_FLANK/LINC00337_ENST00000441724.1_RNA/LINC00337_ENST00000429480.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR541711|NM_012405.3|NP_036537.1|HGNC:5350|isoprenylcysteine_%20_carboxyl_%20_methyltransferase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||PCCMT_%2C__%20_HSTE14_%2C__%20_PPMT|"protein-S-isoprenylcysteine_%20_O-methyltransferase"|1p36.31|2016-10-05|||AF064084|2.1.1.100|23463|ENSG00000116237|9614111_%2C__%20_10441503|NM_012405|||CCDS61|OTTHUMG00000001254|23463|605851|NM_012405|O60725|ENSG00000116237|uc001amk.4|ICMT_HUMAN||Q6FHT0|O60725|C-terminal_%20_protein_%20_methylation_%20_(GO:0006481)_%7C_cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)_%7C_in_%20_utero_%20_embryonic_%20_development_%20_(GO:0001701)_%7C_liver_%20_development_%20_(GO:0001889)_%7C_multicellular_%20_organism_%20_growth_%20_(GO:0035264)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_protein_%20_targeting_%20_to_%20_membrane_%20_(GO:0006612)_%7C_regulation_%20_of_%20_Ras_%20_protein_%20_signal_%20_transduction_%20_(GO:0046578)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)|cAMP_%20_response_%20_element_%20_binding_%20_protein_%20_binding_%20_(GO:0008140)_%7C_protein_%20_C-terminal_%20_carboxyl_%20_O-methyltransferase_%20_activity_%20_(GO:0003880)_%7C_protein_%20_C-terminal_%20_S-isoprenylcysteine_%20_carboxyl_%20_O-methyltransferase_%20_activity_%20_(GO:0004671)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6308929 psy_rs12568183 C A . PASS FUNCOTATION=[GPR153|hg19|chr1|6308929|6308929|THREE_PRIME_UTR||SNP|C|C|A|g.chr1:6308929C>A|ENST00000377893.2|-|6|||||0.6034912718204489|ACCCTCCCCCCCCCCGAAGGG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR627473|NM_207370.2|NP_997253.2|HGNC:23618|G_%20_protein-coupled_%20_receptor_%20_153|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||PGR1||1p36.31|2015-08-25|||AY255529||387509|ENSG00000158292|12679517||262|G_%20_protein-coupled_%20_receptors_%2C__%20_Class_%20_A_%20_orphans|CCDS64|OTTHUMG00000001272|387509|614269|NM_207370|Q6NV75|ENSG00000158292|uc001amp.2|GP153_HUMAN||Q5TGR5_%7C_Q6AHW8_%7C_Q86SP8|Q6NV75||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6378607 exm2252586 G A . PASS FUNCOTATION=[ACOT7|hg19|chr1|6378607|6378607|SILENT||SNP|G|G|A|g.chr1:6378607G>A|ENST00000377855.2|-|6|834|c.687C>T|c.(685-687)agC>agT|p.S229S|0.5236907730673317|GGTGGATCAAGCTGGACTGGC|ACOT7_ENST00000377845.3_SILENT_p.S199S/ACOT7_ENST00000608083.1_SILENT_p.S187S/ACOT7_ENST00000361521.4_SILENT_p.S219S/ACOT7_ENST00000377842.3_SILENT_p.S178S/ACOT7_ENST00000541130.1_SILENT_p.S199S/ACOT7_ENST00000545482.1_SILENT_p.S114S|GBM(74_%3B_673_%20_1226_%20_4974_%20_11850_%20_13190)||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U91316|NM_181864.2|NP_863654.1|HGNC:24157|acyl-CoA_%20_thioesterase_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||BACH_%2C__%20_ACH1_%2C__%20_ACT_%2C__%20_CTE-II_%2C__%20_LACH1_%2C__%20_MGC1126_%2C__%20_hBACH|"brain_%20_acyl_%20_CoA_%20_hydrolase"|1p36.31|2016-10-05|||AB074417||11332|ENSG00000097021|10578051_%2C__%20_16103133_%2C__%20_16940157|NM_007274|41|Acyl-CoA_%20_thioesterases|CCDS65_%2C__%20_CCDS66_%2C__%20_CCDS67_%2C__%20_CCDS30573|OTTHUMG00000001295|11332|602587|NM_007274|O00154|ENSG00000097021|uc001ams.4|BACH_HUMAN||A8K0K7_%7C_A8K232_%7C_A8K6B8_%7C_A8K837_%7C_B3KQ12_%7C_O43703_%7C_Q53Y78_%7C_Q5JYL2_%7C_Q5JYL3_%7C_Q5JYL4_%7C_Q5JYL5_%7C_Q5JYL6_%7C_Q5TGR4_%7C_Q9UJM9_%7C_Q9Y539_%7C_Q9Y540|O00154|coenzyme_%20_A_%20_biosynthetic_%20_process_%20_(GO:0015937)_%7C_fatty_%20_acid_%20_catabolic_%20_process_%20_(GO:0009062)_%7C_long-chain_%20_fatty-acyl-CoA_%20_catabolic_%20_process_%20_(GO:0036116)_%7C_medium-chain_%20_fatty_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0051792)_%7C_medium-chain_%20_fatty-acyl-CoA_%20_catabolic_%20_process_%20_(GO:0036114)_%7C_palmitic_%20_acid_%20_biosynthetic_%20_process_%20_(GO:1900535)|cell_%20_body_%20_(GO:0044297)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)_%7C_neuron_%20_projection_%20_(GO:0043005)_%7C_nucleus_%20_(GO:0005634)|carboxylic_%20_ester_%20_hydrolase_%20_activity_%20_(GO:0052689)_%7C_fatty-acyl-CoA_%20_binding_%20_(GO:0000062)_%7C_long-chain_%20_fatty_%20_acyl-CoA_%20_binding_%20_(GO:0036042)_%7C_palmitoyl-CoA_%20_hydrolase_%20_activity_%20_(GO:0016290)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6378607 exm9186 G A . PASS FUNCOTATION=[ACOT7|hg19|chr1|6378607|6378607|SILENT||SNP|G|G|A|g.chr1:6378607G>A|ENST00000377855.2|-|6|834|c.687C>T|c.(685-687)agC>agT|p.S229S|0.5236907730673317|GGTGGATCAAGCTGGACTGGC|ACOT7_ENST00000377845.3_SILENT_p.S199S/ACOT7_ENST00000608083.1_SILENT_p.S187S/ACOT7_ENST00000361521.4_SILENT_p.S219S/ACOT7_ENST00000377842.3_SILENT_p.S178S/ACOT7_ENST00000541130.1_SILENT_p.S199S/ACOT7_ENST00000545482.1_SILENT_p.S114S|GBM(74_%3B_673_%20_1226_%20_4974_%20_11850_%20_13190)||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U91316|NM_181864.2|NP_863654.1|HGNC:24157|acyl-CoA_%20_thioesterase_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||BACH_%2C__%20_ACH1_%2C__%20_ACT_%2C__%20_CTE-II_%2C__%20_LACH1_%2C__%20_MGC1126_%2C__%20_hBACH|"brain_%20_acyl_%20_CoA_%20_hydrolase"|1p36.31|2016-10-05|||AB074417||11332|ENSG00000097021|10578051_%2C__%20_16103133_%2C__%20_16940157|NM_007274|41|Acyl-CoA_%20_thioesterases|CCDS65_%2C__%20_CCDS66_%2C__%20_CCDS67_%2C__%20_CCDS30573|OTTHUMG00000001295|11332|602587|NM_007274|O00154|ENSG00000097021|uc001ams.4|BACH_HUMAN||A8K0K7_%7C_A8K232_%7C_A8K6B8_%7C_A8K837_%7C_B3KQ12_%7C_O43703_%7C_Q53Y78_%7C_Q5JYL2_%7C_Q5JYL3_%7C_Q5JYL4_%7C_Q5JYL5_%7C_Q5JYL6_%7C_Q5TGR4_%7C_Q9UJM9_%7C_Q9Y539_%7C_Q9Y540|O00154|coenzyme_%20_A_%20_biosynthetic_%20_process_%20_(GO:0015937)_%7C_fatty_%20_acid_%20_catabolic_%20_process_%20_(GO:0009062)_%7C_long-chain_%20_fatty-acyl-CoA_%20_catabolic_%20_process_%20_(GO:0036116)_%7C_medium-chain_%20_fatty_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0051792)_%7C_medium-chain_%20_fatty-acyl-CoA_%20_catabolic_%20_process_%20_(GO:0036114)_%7C_palmitic_%20_acid_%20_biosynthetic_%20_process_%20_(GO:1900535)|cell_%20_body_%20_(GO:0044297)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)_%7C_neuron_%20_projection_%20_(GO:0043005)_%7C_nucleus_%20_(GO:0005634)|carboxylic_%20_ester_%20_hydrolase_%20_activity_%20_(GO:0052689)_%7C_fatty-acyl-CoA_%20_binding_%20_(GO:0000062)_%7C_long-chain_%20_fatty_%20_acyl-CoA_%20_binding_%20_(GO:0036042)_%7C_palmitoyl-CoA_%20_hydrolase_%20_activity_%20_(GO:0016290)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6409810 exm2233698 C A . PASS FUNCOTATION=[ACOT7|hg19|chr1|6409810|6409810|SPLICE_SITE|MISSENSE|SNP|C|C|A|g.chr1:6409810C>A|ENST00000377855.2|-|2|437|c.290G>T|c.(289-291)gGg>gTg|p.G97V|0.6109725685785536|GACCCTTACCCCGTTCTGGCT|ACOT7_ENST00000377845.3_SPLICE_SITE_p.G67V/ACOT7_ENST00000608083.1_SPLICE_SITE_p.G55V/ACOT7_ENST00000361521.4_SPLICE_SITE_p.G87V/ACOT7_ENST00000377842.3_SPLICE_SITE_p.G46V/ACOT7_ENST00000541130.1_SPLICE_SITE_p.G67V/ACOT7_ENST00000545482.1_INTRON|GBM(74_%3B_673_%20_1226_%20_4974_%20_11850_%20_13190)||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U91316|NM_181864.2|NP_863654.1|HGNC:24157|acyl-CoA_%20_thioesterase_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||BACH_%2C__%20_ACH1_%2C__%20_ACT_%2C__%20_CTE-II_%2C__%20_LACH1_%2C__%20_MGC1126_%2C__%20_hBACH|"brain_%20_acyl_%20_CoA_%20_hydrolase"|1p36.31|2016-10-05|||AB074417||11332|ENSG00000097021|10578051_%2C__%20_16103133_%2C__%20_16940157|NM_007274|41|Acyl-CoA_%20_thioesterases|CCDS65_%2C__%20_CCDS66_%2C__%20_CCDS67_%2C__%20_CCDS30573|OTTHUMG00000001295|11332|602587|NM_007274|O00154|ENSG00000097021|uc001ams.4|BACH_HUMAN||A8K0K7_%7C_A8K232_%7C_A8K6B8_%7C_A8K837_%7C_B3KQ12_%7C_O43703_%7C_Q53Y78_%7C_Q5JYL2_%7C_Q5JYL3_%7C_Q5JYL4_%7C_Q5JYL5_%7C_Q5JYL6_%7C_Q5TGR4_%7C_Q9UJM9_%7C_Q9Y539_%7C_Q9Y540|O00154|coenzyme_%20_A_%20_biosynthetic_%20_process_%20_(GO:0015937)_%7C_fatty_%20_acid_%20_catabolic_%20_process_%20_(GO:0009062)_%7C_long-chain_%20_fatty-acyl-CoA_%20_catabolic_%20_process_%20_(GO:0036116)_%7C_medium-chain_%20_fatty_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0051792)_%7C_medium-chain_%20_fatty-acyl-CoA_%20_catabolic_%20_process_%20_(GO:0036114)_%7C_palmitic_%20_acid_%20_biosynthetic_%20_process_%20_(GO:1900535)|cell_%20_body_%20_(GO:0044297)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)_%7C_neuron_%20_projection_%20_(GO:0043005)_%7C_nucleus_%20_(GO:0005634)|carboxylic_%20_ester_%20_hydrolase_%20_activity_%20_(GO:0052689)_%7C_fatty-acyl-CoA_%20_binding_%20_(GO:0000062)_%7C_long-chain_%20_fatty_%20_acyl-CoA_%20_binding_%20_(GO:0036042)_%7C_palmitoyl-CoA_%20_hydrolase_%20_activity_%20_(GO:0016290)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6529605 exm9556 A G . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6529605|6529605|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:6529605A>G|ENST00000377748.1|-|18|2661|c.2163T>C|c.(2161-2163)ccT>ccC|p.P721P|0.6084788029925187|GCTCCTTACCAGGGTCCCGTA|PLEKHG5_ENST00000340850.5_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000400913.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000377732.1_SPLICE_SITE_p.P681P/PLEKHG5_ENST00000400915.3_SPLICE_SITE_p.P700P/PLEKHG5_ENST00000377728.3_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000377740.3_SPLICE_SITE_p.P721P/PLEKHG5_ENST00000377725.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000544978.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000537245.1_SPLICE_SITE_p.P723P/PLEKHG5_ENST00000377737.2_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000535355.1_SPLICE_SITE_p.P713P/TNFRSF25_ENST00000348333.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000351748.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000351959.5_FIVE_PRIME_FLANK/TNFRSF25_ENST00000356876.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000377782.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000461703.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||304|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_stomach(121)|||||||CH471130|NM_198681.3|NP_941374.2|HGNC:29105|pleckstrin_%20_homology_%20_and_%20_RhoGEF_%20_domain_%20_containing_%20_G5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_G_%20_(with_%20_RhoGef_%20_domain)_%20_member_%20_5"|KIAA0720_%2C__%20_Syx_%2C__%20_GEF720_%2C__%20_Tech|"synectin-binding_%20_guanine_%20_exchange_%20_factor"|1p36.31|2017-03-24|2005-08-09|2015-11-18|AK024676||57449|ENSG00000171680|17564964|NM_020631|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS79_%2C__%20_CCDS41240_%2C__%20_CCDS41241_%2C__%20_CCDS57967_%2C__%20_CCDS57968_%2C__%20_CCDS57969|OTTHUMG00000000905|57449|611101|NM_001042663|O94827|ENSG00000171680|uc001anm.3|PKHG5_HUMAN||B3KU07_%7C_B7Z2M3_%7C_B7Z5X2_%7C_F5GZ21_%7C_F5H1I0_%7C_Q5SY17_%7C_Q5T8W5_%7C_Q5T8W9_%7C_Q6ZNM0_%7C_Q7Z436_%7C_Q86YD8_%7C_Q96BS1|O94827|apoptotic_%20_signaling_%20_pathway_%20_(GO:0097190)_%7C_endothelial_%20_cell_%20_chemotaxis_%20_(GO:0035767)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endocytic_%20_vesicle_%20_(GO:0030139)_%7C_lamellipodium_%20_(GO:0030027)_%7C_plasma_%20_membrane_%20_(GO:0005886)|Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|PLEKHG5:57449|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|150807400|6529605|false|true|0|false|0|true|0.997871_%2C_0.00212927|false|false|false|SNV|true|0x050200000305040426000100|1|false|134|rs150807400|] +1 6529605 exm9556 A G . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6529605|6529605|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:6529605A>G|ENST00000377748.1|-|18|2661|c.2163T>C|c.(2161-2163)ccT>ccC|p.P721P|0.6084788029925187|GCTCCTTACCAGGGTCCCGTA|PLEKHG5_ENST00000340850.5_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000400913.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000377732.1_SPLICE_SITE_p.P681P/PLEKHG5_ENST00000400915.3_SPLICE_SITE_p.P700P/PLEKHG5_ENST00000377728.3_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000377740.3_SPLICE_SITE_p.P721P/PLEKHG5_ENST00000377725.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000544978.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000537245.1_SPLICE_SITE_p.P723P/PLEKHG5_ENST00000377737.2_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000535355.1_SPLICE_SITE_p.P713P/TNFRSF25_ENST00000348333.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000351748.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000351959.5_FIVE_PRIME_FLANK/TNFRSF25_ENST00000356876.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000377782.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000461703.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||304|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_stomach(121)|||||||CH471130|NM_198681.3|NP_941374.2|HGNC:29105|pleckstrin_%20_homology_%20_and_%20_RhoGEF_%20_domain_%20_containing_%20_G5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_G_%20_(with_%20_RhoGef_%20_domain)_%20_member_%20_5"|KIAA0720_%2C__%20_Syx_%2C__%20_GEF720_%2C__%20_Tech|"synectin-binding_%20_guanine_%20_exchange_%20_factor"|1p36.31|2017-03-24|2005-08-09|2015-11-18|AK024676||57449|ENSG00000171680|17564964|NM_020631|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS79_%2C__%20_CCDS41240_%2C__%20_CCDS41241_%2C__%20_CCDS57967_%2C__%20_CCDS57968_%2C__%20_CCDS57969|OTTHUMG00000000905|57449|611101|NM_001042663|O94827|ENSG00000171680|uc001anm.3|PKHG5_HUMAN||B3KU07_%7C_B7Z2M3_%7C_B7Z5X2_%7C_F5GZ21_%7C_F5H1I0_%7C_Q5SY17_%7C_Q5T8W5_%7C_Q5T8W9_%7C_Q6ZNM0_%7C_Q7Z436_%7C_Q86YD8_%7C_Q96BS1|O94827|apoptotic_%20_signaling_%20_pathway_%20_(GO:0097190)_%7C_endothelial_%20_cell_%20_chemotaxis_%20_(GO:0035767)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endocytic_%20_vesicle_%20_(GO:0030139)_%7C_lamellipodium_%20_(GO:0030027)_%7C_plasma_%20_membrane_%20_(GO:0005886)|Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|PLEKHG5:57449|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|150807400|6529605|false|true|0|false|0|true|0.997871_%2C_0.00212927|false|false|false|SNV|true|0x050200000305040426000100|1|false|134|rs150807400|] +1 6534226 exm9636 T C . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6534226|6534226|SPLICE_SITE|INTRON|SNP|T|T|C|g.chr1:6534226T>C|ENST00000377748.1|-|||c.e8+2A>G|c.e8-2||0.6783042394014963|TGGCTGGGGCTGCATGTGGGG|PLEKHG5_ENST00000340850.5_SPLICE_SITE/PLEKHG5_ENST00000400913.1_SPLICE_SITE/PLEKHG5_ENST00000377732.1_SPLICE_SITE/PLEKHG5_ENST00000400915.3_SPLICE_SITE/PLEKHG5_ENST00000377728.3_SPLICE_SITE/PLEKHG5_ENST00000377740.3_SPLICE_SITE/PLEKHG5_ENST00000377725.1_SPLICE_SITE/PLEKHG5_ENST00000544978.1_SPLICE_SITE/PLEKHG5_ENST00000537245.1_SPLICE_SITE/PLEKHG5_ENST00000377737.2_SPLICE_SITE/PLEKHG5_ENST00000535355.1_SPLICE_SITE|||||||||||||||||||||||||304|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_stomach(121)|||||||CH471130|NM_198681.3|NP_941374.2|HGNC:29105|pleckstrin_%20_homology_%20_and_%20_RhoGEF_%20_domain_%20_containing_%20_G5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_G_%20_(with_%20_RhoGef_%20_domain)_%20_member_%20_5"|KIAA0720_%2C__%20_Syx_%2C__%20_GEF720_%2C__%20_Tech|"synectin-binding_%20_guanine_%20_exchange_%20_factor"|1p36.31|2017-03-24|2005-08-09|2015-11-18|AK024676||57449|ENSG00000171680|17564964|NM_020631|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS79_%2C__%20_CCDS41240_%2C__%20_CCDS41241_%2C__%20_CCDS57967_%2C__%20_CCDS57968_%2C__%20_CCDS57969|OTTHUMG00000000905|57449|611101|NM_001042663|O94827|ENSG00000171680|uc001anm.3|PKHG5_HUMAN||B3KU07_%7C_B7Z2M3_%7C_B7Z5X2_%7C_F5GZ21_%7C_F5H1I0_%7C_Q5SY17_%7C_Q5T8W5_%7C_Q5T8W9_%7C_Q6ZNM0_%7C_Q7Z436_%7C_Q86YD8_%7C_Q96BS1|O94827|apoptotic_%20_signaling_%20_pathway_%20_(GO:0097190)_%7C_endothelial_%20_cell_%20_chemotaxis_%20_(GO:0035767)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endocytic_%20_vesicle_%20_(GO:0030139)_%7C_lamellipodium_%20_(GO:0030027)_%7C_plasma_%20_membrane_%20_(GO:0005886)|Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|true|0.9998_%2C_0.0001997|false|false|0||false|false|false|PLEKHG5:57449|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|144750655|6534226|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000200005040436000100|1|false|134|rs144750655|] +1 6550505 exm2233725 C T . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6550505|6550505|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:6550505C>T|ENST00000340850.5|-|1|||||0.6633416458852868|CGCGACTCACCTAGGAACAGG|PLEKHG5_ENST00000377725.1_FIVE_PRIME_UTR/PLEKHG5_ENST00000377748.1_INTRON/PLEKHG5_ENST00000377732.1_INTRON/PLEKHG5_ENST00000400915.3_INTRON/PLEKHG5_ENST00000377728.3_INTRON/PLEKHG5_ENST00000377740.3_INTRON/PLEKHG5_ENST00000544978.1_INTRON/PLEKHG5_ENST00000537245.1_INTRON/PLEKHG5_ENST00000377737.2_INTRON/PLEKHG5_ENST00000400913.1_FIVE_PRIME_FLANK/PLEKHG5_ENST00000535355.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||304|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_stomach(121)|||||||CH471130|NM_001265594.1|NP_001252523.1|HGNC:29105|pleckstrin_%20_homology_%20_and_%20_RhoGEF_%20_domain_%20_containing_%20_G5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_G_%20_(with_%20_RhoGef_%20_domain)_%20_member_%20_5"|KIAA0720_%2C__%20_Syx_%2C__%20_GEF720_%2C__%20_Tech|"synectin-binding_%20_guanine_%20_exchange_%20_factor"|1p36.31|2017-03-24|2005-08-09|2015-11-18|AK024676||57449|ENSG00000171680|17564964|NM_020631|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS79_%2C__%20_CCDS41240_%2C__%20_CCDS41241_%2C__%20_CCDS57967_%2C__%20_CCDS57968_%2C__%20_CCDS57969|OTTHUMG00000000905|57449|611101|NM_001042663|O94827|ENSG00000171680|uc001anm.3|PKHG5_HUMAN||B3KU07_%7C_B7Z2M3_%7C_B7Z5X2_%7C_F5GZ21_%7C_F5H1I0_%7C_Q5SY17_%7C_Q5T8W5_%7C_Q5T8W9_%7C_Q6ZNM0_%7C_Q7Z436_%7C_Q86YD8_%7C_Q96BS1|O94827|apoptotic_%20_signaling_%20_pathway_%20_(GO:0097190)_%7C_endothelial_%20_cell_%20_chemotaxis_%20_(GO:0035767)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endocytic_%20_vesicle_%20_(GO:0030139)_%7C_lamellipodium_%20_(GO:0030027)_%7C_plasma_%20_membrane_%20_(GO:0005886)|Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false|0.8051_%2C_0.1949|false|false|1||false|true|true|PLEKHG5:57449|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11806429|6550505|false|false|0|true|0|false|0.824748_%2C_0.175252|false|false|true|SNV|true|0x05010048000517053f000100|1|false|120|rs11806429|] +1 6579843 rs1010584 C T . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6579843|6579843|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:6579843C>T|ENST00000377748.1|-|1|||||0.5860349127182045|ACTTCGCAGCCGCCGCTCACA|PLEKHG5_ENST00000377740.3_FIVE_PRIME_UTR/PLEKHG5_ENST00000377737.2_FIVE_PRIME_UTR|||||||||||||||||||||||||304|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_stomach(121)|||||||CH471130|NM_198681.3|NP_941374.2|HGNC:29105|pleckstrin_%20_homology_%20_and_%20_RhoGEF_%20_domain_%20_containing_%20_G5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_G_%20_(with_%20_RhoGef_%20_domain)_%20_member_%20_5"|KIAA0720_%2C__%20_Syx_%2C__%20_GEF720_%2C__%20_Tech|"synectin-binding_%20_guanine_%20_exchange_%20_factor"|1p36.31|2017-03-24|2005-08-09|2015-11-18|AK024676||57449|ENSG00000171680|17564964|NM_020631|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS79_%2C__%20_CCDS41240_%2C__%20_CCDS41241_%2C__%20_CCDS57967_%2C__%20_CCDS57968_%2C__%20_CCDS57969|OTTHUMG00000000905|57449|611101|NM_001042663|O94827|ENSG00000171680|uc001anm.3|PKHG5_HUMAN||B3KU07_%7C_B7Z2M3_%7C_B7Z5X2_%7C_F5GZ21_%7C_F5H1I0_%7C_Q5SY17_%7C_Q5T8W5_%7C_Q5T8W9_%7C_Q6ZNM0_%7C_Q7Z436_%7C_Q86YD8_%7C_Q96BS1|O94827|apoptotic_%20_signaling_%20_pathway_%20_(GO:0097190)_%7C_endothelial_%20_cell_%20_chemotaxis_%20_(GO:0035767)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endocytic_%20_vesicle_%20_(GO:0030139)_%7C_lamellipodium_%20_(GO:0030027)_%7C_plasma_%20_membrane_%20_(GO:0005886)|Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false|0.2646_%2C_0.7354|false|false|1||false|true|false|PLEKHG5:57449|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|1010584|6579843|false|false|0|true|0|false|0.306271_%2C_0.693729|false|false|true|SNV|true|0x05010040000515053f000100|1|false|86|rs1010584|] +1 6592659 newrs146978611 G A . PASS FUNCOTATION=[NOL9|hg19|chr1|6592659|6592659|NONSENSE||SNP|G|G|A|g.chr1:6592659G>A|ENST00000377705.5|-|8|1432|c.1399C>T|c.(1399-1401)Cga>Tga|p.R467*|0.44139650872817954|CTGAAACGTCGATTTCTCATC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112278|NM_024654.4|NP_078930.3|HGNC:26265|nucleolar_%20_protein_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ23323_%2C__%20_NET6_%2C__%20_Grc3|"polynucleotide_%20_5'-kinase"|1p36.31|2014-11-19|||AK091284||79707|ENSG00000162408|21063389|NM_024654|1301|5FMC_%20_ribosome_%20_biogenesis_%20_complex|CCDS80|OTTHUMG00000000904|79707||NM_024654|Q5SY16|ENSG00000162408|uc001ans.4|NOL9_HUMAN||Q2NL84_%7C_Q4VBY3_%7C_Q6P472_%7C_Q7L4D6_%7C_Q96EE0_%7C_Q9H5L4|Q5SY16|maturation_%20_of_%20_5.8S_%20_rRNA_%20_(GO:0000460)|membrane_%20_(GO:0016020)_%7C_nucleolus_%20_(GO:0005730)|ATP_%20_binding_%20_(GO:0005524)_%7C_polynucleotide_%20_5'-hydroxyl-kinase_%20_activity_%20_(GO:0051731)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6615467 exm9789 C T . PASS FUNCOTATION=[TAS1R1|hg19|chr1|6615467|6615467|NONSENSE||SNP|C|C|T|g.chr1:6615467C>T|ENST00000333172.6|+|1|227|c.34C>T|c.(34-36)Cag>Tag|p.Q12*|0.6134663341645885|GGTCGGCCTGCAGCTTCTCAT|TAS1R1_ENST00000351136.3_NONSENSE_p.Q12*/TAS1R1_ENST00000328191.4_NONSENSE_p.Q12*/NOL9_ENST00000377705.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BK000153|NM_138697.3|NP_619642.2|HGNC:14448|taste_%20_1_%20_receptor_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GPR70|"G_%20_protein-coupled_%20_receptor_%20_70"_%2C__%20_"taste_%20_receptor_%2C__%20_type_%20_1_%2C__%20_member_%20_1"|T1R1_%2C__%20_TR1||1p36.31|2015-12-16||2015-12-16|||80835|ENSG00000173662|12856281_%2C__%20_11894099|NM_138697|1161|Taste_%20_1_%20_receptors|CCDS81_%2C__%20_CCDS82|OTTHUMG00000001441|80835|606225|NM_138697|Q7RTX1|ENSG00000173662|uc001ant.4|TS1R1_HUMAN||B2RMX0_%7C_Q5SY22_%7C_Q5SY24_%7C_Q8NGZ7_%7C_Q8TDJ7_%7C_Q8TDJ8_%7C_Q8TDJ9_%7C_Q8TDK0|Q7RTX1|detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050912)_%7C_sensory_%20_perception_%20_of_%20_umami_%20_taste_%20_(GO:0050917)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|protein_%20_heterodimerization_%20_activity_%20_(GO:0046982)_%7C_taste_%20_receptor_%20_activity_%20_(GO:0008527)||||true|false|0.9978_%2C_0.002196|false|false|1||false|false|false|TAS1R1:80835_%7C_NOL9:79707|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|149094445|6615467|false|false|0|false|0|true|0.99739_%2C_0.00261007|false|false|false|SNV|true|0x050000020705040436000100|1|false|134|rs149094445|] +1 6635345 indel.549 TC T . PASS FUNCOTATION=[TAS1R1|hg19|chr1|6635346|6635346|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:6635346delC|ENST00000333172.6|+|3|1346|c.1154delC|c.(1153-1155)tctfs|p.S385fs|0.600997506234414|TCCATGAGTTCTGCCTACAAC|TAS1R1_ENST00000351136.3_INTRON/TAS1R1_ENST00000328191.4_FRAME_SHIFT_DEL_p.S385fs/ZBTB48_ENST00000377674.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BK000153|NM_138697.3|NP_619642.2|HGNC:14448|taste_%20_1_%20_receptor_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GPR70|"G_%20_protein-coupled_%20_receptor_%20_70"_%2C__%20_"taste_%20_receptor_%2C__%20_type_%20_1_%2C__%20_member_%20_1"|T1R1_%2C__%20_TR1||1p36.31|2015-12-16||2015-12-16|||80835|ENSG00000173662|12856281_%2C__%20_11894099|NM_138697|1161|Taste_%20_1_%20_receptors|CCDS81_%2C__%20_CCDS82|OTTHUMG00000001441|80835|606225|NM_138697|Q7RTX1|ENSG00000173662|uc001ant.4|TS1R1_HUMAN||B2RMX0_%7C_Q5SY22_%7C_Q5SY24_%7C_Q8NGZ7_%7C_Q8TDJ7_%7C_Q8TDJ8_%7C_Q8TDJ9_%7C_Q8TDK0|Q7RTX1|detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050912)_%7C_sensory_%20_perception_%20_of_%20_umami_%20_taste_%20_(GO:0050917)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|protein_%20_heterodimerization_%20_activity_%20_(GO:0046982)_%7C_taste_%20_receptor_%20_activity_%20_(GO:0008527)||||true|false||false|false|||false|false|false|TAS1R1:80835|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|867182312|6635346|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|147|rs867182312|] +1 6635448 exm9863 G A . PASS FUNCOTATION=[TAS1R1|hg19|chr1|6635448|6635448|NONSENSE||SNP|G|G|A|g.chr1:6635448G>A|ENST00000333172.6|+|3|1449|c.1256G>A|c.(1255-1257)tGg>tAg|p.W419*|0.5511221945137157|GTCTACCCCTGGCAGGTAAGA|TAS1R1_ENST00000351136.3_INTRON/TAS1R1_ENST00000328191.4_NONSENSE_p.W419*/ZBTB48_ENST00000377674.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BK000153|NM_138697.3|NP_619642.2|HGNC:14448|taste_%20_1_%20_receptor_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GPR70|"G_%20_protein-coupled_%20_receptor_%20_70"_%2C__%20_"taste_%20_receptor_%2C__%20_type_%20_1_%2C__%20_member_%20_1"|T1R1_%2C__%20_TR1||1p36.31|2015-12-16||2015-12-16|||80835|ENSG00000173662|12856281_%2C__%20_11894099|NM_138697|1161|Taste_%20_1_%20_receptors|CCDS81_%2C__%20_CCDS82|OTTHUMG00000001441|80835|606225|NM_138697|Q7RTX1|ENSG00000173662|uc001ant.4|TS1R1_HUMAN||B2RMX0_%7C_Q5SY22_%7C_Q5SY24_%7C_Q8NGZ7_%7C_Q8TDJ7_%7C_Q8TDJ8_%7C_Q8TDJ9_%7C_Q8TDK0|Q7RTX1|detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050912)_%7C_sensory_%20_perception_%20_of_%20_umami_%20_taste_%20_(GO:0050917)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|protein_%20_heterodimerization_%20_activity_%20_(GO:0046982)_%7C_taste_%20_receptor_%20_activity_%20_(GO:0008527)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|TAS1R1:80835|false|true|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|140193828|6635448|false|true|0|false|0|false|0.999141_%2C_0.000858575|false|false|false|SNV|true|0x050200080605040436000100|1|false|134|rs140193828|] +1 6639436 exm9930 G A . PASS FUNCOTATION=[TAS1R1|hg19|chr1|6639436|6639436|NONSENSE||SNP|G|G|A|g.chr1:6639436G>A|ENST00000333172.6|+|6|2511|c.2318G>A|c.(2317-2319)tGg>tAg|p.W773*|0.5760598503740648|TTCGTGTCCTGGATCGCCTTC|TAS1R1_ENST00000351136.3_NONSENSE_p.W519*/TAS1R1_ENST00000328191.4_THREE_PRIME_UTR/ZBTB48_ENST00000377674.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BK000153|NM_138697.3|NP_619642.2|HGNC:14448|taste_%20_1_%20_receptor_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GPR70|"G_%20_protein-coupled_%20_receptor_%20_70"_%2C__%20_"taste_%20_receptor_%2C__%20_type_%20_1_%2C__%20_member_%20_1"|T1R1_%2C__%20_TR1||1p36.31|2015-12-16||2015-12-16|||80835|ENSG00000173662|12856281_%2C__%20_11894099|NM_138697|1161|Taste_%20_1_%20_receptors|CCDS81_%2C__%20_CCDS82|OTTHUMG00000001441|80835|606225|NM_138697|Q7RTX1|ENSG00000173662|uc001ant.4|TS1R1_HUMAN||B2RMX0_%7C_Q5SY22_%7C_Q5SY24_%7C_Q8NGZ7_%7C_Q8TDJ7_%7C_Q8TDJ8_%7C_Q8TDJ9_%7C_Q8TDK0|Q7RTX1|detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050912)_%7C_sensory_%20_perception_%20_of_%20_umami_%20_taste_%20_(GO:0050917)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|protein_%20_heterodimerization_%20_activity_%20_(GO:0046982)_%7C_taste_%20_receptor_%20_activity_%20_(GO:0008527)||||true|false|0.9986_%2C_0.001398|false|false|1||false|false|false|TAS1R1:80835_%7C_ZBTB48:3104|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|115030111|6639436|false|false|0|false|0|false|0.999004_%2C_0.000995948|false|false|false|SNV|true|0x050000020605040436000100|1|false|132|rs115030111|] +1 6647283 variant.558 C T . PASS FUNCOTATION=[ZBTB48|hg19|chr1|6647283|6647283|NONSENSE||SNP|C|C|T|g.chr1:6647283C>T|ENST00000377674.4|+|6|1314|c.1156C>T|c.(1156-1158)Cag>Tag|p.Q386*|0.5960099750623441|CTGCTCCCAGCAGTTCATGCA||Esophageal_%20_Squamous(125_%3B_1449_%20_1657_%20_4031_%20_29866_%20_49542)||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U45325|NM_005341.3|NP_005332.1|HGNC:4930|zinc_%20_finger_%20_and_%20_BTB_%20_domain_%20_containing_%20_48|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HKR3|"GLI-Kruppel_%20_family_%20_member_%20_HKR3"|ZNF855_%2C__%20_TZAP|"telomeric_%20_zinc_%20_finger-associated_%20_protein"|1p36.31|2017-06-06|2006-09-20|2006-09-20|BC013573||3104|ENSG00000204859|2850480_%2C__%20_8661141_%2C__%20_28082411|NM_005341|861_%7C_28|BTB_%20_domain_%20_containing_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS84|OTTHUMG00000001438|3104|165270|NM_001278647|P10074|ENSG00000204859|uc001anx.5|ZBT48_HUMAN||Q5SY19|P10074|transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6690413 variant.571 G A . PASS FUNCOTATION=[THAP3|hg19|chr1|6690413|6690413|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:6690413G>A|ENST00000054650.4|+|4|491|c.333G>A|c.(331-333)aaG>aaA|p.K111K|0.5386533665835411|AGAAAGAAAAGGTGAGTGCAC|THAP3_ENST00000377627.3_SPLICE_SITE_p.K111K/THAP3_ENST00000307896.6_SPLICE_SITE_p.K110K|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC092427|NM_001195753.1|NP_001182682.1|HGNC:20855|THAP_%20_domain_%20_containing_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"THAP_%20_domain_%20_containing_%2C__%20_apoptosis_%20_associated_%20_protein_%20_3"|||1p36.31|2016-10-05||2016-05-16|BC022081||90326|ENSG00000041988|12575992|NM_138350|65|THAP_%20_domain_%20_containing|CCDS86_%2C__%20_CCDS55572_%2C__%20_CCDS55573|OTTHUMG00000001440|90326|612532|NM_001195752|Q8WTV1|ENSG00000041988|uc001aoe.3|THAP3_HUMAN||Q569K1_%7C_Q5TH66_%7C_Q5TH67_%7C_Q8N8T6_%7C_Q9BSC7_%7C_Q9Y3H2_%7C_Q9Y3H3|Q8WTV1|||DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6690413 variant.571 G A . PASS FUNCOTATION=[THAP3|hg19|chr1|6690413|6690413|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:6690413G>A|ENST00000054650.4|+|4|491|c.333G>A|c.(331-333)aaG>aaA|p.K111K|0.5386533665835411|AGAAAGAAAAGGTGAGTGCAC|THAP3_ENST00000377627.3_SPLICE_SITE_p.K111K/THAP3_ENST00000307896.6_SPLICE_SITE_p.K110K|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC092427|NM_001195753.1|NP_001182682.1|HGNC:20855|THAP_%20_domain_%20_containing_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"THAP_%20_domain_%20_containing_%2C__%20_apoptosis_%20_associated_%20_protein_%20_3"|||1p36.31|2016-10-05||2016-05-16|BC022081||90326|ENSG00000041988|12575992|NM_138350|65|THAP_%20_domain_%20_containing|CCDS86_%2C__%20_CCDS55572_%2C__%20_CCDS55573|OTTHUMG00000001440|90326|612532|NM_001195752|Q8WTV1|ENSG00000041988|uc001aoe.3|THAP3_HUMAN||Q569K1_%7C_Q5TH66_%7C_Q5TH67_%7C_Q8N8T6_%7C_Q9BSC7_%7C_Q9Y3H2_%7C_Q9Y3H3|Q8WTV1|||DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6694207 rs12727844 A G . PASS FUNCOTATION=[THAP3|hg19|chr1|6694207|6694207|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:6694207A>G|ENST00000377627.3|+|5|||||0.5236907730673317|TGAACACACAATACACGGAAG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC092427|NM_138350.3|NP_612359.2|HGNC:20855|THAP_%20_domain_%20_containing_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"THAP_%20_domain_%20_containing_%2C__%20_apoptosis_%20_associated_%20_protein_%20_3"|||1p36.31|2016-10-05||2016-05-16|BC022081||90326|ENSG00000041988|12575992|NM_138350|65|THAP_%20_domain_%20_containing|CCDS86_%2C__%20_CCDS55572_%2C__%20_CCDS55573|OTTHUMG00000001440|90326|612532|NM_001195752|Q8WTV1|ENSG00000041988|uc001aoe.3|THAP3_HUMAN||Q569K1_%7C_Q5TH66_%7C_Q5TH67_%7C_Q8N8T6_%7C_Q9BSC7_%7C_Q9Y3H2_%7C_Q9Y3H3|Q8WTV1|||DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6695123 rs1043681 C T . PASS FUNCOTATION=[DNAJC11|hg19|chr1|6695123|6695123|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:6695123C>T|ENST00000377577.5|-|16|||||0.571072319201995|GGTGGAATGACTTGAGCAGCT|THAP3_ENST00000377627.3_THREE_PRIME_UTR/DNAJC11_ENST00000349363.6_INTRON/DNAJC11_ENST00000465508.1_INTRON|||||||||||||||||||||||||184|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC014145|NM_018198.3|NP_060668.2|HGNC:25570|DnaJ_%20_heat_%20_shock_%20_protein_%20_family_%20_(Hsp40)_%20_member_%20_C11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DnaJ_%20_(Hsp40)_%20_homolog_%2C__%20_subfamily_%20_C_%2C__%20_member_%20_11"|FLJ10737||1p36.31|2016-10-05||2015-11-19|AF306695||55735|ENSG00000007923|12964007|NM_018198|584|DNAJ_%20_(HSP40)_%20_heat_%20_shock_%20_proteins|CCDS87|OTTHUMG00000001443|55735|614827|NM_018198|Q9NVH1|ENSG00000007923|uc001aof.3|DJC11_HUMAN||Q4VWF5_%7C_Q5VZN0_%7C_Q6PK20_%7C_Q6PK70_%7C_Q8NDM2_%7C_Q96CL7|Q9NVH1||extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 6785946 psy_rs4390192 G T . PASS FUNCOTATION=[RP11-242F24.1|hg19|chr1|6785946|6785946|LINCRNA||SNP|G|G|T|g.chr1:6785946G>T|ENST00000432429.1|+|||c.e2-51G>T|||0.5187032418952618|TATGTCTGTTGCACCCCAATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 7826559 var_1_7826559 C T . PASS FUNCOTATION=[CAMTA1|hg19|chr1|7826559|7826559|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:7826559C>T|ENST00000303635.7|+|23|||||0.4139650872817955|TGAAGACATACAGCAGCATCC|CAMTA1_ENST00000476864.1_NONSENSE_p.Q231*/CAMTA1_ENST00000439411.2_NONSENSE_p.Q1653*/VAMP3_ENST00000054666.6_FIVE_PRIME_FLANK||calmodulin_%20_binding_%20_transcription_%20_activator_%20_1|611501|1|1p36.31-p36.23|yes||epitheliod_%20_hemangioendothelioma|||M|Dom|T|WWTR1|||||||||||124|biliary_tract(27)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||Z98884|NM_015215.2|NP_056030.1|HGNC:18806|calmodulin_%20_binding_%20_transcription_%20_activator_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA0833||1p36.31-p36.23|2017-06-08|||AB020640||23261|ENSG00000171735|11925432|NM_015215|||CCDS30576_%2C__%20_CCDS55574_%2C__%20_CCDS55575|OTTHUMG00000001212|23261|611501|NM_001195563|Q9Y6Y1|ENSG00000171735|uc001aoi.3|CMTA1_HUMAN||A7MBM4_%7C_G3V3Z7_%7C_Q5VUE1_%7C_Q6V701_%7C_Q8WYI3_%7C_Q96S92|Q9Y6Y1|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 7838228 exm10611 C T . PASS FUNCOTATION=[VAMP3|hg19|chr1|7838228|7838228|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:7838228C>T|ENST00000470357.1|+|4|772|c.198C>T|c.(196-198)atC>atT|p.I66I|0.3865336658354115|TCATCATCATCGGTGAGTTAC|VAMP3_ENST00000054666.6_SPLICE_SITE_p.I94I|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:12644|vesicle_%20_associated_%20_membrane_%20_protein_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CEB|"cellubrevin"|1p36.23|2015-11-05||2015-11-05|BC003570||9341|ENSG00000049245|9885218|NM_004781|12|Vesicle_%20_associated_%20_membrane_%20_proteins|CCDS88|OTTHUMG00000001225|9341|603657|NM_004781|Q15836|ENSG00000049245|uc001aol.3|VAMP3_HUMAN||Q9BRV4|Q15836|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_exocytosis_%20_(GO:0006887)_%7C_Golgi_%20_to_%20_plasma_%20_membrane_%20_protein_%20_transport_%20_(GO:0043001)_%7C_membrane_%20_fusion_%20_(GO:0061025)_%7C_positive_%20_regulation_%20_of_%20_receptor_%20_recycling_%20_(GO:0001921)_%7C_protein_%20_complex_%20_assembly_%20_(GO:0006461)_%7C_retrograde_%20_transport_%2C__%20_endosome_%20_to_%20_Golgi_%20_(GO:0042147)_%7C_SNARE_%20_complex_%20_assembly_%20_(GO:0035493)_%7C_substrate_%20_adhesion-dependent_%20_cell_%20_spreading_%20_(GO:0034446)_%7C_vesicle_%20_docking_%20_involved_%20_in_%20_exocytosis_%20_(GO:0006904)_%7C_vesicle-mediated_%20_transport_%20_(GO:0016192)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_clathrin-coated_%20_vesicle_%20_membrane_%20_(GO:0030665)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_neuron_%20_projection_%20_(GO:0043005)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_recycling_%20_endosome_%20_(GO:0055037)_%7C_secretory_%20_granule_%20_(GO:0030141)_%7C_SNARE_%20_complex_%20_(GO:0031201)_%7C_synapse_%20_(GO:0045202)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 7838228 exm10611 C T . PASS FUNCOTATION=[VAMP3|hg19|chr1|7838228|7838228|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:7838228C>T|ENST00000470357.1|+|4|772|c.198C>T|c.(196-198)atC>atT|p.I66I|0.3865336658354115|TCATCATCATCGGTGAGTTAC|VAMP3_ENST00000054666.6_SPLICE_SITE_p.I94I|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:12644|vesicle_%20_associated_%20_membrane_%20_protein_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CEB|"cellubrevin"|1p36.23|2015-11-05||2015-11-05|BC003570||9341|ENSG00000049245|9885218|NM_004781|12|Vesicle_%20_associated_%20_membrane_%20_proteins|CCDS88|OTTHUMG00000001225|9341|603657|NM_004781|Q15836|ENSG00000049245|uc001aol.3|VAMP3_HUMAN||Q9BRV4|Q15836|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_exocytosis_%20_(GO:0006887)_%7C_Golgi_%20_to_%20_plasma_%20_membrane_%20_protein_%20_transport_%20_(GO:0043001)_%7C_membrane_%20_fusion_%20_(GO:0061025)_%7C_positive_%20_regulation_%20_of_%20_receptor_%20_recycling_%20_(GO:0001921)_%7C_protein_%20_complex_%20_assembly_%20_(GO:0006461)_%7C_retrograde_%20_transport_%2C__%20_endosome_%20_to_%20_Golgi_%20_(GO:0042147)_%7C_SNARE_%20_complex_%20_assembly_%20_(GO:0035493)_%7C_substrate_%20_adhesion-dependent_%20_cell_%20_spreading_%20_(GO:0034446)_%7C_vesicle_%20_docking_%20_involved_%20_in_%20_exocytosis_%20_(GO:0006904)_%7C_vesicle-mediated_%20_transport_%20_(GO:0016192)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_clathrin-coated_%20_vesicle_%20_membrane_%20_(GO:0030665)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_neuron_%20_projection_%20_(GO:0043005)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_recycling_%20_endosome_%20_(GO:0055037)_%7C_secretory_%20_granule_%20_(GO:0030141)_%7C_SNARE_%20_complex_%20_(GO:0031201)_%7C_synapse_%20_(GO:0045202)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 7838230 variant.587 G T . PASS FUNCOTATION=[VAMP3|hg19|chr1|7838230|7838230|SPLICE_SITE|INTRON|SNP|G|G|T|g.chr1:7838230G>T|ENST00000470357.1|+|||c.e4+1G>T|c.e4+1||0.3865336658354115|ATCATCATCGGTGAGTTACCC|VAMP3_ENST00000054666.6_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:12644|vesicle_%20_associated_%20_membrane_%20_protein_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CEB|"cellubrevin"|1p36.23|2015-11-05||2015-11-05|BC003570||9341|ENSG00000049245|9885218|NM_004781|12|Vesicle_%20_associated_%20_membrane_%20_proteins|CCDS88|OTTHUMG00000001225|9341|603657|NM_004781|Q15836|ENSG00000049245|uc001aol.3|VAMP3_HUMAN||Q9BRV4|Q15836|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_exocytosis_%20_(GO:0006887)_%7C_Golgi_%20_to_%20_plasma_%20_membrane_%20_protein_%20_transport_%20_(GO:0043001)_%7C_membrane_%20_fusion_%20_(GO:0061025)_%7C_positive_%20_regulation_%20_of_%20_receptor_%20_recycling_%20_(GO:0001921)_%7C_protein_%20_complex_%20_assembly_%20_(GO:0006461)_%7C_retrograde_%20_transport_%2C__%20_endosome_%20_to_%20_Golgi_%20_(GO:0042147)_%7C_SNARE_%20_complex_%20_assembly_%20_(GO:0035493)_%7C_substrate_%20_adhesion-dependent_%20_cell_%20_spreading_%20_(GO:0034446)_%7C_vesicle_%20_docking_%20_involved_%20_in_%20_exocytosis_%20_(GO:0006904)_%7C_vesicle-mediated_%20_transport_%20_(GO:0016192)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_clathrin-coated_%20_vesicle_%20_membrane_%20_(GO:0030665)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_neuron_%20_projection_%20_(GO:0043005)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_recycling_%20_endosome_%20_(GO:0055037)_%7C_secretory_%20_granule_%20_(GO:0030141)_%7C_SNARE_%20_complex_%20_(GO:0031201)_%7C_synapse_%20_(GO:0045202)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 7846779 newrs143519087 A G . PASS FUNCOTATION=[PER3|hg19|chr1|7846779|7846779|SPLICE_SITE|INTRON|SNP|A|A|G|g.chr1:7846779A>G|ENST00000377532.3|+|||c.e3-2A>G|c.e3-2||0.38902743142144636|TGTGTTTCTTAGCAAACAGTG|PER3_ENST00000361923.2_SPLICE_SITE/PER3_ENST00000377541.1_SPLICE_SITE|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:8847|period_%20_circadian_%20_regulator_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"period_%20_(Drosophila)_%20_homolog_%20_3"_%2C__%20_"period_%20_homolog_%20_3_%20_(Drosophila)"_%2C__%20_"period_%20_circadian_%20_clock_%20_3"|||1p36.23|2017-10-02||2017-10-02|BC026102||8863|ENSG00000049246|9427249|NM_016831|||CCDS89_%2C__%20_CCDS72695_%2C__%20_CCDS76097|OTTHUMG00000001216|8863|603427|NM_001289861|P56645|ENSG00000049246|uc057bxs.1|PER3_HUMAN||Q5H8X4_%7C_Q5H8X5_%7C_Q969K6_%7C_Q96S77_%7C_Q96S78_%7C_Q9C0J3_%7C_Q9NSP9_%7C_Q9UGU8|P56645|circadian_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0032922)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_sleep_%20_(GO:0045187)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|true||false|false|||false|false|false|PER3:8863|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|143519087|7846779|false|false|0|false|0|false||false|false|false|SNV|false|0x0500002a0005000402000100|1|false|134|rs143519087|] +1 7854011 indel.591 TTCTA T . PASS FUNCOTATION=[PER3|hg19|chr1|7854012|7854015|SPLICE_SITE|INTRON|DEL|TCTA|TCTA|-|g.chr1:7854012_7854015delTCTA|ENST00000377532.3|+|||c.e5-6TTCTA>T|c.e5-5||0.400990099009901|CATCTTTCTTTCTAGCAGCTGCAC|PER3_ENST00000361923.2_INTRON/PER3_ENST00000377541.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:8847|period_%20_circadian_%20_regulator_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"period_%20_(Drosophila)_%20_homolog_%20_3"_%2C__%20_"period_%20_homolog_%20_3_%20_(Drosophila)"_%2C__%20_"period_%20_circadian_%20_clock_%20_3"|||1p36.23|2017-10-02||2017-10-02|BC026102||8863|ENSG00000049246|9427249|NM_016831|||CCDS89_%2C__%20_CCDS72695_%2C__%20_CCDS76097|OTTHUMG00000001216|8863|603427|NM_001289861|P56645|ENSG00000049246|uc057bxs.1|PER3_HUMAN||Q5H8X4_%7C_Q5H8X5_%7C_Q969K6_%7C_Q96S77_%7C_Q96S78_%7C_Q9C0J3_%7C_Q9NSP9_%7C_Q9UGU8|P56645|circadian_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0032922)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_sleep_%20_(GO:0045187)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|true||false|false|||false|false|false|PER3:8863|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|773875104|7854012|false|false|0|false|0|false||false|false|false|DIV|false|0x050000280005000402000200|1|false|144|rs773875104|] +1 7854068 var_1_7854068 G A . PASS FUNCOTATION=[PER3|hg19|chr1|7854068|7854068|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:7854068G>A|ENST00000377532.3|+|5|868|c.644G>A|c.(643-645)cGt>cAt|p.R215H|0.39650872817955113|TGCAGGATCCGGTAAGTATAG|PER3_ENST00000361923.2_SPLICE_SITE_p.R214H/PER3_ENST00000377541.1_SPLICE_SITE_p.R214H|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:8847|period_%20_circadian_%20_regulator_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"period_%20_(Drosophila)_%20_homolog_%20_3"_%2C__%20_"period_%20_homolog_%20_3_%20_(Drosophila)"_%2C__%20_"period_%20_circadian_%20_clock_%20_3"|||1p36.23|2017-10-02||2017-10-02|BC026102||8863|ENSG00000049246|9427249|NM_016831|||CCDS89_%2C__%20_CCDS72695_%2C__%20_CCDS76097|OTTHUMG00000001216|8863|603427|NM_001289861|P56645|ENSG00000049246|uc057bxs.1|PER3_HUMAN||Q5H8X4_%7C_Q5H8X5_%7C_Q969K6_%7C_Q96S77_%7C_Q96S78_%7C_Q9C0J3_%7C_Q9NSP9_%7C_Q9UGU8|P56645|circadian_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0032922)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_sleep_%20_(GO:0045187)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false||false|false|||false|false|false|PER3:8863|false|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|754053184|7854068|false|false|0|false|0|false||false|false|true|SNV|true|0x050000400a05040002000100|1|false|144|rs754053184|] +1 7869953 exm10695 C G . PASS FUNCOTATION=[PER3|hg19|chr1|7869953|7869953|SPLICE_SITE|MISSENSE|SNP|C|C|G|g.chr1:7869953C>G|ENST00000377532.3|+|11|1467|c.1243C>G|c.(1243-1245)Cca>Gca|p.P415A|0.5087281795511222|GTCCTTCCAGCCAGTTCACGT|PER3_ENST00000361923.2_SPLICE_SITE_p.P414A|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:8847|period_%20_circadian_%20_regulator_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"period_%20_(Drosophila)_%20_homolog_%20_3"_%2C__%20_"period_%20_homolog_%20_3_%20_(Drosophila)"_%2C__%20_"period_%20_circadian_%20_clock_%20_3"|||1p36.23|2017-10-02||2017-10-02|BC026102||8863|ENSG00000049246|9427249|NM_016831|||CCDS89_%2C__%20_CCDS72695_%2C__%20_CCDS76097|OTTHUMG00000001216|8863|603427|NM_001289861|P56645|ENSG00000049246|uc057bxs.1|PER3_HUMAN||Q5H8X4_%7C_Q5H8X5_%7C_Q969K6_%7C_Q96S77_%7C_Q96S78_%7C_Q9C0J3_%7C_Q9NSP9_%7C_Q9UGU8|P56645|circadian_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0032922)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_sleep_%20_(GO:0045187)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false|0.9966_%2C_0.003395|false|false|1||false|false|false|PER3:8863|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|false|true|150812083|7869953|false|true|0|false|0|false|0.998042_%2C_0.00195755|false|false|false|SNV|true|0x050228000a05040436000100|1|false|134|rs150812083|] +1 7879481 var_1_7879481 G A . PASS FUNCOTATION=[PER3|hg19|chr1|7879481|7879481|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:7879481G>A|ENST00000377532.3|+|||c.e13+1G>A|c.e13+1||0.40399002493765584|GTGTCATCAGGTATGAGACCG|PER3_ENST00000361923.2_SPLICE_SITE/RP3-467L1.4_ENST00000451646.1_RNA|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:8847|period_%20_circadian_%20_regulator_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"period_%20_(Drosophila)_%20_homolog_%20_3"_%2C__%20_"period_%20_homolog_%20_3_%20_(Drosophila)"_%2C__%20_"period_%20_circadian_%20_clock_%20_3"|||1p36.23|2017-10-02||2017-10-02|BC026102||8863|ENSG00000049246|9427249|NM_016831|||CCDS89_%2C__%20_CCDS72695_%2C__%20_CCDS76097|OTTHUMG00000001216|8863|603427|NM_001289861|P56645|ENSG00000049246|uc057bxs.1|PER3_HUMAN||Q5H8X4_%7C_Q5H8X5_%7C_Q969K6_%7C_Q96S77_%7C_Q96S78_%7C_Q9C0J3_%7C_Q9NSP9_%7C_Q9UGU8|P56645|circadian_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0032922)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_sleep_%20_(GO:0045187)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false||false|false|||true|false|false|PER3:8863|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|771451809|7879481|false|false|0|false|0|false||false|false|false|SNV|false|0x050000100005000402000100|1|false|144|rs771451809|] +1 7897138 indel.606 CA C . PASS FUNCOTATION=[PER3|hg19|chr1|7897139|7897139|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:7897139delA|ENST00000377532.3|+|20|3702|c.3479delA|c.(3478-3480)caafs|p.K1161fs|0.3940149625935162|TCTCATGGGCAAAAGGAGGAG|PER3_ENST00000361923.2_FRAME_SHIFT_DEL_p.K1152fs|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:8847|period_%20_circadian_%20_regulator_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"period_%20_(Drosophila)_%20_homolog_%20_3"_%2C__%20_"period_%20_homolog_%20_3_%20_(Drosophila)"_%2C__%20_"period_%20_circadian_%20_clock_%20_3"|||1p36.23|2017-10-02||2017-10-02|BC026102||8863|ENSG00000049246|9427249|NM_016831|||CCDS89_%2C__%20_CCDS72695_%2C__%20_CCDS76097|OTTHUMG00000001216|8863|603427|NM_001289861|P56645|ENSG00000049246|uc057bxs.1|PER3_HUMAN||Q5H8X4_%7C_Q5H8X5_%7C_Q969K6_%7C_Q96S77_%7C_Q96S78_%7C_Q9C0J3_%7C_Q9NSP9_%7C_Q9UGU8|P56645|circadian_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0032922)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_sleep_%20_(GO:0045187)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false||false|false|||false|false|false|PER3:8863|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|773961726|7897139|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs773961726|] +1 7897180 variant.607 C T . PASS FUNCOTATION=[PER3|hg19|chr1|7897180|7897180|NONSENSE||SNP|C|C|T|g.chr1:7897180C>T|ENST00000377532.3|+|20|3744|c.3520C>T|c.(3520-3522)Cag>Tag|p.Q1174*|0.3940149625935162|GATTCAAAGCCAGACTGTCAC|PER3_ENST00000361923.2_NONSENSE_p.Q1165*|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:8847|period_%20_circadian_%20_regulator_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"period_%20_(Drosophila)_%20_homolog_%20_3"_%2C__%20_"period_%20_homolog_%20_3_%20_(Drosophila)"_%2C__%20_"period_%20_circadian_%20_clock_%20_3"|||1p36.23|2017-10-02||2017-10-02|BC026102||8863|ENSG00000049246|9427249|NM_016831|||CCDS89_%2C__%20_CCDS72695_%2C__%20_CCDS76097|OTTHUMG00000001216|8863|603427|NM_001289861|P56645|ENSG00000049246|uc057bxs.1|PER3_HUMAN||Q5H8X4_%7C_Q5H8X5_%7C_Q969K6_%7C_Q96S77_%7C_Q96S78_%7C_Q9C0J3_%7C_Q9NSP9_%7C_Q9UGU8|P56645|circadian_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0032922)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_sleep_%20_(GO:0045187)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false||false|false|||false|false|false|PER3:8863|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|748839772|7897180|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000605000402000100|1|false|144|rs748839772|] +1 7907859 variant.609 C T . PASS FUNCOTATION=[UTS2|hg19|chr1|7907859|7907859|SILENT||SNP|C|C|T|g.chr1:7907859C>T|ENST00000361696.5|-|4|374|c.342G>A|c.(340-342)gaG>gaA|p.E114E|0.35910224438902744|AATCAGGAGTCTCACGTTTCT|UTS2_ENST00000054668.5_SILENT_p.E129E/UTS2_ENST00000377516.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|NM_006786.3|NP_006777.1|HGNC:12636|urotensin_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||UII_%2C__%20_U-II_%2C__%20_UCN2_%2C__%20_PRO1068|"prepro_%20_U-II"|1p36.23|2016-10-05|||AF104118||10911|ENSG00000049247|9861051_%2C__%20_10499587|NM_006786|542|Endogenous_%20_ligands|CCDS90_%2C__%20_CCDS91|OTTHUMG00000001218|10911|604097|NM_006786|O95399|ENSG00000049247|uc001aos.4|UTS2_HUMAN||Q5H8X7_%7C_Q6UXF6_%7C_Q9UKP7|O95399|muscle_%20_contraction_%20_(GO:0006936)_%7C_negative_%20_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0045776)_%7C_negative_%20_regulation_%20_of_%20_glomerular_%20_filtration_%20_(GO:0003105)_%7C_negative_%20_regulation_%20_of_%20_heart_%20_rate_%20_(GO:0010459)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_secretion_%20_(GO:0046676)_%7C_negative_%20_regulation_%20_of_%20_renal_%20_sodium_%20_excretion_%20_(GO:0035814)_%7C_negative_%20_regulation_%20_of_%20_urine_%20_volume_%20_(GO:0035811)_%7C_positive_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0045766)_%7C_positive_%20_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0045777)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045597)_%7C_positive_%20_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_REM_%20_sleep_%20_(GO:0046005)_%7C_positive_%20_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_wakefulness_%20_(GO:0010841)_%7C_positive_%20_regulation_%20_of_%20_collagen_%20_biosynthetic_%20_process_%20_(GO:0032967)_%7C_positive_%20_regulation_%20_of_%20_cytosolic_%20_calcium_%20_ion_%20_concentration_%20_(GO:0007204)_%7C_positive_%20_regulation_%20_of_%20_fibroblast_%20_migration_%20_(GO:0010763)_%7C_positive_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048146)_%7C_positive_%20_regulation_%20_of_%20_heart_%20_rate_%20_(GO:0010460)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_transmission_%2C__%20_cholinergic_%20_(GO:0032224)_%7C_positive_%20_regulation_%20_of_%20_vasodilation_%20_(GO:0045909)_%7C_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_response_%20_to_%20_testosterone_%20_(GO:0033574)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|hormone_%20_activity_%20_(GO:0005179)_%7C_receptor_%20_binding_%20_(GO:0005102)||||true|false||false|false|||false|false|false|UTS2:10911|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|757148544|7907859|false|false|0|false|0|true|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050000000305040402000100|1|false|144|rs757148544|] +1 7913430 rs228648 G A . PASS FUNCOTATION=[UTS2|hg19|chr1|7913430|7913430|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr1:7913430G>A|ENST00000377516.2|-|1|||||0.3566084788029925|GCAAAGAGACGTGGATTTATG|UTS2_ENST00000054668.5_MISSENSE_p.T21M/UTS2_ENST00000361696.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:12636|urotensin_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||UII_%2C__%20_U-II_%2C__%20_UCN2_%2C__%20_PRO1068|"prepro_%20_U-II"|1p36.23|2016-10-05|||AF104118||10911|ENSG00000049247|9861051_%2C__%20_10499587|NM_006786|542|Endogenous_%20_ligands|CCDS90_%2C__%20_CCDS91|OTTHUMG00000001218|10911|604097|NM_006786|O95399|ENSG00000049247|uc001aos.4|UTS2_HUMAN||Q5H8X7_%7C_Q6UXF6_%7C_Q9UKP7|O95399|muscle_%20_contraction_%20_(GO:0006936)_%7C_negative_%20_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0045776)_%7C_negative_%20_regulation_%20_of_%20_glomerular_%20_filtration_%20_(GO:0003105)_%7C_negative_%20_regulation_%20_of_%20_heart_%20_rate_%20_(GO:0010459)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_secretion_%20_(GO:0046676)_%7C_negative_%20_regulation_%20_of_%20_renal_%20_sodium_%20_excretion_%20_(GO:0035814)_%7C_negative_%20_regulation_%20_of_%20_urine_%20_volume_%20_(GO:0035811)_%7C_positive_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0045766)_%7C_positive_%20_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0045777)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045597)_%7C_positive_%20_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_REM_%20_sleep_%20_(GO:0046005)_%7C_positive_%20_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_wakefulness_%20_(GO:0010841)_%7C_positive_%20_regulation_%20_of_%20_collagen_%20_biosynthetic_%20_process_%20_(GO:0032967)_%7C_positive_%20_regulation_%20_of_%20_cytosolic_%20_calcium_%20_ion_%20_concentration_%20_(GO:0007204)_%7C_positive_%20_regulation_%20_of_%20_fibroblast_%20_migration_%20_(GO:0010763)_%7C_positive_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048146)_%7C_positive_%20_regulation_%20_of_%20_heart_%20_rate_%20_(GO:0010460)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_transmission_%2C__%20_cholinergic_%20_(GO:0032224)_%7C_positive_%20_regulation_%20_of_%20_vasodilation_%20_(GO:0045909)_%7C_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_response_%20_to_%20_testosterone_%20_(GO:0033574)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|hormone_%20_activity_%20_(GO:0005179)_%7C_receptor_%20_binding_%20_(GO:0005102)||||true|false|0.5216_%2C_0.4784|false|false|1||false|true|true|UTS2:10911|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|true|true|228648|7913430|false|false|0|true|0|false|0.476578_%2C_0.523422|false|false|false|SNV|true|0x050128020a0517053f000101|1|false|79|rs228648|] +1 7980338 exm2264984 A G . PASS FUNCOTATION=[TNFRSF9|hg19|chr1|7980338|7980338|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:7980338A>G|ENST00000377507.3|-|8|||||0.3865336658354115|ACTAGCTCAAACCTGTTAAGT||||||||||||||||||||||||||246|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||U03397|NM_001561.5|NP_001552.2|HGNC:11924|TNF_%20_receptor_%20_superfamily_%20_member_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ILA|"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_9"|CD137_%2C__%20_4-1BB||1p36.23|2016-10-05||2016-06-28|L12964||3604|ENSG00000049249|8262389_%2C__%20_8639902||471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS92|OTTHUMG00000001223|3604|602250|NM_001561|Q07011|ENSG00000049249|uc001aot.4|TNR9_HUMAN|||Q07011|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|receptor_%20_activity_%20_(GO:0004872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 7998254 exm10928 T G . PASS FUNCOTATION=[TNFRSF9|hg19|chr1|7998254|7998254|SPLICE_SITE|MISSENSE|SNP|T|T|G|g.chr1:7998254T>G|ENST00000377507.3|-|4|512|c.345A>C|c.(343-345)aaA>aaC|p.K115N|0.3690773067331671|CAAACGTACCTTTTTTTGTCA||||||||||||||||||||||||||246|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||U03397|NM_001561.5|NP_001552.2|HGNC:11924|TNF_%20_receptor_%20_superfamily_%20_member_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ILA|"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_9"|CD137_%2C__%20_4-1BB||1p36.23|2016-10-05||2016-06-28|L12964||3604|ENSG00000049249|8262389_%2C__%20_8639902||471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS92|OTTHUMG00000001223|3604|602250|NM_001561|Q07011|ENSG00000049249|uc001aot.4|TNR9_HUMAN|||Q07011|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|receptor_%20_activity_%20_(GO:0004872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 7998390 exm10934 C T . PASS FUNCOTATION=[TNFRSF9|hg19|chr1|7998390|7998390|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:7998390C>T|ENST00000377507.3|-|4|376|c.209G>A|c.(208-210)gGt>gAt|p.G70D|0.4014962593516209|CCTGAAAACACCTACAAAGTC||||||||||||||||||||||||||246|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||U03397|NM_001561.5|NP_001552.2|HGNC:11924|TNF_%20_receptor_%20_superfamily_%20_member_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ILA|"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_9"|CD137_%2C__%20_4-1BB||1p36.23|2016-10-05||2016-06-28|L12964||3604|ENSG00000049249|8262389_%2C__%20_8639902||471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS92|OTTHUMG00000001223|3604|602250|NM_001561|Q07011|ENSG00000049249|uc001aot.4|TNR9_HUMAN|||Q07011|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|receptor_%20_activity_%20_(GO:0004872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 7999982 variant.617 G A . PASS FUNCOTATION=[TNFRSF9|hg19|chr1|7999982|7999982|NONSENSE||SNP|G|G|A|g.chr1:7999982G>A|ENST00000377507.3|-|2|240|c.73C>T|c.(73-75)Cag>Tag|p.Q25*|0.40399002493765584|CAAGGATCCTGCAATGATCTT||||||||||||||||||||||||||246|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||U03397|NM_001561.5|NP_001552.2|HGNC:11924|TNF_%20_receptor_%20_superfamily_%20_member_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ILA|"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_9"|CD137_%2C__%20_4-1BB||1p36.23|2016-10-05||2016-06-28|L12964||3604|ENSG00000049249|8262389_%2C__%20_8639902||471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS92|OTTHUMG00000001223|3604|602250|NM_001561|Q07011|ENSG00000049249|uc001aot.4|TNR9_HUMAN|||Q07011|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|receptor_%20_activity_%20_(GO:0004872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8021973 exm-rs35675666 G T . PASS FUNCOTATION=[PARK7|hg19|chr1|8021973|8021973|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:8021973G>T|ENST00000377491.1|+|1|||||0.6583541147132169|GCGGGGCCTGGGTCGGGGCCG|PARK7_ENST00000493678.1_INTRON/PARK7_ENST00000338639.5_INTRON/PARK7_ENST00000377493.5_INTRON/PARK7_ENST00000377488.1_FIVE_PRIME_FLANK/PARK7_ENST00000497113.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||D61380|||HGNC:16369|Parkinsonism_%20_associated_%20_deglycase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Parkinson_%20_disease_%20_(autosomal_%20_recessive_%2C__%20_early_%20_onset)_%20_7"_%2C__%20_"parkinson_%20_protein_%20_7"|DJ-1_%2C__%20_DJ1_%2C__%20_GATD2||1p36.23|2017-07-25||2016-02-15|D61380||11315|ENSG00000116288|11462174_%2C__%20_9070310_%2C__%20_25416785_%2C__%20_28596309|NM_007262|672_%7C_1408|Parkinson_%20_disease_%20_associated_%20_genes_%7C_Glutamine_%20_amidotransferase_%20_like_%20_class_%20_1_%20_domain_%20_containing|CCDS93|OTTHUMG00000001210|11315|602533|NM_001123377|Q99497|ENSG00000116288|uc057byc.1|PARK7_HUMAN||B2R4Z1_%7C_O14805_%7C_Q6DR95_%7C_Q7LFU2|Q99497|adult_%20_locomotory_%20_behavior_%20_(GO:0008344)_%7C_autophagy_%20_(GO:0006914)_%7C_cellular_%20_response_%20_to_%20_glyoxal_%20_(GO:0036471)_%7C_cellular_%20_response_%20_to_%20_hydrogen_%20_peroxide_%20_(GO:0070301)_%7C_cellular_%20_response_%20_to_%20_oxidative_%20_stress_%20_(GO:0034599)_%7C_dopamine_%20_uptake_%20_involved_%20_in_%20_synaptic_%20_transmission_%20_(GO:0051583)_%7C_glycolate_%20_biosynthetic_%20_process_%20_(GO:0046295)_%7C_glyoxal_%20_catabolic_%20_process_%20_(GO:1903190)_%7C_hydrogen_%20_peroxide_%20_metabolic_%20_process_%20_(GO:0042743)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_lactate_%20_biosynthetic_%20_process_%20_(GO:0019249)_%7C_membrane_%20_depolarization_%20_(GO:0051899)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_methylglyoxal_%20_catabolic_%20_process_%20_to_%20_D-lactate_%20_(GO:0019243)_%7C_mitochondrion_%20_organization_%20_(GO:0007005)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_death_%20_(GO:0060548)_%7C_negative_%20_regulation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001268)_%7C_negative_%20_regulation_%20_of_%20_death-inducing_%20_signaling_%20_complex_%20_assembly_%20_(GO:1903073)_%7C_negative_%20_regulation_%20_of_%20_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001237)_%7C_negative_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0010629)_%7C_negative_%20_regulation_%20_of_%20_hydrogen_%20_peroxide-induced_%20_cell_%20_death_%20_(GO:1903206)_%7C_negative_%20_regulation_%20_of_%20_hydrogen_%20_peroxide-induced_%20_neuron_%20_death_%20_(GO:1903208)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_death_%20_(GO:1901215)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_cell_%20_death_%20_(GO:1903202)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_neuron_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1903377)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_acetylation_%20_(GO:1901984)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_export_%20_from_%20_nucleus_%20_(GO:0046826)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_K48-linked_%20_deubiquitination_%20_(GO:1903094)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_phosphorylation_%20_(GO:0001933)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_sumoylation_%20_(GO:0033234)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_TRAIL-activated_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1903122)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0051444)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-specific_%20_protease_%20_activity_%20_(GO:2000157)_%7C_positive_%20_regulation_%20_of_%20_androgen_%20_receptor_%20_activity_%20_(GO:2000825)_%7C_positive_%20_regulation_%20_of_%20_dopamine_%20_biosynthetic_%20_process_%20_(GO:1903181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-8_%20_production_%20_(GO:0032757)_%7C_positive_%20_regulation_%20_of_%20_L-dopa_%20_biosynthetic_%20_process_%20_(GO:1903197)_%7C_positive_%20_regulation_%20_of_%20_L-dopa_%20_decarboxylase_%20_activity_%20_(GO:1903200)_%7C_positive_%20_regulation_%20_of_%20_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:1902958)_%7C_positive_%20_regulation_%20_of_%20_oxidative_%20_phosphorylation_%20_uncoupler_%20_activity_%20_(GO:2000277)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_homodimerization_%20_activity_%20_(GO:0090073)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:1900182)_%7C_positive_%20_regulation_%20_of_%20_pyrroline-5-carboxylate_%20_reductase_%20_activity_%20_(GO:1903168)_%7C_positive_%20_regulation_%20_of_%20_superoxide_%20_dismutase_%20_activity_%20_(GO:1901671)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_tyrosine_%20_3-monooxygenase_%20_activity_%20_(GO:1903178)_%7C_protein_%20_stabilization_%20_(GO:0050821)_%7C_regulation_%20_of_%20_androgen_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0060765)_%7C_regulation_%20_of_%20_fibril_%20_organization_%20_(GO:1902903)_%7C_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050727)_%7C_regulation_%20_of_%20_mitochondrial_%20_membrane_%20_potential_%20_(GO:0051881)_%7C_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043523)_%7C_single_%20_fertilization_%20_(GO:0007338)|chromatin_%20_(GO:0000785)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_PML_%20_body_%20_(GO:0016605)|androgen_%20_receptor_%20_binding_%20_(GO:0050681)_%7C_cupric_%20_ion_%20_binding_%20_(GO:1903135)_%7C_cuprous_%20_ion_%20_binding_%20_(GO:1903136)_%7C_cytokine_%20_binding_%20_(GO:0019955)_%7C_enzyme_%20_binding_%20_(GO:0019899)_%7C_glyoxalase_%20_(glycolic_%20_acid-forming)_%20_activity_%20_(GO:1990422)_%7C_glyoxalase_%20_III_%20_activity_%20_(GO:0019172)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_L-dopa_%20_decarboxylase_%20_activator_%20_activity_%20_(GO:0036478)_%7C_mRNA_%20_binding_%20_(GO:0003729)_%7C_oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_peroxide_%20_as_%20_acceptor_%20_(GO:0016684)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_peroxidase_%20_activity_%20_(GO:0004601)_%7C_peroxiredoxin_%20_activity_%20_(GO:0051920)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_receptor_%20_binding_%20_(GO:0005102)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_RNA_%20_binding_%20_(GO:0003723)_%7C_scaffold_%20_protein_%20_binding_%20_(GO:0097110)_%7C_small_%20_protein_%20_activating_%20_enzyme_%20_binding_%20_(GO:0044388)_%7C_small_%20_protein_%20_conjugating_%20_enzyme_%20_binding_%20_(GO:0044390)_%7C_superoxide_%20_dismutase_%20_copper_%20_chaperone_%20_activity_%20_(GO:0016532)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)_%7C_tyrosine_%20_3-monooxygenase_%20_activator_%20_activity_%20_(GO:0036470)_%7C_ubiquitin-specific_%20_protease_%20_binding_%20_(GO:1990381)||||true|false|0.8518_%2C_._%2C_0.1482|false|false|1||false|true|true|PARK7:11315|true|true|true|true|true|false|true|false|false|false|false|false|false|false|false|true|true|false|true|false|35675666|8021973|false|false|0|true|0|false|0.816402_%2C_._%2C_0.183598|false|false|false|SNV|true|0x0501280a0005170537020100|1|false|126|rs35675666|] +1 8029464 variant.620 G A . PASS FUNCOTATION=[PARK7|hg19|chr1|8029464|8029464|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:8029464G>A|ENST00000493678.1|+|4|319|c.252G>A|c.(250-252)gaG>gaA|p.E84E|0.3192019950124688|ATTTATCTGAGGTAAAAAATT|PARK7_ENST00000377491.1_SPLICE_SITE_p.E84E/PARK7_ENST00000338639.5_SPLICE_SITE_p.E84E/PARK7_ENST00000377488.1_SPLICE_SITE_p.E84E/PARK7_ENST00000377493.5_INTRON/PARK7_ENST00000497113.1_SPLICE_SITE|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||D61380|||HGNC:16369|Parkinsonism_%20_associated_%20_deglycase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Parkinson_%20_disease_%20_(autosomal_%20_recessive_%2C__%20_early_%20_onset)_%20_7"_%2C__%20_"parkinson_%20_protein_%20_7"|DJ-1_%2C__%20_DJ1_%2C__%20_GATD2||1p36.23|2017-07-25||2016-02-15|D61380||11315|ENSG00000116288|11462174_%2C__%20_9070310_%2C__%20_25416785_%2C__%20_28596309|NM_007262|672_%7C_1408|Parkinson_%20_disease_%20_associated_%20_genes_%7C_Glutamine_%20_amidotransferase_%20_like_%20_class_%20_1_%20_domain_%20_containing|CCDS93|OTTHUMG00000001210|11315|602533|NM_001123377|Q99497|ENSG00000116288|uc057byc.1|PARK7_HUMAN||B2R4Z1_%7C_O14805_%7C_Q6DR95_%7C_Q7LFU2|Q99497|adult_%20_locomotory_%20_behavior_%20_(GO:0008344)_%7C_autophagy_%20_(GO:0006914)_%7C_cellular_%20_response_%20_to_%20_glyoxal_%20_(GO:0036471)_%7C_cellular_%20_response_%20_to_%20_hydrogen_%20_peroxide_%20_(GO:0070301)_%7C_cellular_%20_response_%20_to_%20_oxidative_%20_stress_%20_(GO:0034599)_%7C_dopamine_%20_uptake_%20_involved_%20_in_%20_synaptic_%20_transmission_%20_(GO:0051583)_%7C_glycolate_%20_biosynthetic_%20_process_%20_(GO:0046295)_%7C_glyoxal_%20_catabolic_%20_process_%20_(GO:1903190)_%7C_hydrogen_%20_peroxide_%20_metabolic_%20_process_%20_(GO:0042743)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_lactate_%20_biosynthetic_%20_process_%20_(GO:0019249)_%7C_membrane_%20_depolarization_%20_(GO:0051899)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_methylglyoxal_%20_catabolic_%20_process_%20_to_%20_D-lactate_%20_(GO:0019243)_%7C_mitochondrion_%20_organization_%20_(GO:0007005)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_death_%20_(GO:0060548)_%7C_negative_%20_regulation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001268)_%7C_negative_%20_regulation_%20_of_%20_death-inducing_%20_signaling_%20_complex_%20_assembly_%20_(GO:1903073)_%7C_negative_%20_regulation_%20_of_%20_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001237)_%7C_negative_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0010629)_%7C_negative_%20_regulation_%20_of_%20_hydrogen_%20_peroxide-induced_%20_cell_%20_death_%20_(GO:1903206)_%7C_negative_%20_regulation_%20_of_%20_hydrogen_%20_peroxide-induced_%20_neuron_%20_death_%20_(GO:1903208)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_death_%20_(GO:1901215)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_cell_%20_death_%20_(GO:1903202)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_neuron_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1903377)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_acetylation_%20_(GO:1901984)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_export_%20_from_%20_nucleus_%20_(GO:0046826)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_K48-linked_%20_deubiquitination_%20_(GO:1903094)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_phosphorylation_%20_(GO:0001933)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_sumoylation_%20_(GO:0033234)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_TRAIL-activated_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1903122)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0051444)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-specific_%20_protease_%20_activity_%20_(GO:2000157)_%7C_positive_%20_regulation_%20_of_%20_androgen_%20_receptor_%20_activity_%20_(GO:2000825)_%7C_positive_%20_regulation_%20_of_%20_dopamine_%20_biosynthetic_%20_process_%20_(GO:1903181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-8_%20_production_%20_(GO:0032757)_%7C_positive_%20_regulation_%20_of_%20_L-dopa_%20_biosynthetic_%20_process_%20_(GO:1903197)_%7C_positive_%20_regulation_%20_of_%20_L-dopa_%20_decarboxylase_%20_activity_%20_(GO:1903200)_%7C_positive_%20_regulation_%20_of_%20_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:1902958)_%7C_positive_%20_regulation_%20_of_%20_oxidative_%20_phosphorylation_%20_uncoupler_%20_activity_%20_(GO:2000277)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_homodimerization_%20_activity_%20_(GO:0090073)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:1900182)_%7C_positive_%20_regulation_%20_of_%20_pyrroline-5-carboxylate_%20_reductase_%20_activity_%20_(GO:1903168)_%7C_positive_%20_regulation_%20_of_%20_superoxide_%20_dismutase_%20_activity_%20_(GO:1901671)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_tyrosine_%20_3-monooxygenase_%20_activity_%20_(GO:1903178)_%7C_protein_%20_stabilization_%20_(GO:0050821)_%7C_regulation_%20_of_%20_androgen_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0060765)_%7C_regulation_%20_of_%20_fibril_%20_organization_%20_(GO:1902903)_%7C_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050727)_%7C_regulation_%20_of_%20_mitochondrial_%20_membrane_%20_potential_%20_(GO:0051881)_%7C_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043523)_%7C_single_%20_fertilization_%20_(GO:0007338)|chromatin_%20_(GO:0000785)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_PML_%20_body_%20_(GO:0016605)|androgen_%20_receptor_%20_binding_%20_(GO:0050681)_%7C_cupric_%20_ion_%20_binding_%20_(GO:1903135)_%7C_cuprous_%20_ion_%20_binding_%20_(GO:1903136)_%7C_cytokine_%20_binding_%20_(GO:0019955)_%7C_enzyme_%20_binding_%20_(GO:0019899)_%7C_glyoxalase_%20_(glycolic_%20_acid-forming)_%20_activity_%20_(GO:1990422)_%7C_glyoxalase_%20_III_%20_activity_%20_(GO:0019172)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_L-dopa_%20_decarboxylase_%20_activator_%20_activity_%20_(GO:0036478)_%7C_mRNA_%20_binding_%20_(GO:0003729)_%7C_oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_peroxide_%20_as_%20_acceptor_%20_(GO:0016684)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_peroxidase_%20_activity_%20_(GO:0004601)_%7C_peroxiredoxin_%20_activity_%20_(GO:0051920)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_receptor_%20_binding_%20_(GO:0005102)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_RNA_%20_binding_%20_(GO:0003723)_%7C_scaffold_%20_protein_%20_binding_%20_(GO:0097110)_%7C_small_%20_protein_%20_activating_%20_enzyme_%20_binding_%20_(GO:0044388)_%7C_small_%20_protein_%20_conjugating_%20_enzyme_%20_binding_%20_(GO:0044390)_%7C_superoxide_%20_dismutase_%20_copper_%20_chaperone_%20_activity_%20_(GO:0016532)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)_%7C_tyrosine_%20_3-monooxygenase_%20_activator_%20_activity_%20_(GO:0036470)_%7C_ubiquitin-specific_%20_protease_%20_binding_%20_(GO:1990381)||||true|false||false|false|||false|false|false|PARK7:11315|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|749774196|8029464|false|false|0|false|0|true||false|false|false|SNV|false|0x050000080305000402000100|1|false|144|rs749774196|] +1 8029464 variant.620 G A . PASS FUNCOTATION=[PARK7|hg19|chr1|8029464|8029464|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:8029464G>A|ENST00000493678.1|+|4|319|c.252G>A|c.(250-252)gaG>gaA|p.E84E|0.3192019950124688|ATTTATCTGAGGTAAAAAATT|PARK7_ENST00000377491.1_SPLICE_SITE_p.E84E/PARK7_ENST00000338639.5_SPLICE_SITE_p.E84E/PARK7_ENST00000377488.1_SPLICE_SITE_p.E84E/PARK7_ENST00000377493.5_INTRON/PARK7_ENST00000497113.1_SPLICE_SITE|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||D61380|||HGNC:16369|Parkinsonism_%20_associated_%20_deglycase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Parkinson_%20_disease_%20_(autosomal_%20_recessive_%2C__%20_early_%20_onset)_%20_7"_%2C__%20_"parkinson_%20_protein_%20_7"|DJ-1_%2C__%20_DJ1_%2C__%20_GATD2||1p36.23|2017-07-25||2016-02-15|D61380||11315|ENSG00000116288|11462174_%2C__%20_9070310_%2C__%20_25416785_%2C__%20_28596309|NM_007262|672_%7C_1408|Parkinson_%20_disease_%20_associated_%20_genes_%7C_Glutamine_%20_amidotransferase_%20_like_%20_class_%20_1_%20_domain_%20_containing|CCDS93|OTTHUMG00000001210|11315|602533|NM_001123377|Q99497|ENSG00000116288|uc057byc.1|PARK7_HUMAN||B2R4Z1_%7C_O14805_%7C_Q6DR95_%7C_Q7LFU2|Q99497|adult_%20_locomotory_%20_behavior_%20_(GO:0008344)_%7C_autophagy_%20_(GO:0006914)_%7C_cellular_%20_response_%20_to_%20_glyoxal_%20_(GO:0036471)_%7C_cellular_%20_response_%20_to_%20_hydrogen_%20_peroxide_%20_(GO:0070301)_%7C_cellular_%20_response_%20_to_%20_oxidative_%20_stress_%20_(GO:0034599)_%7C_dopamine_%20_uptake_%20_involved_%20_in_%20_synaptic_%20_transmission_%20_(GO:0051583)_%7C_glycolate_%20_biosynthetic_%20_process_%20_(GO:0046295)_%7C_glyoxal_%20_catabolic_%20_process_%20_(GO:1903190)_%7C_hydrogen_%20_peroxide_%20_metabolic_%20_process_%20_(GO:0042743)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_lactate_%20_biosynthetic_%20_process_%20_(GO:0019249)_%7C_membrane_%20_depolarization_%20_(GO:0051899)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_methylglyoxal_%20_catabolic_%20_process_%20_to_%20_D-lactate_%20_(GO:0019243)_%7C_mitochondrion_%20_organization_%20_(GO:0007005)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_death_%20_(GO:0060548)_%7C_negative_%20_regulation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001268)_%7C_negative_%20_regulation_%20_of_%20_death-inducing_%20_signaling_%20_complex_%20_assembly_%20_(GO:1903073)_%7C_negative_%20_regulation_%20_of_%20_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001237)_%7C_negative_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0010629)_%7C_negative_%20_regulation_%20_of_%20_hydrogen_%20_peroxide-induced_%20_cell_%20_death_%20_(GO:1903206)_%7C_negative_%20_regulation_%20_of_%20_hydrogen_%20_peroxide-induced_%20_neuron_%20_death_%20_(GO:1903208)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_death_%20_(GO:1901215)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_cell_%20_death_%20_(GO:1903202)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_neuron_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1903377)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_acetylation_%20_(GO:1901984)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_export_%20_from_%20_nucleus_%20_(GO:0046826)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_K48-linked_%20_deubiquitination_%20_(GO:1903094)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_phosphorylation_%20_(GO:0001933)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_sumoylation_%20_(GO:0033234)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_TRAIL-activated_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1903122)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0051444)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-specific_%20_protease_%20_activity_%20_(GO:2000157)_%7C_positive_%20_regulation_%20_of_%20_androgen_%20_receptor_%20_activity_%20_(GO:2000825)_%7C_positive_%20_regulation_%20_of_%20_dopamine_%20_biosynthetic_%20_process_%20_(GO:1903181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-8_%20_production_%20_(GO:0032757)_%7C_positive_%20_regulation_%20_of_%20_L-dopa_%20_biosynthetic_%20_process_%20_(GO:1903197)_%7C_positive_%20_regulation_%20_of_%20_L-dopa_%20_decarboxylase_%20_activity_%20_(GO:1903200)_%7C_positive_%20_regulation_%20_of_%20_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:1902958)_%7C_positive_%20_regulation_%20_of_%20_oxidative_%20_phosphorylation_%20_uncoupler_%20_activity_%20_(GO:2000277)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_homodimerization_%20_activity_%20_(GO:0090073)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:1900182)_%7C_positive_%20_regulation_%20_of_%20_pyrroline-5-carboxylate_%20_reductase_%20_activity_%20_(GO:1903168)_%7C_positive_%20_regulation_%20_of_%20_superoxide_%20_dismutase_%20_activity_%20_(GO:1901671)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_tyrosine_%20_3-monooxygenase_%20_activity_%20_(GO:1903178)_%7C_protein_%20_stabilization_%20_(GO:0050821)_%7C_regulation_%20_of_%20_androgen_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0060765)_%7C_regulation_%20_of_%20_fibril_%20_organization_%20_(GO:1902903)_%7C_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050727)_%7C_regulation_%20_of_%20_mitochondrial_%20_membrane_%20_potential_%20_(GO:0051881)_%7C_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043523)_%7C_single_%20_fertilization_%20_(GO:0007338)|chromatin_%20_(GO:0000785)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_PML_%20_body_%20_(GO:0016605)|androgen_%20_receptor_%20_binding_%20_(GO:0050681)_%7C_cupric_%20_ion_%20_binding_%20_(GO:1903135)_%7C_cuprous_%20_ion_%20_binding_%20_(GO:1903136)_%7C_cytokine_%20_binding_%20_(GO:0019955)_%7C_enzyme_%20_binding_%20_(GO:0019899)_%7C_glyoxalase_%20_(glycolic_%20_acid-forming)_%20_activity_%20_(GO:1990422)_%7C_glyoxalase_%20_III_%20_activity_%20_(GO:0019172)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_L-dopa_%20_decarboxylase_%20_activator_%20_activity_%20_(GO:0036478)_%7C_mRNA_%20_binding_%20_(GO:0003729)_%7C_oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_peroxide_%20_as_%20_acceptor_%20_(GO:0016684)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_peroxidase_%20_activity_%20_(GO:0004601)_%7C_peroxiredoxin_%20_activity_%20_(GO:0051920)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_receptor_%20_binding_%20_(GO:0005102)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_RNA_%20_binding_%20_(GO:0003723)_%7C_scaffold_%20_protein_%20_binding_%20_(GO:0097110)_%7C_small_%20_protein_%20_activating_%20_enzyme_%20_binding_%20_(GO:0044388)_%7C_small_%20_protein_%20_conjugating_%20_enzyme_%20_binding_%20_(GO:0044390)_%7C_superoxide_%20_dismutase_%20_copper_%20_chaperone_%20_activity_%20_(GO:0016532)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)_%7C_tyrosine_%20_3-monooxygenase_%20_activator_%20_activity_%20_(GO:0036470)_%7C_ubiquitin-specific_%20_protease_%20_binding_%20_(GO:1990381)||||true|false||false|false|||false|false|false|PARK7:11315|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|749774196|8029464|false|false|0|false|0|true||false|false|false|SNV|false|0x050000080305000402000100|1|false|144|rs749774196|] +1 8045014 indel.625 GGCC G . PASS FUNCOTATION=[PARK7|hg19|chr1|8045015|8045017|IN_FRAME_DEL||DEL|GCC|GCC|-|g.chr1:8045015_8045017delGCC|ENST00000493678.1|+|7|537_539|c.471_473delGCC|c.(469-474)gggcct>ggt|p.P158del|0.4466501240694789|CAAGCCGGGGGCCTGGGACCAGC|PARK7_ENST00000377491.1_IN_FRAME_DEL_p.P158del/PARK7_ENST00000338639.5_IN_FRAME_DEL_p.P158del/PARK7_ENST00000377488.1_IN_FRAME_DEL_p.P158del/PARK7_ENST00000377493.5_IN_FRAME_DEL_p.P138del/Y_RNA_ENST00000363474.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||D61380|||HGNC:16369|Parkinsonism_%20_associated_%20_deglycase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Parkinson_%20_disease_%20_(autosomal_%20_recessive_%2C__%20_early_%20_onset)_%20_7"_%2C__%20_"parkinson_%20_protein_%20_7"|DJ-1_%2C__%20_DJ1_%2C__%20_GATD2||1p36.23|2017-07-25||2016-02-15|D61380||11315|ENSG00000116288|11462174_%2C__%20_9070310_%2C__%20_25416785_%2C__%20_28596309|NM_007262|672_%7C_1408|Parkinson_%20_disease_%20_associated_%20_genes_%7C_Glutamine_%20_amidotransferase_%20_like_%20_class_%20_1_%20_domain_%20_containing|CCDS93|OTTHUMG00000001210|11315|602533|NM_001123377|Q99497|ENSG00000116288|uc057byc.1|PARK7_HUMAN||B2R4Z1_%7C_O14805_%7C_Q6DR95_%7C_Q7LFU2|Q99497|adult_%20_locomotory_%20_behavior_%20_(GO:0008344)_%7C_autophagy_%20_(GO:0006914)_%7C_cellular_%20_response_%20_to_%20_glyoxal_%20_(GO:0036471)_%7C_cellular_%20_response_%20_to_%20_hydrogen_%20_peroxide_%20_(GO:0070301)_%7C_cellular_%20_response_%20_to_%20_oxidative_%20_stress_%20_(GO:0034599)_%7C_dopamine_%20_uptake_%20_involved_%20_in_%20_synaptic_%20_transmission_%20_(GO:0051583)_%7C_glycolate_%20_biosynthetic_%20_process_%20_(GO:0046295)_%7C_glyoxal_%20_catabolic_%20_process_%20_(GO:1903190)_%7C_hydrogen_%20_peroxide_%20_metabolic_%20_process_%20_(GO:0042743)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_lactate_%20_biosynthetic_%20_process_%20_(GO:0019249)_%7C_membrane_%20_depolarization_%20_(GO:0051899)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_methylglyoxal_%20_catabolic_%20_process_%20_to_%20_D-lactate_%20_(GO:0019243)_%7C_mitochondrion_%20_organization_%20_(GO:0007005)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_death_%20_(GO:0060548)_%7C_negative_%20_regulation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001268)_%7C_negative_%20_regulation_%20_of_%20_death-inducing_%20_signaling_%20_complex_%20_assembly_%20_(GO:1903073)_%7C_negative_%20_regulation_%20_of_%20_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001237)_%7C_negative_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0010629)_%7C_negative_%20_regulation_%20_of_%20_hydrogen_%20_peroxide-induced_%20_cell_%20_death_%20_(GO:1903206)_%7C_negative_%20_regulation_%20_of_%20_hydrogen_%20_peroxide-induced_%20_neuron_%20_death_%20_(GO:1903208)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_death_%20_(GO:1901215)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_cell_%20_death_%20_(GO:1903202)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_neuron_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1903377)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_acetylation_%20_(GO:1901984)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_export_%20_from_%20_nucleus_%20_(GO:0046826)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_K48-linked_%20_deubiquitination_%20_(GO:1903094)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_phosphorylation_%20_(GO:0001933)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_sumoylation_%20_(GO:0033234)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_TRAIL-activated_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1903122)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0051444)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-specific_%20_protease_%20_activity_%20_(GO:2000157)_%7C_positive_%20_regulation_%20_of_%20_androgen_%20_receptor_%20_activity_%20_(GO:2000825)_%7C_positive_%20_regulation_%20_of_%20_dopamine_%20_biosynthetic_%20_process_%20_(GO:1903181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-8_%20_production_%20_(GO:0032757)_%7C_positive_%20_regulation_%20_of_%20_L-dopa_%20_biosynthetic_%20_process_%20_(GO:1903197)_%7C_positive_%20_regulation_%20_of_%20_L-dopa_%20_decarboxylase_%20_activity_%20_(GO:1903200)_%7C_positive_%20_regulation_%20_of_%20_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:1902958)_%7C_positive_%20_regulation_%20_of_%20_oxidative_%20_phosphorylation_%20_uncoupler_%20_activity_%20_(GO:2000277)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_homodimerization_%20_activity_%20_(GO:0090073)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:1900182)_%7C_positive_%20_regulation_%20_of_%20_pyrroline-5-carboxylate_%20_reductase_%20_activity_%20_(GO:1903168)_%7C_positive_%20_regulation_%20_of_%20_superoxide_%20_dismutase_%20_activity_%20_(GO:1901671)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_tyrosine_%20_3-monooxygenase_%20_activity_%20_(GO:1903178)_%7C_protein_%20_stabilization_%20_(GO:0050821)_%7C_regulation_%20_of_%20_androgen_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0060765)_%7C_regulation_%20_of_%20_fibril_%20_organization_%20_(GO:1902903)_%7C_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050727)_%7C_regulation_%20_of_%20_mitochondrial_%20_membrane_%20_potential_%20_(GO:0051881)_%7C_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043523)_%7C_single_%20_fertilization_%20_(GO:0007338)|chromatin_%20_(GO:0000785)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_PML_%20_body_%20_(GO:0016605)|androgen_%20_receptor_%20_binding_%20_(GO:0050681)_%7C_cupric_%20_ion_%20_binding_%20_(GO:1903135)_%7C_cuprous_%20_ion_%20_binding_%20_(GO:1903136)_%7C_cytokine_%20_binding_%20_(GO:0019955)_%7C_enzyme_%20_binding_%20_(GO:0019899)_%7C_glyoxalase_%20_(glycolic_%20_acid-forming)_%20_activity_%20_(GO:1990422)_%7C_glyoxalase_%20_III_%20_activity_%20_(GO:0019172)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_L-dopa_%20_decarboxylase_%20_activator_%20_activity_%20_(GO:0036478)_%7C_mRNA_%20_binding_%20_(GO:0003729)_%7C_oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_peroxide_%20_as_%20_acceptor_%20_(GO:0016684)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_peroxidase_%20_activity_%20_(GO:0004601)_%7C_peroxiredoxin_%20_activity_%20_(GO:0051920)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_receptor_%20_binding_%20_(GO:0005102)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_RNA_%20_binding_%20_(GO:0003723)_%7C_scaffold_%20_protein_%20_binding_%20_(GO:0097110)_%7C_small_%20_protein_%20_activating_%20_enzyme_%20_binding_%20_(GO:0044388)_%7C_small_%20_protein_%20_conjugating_%20_enzyme_%20_binding_%20_(GO:0044390)_%7C_superoxide_%20_dismutase_%20_copper_%20_chaperone_%20_activity_%20_(GO:0016532)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)_%7C_tyrosine_%20_3-monooxygenase_%20_activator_%20_activity_%20_(GO:0036470)_%7C_ubiquitin-specific_%20_protease_%20_binding_%20_(GO:1990381)||||true|false||false|false|||false|false|false|PARK7:11315|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|764877312|8045015|false|false|0|false|0|false||false|false|false|DIV|true|0x050000000005040402000200|1|false|144|rs764877312|] +1 8073830 exm11005 C T . PASS FUNCOTATION=[ERRFI1|hg19|chr1|8073830|8073830|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:8073830C>T|ENST00000469499.1|-|3|||||0.48877805486284287|TTGTCTTCATCGGAGTTAGGA|ERRFI1_ENST00000474874.1_INTRON/ERRFI1_ENST00000377482.5_MISSENSE_p.D277N/ERRFI1_ENST00000467067.1_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||AL034417|||HGNC:18185|ERBB_%20_receptor_%20_feedback_%20_inhibitor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MIG-6_%2C__%20_GENE-33_%2C__%20_RALT||1p36.23|2014-11-19|||BC025337||54206|ENSG00000116285|10749885_%2C__%20_2780291_%2C__%20_12226756_%2C__%20_11003669|NM_018948|||CCDS94|OTTHUMG00000001221|54206|608069|NM_018948|Q9UJM3|ENSG00000116285|uc001aoz.4|ERRFI_HUMAN||B2RDX9_%7C_Q9NTG9_%7C_Q9UD05|Q9UJM3|lung_%20_alveolus_%20_development_%20_(GO:0048286)_%7C_lung_%20_epithelium_%20_development_%20_(GO:0060428)_%7C_lung_%20_vasculature_%20_development_%20_(GO:0060426)_%7C_negative_%20_regulation_%20_of_%20_epidermal_%20_growth_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0007175)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_autophosphorylation_%20_(GO:0031953)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_regulation_%20_of_%20_keratinocyte_%20_differentiation_%20_(GO:0045616)_%7C_response_%20_to_%20_stress_%20_(GO:0006950)_%7C_skin_%20_morphogenesis_%20_(GO:0043589)|cytoplasm_%20_(GO:0005737)_%7C_extrinsic_%20_component_%20_of_%20_cytoplasmic_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0031234)_%7C_nucleus_%20_(GO:0005634)|protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rho_%20_GTPase_%20_activator_%20_activity_%20_(GO:0005100)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8073919 exm11011 C T . PASS FUNCOTATION=[ERRFI1|hg19|chr1|8073919|8073919|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:8073919C>T|ENST00000469499.1|-|3|||||0.46384039900249374|ATGAGACCTTCTTAATCTTCG|ERRFI1_ENST00000474874.1_INTRON/ERRFI1_ENST00000377482.5_MISSENSE_p.R247K/ERRFI1_ENST00000467067.1_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||AL034417|||HGNC:18185|ERBB_%20_receptor_%20_feedback_%20_inhibitor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MIG-6_%2C__%20_GENE-33_%2C__%20_RALT||1p36.23|2014-11-19|||BC025337||54206|ENSG00000116285|10749885_%2C__%20_2780291_%2C__%20_12226756_%2C__%20_11003669|NM_018948|||CCDS94|OTTHUMG00000001221|54206|608069|NM_018948|Q9UJM3|ENSG00000116285|uc001aoz.4|ERRFI_HUMAN||B2RDX9_%7C_Q9NTG9_%7C_Q9UD05|Q9UJM3|lung_%20_alveolus_%20_development_%20_(GO:0048286)_%7C_lung_%20_epithelium_%20_development_%20_(GO:0060428)_%7C_lung_%20_vasculature_%20_development_%20_(GO:0060426)_%7C_negative_%20_regulation_%20_of_%20_epidermal_%20_growth_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0007175)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_autophosphorylation_%20_(GO:0031953)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_regulation_%20_of_%20_keratinocyte_%20_differentiation_%20_(GO:0045616)_%7C_response_%20_to_%20_stress_%20_(GO:0006950)_%7C_skin_%20_morphogenesis_%20_(GO:0043589)|cytoplasm_%20_(GO:0005737)_%7C_extrinsic_%20_component_%20_of_%20_cytoplasmic_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0031234)_%7C_nucleus_%20_(GO:0005634)|protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rho_%20_GTPase_%20_activator_%20_activity_%20_(GO:0005100)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8073925 exm11013 C T . PASS FUNCOTATION=[ERRFI1|hg19|chr1|8073925|8073925|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:8073925C>T|ENST00000469499.1|-|3|||||0.46384039900249374|CCTTCTTAATCTTCGGTGGGT|ERRFI1_ENST00000474874.1_INTRON/ERRFI1_ENST00000377482.5_MISSENSE_p.R245K/ERRFI1_ENST00000467067.1_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||AL034417|||HGNC:18185|ERBB_%20_receptor_%20_feedback_%20_inhibitor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MIG-6_%2C__%20_GENE-33_%2C__%20_RALT||1p36.23|2014-11-19|||BC025337||54206|ENSG00000116285|10749885_%2C__%20_2780291_%2C__%20_12226756_%2C__%20_11003669|NM_018948|||CCDS94|OTTHUMG00000001221|54206|608069|NM_018948|Q9UJM3|ENSG00000116285|uc001aoz.4|ERRFI_HUMAN||B2RDX9_%7C_Q9NTG9_%7C_Q9UD05|Q9UJM3|lung_%20_alveolus_%20_development_%20_(GO:0048286)_%7C_lung_%20_epithelium_%20_development_%20_(GO:0060428)_%7C_lung_%20_vasculature_%20_development_%20_(GO:0060426)_%7C_negative_%20_regulation_%20_of_%20_epidermal_%20_growth_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0007175)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_autophosphorylation_%20_(GO:0031953)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_regulation_%20_of_%20_keratinocyte_%20_differentiation_%20_(GO:0045616)_%7C_response_%20_to_%20_stress_%20_(GO:0006950)_%7C_skin_%20_morphogenesis_%20_(GO:0043589)|cytoplasm_%20_(GO:0005737)_%7C_extrinsic_%20_component_%20_of_%20_cytoplasmic_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0031234)_%7C_nucleus_%20_(GO:0005634)|protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rho_%20_GTPase_%20_activator_%20_activity_%20_(GO:0005100)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8073943 exm11015 G A . PASS FUNCOTATION=[ERRFI1|hg19|chr1|8073943|8073943|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:8073943G>A|ENST00000469499.1|-|3|||||0.45885286783042395|GGTCTGAGGTGGAGGAGGATT|ERRFI1_ENST00000474874.1_INTRON/ERRFI1_ENST00000377482.5_MISSENSE_p.P239L/ERRFI1_ENST00000467067.1_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||AL034417|||HGNC:18185|ERBB_%20_receptor_%20_feedback_%20_inhibitor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MIG-6_%2C__%20_GENE-33_%2C__%20_RALT||1p36.23|2014-11-19|||BC025337||54206|ENSG00000116285|10749885_%2C__%20_2780291_%2C__%20_12226756_%2C__%20_11003669|NM_018948|||CCDS94|OTTHUMG00000001221|54206|608069|NM_018948|Q9UJM3|ENSG00000116285|uc001aoz.4|ERRFI_HUMAN||B2RDX9_%7C_Q9NTG9_%7C_Q9UD05|Q9UJM3|lung_%20_alveolus_%20_development_%20_(GO:0048286)_%7C_lung_%20_epithelium_%20_development_%20_(GO:0060428)_%7C_lung_%20_vasculature_%20_development_%20_(GO:0060426)_%7C_negative_%20_regulation_%20_of_%20_epidermal_%20_growth_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0007175)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_autophosphorylation_%20_(GO:0031953)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_regulation_%20_of_%20_keratinocyte_%20_differentiation_%20_(GO:0045616)_%7C_response_%20_to_%20_stress_%20_(GO:0006950)_%7C_skin_%20_morphogenesis_%20_(GO:0043589)|cytoplasm_%20_(GO:0005737)_%7C_extrinsic_%20_component_%20_of_%20_cytoplasmic_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0031234)_%7C_nucleus_%20_(GO:0005634)|protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rho_%20_GTPase_%20_activator_%20_activity_%20_(GO:0005100)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8074094 exm11021 A G . PASS FUNCOTATION=[ERRFI1|hg19|chr1|8074094|8074094|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:8074094A>G|ENST00000469499.1|-|3|||||0.49625935162094764|TTGAAATCAGAAAGTGTAGAG|ERRFI1_ENST00000474874.1_INTRON/ERRFI1_ENST00000377482.5_MISSENSE_p.S189P/ERRFI1_ENST00000467067.1_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||AL034417|||HGNC:18185|ERBB_%20_receptor_%20_feedback_%20_inhibitor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MIG-6_%2C__%20_GENE-33_%2C__%20_RALT||1p36.23|2014-11-19|||BC025337||54206|ENSG00000116285|10749885_%2C__%20_2780291_%2C__%20_12226756_%2C__%20_11003669|NM_018948|||CCDS94|OTTHUMG00000001221|54206|608069|NM_018948|Q9UJM3|ENSG00000116285|uc001aoz.4|ERRFI_HUMAN||B2RDX9_%7C_Q9NTG9_%7C_Q9UD05|Q9UJM3|lung_%20_alveolus_%20_development_%20_(GO:0048286)_%7C_lung_%20_epithelium_%20_development_%20_(GO:0060428)_%7C_lung_%20_vasculature_%20_development_%20_(GO:0060426)_%7C_negative_%20_regulation_%20_of_%20_epidermal_%20_growth_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0007175)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_autophosphorylation_%20_(GO:0031953)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_regulation_%20_of_%20_keratinocyte_%20_differentiation_%20_(GO:0045616)_%7C_response_%20_to_%20_stress_%20_(GO:0006950)_%7C_skin_%20_morphogenesis_%20_(GO:0043589)|cytoplasm_%20_(GO:0005737)_%7C_extrinsic_%20_component_%20_of_%20_cytoplasmic_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0031234)_%7C_nucleus_%20_(GO:0005634)|protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rho_%20_GTPase_%20_activator_%20_activity_%20_(GO:0005100)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8074187 exm11027 T G . PASS FUNCOTATION=[ERRFI1|hg19|chr1|8074187|8074187|THREE_PRIME_UTR||SNP|T|T|G|g.chr1:8074187T>G|ENST00000469499.1|-|3|||||0.47381546134663344|GCTTCAGAGATTGGCAACGGT|ERRFI1_ENST00000474874.1_INTRON/ERRFI1_ENST00000377482.5_MISSENSE_p.I158L/ERRFI1_ENST00000467067.1_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||AL034417|||HGNC:18185|ERBB_%20_receptor_%20_feedback_%20_inhibitor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MIG-6_%2C__%20_GENE-33_%2C__%20_RALT||1p36.23|2014-11-19|||BC025337||54206|ENSG00000116285|10749885_%2C__%20_2780291_%2C__%20_12226756_%2C__%20_11003669|NM_018948|||CCDS94|OTTHUMG00000001221|54206|608069|NM_018948|Q9UJM3|ENSG00000116285|uc001aoz.4|ERRFI_HUMAN||B2RDX9_%7C_Q9NTG9_%7C_Q9UD05|Q9UJM3|lung_%20_alveolus_%20_development_%20_(GO:0048286)_%7C_lung_%20_epithelium_%20_development_%20_(GO:0060428)_%7C_lung_%20_vasculature_%20_development_%20_(GO:0060426)_%7C_negative_%20_regulation_%20_of_%20_epidermal_%20_growth_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0007175)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_autophosphorylation_%20_(GO:0031953)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_regulation_%20_of_%20_keratinocyte_%20_differentiation_%20_(GO:0045616)_%7C_response_%20_to_%20_stress_%20_(GO:0006950)_%7C_skin_%20_morphogenesis_%20_(GO:0043589)|cytoplasm_%20_(GO:0005737)_%7C_extrinsic_%20_component_%20_of_%20_cytoplasmic_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0031234)_%7C_nucleus_%20_(GO:0005634)|protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rho_%20_GTPase_%20_activator_%20_activity_%20_(GO:0005100)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8074334 exm11035 C T . PASS FUNCOTATION=[ERRFI1|hg19|chr1|8074334|8074334|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:8074334C>T|ENST00000469499.1|-|3|||||0.48877805486284287|ACAACTTGATCCTCTTCATGT|ERRFI1_ENST00000474874.1_INTRON/ERRFI1_ENST00000377482.5_MISSENSE_p.D109N/ERRFI1_ENST00000467067.1_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||AL034417|||HGNC:18185|ERBB_%20_receptor_%20_feedback_%20_inhibitor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MIG-6_%2C__%20_GENE-33_%2C__%20_RALT||1p36.23|2014-11-19|||BC025337||54206|ENSG00000116285|10749885_%2C__%20_2780291_%2C__%20_12226756_%2C__%20_11003669|NM_018948|||CCDS94|OTTHUMG00000001221|54206|608069|NM_018948|Q9UJM3|ENSG00000116285|uc001aoz.4|ERRFI_HUMAN||B2RDX9_%7C_Q9NTG9_%7C_Q9UD05|Q9UJM3|lung_%20_alveolus_%20_development_%20_(GO:0048286)_%7C_lung_%20_epithelium_%20_development_%20_(GO:0060428)_%7C_lung_%20_vasculature_%20_development_%20_(GO:0060426)_%7C_negative_%20_regulation_%20_of_%20_epidermal_%20_growth_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0007175)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_autophosphorylation_%20_(GO:0031953)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_regulation_%20_of_%20_keratinocyte_%20_differentiation_%20_(GO:0045616)_%7C_response_%20_to_%20_stress_%20_(GO:0006950)_%7C_skin_%20_morphogenesis_%20_(GO:0043589)|cytoplasm_%20_(GO:0005737)_%7C_extrinsic_%20_component_%20_of_%20_cytoplasmic_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0031234)_%7C_nucleus_%20_(GO:0005634)|protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rho_%20_GTPase_%20_activator_%20_activity_%20_(GO:0005100)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8094200 rs11799555 T G . PASS FUNCOTATION=[RP11-431K24.1|hg19|chr1|8094200|8094200|LINCRNA||SNP|T|T|G|g.chr1:8094200T>G|ENST00000445300.1|+|||c.e2+4783T>G|||0.3865336658354115|TATGCACAGATTTTTGGAGAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8095500 rs225132 T G . PASS FUNCOTATION=[RP11-431K24.1|hg19|chr1|8095500|8095500|LINCRNA||SNP|T|T|G|g.chr1:8095500T>G|ENST00000445300.1|+|||c.e2+6083T>G|||0.486284289276808|TGTAGGAATTTGTTGCATTCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8098462 rs225133 G A . PASS FUNCOTATION=[RP11-431K24.1|hg19|chr1|8098462|8098462|LINCRNA||SNP|G|G|A|g.chr1:8098462G>A|ENST00000445300.1|+|||c.e2+9045G>A|||0.341645885286783|CATTTGTCCTGTCTCATTAGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8106987 rs17032042 T G . PASS FUNCOTATION=[RP11-431K24.1|hg19|chr1|8106987|8106987|LINCRNA||SNP|T|T|G|g.chr1:8106987T>G|ENST00000445300.1|+|||c.e2+17570T>G|||0.371571072319202|TTTTGTCATTTTTGCAGATAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8118634 rs7525428 T C . PASS FUNCOTATION=[RP11-431K24.1|hg19|chr1|8118634|8118634|LINCRNA||SNP|T|T|C|g.chr1:8118634T>C|ENST00000445300.1|+|||c.e2+29217T>C|||0.513715710723192|TTGATTACCATGTACTCCCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8119251 rs4908724 G T . PASS FUNCOTATION=[RP11-431K24.1|hg19|chr1|8119251|8119251|LINCRNA||SNP|G|G|T|g.chr1:8119251G>T|ENST00000445300.1|+|||c.e2+29834G>T|||0.33915211970074816|CTGTTCTCATGATCTTGAAGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8160832 rs12081139 C T . PASS FUNCOTATION=[RP11-431K24.1|hg19|chr1|8160832|8160832|LINCRNA||SNP|C|C|T|g.chr1:8160832C>T|ENST00000445300.1|+|||c.e3-20702C>T|||0.4488778054862843|GTAAAACCAGCGAAGTCAAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8168564 rs10864330 C T . PASS FUNCOTATION=[RP11-431K24.1|hg19|chr1|8168564|8168564|LINCRNA||SNP|C|C|T|g.chr1:8168564C>T|ENST00000445300.1|+|||c.e3-12970C>T|||0.42643391521197005|AAGGAACTATCGAGCCCAGGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8177482 psy_rs77896802 A G . PASS FUNCOTATION=[RP11-431K24.1|hg19|chr1|8177482|8177482|LINCRNA||SNP|A|A|G|g.chr1:8177482A>G|ENST00000445300.1|+|||c.e3-4052A>G|||0.4314214463840399|GATGGTGGAAATTTTGTAAAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8180210 rs7523335 G A . PASS FUNCOTATION=[RP11-431K24.1|hg19|chr1|8180210|8180210|LINCRNA||SNP|G|G|A|g.chr1:8180210G>A|ENST00000445300.1|+|||c.e3-1324G>A|||0.4339152119700748|CTCTCCTCACGGTAGCCCACA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8182535 rs6577466 G T . PASS FUNCOTATION=[RP11-431K24.1|hg19|chr1|8182535|8182535|LINCRNA||SNP|G|G|T|g.chr1:8182535G>T|ENST00000445300.1|+|||c.e3-227G>T|||0.48129675810473815|GTTTGTTACAGTTTTACTAAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8274018 rs390468 G A . PASS FUNCOTATION=[RP11-431K24.3|hg19|chr1|8274018|8274018|LINCRNA||SNP|G|G|A|g.chr1:8274018G>A|ENST00000452982.1|+|||c.e3-667G>A|||0.42643391521197005|AAGGCCATGGGGTTAGTAAGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8278899 rs428180 A C . PASS FUNCOTATION=[RP11-431K24.4|hg19|chr1|8278899|8278899|LINCRNA||SNP|A|A|C|g.chr1:8278899A>C|ENST00000424689.1|-|||c.e2+306T>G|||0.48877805486284287|TGACTTGGTTATTGCGTCACT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8280517 rs10864340 C T . PASS FUNCOTATION=[RP11-431K24.4|hg19|chr1|8280517|8280517|LINCRNA||SNP|C|C|T|g.chr1:8280517C>T|ENST00000424689.1|-|||c.e1+60G>A|||0.49875311720698257|TGCGACCACACAAGCAAGCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8352240 psy_rs72862684 C T . PASS FUNCOTATION=[RNU6-991P|hg19|chr1|8352240|8352240|RNA||SNP|C|C|T|g.chr1:8352240C>T|ENST00000516168.1|-|||c.e1+23G>A|||0.40399002493765584|GTTTCATGAACCCGCTGGTCA|||||||||||||||||||||||||||||||||||||HGNC:47954|RNA_%2C__%20_U6_%20_small_%20_nuclear_%20_991_%2C__%20_pseudogene|Approved|pseudogene|pseudogene|||||1p36.23|2013-05-01|||||106480004|ENSG00000251977|||||||106480004||NG_043949||ENSG00000251977||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8384785 exm2275212 C T . PASS FUNCOTATION=[SLC45A1|hg19|chr1|8384785|8384785|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:8384785C>T|ENST00000471889.1|+|2|781|c.396C>T|c.(394-396)ctC>ctT|p.L132L|0.5910224438902744|GCCCCATCCTCGGTGAGCCCC|SLC45A1_ENST00000289877.8_SPLICE_SITE_p.L132L/SLC45A1_ENST00000377479.2_SPLICE_SITE_p.L166L/Y_RNA_ENST00000516445.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AL356072|||HGNC:17939|solute_%20_carrier_%20_family_%20_45_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DNB5|"deleted_%20_in_%20_neuroblastoma_%20_5"_%2C__%20_"solute_%20_carrier_%20_family_%20_45_%2C__%20_member_%20_1"||"H+/sugar_%20_symporter"|1p36.23|2016-04-25|2005-10-04|2015-12-08|AF118274||50651|ENSG00000162426|10729226||752|Solute_%20_carriers|CCDS30577|OTTHUMG00000000503|50651|605763|NM_001080397|Q9Y2W3|ENSG00000162426|uc001apb.3|S45A1_HUMAN||Q5VY46_%7C_Q5VY49|Q9Y2W3|carbohydrate_%20_transport_%20_(GO:0008643)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|symporter_%20_activity_%20_(GO:0015293)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8384785 exm2275212 C T . PASS FUNCOTATION=[SLC45A1|hg19|chr1|8384785|8384785|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:8384785C>T|ENST00000471889.1|+|2|781|c.396C>T|c.(394-396)ctC>ctT|p.L132L|0.5910224438902744|GCCCCATCCTCGGTGAGCCCC|SLC45A1_ENST00000289877.8_SPLICE_SITE_p.L132L/SLC45A1_ENST00000377479.2_SPLICE_SITE_p.L166L/Y_RNA_ENST00000516445.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AL356072|||HGNC:17939|solute_%20_carrier_%20_family_%20_45_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DNB5|"deleted_%20_in_%20_neuroblastoma_%20_5"_%2C__%20_"solute_%20_carrier_%20_family_%20_45_%2C__%20_member_%20_1"||"H+/sugar_%20_symporter"|1p36.23|2016-04-25|2005-10-04|2015-12-08|AF118274||50651|ENSG00000162426|10729226||752|Solute_%20_carriers|CCDS30577|OTTHUMG00000000503|50651|605763|NM_001080397|Q9Y2W3|ENSG00000162426|uc001apb.3|S45A1_HUMAN||Q5VY46_%7C_Q5VY49|Q9Y2W3|carbohydrate_%20_transport_%20_(GO:0008643)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|symporter_%20_activity_%20_(GO:0015293)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8390888 rs2289731 G A . PASS FUNCOTATION=[SLC45A1|hg19|chr1|8390888|8390888|SILENT||SNP|G|G|A|g.chr1:8390888G>A|ENST00000471889.1|+|5|1720|c.1335G>A|c.(1333-1335)ccG>ccA|p.P445P|0.6384039900249376|CCTCTAAGCCGAGGTCATCAG|SLC45A1_ENST00000289877.8_SILENT_p.P445P/SLC45A1_ENST00000377479.2_SILENT_p.P479P/SLC45A1_ENST00000481265.1_INTRON|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AL356072|||HGNC:17939|solute_%20_carrier_%20_family_%20_45_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DNB5|"deleted_%20_in_%20_neuroblastoma_%20_5"_%2C__%20_"solute_%20_carrier_%20_family_%20_45_%2C__%20_member_%20_1"||"H+/sugar_%20_symporter"|1p36.23|2016-04-25|2005-10-04|2015-12-08|AF118274||50651|ENSG00000162426|10729226||752|Solute_%20_carriers|CCDS30577|OTTHUMG00000000503|50651|605763|NM_001080397|Q9Y2W3|ENSG00000162426|uc001apb.3|S45A1_HUMAN||Q5VY46_%7C_Q5VY49|Q9Y2W3|carbohydrate_%20_transport_%20_(GO:0008643)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|symporter_%20_activity_%20_(GO:0015293)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8399759 chr1_8399759 G A . PASS FUNCOTATION=[SLC45A1|hg19|chr1|8399759|8399759|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:8399759G>A|ENST00000471889.1|+|||c.e8+1G>A|c.e8+1||0.5635910224438903|GAGTAAGAAGGTAAGTGCTCT|SLC45A1_ENST00000289877.8_SPLICE_SITE/SLC45A1_ENST00000377479.2_SPLICE_SITE|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AL356072|||HGNC:17939|solute_%20_carrier_%20_family_%20_45_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DNB5|"deleted_%20_in_%20_neuroblastoma_%20_5"_%2C__%20_"solute_%20_carrier_%20_family_%20_45_%2C__%20_member_%20_1"||"H+/sugar_%20_symporter"|1p36.23|2016-04-25|2005-10-04|2015-12-08|AF118274||50651|ENSG00000162426|10729226||752|Solute_%20_carriers|CCDS30577|OTTHUMG00000000503|50651|605763|NM_001080397|Q9Y2W3|ENSG00000162426|uc001apb.3|S45A1_HUMAN||Q5VY46_%7C_Q5VY49|Q9Y2W3|carbohydrate_%20_transport_%20_(GO:0008643)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|symporter_%20_activity_%20_(GO:0015293)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8404093 psy_rs1055236 C T . PASS FUNCOTATION=[SLC45A1|hg19|chr1|8404093|8404093|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:8404093C>T|ENST00000471889.1|+|9|||||0.5860349127182045|GCCTCGACTCCGGACACGCGC|SLC45A1_ENST00000289877.8_THREE_PRIME_UTR/SLC45A1_ENST00000377479.2_THREE_PRIME_UTR|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AL356072|||HGNC:17939|solute_%20_carrier_%20_family_%20_45_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DNB5|"deleted_%20_in_%20_neuroblastoma_%20_5"_%2C__%20_"solute_%20_carrier_%20_family_%20_45_%2C__%20_member_%20_1"||"H+/sugar_%20_symporter"|1p36.23|2016-04-25|2005-10-04|2015-12-08|AF118274||50651|ENSG00000162426|10729226||752|Solute_%20_carriers|CCDS30577|OTTHUMG00000000503|50651|605763|NM_001080397|Q9Y2W3|ENSG00000162426|uc001apb.3|S45A1_HUMAN||Q5VY46_%7C_Q5VY49|Q9Y2W3|carbohydrate_%20_transport_%20_(GO:0008643)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|symporter_%20_activity_%20_(GO:0015293)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8412935 rs8627 C T . PASS FUNCOTATION=[RERE|hg19|chr1|8412935|8412935|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:8412935C>T|ENST00000337907.3|-|24|||||0.49625935162094764|CTTCGGACGGCTTTCAAGCAC|RERE_ENST00000377464.1_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||AL357713|NM_012102.3|NP_036234.3|HGNC:9965|arginine-glutamic_%20_acid_%20_dipeptide_%20_repeats|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ATN1L|"arginine-glutamic_%20_acid_%20_dipeptide_%20_(RE)_%20_repeats"|KIAA0458_%2C__%20_ARP_%2C__%20_ARG_%2C__%20_DNB1||1p36.23|2016-04-05||2016-04-05|AF016005||473|ENSG00000142599|10814707_%2C__%20_10729226||82_%7C_532|GATA_%20_zinc_%20_finger_%20_domain_%20_containing_%7C_Myb/SANT_%20_domain_%20_containing|CCDS95_%2C__%20_CCDS41243|OTTHUMG00000001765|473|605226|NM_001042681|Q9P2R6|ENSG00000142599|uc001ape.4|RERE_HUMAN||O43393_%7C_O75046_%7C_O75359_%7C_Q5VXL9_%7C_Q6P6B9_%7C_Q9Y2W4|Q9P2R6|chromatin_%20_remodeling_%20_(GO:0006338)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_NLS-bearing_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006607)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|histone_%20_deacetylase_%20_complex_%20_(GO:0000118)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_poly-glutamine_%20_tract_%20_binding_%20_(GO:0008267)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8412989 psy_rs1064826 A G . PASS FUNCOTATION=[RERE|hg19|chr1|8412989|8412989|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:8412989A>G|ENST00000337907.3|-|24|||||0.5087281795511222|ATGGATGCCAAAGGAGGAGAT|RERE_ENST00000377464.1_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||AL357713|NM_012102.3|NP_036234.3|HGNC:9965|arginine-glutamic_%20_acid_%20_dipeptide_%20_repeats|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ATN1L|"arginine-glutamic_%20_acid_%20_dipeptide_%20_(RE)_%20_repeats"|KIAA0458_%2C__%20_ARP_%2C__%20_ARG_%2C__%20_DNB1||1p36.23|2016-04-05||2016-04-05|AF016005||473|ENSG00000142599|10814707_%2C__%20_10729226||82_%7C_532|GATA_%20_zinc_%20_finger_%20_domain_%20_containing_%7C_Myb/SANT_%20_domain_%20_containing|CCDS95_%2C__%20_CCDS41243|OTTHUMG00000001765|473|605226|NM_001042681|Q9P2R6|ENSG00000142599|uc001ape.4|RERE_HUMAN||O43393_%7C_O75046_%7C_O75359_%7C_Q5VXL9_%7C_Q6P6B9_%7C_Q9Y2W4|Q9P2R6|chromatin_%20_remodeling_%20_(GO:0006338)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_NLS-bearing_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006607)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|histone_%20_deacetylase_%20_complex_%20_(GO:0000118)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_poly-glutamine_%20_tract_%20_binding_%20_(GO:0008267)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8416160 exm11230 C T . PASS FUNCOTATION=[RERE|hg19|chr1|8416160|8416160|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:8416160C>T|ENST00000337907.3|-|22|5121|c.4486G>A|c.(4486-4488)Ggc>Agc|p.G1496S|0.6084788029925187|GAAGTCTTACCGAAAACTGGG|RERE_ENST00000400908.2_SPLICE_SITE_p.G1496S/RERE_ENST00000377464.1_SPLICE_SITE_p.G1228S/RERE_ENST00000476556.1_SPLICE_SITE_p.G942S/RERE_ENST00000400907.2_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||AL357713|NM_012102.3|NP_036234.3|HGNC:9965|arginine-glutamic_%20_acid_%20_dipeptide_%20_repeats|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ATN1L|"arginine-glutamic_%20_acid_%20_dipeptide_%20_(RE)_%20_repeats"|KIAA0458_%2C__%20_ARP_%2C__%20_ARG_%2C__%20_DNB1||1p36.23|2016-04-05||2016-04-05|AF016005||473|ENSG00000142599|10814707_%2C__%20_10729226||82_%7C_532|GATA_%20_zinc_%20_finger_%20_domain_%20_containing_%7C_Myb/SANT_%20_domain_%20_containing|CCDS95_%2C__%20_CCDS41243|OTTHUMG00000001765|473|605226|NM_001042681|Q9P2R6|ENSG00000142599|uc001ape.4|RERE_HUMAN||O43393_%7C_O75046_%7C_O75359_%7C_Q5VXL9_%7C_Q6P6B9_%7C_Q9Y2W4|Q9P2R6|chromatin_%20_remodeling_%20_(GO:0006338)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_NLS-bearing_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006607)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|histone_%20_deacetylase_%20_complex_%20_(GO:0000118)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_poly-glutamine_%20_tract_%20_binding_%20_(GO:0008267)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8420270 exm1912798 G A . PASS FUNCOTATION=[RERE|hg19|chr1|8420270|8420270|SILENT||SNP|G|G|A|g.chr1:8420270G>A|ENST00000337907.3|-|19|3932|c.3297C>T|c.(3295-3297)gaC>gaT|p.D1099D|0.6982543640897756|CCTCAGCGTCGTCCAGAGCCT|RERE_ENST00000400908.2_SILENT_p.D1099D/RERE_ENST00000377464.1_SILENT_p.D831D/RERE_ENST00000476556.1_SILENT_p.D545D/RERE_ENST00000400907.2_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||AL357713|NM_012102.3|NP_036234.3|HGNC:9965|arginine-glutamic_%20_acid_%20_dipeptide_%20_repeats|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ATN1L|"arginine-glutamic_%20_acid_%20_dipeptide_%20_(RE)_%20_repeats"|KIAA0458_%2C__%20_ARP_%2C__%20_ARG_%2C__%20_DNB1||1p36.23|2016-04-05||2016-04-05|AF016005||473|ENSG00000142599|10814707_%2C__%20_10729226||82_%7C_532|GATA_%20_zinc_%20_finger_%20_domain_%20_containing_%7C_Myb/SANT_%20_domain_%20_containing|CCDS95_%2C__%20_CCDS41243|OTTHUMG00000001765|473|605226|NM_001042681|Q9P2R6|ENSG00000142599|uc001ape.4|RERE_HUMAN||O43393_%7C_O75046_%7C_O75359_%7C_Q5VXL9_%7C_Q6P6B9_%7C_Q9Y2W4|Q9P2R6|chromatin_%20_remodeling_%20_(GO:0006338)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_NLS-bearing_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006607)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|histone_%20_deacetylase_%20_complex_%20_(GO:0000118)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_poly-glutamine_%20_tract_%20_binding_%20_(GO:0008267)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8425900 rs3753275 T C . PASS FUNCOTATION=[RERE|hg19|chr1|8425900|8425900|SILENT||SNP|T|T|C|g.chr1:8425900T>C|ENST00000337907.3|-|14|2054|c.1419A>G|c.(1417-1419)acA>acG|p.T473T|0.6234413965087282|GTCTGGAGGGTGTGTTGACGG|RERE_ENST00000400908.2_SILENT_p.T473T/RERE_ENST00000377464.1_SILENT_p.T205T/RERE_ENST00000400907.2_SILENT_p.T473T/RERE_ENST00000476556.1_FIVE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||AL357713|NM_012102.3|NP_036234.3|HGNC:9965|arginine-glutamic_%20_acid_%20_dipeptide_%20_repeats|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ATN1L|"arginine-glutamic_%20_acid_%20_dipeptide_%20_(RE)_%20_repeats"|KIAA0458_%2C__%20_ARP_%2C__%20_ARG_%2C__%20_DNB1||1p36.23|2016-04-05||2016-04-05|AF016005||473|ENSG00000142599|10814707_%2C__%20_10729226||82_%7C_532|GATA_%20_zinc_%20_finger_%20_domain_%20_containing_%7C_Myb/SANT_%20_domain_%20_containing|CCDS95_%2C__%20_CCDS41243|OTTHUMG00000001765|473|605226|NM_001042681|Q9P2R6|ENSG00000142599|uc001ape.4|RERE_HUMAN||O43393_%7C_O75046_%7C_O75359_%7C_Q5VXL9_%7C_Q6P6B9_%7C_Q9Y2W4|Q9P2R6|chromatin_%20_remodeling_%20_(GO:0006338)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_NLS-bearing_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006607)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|histone_%20_deacetylase_%20_complex_%20_(GO:0000118)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_poly-glutamine_%20_tract_%20_binding_%20_(GO:0008267)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8555123 exm2233884 T G . PASS FUNCOTATION=[RERE|hg19|chr1|8555123|8555123|SPLICE_SITE|SILENT|SNP|T|T|G|g.chr1:8555123T>G|ENST00000337907.3|-|11|1739|c.1104A>C|c.(1102-1104)acA>acC|p.T368T|0.4912718204488778|AAAGACTTACTGTGTTCAGTG|RERE_ENST00000400908.2_SPLICE_SITE_p.T368T/RERE_ENST00000377464.1_SPLICE_SITE_p.T100T/RERE_ENST00000400907.2_SPLICE_SITE_p.T368T|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||AL357713|NM_012102.3|NP_036234.3|HGNC:9965|arginine-glutamic_%20_acid_%20_dipeptide_%20_repeats|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ATN1L|"arginine-glutamic_%20_acid_%20_dipeptide_%20_(RE)_%20_repeats"|KIAA0458_%2C__%20_ARP_%2C__%20_ARG_%2C__%20_DNB1||1p36.23|2016-04-05||2016-04-05|AF016005||473|ENSG00000142599|10814707_%2C__%20_10729226||82_%7C_532|GATA_%20_zinc_%20_finger_%20_domain_%20_containing_%7C_Myb/SANT_%20_domain_%20_containing|CCDS95_%2C__%20_CCDS41243|OTTHUMG00000001765|473|605226|NM_001042681|Q9P2R6|ENSG00000142599|uc001ape.4|RERE_HUMAN||O43393_%7C_O75046_%7C_O75359_%7C_Q5VXL9_%7C_Q6P6B9_%7C_Q9Y2W4|Q9P2R6|chromatin_%20_remodeling_%20_(GO:0006338)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_NLS-bearing_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006607)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|histone_%20_deacetylase_%20_complex_%20_(GO:0000118)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_poly-glutamine_%20_tract_%20_binding_%20_(GO:0008267)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8555123 exm2233884 T G . PASS FUNCOTATION=[RERE|hg19|chr1|8555123|8555123|SPLICE_SITE|SILENT|SNP|T|T|G|g.chr1:8555123T>G|ENST00000337907.3|-|11|1739|c.1104A>C|c.(1102-1104)acA>acC|p.T368T|0.4912718204488778|AAAGACTTACTGTGTTCAGTG|RERE_ENST00000400908.2_SPLICE_SITE_p.T368T/RERE_ENST00000377464.1_SPLICE_SITE_p.T100T/RERE_ENST00000400907.2_SPLICE_SITE_p.T368T|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||AL357713|NM_012102.3|NP_036234.3|HGNC:9965|arginine-glutamic_%20_acid_%20_dipeptide_%20_repeats|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ATN1L|"arginine-glutamic_%20_acid_%20_dipeptide_%20_(RE)_%20_repeats"|KIAA0458_%2C__%20_ARP_%2C__%20_ARG_%2C__%20_DNB1||1p36.23|2016-04-05||2016-04-05|AF016005||473|ENSG00000142599|10814707_%2C__%20_10729226||82_%7C_532|GATA_%20_zinc_%20_finger_%20_domain_%20_containing_%7C_Myb/SANT_%20_domain_%20_containing|CCDS95_%2C__%20_CCDS41243|OTTHUMG00000001765|473|605226|NM_001042681|Q9P2R6|ENSG00000142599|uc001ape.4|RERE_HUMAN||O43393_%7C_O75046_%7C_O75359_%7C_Q5VXL9_%7C_Q6P6B9_%7C_Q9Y2W4|Q9P2R6|chromatin_%20_remodeling_%20_(GO:0006338)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_NLS-bearing_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006607)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|histone_%20_deacetylase_%20_complex_%20_(GO:0000118)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_poly-glutamine_%20_tract_%20_binding_%20_(GO:0008267)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8922983 variant.631 G A . PASS FUNCOTATION=[ENO1|hg19|chr1|8922983|8922983|NONSENSE||SNP|G|G|A|g.chr1:8922983G>A|ENST00000234590.4|-|11|1318|c.1198C>T|c.(1198-1200)Cga>Tga|p.R400*|0.5685785536159601|CGCTCAGATCGGCAAGGGGCA||Esophageal_%20_Squamous(21_%3B_302_%20_608_%20_19946_%20_22210_%20_33560)||||||||||||||||||||||||285|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_thymus(14)|||||||X84907|NM_001428.3|NP_001419.1|HGNC:3350|enolase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ENO1L1_%2C__%20_MPB1|"enolase_%20_1_%2C__%20_(alpha)"|PPH_%2C__%20_MBP-1|"alpha-enolase"|1p36.23|2016-10-05||2016-04-05|BC022545|4.2.1.11|2023|ENSG00000074800|9653645_%2C__%20_9691177|NM_001428|||CCDS97|OTTHUMG00000001773|2023|172430|NM_001201483|P06733|ENSG00000074800|uc001apj.3|ENOA_HUMAN||B2RD59_%7C_P22712_%7C_Q16704_%7C_Q4TUS4_%7C_Q53FT9_%7C_Q53HR3_%7C_Q658M5_%7C_Q6GMP2_%7C_Q71V37_%7C_Q7Z3V6_%7C_Q8WU71_%7C_Q96GV1_%7C_Q9BT62_%7C_Q9UCH6_%7C_Q9UM55|P06733|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_gluconeogenesis_%20_(GO:0006094)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_glycolytic_%20_process_%20_(GO:0006096)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_response_%20_to_%20_virus_%20_(GO:0009615)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)_%7C_phosphopyruvate_%20_hydratase_%20_complex_%20_(GO:0000015)_%7C_plasma_%20_membrane_%20_(GO:0005886)|DNA_%20_binding_%20_(GO:0003677)_%7C_magnesium_%20_ion_%20_binding_%20_(GO:0000287)_%7C_phosphopyruvate_%20_hydratase_%20_activity_%20_(GO:0004634)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 8924042 exm2253582 T G . PASS FUNCOTATION=[ENO1|hg19|chr1|8924042|8924042|SILENT||SNP|T|T|G|g.chr1:8924042T>G|ENST00000234590.4|-|9|1095|c.975A>C|c.(973-975)ccA>ccC|p.P325P|0.5511221945137157|CGATCCTCTTTGGGTTGGTCA||Esophageal_%20_Squamous(21_%3B_302_%20_608_%20_19946_%20_22210_%20_33560)||||||||||||||||||||||||285|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_thymus(14)|||||||X84907|NM_001428.3|NP_001419.1|HGNC:3350|enolase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ENO1L1_%2C__%20_MPB1|"enolase_%20_1_%2C__%20_(alpha)"|PPH_%2C__%20_MBP-1|"alpha-enolase"|1p36.23|2016-10-05||2016-04-05|BC022545|4.2.1.11|2023|ENSG00000074800|9653645_%2C__%20_9691177|NM_001428|||CCDS97|OTTHUMG00000001773|2023|172430|NM_001201483|P06733|ENSG00000074800|uc001apj.3|ENOA_HUMAN||B2RD59_%7C_P22712_%7C_Q16704_%7C_Q4TUS4_%7C_Q53FT9_%7C_Q53HR3_%7C_Q658M5_%7C_Q6GMP2_%7C_Q71V37_%7C_Q7Z3V6_%7C_Q8WU71_%7C_Q96GV1_%7C_Q9BT62_%7C_Q9UCH6_%7C_Q9UM55|P06733|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_gluconeogenesis_%20_(GO:0006094)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_glycolytic_%20_process_%20_(GO:0006096)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_response_%20_to_%20_virus_%20_(GO:0009615)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)_%7C_phosphopyruvate_%20_hydratase_%20_complex_%20_(GO:0000015)_%7C_plasma_%20_membrane_%20_(GO:0005886)|DNA_%20_binding_%20_(GO:0003677)_%7C_magnesium_%20_ion_%20_binding_%20_(GO:0000287)_%7C_phosphopyruvate_%20_hydratase_%20_activity_%20_(GO:0004634)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9030964 exm11606 C T . PASS FUNCOTATION=[CA6|hg19|chr1|9030964|9030964|SILENT||SNP|C|C|T|g.chr1:9030964C>T|ENST00000377436.3|+|7|768|c.768C>T|c.(766-768)aaC>aaT|p.N256N|0.5261845386533666|ATCACCGCAACAAGACCATCC|CA6_ENST00000377443.2_SILENT_p.N256N/CA6_ENST00000377442.2_SILENT_p.N196N/CA6_ENST00000476083.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M57892|NM_001270500.1|NP_001257429.1|HGNC:1380|carbonic_%20_anhydrase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"carbonic_%20_anhydrase_%20_VI"|||1p36.23|2016-10-05||2016-03-18|M57892|4.2.1.1|765|ENSG00000131686|9691177||460|Carbonic_%20_anhydrases|CCDS30578_%2C__%20_CCDS57970_%2C__%20_CCDS57971|OTTHUMG00000001763|765|114780|NM_001215|P23280|ENSG00000131686|uc001apm.5|CAH6_HUMAN|Mafenide(DB06795)_%7C_Zonisamide(DB00909)|E7EMQ1_%7C_Q5FBW3_%7C_Q5FC00_%7C_Q96QX8_%7C_Q9UF03|P23280|bicarbonate_%20_transport_%20_(GO:0015701)_%7C_detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_bitter_%20_taste_%20_(GO:0001580)_%7C_one-carbon_%20_metabolic_%20_process_%20_(GO:0006730)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|carbonate_%20_dehydratase_%20_activity_%20_(GO:0004089)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9030964 exm2253595 C T . PASS FUNCOTATION=[CA6|hg19|chr1|9030964|9030964|SILENT||SNP|C|C|T|g.chr1:9030964C>T|ENST00000377436.3|+|7|768|c.768C>T|c.(766-768)aaC>aaT|p.N256N|0.5261845386533666|ATCACCGCAACAAGACCATCC|CA6_ENST00000377443.2_SILENT_p.N256N/CA6_ENST00000377442.2_SILENT_p.N196N/CA6_ENST00000476083.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M57892|NM_001270500.1|NP_001257429.1|HGNC:1380|carbonic_%20_anhydrase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"carbonic_%20_anhydrase_%20_VI"|||1p36.23|2016-10-05||2016-03-18|M57892|4.2.1.1|765|ENSG00000131686|9691177||460|Carbonic_%20_anhydrases|CCDS30578_%2C__%20_CCDS57970_%2C__%20_CCDS57971|OTTHUMG00000001763|765|114780|NM_001215|P23280|ENSG00000131686|uc001apm.5|CAH6_HUMAN|Mafenide(DB06795)_%7C_Zonisamide(DB00909)|E7EMQ1_%7C_Q5FBW3_%7C_Q5FC00_%7C_Q96QX8_%7C_Q9UF03|P23280|bicarbonate_%20_transport_%20_(GO:0015701)_%7C_detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_bitter_%20_taste_%20_(GO:0001580)_%7C_one-carbon_%20_metabolic_%20_process_%20_(GO:0006730)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|carbonate_%20_dehydratase_%20_activity_%20_(GO:0004089)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9063578 exm11630 C T . PASS FUNCOTATION=[SLC2A7|hg19|chr1|9063578|9063578|SPLICE_SITE|INTRON|SNP|C|C|T|g.chr1:9063578C>T|ENST00000400906.1|-|||c.e12+1G>A|c.e12-1||0.49875311720698257|CGATGGCCTCCTAGACCAGGA||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471130|NM_207420.2|NP_997303.2|HGNC:13445|solute_%20_carrier_%20_family_%20_2_%20_member_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_2_%20_(facilitated_%20_glucose_%20_transporter)_%2C__%20_member_%20_7"|GLUT7|"intestinal_%20_facilitative_%20_glucose_%20_transporter_%20_7"|1p36.23|2016-10-05||2016-02-17|AL356306||155184|ENSG00000197241|11780753|NM_207420|752|Solute_%20_carriers|CCDS98|OTTHUMG00000057499|155184|610371|NM_207420|Q6PXP3|ENSG00000197241|uc009vmo.1|GTR7_HUMAN||A2A333|Q6PXP3|carbohydrate_%20_transport_%20_(GO:0008643)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|substrate-specific_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0022891)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9079267 chr1_9079267 C T . PASS FUNCOTATION=[SLC2A7|hg19|chr1|9079267|9079267|SPLICE_SITE|INTRON|SNP|C|C|T|g.chr1:9079267C>T|ENST00000400906.1|-|||c.e4-1G>A|c.e4+1||0.543640897755611|GCCCCAGGTACCTGCACAGAC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471130|NM_207420.2|NP_997303.2|HGNC:13445|solute_%20_carrier_%20_family_%20_2_%20_member_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_2_%20_(facilitated_%20_glucose_%20_transporter)_%2C__%20_member_%20_7"|GLUT7|"intestinal_%20_facilitative_%20_glucose_%20_transporter_%20_7"|1p36.23|2016-10-05||2016-02-17|AL356306||155184|ENSG00000197241|11780753|NM_207420|752|Solute_%20_carriers|CCDS98|OTTHUMG00000057499|155184|610371|NM_207420|Q6PXP3|ENSG00000197241|uc009vmo.1|GTR7_HUMAN||A2A333|Q6PXP3|carbohydrate_%20_transport_%20_(GO:0008643)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|substrate-specific_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0022891)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9079319 exm1918946 T A . PASS FUNCOTATION=[SLC2A7|hg19|chr1|9079319|9079319|NONSENSE||SNP|T|T|A|g.chr1:9079319T>A|ENST00000400906.1|-|4|385|c.385A>T|c.(385-387)Aag>Tag|p.K129*|0.5985037406483791|TCAAAAGCCTTGGCCACTTTG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471130|NM_207420.2|NP_997303.2|HGNC:13445|solute_%20_carrier_%20_family_%20_2_%20_member_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_2_%20_(facilitated_%20_glucose_%20_transporter)_%2C__%20_member_%20_7"|GLUT7|"intestinal_%20_facilitative_%20_glucose_%20_transporter_%20_7"|1p36.23|2016-10-05||2016-02-17|AL356306||155184|ENSG00000197241|11780753|NM_207420|752|Solute_%20_carriers|CCDS98|OTTHUMG00000057499|155184|610371|NM_207420|Q6PXP3|ENSG00000197241|uc009vmo.1|GTR7_HUMAN||A2A333|Q6PXP3|carbohydrate_%20_transport_%20_(GO:0008643)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|substrate-specific_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0022891)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9083101 newrs148511942 G A . PASS FUNCOTATION=[SLC2A7|hg19|chr1|9083101|9083101|NONSENSE||SNP|G|G|A|g.chr1:9083101G>A|ENST00000400906.1|-|3|187|c.187C>T|c.(187-189)Cga>Tga|p.R63*|0.4713216957605985|GTTGCGTGTCGCTCAAAGTAG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471130|NM_207420.2|NP_997303.2|HGNC:13445|solute_%20_carrier_%20_family_%20_2_%20_member_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_2_%20_(facilitated_%20_glucose_%20_transporter)_%2C__%20_member_%20_7"|GLUT7|"intestinal_%20_facilitative_%20_glucose_%20_transporter_%20_7"|1p36.23|2016-10-05||2016-02-17|AL356306||155184|ENSG00000197241|11780753|NM_207420|752|Solute_%20_carriers|CCDS98|OTTHUMG00000057499|155184|610371|NM_207420|Q6PXP3|ENSG00000197241|uc009vmo.1|GTR7_HUMAN||A2A333|Q6PXP3|carbohydrate_%20_transport_%20_(GO:0008643)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|substrate-specific_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0022891)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9095610 exm2268650 T C . PASS FUNCOTATION=[SLC2A5|hg19|chr1|9095610|9095610|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:9095610T>C|ENST00000377424.4|-|12|||||0.46633416458852867|GCCACCAGCCTCTGCCACCCA||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U11843|NM_003039.2|NP_003030.1|HGNC:11010|solute_%20_carrier_%20_family_%20_2_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GLUT5|"solute_%20_carrier_%20_family_%20_2_%20_(facilitated_%20_glucose/fructose_%20_transporter)_%2C__%20_member_%20_5"|||1p36.23|2016-10-05||2016-02-17|BC001820||6518|ENSG00000142583|9691177|NM_003039|752|Solute_%20_carriers|CCDS99_%2C__%20_CCDS44054|OTTHUMG00000001771|6518|138230|NM_001135585|P22732|ENSG00000142583|uc001apo.4|GTR5_HUMAN||Q14770_%7C_Q5T977_%7C_Q8IVB3|P22732|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cellular_%20_response_%20_to_%20_fructose_%20_stimulus_%20_(GO:0071332)_%7C_fructose_%20_transport_%20_(GO:0015755)_%7C_glucose_%20_transport_%20_(GO:0015758)_%7C_hexose_%20_transport_%20_(GO:0008645)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|fructose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005353)_%7C_glucose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005355)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9097241 rs5840 C T . PASS FUNCOTATION=[SLC2A5|hg19|chr1|9097241|9097241|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:9097241C>T|ENST00000377424.4|-|12|||||0.4613466334164589|GAAGACCTGTCGGGGCCACCA|SLC2A5_ENST00000536305.1_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U11843|NM_003039.2|NP_003030.1|HGNC:11010|solute_%20_carrier_%20_family_%20_2_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GLUT5|"solute_%20_carrier_%20_family_%20_2_%20_(facilitated_%20_glucose/fructose_%20_transporter)_%2C__%20_member_%20_5"|||1p36.23|2016-10-05||2016-02-17|BC001820||6518|ENSG00000142583|9691177|NM_003039|752|Solute_%20_carriers|CCDS99_%2C__%20_CCDS44054|OTTHUMG00000001771|6518|138230|NM_001135585|P22732|ENSG00000142583|uc001apo.4|GTR5_HUMAN||Q14770_%7C_Q5T977_%7C_Q8IVB3|P22732|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cellular_%20_response_%20_to_%20_fructose_%20_stimulus_%20_(GO:0071332)_%7C_fructose_%20_transport_%20_(GO:0015755)_%7C_glucose_%20_transport_%20_(GO:0015758)_%7C_hexose_%20_transport_%20_(GO:0008645)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|fructose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005353)_%7C_glucose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005355)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9097251 kgp9153910 A G . PASS FUNCOTATION=[SLC2A5|hg19|chr1|9097251|9097251|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:9097251A>G|ENST00000377424.4|-|12|||||0.46384039900249374|CGGGGCCACCAAGTTAGTTTC|SLC2A5_ENST00000536305.1_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U11843|NM_003039.2|NP_003030.1|HGNC:11010|solute_%20_carrier_%20_family_%20_2_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GLUT5|"solute_%20_carrier_%20_family_%20_2_%20_(facilitated_%20_glucose/fructose_%20_transporter)_%2C__%20_member_%20_5"|||1p36.23|2016-10-05||2016-02-17|BC001820||6518|ENSG00000142583|9691177|NM_003039|752|Solute_%20_carriers|CCDS99_%2C__%20_CCDS44054|OTTHUMG00000001771|6518|138230|NM_001135585|P22732|ENSG00000142583|uc001apo.4|GTR5_HUMAN||Q14770_%7C_Q5T977_%7C_Q8IVB3|P22732|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cellular_%20_response_%20_to_%20_fructose_%20_stimulus_%20_(GO:0071332)_%7C_fructose_%20_transport_%20_(GO:0015755)_%7C_glucose_%20_transport_%20_(GO:0015758)_%7C_hexose_%20_transport_%20_(GO:0008645)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|fructose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005353)_%7C_glucose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005355)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9097696 exm11736 G C . PASS FUNCOTATION=[SLC2A5|hg19|chr1|9097696|9097696|NONSENSE||SNP|G|G|C|g.chr1:9097696G>C|ENST00000377424.4|-|12|1635|c.1455C>G|c.(1453-1455)taC>taG|p.Y485*|0.5286783042394015|CCTTTTCCGGGTACACTTCAG|SLC2A5_ENST00000536305.1_NONSENSE_p.Y426*/SLC2A5_ENST00000535586.1_NONSENSE_p.Y370*|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U11843|NM_003039.2|NP_003030.1|HGNC:11010|solute_%20_carrier_%20_family_%20_2_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GLUT5|"solute_%20_carrier_%20_family_%20_2_%20_(facilitated_%20_glucose/fructose_%20_transporter)_%2C__%20_member_%20_5"|||1p36.23|2016-10-05||2016-02-17|BC001820||6518|ENSG00000142583|9691177|NM_003039|752|Solute_%20_carriers|CCDS99_%2C__%20_CCDS44054|OTTHUMG00000001771|6518|138230|NM_001135585|P22732|ENSG00000142583|uc001apo.4|GTR5_HUMAN||Q14770_%7C_Q5T977_%7C_Q8IVB3|P22732|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cellular_%20_response_%20_to_%20_fructose_%20_stimulus_%20_(GO:0071332)_%7C_fructose_%20_transport_%20_(GO:0015755)_%7C_glucose_%20_transport_%20_(GO:0015758)_%7C_hexose_%20_transport_%20_(GO:0008645)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|fructose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005353)_%7C_glucose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005355)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9117596 kgp15820906 C T . PASS FUNCOTATION=[SLC2A5|hg19|chr1|9117596|9117596|SILENT||SNP|C|C|T|g.chr1:9117596C>T|ENST00000377424.4|-|3|384|c.204G>A|c.(202-204)acG>acA|p.T68T|0.43640897755610975|ACCACAGCAACGTCAAGGGGA|SLC2A5_ENST00000377414.3_SILENT_p.T68T/SLC2A5_ENST00000535586.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U11843|NM_003039.2|NP_003030.1|HGNC:11010|solute_%20_carrier_%20_family_%20_2_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GLUT5|"solute_%20_carrier_%20_family_%20_2_%20_(facilitated_%20_glucose/fructose_%20_transporter)_%2C__%20_member_%20_5"|||1p36.23|2016-10-05||2016-02-17|BC001820||6518|ENSG00000142583|9691177|NM_003039|752|Solute_%20_carriers|CCDS99_%2C__%20_CCDS44054|OTTHUMG00000001771|6518|138230|NM_001135585|P22732|ENSG00000142583|uc001apo.4|GTR5_HUMAN||Q14770_%7C_Q5T977_%7C_Q8IVB3|P22732|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cellular_%20_response_%20_to_%20_fructose_%20_stimulus_%20_(GO:0071332)_%7C_fructose_%20_transport_%20_(GO:0015755)_%7C_glucose_%20_transport_%20_(GO:0015758)_%7C_hexose_%20_transport_%20_(GO:0008645)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|fructose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005353)_%7C_glucose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005355)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9118247 exm1921670 A C . PASS FUNCOTATION=[SLC2A5|hg19|chr1|9118247|9118247|NONSENSE||SNP|A|A|C|g.chr1:9118247A>C|ENST00000377424.4|-|2|276|c.96T>G|c.(94-96)taT>taG|p.Y32*|0.5660847880299252|CGTTGTACCCATACTGGAAGG|SLC2A5_ENST00000377414.3_NONSENSE_p.Y32*/SLC2A5_ENST00000535586.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U11843|NM_003039.2|NP_003030.1|HGNC:11010|solute_%20_carrier_%20_family_%20_2_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GLUT5|"solute_%20_carrier_%20_family_%20_2_%20_(facilitated_%20_glucose/fructose_%20_transporter)_%2C__%20_member_%20_5"|||1p36.23|2016-10-05||2016-02-17|BC001820||6518|ENSG00000142583|9691177|NM_003039|752|Solute_%20_carriers|CCDS99_%2C__%20_CCDS44054|OTTHUMG00000001771|6518|138230|NM_001135585|P22732|ENSG00000142583|uc001apo.4|GTR5_HUMAN||Q14770_%7C_Q5T977_%7C_Q8IVB3|P22732|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cellular_%20_response_%20_to_%20_fructose_%20_stimulus_%20_(GO:0071332)_%7C_fructose_%20_transport_%20_(GO:0015755)_%7C_glucose_%20_transport_%20_(GO:0015758)_%7C_hexose_%20_transport_%20_(GO:0008645)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|fructose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005353)_%7C_glucose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005355)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9129620 kgp4856177 C T . PASS FUNCOTATION=[SLC2A5|hg19|chr1|9129620|9129620|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:9129620C>T|ENST00000377424.4|-|1|||||0.5261845386533666|GGCAGAGTGCCGCTCACCTCC|SLC2A5_ENST00000377414.3_FIVE_PRIME_UTR/SLC2A5_ENST00000535586.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U11843|NM_003039.2|NP_003030.1|HGNC:11010|solute_%20_carrier_%20_family_%20_2_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GLUT5|"solute_%20_carrier_%20_family_%20_2_%20_(facilitated_%20_glucose/fructose_%20_transporter)_%2C__%20_member_%20_5"|||1p36.23|2016-10-05||2016-02-17|BC001820||6518|ENSG00000142583|9691177|NM_003039|752|Solute_%20_carriers|CCDS99_%2C__%20_CCDS44054|OTTHUMG00000001771|6518|138230|NM_001135585|P22732|ENSG00000142583|uc001apo.4|GTR5_HUMAN||Q14770_%7C_Q5T977_%7C_Q8IVB3|P22732|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cellular_%20_response_%20_to_%20_fructose_%20_stimulus_%20_(GO:0071332)_%7C_fructose_%20_transport_%20_(GO:0015755)_%7C_glucose_%20_transport_%20_(GO:0015758)_%7C_hexose_%20_transport_%20_(GO:0008645)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|fructose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005353)_%7C_glucose_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005355)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9164133 rs3737669 G A . PASS FUNCOTATION=[GPR157|hg19|chr1|9164133|9164133|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:9164133G>A|ENST00000377411.4|-|4|||||0.5586034912718204|GGGTCCCTCAGATTGTAAACA||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||AY768808|NM_024980.4|NP_079256.4|HGNC:23687|G_%20_protein-coupled_%20_receptor_%20_157|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ12132||1p36.22|2015-08-25|||AK022194||80045|ENSG00000180758|10574461|NM_024980|310|7TM_%20_orphan_%20_receptors|CCDS100|OTTHUMG00000001758|80045||NM_024980|Q5UAW9|ENSG00000180758|uc001apq.2|GP157_HUMAN||A2A334_%7C_Q8WWB8_%7C_Q9HA73|Q5UAW9||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9171336 exm11874 G A . PASS FUNCOTATION=[GPR157|hg19|chr1|9171336|9171336|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:9171336G>A|ENST00000377411.4|-|2|739|c.596C>T|c.(595-597)gCg>gTg|p.A199V|0.6084788029925187|AGCGCCTACCGCTCTGTTGAT|GPR157_ENST00000414642.2_SPLICE_SITE_p.A199V|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||AY768808|NM_024980.4|NP_079256.4|HGNC:23687|G_%20_protein-coupled_%20_receptor_%20_157|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ12132||1p36.22|2015-08-25|||AK022194||80045|ENSG00000180758|10574461|NM_024980|310|7TM_%20_orphan_%20_receptors|CCDS100|OTTHUMG00000001758|80045||NM_024980|Q5UAW9|ENSG00000180758|uc001apq.2|GP157_HUMAN||A2A334_%7C_Q8WWB8_%7C_Q9HA73|Q5UAW9||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9250991 rs10864392 C T . PASS FUNCOTATION=[RP3-510D11.2|hg19|chr1|9250991|9250991|LINCRNA||SNP|C|C|T|g.chr1:9250991C>T|ENST00000412639.2|+|||c.e3-461C>T|||0.5236907730673317|TGCCGATTGACAAGGCCTTTT|RP3-510D11.1_ENST00000437157.2_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9256200 rs4908823 G A . PASS FUNCOTATION=[RP3-510D11.1|hg19|chr1|9256200|9256200|LINCRNA||SNP|G|G|A|g.chr1:9256200G>A|ENST00000437157.2|-|||c.e1-6438C>T|||0.5361596009975063|ATCCATGAGGGCTCCTGTCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9307033 rs7524046 G A . PASS FUNCOTATION=[H6PD|hg19|chr1|9307033|9307033|SILENT||SNP|G|G|A|g.chr1:9307033G>A|ENST00000377403.2|+|3|938|c.636G>A|c.(634-636)gcG>gcA|p.A212A|0.5910224438902744|AGGCTGTGGCGCAGATCCTGC|H6PD_ENST00000602477.1_SILENT_p.A223A|||||||||||||||||||||||||93|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(2)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||Z98044|NM_004285.3|NP_004276.2|HGNC:4795|hexose-6-phosphate_%20_dehydrogenase/glucose_%20_1-dehydrogenase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GDH|"glucose_%20_dehyrogenase"_%2C__%20_"hexose-6-phosphate_%20_dehydrogenase_%20_(glucose_%20_1-dehydrogenase)"||"GDH/6PGL_%20_endoplasmic_%20_bifunctional_%20_protein"|1p36.22|2016-10-05||2016-04-05|AJ012590|1.1.1.47|9563|ENSG00000049239|10349511|NM_004285|||CCDS101_%2C__%20_CCDS72697|OTTHUMG00000001768|9563|138090|NM_001282587|O95479|ENSG00000049239|uc001apt.4|G6PE_HUMAN||Q4TT33_%7C_Q66I35_%7C_Q68DT3|O95479|pentose-phosphate_%20_shunt_%20_(GO:0006098)_%7C_response_%20_to_%20_alcohol_%20_(GO:0097305)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_mitochondrion_%20_(GO:0005739)|6-phosphogluconolactonase_%20_activity_%20_(GO:0017057)_%7C_carbohydrate_%20_binding_%20_(GO:0030246)_%7C_glucose_%20_1-dehydrogenase_%20_[NAD(P)]_%20_activity_%20_(GO:0047936)_%7C_glucose-6-phosphate_%20_dehydrogenase_%20_activity_%20_(GO:0004345)_%7C_NADP_%20_binding_%20_(GO:0050661)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9324385 exm12065 G A . PASS FUNCOTATION=[H6PD|hg19|chr1|9324385|9324385|NONSENSE||SNP|G|G|A|g.chr1:9324385G>A|ENST00000377403.2|+|5|2135|c.1833G>A|c.(1831-1833)tgG>tgA|p.W611*|0.6658354114713217|GCTTCCCCTGGGCCCACACGC|H6PD_ENST00000602477.1_NONSENSE_p.W622*/H6PD_ENST00000495451.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||93|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(2)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||Z98044|NM_004285.3|NP_004276.2|HGNC:4795|hexose-6-phosphate_%20_dehydrogenase/glucose_%20_1-dehydrogenase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GDH|"glucose_%20_dehyrogenase"_%2C__%20_"hexose-6-phosphate_%20_dehydrogenase_%20_(glucose_%20_1-dehydrogenase)"||"GDH/6PGL_%20_endoplasmic_%20_bifunctional_%20_protein"|1p36.22|2016-10-05||2016-04-05|AJ012590|1.1.1.47|9563|ENSG00000049239|10349511|NM_004285|||CCDS101_%2C__%20_CCDS72697|OTTHUMG00000001768|9563|138090|NM_001282587|O95479|ENSG00000049239|uc001apt.4|G6PE_HUMAN||Q4TT33_%7C_Q66I35_%7C_Q68DT3|O95479|pentose-phosphate_%20_shunt_%20_(GO:0006098)_%7C_response_%20_to_%20_alcohol_%20_(GO:0097305)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_mitochondrion_%20_(GO:0005739)|6-phosphogluconolactonase_%20_activity_%20_(GO:0017057)_%7C_carbohydrate_%20_binding_%20_(GO:0030246)_%7C_glucose_%20_1-dehydrogenase_%20_[NAD(P)]_%20_activity_%20_(GO:0047936)_%7C_glucose-6-phosphate_%20_dehydrogenase_%20_activity_%20_(GO:0004345)_%7C_NADP_%20_binding_%20_(GO:0050661)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9326132 rs17033642 A C . PASS FUNCOTATION=[H6PD|hg19|chr1|9326132|9326132|THREE_PRIME_UTR||SNP|A|A|C|g.chr1:9326132A>C|ENST00000377403.2|+|5|||||0.5985037406483791|GATCCAGTTAAATCACCCACT|H6PD_ENST00000602477.1_THREE_PRIME_UTR/H6PD_ENST00000495451.1_INTRON|||||||||||||||||||||||||93|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(2)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||Z98044|NM_004285.3|NP_004276.2|HGNC:4795|hexose-6-phosphate_%20_dehydrogenase/glucose_%20_1-dehydrogenase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GDH|"glucose_%20_dehyrogenase"_%2C__%20_"hexose-6-phosphate_%20_dehydrogenase_%20_(glucose_%20_1-dehydrogenase)"||"GDH/6PGL_%20_endoplasmic_%20_bifunctional_%20_protein"|1p36.22|2016-10-05||2016-04-05|AJ012590|1.1.1.47|9563|ENSG00000049239|10349511|NM_004285|||CCDS101_%2C__%20_CCDS72697|OTTHUMG00000001768|9563|138090|NM_001282587|O95479|ENSG00000049239|uc001apt.4|G6PE_HUMAN||Q4TT33_%7C_Q66I35_%7C_Q68DT3|O95479|pentose-phosphate_%20_shunt_%20_(GO:0006098)_%7C_response_%20_to_%20_alcohol_%20_(GO:0097305)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_mitochondrion_%20_(GO:0005739)|6-phosphogluconolactonase_%20_activity_%20_(GO:0017057)_%7C_carbohydrate_%20_binding_%20_(GO:0030246)_%7C_glucose_%20_1-dehydrogenase_%20_[NAD(P)]_%20_activity_%20_(GO:0047936)_%7C_glucose-6-phosphate_%20_dehydrogenase_%20_activity_%20_(GO:0004345)_%7C_NADP_%20_binding_%20_(GO:0050661)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9327413 rs11121354 T G . PASS FUNCOTATION=[H6PD|hg19|chr1|9327413|9327413|THREE_PRIME_UTR||SNP|T|T|G|g.chr1:9327413T>G|ENST00000377403.2|+|5|||||0.6234413965087282|GTGCCGGATTTCATTTCCCTC|H6PD_ENST00000602477.1_THREE_PRIME_UTR/H6PD_ENST00000495451.1_INTRON|||||||||||||||||||||||||93|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(2)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||Z98044|NM_004285.3|NP_004276.2|HGNC:4795|hexose-6-phosphate_%20_dehydrogenase/glucose_%20_1-dehydrogenase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GDH|"glucose_%20_dehyrogenase"_%2C__%20_"hexose-6-phosphate_%20_dehydrogenase_%20_(glucose_%20_1-dehydrogenase)"||"GDH/6PGL_%20_endoplasmic_%20_bifunctional_%20_protein"|1p36.22|2016-10-05||2016-04-05|AJ012590|1.1.1.47|9563|ENSG00000049239|10349511|NM_004285|||CCDS101_%2C__%20_CCDS72697|OTTHUMG00000001768|9563|138090|NM_001282587|O95479|ENSG00000049239|uc001apt.4|G6PE_HUMAN||Q4TT33_%7C_Q66I35_%7C_Q68DT3|O95479|pentose-phosphate_%20_shunt_%20_(GO:0006098)_%7C_response_%20_to_%20_alcohol_%20_(GO:0097305)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_mitochondrion_%20_(GO:0005739)|6-phosphogluconolactonase_%20_activity_%20_(GO:0017057)_%7C_carbohydrate_%20_binding_%20_(GO:0030246)_%7C_glucose_%20_1-dehydrogenase_%20_[NAD(P)]_%20_activity_%20_(GO:0047936)_%7C_glucose-6-phosphate_%20_dehydrogenase_%20_activity_%20_(GO:0004345)_%7C_NADP_%20_binding_%20_(GO:0050661)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9427508 exm1939653 C T . PASS FUNCOTATION=[SPSB1|hg19|chr1|9427508|9427508|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:9427508C>T|ENST00000328089.6|+|3|1037|c.696C>T|c.(694-696)ccC>ccT|p.P232P|0.5835411471321695|TCTCCCCAGCCGAGCCGCTGC|SPSB1_ENST00000357898.3_SPLICE_SITE_p.P232P/SPSB1_ENST00000377399.2_SPLICE_SITE_p.P232P|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471130|NM_025106.3|NP_079382.2|HGNC:30628|splA/ryanodine_%20_receptor_%20_domain_%20_and_%20_SOCS_%20_box_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SSB-1||1p36.22|2014-11-19|||||80176|ENSG00000171621|15713673_%2C__%20_12076535|NM_025106|||CCDS102|OTTHUMG00000001279|80176|611657|NM_025106|Q96BD6|ENSG00000171621|uc010oae.3|SPSB1_HUMAN||A2A275_%7C_Q59FA1_%7C_Q5TIH9_%7C_Q9BRY9_%7C_Q9H6C5|Q96BD6|intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|cytoplasm_%20_(GO:0005737)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9427508 exm1939653 C T . PASS FUNCOTATION=[SPSB1|hg19|chr1|9427508|9427508|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:9427508C>T|ENST00000328089.6|+|3|1037|c.696C>T|c.(694-696)ccC>ccT|p.P232P|0.5835411471321695|TCTCCCCAGCCGAGCCGCTGC|SPSB1_ENST00000357898.3_SPLICE_SITE_p.P232P/SPSB1_ENST00000377399.2_SPLICE_SITE_p.P232P|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471130|NM_025106.3|NP_079382.2|HGNC:30628|splA/ryanodine_%20_receptor_%20_domain_%20_and_%20_SOCS_%20_box_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SSB-1||1p36.22|2014-11-19|||||80176|ENSG00000171621|15713673_%2C__%20_12076535|NM_025106|||CCDS102|OTTHUMG00000001279|80176|611657|NM_025106|Q96BD6|ENSG00000171621|uc010oae.3|SPSB1_HUMAN||A2A275_%7C_Q59FA1_%7C_Q5TIH9_%7C_Q9BRY9_%7C_Q9H6C5|Q96BD6|intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|cytoplasm_%20_(GO:0005737)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9427869 rs2275457 G A . PASS FUNCOTATION=[SPSB1|hg19|chr1|9427869|9427869|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:9427869G>A|ENST00000328089.6|+|3|||||0.6059850374064838|CATGCCGTCCGTATACAACCC|SPSB1_ENST00000357898.3_THREE_PRIME_UTR|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471130|NM_025106.3|NP_079382.2|HGNC:30628|splA/ryanodine_%20_receptor_%20_domain_%20_and_%20_SOCS_%20_box_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SSB-1||1p36.22|2014-11-19|||||80176|ENSG00000171621|15713673_%2C__%20_12076535|NM_025106|||CCDS102|OTTHUMG00000001279|80176|611657|NM_025106|Q96BD6|ENSG00000171621|uc010oae.3|SPSB1_HUMAN||A2A275_%7C_Q59FA1_%7C_Q5TIH9_%7C_Q9BRY9_%7C_Q9H6C5|Q96BD6|intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|cytoplasm_%20_(GO:0005737)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9428520 psy_rs41301983 G A . PASS FUNCOTATION=[SPSB1|hg19|chr1|9428520|9428520|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:9428520G>A|ENST00000328089.6|+|3|||||0.5610972568578554|GGGTGTCTTCGGGGGCCCGTC||||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471130|NM_025106.3|NP_079382.2|HGNC:30628|splA/ryanodine_%20_receptor_%20_domain_%20_and_%20_SOCS_%20_box_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SSB-1||1p36.22|2014-11-19|||||80176|ENSG00000171621|15713673_%2C__%20_12076535|NM_025106|||CCDS102|OTTHUMG00000001279|80176|611657|NM_025106|Q96BD6|ENSG00000171621|uc010oae.3|SPSB1_HUMAN||A2A275_%7C_Q59FA1_%7C_Q5TIH9_%7C_Q9BRY9_%7C_Q9H6C5|Q96BD6|intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|cytoplasm_%20_(GO:0005737)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9562830 rs7550613 G A . PASS FUNCOTATION=[RP13-392I16.1|hg19|chr1|9562830|9562830|LINCRNA||SNP|G|G|A|g.chr1:9562830G>A|ENST00000441033.1|-|||c.e1-450C>T|||0.4613466334164589|CACCTACTTCGGGGCTGAGGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9640291 exm12193 C T . PASS FUNCOTATION=[SLC25A33|hg19|chr1|9640291|9640291|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:9640291C>T|ENST00000302692.6|+|6|972|c.762C>T|c.(760-762)caC>caT|p.H254H|0.4488778054862843|CTTATCCACACGGTATGTTTT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC073135|NM_032315.2|NP_115691.1|HGNC:29681|solute_%20_carrier_%20_family_%20_25_%20_member_%20_33|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_25_%2C__%20_member_%20_33"_%2C__%20_"solute_%20_carrier_%20_family_%20_25_%20_(pyrimidine_%20_nucleotide_%20_carrier)_%2C__%20_member_%20_33"|MGC4399_%2C__%20_BMSC-MCP_%2C__%20_PNC1||1p36.22|2016-02-18||2016-02-18|AF495714||84275|ENSG00000171612|14715278_%2C__%20_16949250|NM_032315|752|Solute_%20_carriers|CCDS103|OTTHUMG00000001322|84275|610816|NM_032315|Q9BSK2|ENSG00000171612|uc001apw.4|S2533_HUMAN|||Q9BSK2|transport_%20_(GO:0006810)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9640291 exm12193 C T . PASS FUNCOTATION=[SLC25A33|hg19|chr1|9640291|9640291|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:9640291C>T|ENST00000302692.6|+|6|972|c.762C>T|c.(760-762)caC>caT|p.H254H|0.4488778054862843|CTTATCCACACGGTATGTTTT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC073135|NM_032315.2|NP_115691.1|HGNC:29681|solute_%20_carrier_%20_family_%20_25_%20_member_%20_33|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_25_%2C__%20_member_%20_33"_%2C__%20_"solute_%20_carrier_%20_family_%20_25_%20_(pyrimidine_%20_nucleotide_%20_carrier)_%2C__%20_member_%20_33"|MGC4399_%2C__%20_BMSC-MCP_%2C__%20_PNC1||1p36.22|2016-02-18||2016-02-18|AF495714||84275|ENSG00000171612|14715278_%2C__%20_16949250|NM_032315|752|Solute_%20_carriers|CCDS103|OTTHUMG00000001322|84275|610816|NM_032315|Q9BSK2|ENSG00000171612|uc001apw.4|S2533_HUMAN|||Q9BSK2|transport_%20_(GO:0006810)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9713386 rs4240895 C T . PASS FUNCOTATION=[C1orf200|hg19|chr1|9713386|9713386|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:9713386C>T|ENST00000377320.3|-|2|||||0.5062344139650873|GTGATTTCAGCTGGACAACTG|PIK3CD_ENST00000377346.4_INTRON/PIK3CD_ENST00000536656.1_INTRON|||||||||||||||||||||||||||||||||CH471130||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9713899 variant.673 G A . PASS FUNCOTATION=[C1orf200|hg19|chr1|9713899|9713899|NONSENSE||SNP|G|G|A|g.chr1:9713899G>A|ENST00000377320.3|-|2|592|c.442C>T|c.(442-444)Cag>Tag|p.Q148*|0.516209476309227|GCGGCTTCCTGGGCTTGGTCC|PIK3CD_ENST00000377346.4_INTRON/PIK3CD_ENST00000536656.1_INTRON|||||||||||||||||||||||||||||||||CH471130||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9784435 exm2254097 T C . PASS FUNCOTATION=[PIK3CD|hg19|chr1|9784435|9784435|SILENT||SNP|T|T|C|g.chr1:9784435T>C|ENST00000377346.4|+|22|3015|c.2820T>C|c.(2818-2820)caT>caC|p.H940H|0.5760598503740648|ACTTTGTCCATGTGATTCAGC|PIK3CD_ENST00000361110.2_SILENT_p.H964H/PIK3CD_ENST00000536656.1_SILENT_p.H964H|||||||||||||||||||||||||1402|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(299)_%7C_kidney(112)_%7C_large_intestine(11)_%7C_lung(323)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_stomach(135)_%7C_upper_aerodigestive_tract(121)|||||||Y10055|NM_005026.3|NP_005017.3|HGNC:8977|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_delta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_delta_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_delta"|p110D|"phosphatidylinositol_%20_3-kinase_%2C__%20_catalytic_%2C__%20_delta_%20_polypeptide"_%2C__%20_"phosphoinositide-3-kinase_%20_C"|1p36.22|2017-03-24||2015-11-17||2.7.1.153|5293|ENSG00000171608|9113989_%2C__%20_9455486|NM_005026|831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS104|OTTHUMG00000001450|5293|602839|NM_005026|O00329|ENSG00000171608|uc001aqb.5|PK3CD_HUMAN|Caffeine(DB00201)|A6NCG0_%7C_G1FFP1_%7C_O15445_%7C_Q5SR49|O00329|adaptive_%20_immune_%20_response_%20_(GO:0002250)_%7C_B_%20_cell_%20_activation_%20_(GO:0042113)_%7C_B_%20_cell_%20_chemotaxis_%20_(GO:0035754)_%7C_B_%20_cell_%20_homeostasis_%20_(GO:0001782)_%7C_B_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050853)_%7C_cytokine_%20_production_%20_(GO:0001816)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_mast_%20_cell_%20_chemotaxis_%20_(GO:0002551)_%7C_mast_%20_cell_%20_degranulation_%20_(GO:0043303)_%7C_mast_%20_cell_%20_differentiation_%20_(GO:0060374)_%7C_natural_%20_killer_%20_cell_%20_activation_%20_(GO:0030101)_%7C_natural_%20_killer_%20_cell_%20_chemotaxis_%20_(GO:0035747)_%7C_natural_%20_killer_%20_cell_%20_differentiation_%20_(GO:0001779)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_neutrophil_%20_chemotaxis_%20_(GO:0030593)_%7C_neutrophil_%20_extravasation_%20_(GO:0072672)_%7C_phosphatidylinositol_%20_3-kinase_%20_signaling_%20_(GO:0014065)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol-3-phosphate_%20_biosynthetic_%20_process_%20_(GO:0036092)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_respiratory_%20_burst_%20_involved_%20_in_%20_defense_%20_response_%20_(GO:0002679)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_activation_%20_(GO:0042110)_%7C_T_%20_cell_%20_chemotaxis_%20_(GO:0010818)_%7C_T_%20_cell_%20_differentiation_%20_(GO:0030217)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)|cytosol_%20_(GO:0005829)_%7C_mast_%20_cell_%20_granule_%20_(GO:0042629)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9811597 var_1_9811597 G A . PASS FUNCOTATION=[CLSTN1|hg19|chr1|9811597|9811597|NONSENSE||SNP|G|G|A|g.chr1:9811597G>A|ENST00000377298.4|-|5|1376|c.583C>T|c.(583-585)Cag>Tag|p.Q195*|0.49875311720698257|TGGCTGAACTGAGGGGAGCAG|CLSTN1_ENST00000361311.4_NONSENSE_p.Q185*/CLSTN1_ENST00000377288.3_NONSENSE_p.Q195*|||||||||||||||||||||||||620|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(232)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||BC033902|NM_001009566.1|NP_001009566.1|HGNC:17447|calsyntenin_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CSTN1_%2C__%20_KIAA0911_%2C__%20_CDHR12|"cadherin-related_%20_family_%20_member_%20_12"|1p36.22|2015-09-11|||AB020718||22883|ENSG00000171603|10048485||24|Cadherin_%20_related|CCDS105_%2C__%20_CCDS30580|OTTHUMG00000001451|22883|611321|NM_001009566|O94985|ENSG00000171603|uc001aqi.4|CSTN1_HUMAN||A8K183_%7C_Q5SR52_%7C_Q5UE58_%7C_Q71MN0_%7C_Q8N4K9|O94985|cell_%20_adhesion_%20_(GO:0007155)_%7C_homophilic_%20_cell_%20_adhesion_%20_(GO:0007156)|cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_projection_%20_(GO:0042995)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|beta-amyloid_%20_binding_%20_(GO:0001540)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_kinesin_%20_binding_%20_(GO:0019894)_%7C_X11-like_%20_protein_%20_binding_%20_(GO:0042988)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9833451 exm12665 A G . PASS FUNCOTATION=[CLSTN1|hg19|chr1|9833451|9833451|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:9833451A>G|ENST00000377298.4|-|2|886|c.93T>C|c.(91-93)gtT>gtC|p.V31V|0.4339152119700748|TGTGCTTGTTAACTGTGTTTA|CLSTN1_ENST00000361311.4_SPLICE_SITE_p.V31V/CLSTN1_ENST00000377288.3_SPLICE_SITE_p.V31V|||||||||||||||||||||||||620|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(232)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||BC033902|NM_001009566.1|NP_001009566.1|HGNC:17447|calsyntenin_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CSTN1_%2C__%20_KIAA0911_%2C__%20_CDHR12|"cadherin-related_%20_family_%20_member_%20_12"|1p36.22|2015-09-11|||AB020718||22883|ENSG00000171603|10048485||24|Cadherin_%20_related|CCDS105_%2C__%20_CCDS30580|OTTHUMG00000001451|22883|611321|NM_001009566|O94985|ENSG00000171603|uc001aqi.4|CSTN1_HUMAN||A8K183_%7C_Q5SR52_%7C_Q5UE58_%7C_Q71MN0_%7C_Q8N4K9|O94985|cell_%20_adhesion_%20_(GO:0007155)_%7C_homophilic_%20_cell_%20_adhesion_%20_(GO:0007156)|cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_projection_%20_(GO:0042995)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|beta-amyloid_%20_binding_%20_(GO:0001540)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_kinesin_%20_binding_%20_(GO:0019894)_%7C_X11-like_%20_protein_%20_binding_%20_(GO:0042988)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9909721 rs7539650 G A . PASS FUNCOTATION=[CTNNBIP1|hg19|chr1|9909721|9909721|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:9909721G>A|ENST00000377263.1|-|6|||||0.6084788029925187|CCAAAATGAGGCCTCAGGAAG|CTNNBIP1_ENST00000537447.1_THREE_PRIME_UTR/RP11-84A14.5_ENST00000454104.1_RNA|||||||||||||||||||||||||184|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471130|NM_020248.2|NP_064633.1|HGNC:16913|catenin_%20_beta_%20_interacting_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"catenin_%2C__%20_beta-interacting_%20_protein_%20_1"_%2C__%20_"catenin_%2C__%20_beta_%20_interacting_%20_protein_%20_1"|ICAT_%2C__%20_MGC15093|"beta-catenin-interacting_%20_protein_%20_ICAT"_%2C__%20_"inhibitor_%20_of_%20_beta-catenin_%20_and_%20_Tcf-4"|1p36.22|2015-11-19||2015-11-19|AB021262||56998|ENSG00000178585|10898789|NM_020248|||CCDS106|OTTHUMG00000001796|56998|607758|NM_001012329|Q9NSA3|ENSG00000178585|uc001aqk.2|CNBP1_HUMAN||Q5T4V2|Q9NSA3|anterior/posterior_%20_pattern_%20_specification_%20_(GO:0009952)_%7C_branching_%20_involved_%20_in_%20_ureteric_%20_bud_%20_morphogenesis_%20_(GO:0001658)_%7C_negative_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043392)_%7C_negative_%20_regulation_%20_of_%20_mesenchymal_%20_cell_%20_proliferation_%20_(GO:0072201)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0043433)_%7C_negative_%20_regulation_%20_of_%20_smooth_%20_muscle_%20_cell_%20_proliferation_%20_(GO:0048662)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0060633)_%7C_negative_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030178)_%7C_positive_%20_regulation_%20_of_%20_monocyte_%20_differentiation_%20_(GO:0045657)_%7C_positive_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045669)_%7C_regulation_%20_of_%20_vascular_%20_permeability_%20_involved_%20_in_%20_acute_%20_inflammatory_%20_response_%20_(GO:0002528)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055)|beta-catenin_%20_destruction_%20_complex_%20_(GO:0030877)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)|armadillo_%20_repeat_%20_domain_%20_binding_%20_(GO:0070016)_%7C_beta-catenin_%20_binding_%20_(GO:0008013)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9931246 exm12673 C A . PASS FUNCOTATION=[CTNNBIP1|hg19|chr1|9931246|9931246|SPLICE_SITE|MISSENSE|SNP|C|C|A|g.chr1:9931246C>A|ENST00000377263.1|-|5|498|c.186G>T|c.(184-186)caG>caT|p.Q62H|0.628428927680798|CCAACTCACCCTGGTCGATGG|CTNNBIP1_ENST00000400904.3_SPLICE_SITE_p.Q62H/CTNNBIP1_ENST00000377258.1_SPLICE_SITE_p.Q62H/CTNNBIP1_ENST00000377256.1_SPLICE_SITE_p.Q62H/CTNNBIP1_ENST00000537447.1_SPLICE_SITE_p.Q62H|||||||||||||||||||||||||184|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471130|NM_020248.2|NP_064633.1|HGNC:16913|catenin_%20_beta_%20_interacting_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"catenin_%2C__%20_beta-interacting_%20_protein_%20_1"_%2C__%20_"catenin_%2C__%20_beta_%20_interacting_%20_protein_%20_1"|ICAT_%2C__%20_MGC15093|"beta-catenin-interacting_%20_protein_%20_ICAT"_%2C__%20_"inhibitor_%20_of_%20_beta-catenin_%20_and_%20_Tcf-4"|1p36.22|2015-11-19||2015-11-19|AB021262||56998|ENSG00000178585|10898789|NM_020248|||CCDS106|OTTHUMG00000001796|56998|607758|NM_001012329|Q9NSA3|ENSG00000178585|uc001aqk.2|CNBP1_HUMAN||Q5T4V2|Q9NSA3|anterior/posterior_%20_pattern_%20_specification_%20_(GO:0009952)_%7C_branching_%20_involved_%20_in_%20_ureteric_%20_bud_%20_morphogenesis_%20_(GO:0001658)_%7C_negative_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043392)_%7C_negative_%20_regulation_%20_of_%20_mesenchymal_%20_cell_%20_proliferation_%20_(GO:0072201)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0043433)_%7C_negative_%20_regulation_%20_of_%20_smooth_%20_muscle_%20_cell_%20_proliferation_%20_(GO:0048662)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0060633)_%7C_negative_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030178)_%7C_positive_%20_regulation_%20_of_%20_monocyte_%20_differentiation_%20_(GO:0045657)_%7C_positive_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045669)_%7C_regulation_%20_of_%20_vascular_%20_permeability_%20_involved_%20_in_%20_acute_%20_inflammatory_%20_response_%20_(GO:0002528)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055)|beta-catenin_%20_destruction_%20_complex_%20_(GO:0030877)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)|armadillo_%20_repeat_%20_domain_%20_binding_%20_(GO:0070016)_%7C_beta-catenin_%20_binding_%20_(GO:0008013)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9932027 exm12680 G A . PASS FUNCOTATION=[CTNNBIP1|hg19|chr1|9932027|9932027|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:9932027G>A|ENST00000377263.1|-|4|408|c.96C>T|c.(94-96)aaC>aaT|p.N32N|0.6334164588528678|AGGCACTCACGTTTGATCCCA|CTNNBIP1_ENST00000400904.3_SPLICE_SITE_p.N32N/CTNNBIP1_ENST00000377258.1_SPLICE_SITE_p.N32N/CTNNBIP1_ENST00000377256.1_SPLICE_SITE_p.N32N/CTNNBIP1_ENST00000537447.1_SPLICE_SITE_p.N32N|||||||||||||||||||||||||184|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471130|NM_020248.2|NP_064633.1|HGNC:16913|catenin_%20_beta_%20_interacting_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"catenin_%2C__%20_beta-interacting_%20_protein_%20_1"_%2C__%20_"catenin_%2C__%20_beta_%20_interacting_%20_protein_%20_1"|ICAT_%2C__%20_MGC15093|"beta-catenin-interacting_%20_protein_%20_ICAT"_%2C__%20_"inhibitor_%20_of_%20_beta-catenin_%20_and_%20_Tcf-4"|1p36.22|2015-11-19||2015-11-19|AB021262||56998|ENSG00000178585|10898789|NM_020248|||CCDS106|OTTHUMG00000001796|56998|607758|NM_001012329|Q9NSA3|ENSG00000178585|uc001aqk.2|CNBP1_HUMAN||Q5T4V2|Q9NSA3|anterior/posterior_%20_pattern_%20_specification_%20_(GO:0009952)_%7C_branching_%20_involved_%20_in_%20_ureteric_%20_bud_%20_morphogenesis_%20_(GO:0001658)_%7C_negative_%20_regulation_%20_of_%20_DNA_%20_binding_%20_(GO:0043392)_%7C_negative_%20_regulation_%20_of_%20_mesenchymal_%20_cell_%20_proliferation_%20_(GO:0072201)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0043433)_%7C_negative_%20_regulation_%20_of_%20_smooth_%20_muscle_%20_cell_%20_proliferation_%20_(GO:0048662)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0060633)_%7C_negative_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030178)_%7C_positive_%20_regulation_%20_of_%20_monocyte_%20_differentiation_%20_(GO:0045657)_%7C_positive_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045669)_%7C_regulation_%20_of_%20_vascular_%20_permeability_%20_involved_%20_in_%20_acute_%20_inflammatory_%20_response_%20_(GO:0002528)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055)|beta-catenin_%20_destruction_%20_complex_%20_(GO:0030877)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)|armadillo_%20_repeat_%20_domain_%20_binding_%20_(GO:0070016)_%7C_beta-catenin_%20_binding_%20_(GO:0008013)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 9994822 indel.687 CT C . PASS FUNCOTATION=[LZIC|hg19|chr1|9994823|9994823|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:9994823delT|ENST00000377223.1|-|5|582|c.333delA|c.(331-333)gcafs|p.E112fs|0.3516209476309227|ATTTTACCTCTGCTAACCTTG|LZIC_ENST00000377213.1_FRAME_SHIFT_DEL_p.E112fs/LZIC_ENST00000400903.2_FRAME_SHIFT_DEL_p.E112fs/LZIC_ENST00000541052.1_FRAME_SHIFT_DEL_p.E133fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471130|||HGNC:17497|leucine_%20_zipper_%20_and_%20_CTNNBIP1_%20_domain_%20_containing|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC15436||1p36.22|2014-11-18|||AB060688||84328|ENSG00000162441|11712074|NM_032368|||CCDS107|OTTHUMG00000001804|84328|610458|NM_001316973|Q8WZA0|ENSG00000162441|uc001aqo.4|LZIC_HUMAN||B2R6F0_%7C_B4E2N0_%7C_Q96IU1|Q8WZA0|response_%20_to_%20_ionizing_%20_radiation_%20_(GO:0010212)||||||true|false||false|false|||false|false|false|LZIC:84328|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|866608629|9994823|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|147|rs866608629|] +1 9996684 exm1958934 C T . PASS FUNCOTATION=[LZIC|hg19|chr1|9996684|9996684|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:9996684C>T|ENST00000377223.1|-|3|||||0.4139650872817955|CCATTTTAATCTCTATGTGAA|LZIC_ENST00000377213.1_FIVE_PRIME_UTR/LZIC_ENST00000400903.2_FIVE_PRIME_UTR/LZIC_ENST00000541052.1_SPLICE_SITE_p.E19E|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471130|||HGNC:17497|leucine_%20_zipper_%20_and_%20_CTNNBIP1_%20_domain_%20_containing|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC15436||1p36.22|2014-11-18|||AB060688||84328|ENSG00000162441|11712074|NM_032368|||CCDS107|OTTHUMG00000001804|84328|610458|NM_001316973|Q8WZA0|ENSG00000162441|uc001aqo.4|LZIC_HUMAN||B2R6F0_%7C_B4E2N0_%7C_Q96IU1|Q8WZA0|response_%20_to_%20_ionizing_%20_radiation_%20_(GO:0010212)||||||true|false||false|false|||false|false|false|LZIC:84328|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|199633051|9996684|false|false|0|false|0|true||false|false|true|SNV|true|0x050000400305040402000100|1|false|137|rs199633051|] +1 10042426 variant.688 G A . PASS FUNCOTATION=[NMNAT1|hg19|chr1|10042426|10042426|NONSENSE||SNP|G|G|A|g.chr1:10042426G>A|ENST00000377205.1|+|5|651|c.507G>A|c.(505-507)tgG>tgA|p.W169*|0.45885286783042395|CCAATTTGTGGAAGAGTGAAG|RP11-807G9.2_ENST00000413148.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471130|NM_022787.3|NP_073624.2|HGNC:17877|nicotinamide_%20_nucleotide_%20_adenylyltransferase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|LCA9|"nicotinamide_%20_nucleotide_%20_adenylyltransferase"_%2C__%20_"Leber_%20_congenital_%20_amaurosis_%20_9"_%2C__%20_"Leber's_%20_congenital_%20_amaurosis_%20_9"|NMNAT_%2C__%20_PNAT1||1p36.22|2014-11-19|2003-05-02|2003-04-30|AF312734|2.7.7.1|64802|ENSG00000173614|11248244_%2C__%20_11027696_%2C__%20_22842227||||CCDS108_%2C__%20_CCDS72698|OTTHUMG00000001799|64802|608700|NM_001297778|Q9HAN9|ENSG00000173614|uc001aqp.3|NMNA1_HUMAN||B1AN63_%7C_Q8TAE9_%7C_Q9H247_%7C_Q9H6B6|Q9HAN9|NAD_%20_biosynthetic_%20_process_%20_(GO:0009435)_%7C_NAD_%20_metabolic_%20_process_%20_(GO:0019674)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_nicotinamide-nucleotide_%20_adenylyltransferase_%20_activity_%20_(GO:0000309)_%7C_nicotinate-nucleotide_%20_adenylyltransferase_%20_activity_%20_(GO:0004515)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 10438687 rs1536262 C T . PASS FUNCOTATION=[KIF1B|hg19|chr1|10438687|10438687|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:10438687C>T|ENST00000377081.1|+|48|||||0.5087281795511222|TCCCGCTTCACGCAGCAAAGG|KIF1B_ENST00000377086.1_THREE_PRIME_UTR|||||||||||||||||||||||||212|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_skin(2)_%7C_upper_aerodigestive_tract(120)|||||||BT007174|||HGNC:16636|kinesin_%20_family_%20_member_%20_1B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CMT2A_%2C__%20_CMT2||KIAA0591_%2C__%20_KLP_%2C__%20_HMSNII||1p36.22|2017-03-24|||AF257176||23095|ENSG00000054523|11389829_%2C__%20_10762626||682_%7C_622|Pleckstrin_%20_homology_%20_domain_%20_containing_%7C_Kinesins|CCDS111_%2C__%20_CCDS112|OTTHUMG00000001817|23095|605995|NM_015074|O60333|ENSG00000054523|uc001aqw.5|KIF1B_HUMAN||A6NFS8_%7C_A6NKQ4_%7C_Q4VXC3_%7C_Q4VXC4_%7C_Q4VXC5_%7C_Q4VXC6_%7C_Q96Q94_%7C_Q9BV80_%7C_Q9P280|O60333|anterograde_%20_axon_%20_cargo_%20_transport_%20_(GO:0008089)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_cytoskeleton-dependent_%20_intracellular_%20_transport_%20_(GO:0030705)_%7C_microtubule-based_%20_movement_%20_(GO:0007018)_%7C_mitochondrion_%20_transport_%20_along_%20_microtubule_%20_(GO:0047497)_%7C_neuromuscular_%20_synaptic_%20_transmission_%20_(GO:0007274)_%7C_neuron-neuron_%20_synaptic_%20_transmission_%20_(GO:0007270)_%7C_vesicle-mediated_%20_transport_%20_(GO:0016192)|cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_cytoplasmic_%20_vesicle_%20_membrane_%20_(GO:0030659)_%7C_kinesin_%20_complex_%20_(GO:0005871)_%7C_microtubule_%20_(GO:0005874)_%7C_microtubule_%20_associated_%20_complex_%20_(GO:0005875)_%7C_mitochondrion_%20_(GO:0005739)_%7C_neuron_%20_projection_%20_(GO:0043005)|ATP_%20_binding_%20_(GO:0005524)_%7C_ATPase_%20_activity_%20_(GO:0016887)_%7C_kinesin_%20_binding_%20_(GO:0019894)_%7C_microtubule_%20_motor_%20_activity_%20_(GO:0003777)_%7C_plus-end-directed_%20_microtubule_%20_motor_%20_activity_%20_(GO:0008574)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 10478954 indel.710 TC T . PASS FUNCOTATION=[PGD|hg19|chr1|10478955|10478955|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:10478955delC|ENST00000270776.8|+|11|1219|c.1182delC|c.(1180-1182)ttcfs|p.F395fs|0.46384039900249374|TGGACGACTTCTTTAAGTCAG|PGD_ENST00000538557.1_FRAME_SHIFT_DEL_p.F382fs/PGD_ENST00000541529.1_FRAME_SHIFT_DEL_p.F373fs/PGD_ENST00000498356.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U30255|NM_002631.2|NP_002622.2|HGNC:8891|phosphogluconate_%20_dehydrogenase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.22|2014-11-18|||BC000368|1.1.1.43|5226|ENSG00000142657||NM_002631|||CCDS113|OTTHUMG00000001905|5226|172200|NM_001304451|P52209|ENSG00000142657|uc001arc.4|6PGD_HUMAN|Dacarbazine(DB00851)_%7C_Furosemide(DB00695)_%7C_Gadopentetate_%20_dimeglumine(DB00789)_%7C_Ketotifen(DB00920)_%7C_Meloxicam(DB00814)_%7C_Methotrexate(DB00563)_%7C_Ritodrine(DB00867)|A8K2Y9_%7C_B4DQJ8_%7C_Q9BWD8|P52209|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_D-gluconate_%20_metabolic_%20_process_%20_(GO:0019521)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_pentose_%20_biosynthetic_%20_process_%20_(GO:0019322)_%7C_pentose-phosphate_%20_shunt_%20_(GO:0006098)_%7C_pentose-phosphate_%20_shunt_%2C__%20_oxidative_%20_branch_%20_(GO:0009051)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleus_%20_(GO:0005634)|NADP_%20_binding_%20_(GO:0050661)_%7C_phosphogluconate_%20_dehydrogenase_%20_(decarboxylating)_%20_activity_%20_(GO:0004616)||||true|false||false|false|||false|false|false|PGD:5226|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|767877628|10478955|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs767877628|] +1 10489949 psy_rs147415571 G A . PASS FUNCOTATION=[APITD1|hg19|chr1|10489949|10489949|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:10489949G>A|ENST00000309048.3|+||||||0.4688279301745636|TGGGTTTGATGGTCTCACTTC|APITD1-CORT_ENST00000400900.2_FIVE_PRIME_FLANK/APITD1-CORT_ENST00000470413.2_FIVE_PRIME_FLANK/APITD1_ENST00000602296.1_FIVE_PRIME_FLANK/APITD1_ENST00000602787.1_FIVE_PRIME_FLANK/RP4-736L20.3_ENST00000607572.1_RNA/APITD1_ENST00000462462.1_FIVE_PRIME_FLANK/APITD1-CORT_ENST00000465026.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC029430|NM_199294.2|NP_954988.1||||||||||||||||||||||||||||||CENPS_HUMAN||Q8NFE5_%7C_Q8NFG5|Q8N2Z9|cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_DNA_%20_repair_%20_(GO:0006281)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031398)_%7C_replication_%20_fork_%20_processing_%20_(GO:0031297)_%7C_resolution_%20_of_%20_meiotic_%20_recombination_%20_intermediates_%20_(GO:0000712)|cytosol_%20_(GO:0005829)_%7C_FANCM-MHF_%20_complex_%20_(GO:0071821)_%7C_Fanconi_%20_anaemia_%20_nuclear_%20_complex_%20_(GO:0043240)_%7C_kinetochore_%20_(GO:0000776)|chromatin_%20_binding_%20_(GO:0003682)_%7C_DNA_%20_binding_%20_(GO:0003677)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 10494013 newrs138619348 C T . PASS FUNCOTATION=[APITD1-CORT|hg19|chr1|10494013|10494013|NONSENSE||SNP|C|C|T|g.chr1:10494013C>T|ENST00000400900.2|+|2|582|c.166C>T|c.(166-168)Cga>Tga|p.R56*|0.4688279301745636|GCTGACTTTCCGACAGTGTGG|APITD1_ENST00000309048.3_NONSENSE_p.R56*/APITD1-CORT_ENST00000470413.2_NONSENSE_p.R56*/APITD1_ENST00000602787.1_NONSENSE_p.R56*/APITD1_ENST00000602296.1_NONSENSE_p.R56*/APITD1_ENST00000462462.1_INTRON/APITD1-CORT_ENST00000465026.1_INTRON/RP4-736L20.3_ENST00000607572.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 10502373 exm13281 C T . PASS FUNCOTATION=[APITD1|hg19|chr1|10502373|10502373|NONSENSE||SNP|C|C|T|g.chr1:10502373C>T|ENST00000309048.3|+|5|403|c.328C>T|c.(328-330)Cga>Tga|p.R110*|0.3740648379052369|TAACCTAGAACGAAAAGCACA|APITD1-CORT_ENST00000400900.2_INTRON/APITD1-CORT_ENST00000470413.2_INTRON/APITD1_ENST00000602787.1_INTRON/APITD1_ENST00000602296.1_INTRON/APITD1_ENST00000462462.1_INTRON/APITD1-CORT_ENST00000465026.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC029430|NM_199294.2|NP_954988.1||||||||||||||||||||||||||||||CENPS_HUMAN||Q8NFE5_%7C_Q8NFG5|Q8N2Z9|cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_DNA_%20_repair_%20_(GO:0006281)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031398)_%7C_replication_%20_fork_%20_processing_%20_(GO:0031297)_%7C_resolution_%20_of_%20_meiotic_%20_recombination_%20_intermediates_%20_(GO:0000712)|cytosol_%20_(GO:0005829)_%7C_FANCM-MHF_%20_complex_%20_(GO:0071821)_%7C_Fanconi_%20_anaemia_%20_nuclear_%20_complex_%20_(GO:0043240)_%7C_kinetochore_%20_(GO:0000776)|chromatin_%20_binding_%20_(GO:0003682)_%7C_DNA_%20_binding_%20_(GO:0003677)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 10502710 rs2847337 A G . PASS FUNCOTATION=[APITD1|hg19|chr1|10502710|10502710|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:10502710A>G|ENST00000309048.3|+|5|||||0.32169576059850374|GTGTGTGATCAAATGGTATAT|APITD1-CORT_ENST00000400900.2_INTRON/APITD1-CORT_ENST00000470413.2_INTRON/APITD1_ENST00000602787.1_INTRON/APITD1_ENST00000602296.1_INTRON/APITD1-CORT_ENST00000465026.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC029430|NM_199294.2|NP_954988.1||||||||||||||||||||||||||||||CENPS_HUMAN||Q8NFE5_%7C_Q8NFG5|Q8N2Z9|cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_DNA_%20_repair_%20_(GO:0006281)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031398)_%7C_replication_%20_fork_%20_processing_%20_(GO:0031297)_%7C_resolution_%20_of_%20_meiotic_%20_recombination_%20_intermediates_%20_(GO:0000712)|cytosol_%20_(GO:0005829)_%7C_FANCM-MHF_%20_complex_%20_(GO:0071821)_%7C_Fanconi_%20_anaemia_%20_nuclear_%20_complex_%20_(GO:0043240)_%7C_kinetochore_%20_(GO:0000776)|chromatin_%20_binding_%20_(GO:0003682)_%7C_DNA_%20_binding_%20_(GO:0003677)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 10596294 variant.728 C T . PASS FUNCOTATION=[PEX14|hg19|chr1|10596294|10596294|NONSENSE||SNP|C|C|T|g.chr1:10596294C>T|ENST00000356607.4|+|3|189|c.109C>T|c.(109-111)Cag>Tag|p.Q37*|0.48877805486284287|GAAGTTTCTACAGAATTCCCG|PEX14_ENST00000538836.1_INTRON/PEX14_ENST00000492696.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR542083|NM_004565.2|NP_004556.1|HGNC:8856|peroxisomal_%20_biogenesis_%20_factor_%20_14|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.22|2014-11-18|||AF045186||5195|ENSG00000142655|9653144||957|Peroxins|CCDS30582|OTTHUMG00000001908|5195|601791|NM_004565|O75381|ENSG00000142655|uc001arn.5|PEX14_HUMAN||B2R7N1_%7C_B3KML6_%7C_B7Z1N2_%7C_Q8WX51|O75381|microtubule_%20_anchoring_%20_(GO:0034453)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_homotetramerization_%20_(GO:1901094)_%7C_negative_%20_regulation_%20_of_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0043433)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_peroxisome_%20_organization_%20_(GO:0007031)_%7C_peroxisome_%20_transport_%20_along_%20_microtubule_%20_(GO:0036250)_%7C_protein_%20_complex_%20_assembly_%20_(GO:0006461)_%7C_protein_%20_homooligomerization_%20_(GO:0051260)_%7C_protein_%20_import_%20_into_%20_peroxisome_%20_matrix_%20_(GO:0016558)_%7C_protein_%20_import_%20_into_%20_peroxisome_%20_matrix_%2C__%20_substrate_%20_release_%20_(GO:0044721)_%7C_protein_%20_import_%20_into_%20_peroxisome_%20_matrix_%2C__%20_translocation_%20_(GO:0016561)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intracellular_%20_(GO:0005622)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_membrane_%20_(GO:0016020)_%7C_nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)_%7C_peroxisomal_%20_membrane_%20_(GO:0005778)_%7C_peroxisome_%20_(GO:0005777)_%7C_protein_%20_complex_%20_(GO:0043234)|beta-tubulin_%20_binding_%20_(GO:0048487)_%7C_microtubule_%20_binding_%20_(GO:0008017)_%7C_protein_%20_N-terminus_%20_binding_%20_(GO:0047485)_%7C_receptor_%20_binding_%20_(GO:0005102)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 11015136 var_1_11015136 G A . PASS FUNCOTATION=[C1orf127|hg19|chr1|11015136|11015136|NONSENSE||SNP|G|G|A|g.chr1:11015136G>A|ENST00000377004.4|-|9|886|c.886C>T|c.(886-888)Cga>Tga|p.R296*|0.543640897755611|TGGTGGACTCGGAGGAATCTG|C1orf127_ENST00000377008.4_NONSENSE_p.R129*|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC143794|NM_001170754.1|NP_001164225.1|HGNC:26730|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_127|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ37118||1p36.22|2016-09-30|||AK094437||148345|ENSG00000175262|14702039|NM_173507|||CCDS53267|OTTHUMG00000002032|148345||NM_001170754|Q8N9H9|ENSG00000175262|uc010oao.2|CA127_HUMAN||A0AVG8_%7C_A6NKM7_%7C_Q5VXJ2|Q8N9H9|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 11087334 newrs137990115 C A . PASS FUNCOTATION=[MASP2|hg19|chr1|11087334|11087334|NONSENSE||SNP|C|C|A|g.chr1:11087334C>A|ENST00000400897.3|-|11|1685|c.1669G>T|c.(1669-1671)Gaa>Taa|p.E557*|0.4089775561097257|GATTCAGCTTCTTTTCTTGGC|RP4-635E18.8_ENST00000607145.1_FIVE_PRIME_FLANK|GBM(35_%3B_611_%20_746_%20_20780_%20_22741_%20_36496)||||||||||||||||||||||||137|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_stomach(47)|||||||Y18287|NM_006610.3|NP_006601.2|HGNC:6902|mannan_%20_binding_%20_lectin_%20_serine_%20_peptidase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MASP1P1|"mannan-binding_%20_lectin_%20_serine_%20_protease_%20_2"_%2C__%20_"mannan-binding_%20_lectin_%20_serine_%20_peptidase_%20_1_%20_pseudogene_%20_1"_%2C__%20_"mannan-binding_%20_lectin_%20_serine_%20_protease_%20_1_%20_pseudogene_%20_1"|||1p36.22|2017-03-24||2016-03-08|X98400||10747|ENSG00000009724|9087411_%2C__%20_9777418|NM_006610|1179|Sushi_%20_domain_%20_containing|CCDS123_%2C__%20_CCDS124|OTTHUMG00000002121|10747|605102|NM_006610|O00187|ENSG00000009724|uc001aru.4|MASP2_HUMAN||A8K458_%7C_A8MWJ2_%7C_O75754_%7C_Q5TEQ5_%7C_Q5TER0_%7C_Q96QG4_%7C_Q9BZH0_%7C_Q9H498_%7C_Q9H499_%7C_Q9UBP3_%7C_Q9UC48_%7C_Q9ULC7_%7C_Q9UMV3_%7C_Q9Y270|O00187|complement_%20_activation_%20_(GO:0006956)_%7C_complement_%20_activation_%2C__%20_classical_%20_pathway_%20_(GO:0006958)_%7C_complement_%20_activation_%2C__%20_lectin_%20_pathway_%20_(GO:0001867)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_calcium-dependent_%20_protein_%20_binding_%20_(GO:0048306)_%7C_complement_%20_component_%20_C4b_%20_binding_%20_(GO:0001855)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 11097774 variant.758 G T . PASS FUNCOTATION=[MASP2|hg19|chr1|11097774|11097774|NONSENSE||SNP|G|G|T|g.chr1:11097774G>T|ENST00000400897.3|-|7|1000|c.984C>A|c.(982-984)tgC>tgA|p.C328*|0.4089775561097257|AGCCAGTCTCGCAAAAGATGG||GBM(35_%3B_611_%20_746_%20_20780_%20_22741_%20_36496)||||||||||||||||||||||||137|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_stomach(47)|||||||Y18287|NM_006610.3|NP_006601.2|HGNC:6902|mannan_%20_binding_%20_lectin_%20_serine_%20_peptidase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MASP1P1|"mannan-binding_%20_lectin_%20_serine_%20_protease_%20_2"_%2C__%20_"mannan-binding_%20_lectin_%20_serine_%20_peptidase_%20_1_%20_pseudogene_%20_1"_%2C__%20_"mannan-binding_%20_lectin_%20_serine_%20_protease_%20_1_%20_pseudogene_%20_1"|||1p36.22|2017-03-24||2016-03-08|X98400||10747|ENSG00000009724|9087411_%2C__%20_9777418|NM_006610|1179|Sushi_%20_domain_%20_containing|CCDS123_%2C__%20_CCDS124|OTTHUMG00000002121|10747|605102|NM_006610|O00187|ENSG00000009724|uc001aru.4|MASP2_HUMAN||A8K458_%7C_A8MWJ2_%7C_O75754_%7C_Q5TEQ5_%7C_Q5TER0_%7C_Q96QG4_%7C_Q9BZH0_%7C_Q9H498_%7C_Q9H499_%7C_Q9UBP3_%7C_Q9UC48_%7C_Q9ULC7_%7C_Q9UMV3_%7C_Q9Y270|O00187|complement_%20_activation_%20_(GO:0006956)_%7C_complement_%20_activation_%2C__%20_classical_%20_pathway_%20_(GO:0006958)_%7C_complement_%20_activation_%2C__%20_lectin_%20_pathway_%20_(GO:0001867)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_calcium-dependent_%20_protein_%20_binding_%20_(GO:0048306)_%7C_complement_%20_component_%20_C4b_%20_binding_%20_(GO:0001855)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 11106783 exm14040 G T . PASS FUNCOTATION=[MASP2|hg19|chr1|11106783|11106783|NONSENSE||SNP|G|G|T|g.chr1:11106783G>T|ENST00000400897.3|-|3|258|c.242C>A|c.(241-243)tCg>tAg|p.S81*|0.6433915211970075|CTTGGCCCCCGAGCTCAGCTG|MASP2_ENST00000400898.3_NONSENSE_p.S81*|GBM(35_%3B_611_%20_746_%20_20780_%20_22741_%20_36496)||||||||||||||||||||||||137|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_stomach(47)|||||||Y18287|NM_006610.3|NP_006601.2|HGNC:6902|mannan_%20_binding_%20_lectin_%20_serine_%20_peptidase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MASP1P1|"mannan-binding_%20_lectin_%20_serine_%20_protease_%20_2"_%2C__%20_"mannan-binding_%20_lectin_%20_serine_%20_peptidase_%20_1_%20_pseudogene_%20_1"_%2C__%20_"mannan-binding_%20_lectin_%20_serine_%20_protease_%20_1_%20_pseudogene_%20_1"|||1p36.22|2017-03-24||2016-03-08|X98400||10747|ENSG00000009724|9087411_%2C__%20_9777418|NM_006610|1179|Sushi_%20_domain_%20_containing|CCDS123_%2C__%20_CCDS124|OTTHUMG00000002121|10747|605102|NM_006610|O00187|ENSG00000009724|uc001aru.4|MASP2_HUMAN||A8K458_%7C_A8MWJ2_%7C_O75754_%7C_Q5TEQ5_%7C_Q5TER0_%7C_Q96QG4_%7C_Q9BZH0_%7C_Q9H498_%7C_Q9H499_%7C_Q9UBP3_%7C_Q9UC48_%7C_Q9ULC7_%7C_Q9UMV3_%7C_Q9Y270|O00187|complement_%20_activation_%20_(GO:0006956)_%7C_complement_%20_activation_%2C__%20_classical_%20_pathway_%20_(GO:0006958)_%7C_complement_%20_activation_%2C__%20_lectin_%20_pathway_%20_(GO:0001867)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_calcium-dependent_%20_protein_%20_binding_%20_(GO:0048306)_%7C_complement_%20_component_%20_C4b_%20_binding_%20_(GO:0001855)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 11128123 exm1694875 T A . PASS FUNCOTATION=[EXOSC10|hg19|chr1|11128123|11128123|NONSENSE||SNP|T|T|A|g.chr1:11128123T>A|ENST00000376936.4|-|24|2619|c.2569A>T|c.(2569-2571)Aaa>Taa|p.K857*|0.5311720698254364|TGTTTAATTTTTTTGGCTGCA|EXOSC10_ENST00000304457.7_NONSENSE_p.K832*/EXOSC10_ENST00000544779.1_THREE_PRIME_UTR/RP4-635E18.7_ENST00000452378.1_FIVE_PRIME_FLANK|Colon(179_%3B_105_%20_1987_%20_14326_%20_27364_%20_29542)||||||||||||||||||||||||115|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_upper_aerodigestive_tract(1)|||||||X66113|NM_001001998.1|NP_001001998.1|HGNC:9138|exosome_%20_component_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PMSCL2|"polymyositis/scleroderma_%20_autoantigen_%20_2_%2C__%20_100kDa"|PM-Scl_%2C__%20_PM/Scl-100_%2C__%20_Rrp6p_%2C__%20_RRP6_%2C__%20_p2_%2C__%20_p3_%2C__%20_p4|"polymyositis/scleroderma_%20_autoantigen_%20_2_%20_(100kD)"|1p36.22|2014-11-19|2004-06-18|2004-06-16|BC073788||5394|ENSG00000171824|1383382_%2C__%20_1644924|NM_001001998|817|Exosome_%20_complex|CCDS126_%2C__%20_CCDS30584|OTTHUMG00000002123|5394|605960|NM_001001998|Q01780|ENSG00000171824|uc001asb.4|EXOSX_HUMAN||B1AKQ0_%7C_B1AKQ1_%7C_Q15158|Q01780|CUT_%20_catabolic_%20_process_%20_(GO:0071034)_%7C_dosage_%20_compensation_%20_by_%20_inactivation_%20_of_%20_X_%20_chromosome_%20_(GO:0009048)_%7C_histone_%20_mRNA_%20_catabolic_%20_process_%20_(GO:0071044)_%7C_maturation_%20_of_%20_5.8S_%20_rRNA_%20_(GO:0000460)_%7C_nuclear_%20_mRNA_%20_surveillance_%20_(GO:0071028)_%7C_nuclear_%20_polyadenylation-dependent_%20_rRNA_%20_catabolic_%20_process_%20_(GO:0071035)_%7C_nuclear_%20_retention_%20_of_%20_unspliced_%20_pre-mRNA_%20_at_%20_the_%20_site_%20_of_%20_transcription_%20_(GO:0071048)_%7C_nuclear-transcribed_%20_mRNA_%20_catabolic_%20_process_%20_(GO:0000956)_%7C_nuclear-transcribed_%20_mRNA_%20_catabolic_%20_process_%2C__%20_nonsense-mediated_%20_decay_%20_(GO:0000184)_%7C_RNA_%20_phosphodiester_%20_bond_%20_hydrolysis_%2C__%20_exonucleolytic_%20_(GO:0090503)|cytoplasm_%20_(GO:0005737)_%7C_exosome_%20_(RNase_%20_complex)_%20_(GO:0000178)_%7C_membrane_%20_(GO:0016020)_%7C_nuclear_%20_exosome_%20_(RNase_%20_complex)_%20_(GO:0000176)_%7C_nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)_%7C_transcriptionally_%20_active_%20_chromatin_%20_(GO:0035327)|3'-5'_%20_exonuclease_%20_activity_%20_(GO:0008408)_%7C_exoribonuclease_%20_activity_%20_(GO:0004532)_%7C_nucleotide_%20_binding_%20_(GO:0000166)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 11147637 var_1_11147637 G T . PASS FUNCOTATION=[EXOSC10|hg19|chr1|11147637|11147637|NONSENSE||SNP|G|G|T|g.chr1:11147637G>T|ENST00000376936.4|-|9|1007|c.957C>A|c.(955-957)taC>taA|p.Y319*|0.38403990024937656|GGAAGCTCCTGTAAGAGTGGT|EXOSC10_ENST00000304457.7_NONSENSE_p.Y319*/EXOSC10_ENST00000544779.1_NONSENSE_p.Y319*/EXOSC10_ENST00000485606.1_FIVE_PRIME_FLANK|Colon(179_%3B_105_%20_1987_%20_14326_%20_27364_%20_29542)||||||||||||||||||||||||115|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_upper_aerodigestive_tract(1)|||||||X66113|NM_001001998.1|NP_001001998.1|HGNC:9138|exosome_%20_component_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PMSCL2|"polymyositis/scleroderma_%20_autoantigen_%20_2_%2C__%20_100kDa"|PM-Scl_%2C__%20_PM/Scl-100_%2C__%20_Rrp6p_%2C__%20_RRP6_%2C__%20_p2_%2C__%20_p3_%2C__%20_p4|"polymyositis/scleroderma_%20_autoantigen_%20_2_%20_(100kD)"|1p36.22|2014-11-19|2004-06-18|2004-06-16|BC073788||5394|ENSG00000171824|1383382_%2C__%20_1644924|NM_001001998|817|Exosome_%20_complex|CCDS126_%2C__%20_CCDS30584|OTTHUMG00000002123|5394|605960|NM_001001998|Q01780|ENSG00000171824|uc001asb.4|EXOSX_HUMAN||B1AKQ0_%7C_B1AKQ1_%7C_Q15158|Q01780|CUT_%20_catabolic_%20_process_%20_(GO:0071034)_%7C_dosage_%20_compensation_%20_by_%20_inactivation_%20_of_%20_X_%20_chromosome_%20_(GO:0009048)_%7C_histone_%20_mRNA_%20_catabolic_%20_process_%20_(GO:0071044)_%7C_maturation_%20_of_%20_5.8S_%20_rRNA_%20_(GO:0000460)_%7C_nuclear_%20_mRNA_%20_surveillance_%20_(GO:0071028)_%7C_nuclear_%20_polyadenylation-dependent_%20_rRNA_%20_catabolic_%20_process_%20_(GO:0071035)_%7C_nuclear_%20_retention_%20_of_%20_unspliced_%20_pre-mRNA_%20_at_%20_the_%20_site_%20_of_%20_transcription_%20_(GO:0071048)_%7C_nuclear-transcribed_%20_mRNA_%20_catabolic_%20_process_%20_(GO:0000956)_%7C_nuclear-transcribed_%20_mRNA_%20_catabolic_%20_process_%2C__%20_nonsense-mediated_%20_decay_%20_(GO:0000184)_%7C_RNA_%20_phosphodiester_%20_bond_%20_hydrolysis_%2C__%20_exonucleolytic_%20_(GO:0090503)|cytoplasm_%20_(GO:0005737)_%7C_exosome_%20_(RNase_%20_complex)_%20_(GO:0000178)_%7C_membrane_%20_(GO:0016020)_%7C_nuclear_%20_exosome_%20_(RNase_%20_complex)_%20_(GO:0000176)_%7C_nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)_%7C_transcriptionally_%20_active_%20_chromatin_%20_(GO:0035327)|3'-5'_%20_exonuclease_%20_activity_%20_(GO:0008408)_%7C_exoribonuclease_%20_activity_%20_(GO:0004532)_%7C_nucleotide_%20_binding_%20_(GO:0000166)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 11253688 exm14418 C T . PASS FUNCOTATION=[ANGPTL7|hg19|chr1|11253688|11253688|NONSENSE||SNP|C|C|T|g.chr1:11253688C>T|ENST00000376819.3|+|3|768|c.529C>T|c.(529-531)Cga>Tga|p.R177*|0.5960099750623441|CATCCAGAGACGAAAAAGTGG|MTOR_ENST00000361445.4_INTRON/ANGPTL7_ENST00000476934.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Y16132|NM_021146.3|NP_066969.1|HGNC:24078|angiopoietin_%20_like_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"angiopoietin-like_%20_7"|CDT6_%2C__%20_AngX||1p36.22|2016-10-05||2015-11-11|Y16132||10218|ENSG00000171819|9727400_%2C__%20_11682471|NM_021146|554_%7C_905|Fibrinogen_%20_C_%20_domain_%20_containing_%7C_Angiopoietin_%20_like|CCDS128|OTTHUMG00000002002|10218||NM_021146|O43827|ENSG00000171819|uc001ase.5|ANGL7_HUMAN||B2R9B2_%7C_F1T0A6_%7C_Q4ZGK4|O43827|response_%20_to_%20_oxidative_%20_stress_%20_(GO:0006979)|extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 11253722 exm14420 G A . PASS FUNCOTATION=[ANGPTL7|hg19|chr1|11253722|11253722|NONSENSE||SNP|G|G|A|g.chr1:11253722G>A|ENST00000376819.3|+|3|802|c.563G>A|c.(562-564)tGg>tAg|p.W188*|0.5860349127182045|TACCGGGACTGGAAGCAGTAC|MTOR_ENST00000361445.4_INTRON/ANGPTL7_ENST00000476934.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Y16132|NM_021146.3|NP_066969.1|HGNC:24078|angiopoietin_%20_like_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"angiopoietin-like_%20_7"|CDT6_%2C__%20_AngX||1p36.22|2016-10-05||2015-11-11|Y16132||10218|ENSG00000171819|9727400_%2C__%20_11682471|NM_021146|554_%7C_905|Fibrinogen_%20_C_%20_domain_%20_containing_%7C_Angiopoietin_%20_like|CCDS128|OTTHUMG00000002002|10218||NM_021146|O43827|ENSG00000171819|uc001ase.5|ANGL7_HUMAN||B2R9B2_%7C_F1T0A6_%7C_Q4ZGK4|O43827|response_%20_to_%20_oxidative_%20_stress_%20_(GO:0006979)|extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 11346336 psy_rs11580061 A G . PASS FUNCOTATION=[UBIAD1|hg19|chr1|11346336|11346336|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:11346336A>G|ENST00000376810.5|+|2|||||0.38902743142144636|TGTGTTCTTAAAGATAATATG|UBIAD1_ENST00000376804.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471130|NM_013319.2|NP_037451.1|HGNC:30791|UbiA_%20_prenyltransferase_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SCCD|"Schnyder_%20_crystalline_%20_corneal_%20_dystrophy"|TERE1|"transitional_%20_epithelia_%20_response_%20_protein"|1p36.22|2014-11-19|||||29914|ENSG00000120942|20953171_%2C__%20_12497587_%2C__%20_11314041_%2C__%20_17668063_%2C__%20_17962451_%2C__%20_8894705|NM_013319|||CCDS129_%2C__%20_CCDS81260|OTTHUMG00000002075|29914|611632|NM_013319|Q9Y5Z9|ENSG00000120942|uc001asg.4|UBIA1_HUMAN||B3KQG3_%7C_Q53GX3_%7C_Q5THD4|Q9Y5Z9|menaquinone_%20_biosynthetic_%20_process_%20_(GO:0009234)_%7C_ubiquinone_%20_biosynthetic_%20_process_%20_(GO:0006744)_%7C_vitamin_%20_K_%20_biosynthetic_%20_process_%20_(GO:0042371)|cytoplasm_%20_(GO:0005737)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_Golgi_%20_membrane_%20_(GO:0030173)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|antioxidant_%20_activity_%20_(GO:0016209)_%7C_prenyltransferase_%20_activity_%20_(GO:0004659)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 11347092 rs3765906 T C . PASS FUNCOTATION=[UBIAD1|hg19|chr1|11347092|11347092|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:11347092T>C|ENST00000376810.5|+|2|||||0.5261845386533666|TCCCCACACCTACCCTCCACC|UBIAD1_ENST00000376804.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471130|NM_013319.2|NP_037451.1|HGNC:30791|UbiA_%20_prenyltransferase_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SCCD|"Schnyder_%20_crystalline_%20_corneal_%20_dystrophy"|TERE1|"transitional_%20_epithelia_%20_response_%20_protein"|1p36.22|2014-11-19|||||29914|ENSG00000120942|20953171_%2C__%20_12497587_%2C__%20_11314041_%2C__%20_17668063_%2C__%20_17962451_%2C__%20_8894705|NM_013319|||CCDS129_%2C__%20_CCDS81260|OTTHUMG00000002075|29914|611632|NM_013319|Q9Y5Z9|ENSG00000120942|uc001asg.4|UBIA1_HUMAN||B3KQG3_%7C_Q53GX3_%7C_Q5THD4|Q9Y5Z9|menaquinone_%20_biosynthetic_%20_process_%20_(GO:0009234)_%7C_ubiquinone_%20_biosynthetic_%20_process_%20_(GO:0006744)_%7C_vitamin_%20_K_%20_biosynthetic_%20_process_%20_(GO:0042371)|cytoplasm_%20_(GO:0005737)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_Golgi_%20_membrane_%20_(GO:0030173)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|antioxidant_%20_activity_%20_(GO:0016209)_%7C_prenyltransferase_%20_activity_%20_(GO:0004659)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 11721854 rs2294641 C T . PASS FUNCOTATION=[FBXO44|hg19|chr1|11721854|11721854|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:11721854C>T|ENST00000251547.5|+|6|||||0.6084788029925187|CTCCCAGTCTCTCGCTCTGCC|FBXO44_ENST00000251546.4_THREE_PRIME_UTR/FBXO44_ENST00000376762.4_THREE_PRIME_UTR/FBXO44_ENST00000376770.1_THREE_PRIME_UTR/FBXO6_ENST00000376753.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR749368|NM_033182.5|NP_149438.2|HGNC:24847|F-box_%20_protein_%20_44|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FBX30_%2C__%20_FBG3_%2C__%20_MGC14140_%2C__%20_Fbxo6a_%2C__%20_Fbx44||1p36.22|2016-10-05|||AY040878||93611|ENSG00000132879|12383498|NM_183412|560|F-boxes_%20_other|CCDS131_%2C__%20_CCDS132_%2C__%20_CCDS81261|OTTHUMG00000002071|93611|609111|NM_001014765|Q9H4M3|ENSG00000132879|uc001asl.3|FBX44_HUMAN||B3KNZ2_%7C_B7Z743_%7C_Q5TGX2_%7C_Q5TGX4_%7C_Q5TGX5_%7C_Q68DJ9_%7C_Q8WWY2|Q9H4M3||SCF_%20_ubiquitin_%20_ligase_%20_complex_%20_(GO:0019005)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 11783484 rs4846029 T G . PASS FUNCOTATION=[DRAXIN|hg19|chr1|11783484|11783484|THREE_PRIME_UTR||SNP|T|T|G|g.chr1:11783484T>G|ENST00000294485.5|+|7|||||0.46633416458852867|CCCTTCCATCTGTAGCAGTGT||||||||||||||||||||||||||||||||||BC111064|NM_198545.3|NP_940947.3|HGNC:25054|dorsal_%20_inhibitory_%20_axon_%20_guidance_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf187|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_187"|FLJ34999_%2C__%20_Draxin_%2C__%20_Neucrin|"dorsal_%20_repulsive_%20_axon_%20_guidance_%20_protein"_%2C__%20_"neural_%20_tissue-specific_%20_cysteine-rich_%20_protein"|1p36.22|2014-11-19|2012-08-14|2012-08-14|AY358750||374946|ENSG00000162490|19150847|NM_198545|||CCDS135|OTTHUMG00000002227|374946|612682|NM_198545|Q8NBI3|ENSG00000162490|uc001ass.4|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 11810151 variant.827 C T . PASS FUNCOTATION=[AGTRAP|hg19|chr1|11810151|11810151|NONSENSE||SNP|C|C|T|g.chr1:11810151C>T|ENST00000314340.5|+|5|436|c.382C>T|c.(382-384)Cag>Tag|p.Q128*|0.5885286783042394|TGGGTCTTCTCAGGACCGTAG|AGTRAP_ENST00000376629.4_NONSENSE_p.Q121*/AGTRAP_ENST00000376637.3_MISSENSE_p.S109L/AGTRAP_ENST00000452018.2_MISSENSE_p.S153L/AGTRAP_ENST00000510878.1_SILENT_p.L92L/AGTRAP_ENST00000376627.2_THREE_PRIME_UTR/AGTRAP_ENST00000400895.2_THREE_PRIME_UTR/AGTRAP_ENST00000491346.1_INTRON|||||||||||||||||||||||AGTRAP{ENST00000314340}:r.1_528_BRAF{ENST00000288602}:r.1201_2480(1)_%7C_AGTRAP{ENST00000314340}:r.1_534_BRAF{ENST00000288602}:r.1201_2480(1)||161|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(61)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(1)|||||||CH471130|NM_020350.4|NP_065083.3|HGNC:13539|angiotensin_%20_II_%20_receptor_%20_associated_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ATRAP||1p36.22|2016-01-12||2016-01-12|AF165187||57085|ENSG00000177674|11733189|NM_020350|||CCDS136_%2C__%20_CCDS30585_%2C__%20_CCDS30586_%2C__%20_CCDS41248_%2C__%20_CCDS44056|OTTHUMG00000002230|57085|608729|NM_001040194|Q6RW13|ENSG00000177674|uc001asv.4|ATRAP_HUMAN||A8MVQ5_%7C_Q5SNV4_%7C_Q5SNV5_%7C_Q96AC0_%7C_Q96PL4_%7C_Q9NRW9|Q6RW13|regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)|cell_%20_cortex_%20_(GO:0005938)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|angiotensin_%20_type_%20_II_%20_receptor_%20_activity_%20_(GO:0004945)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 11810505 rs8617 C T . PASS FUNCOTATION=[AGTRAP|hg19|chr1|11810505|11810505|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:11810505C>T|ENST00000314340.5|+|5|||||0.6184538653366584|CTCTCTTTACCTCCTACCCCA|AGTRAP_ENST00000376629.4_THREE_PRIME_UTR/AGTRAP_ENST00000376637.3_THREE_PRIME_UTR/AGTRAP_ENST00000376627.2_THREE_PRIME_UTR/AGTRAP_ENST00000510878.1_THREE_PRIME_UTR/AGTRAP_ENST00000491346.1_INTRON|||||||||||||||||||||||AGTRAP{ENST00000314340}:r.1_528_BRAF{ENST00000288602}:r.1201_2480(1)_%7C_AGTRAP{ENST00000314340}:r.1_534_BRAF{ENST00000288602}:r.1201_2480(1)||161|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(61)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(1)|||||||CH471130|NM_020350.4|NP_065083.3|HGNC:13539|angiotensin_%20_II_%20_receptor_%20_associated_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ATRAP||1p36.22|2016-01-12||2016-01-12|AF165187||57085|ENSG00000177674|11733189|NM_020350|||CCDS136_%2C__%20_CCDS30585_%2C__%20_CCDS30586_%2C__%20_CCDS41248_%2C__%20_CCDS44056|OTTHUMG00000002230|57085|608729|NM_001040194|Q6RW13|ENSG00000177674|uc001asv.4|ATRAP_HUMAN||A8MVQ5_%7C_Q5SNV4_%7C_Q5SNV5_%7C_Q96AC0_%7C_Q96PL4_%7C_Q9NRW9|Q6RW13|regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)|cell_%20_cortex_%20_(GO:0005938)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|angiotensin_%20_type_%20_II_%20_receptor_%20_activity_%20_(GO:0004945)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 11810674 rs1128059 G A . PASS FUNCOTATION=[AGTRAP|hg19|chr1|11810674|11810674|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:11810674G>A|ENST00000314340.5|+|5|||||0.5910224438902744|GAGCAGTCTGGCATGGGAGTG|AGTRAP_ENST00000376629.4_THREE_PRIME_UTR/AGTRAP_ENST00000376637.3_THREE_PRIME_UTR/AGTRAP_ENST00000510878.1_THREE_PRIME_UTR|||||||||||||||||||||||AGTRAP{ENST00000314340}:r.1_528_BRAF{ENST00000288602}:r.1201_2480(1)_%7C_AGTRAP{ENST00000314340}:r.1_534_BRAF{ENST00000288602}:r.1201_2480(1)||161|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(61)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_skin(31)_%7C_soft_tissue(22)_%7C_stomach(1)|||||||CH471130|NM_020350.4|NP_065083.3|HGNC:13539|angiotensin_%20_II_%20_receptor_%20_associated_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ATRAP||1p36.22|2016-01-12||2016-01-12|AF165187||57085|ENSG00000177674|11733189|NM_020350|||CCDS136_%2C__%20_CCDS30585_%2C__%20_CCDS30586_%2C__%20_CCDS41248_%2C__%20_CCDS44056|OTTHUMG00000002230|57085|608729|NM_001040194|Q6RW13|ENSG00000177674|uc001asv.4|ATRAP_HUMAN||A8MVQ5_%7C_Q5SNV4_%7C_Q5SNV5_%7C_Q96AC0_%7C_Q96PL4_%7C_Q9NRW9|Q6RW13|regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)|cell_%20_cortex_%20_(GO:0005938)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|angiotensin_%20_type_%20_II_%20_receptor_%20_activity_%20_(GO:0004945)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 11846252 rs4846048 G A . PASS FUNCOTATION=[MTHFR|hg19|chr1|11846252|11846252|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:11846252G>A|ENST00000376592.1|-|11|||||0.428927680798005|ACACCAACAAGTGGTGATAAG|C1orf167_ENST00000433342.1_INTRON/MTHFR_ENST00000376583.3_THREE_PRIME_UTR|||||||||||||||||||||||||190|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(61)_%7C_large_intestine(22)_%7C_pancreas(22)_%7C_skin(31)_%7C_soft_tissue(41)|||||||U09806|||HGNC:7436|methylenetetrahydrofolate_%20_reductase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"5_%2C_10-methylenetetrahydrofolate_%20_reductase_%20_(NADPH)"_%2C__%20_"methylenetetrahydrofolate_%20_reductase_%20_(NAD(P)H)"|||1p36.22|2017-03-24||2016-08-10|BC053509|1.5.1.20|4524|ENSG00000177000|7920641|NM_005957|||CCDS137_%2C__%20_CCDS81262|OTTHUMG00000002277|4524|607093|NM_005957|P42898|ENSG00000177000|uc001atc.3|MTHR_HUMAN|Benazepril(DB00542)_%7C_Cyanocobalamin(DB00115)_%7C_Fluorouracil(DB00544)_%7C_Folic_%20_Acid(DB00158)_%7C_L-Methionine(DB00134)_%7C_Menadione(DB00170)_%7C_Methotrexate(DB00563)_%7C_Riboflavin(DB00140)_%7C_Tetrahydrofolic_%20_acid(DB00116)|B2R7A6_%7C_Q5SNW6_%7C_Q5SNW9_%7C_Q7Z6M6_%7C_Q8IU73_%7C_Q9UQR2|P42898|blood_%20_circulation_%20_(GO:0008015)_%7C_cellular_%20_amino_%20_acid_%20_metabolic_%20_process_%20_(GO:0006520)_%7C_folic_%20_acid_%20_metabolic_%20_process_%20_(GO:0046655)_%7C_homocysteine_%20_metabolic_%20_process_%20_(GO:0050667)_%7C_methionine_%20_biosynthetic_%20_process_%20_(GO:0009086)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_response_%20_to_%20_folic_%20_acid_%20_(GO:0051593)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_response_%20_to_%20_interleukin-1_%20_(GO:0070555)_%7C_response_%20_to_%20_vitamin_%20_B2_%20_(GO:0033274)_%7C_S-adenosylmethionine_%20_metabolic_%20_process_%20_(GO:0046500)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_tetrahydrofolate_%20_interconversion_%20_(GO:0035999)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)_%7C_neuron_%20_projection_%20_(GO:0043005)|flavin_%20_adenine_%20_dinucleotide_%20_binding_%20_(GO:0050660)_%7C_methylenetetrahydrofolate_%20_reductase_%20_(NAD(P)H)_%20_activity_%20_(GO:0004489)_%7C_modified_%20_amino_%20_acid_%20_binding_%20_(GO:0072341)_%7C_NADP_%20_binding_%20_(GO:0050661)||||true|false|0.2935_%2C_0.7065|false|false|1||false|true|true|MTHFR:4524_%7C_C1orf167:284498|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|true|false|false|4846048|11846252|false|false|0|true|0|false|0.359949_%2C_0.640051|false|true|false|SNV|true|0x0501288c000517053f000100|1|false|111|rs4846048|] +1 11855351 newrs147750177 C A . PASS FUNCOTATION=[MTHFR|hg19|chr1|11855351|11855351|NONSENSE||SNP|C|C|A|g.chr1:11855351C>A|ENST00000376585.1|-|7|2010|c.958G>T|c.(958-960)Gag>Tag|p.E320*|0.5910224438902744|TCCTTGATCTCCTGTGGCACC|MTHFR_ENST00000376592.1_NONSENSE_p.E279*/MTHFR_ENST00000376590.3_NONSENSE_p.E279*/MTHFR_ENST00000376583.3_NONSENSE_p.E320*|||||||||||||||||||||||||190|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(61)_%7C_large_intestine(22)_%7C_pancreas(22)_%7C_skin(31)_%7C_soft_tissue(41)|||||||U09806|||HGNC:7436|methylenetetrahydrofolate_%20_reductase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"5_%2C_10-methylenetetrahydrofolate_%20_reductase_%20_(NADPH)"_%2C__%20_"methylenetetrahydrofolate_%20_reductase_%20_(NAD(P)H)"|||1p36.22|2017-03-24||2016-08-10|BC053509|1.5.1.20|4524|ENSG00000177000|7920641|NM_005957|||CCDS137_%2C__%20_CCDS81262|OTTHUMG00000002277|4524|607093|NM_005957|P42898|ENSG00000177000|uc001atc.3|MTHR_HUMAN|Benazepril(DB00542)_%7C_Cyanocobalamin(DB00115)_%7C_Fluorouracil(DB00544)_%7C_Folic_%20_Acid(DB00158)_%7C_L-Methionine(DB00134)_%7C_Menadione(DB00170)_%7C_Methotrexate(DB00563)_%7C_Riboflavin(DB00140)_%7C_Tetrahydrofolic_%20_acid(DB00116)|B2R7A6_%7C_Q5SNW6_%7C_Q5SNW9_%7C_Q7Z6M6_%7C_Q8IU73_%7C_Q9UQR2|P42898|blood_%20_circulation_%20_(GO:0008015)_%7C_cellular_%20_amino_%20_acid_%20_metabolic_%20_process_%20_(GO:0006520)_%7C_folic_%20_acid_%20_metabolic_%20_process_%20_(GO:0046655)_%7C_homocysteine_%20_metabolic_%20_process_%20_(GO:0050667)_%7C_methionine_%20_biosynthetic_%20_process_%20_(GO:0009086)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_response_%20_to_%20_folic_%20_acid_%20_(GO:0051593)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_response_%20_to_%20_interleukin-1_%20_(GO:0070555)_%7C_response_%20_to_%20_vitamin_%20_B2_%20_(GO:0033274)_%7C_S-adenosylmethionine_%20_metabolic_%20_process_%20_(GO:0046500)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_tetrahydrofolate_%20_interconversion_%20_(GO:0035999)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)_%7C_neuron_%20_projection_%20_(GO:0043005)|flavin_%20_adenine_%20_dinucleotide_%20_binding_%20_(GO:0050660)_%7C_methylenetetrahydrofolate_%20_reductase_%20_(NAD(P)H)_%20_activity_%20_(GO:0004489)_%7C_modified_%20_amino_%20_acid_%20_binding_%20_(GO:0072341)_%7C_NADP_%20_binding_%20_(GO:0050661)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 11894624 variant.859 G A . PASS FUNCOTATION=[CLCN6|hg19|chr1|11894624|11894624|NONSENSE||SNP|G|G|A|g.chr1:11894624G>A|ENST00000346436.6|+|17|1822|c.1770G>A|c.(1768-1770)tgG>tgA|p.W590*|0.5211970074812967|TTCTGGAATGGGAGACAGAGG|CLCN6_ENST00000376496.3_NONSENSE_p.W590*/CLCN6_ENST00000376487.3_NONSENSE_p.W568*/CLCN6_ENST00000312413.6_THREE_PRIME_UTR|||||||||||||||||||||||CLCN6{ENST00000346436}:r.1_199_BRAF{ENST00000288602}:r.1376_2480(2)||187|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(140)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X99475|NM_001286.3|NP_001277.1|HGNC:2024|chloride_%20_voltage-gated_%20_channel_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"chloride_%20_channel_%20_6"_%2C__%20_"chloride_%20_channel_%2C__%20_voltage-sensitive_%20_6"|CLC-6_%2C__%20_KIAA0046_%2C__%20_ClC-6||1p36.22|2016-02-04||2016-02-04|X83378||1185|ENSG00000011021|8543009|NM_001286|302|Chloride_%20_voltage-gated_%20_channels|CCDS138_%2C__%20_CCDS57972|OTTHUMG00000002299|1185|602726|NM_001256959|P51797|ENSG00000011021|uc001ate.6|CLCN6_HUMAN||A8K1T4_%7C_B4DGT7_%7C_F8W9R3_%7C_O60818_%7C_O60819_%7C_O60820_%7C_O60821_%7C_P78520_%7C_P78521_%7C_Q17R81_%7C_Q5SNW2_%7C_Q5SNW3_%7C_Q5SNX1_%7C_Q5SNX2_%7C_Q5SNX3_%7C_Q99427_%7C_Q99428_%7C_Q99429|P51797|cell_%20_volume_%20_homeostasis_%20_(GO:0006884)_%7C_chloride_%20_transport_%20_(GO:0006821)_%7C_ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_regulation_%20_of_%20_anion_%20_transport_%20_(GO:0044070)_%7C_response_%20_to_%20_mechanical_%20_stimulus_%20_(GO:0009612)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|endosome_%20_membrane_%20_(GO:0010008)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)|antiporter_%20_activity_%20_(GO:0015297)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_voltage-gated_%20_chloride_%20_channel_%20_activity_%20_(GO:0005247)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 11901592 rs198415 T C . PASS FUNCOTATION=[CLCN6|hg19|chr1|11901592|11901592|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:11901592T>C|ENST00000346436.6|+|23|||||0.5860349127182045|TACATGGTATTAGTCCCAGCA|CLCN6_ENST00000312413.6_THREE_PRIME_UTR/NPPA-AS1_ENST00000446542.1_RNA/NPPA-AS1_ENST00000400892.2_FIVE_PRIME_FLANK|||||||||||||||||||||||CLCN6{ENST00000346436}:r.1_199_BRAF{ENST00000288602}:r.1376_2480(2)||187|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(140)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X99475|NM_001286.3|NP_001277.1|HGNC:2024|chloride_%20_voltage-gated_%20_channel_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"chloride_%20_channel_%20_6"_%2C__%20_"chloride_%20_channel_%2C__%20_voltage-sensitive_%20_6"|CLC-6_%2C__%20_KIAA0046_%2C__%20_ClC-6||1p36.22|2016-02-04||2016-02-04|X83378||1185|ENSG00000011021|8543009|NM_001286|302|Chloride_%20_voltage-gated_%20_channels|CCDS138_%2C__%20_CCDS57972|OTTHUMG00000002299|1185|602726|NM_001256959|P51797|ENSG00000011021|uc001ate.6|CLCN6_HUMAN||A8K1T4_%7C_B4DGT7_%7C_F8W9R3_%7C_O60818_%7C_O60819_%7C_O60820_%7C_O60821_%7C_P78520_%7C_P78521_%7C_Q17R81_%7C_Q5SNW2_%7C_Q5SNW3_%7C_Q5SNX1_%7C_Q5SNX2_%7C_Q5SNX3_%7C_Q99427_%7C_Q99428_%7C_Q99429|P51797|cell_%20_volume_%20_homeostasis_%20_(GO:0006884)_%7C_chloride_%20_transport_%20_(GO:0006821)_%7C_ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_regulation_%20_of_%20_anion_%20_transport_%20_(GO:0044070)_%7C_response_%20_to_%20_mechanical_%20_stimulus_%20_(GO:0009612)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|endosome_%20_membrane_%20_(GO:0010008)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)|antiporter_%20_activity_%20_(GO:0015297)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_voltage-gated_%20_chloride_%20_channel_%20_activity_%20_(GO:0005247)||||true|false|0.8381_%2C_0.1619|false|false|1||false|true|false|CLCN6:1185_%7C_NPPA-AS1:100379251|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|198415|11901592|false|false|0|true|0|false|0.760286_%2C_0.239714|false|true|false|SNV|true|0x05010088000515053f000100|1|false|79|rs198415|] +1 11906068 exm15531 A G . PASS FUNCOTATION=[NPPA|hg19|chr1|11906068|11906068|NONSTOP||SNP|A|A|G|g.chr1:11906068A>G|ENST00000376480.3|-|3|553|c.454T>C|c.(454-456)Tga>Cga|p.*152R|0.4937655860349127|TGTTATCTTCAGTACTGCAAA|NPPA_ENST00000376476.1_NONSTOP_p.*102R/NPPA-AS1_ENST00000446542.1_RNA/NPPA-AS1_ENST00000400892.2_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X02558|NM_006172.3|NP_006163.1|HGNC:7939|natriuretic_%20_peptide_%20_A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ANP_%2C__%20_PND|"natriuretic_%20_peptide_%20_precursor_%20_A"|||1p36.22|2017-03-24||2010-11-09|BC005893||4878|ENSG00000175206||NM_006172|542|Endogenous_%20_ligands|CCDS139|OTTHUMG00000002388|4878|108780|NM_006172|P01160|ENSG00000175206|uc001ati.4|ANF_HUMAN||Q13766_%7C_Q5JZE1|P01160|cardiac_%20_muscle_%20_hypertrophy_%20_in_%20_response_%20_to_%20_stress_%20_(GO:0014898)_%7C_cellular_%20_response_%20_to_%20_mechanical_%20_stimulus_%20_(GO:0071260)_%7C_cGMP_%20_biosynthetic_%20_process_%20_(GO:0006182)_%7C_female_%20_pregnancy_%20_(GO:0007565)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_systemic_%20_arterial_%20_blood_%20_pressure_%20_(GO:0003085)_%7C_receptor_%20_guanylyl_%20_cyclase_%20_signaling_%20_pathway_%20_(GO:0007168)_%7C_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_regulation_%20_of_%20_blood_%20_vessel_%20_size_%20_(GO:0050880)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_response_%20_to_%20_insulin_%20_(GO:0032868)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_mast_%20_cell_%20_granule_%20_(GO:0042629)_%7C_nucleus_%20_(GO:0005634)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)|receptor_%20_binding_%20_(GO:0005102)||||true|false|0.8209_%2C_0.1791|false|false|1||false|true|false|NPPA:4878_%7C_NPPA-AS1:100379251|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|5065|11906068|false|false|0|true|0|false|0.737688_%2C_0.262312|true|false|false|SNV|true|0x05013808020515053f000100|1|false|52|rs5065|] +1 11906068 rs5065 A G . PASS FUNCOTATION=[NPPA|hg19|chr1|11906068|11906068|NONSTOP||SNP|A|A|G|g.chr1:11906068A>G|ENST00000376480.3|-|3|553|c.454T>C|c.(454-456)Tga>Cga|p.*152R|0.4937655860349127|TGTTATCTTCAGTACTGCAAA|NPPA_ENST00000376476.1_NONSTOP_p.*102R/NPPA-AS1_ENST00000446542.1_RNA/NPPA-AS1_ENST00000400892.2_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X02558|NM_006172.3|NP_006163.1|HGNC:7939|natriuretic_%20_peptide_%20_A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ANP_%2C__%20_PND|"natriuretic_%20_peptide_%20_precursor_%20_A"|||1p36.22|2017-03-24||2010-11-09|BC005893||4878|ENSG00000175206||NM_006172|542|Endogenous_%20_ligands|CCDS139|OTTHUMG00000002388|4878|108780|NM_006172|P01160|ENSG00000175206|uc001ati.4|ANF_HUMAN||Q13766_%7C_Q5JZE1|P01160|cardiac_%20_muscle_%20_hypertrophy_%20_in_%20_response_%20_to_%20_stress_%20_(GO:0014898)_%7C_cellular_%20_response_%20_to_%20_mechanical_%20_stimulus_%20_(GO:0071260)_%7C_cGMP_%20_biosynthetic_%20_process_%20_(GO:0006182)_%7C_female_%20_pregnancy_%20_(GO:0007565)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_systemic_%20_arterial_%20_blood_%20_pressure_%20_(GO:0003085)_%7C_receptor_%20_guanylyl_%20_cyclase_%20_signaling_%20_pathway_%20_(GO:0007168)_%7C_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_regulation_%20_of_%20_blood_%20_vessel_%20_size_%20_(GO:0050880)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_response_%20_to_%20_insulin_%20_(GO:0032868)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_mast_%20_cell_%20_granule_%20_(GO:0042629)_%7C_nucleus_%20_(GO:0005634)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)|receptor_%20_binding_%20_(GO:0005102)||||true|false|0.8209_%2C_0.1791|false|false|1||false|true|false|NPPA:4878_%7C_NPPA-AS1:100379251|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|5065|11906068|false|false|0|true|0|false|0.737688_%2C_0.262312|true|false|false|SNV|true|0x05013808020515053f000100|1|false|52|rs5065|] +1 12025599 exm15795 C G . PASS FUNCOTATION=[PLOD1|hg19|chr1|12025599|12025599|NONSENSE||SNP|C|C|G|g.chr1:12025599C>G|ENST00000196061.4|+|14|1560|c.1533C>G|c.(1531-1533)taC>taG|p.Y511*|0.6384039900249376|TAGACAGCTACCGCACCACCC|PLOD1_ENST00000376369.3_NONSENSE_p.Y558*|||||||||||||||||||||||||242|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||L06419|NM_000302.3|NP_000293.2|HGNC:9081|procollagen-lysine_%2C_2-oxoglutarate_%20_5-dioxygenase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|LLH_%2C__%20_PLOD|"procollagen-lysine_%20_1_%2C__%20_2-oxoglutarate_%20_5-dioxygenase_%20_(lysine_%20_hydroxylase_%2C__%20_Ehlers-Danlos_%20_syndrome_%20_type_%20_VI)"|LH1|"lysyl_%20_hydroxlase_%20_1"|1p36.22|2016-04-06|2004-12-14|2016-04-06|BC016657|1.14.11.4|5351|ENSG00000083444|1577494|NM_000302|||CCDS142|OTTHUMG00000002393|5351|153454|NM_000302|Q02809|ENSG00000083444|uc001atm.4|PLOD1_HUMAN|Succinic_%20_acid(DB00139)_%7C_Vitamin_%20_C(DB00126)|B4DR87_%7C_Q96AV9_%7C_Q9H132|Q02809|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)_%7C_epidermis_%20_development_%20_(GO:0008544)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_hydroxylysine_%20_biosynthetic_%20_process_%20_(GO:0046947)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|iron_%20_ion_%20_binding_%20_(GO:0005506)_%7C_L-ascorbic_%20_acid_%20_binding_%20_(GO:0031418)_%7C_procollagen-lysine_%20_5-dioxygenase_%20_activity_%20_(GO:0008475)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 12069756 indel.888 CACTT C . PASS FUNCOTATION=[MFN2|hg19|chr1|12069757|12069760|FRAME_SHIFT_DEL||DEL|ACTT|ACTT|-|g.chr1:12069757_12069760delACTT|ENST00000235329.5|+|18|2499_2502|c.2178_2181delACTT|c.(2176-2181)tcacttfs|p.L727fs|0.5693069306930693|TTCTTGACTCACTTCAGAGCAAAG|MFN2_ENST00000444836.1_FRAME_SHIFT_DEL_p.L727fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||D86987|NM_014874.3|NP_055689.1|HGNC:16877|mitofusin_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CPRP1_%2C__%20_KIAA0214_%2C__%20_MARF_%2C__%20_CMT2A2||1p36.22|2017-03-24|||AF036536||9927|ENSG00000116688|12499352_%2C__%20_11181170|NM_014874|||CCDS30587|OTTHUMG00000002392|9927|608507|NM_001127660|O95140|ENSG00000116688|uc009vni.4|MFN2_HUMAN||A8K1B3_%7C_O95572_%7C_Q5JXC3_%7C_Q5JXC4_%7C_Q9H131_%7C_Q9NSX8|O95140|apoptotic_%20_process_%20_(GO:0006915)_%7C_autophagy_%20_(GO:0006914)_%7C_blastocyst_%20_formation_%20_(GO:0001825)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_mitochondrial_%20_fusion_%20_(GO:0008053)_%7C_mitochondrial_%20_membrane_%20_organization_%20_(GO:0007006)_%7C_mitochondrion_%20_localization_%20_(GO:0051646)_%7C_negative_%20_regulation_%20_of_%20_Ras_%20_protein_%20_signal_%20_transduction_%20_(GO:0046580)_%7C_negative_%20_regulation_%20_of_%20_smooth_%20_muscle_%20_cell_%20_proliferation_%20_(GO:0048662)_%7C_protein_%20_localization_%20_to_%20_pre-autophagosomal_%20_structure_%20_(GO:0034497)_%7C_protein_%20_targeting_%20_to_%20_mitochondrion_%20_(GO:0006626)_%7C_response_%20_to_%20_unfolded_%20_protein_%20_(GO:0006986)|cytosol_%20_(GO:0005829)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intrinsic_%20_component_%20_of_%20_mitochondrial_%20_outer_%20_membrane_%20_(GO:0031306)_%7C_microtubule_%20_cytoskeleton_%20_(GO:0015630)_%7C_mitochondrial_%20_outer_%20_membrane_%20_(GO:0005741)_%7C_mitochondrion_%20_(GO:0005739)|GTP_%20_binding_%20_(GO:0005525)_%7C_GTPase_%20_activity_%20_(GO:0003924)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)||||true|false||false|false|||false|false|false|MFN2:9927|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|772270096|12069757|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs772270096|] +1 12082195 exm15947 C A . PASS FUNCOTATION=[MIIP|hg19|chr1|12082195|12082195|NONSENSE||SNP|C|C|A|g.chr1:12082195C>A|ENST00000235332.4|+|3|327|c.158C>A|c.(157-159)tCg>tAg|p.S53*|0.6483790523690773|GAGACTCCATCGACCCCAGAG|MIIP_ENST00000436478.2_NONSENSE_p.S53*/MIIP_ENST00000466860.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||FJ618905|NM_021933.3|NP_068752.2|HGNC:25715|migration_%20_and_%20_invasion_%20_inhibitory_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ12438_%2C__%20_IIp45|"invasion_%20_inhibitory_%20_protein_%20_45"|1p36.22|2014-11-19|||AK022500||60672|ENSG00000116691|15867349_%2C__%20_14617774|NM_021933|||CCDS143|OTTHUMG00000002439|60672|608772|NM_021933|Q5JXC2|ENSG00000116691|uc001ato.3|MIIP_HUMAN||C0KL22_%7C_Q96HU6_%7C_Q9H839_%7C_Q9HA00|Q5JXC2|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 12090140 exm16010 C T . PASS FUNCOTATION=[MIIP|hg19|chr1|12090140|12090140|NONSENSE||SNP|C|C|T|g.chr1:12090140C>T|ENST00000235332.4|+|8|1070|c.901C>T|c.(901-903)Cga>Tga|p.R301*|0.6533665835411472|CATCCACCGGCGAAAGAGCTT|MIIP_ENST00000436478.2_INTRON/MIIP_ENST00000466860.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||FJ618905|NM_021933.3|NP_068752.2|HGNC:25715|migration_%20_and_%20_invasion_%20_inhibitory_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ12438_%2C__%20_IIp45|"invasion_%20_inhibitory_%20_protein_%20_45"|1p36.22|2014-11-19|||AK022500||60672|ENSG00000116691|15867349_%2C__%20_14617774|NM_021933|||CCDS143|OTTHUMG00000002439|60672|608772|NM_021933|Q5JXC2|ENSG00000116691|uc001ato.3|MIIP_HUMAN||C0KL22_%7C_Q96HU6_%7C_Q9H839_%7C_Q9HA00|Q5JXC2|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 12318010 variant.909 T G . PASS FUNCOTATION=[VPS13D|hg19|chr1|12318010|12318010|NONSENSE||SNP|T|T|G|g.chr1:12318010T>G|ENST00000358136.3|+|10|1090|c.960T>G|c.(958-960)taT>taG|p.Y320*|0.4164588528678304|AATGGTGGTATTTTGCTTTGA|VPS13D_ENST00000356315.4_NONSENSE_p.Y320*|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(12)_%7C_oesophagus(5)_%7C_pancreas(22)|||||||BX784396|NM_015378.2|NP_056193.2|HGNC:23595|vacuolar_%20_protein_%20_sorting_%20_13_%20_homolog_%20_D|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"vacuolar_%20_protein_%20_sorting_%20_13D_%20_(yeast)"_%2C__%20_"vacuolar_%20_protein_%20_sorting_%20_13_%20_homolog_%20_D_%20_(S._%20_cerevisiae)"|FLJ10619_%2C__%20_KIAA0453||1p36.22-p36.21|2017-06-08||2016-04-05|AJ608774||55187|ENSG00000048707||NM_015378|||CCDS30588_%2C__%20_CCDS30589|OTTHUMG00000013155|55187|608877|NM_015378|Q5THJ4|ENSG00000048707|uc031tou.2|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 12336193 variant.914 G T . PASS FUNCOTATION=[VPS13D|hg19|chr1|12336193|12336193|NONSENSE||SNP|G|G|T|g.chr1:12336193G>T|ENST00000358136.3|+|19|2678|c.2548G>T|c.(2548-2550)Gag>Tag|p.E850*|0.4239401496259352|ACATGTGGTAGAGAAGTTCAA|VPS13D_ENST00000356315.4_NONSENSE_p.E850*|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(12)_%7C_oesophagus(5)_%7C_pancreas(22)|||||||BX784396|NM_015378.2|NP_056193.2|HGNC:23595|vacuolar_%20_protein_%20_sorting_%20_13_%20_homolog_%20_D|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"vacuolar_%20_protein_%20_sorting_%20_13D_%20_(yeast)"_%2C__%20_"vacuolar_%20_protein_%20_sorting_%20_13_%20_homolog_%20_D_%20_(S._%20_cerevisiae)"|FLJ10619_%2C__%20_KIAA0453||1p36.22-p36.21|2017-06-08||2016-04-05|AJ608774||55187|ENSG00000048707||NM_015378|||CCDS30588_%2C__%20_CCDS30589|OTTHUMG00000013155|55187|608877|NM_015378|Q5THJ4|ENSG00000048707|uc031tou.2|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 12446382 variant.919 C T . PASS FUNCOTATION=[VPS13D|hg19|chr1|12446382|12446382|NONSENSE||SNP|C|C|T|g.chr1:12446382C>T|ENST00000358136.3|+|60|11753|c.11623C>T|c.(11623-11625)Cag>Tag|p.Q3875*|0.3940149625935162|ACTCAGCATACAGGATGTACA|VPS13D_ENST00000356315.4_NONSENSE_p.Q3850*/VPS13D_ENST00000496628.1_INTRON|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(12)_%7C_oesophagus(5)_%7C_pancreas(22)|||||||BX784396|NM_015378.2|NP_056193.2|HGNC:23595|vacuolar_%20_protein_%20_sorting_%20_13_%20_homolog_%20_D|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"vacuolar_%20_protein_%20_sorting_%20_13D_%20_(yeast)"_%2C__%20_"vacuolar_%20_protein_%20_sorting_%20_13_%20_homolog_%20_D_%20_(S._%20_cerevisiae)"|FLJ10619_%2C__%20_KIAA0453||1p36.22-p36.21|2017-06-08||2016-04-05|AJ608774||55187|ENSG00000048707||NM_015378|||CCDS30588_%2C__%20_CCDS30589|OTTHUMG00000013155|55187|608877|NM_015378|Q5THJ4|ENSG00000048707|uc031tou.2|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 12627990 kgp15181256 T C . PASS FUNCOTATION=[DHRS3|hg19|chr1|12627990|12627990|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:12627990T>C|ENST00000376223.2|-|6|||||0.4937655860349127|AACCAGTTTGTGCAAGCTGAG||||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(2)|||||||DQ426869|NM_004753.4|NP_004744.2|HGNC:17693|dehydrogenase/reductase_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dehydrogenase/reductase_%20_(SDR_%20_family)_%20_member_%20_3"|retSDR1_%2C__%20_Rsdr1_%2C__%20_SDR1_%2C__%20_RDH17_%2C__%20_SDR16C1|"short_%20_chain_%20_dehydrogenase/reductase_%20_family_%20_16C_%2C__%20_member_%20_1"|1p36.21|2016-10-05||2016-05-27|AF061741|1.1.1.300|9249|ENSG00000162496|9705317_%2C__%20_12226107_%2C__%20_19027726|NM_004753|743|Short_%20_chain_%20_dehydrogenase/reductase_%20_superfamily|CCDS146|OTTHUMG00000001885|9249|612830|NM_001319225|O75911|ENSG00000162496|uc031tpa.2|DHRS3_HUMAN|Vitamin_%20_A(DB00162)|B2R7F3_%7C_Q5VUY3_%7C_Q6UY38_%7C_Q9BUC8|O75911|bone_%20_morphogenesis_%20_(GO:0060349)_%7C_cardiac_%20_septum_%20_morphogenesis_%20_(GO:0060411)_%7C_negative_%20_regulation_%20_of_%20_retinoic_%20_acid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048387)_%7C_outflow_%20_tract_%20_morphogenesis_%20_(GO:0003151)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_regulation_%20_of_%20_ossification_%20_(GO:0030278)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_retinol_%20_metabolic_%20_process_%20_(GO:0042572)_%7C_visual_%20_perception_%20_(GO:0007601)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_photoreceptor_%20_outer_%20_segment_%20_membrane_%20_(GO:0042622)|electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_NADP-retinol_%20_dehydrogenase_%20_activity_%20_(GO:0052650)_%7C_nucleotide_%20_binding_%20_(GO:0000166)_%7C_retinol_%20_dehydrogenase_%20_activity_%20_(GO:0004745)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 12628067 kgp15637314 A C . PASS FUNCOTATION=[DHRS3|hg19|chr1|12628067|12628067|THREE_PRIME_UTR||SNP|A|A|C|g.chr1:12628067A>C|ENST00000376223.2|-|6|||||0.5112219451371571|TGGTCTATGCACACTGCTGAG||||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(2)|||||||DQ426869|NM_004753.4|NP_004744.2|HGNC:17693|dehydrogenase/reductase_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dehydrogenase/reductase_%20_(SDR_%20_family)_%20_member_%20_3"|retSDR1_%2C__%20_Rsdr1_%2C__%20_SDR1_%2C__%20_RDH17_%2C__%20_SDR16C1|"short_%20_chain_%20_dehydrogenase/reductase_%20_family_%20_16C_%2C__%20_member_%20_1"|1p36.21|2016-10-05||2016-05-27|AF061741|1.1.1.300|9249|ENSG00000162496|9705317_%2C__%20_12226107_%2C__%20_19027726|NM_004753|743|Short_%20_chain_%20_dehydrogenase/reductase_%20_superfamily|CCDS146|OTTHUMG00000001885|9249|612830|NM_001319225|O75911|ENSG00000162496|uc031tpa.2|DHRS3_HUMAN|Vitamin_%20_A(DB00162)|B2R7F3_%7C_Q5VUY3_%7C_Q6UY38_%7C_Q9BUC8|O75911|bone_%20_morphogenesis_%20_(GO:0060349)_%7C_cardiac_%20_septum_%20_morphogenesis_%20_(GO:0060411)_%7C_negative_%20_regulation_%20_of_%20_retinoic_%20_acid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048387)_%7C_outflow_%20_tract_%20_morphogenesis_%20_(GO:0003151)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_regulation_%20_of_%20_ossification_%20_(GO:0030278)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_retinol_%20_metabolic_%20_process_%20_(GO:0042572)_%7C_visual_%20_perception_%20_(GO:0007601)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_photoreceptor_%20_outer_%20_segment_%20_membrane_%20_(GO:0042622)|electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_NADP-retinol_%20_dehydrogenase_%20_activity_%20_(GO:0052650)_%7C_nucleotide_%20_binding_%20_(GO:0000166)_%7C_retinol_%20_dehydrogenase_%20_activity_%20_(GO:0004745)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 12628188 rs4580 T C . PASS FUNCOTATION=[DHRS3|hg19|chr1|12628188|12628188|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:12628188T>C|ENST00000376223.2|-|6|||||0.5511221945137157|GGGTCAGTTATACCCATCAGT||||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(2)|||||||DQ426869|NM_004753.4|NP_004744.2|HGNC:17693|dehydrogenase/reductase_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dehydrogenase/reductase_%20_(SDR_%20_family)_%20_member_%20_3"|retSDR1_%2C__%20_Rsdr1_%2C__%20_SDR1_%2C__%20_RDH17_%2C__%20_SDR16C1|"short_%20_chain_%20_dehydrogenase/reductase_%20_family_%20_16C_%2C__%20_member_%20_1"|1p36.21|2016-10-05||2016-05-27|AF061741|1.1.1.300|9249|ENSG00000162496|9705317_%2C__%20_12226107_%2C__%20_19027726|NM_004753|743|Short_%20_chain_%20_dehydrogenase/reductase_%20_superfamily|CCDS146|OTTHUMG00000001885|9249|612830|NM_001319225|O75911|ENSG00000162496|uc031tpa.2|DHRS3_HUMAN|Vitamin_%20_A(DB00162)|B2R7F3_%7C_Q5VUY3_%7C_Q6UY38_%7C_Q9BUC8|O75911|bone_%20_morphogenesis_%20_(GO:0060349)_%7C_cardiac_%20_septum_%20_morphogenesis_%20_(GO:0060411)_%7C_negative_%20_regulation_%20_of_%20_retinoic_%20_acid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048387)_%7C_outflow_%20_tract_%20_morphogenesis_%20_(GO:0003151)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_regulation_%20_of_%20_ossification_%20_(GO:0030278)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_retinol_%20_metabolic_%20_process_%20_(GO:0042572)_%7C_visual_%20_perception_%20_(GO:0007601)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_photoreceptor_%20_outer_%20_segment_%20_membrane_%20_(GO:0042622)|electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_NADP-retinol_%20_dehydrogenase_%20_activity_%20_(GO:0052650)_%7C_nucleotide_%20_binding_%20_(GO:0000166)_%7C_retinol_%20_dehydrogenase_%20_activity_%20_(GO:0004745)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 12677525 kgp7821980 G A . PASS FUNCOTATION=[DHRS3|hg19|chr1|12677525|12677525|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:12677525G>A|ENST00000376223.2|-|1|||||0.5112219451371571|GTGAGAAAAAGAAAAAAAAAA|DHRS3_ENST00000482265.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(2)|||||||DQ426869|NM_004753.4|NP_004744.2|HGNC:17693|dehydrogenase/reductase_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dehydrogenase/reductase_%20_(SDR_%20_family)_%20_member_%20_3"|retSDR1_%2C__%20_Rsdr1_%2C__%20_SDR1_%2C__%20_RDH17_%2C__%20_SDR16C1|"short_%20_chain_%20_dehydrogenase/reductase_%20_family_%20_16C_%2C__%20_member_%20_1"|1p36.21|2016-10-05||2016-05-27|AF061741|1.1.1.300|9249|ENSG00000162496|9705317_%2C__%20_12226107_%2C__%20_19027726|NM_004753|743|Short_%20_chain_%20_dehydrogenase/reductase_%20_superfamily|CCDS146|OTTHUMG00000001885|9249|612830|NM_001319225|O75911|ENSG00000162496|uc031tpa.2|DHRS3_HUMAN|Vitamin_%20_A(DB00162)|B2R7F3_%7C_Q5VUY3_%7C_Q6UY38_%7C_Q9BUC8|O75911|bone_%20_morphogenesis_%20_(GO:0060349)_%7C_cardiac_%20_septum_%20_morphogenesis_%20_(GO:0060411)_%7C_negative_%20_regulation_%20_of_%20_retinoic_%20_acid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048387)_%7C_outflow_%20_tract_%20_morphogenesis_%20_(GO:0003151)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_regulation_%20_of_%20_ossification_%20_(GO:0030278)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_retinol_%20_metabolic_%20_process_%20_(GO:0042572)_%7C_visual_%20_perception_%20_(GO:0007601)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_photoreceptor_%20_outer_%20_segment_%20_membrane_%20_(GO:0042622)|electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_NADP-retinol_%20_dehydrogenase_%20_activity_%20_(GO:0052650)_%7C_nucleotide_%20_binding_%20_(GO:0000166)_%7C_retinol_%20_dehydrogenase_%20_activity_%20_(GO:0004745)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 12726174 newrs138451476 C T . PASS FUNCOTATION=[AADACL4|hg19|chr1|12726174|12726174|NONSENSE||SNP|C|C|T|g.chr1:12726174C>T|ENST00000376221.1|+|4|652|c.652C>T|c.(652-654)Cag>Tag|p.Q218*|0.5511221945137157|GATCCGGGCTCAGGTTCTGAT||||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AL513016|NM_001013630.1|NP_001013652.1|HGNC:32038|arylacetamide_%20_deacetylase_%20_like_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||OTTHUMG00000001889||1p36.21|2016-05-26||2016-05-26|||343066|ENSG00000204518||NM_001013630|465|Arylacetamide_%20_deacetylase_%20_family|CCDS30590|OTTHUMG00000001889|343066||NM_001013630|Q5VUY2|ENSG00000204518|uc001auf.3|ADCL4_HUMAN|||Q5VUY2||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|carboxylic_%20_ester_%20_hydrolase_%20_activity_%20_(GO:0052689)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 12776218 rs3000860 A C . PASS FUNCOTATION=[AADACL3|hg19|chr1|12776218|12776218|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:12776218A>C|ENST00000359318.5|+|1|||||0.5586034912718204|CAGCAGCCTGAGTGTTCTCAC|AADACL3_ENST00000332530.3_FIVE_PRIME_UTR|||||||||||||||||||||||||22|central_nervous_system(22)|||||||AL513016|NM_001103170.1|NP_001096640.1|HGNC:32037|arylacetamide_%20_deacetylase_%20_like_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||OTTHUMG00000001887||1p36.21|2016-05-26||2016-05-26|||126767|ENSG00000188984||NM_001103170|465|Arylacetamide_%20_deacetylase_%20_family|CCDS41253|OTTHUMG00000001887|126767||NM_001103170|Q5VUY0|ENSG00000188984|uc057ckc.1|ADCL3_HUMAN||B3KXR9_%7C_Q5VUY1|Q5VUY0|||hydrolase_%20_activity_%20_(GO:0016787)||||true|false|0.1436_%2C_0.8564|false|false|1||false|true|true|AADACL3:126767|true|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|3000860|12776218|true|false|0|true|0|false||false|false|true|SNV|true|0x05010040060517053f000100|1|false|101|rs3000860|] +1 12776344 exm16961 A T . PASS FUNCOTATION=[AADACL3|hg19|chr1|12776344|12776344|FIVE_PRIME_UTR||SNP|A|A|T|g.chr1:12776344A>T|ENST00000359318.5|+|1|||||0.5311720698254364|TGCTGTTGACATGGGTGAGTT|AADACL3_ENST00000332530.3_START_CODON_SNP_p.M1L|||||||||||||||||||||||||22|central_nervous_system(22)|||||||AL513016|NM_001103170.1|NP_001096640.1|HGNC:32037|arylacetamide_%20_deacetylase_%20_like_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||OTTHUMG00000001887||1p36.21|2016-05-26||2016-05-26|||126767|ENSG00000188984||NM_001103170|465|Arylacetamide_%20_deacetylase_%20_family|CCDS41253|OTTHUMG00000001887|126767||NM_001103170|Q5VUY0|ENSG00000188984|uc057ckc.1|ADCL3_HUMAN||B3KXR9_%7C_Q5VUY1|Q5VUY0|||hydrolase_%20_activity_%20_(GO:0016787)||||true|false|0.3435_%2C_0.6565|false|false|1||false|true|true|AADACL3:126767|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|3000859|12776344|true|true|0|true|0|true||false|false|false|SNV|true|0x050300000b0517053f000100|1|false|101|rs3000859|] +1 12785415 variant.931 C T . PASS FUNCOTATION=[AADACL3|hg19|chr1|12785415|12785415|NONSENSE||SNP|C|C|T|g.chr1:12785415C>T|ENST00000359318.5|+|4|710|c.505C>T|c.(505-507)Caa>Taa|p.Q169*|0.5187032418952618|TGCCATTCTCCAAGCCCTGGA|AADACL3_ENST00000332530.3_NONSENSE_p.Q99*|||||||||||||||||||||||||22|central_nervous_system(22)|||||||AL513016|NM_001103170.1|NP_001096640.1|HGNC:32037|arylacetamide_%20_deacetylase_%20_like_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||OTTHUMG00000001887||1p36.21|2016-05-26||2016-05-26|||126767|ENSG00000188984||NM_001103170|465|Arylacetamide_%20_deacetylase_%20_family|CCDS41253|OTTHUMG00000001887|126767||NM_001103170|Q5VUY0|ENSG00000188984|uc057ckc.1|ADCL3_HUMAN||B3KXR9_%7C_Q5VUY1|Q5VUY0|||hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|AADACL3:126767|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|371819166|12785415|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000605040402000100|1|false|138|rs371819166|] +1 12785541 indel.932 AT A . PASS FUNCOTATION=[AADACL3|hg19|chr1|12785542|12785542|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:12785542delT|ENST00000359318.5|+|4|836|c.632delT|c.(631-633)atgfs|p.M211fs|0.4912718204488778|GAGGTCATCATGAAAGGTGCC|AADACL3_ENST00000332530.3_FRAME_SHIFT_DEL_p.M141fs|||||||||||||||||||||||||22|central_nervous_system(22)|||||||AL513016|NM_001103170.1|NP_001096640.1|HGNC:32037|arylacetamide_%20_deacetylase_%20_like_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||OTTHUMG00000001887||1p36.21|2016-05-26||2016-05-26|||126767|ENSG00000188984||NM_001103170|465|Arylacetamide_%20_deacetylase_%20_family|CCDS41253|OTTHUMG00000001887|126767||NM_001103170|Q5VUY0|ENSG00000188984|uc057ckc.1|ADCL3_HUMAN||B3KXR9_%7C_Q5VUY1|Q5VUY0|||hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|AADACL3:126767|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|763283137|12785542|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs763283137|] +1 12806478 exm1707180 G T . PASS FUNCOTATION=[C1orf158|hg19|chr1|12806478|12806478|NONSENSE||SNP|G|G|T|g.chr1:12806478G>T|ENST00000288048.5|+|1|316|c.100G>T|c.(100-102)Gag>Tag|p.E34*|0.4513715710723192|TTGGATGGAAGAGAGGAGAAA|C1orf158_ENST00000376210.3_NONSENSE_p.E34*/C1orf158_ENST00000474179.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC029894|NM_152290.2|NP_689503.2|HGNC:28567|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_158|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC35194||1p36.21|2016-09-30|||BX647383||93190|ENSG00000157330|12477932|NM_152290|||CCDS147_%2C__%20_CCDS81264|OTTHUMG00000001888|93190||NM_152290|Q8N1D5|ENSG00000157330|uc001auh.4|CA158_HUMAN||Q5VUY4|Q8N1D5|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 12815677 exm17037 C T . PASS FUNCOTATION=[C1orf158|hg19|chr1|12815677|12815677|NONSENSE||SNP|C|C|T|g.chr1:12815677C>T|ENST00000288048.5|+|2|355|c.139C>T|c.(139-141)Caa>Taa|p.Q47*|0.5211970074812967|CAAGACACCCCAATCCATTTA|C1orf158_ENST00000376210.3_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC029894|NM_152290.2|NP_689503.2|HGNC:28567|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_158|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC35194||1p36.21|2016-09-30|||BX647383||93190|ENSG00000157330|12477932|NM_152290|||CCDS147_%2C__%20_CCDS81264|OTTHUMG00000001888|93190||NM_152290|Q8N1D5|ENSG00000157330|uc001auh.4|CA158_HUMAN||Q5VUY4|Q8N1D5|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 12815677 newrs147495703 C T . PASS FUNCOTATION=[C1orf158|hg19|chr1|12815677|12815677|NONSENSE||SNP|C|C|T|g.chr1:12815677C>T|ENST00000288048.5|+|2|355|c.139C>T|c.(139-141)Caa>Taa|p.Q47*|0.5211970074812967|CAAGACACCCCAATCCATTTA|C1orf158_ENST00000376210.3_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC029894|NM_152290.2|NP_689503.2|HGNC:28567|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_158|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC35194||1p36.21|2016-09-30|||BX647383||93190|ENSG00000157330|12477932|NM_152290|||CCDS147_%2C__%20_CCDS81264|OTTHUMG00000001888|93190||NM_152290|Q8N1D5|ENSG00000157330|uc001auh.4|CA158_HUMAN||Q5VUY4|Q8N1D5|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 12835245 variant.939 C T . PASS FUNCOTATION=[PRAMEF12|hg19|chr1|12835245|12835245|NONSENSE||SNP|C|C|T|g.chr1:12835245C>T|ENST00000357726.4|+|1|262|c.235C>T|c.(235-237)Cga>Tga|p.R79*|0.6059850374064838|AGAGATCTTTCGAGCTGTGCT||||||||||||||||||||||||||24|central_nervous_system(22)_%7C_lung(2)|||||||AL023753|NM_001080830.1|NP_001074299.1|HGNC:22125|PRAME_%20_family_%20_member_%20_12|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||OTTHUMG00000001927||1p36.21|2015-09-10|||||390999|ENSG00000116726||XM_372760|686|PRAME_%20_family|CCDS41254|OTTHUMG00000001927|390999||NM_001080830|O95522|ENSG00000116726|uc001aui.5|PRA12_HUMAN|||O95522|negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045596)_%7C_negative_%20_regulation_%20_of_%20_retinoic_%20_acid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048387)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 12835692 indel.940 GA G . PASS FUNCOTATION=[PRAMEF12|hg19|chr1|12835693|12835693|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:12835693delA|ENST00000357726.4|+|2|321|c.295delA|c.(295-297)aaafs|p.K99fs|0.5311720698254364|CAGGCGGTGGAAACTTCAAGT||||||||||||||||||||||||||24|central_nervous_system(22)_%7C_lung(2)|||||||AL023753|NM_001080830.1|NP_001074299.1|HGNC:22125|PRAME_%20_family_%20_member_%20_12|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||OTTHUMG00000001927||1p36.21|2015-09-10|||||390999|ENSG00000116726||XM_372760|686|PRAME_%20_family|CCDS41254|OTTHUMG00000001927|390999||NM_001080830|O95522|ENSG00000116726|uc001aui.5|PRA12_HUMAN|||O95522|negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045596)_%7C_negative_%20_regulation_%20_of_%20_retinoic_%20_acid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048387)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 12907683 exm17419 G A . PASS FUNCOTATION=[HNRNPCL1|hg19|chr1|12907683|12907683|NONSENSE||SNP|G|G|A|g.chr1:12907683G>A|ENST00000317869.6|-|2|686|c.460C>T|c.(460-462)Cga>Tga|p.R154*|0.46633416458852867|TTGCCCCTTCGTGAGGTGTTT||||||||||||||||||||||||||137|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471130|NM_001146181.1|NP_001139653.1|HGNC:29295|heterogeneous_%20_nuclear_%20_ribonucleoprotein_%20_C-like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HNRPCL1||||1p36.21|2014-11-19|2008-04-18||BC002696||343069|ENSG00000179172||NM_001013631|725|RNA_%20_binding_%20_motif_%20_containing|CCDS30591|OTTHUMG00000001931|343069||NM_001013631|O60812|ENSG00000179172|uc057cki.1|HNRC1_HUMAN||B2RP44|O60812||nucleus_%20_(GO:0005634)_%7C_ribonucleoprotein_%20_complex_%20_(GO:0030529)|nucleotide_%20_binding_%20_(GO:0000166)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 12919041 exm17485 G A . PASS FUNCOTATION=[PRAMEF2|hg19|chr1|12919041|12919041|NONSENSE||SNP|G|G|A|g.chr1:12919041G>A|ENST00000240189.2|+|2|264|c.177G>A|c.(175-177)tgG>tgA|p.W59*|0.5760598503740648|TGCAGGCCTGGCCTTTCACCT||||||||||||||||||||||||||71|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_lung(3)_%7C_pancreas(22)|||||||BC075009|NM_023014.1|NP_075390.1|HGNC:28841|PRAME_%20_family_%20_member_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ43580||1p36.21|2015-09-10|||||65122|ENSG00000120952||NM_023014|686|PRAME_%20_family|CCDS149|OTTHUMG00000001986|65122||NM_023014|O60811|ENSG00000120952|uc001aum.1|PRAM2_HUMAN|||O60811|negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045596)_%7C_negative_%20_regulation_%20_of_%20_retinoic_%20_acid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048387)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 12919891 exm17546 G T . PASS FUNCOTATION=[PRAMEF2|hg19|chr1|12919891|12919891|NONSENSE||SNP|G|G|T|g.chr1:12919891G>T|ENST00000240189.2|+|3|718|c.631G>T|c.(631-633)Gaa>Taa|p.E211*|0.4164588528678304|TGGGGAGCTGGAAATTCACAA||||||||||||||||||||||||||71|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_lung(3)_%7C_pancreas(22)|||||||BC075009|NM_023014.1|NP_075390.1|HGNC:28841|PRAME_%20_family_%20_member_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ43580||1p36.21|2015-09-10|||||65122|ENSG00000120952||NM_023014|686|PRAME_%20_family|CCDS149|OTTHUMG00000001986|65122||NM_023014|O60811|ENSG00000120952|uc001aum.1|PRAM2_HUMAN|||O60811|negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045596)_%7C_negative_%20_regulation_%20_of_%20_retinoic_%20_acid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048387)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 13497777 indel.955 CT C . PASS FUNCOTATION=[PRAMEF16|hg19|chr1|13497778|13497778|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:13497778delT|ENST00000376121.3|+|3|1104|c.1075delT|c.(1075-1077)tgtfs|p.C359fs|0.5236907730673317|GTTAAAGGACTGTCAGATCCA||||||||||||||||||||||||||||||||||AL365443|NM_001045480.1|NP_001038945.1||||||||||||||||||||||||||||||PRA16_HUMAN|||Q5VWM1|negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045596)_%7C_negative_%20_regulation_%20_of_%20_retinoic_%20_acid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048387)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 13801621 rs12043808 A C . PASS FUNCOTATION=[LRRC38|hg19|chr1|13801621|13801621|THREE_PRIME_UTR||SNP|A|A|C|g.chr1:13801621A>C|ENST00000376085.3|-|2|||||0.4713216957605985|GCCACCTTTCATGAGGGCACT||||||||||||||||||||||||||||||||||CH471167|NM_001010847.1|NP_001010847.1|HGNC:27005|leucine_%20_rich_%20_repeat_%20_containing_%20_38|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.21|2015-04-07|||BC016048||126755|ENSG00000162494|22547800||||CCDS53269|OTTHUMG00000007918|126755|615212|NM_001010847|Q5VT99|ENSG00000162494|uc001avb.4|LRC38_HUMAN||Q96B32|Q5VT99|ion_%20_transport_%20_(GO:0006811)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 13840410 psy_rs192577419 T G . PASS FUNCOTATION=[LRRC38|hg19|chr1|13840410|13840410|FIVE_PRIME_UTR||SNP|T|T|G|g.chr1:13840410T>G|ENST00000376085.3|-|1|||||0.6957605985037406|CGAGTGGCCGTCGCCAAAACG|RP4-597A16.2_ENST00000563570.1_RNA|||||||||||||||||||||||||||||||||CH471167|NM_001010847.1|NP_001010847.1|HGNC:27005|leucine_%20_rich_%20_repeat_%20_containing_%20_38|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.21|2015-04-07|||BC016048||126755|ENSG00000162494|22547800||||CCDS53269|OTTHUMG00000007918|126755|615212|NM_001010847|Q5VT99|ENSG00000162494|uc001avb.4|LRC38_HUMAN||Q96B32|Q5VT99|ion_%20_transport_%20_(GO:0006811)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 13842586 exm2264988 A G . PASS FUNCOTATION=[LRRC38|hg19|chr1|13842586|13842586|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:13842586A>G|ENST00000376085.3|-||||||0.3915211970074813|TAACAAACCTATTGAGAAATA|RP4-597A16.2_ENST00000563570.1_RNA|||||||||||||||||||||||||||||||||CH471167|NM_001010847.1|NP_001010847.1|HGNC:27005|leucine_%20_rich_%20_repeat_%20_containing_%20_38|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.21|2015-04-07|||BC016048||126755|ENSG00000162494|22547800||||CCDS53269|OTTHUMG00000007918|126755|615212|NM_001010847|Q5VT99|ENSG00000162494|uc001avb.4|LRC38_HUMAN||Q96B32|Q5VT99|ion_%20_transport_%20_(GO:0006811)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 13842679 psy_rs442493 G A . PASS FUNCOTATION=[LRRC38|hg19|chr1|13842679|13842679|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:13842679G>A|ENST00000376085.3|-||||||0.40399002493765584|CGTGAGGGCCGCATGGGGAAG|RP4-597A16.2_ENST00000563570.1_RNA|||||||||||||||||||||||||||||||||CH471167|NM_001010847.1|NP_001010847.1|HGNC:27005|leucine_%20_rich_%20_repeat_%20_containing_%20_38|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.21|2015-04-07|||BC016048||126755|ENSG00000162494|22547800||||CCDS53269|OTTHUMG00000007918|126755|615212|NM_001010847|Q5VT99|ENSG00000162494|uc001avb.4|LRC38_HUMAN||Q96B32|Q5VT99|ion_%20_transport_%20_(GO:0006811)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 13940884 variant.964 C T . PASS FUNCOTATION=[PDPN|hg19|chr1|13940884|13940884|NONSENSE||SNP|C|C|T|g.chr1:13940884C>T|ENST00000509009.1|+|5|489|c.445C>T|c.(445-447)Cga>Tga|p.R149*|0.4389027431421446|TGTGGTTATGCGAAAAATGTC|PDPN_ENST00000294489.6_NONSENSE_p.R230*/PDPN_ENST00000376057.4_NONSENSE_p.R230*/PDPN_ENST00000376061.4_NONSENSE_p.R112*/PDPN_ENST00000513143.1_NONSENSE_p.R112*/PDPN_ENST00000475043.1_NONSENSE_p.R112*/PDPN_ENST00000487038.1_NONSENSE_p.R112*|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(2)|||||||AL359771|||HGNC:29602|podoplanin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||T1A-2_%2C__%20_Gp38_%2C__%20_aggrus_%2C__%20_GP40_%2C__%20_PA2.26|"lung_%20_type_%20_I_%20_cell_%20_membrane_%20_associated_%20_glycoprotein"|1p36.21|2014-11-19|||AB127958_%2C__%20_AY194238||10630|ENSG00000162493|10393083_%2C__%20_9651190|NM_006474|||CCDS30602_%2C__%20_CCDS41266_%2C__%20_CCDS44060_%2C__%20_CCDS53270|OTTHUMG00000007912|10630|608863|NM_001006624|Q86YL7|ENSG00000162493|uc001avd.4|||||||||||true|false||false|false|||false|false|false|PDPN:10630|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|370056113|13940884|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000605040402000100|1|false|138|rs370056113|] +1 14032007 rs2495060 G A . PASS FUNCOTATION=[PRDM2|hg19|chr1|14032007|14032007|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:14032007G>A|ENST00000235372.7|+|1|||||0.4688279301745636|ATCCTGCACCGTCTACCCTTC|PRDM2_ENST00000376048.5_INTRON/PRDM2_ENST00000311066.5_FIVE_PRIME_UTR|||||||||||||||||||||||||131|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_oesophagus(4)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_soft_tissue(11)_%7C_upper_aerodigestive_tract(1)|||||||U23736|NM_012231.4|NP_036363.2|HGNC:9347|PR/SET_%20_domain_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_2_%2C__%20_with_%20_ZNF_%20_domain"_%2C__%20_"PR_%20_domain_%20_2"|RIZ_%2C__%20_RIZ1_%2C__%20_RIZ2_%2C__%20_KMT8_%2C__%20_MTB-ZF_%2C__%20_HUMHOXY1_%2C__%20_KMT8A|"retinoblastoma_%20_protein-binding_%20_zinc_%20_finger_%20_protein"_%2C__%20_"retinoblastoma_%20_protein-interacting_%20_zinc_%20_finger_%20_protein"_%2C__%20_"MTE-binding_%20_protein"_%2C__%20_"zinc-finger_%20_DNA-binding_%20_protein"_%2C__%20_"GATA-3_%20_binding_%20_protein_%20_G3B"|1p36.21|2016-11-03||2016-07-18|U17838||7799|ENSG00000116731|7538672|NM_012231|487_%7C_1197|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family|CCDS150_%2C__%20_CCDS151_%2C__%20_CCDS30603_%2C__%20_CCDS44061|OTTHUMG00000007917|7799|601196|NM_001007257|Q13029|ENSG00000116731|uc001avi.3|PRDM2_HUMAN||B1AJZ4_%7C_B5MC68_%7C_Q13149_%7C_Q14550_%7C_Q5THJ1_%7C_Q5VUL9|Q13029|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_histone-lysine_%20_N-methyltransferase_%20_activity_%20_(GO:0018024)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.9439_%2C_0.05611|false|false|1||false|true|false|PRDM2:7799|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2495060|14032007|true|false|0|true|0|false|0.91349_%2C_0.0865101|false|false|true|SNV|true|0x050100480005150537000100|1|false|100|rs2495060|] +1 14059374 exm18628 G A . PASS FUNCOTATION=[PRDM2|hg19|chr1|14059374|14059374|NONSENSE||SNP|G|G|A|g.chr1:14059374G>A|ENST00000235372.7|+|4|1084|c.228G>A|c.(226-228)tgG>tgA|p.W76*|0.2743142144638404|TATACATGTGGGAGGTAAGAA|PRDM2_ENST00000376048.5_NONSENSE_p.W76*/PRDM2_ENST00000311066.5_NONSENSE_p.W76*|||||||||||||||||||||||||131|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_oesophagus(4)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_soft_tissue(11)_%7C_upper_aerodigestive_tract(1)|||||||U23736|NM_012231.4|NP_036363.2|HGNC:9347|PR/SET_%20_domain_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_2_%2C__%20_with_%20_ZNF_%20_domain"_%2C__%20_"PR_%20_domain_%20_2"|RIZ_%2C__%20_RIZ1_%2C__%20_RIZ2_%2C__%20_KMT8_%2C__%20_MTB-ZF_%2C__%20_HUMHOXY1_%2C__%20_KMT8A|"retinoblastoma_%20_protein-binding_%20_zinc_%20_finger_%20_protein"_%2C__%20_"retinoblastoma_%20_protein-interacting_%20_zinc_%20_finger_%20_protein"_%2C__%20_"MTE-binding_%20_protein"_%2C__%20_"zinc-finger_%20_DNA-binding_%20_protein"_%2C__%20_"GATA-3_%20_binding_%20_protein_%20_G3B"|1p36.21|2016-11-03||2016-07-18|U17838||7799|ENSG00000116731|7538672|NM_012231|487_%7C_1197|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family|CCDS150_%2C__%20_CCDS151_%2C__%20_CCDS30603_%2C__%20_CCDS44061|OTTHUMG00000007917|7799|601196|NM_001007257|Q13029|ENSG00000116731|uc001avi.3|PRDM2_HUMAN||B1AJZ4_%7C_B5MC68_%7C_Q13149_%7C_Q14550_%7C_Q5THJ1_%7C_Q5VUL9|Q13029|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_histone-lysine_%20_N-methyltransferase_%20_activity_%20_(GO:0018024)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|PRDM2:7799|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|148256671|14059374|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000605040436000100|1|false|134|rs148256671|] +1 14149668 exm18873 T G . PASS FUNCOTATION=[PRDM2|hg19|chr1|14149668|14149668|THREE_PRIME_UTR||SNP|T|T|G|g.chr1:14149668T>G|ENST00000235372.7|+|10|||||0.5112219451371571|TGAAGTGACCTGGAATCAGTG|PRDM2_ENST00000376048.5_MISSENSE_p.W224G/PRDM2_ENST00000503842.1_MISSENSE_p.W60G/PRDM2_ENST00000505823.1_MISSENSE_p.W60G|||||||||||||||||||||||||131|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_oesophagus(4)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_soft_tissue(11)_%7C_upper_aerodigestive_tract(1)|||||||U23736|NM_012231.4|NP_036363.2|HGNC:9347|PR/SET_%20_domain_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_2_%2C__%20_with_%20_ZNF_%20_domain"_%2C__%20_"PR_%20_domain_%20_2"|RIZ_%2C__%20_RIZ1_%2C__%20_RIZ2_%2C__%20_KMT8_%2C__%20_MTB-ZF_%2C__%20_HUMHOXY1_%2C__%20_KMT8A|"retinoblastoma_%20_protein-binding_%20_zinc_%20_finger_%20_protein"_%2C__%20_"retinoblastoma_%20_protein-interacting_%20_zinc_%20_finger_%20_protein"_%2C__%20_"MTE-binding_%20_protein"_%2C__%20_"zinc-finger_%20_DNA-binding_%20_protein"_%2C__%20_"GATA-3_%20_binding_%20_protein_%20_G3B"|1p36.21|2016-11-03||2016-07-18|U17838||7799|ENSG00000116731|7538672|NM_012231|487_%7C_1197|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family|CCDS150_%2C__%20_CCDS151_%2C__%20_CCDS30603_%2C__%20_CCDS44061|OTTHUMG00000007917|7799|601196|NM_001007257|Q13029|ENSG00000116731|uc001avi.3|PRDM2_HUMAN||B1AJZ4_%7C_B5MC68_%7C_Q13149_%7C_Q14550_%7C_Q5THJ1_%7C_Q5VUL9|Q13029|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_histone-lysine_%20_N-methyltransferase_%20_activity_%20_(GO:0018024)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.9964_%2C_0.003594|false|false|1||false|false|false|PRDM2:7799|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|77717345|14149668|false|false|0|true|0|false|0.997287_%2C_0.0027131|false|true|false|SNV|true|0x050100800a05040436000100|1|false|131|rs77717345|] +1 14149672 exm18874 A G . PASS FUNCOTATION=[PRDM2|hg19|chr1|14149672|14149672|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:14149672A>G|ENST00000235372.7|+|10|||||0.513715710723192|GTGACCTGGAATCAGTGAAGC|PRDM2_ENST00000376048.5_MISSENSE_p.N225S/PRDM2_ENST00000503842.1_MISSENSE_p.N61S/PRDM2_ENST00000505823.1_MISSENSE_p.N61S|||||||||||||||||||||||||131|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_oesophagus(4)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_soft_tissue(11)_%7C_upper_aerodigestive_tract(1)|||||||U23736|NM_012231.4|NP_036363.2|HGNC:9347|PR/SET_%20_domain_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_2_%2C__%20_with_%20_ZNF_%20_domain"_%2C__%20_"PR_%20_domain_%20_2"|RIZ_%2C__%20_RIZ1_%2C__%20_RIZ2_%2C__%20_KMT8_%2C__%20_MTB-ZF_%2C__%20_HUMHOXY1_%2C__%20_KMT8A|"retinoblastoma_%20_protein-binding_%20_zinc_%20_finger_%20_protein"_%2C__%20_"retinoblastoma_%20_protein-interacting_%20_zinc_%20_finger_%20_protein"_%2C__%20_"MTE-binding_%20_protein"_%2C__%20_"zinc-finger_%20_DNA-binding_%20_protein"_%2C__%20_"GATA-3_%20_binding_%20_protein_%20_G3B"|1p36.21|2016-11-03||2016-07-18|U17838||7799|ENSG00000116731|7538672|NM_012231|487_%7C_1197|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family|CCDS150_%2C__%20_CCDS151_%2C__%20_CCDS30603_%2C__%20_CCDS44061|OTTHUMG00000007917|7799|601196|NM_001007257|Q13029|ENSG00000116731|uc001avi.3|PRDM2_HUMAN||B1AJZ4_%7C_B5MC68_%7C_Q13149_%7C_Q14550_%7C_Q5THJ1_%7C_Q5VUL9|Q13029|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_histone-lysine_%20_N-methyltransferase_%20_activity_%20_(GO:0018024)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|PRDM2:7799|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|202013308|14149672|false|false|0|false|0|false|0.999244_%2C_0.000755546|false|true|false|SNV|true|0x050000800a05040426000100|1|false|137|rs202013308|] +1 14150709 rs2697964 C T . PASS FUNCOTATION=[PRDM2|hg19|chr1|14150709|14150709|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:14150709C>T|ENST00000235372.7|+|10|||||0.4937655860349127|TGGGGCAGACCCCAGGCAAGG|PRDM2_ENST00000376048.5_THREE_PRIME_UTR|||||||||||||||||||||||||131|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_oesophagus(4)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_soft_tissue(11)_%7C_upper_aerodigestive_tract(1)|||||||U23736|NM_012231.4|NP_036363.2|HGNC:9347|PR/SET_%20_domain_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_2_%2C__%20_with_%20_ZNF_%20_domain"_%2C__%20_"PR_%20_domain_%20_2"|RIZ_%2C__%20_RIZ1_%2C__%20_RIZ2_%2C__%20_KMT8_%2C__%20_MTB-ZF_%2C__%20_HUMHOXY1_%2C__%20_KMT8A|"retinoblastoma_%20_protein-binding_%20_zinc_%20_finger_%20_protein"_%2C__%20_"retinoblastoma_%20_protein-interacting_%20_zinc_%20_finger_%20_protein"_%2C__%20_"MTE-binding_%20_protein"_%2C__%20_"zinc-finger_%20_DNA-binding_%20_protein"_%2C__%20_"GATA-3_%20_binding_%20_protein_%20_G3B"|1p36.21|2016-11-03||2016-07-18|U17838||7799|ENSG00000116731|7538672|NM_012231|487_%7C_1197|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family|CCDS150_%2C__%20_CCDS151_%2C__%20_CCDS30603_%2C__%20_CCDS44061|OTTHUMG00000007917|7799|601196|NM_001007257|Q13029|ENSG00000116731|uc001avi.3|PRDM2_HUMAN||B1AJZ4_%7C_B5MC68_%7C_Q13149_%7C_Q14550_%7C_Q5THJ1_%7C_Q5VUL9|Q13029|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_histone-lysine_%20_N-methyltransferase_%20_activity_%20_(GO:0018024)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.1807_%2C_0.8193|false|false|1||false|true|true|PRDM2:7799|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2697964|14150709|true|false|0|true|0|false|0.152929_%2C_0.847071|false|true|false|SNV|true|0x05010080000517053f000100|1|false|100|rs2697964|] +1 14151506 rs2903 C T . PASS FUNCOTATION=[PRDM2|hg19|chr1|14151506|14151506|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:14151506C>T|ENST00000235372.7|+|10|||||0.516209476309227|GTCTTCAAGACGACAGCTCTG|PRDM2_ENST00000376048.5_THREE_PRIME_UTR|||||||||||||||||||||||||131|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_oesophagus(4)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_soft_tissue(11)_%7C_upper_aerodigestive_tract(1)|||||||U23736|NM_012231.4|NP_036363.2|HGNC:9347|PR/SET_%20_domain_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_2_%2C__%20_with_%20_ZNF_%20_domain"_%2C__%20_"PR_%20_domain_%20_2"|RIZ_%2C__%20_RIZ1_%2C__%20_RIZ2_%2C__%20_KMT8_%2C__%20_MTB-ZF_%2C__%20_HUMHOXY1_%2C__%20_KMT8A|"retinoblastoma_%20_protein-binding_%20_zinc_%20_finger_%20_protein"_%2C__%20_"retinoblastoma_%20_protein-interacting_%20_zinc_%20_finger_%20_protein"_%2C__%20_"MTE-binding_%20_protein"_%2C__%20_"zinc-finger_%20_DNA-binding_%20_protein"_%2C__%20_"GATA-3_%20_binding_%20_protein_%20_G3B"|1p36.21|2016-11-03||2016-07-18|U17838||7799|ENSG00000116731|7538672|NM_012231|487_%7C_1197|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family|CCDS150_%2C__%20_CCDS151_%2C__%20_CCDS30603_%2C__%20_CCDS44061|OTTHUMG00000007917|7799|601196|NM_001007257|Q13029|ENSG00000116731|uc001avi.3|PRDM2_HUMAN||B1AJZ4_%7C_B5MC68_%7C_Q13149_%7C_Q14550_%7C_Q5THJ1_%7C_Q5VUL9|Q13029|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_histone-lysine_%20_N-methyltransferase_%20_activity_%20_(GO:0018024)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.9583_%2C_0.04173|false|false|1||false|true|false|PRDM2:7799|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2903|14151506|true|false|0|true|0|false|0.950065_%2C_0.0499347|false|true|false|SNV|true|0x05010080000515053f000100|1|false|36|rs2903|] +1 14676909 rs7355173 C T . PASS FUNCOTATION=[RP4-704D23.1|hg19|chr1|14676909|14676909|LINCRNA||SNP|C|C|T|g.chr1:14676909C>T|ENST00000447908.1|-|||c.e1-455G>A|||0.46384039900249374|AGCCTGGTTCCTCATTATGGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15442058 rs2235789 T C . PASS FUNCOTATION=[KAZN|hg19|chr1|15442058|15442058|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:15442058T>C|ENST00000376030.2|+|15|||||0.5012468827930174|ATGCTTGACATTGTTAACCCA||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471167|NM_201628.2|NP_963922.2|HGNC:29173|kazrin_%2C__%20_periplakin_%20_interacting_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA1026_%2C__%20_KAZRIN_%2C__%20_FLJ43806||1p36.21|2014-11-19||2011-01-31|AY505119||23254|ENSG00000189337|15337775_%2C__%20_18840647|NM_001017999|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS30604_%2C__%20_CCDS41267_%2C__%20_CCDS152_%2C__%20_CCDS41268|OTTHUMG00000002042|23254||NM_001017999|Q674X7|ENSG00000189337|uc001avm.5|KAZRN_HUMAN||B0QYQ0_%7C_B1AK78_%7C_Q5TGF1_%7C_Q674X4_%7C_Q674X6_%7C_Q6ZUD1_%7C_Q8IYN7_%7C_Q8N409_%7C_Q9UIL2_%7C_Q9UPX4|Q674X7|keratinization_%20_(GO:0031424)|cornified_%20_envelope_%20_(GO:0001533)_%7C_cytoplasm_%20_(GO:0005737)_%7C_desmosome_%20_(GO:0030057)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15444288 rs2235784 C T . PASS FUNCOTATION=[KAZN|hg19|chr1|15444288|15444288|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:15444288C>T|ENST00000376030.2|+|15|||||0.5760598503740648|TTCGAGGCTCCGGAGGGCTCT|TMEM51-AS1_ENST00000310916.3_RNA|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471167|NM_201628.2|NP_963922.2|HGNC:29173|kazrin_%2C__%20_periplakin_%20_interacting_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA1026_%2C__%20_KAZRIN_%2C__%20_FLJ43806||1p36.21|2014-11-19||2011-01-31|AY505119||23254|ENSG00000189337|15337775_%2C__%20_18840647|NM_001017999|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS30604_%2C__%20_CCDS41267_%2C__%20_CCDS152_%2C__%20_CCDS41268|OTTHUMG00000002042|23254||NM_001017999|Q674X7|ENSG00000189337|uc001avm.5|KAZRN_HUMAN||B0QYQ0_%7C_B1AK78_%7C_Q5TGF1_%7C_Q674X4_%7C_Q674X6_%7C_Q6ZUD1_%7C_Q8IYN7_%7C_Q8N409_%7C_Q9UIL2_%7C_Q9UPX4|Q674X7|keratinization_%20_(GO:0031424)|cornified_%20_envelope_%20_(GO:0001533)_%7C_cytoplasm_%20_(GO:0005737)_%7C_desmosome_%20_(GO:0030057)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15446168 rs13375820 G A . PASS FUNCOTATION=[TMEM51-AS1|hg19|chr1|15446168|15446168|RNA||SNP|G|G|A|g.chr1:15446168G>A|ENST00000310916.3|-|||c.e5+768C>T|||0.5311720698254364|CCAGCCAACTGTAGTAAGTCT|||||||||||||||||||||||||||||||||||||HGNC:26301|TMEM51_%20_antisense_%20_RNA_%20_1|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|C1orf126|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_126"|FLJ23703||1p36.21|2014-11-18|2013-12-05|2013-12-05|AK074283||200197|ENSG00000175147||NR_027136||||OTTHUMG00000002043|200197||NR_027136||ENSG00000175147|uc009voh.3|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15466832 rs2206761 C T . PASS FUNCOTATION=[TMEM51-AS1|hg19|chr1|15466832|15466832|RNA||SNP|C|C|T|g.chr1:15466832C>T|ENST00000310916.3|-|||c.e1-11955G>A|||0.5486284289276808|GCTGGCTGGACTCTCCTGCTG|||||||||||||||||||||||||||||||||||||HGNC:26301|TMEM51_%20_antisense_%20_RNA_%20_1|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|C1orf126|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_126"|FLJ23703||1p36.21|2014-11-18|2013-12-05|2013-12-05|AK074283||200197|ENSG00000175147||NR_027136||||OTTHUMG00000002043|200197||NR_027136||ENSG00000175147|uc009voh.3|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15467263 rs6429711 C T . PASS FUNCOTATION=[TMEM51-AS1|hg19|chr1|15467263|15467263|RNA||SNP|C|C|T|g.chr1:15467263C>T|ENST00000310916.3|-|||c.e1-11524G>A|||0.4837905236907731|GGAAGAAAGACGATGAGGGTG|||||||||||||||||||||||||||||||||||||HGNC:26301|TMEM51_%20_antisense_%20_RNA_%20_1|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|C1orf126|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_126"|FLJ23703||1p36.21|2014-11-18|2013-12-05|2013-12-05|AK074283||200197|ENSG00000175147||NR_027136||||OTTHUMG00000002043|200197||NR_027136||ENSG00000175147|uc009voh.3|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15471992 rs761301 T G . PASS FUNCOTATION=[TMEM51-AS1|hg19|chr1|15471992|15471992|RNA||SNP|T|T|G|g.chr1:15471992T>G|ENST00000310916.3|-|||c.e1-6795A>C|||0.4763092269326683|CACTCTAATCTAAAGATCTCA|||||||||||||||||||||||||||||||||||||HGNC:26301|TMEM51_%20_antisense_%20_RNA_%20_1|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|C1orf126|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_126"|FLJ23703||1p36.21|2014-11-18|2013-12-05|2013-12-05|AK074283||200197|ENSG00000175147||NR_027136||||OTTHUMG00000002043|200197||NR_027136||ENSG00000175147|uc009voh.3|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15477865 rs1883761 G A . PASS FUNCOTATION=[TMEM51|hg19|chr1|15477865|15477865|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:15477865G>A|ENST00000376008.2|+||||||0.4713216957605985|ATAAGGAGAGGCATGCTTCCT|TMEM51_ENST00000376014.3_FIVE_PRIME_FLANK/TMEM51_ENST00000400796.3_FIVE_PRIME_FLANK/TMEM51_ENST00000428417.1_FIVE_PRIME_FLANK/TMEM51_ENST00000434578.2_FIVE_PRIME_FLANK/TMEM51-AS1_ENST00000310916.3_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR457120|||HGNC:25488|transmembrane_%20_protein_%20_51|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf72|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_72"|FLJ10199||1p36.21|2014-11-18|2005-05-22|2005-05-22|AK098467||55092|ENSG00000171729|12477932|NM_018022|||CCDS154_%2C__%20_CCDS81266|OTTHUMG00000002046|55092||NM_001136216|Q9NW97|ENSG00000171729|uc010obk.3|TMM51_HUMAN||A8K819|Q9NW97||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15546761 exm2249987 G A . PASS FUNCOTATION=[TMEM51|hg19|chr1|15546761|15546761|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:15546761G>A|ENST00000428417.1|+|3|||||0.4139650872817955|GGCGGCTCTCGCAGAGCCCCT|TMEM51_ENST00000376008.2_THREE_PRIME_UTR/TMEM51_ENST00000376014.3_THREE_PRIME_UTR/TMEM51_ENST00000400796.3_THREE_PRIME_UTR/TMEM51_ENST00000434578.2_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR457120|NM_001136217.1|NP_001129689.1|HGNC:25488|transmembrane_%20_protein_%20_51|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf72|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_72"|FLJ10199||1p36.21|2014-11-18|2005-05-22|2005-05-22|AK098467||55092|ENSG00000171729|12477932|NM_018022|||CCDS154_%2C__%20_CCDS81266|OTTHUMG00000002046|55092||NM_001136216|Q9NW97|ENSG00000171729|uc010obk.3|TMM51_HUMAN||A8K819|Q9NW97||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15701094 variant.986 C T . PASS FUNCOTATION=[FHAD1|hg19|chr1|15701094|15701094|NONSENSE||SNP|C|C|T|g.chr1:15701094C>T|ENST00000375998.4|+|25|3478|c.3478C>T|c.(3478-3480)Cga>Tga|p.R1160*|0.4937655860349127|ACTTCGAGCGCGAATTAAAGA|FHAD1_ENST00000358897.4_NONSENSE_p.R1160*/FHAD1_ENST00000417793.1_NONSENSE_p.R1124*/FHAD1_ENST00000375999.3_NONSENSE_p.R1160*/FHAD1_ENST00000314740.8_NONSENSE_p.R413*/FHAD1_ENST00000471347.1_INTRON|||||||||||||||||||||||||69|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||AL391094|||HGNC:29408|forkhead_%20_associated_%20_phosphopeptide_%20_binding_%20_domain_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"forkhead-associated_%20_(FHA)_%20_phosphopeptide_%20_binding_%20_domain_%20_1"|KIAA1937||1p36.21|2016-06-21||2016-06-21|AK093300||114827|ENSG00000142621|11572484|NM_052929||||OTTHUMG00000002088|114827||NM_052929|B1AJZ9|ENSG00000142621|uc001awb.2|FHAD1_HUMAN||Q0P6F5_%7C_Q8N8D3_%7C_Q8N9T6_%7C_Q8NA05|B1AJZ9|||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|FHAD1:114827|false|true|false|false|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|367730091|15701094|false|false|0|false|0|false|0.999141_%2C_0.000858575|false|false|false|SNV|true|0x050000000605040426000100|1|false|138|rs367730091|] +1 15732793 rs733887 A G . PASS FUNCOTATION=[EFHD2|hg19|chr1|15732793|15732793|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:15732793A>G|ENST00000375980.4|+||||||0.486284289276808|TAAAGGATCAATCGTCTTGGT|RP3-467K16.4_ENST00000427824.1_LINCRNA|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471167|NM_024329.5|NP_077305.2|HGNC:28670|EF-hand_%20_domain_%20_family_%20_member_%20_D2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"EF_%20_hand_%20_domain_%20_containing_%20_2"|MGC4342|"swiprosin-1"|1p36.21|2016-10-05||2015-11-05|BC014923||79180|ENSG00000142634|21244694|NM_024329|863|EF-hand_%20_domain_%20_containing|CCDS155|OTTHUMG00000002254|79180|616450|NM_024329|Q96C19|ENSG00000142634|uc001awh.2|EFHD2_HUMAN||Q5JYW9|Q96C19||membrane_%20_(GO:0016020)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15733394 rs2092324 G A . PASS FUNCOTATION=[EFHD2|hg19|chr1|15733394|15733394|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:15733394G>A|ENST00000375980.4|+||||||0.5187032418952618|CAATTGCCCCGGATGAATATT|RP3-467K16.4_ENST00000427824.1_LINCRNA|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471167|NM_024329.5|NP_077305.2|HGNC:28670|EF-hand_%20_domain_%20_family_%20_member_%20_D2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"EF_%20_hand_%20_domain_%20_containing_%20_2"|MGC4342|"swiprosin-1"|1p36.21|2016-10-05||2015-11-05|BC014923||79180|ENSG00000142634|21244694|NM_024329|863|EF-hand_%20_domain_%20_containing|CCDS155|OTTHUMG00000002254|79180|616450|NM_024329|Q96C19|ENSG00000142634|uc001awh.2|EFHD2_HUMAN||Q5JYW9|Q96C19||membrane_%20_(GO:0016020)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15767020 exm19262 G A . PASS FUNCOTATION=[CTRC|hg19|chr1|15767020|15767020|NONSENSE||SNP|G|G|A|g.chr1:15767020G>A|ENST00000375949.4|+|3|190|c.164G>A|c.(163-165)tGg>tAg|p.W55*|0.6109725685785536|AACGACACGTGGAGGCATACG|CTRC_ENST00000375943.2_INTRON/CTRC_ENST00000483406.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Y13697|NM_007272.2|NP_009203.2|HGNC:2523|chymotrypsin_%20_C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"chymotrypsin_%20_C_%20_(caldecrin)"|CLCR_%2C__%20_ELA4|"elastase_%20_4"_%2C__%20_"caldecrin"|1p36.21|2015-11-30||2015-11-30|BC015118|3.4.21.2|11330|ENSG00000162438|8635596|NM_007272|||CCDS156|OTTHUMG00000002255|11330|601405|NM_007272|Q99895|ENSG00000162438|uc001awi.2|CTRC_HUMAN||A8K082_%7C_O00765_%7C_Q9NUH5|Q99895|proteolysis_%20_(GO:0006508)||peptidase_%20_activity_%20_(GO:0008233)_%7C_serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15813922 exm19463 G A . PASS FUNCOTATION=[CELA2B|hg19|chr1|15813922|15813922|NONSENSE||SNP|G|G|A|g.chr1:15813922G>A|ENST00000375910.3|+|7|807|c.782G>A|c.(781-783)tGg>tAg|p.W261*|0.5935162094763092|TACAACGACTGGATCAATTCG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M16653|NM_015849.2|NP_056933.2|HGNC:29995|chymotrypsin_%20_like_%20_elastase_%20_family_%20_member_%20_2B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"chymotrypsin-like_%20_elastase_%20_family_%2C__%20_member_%20_2B"|RP11-265F14.2_%2C__%20_ELA2B|"pancreatic_%20_elastase_%20_IIB"|1p36.21|2015-11-17||2015-11-17|||51032|ENSG00000215704|3646943_%2C__%20_16327289|NM_015849|||CCDS30605|OTTHUMG00000002259|51032|609444|NM_015849|P08218|ENSG00000215704|uc001awl.3|CEL2B_HUMAN||Q14D16_%7C_Q6ISM5_%7C_Q96QV5|P08218||extracellular_%20_region_%20_(GO:0005576)|serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15844653 exm19536 C A . PASS FUNCOTATION=[CASP9|hg19|chr1|15844653|15844653|NONSENSE||SNP|C|C|A|g.chr1:15844653C>A|ENST00000333868.5|-|2|465|c.370G>T|c.(370-372)Gaa>Taa|p.E124*|0.486284289276808|CTGGGTGTTTCCGGTCTGAGA|CASP9_ENST00000546424.1_NONSENSE_p.E124*/CASP9_ENST00000348549.5_NONSENSE_p.E124*/CASP9_ENST00000375890.4_NONSENSE_p.E41*/CASP9_ENST00000469637.1_INTRON|||||||||||||||||||||||||703|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||U60521|||HGNC:1511|caspase_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"caspase_%20_9_%2C__%20_apoptosis-related_%20_cysteine_%20_protease"_%2C__%20_"caspase_%20_9_%2C__%20_apoptosis-related_%20_cysteine_%20_peptidase"|MCH6_%2C__%20_ICE-LAP6_%2C__%20_APAF-3_%2C__%20_PPP1R56|"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_56"|1p36.21|2016-04-25||2015-11-12|U60521|3.4.22.62|842|ENSG00000132906|8663294_%2C__%20_9390557|NM_032996|959_%7C_694_%7C_468_%7C_1341|Caspase_%20_recruitment_%20_domain_%20_containing_%7C_Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits_%7C_Caspases_%7C_Apoptosome|CCDS158_%2C__%20_CCDS159_%2C__%20_CCDS59995|OTTHUMG00000002256|842|602234|NM_001229|P55211|ENSG00000132906|uc001awn.5|CASP9_HUMAN||B4E1A3_%7C_O95348_%7C_Q53Y70_%7C_Q5JRU9_%7C_Q5UGI1_%7C_Q92852_%7C_Q9BQ62_%7C_Q9UEQ3_%7C_Q9UIJ8|P55211|activation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_by_%20_cytochrome_%20_c_%20_(GO:0008635)_%7C_aging_%20_(GO:0007568)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_dexamethasone_%20_stimulus_%20_(GO:0071549)_%7C_cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glial_%20_cell_%20_apoptotic_%20_process_%20_(GO:0034349)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097193)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_(GO:0008630)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_platelet_%20_formation_%20_(GO:0030220)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_regulation_%20_of_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:2001020)_%7C_response_%20_to_%20_antibiotic_%20_(GO:0046677)_%7C_response_%20_to_%20_cobalt_%20_ion_%20_(GO:0032025)_%7C_response_%20_to_%20_estradiol_%20_(GO:0032355)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)_%7C_signal_%20_transduction_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_(GO:0042770)|apoptosome_%20_(GO:0043293)_%7C_cytosol_%20_(GO:0005829)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|cysteine-type_%20_endopeptidase_%20_activity_%20_(GO:0004197)_%7C_enzyme_%20_activator_%20_activity_%20_(GO:0008047)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_SH3_%20_domain_%20_binding_%20_(GO:0017124)||||true|false||false|false|||false|false|false|CASP9:842|false|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|201216482|15844653|false|false|0|false|0|false||false|false|true|SNV|true|0x050000480605040402000100|1|false|137|rs201216482|] +1 15844755 exm19545 G A . PASS FUNCOTATION=[CASP9|hg19|chr1|15844755|15844755|NONSENSE||SNP|G|G|A|g.chr1:15844755G>A|ENST00000333868.5|-|2|363|c.268C>T|c.(268-270)Cga>Tga|p.R90*|0.513715710723192|CTGTTAGTTCGCAGAAACGAA|CASP9_ENST00000546424.1_NONSENSE_p.R90*/CASP9_ENST00000348549.5_NONSENSE_p.R90*/CASP9_ENST00000375890.4_NONSENSE_p.R7*/CASP9_ENST00000469637.1_INTRON|||||||||||||||||||||||||703|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||U60521|||HGNC:1511|caspase_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"caspase_%20_9_%2C__%20_apoptosis-related_%20_cysteine_%20_protease"_%2C__%20_"caspase_%20_9_%2C__%20_apoptosis-related_%20_cysteine_%20_peptidase"|MCH6_%2C__%20_ICE-LAP6_%2C__%20_APAF-3_%2C__%20_PPP1R56|"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_56"|1p36.21|2016-04-25||2015-11-12|U60521|3.4.22.62|842|ENSG00000132906|8663294_%2C__%20_9390557|NM_032996|959_%7C_694_%7C_468_%7C_1341|Caspase_%20_recruitment_%20_domain_%20_containing_%7C_Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits_%7C_Caspases_%7C_Apoptosome|CCDS158_%2C__%20_CCDS159_%2C__%20_CCDS59995|OTTHUMG00000002256|842|602234|NM_001229|P55211|ENSG00000132906|uc001awn.5|CASP9_HUMAN||B4E1A3_%7C_O95348_%7C_Q53Y70_%7C_Q5JRU9_%7C_Q5UGI1_%7C_Q92852_%7C_Q9BQ62_%7C_Q9UEQ3_%7C_Q9UIJ8|P55211|activation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_by_%20_cytochrome_%20_c_%20_(GO:0008635)_%7C_aging_%20_(GO:0007568)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_dexamethasone_%20_stimulus_%20_(GO:0071549)_%7C_cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glial_%20_cell_%20_apoptotic_%20_process_%20_(GO:0034349)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097193)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_(GO:0008630)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_platelet_%20_formation_%20_(GO:0030220)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_regulation_%20_of_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:2001020)_%7C_response_%20_to_%20_antibiotic_%20_(GO:0046677)_%7C_response_%20_to_%20_cobalt_%20_ion_%20_(GO:0032025)_%7C_response_%20_to_%20_estradiol_%20_(GO:0032355)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)_%7C_signal_%20_transduction_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_(GO:0042770)|apoptosome_%20_(GO:0043293)_%7C_cytosol_%20_(GO:0005829)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|cysteine-type_%20_endopeptidase_%20_activity_%20_(GO:0004197)_%7C_enzyme_%20_activator_%20_activity_%20_(GO:0008047)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_SH3_%20_domain_%20_binding_%20_(GO:0017124)||||true|false||false|false|||false|false|false|CASP9:842|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|144884967|15844755|false|false|0|false|0|false||false|false|true|SNV|true|0x050000400605040402000100|1|false|134|rs144884967|] +1 15863057 variant.1017 C T . PASS FUNCOTATION=[DNAJC16|hg19|chr1|15863057|15863057|NONSENSE||SNP|C|C|T|g.chr1:15863057C>T|ENST00000375847.3|+|4|486|c.322C>T|c.(322-324)Cga>Tga|p.R108*|0.3865336658354115|GCAACAGCAGCGAGAGTATCG|DNAJC16_ENST00000375849.1_NONSENSE_p.R108*/DNAJC16_ENST00000375838.1_NONSENSE_p.R108*|||||||||||||||||||||||||271|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR749567|NM_015291.2|NP_056106.1|HGNC:29157|DnaJ_%20_heat_%20_shock_%20_protein_%20_family_%20_(Hsp40)_%20_member_%20_C16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DnaJ_%20_(Hsp40)_%20_homolog_%2C__%20_subfamily_%20_C_%2C__%20_member_%20_16"|KIAA0962||1p36.21|2016-10-05||2015-11-19|AB023179||23341|ENSG00000116138||NM_015291|584|DNAJ_%20_(HSP40)_%20_heat_%20_shock_%20_proteins|CCDS30606_%2C__%20_CCDS72710|OTTHUMG00000002358|23341||NM_001287811|Q9Y2G8|ENSG00000116138|uc001aws.4|DJC16_HUMAN||Q68D57_%7C_Q86X32_%7C_Q8N5P4|Q9Y2G8|cell_%20_redox_%20_homeostasis_%20_(GO:0045454)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15886024 variant.1019 C T . PASS FUNCOTATION=[DNAJC16|hg19|chr1|15886024|15886024|NONSENSE||SNP|C|C|T|g.chr1:15886024C>T|ENST00000375847.3|+|8|1191|c.1027C>T|c.(1027-1029)Cga>Tga|p.R343*|0.4164588528678304|TCTCTAGGCCCGAGGTATGAA|DNAJC16_ENST00000375849.1_NONSENSE_p.R343*/DNAJC16_ENST00000375838.1_NONSENSE_p.R343*/DNAJC16_ENST00000483270.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||271|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR749567|NM_015291.2|NP_056106.1|HGNC:29157|DnaJ_%20_heat_%20_shock_%20_protein_%20_family_%20_(Hsp40)_%20_member_%20_C16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DnaJ_%20_(Hsp40)_%20_homolog_%2C__%20_subfamily_%20_C_%2C__%20_member_%20_16"|KIAA0962||1p36.21|2016-10-05||2015-11-19|AB023179||23341|ENSG00000116138||NM_015291|584|DNAJ_%20_(HSP40)_%20_heat_%20_shock_%20_proteins|CCDS30606_%2C__%20_CCDS72710|OTTHUMG00000002358|23341||NM_001287811|Q9Y2G8|ENSG00000116138|uc001aws.4|DJC16_HUMAN||Q68D57_%7C_Q86X32_%7C_Q8N5P4|Q9Y2G8|cell_%20_redox_%20_homeostasis_%20_(GO:0045454)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15886141 newrs148404423 C T . PASS FUNCOTATION=[DNAJC16|hg19|chr1|15886141|15886141|NONSENSE||SNP|C|C|T|g.chr1:15886141C>T|ENST00000375847.3|+|8|1308|c.1144C>T|c.(1144-1146)Cga>Tga|p.R382*|0.4488778054862843|ACGGTCGCATCGACAGAGGAA|DNAJC16_ENST00000375849.1_NONSENSE_p.R382*/DNAJC16_ENST00000375838.1_NONSENSE_p.R382*/DNAJC16_ENST00000483270.1_INTRON|||||||||||||||||||||||||271|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR749567|NM_015291.2|NP_056106.1|HGNC:29157|DnaJ_%20_heat_%20_shock_%20_protein_%20_family_%20_(Hsp40)_%20_member_%20_C16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DnaJ_%20_(Hsp40)_%20_homolog_%2C__%20_subfamily_%20_C_%2C__%20_member_%20_16"|KIAA0962||1p36.21|2016-10-05||2015-11-19|AB023179||23341|ENSG00000116138||NM_015291|584|DNAJ_%20_(HSP40)_%20_heat_%20_shock_%20_proteins|CCDS30606_%2C__%20_CCDS72710|OTTHUMG00000002358|23341||NM_001287811|Q9Y2G8|ENSG00000116138|uc001aws.4|DJC16_HUMAN||Q68D57_%7C_Q86X32_%7C_Q8N5P4|Q9Y2G8|cell_%20_redox_%20_homeostasis_%20_(GO:0045454)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15909881 indel.1029 AG A . PASS FUNCOTATION=[AGMAT|hg19|chr1|15909882|15909882|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:15909882delG|ENST00000375826.3|-|2|425|c.281delC|c.(280-282)cctfs|p.P94fs|0.5286783042394015|GATGCGGCGAGGTCCGAATCT|DNAJC16_ENST00000483270.1_INTRON|NSCLC(126_%3B_1678_%20_1780_%20_25805_%20_43508_%20_49531)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC005090|NM_024758.4|NP_079034.3|HGNC:18407|agmatinase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"agmatine_%20_ureohydrolase_%20_(agmatinase)"|FLJ23384||1p36.21|2016-10-05||2015-11-03|AY057097|3.5.3.11|79814|ENSG00000116771|11804860_%2C__%20_14648699_%2C__%20_11914032|NM_024758|||CCDS160|OTTHUMG00000002357|79814||NM_024758|Q9BSE5|ENSG00000116771|uc001awv.3|SPEB_HUMAN||Q5TDH1_%7C_Q9H5J3|Q9BSE5|agmatine_%20_biosynthetic_%20_process_%20_(GO:0097055)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_polyamine_%20_metabolic_%20_process_%20_(GO:0006595)_%7C_putrescine_%20_biosynthetic_%20_process_%20_from_%20_arginine_%20_(GO:0033388)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_spermidine_%20_biosynthetic_%20_process_%20_(GO:0008295)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)|agmatinase_%20_activity_%20_(GO:0008783)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15986922 newrs138928687 C T . PASS FUNCOTATION=[RSC1A1|hg19|chr1|15986922|15986922|NONSENSE||SNP|C|C|T|g.chr1:15986922C>T|ENST00000345034.1|+|1|559|c.559C>T|c.(559-561)Caa>Taa|p.Q187*|0.41895261845386533|TTCACATGACCAAGAATATCT|DDI2_ENST00000480945.1_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X82877|NM_006511.1|NP_006502.1|HGNC:10458|regulator_%20_of_%20_solute_%20_carriers_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"regulatory_%20_solute_%20_carrier_%20_protein_%2C__%20_family_%20_1_%2C__%20_member_%20_1"|RS1||1p36.21|2016-10-05||2016-09-29|BN000122_%2C__%20_X82877||6248|ENSG00000215695||NM_006511|||CCDS161|OTTHUMG00000067830|6248|601966|NM_006511|Q92681|ENSG00000215695|uc010obn.2|RSCA1_HUMAN||B2RBP5|Q92681|intestinal_%20_absorption_%20_(GO:0050892)_%7C_negative_%20_regulation_%20_of_%20_transport_%20_(GO:0051051)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transport_%20_(GO:0006810)|brush_%20_border_%20_(GO:0005903)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ion_%20_channel_%20_inhibitor_%20_activity_%20_(GO:0008200)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15987390 variant.1034 G T . PASS FUNCOTATION=[RSC1A1|hg19|chr1|15987390|15987390|NONSENSE||SNP|G|G|T|g.chr1:15987390G>T|ENST00000345034.1|+|1|1027|c.1027G>T|c.(1027-1029)Gag>Tag|p.E343*|0.4014962593516209|GCCTTCTGTGGAGTCAGCAGA|DDI2_ENST00000480945.1_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X82877|NM_006511.1|NP_006502.1|HGNC:10458|regulator_%20_of_%20_solute_%20_carriers_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"regulatory_%20_solute_%20_carrier_%20_protein_%2C__%20_family_%20_1_%2C__%20_member_%20_1"|RS1||1p36.21|2016-10-05||2016-09-29|BN000122_%2C__%20_X82877||6248|ENSG00000215695||NM_006511|||CCDS161|OTTHUMG00000067830|6248|601966|NM_006511|Q92681|ENSG00000215695|uc010obn.2|RSCA1_HUMAN||B2RBP5|Q92681|intestinal_%20_absorption_%20_(GO:0050892)_%7C_negative_%20_regulation_%20_of_%20_transport_%20_(GO:0051051)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transport_%20_(GO:0006810)|brush_%20_border_%20_(GO:0005903)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ion_%20_channel_%20_inhibitor_%20_activity_%20_(GO:0008200)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15987735 exm19842 G T . PASS FUNCOTATION=[RSC1A1|hg19|chr1|15987735|15987735|NONSENSE||SNP|G|G|T|g.chr1:15987735G>T|ENST00000345034.1|+|1|1372|c.1372G>T|c.(1372-1374)Gaa>Taa|p.E458*|0.40648379052369077|AACCGATAAGGAAGGTGTCCC|DDI2_ENST00000480945.1_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X82877|NM_006511.1|NP_006502.1|HGNC:10458|regulator_%20_of_%20_solute_%20_carriers_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"regulatory_%20_solute_%20_carrier_%20_protein_%2C__%20_family_%20_1_%2C__%20_member_%20_1"|RS1||1p36.21|2016-10-05||2016-09-29|BN000122_%2C__%20_X82877||6248|ENSG00000215695||NM_006511|||CCDS161|OTTHUMG00000067830|6248|601966|NM_006511|Q92681|ENSG00000215695|uc010obn.2|RSCA1_HUMAN||B2RBP5|Q92681|intestinal_%20_absorption_%20_(GO:0050892)_%7C_negative_%20_regulation_%20_of_%20_transport_%20_(GO:0051051)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transport_%20_(GO:0006810)|brush_%20_border_%20_(GO:0005903)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ion_%20_channel_%20_inhibitor_%20_activity_%20_(GO:0008200)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15987735 newrs137912259 G T . PASS FUNCOTATION=[RSC1A1|hg19|chr1|15987735|15987735|NONSENSE||SNP|G|G|T|g.chr1:15987735G>T|ENST00000345034.1|+|1|1372|c.1372G>T|c.(1372-1374)Gaa>Taa|p.E458*|0.40648379052369077|AACCGATAAGGAAGGTGTCCC|DDI2_ENST00000480945.1_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X82877|NM_006511.1|NP_006502.1|HGNC:10458|regulator_%20_of_%20_solute_%20_carriers_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"regulatory_%20_solute_%20_carrier_%20_protein_%2C__%20_family_%20_1_%2C__%20_member_%20_1"|RS1||1p36.21|2016-10-05||2016-09-29|BN000122_%2C__%20_X82877||6248|ENSG00000215695||NM_006511|||CCDS161|OTTHUMG00000067830|6248|601966|NM_006511|Q92681|ENSG00000215695|uc010obn.2|RSCA1_HUMAN||B2RBP5|Q92681|intestinal_%20_absorption_%20_(GO:0050892)_%7C_negative_%20_regulation_%20_of_%20_transport_%20_(GO:0051051)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transport_%20_(GO:0006810)|brush_%20_border_%20_(GO:0005903)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ion_%20_channel_%20_inhibitor_%20_activity_%20_(GO:0008200)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15987834 indel.1039 GA G . PASS FUNCOTATION=[RSC1A1|hg19|chr1|15987835|15987835|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:15987835delA|ENST00000345034.1|+|1|1471|c.1472delA|c.(1471-1473)gaafs|p.I492fs|0.41895261845386533|TTAGGTGTAGAAATTTCACCC|DDI2_ENST00000480945.1_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X82877|NM_006511.1|NP_006502.1|HGNC:10458|regulator_%20_of_%20_solute_%20_carriers_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"regulatory_%20_solute_%20_carrier_%20_protein_%2C__%20_family_%20_1_%2C__%20_member_%20_1"|RS1||1p36.21|2016-10-05||2016-09-29|BN000122_%2C__%20_X82877||6248|ENSG00000215695||NM_006511|||CCDS161|OTTHUMG00000067830|6248|601966|NM_006511|Q92681|ENSG00000215695|uc010obn.2|RSCA1_HUMAN||B2RBP5|Q92681|intestinal_%20_absorption_%20_(GO:0050892)_%7C_negative_%20_regulation_%20_of_%20_transport_%20_(GO:0051051)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transport_%20_(GO:0006810)|brush_%20_border_%20_(GO:0005903)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ion_%20_channel_%20_inhibitor_%20_activity_%20_(GO:0008200)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15993338 rs10492987 A G . PASS FUNCOTATION=[DDI2|hg19|chr1|15993338|15993338|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:15993338A>G|ENST00000480945.1|+|10|||||0.4463840399002494|ACCTGGTTCCACTTCAGAGCA||||||||||||||||||||||||||149|breast(11)_%7C_central_nervous_system(22)_%7C_haematopoietic_and_lymphoid_tissue(104)_%7C_large_intestine(11)_%7C_lung(1)|||||||CH471167|NM_032341.4|NP_115717.3|HGNC:24578|DNA_%20_damage_%20_inducible_%20_1_%20_homolog_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DDI1_%2C__%20_DNA-damage_%20_inducible_%20_1_%2C__%20_homolog_%20_2_%20_(S._%20_cerevisiae)"_%2C__%20_"DNA-damage_%20_inducible_%20_1_%20_homolog_%20_2_%20_(S._%20_cerevisiae)"_%2C__%20_"DNA-damage_%20_inducible_%20_1_%20_homolog_%20_2"|MGC14844||1p36.21|2016-10-05||2015-11-16|||84301|ENSG00000197312||NM_032341|||CCDS30607|OTTHUMG00000002381|84301||NM_032341|Q5TDH0|ENSG00000197312|uc001awz.4|DDI2_HUMAN||A8KAE1_%7C_Q7RTZ0_%7C_Q9BRT1|Q5TDH0|||aspartic-type_%20_endopeptidase_%20_activity_%20_(GO:0004190)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 16054617 variant.1044 C T . PASS FUNCOTATION=[PLEKHM2|hg19|chr1|16054617|16054617|NONSENSE||SNP|C|C|T|g.chr1:16054617C>T|ENST00000375799.3|+|10|2031|c.1804C>T|c.(1804-1806)Cga>Tga|p.R602*|0.6159600997506235|CCACGTGTTCCGAGAAAACGA|PLEKHM2_ENST00000375793.2_NONSENSE_p.R582*/RP11-288I21.1_ENST00000453804.1_RNA/PLEKHM2_ENST00000477849.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||22|central_nervous_system(22)|||||||CH471167|NM_015164.2|NP_055979.2|HGNC:29131|pleckstrin_%20_homology_%20_and_%20_RUN_%20_domain_%20_containing_%20_M2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_M_%20_(with_%20_RUN_%20_domain)_%20_member_%20_2"|KIAA0842||1p36.21|2016-10-05||2015-11-18|AB020649||23207|ENSG00000116786|10048485|NM_015164|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS44063|OTTHUMG00000003062|23207|609613|NM_015164|Q8IWE5|ENSG00000116786|uc010obo.2|PKHM2_HUMAN||O94928_%7C_Q5VT65_%7C_Q6NUH9_%7C_Q7L8G1_%7C_Q8IVT7_%7C_Q8N2T4_%7C_Q96AY0_%7C_Q9NTF7|Q8IWE5|Golgi_%20_organization_%20_(GO:0007030)|cytoplasm_%20_(GO:0005737)|kinesin_%20_binding_%20_(GO:0019894)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 16067904 rs7516080 T C . PASS FUNCOTATION=[TMEM82|hg19|chr1|16067904|16067904|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:16067904T>C|ENST00000375782.1|+||||||0.6084788029925187|TCCTCTGTGGTGAATCTCAGT|RP11-169K16.4_ENST00000418525.1_RNA/RP11-288I21.1_ENST00000453804.1_FIVE_PRIME_FLANK/TMEM82_ENST00000465575.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC137240|NM_001013641.2|NP_001013663.1|HGNC:32350|transmembrane_%20_protein_%20_82|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.21|2015-10-23|||||388595|ENSG00000162460||NM_001013641|||CCDS30608|OTTHUMG00000003065|388595||NM_001013641|A0PJX8|ENSG00000162460|uc001axc.5|TMM82_HUMAN||B2RP27_%7C_Q5VVD4|A0PJX8||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 16068364 rs35365738 G A . PASS FUNCOTATION=[TMEM82|hg19|chr1|16068364|16068364|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:16068364G>A|ENST00000375782.1|+||||||0.5486284289276808|GACAGATGGAGCCTGGGACTT|RP11-169K16.4_ENST00000418525.1_RNA/RP11-288I21.1_ENST00000453804.1_FIVE_PRIME_FLANK/TMEM82_ENST00000465575.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC137240|NM_001013641.2|NP_001013663.1|HGNC:32350|transmembrane_%20_protein_%20_82|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.21|2015-10-23|||||388595|ENSG00000162460||NM_001013641|||CCDS30608|OTTHUMG00000003065|388595||NM_001013641|A0PJX8|ENSG00000162460|uc001axc.5|TMM82_HUMAN||B2RP27_%7C_Q5VVD4|A0PJX8||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 16070922 exm20137 C T . PASS FUNCOTATION=[TMEM82|hg19|chr1|16070922|16070922|NONSENSE||SNP|C|C|T|g.chr1:16070922C>T|ENST00000375782.1|+|4|742|c.604C>T|c.(604-606)Cag>Tag|p.Q202*|0.6733167082294265|TGGCCTCCCCCAGCTGCTGGG|RP11-169K16.4_ENST00000418525.1_RNA/TMEM82_ENST00000465575.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC137240|NM_001013641.2|NP_001013663.1|HGNC:32350|transmembrane_%20_protein_%20_82|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.21|2015-10-23|||||388595|ENSG00000162460||NM_001013641|||CCDS30608|OTTHUMG00000003065|388595||NM_001013641|A0PJX8|ENSG00000162460|uc001axc.5|TMM82_HUMAN||B2RP27_%7C_Q5VVD4|A0PJX8||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 16096939 exm20219 C T . PASS FUNCOTATION=[FBLIM1|hg19|chr1|16096939|16096939|NONSENSE||SNP|C|C|T|g.chr1:16096939C>T|ENST00000375766.3|+|6|1217|c.577C>T|c.(577-579)Cga>Tga|p.R193*|0.5760598503740648|CGTGTCCCCCCGAGAGCTGGC|FBLIM1_ENST00000375771.1_NONSENSE_p.R193*/FBLIM1_ENST00000441801.2_NONSENSE_p.R193*/FBLIM1_ENST00000332305.5_NONSENSE_p.R96*/FBLIM1_ENST00000400773.1_NONSENSE_p.R96*|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC019895|NM_017556.2|NP_060026.2|HGNC:24686|filamin_%20_binding_%20_LIM_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FBLP-1_%2C__%20_CAL_%2C__%20_migfilin||1p36.21|2016-10-05|||||54751|ENSG00000162458|12679033_%2C__%20_12496242|NM_001024215|1218|LIM_%20_domain_%20_containing|CCDS163_%2C__%20_CCDS30609_%2C__%20_CCDS44064|OTTHUMG00000003079|54751|607747|NM_001024215|Q8WUP2|ENSG00000162458|uc001axd.2|FBLI1_HUMAN||B3KNY0_%7C_Q5VVE0_%7C_Q5VVE1_%7C_Q8IX23_%7C_Q96T00_%7C_Q9UFD6|Q8WUP2|cell_%20_junction_%20_assembly_%20_(GO:0034329)_%7C_regulation_%20_of_%20_cell_%20_shape_%20_(GO:0008360)_%7C_regulation_%20_of_%20_integrin_%20_activation_%20_(GO:0033623)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)|cytosol_%20_(GO:0005829)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_stress_%20_fiber_%20_(GO:0001725)|filamin_%20_binding_%20_(GO:0031005)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 16161836 rs4661661 T C . PASS FUNCOTATION=[RP11-169K16.9|hg19|chr1|16161836|16161836|RNA||SNP|T|T|C|g.chr1:16161836T>C|ENST00000317122.1|-|||c.e2+862A>G|||0.6159600997506235|AAAGTGAAGATGGGTGGTGAA|RP11-169K16.9_ENST00000535249.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 16255007 exm20355 C T . PASS FUNCOTATION=[SPEN|hg19|chr1|16255007|16255007|NONSENSE||SNP|C|C|T|g.chr1:16255007C>T|ENST00000375759.3|+|11|2476|c.2272C>T|c.(2272-2274)Cga>Tga|p.R758*|0.47880299251870323|GCTTTACAGCCGATCCTCAGA||||||||||||||||||||||||||1370|NS(200)_%7C_biliary_tract(2)_%7C_breast(210)_%7C_central_nervous_system(44)_%7C_endometrium(2)_%7C_haematopoietic_and_lymphoid_tissue(302)_%7C_kidney(141)_%7C_large_intestine(37)_%7C_lung(100)_%7C_oesophagus(13)_%7C_ovary(2)_%7C_pancreas(22)_%7C_prostate(26)_%7C_salivary_gland(212)_%7C_skin(1)_%7C_soft_tissue(8)_%7C_stomach(47)_%7C_upper_aerodigestive_tract(1)|||||||AL450998|NM_015001.2|NP_055816.2|HGNC:17575|spen_%20_family_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"SPEN_%20_homolog_%2C__%20_transcriptional_%20_regulator_%20_(Drosophila)"_%2C__%20_"spen_%20_homolog_%2C__%20_transcriptional_%20_regulator_%20_(Drosophila)"|KIAA0929_%2C__%20_MINT_%2C__%20_SHARP_%2C__%20_RBM15C||1p36.21-p36.13|2017-06-08||2013-10-17|||23013|ENSG00000065526|10451362_%2C__%20_11331609|NM_015001|725|RNA_%20_binding_%20_motif_%20_containing|CCDS164|OTTHUMG00000009376|23013|613484|NM_015001|Q96T58|ENSG00000065526|uc001axk.2|MINT_HUMAN||Q9H9A8_%7C_Q9NWH5_%7C_Q9UQ01_%7C_Q9Y556|Q96T58|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_positive_%20_regulation_%20_of_%20_neurogenesis_%20_(GO:0050769)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_viral_%20_process_%20_(GO:0016032)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleus_%20_(GO:0005634)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|nucleotide_%20_binding_%20_(GO:0000166)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_RNA_%20_polymerase_%20_II_%20_transcription_%20_factor_%20_binding_%20_(GO:0001085)_%7C_RNA_%20_polymerase_%20_II_%20_transcription_%20_factor_%20_binding_%20_transcription_%20_factor_%20_activity_%20_involved_%20_in_%20_negative_%20_regulation_%20_of_%20_transcription_%20_(GO:0001191)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_single-stranded_%20_DNA_%20_binding_%20_(GO:0003697)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|SPEN:23013|false|true|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|72649638|16255007|false|false|0|false|0|false||false|false|false|SNV|false|0x05000000060500041e000100|1|false|130|rs72649638|] +1 16341354 rs1048245 T G . PASS FUNCOTATION=[HSPB7|hg19|chr1|16341354|16341354|THREE_PRIME_UTR||SNP|T|T|G|g.chr1:16341354T>G|ENST00000375718.4|-|4|||||0.6109725685785536|CCAACCCCACTTGGCCTTGCC|HSPB7_ENST00000311890.9_THREE_PRIME_UTR/HSPB7_ENST00000411503.1_THREE_PRIME_UTR/CLCNKA_ENST00000464764.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471167|||HGNC:5249|heat_%20_shock_%20_protein_%20_family_%20_B_%20_(small)_%20_member_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"heat_%20_shock_%20_27kD_%20_protein_%20_family_%2C__%20_member_%20_7_%20_(cardiovascular)"_%2C__%20_"heat_%20_shock_%20_27kDa_%20_protein_%20_family_%2C__%20_member_%20_7_%20_(cardiovascular)"|cvHSP||1p36.13|2015-11-23||2015-11-19|AF155908||27129|ENSG00000173641|10593960|NM_014424|585|Small_%20_heat_%20_shock_%20_proteins|CCDS30611|OTTHUMG00000009531|27129|610692|NM_014424|Q9UBY9|ENSG00000173641|uc001axo.2|HSPB7_HUMAN||B3KQ37_%7C_C9K0Y0_%7C_Q9NU17|Q9UBY9|regulation_%20_of_%20_heart_%20_contraction_%20_(GO:0008016)_%7C_response_%20_to_%20_unfolded_%20_protein_%20_(GO:0006986)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cytoplasm_%20_(GO:0005737)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|protein_%20_C-terminus_%20_binding_%20_(GO:0008022)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 16348412 rs945425 T C . PASS FUNCOTATION=[CLCNKA|hg19|chr1|16348412|16348412|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:16348412T>C|ENST00000375692.1|+|1|||||0.6134663341645885|TTAATCTCCATGGTAAACCCC|HSPB7_ENST00000311890.9_FIVE_PRIME_FLANK/CLCNKA_ENST00000331433.4_FIVE_PRIME_FLANK/HSPB7_ENST00000375718.4_FIVE_PRIME_FLANK/HSPB7_ENST00000406363.2_FIVE_PRIME_FLANK/HSPB7_ENST00000411503.1_FIVE_PRIME_FLANK/CLCNKA_ENST00000420078.1_FIVE_PRIME_FLANK/CLCNKA_ENST00000439316.2_FIVE_PRIME_FLANK/HSPB7_ENST00000487046.1_FIVE_PRIME_FLANK/HSPB7_ENST00000545268.1_FIVE_PRIME_FLANK/CLCNKA_ENST00000464764.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z30643|||HGNC:2026|chloride_%20_voltage-gated_%20_channel_%20_Ka|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"chloride_%20_channel_%20_Ka"_%2C__%20_"chloride_%20_channel_%2C__%20_voltage-sensitive_%20_Ka"|hClC-Ka||1p36.13|2016-02-04||2016-02-04|||1187|ENSG00000186510|8544406||302|Chloride_%20_voltage-gated_%20_channels|CCDS167_%2C__%20_CCDS41269_%2C__%20_CCDS57973|OTTHUMG00000009529|1187|602024|NM_001042704|P51800|ENSG00000186510|uc001axu.4|CLCKA_HUMAN|Niflumic_%20_Acid(DB04552)|B4DPD3_%7C_E7EPH6_%7C_Q5T5P8_%7C_Q5T5Q4_%7C_Q7Z6D1_%7C_Q86VT1|P51800|excretion_%20_(GO:0007588)_%7C_ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_regulation_%20_of_%20_anion_%20_transport_%20_(GO:0044070)_%7C_transmembrane_%20_transport_%20_(GO:0055085)_%7C_transport_%20_(GO:0006810)|chloride_%20_channel_%20_complex_%20_(GO:0034707)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_plasma_%20_membrane_%20_(GO:0005886)|adenyl_%20_nucleotide_%20_binding_%20_(GO:0030554)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_voltage-gated_%20_chloride_%20_channel_%20_activity_%20_(GO:0005247)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 16486793 rs904106 A G . PASS FUNCOTATION=[EPHA2|hg19|chr1|16486793|16486793|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:16486793A>G|ENST00000358432.5|-||||||0.49875311720698257|CCTGCTCTCAACCAACTGAAC|RP11-276H7.3_ENST00000426353.1_RNA/EPHA2_ENST00000461614.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||1488|biliary_tract(2)_%7C_breast(201)_%7C_central_nervous_system(60)_%7C_haematopoietic_and_lymphoid_tissue(158)_%7C_kidney(66)_%7C_large_intestine(130)_%7C_lung(375)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_skin(31)_%7C_stomach(134)_%7C_testis(13)_%7C_upper_aerodigestive_tract(120)|||||||M59371|NM_004431.3|NP_004422.2|HGNC:3386|EPH_%20_receptor_%20_A2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ECK|"EphA2"|||1p36.13|2016-10-05||2004-10-28|BC037166|2.7.10.1|1969|ENSG00000142627|9119409|NM_004431|760_%7C_555_%7C_1095|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%7C_Fibronectin_%20_type_%20_III_%20_domain_%20_containing_%7C_EPH_%20_receptors|CCDS169|OTTHUMG00000009527|1969|176946|NM_004431|P29317|ENSG00000142627|uc001aya.2|EPHA2_HUMAN|Dasatinib(DB01254)_%7C_Regorafenib(DB08896)|B5A968_%7C_Q8N3Z2|P29317|activation_%20_of_%20_Rac_%20_GTPase_%20_activity_%20_(GO:0032863)_%7C_angiogenesis_%20_(GO:0001525)_%7C_axial_%20_mesoderm_%20_formation_%20_(GO:0048320)_%7C_bone_%20_remodeling_%20_(GO:0046849)_%7C_branching_%20_involved_%20_in_%20_mammary_%20_gland_%20_duct_%20_morphogenesis_%20_(GO:0060444)_%7C_cell_%20_adhesion_%20_(GO:0007155)_%7C_cell_%20_chemotaxis_%20_(GO:0060326)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_ephrin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048013)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_(GO:0008630)_%7C_keratinocyte_%20_differentiation_%20_(GO:0030216)_%7C_lens_%20_fiber_%20_cell_%20_morphogenesis_%20_(GO:0070309)_%7C_mammary_%20_gland_%20_epithelial_%20_cell_%20_proliferation_%20_(GO:0033598)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051898)_%7C_neural_%20_tube_%20_development_%20_(GO:0021915)_%7C_neuron_%20_differentiation_%20_(GO:0030182)_%7C_notochord_%20_cell_%20_development_%20_(GO:0060035)_%7C_notochord_%20_formation_%20_(GO:0014028)_%7C_osteoblast_%20_differentiation_%20_(GO:0001649)_%7C_osteoclast_%20_differentiation_%20_(GO:0030316)_%7C_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0018108)_%7C_positive_%20_regulation_%20_of_%20_establishment_%20_of_%20_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0090004)_%7C_post-anal_%20_tail_%20_morphogenesis_%20_(GO:0036342)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_angiogenesis_%20_(GO:0045765)_%7C_regulation_%20_of_%20_blood_%20_vessel_%20_endothelial_%20_cell_%20_migration_%20_(GO:0043535)_%7C_regulation_%20_of_%20_cell_%20_adhesion_%20_mediated_%20_by_%20_integrin_%20_(GO:0033628)_%7C_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070372)_%7C_regulation_%20_of_%20_lamellipodium_%20_assembly_%20_(GO:0010591)_%7C_response_%20_to_%20_growth_%20_factor_%20_(GO:0070848)_%7C_skeletal_%20_system_%20_development_%20_(GO:0001501)_%7C_vasculogenesis_%20_(GO:0001570)_%7C_viral_%20_process_%20_(GO:0016032)|cell_%20_projection_%20_(GO:0042995)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_leading_%20_edge_%20_membrane_%20_(GO:0031256)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ATP_%20_binding_%20_(GO:0005524)_%7C_ephrin_%20_receptor_%20_activity_%20_(GO:0005003)_%7C_transmembrane_%20_receptor_%20_protein_%20_tyrosine_%20_kinase_%20_activity_%20_(GO:0004714)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 16524869 rs221031 T C . PASS FUNCOTATION=[ARHGEF19|hg19|chr1|16524869|16524869|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:16524869T>C|ENST00000270747.3|-|16|||||0.5635910224438903|GAAGAAACTATCCTTGGCCTT|ARHGEF19_ENST00000478117.1_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC040640|NM_153213.3|NP_694945.2|HGNC:26604|Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factor_%20_19|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factor_%20_(GEF)_%20_19"|FLJ33962_%2C__%20_WGEF||1p36.13|2017-07-14||2015-11-09|BC012982||128272|ENSG00000142632|19503838|NM_153213|722|Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factors|CCDS170|OTTHUMG00000002219|128272|612496|NM_153213|Q8IW93|ENSG00000142632|uc001ayc.1|ARHGJ_HUMAN||A6NJ04_%7C_Q5TEV2_%7C_Q6PJQ4_%7C_Q8N244|Q8IW93|regulation_%20_of_%20_actin_%20_cytoskeleton_%20_organization_%20_(GO:0032956)_%7C_wound_%20_healing_%20_(GO:0042060)||GTPase_%20_activator_%20_activity_%20_(GO:0005096)_%7C_Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 16574316 rs3738632 T C . PASS FUNCOTATION=[FBXO42|hg19|chr1|16574316|16574316|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:16574316T>C|ENST00000375592.3|-|10|||||0.4139650872817955|CGCTCTGCTGTATAACCTGTG||||||||||||||||||||||||||303|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||BC063864|NM_018994.1|NP_061867.1|HGNC:29249|F-box_%20_protein_%20_42|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA1332_%2C__%20_Fbx42||1p36.13|2016-10-05|||BC063864||54455|ENSG00000037637|10718198||560|F-boxes_%20_other|CCDS30613|OTTHUMG00000002218|54455|609109|NM_018994|Q6P3S6|ENSG00000037637|uc001ayg.4|FBX42_HUMAN||B3KP30_%7C_Q5TEU8_%7C_Q86XI0_%7C_Q8N3N4_%7C_Q8N5F8_%7C_Q9BRM0_%7C_Q9P2L4|Q6P3S6|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 16785394 exm21936 C T . PASS FUNCOTATION=[NECAP2|hg19|chr1|16785394|16785394|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:16785394C>T|ENST00000504551.2|+|6|||||0.5087281795511222|GACCTGAGCACGGTTTTTCCT|NECAP2_ENST00000337132.5_THREE_PRIME_UTR/NECAP2_ENST00000406746.1_THREE_PRIME_UTR/NECAP2_ENST00000443980.2_MISSENSE_p.T242M/NECAP2_ENST00000457722.2_THREE_PRIME_UTR/RP4-798A10.2_ENST00000457898.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL669962|||HGNC:25528|NECAP_%20_endocytosis_%20_associated_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10420||1p36.13|2014-11-19|||AK021938||55707|ENSG00000157191|14555962_%2C__%20_15494011|NM_018090|||CCDS173_%2C__%20_CCDS44066_%2C__%20_CCDS44067|OTTHUMG00000002313|55707|611624|NM_001145277|Q9NVZ3|ENSG00000157191|uc001ayo.4|NECP2_HUMAN||B4DY19_%7C_E9PGQ8_%7C_Q5VSU4_%7C_Q5VSU5_%7C_Q9H7L1_%7C_Q9H8L1|Q9NVZ3|endocytosis_%20_(GO:0006897)_%7C_protein_%20_transport_%20_(GO:0015031)|clathrin_%20_vesicle_%20_coat_%20_(GO:0030125)_%7C_coated_%20_pit_%20_(GO:0005905)_%7C_intracellular_%20_(GO:0005622)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 16809796 psy_rs41269205 T G . PASS FUNCOTATION=[CROCCP3|hg19|chr1|16809796|16809796|RNA||SNP|T|T|G|g.chr1:16809796T>G|ENST00000263511.4|-|||c.e10+14A>C|||0.5860349127182045|TCAGGAGCTCTTTGGCGCTCC|||||||||||||||||||||||||||||||||||||HGNC:29405|ciliary_%20_rootlet_%20_coiled-coil_%2C__%20_rootletin_%20_pseudogene_%20_3|Approved|pseudogene|pseudogene|CROCCL2|"ciliary_%20_rootlet_%20_coiled-coil_%2C__%20_rootletin-like_%20_2"|KIAA1922||1p36.13|2014-11-19|2010-07-08|2010-07-08|AB067509||114819|ENSG00000080947|11572484|XM_057040||||OTTHUMG00000037885|114819||NR_023386|Q8IVE0|ENSG00000080947||CROL2_HUMAN||Q96PW6|Q8IVE0|centrosome_%20_organization_%20_(GO:0051297)|ciliary_%20_rootlet_%20_(GO:0035253)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 16847832 rs277462 T C . PASS FUNCOTATION=[RP4-798A10.4|hg19|chr1|16847832|16847832|LINCRNA||SNP|T|T|C|g.chr1:16847832T>C|ENST00000452795.2|+|||c.e2-227T>C|||0.5685785536159601|ACTGGCAGGGTCTCTGGCGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17311190 rs9435734 A G . PASS FUNCOTATION=[MFAP2|hg19|chr1|17311190|17311190|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:17311190A>G|ENST00000375535.3|-||||||0.5361596009975063|ACCACCCTGAACCGTCGCTGG|MFAP2_ENST00000438542.1_FIVE_PRIME_FLANK/RP1-37C10.3_ENST00000446261.1_RNA/MFAP2_ENST00000490075.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U19718|||HGNC:7033|microfibril_%20_associated_%20_protein_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"microfibrillar_%20_associated_%20_protein_%20_2"|MAGP_%2C__%20_MAGP-1|"microfibril-associated_%20_glycoprotein-1"|1p36.13|2017-05-16||2017-05-16|BC015039||4237|ENSG00000117122|7759096|NM_002403|||CCDS174_%2C__%20_CCDS44071|OTTHUMG00000002290|4237|156790|NM_001135247|P55001|ENSG00000117122|uc057csz.1|MFAP2_HUMAN||Q53X60_%7C_Q5JXY0|P55001|extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_platelet_%20_formation_%20_(GO:0030220)|extracellular_%20_region_%20_(GO:0005576)_%7C_microfibril_%20_(GO:0001527)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17312485 exm22841 C T . PASS FUNCOTATION=[ATP13A2|hg19|chr1|17312485|17312485|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:17312485C>T|ENST00000326735.8|-|29|||||0.6159600997506235|ATTTGCTACACTGACAGCAGC|ATP13A2_ENST00000452699.1_THREE_PRIME_UTR/ATP13A2_ENST00000341676.5_MISSENSE_p.V1158M/RP1-37C10.3_ENST00000446261.1_RNA|||||||||||||||||||||||||180|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471134|||HGNC:30213|ATPase_%20_13A2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PARK9|"Parkinson_%20_disease_%20_(autosomal_%20_recessive)_%20_9_%20_(Kufor-Rakeb_%20_syndrome)"_%2C__%20_"ATPase_%20_type_%20_13A2"|HSA9947_%2C__%20_CLN12||1p36.13|2017-03-24||2016-02-11|AL354615||23400|ENSG00000159363|15381061_%2C__%20_16964263|NM_022089|672_%7C_1213|Parkinson_%20_disease_%20_associated_%20_genes_%7C_ATPase_%20_orphan_%20_transporters|CCDS175_%2C__%20_CCDS44072_%2C__%20_CCDS44073|OTTHUMG00000002293|23400|610513|NM_001141973|Q9NQ11|ENSG00000159363|uc001baa.3|AT132_HUMAN||O75700_%7C_Q5JXY1_%7C_Q5JXY2_%7C_Q6S9Z9|Q9NQ11|cell_%20_death_%20_(GO:0008219)_%7C_cellular_%20_response_%20_to_%20_manganese_%20_ion_%20_(GO:0071287)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_lysosome_%20_(GO:0005764)|ATP_%20_binding_%20_(GO:0005524)_%7C_cation-transporting_%20_ATPase_%20_activity_%20_(GO:0019829)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17312586 exm22845 G A . PASS FUNCOTATION=[ATP13A2|hg19|chr1|17312586|17312586|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:17312586G>A|ENST00000326735.8|-|29|||||0.6309226932668329|GGGTGGTCTCGGGGGAGGAGT|ATP13A2_ENST00000452699.1_THREE_PRIME_UTR/ATP13A2_ENST00000341676.5_MISSENSE_p.P1124L/RP1-37C10.3_ENST00000446261.1_RNA|||||||||||||||||||||||||180|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471134|||HGNC:30213|ATPase_%20_13A2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PARK9|"Parkinson_%20_disease_%20_(autosomal_%20_recessive)_%20_9_%20_(Kufor-Rakeb_%20_syndrome)"_%2C__%20_"ATPase_%20_type_%20_13A2"|HSA9947_%2C__%20_CLN12||1p36.13|2017-03-24||2016-02-11|AL354615||23400|ENSG00000159363|15381061_%2C__%20_16964263|NM_022089|672_%7C_1213|Parkinson_%20_disease_%20_associated_%20_genes_%7C_ATPase_%20_orphan_%20_transporters|CCDS175_%2C__%20_CCDS44072_%2C__%20_CCDS44073|OTTHUMG00000002293|23400|610513|NM_001141973|Q9NQ11|ENSG00000159363|uc001baa.3|AT132_HUMAN||O75700_%7C_Q5JXY1_%7C_Q5JXY2_%7C_Q6S9Z9|Q9NQ11|cell_%20_death_%20_(GO:0008219)_%7C_cellular_%20_response_%20_to_%20_manganese_%20_ion_%20_(GO:0071287)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_lysosome_%20_(GO:0005764)|ATP_%20_binding_%20_(GO:0005524)_%7C_cation-transporting_%20_ATPase_%20_activity_%20_(GO:0019829)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17312596 exm22847 T A . PASS FUNCOTATION=[ATP13A2|hg19|chr1|17312596|17312596|THREE_PRIME_UTR||SNP|T|T|A|g.chr1:17312596T>A|ENST00000326735.8|-|29|||||0.6334164588528678|GGGGGAGGAGTGTAGACAGTC|ATP13A2_ENST00000452699.1_THREE_PRIME_UTR/ATP13A2_ENST00000341676.5_MISSENSE_p.T1121S/RP1-37C10.3_ENST00000446261.1_RNA|||||||||||||||||||||||||180|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471134|||HGNC:30213|ATPase_%20_13A2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PARK9|"Parkinson_%20_disease_%20_(autosomal_%20_recessive)_%20_9_%20_(Kufor-Rakeb_%20_syndrome)"_%2C__%20_"ATPase_%20_type_%20_13A2"|HSA9947_%2C__%20_CLN12||1p36.13|2017-03-24||2016-02-11|AL354615||23400|ENSG00000159363|15381061_%2C__%20_16964263|NM_022089|672_%7C_1213|Parkinson_%20_disease_%20_associated_%20_genes_%7C_ATPase_%20_orphan_%20_transporters|CCDS175_%2C__%20_CCDS44072_%2C__%20_CCDS44073|OTTHUMG00000002293|23400|610513|NM_001141973|Q9NQ11|ENSG00000159363|uc001baa.3|AT132_HUMAN||O75700_%7C_Q5JXY1_%7C_Q5JXY2_%7C_Q6S9Z9|Q9NQ11|cell_%20_death_%20_(GO:0008219)_%7C_cellular_%20_response_%20_to_%20_manganese_%20_ion_%20_(GO:0071287)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_lysosome_%20_(GO:0005764)|ATP_%20_binding_%20_(GO:0005524)_%7C_cation-transporting_%20_ATPase_%20_activity_%20_(GO:0019829)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17395480 exm2273318 G A . PASS FUNCOTATION=[PADI2|hg19|chr1|17395480|17395480|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:17395480G>A|ENST00000375486.4|-|16|||||0.5985037406483791|GGCTCTGGGCGTGTGAGGGAG|PADI2_ENST00000444885.2_THREE_PRIME_UTR/PADI2_ENST00000466151.1_INTRON|||||||||||||||||||||||||161|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC009701|NM_007365.2|NP_031391.2|HGNC:18341|peptidyl_%20_arginine_%20_deiminase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_II"|KIAA0994_%2C__%20_PDI2||1p36.13|2016-10-05||2016-04-06|AB030176|3.5.3.15|11240|ENSG00000117115|2768262||677|Peptidyl_%20_arginine_%20_deiminases|CCDS177|OTTHUMG00000002295|11240|607935|NM_007365|Q9Y2J8|ENSG00000117115|uc001baf.4|PADI2_HUMAN|L-Citrulline(DB00155)|Q96DA7_%7C_Q9UPN2|Q9Y2J8|chromatin-mediated_%20_maintenance_%20_of_%20_transcription_%20_(GO:0048096)_%7C_histone_%20_H3-R26_%20_citrullination_%20_(GO:0036413)_%7C_intracellular_%20_estrogen_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030520)_%7C_negative_%20_regulation_%20_of_%20_chemokine-mediated_%20_signaling_%20_pathway_%20_(GO:0070100)_%7C_negative_%20_regulation_%20_of_%20_lymphocyte_%20_chemotaxis_%20_(GO:1901624)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_chromatin_%20_disassembly_%20_(GO:0010848)_%7C_substantia_%20_nigra_%20_development_%20_(GO:0021762)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_transcriptionally_%20_active_%20_chromatin_%20_(GO:0035327)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_estrogen_%20_receptor_%20_binding_%20_(GO:0030331)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17395521 rs2076598 G A . PASS FUNCOTATION=[PADI2|hg19|chr1|17395521|17395521|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:17395521G>A|ENST00000375486.4|-|16|||||0.6059850374064838|GGAGGCAAACGCCAGGGCCCC|PADI2_ENST00000444885.2_THREE_PRIME_UTR/PADI2_ENST00000466151.1_INTRON|||||||||||||||||||||||||161|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC009701|NM_007365.2|NP_031391.2|HGNC:18341|peptidyl_%20_arginine_%20_deiminase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_II"|KIAA0994_%2C__%20_PDI2||1p36.13|2016-10-05||2016-04-06|AB030176|3.5.3.15|11240|ENSG00000117115|2768262||677|Peptidyl_%20_arginine_%20_deiminases|CCDS177|OTTHUMG00000002295|11240|607935|NM_007365|Q9Y2J8|ENSG00000117115|uc001baf.4|PADI2_HUMAN|L-Citrulline(DB00155)|Q96DA7_%7C_Q9UPN2|Q9Y2J8|chromatin-mediated_%20_maintenance_%20_of_%20_transcription_%20_(GO:0048096)_%7C_histone_%20_H3-R26_%20_citrullination_%20_(GO:0036413)_%7C_intracellular_%20_estrogen_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030520)_%7C_negative_%20_regulation_%20_of_%20_chemokine-mediated_%20_signaling_%20_pathway_%20_(GO:0070100)_%7C_negative_%20_regulation_%20_of_%20_lymphocyte_%20_chemotaxis_%20_(GO:1901624)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_chromatin_%20_disassembly_%20_(GO:0010848)_%7C_substantia_%20_nigra_%20_development_%20_(GO:0021762)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_transcriptionally_%20_active_%20_chromatin_%20_(GO:0035327)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_estrogen_%20_receptor_%20_binding_%20_(GO:0030331)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17521274 rs3003469 G A . PASS FUNCOTATION=[RP11-380J14.1|hg19|chr1|17521274|17521274|LINCRNA||SNP|G|G|A|g.chr1:17521274G>A|ENST00000412427.1|+|||c.e3+1488G>A|||0.5536159600997507|GTCAGATGACGCTAGGTGCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17634718 exm23564 A G . PASS FUNCOTATION=[PADI4|hg19|chr1|17634718|17634718|START_CODON_SNP||SNP|A|A|G|g.chr1:17634718A>G|ENST00000375448.4|+|1|27|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6134663341645885|TAGCCCGACGATGGCCCAGGG|PADI4_ENST00000375453.1_START_CODON_SNP_p.M1V|||||||||||||||||||||||||70|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_urinary_tract(1)|||||||BC025718|NM_012387.2|NP_036519.2|HGNC:18368|peptidyl_%20_arginine_%20_deiminase_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PADI5|"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_V"_%2C__%20_"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_IV"|PAD_%2C__%20_PDI5_%2C__%20_PDI4||1p36.13|2016-04-06||2016-04-06|AB017919|3.5.3.15|23569|ENSG00000159339|10488123|NM_012387|677|Peptidyl_%20_arginine_%20_deiminases|CCDS180|OTTHUMG00000002371|23569|605347|NM_012387|Q9UM07|ENSG00000159339|uc001baj.3|PADI4_HUMAN|L-Citrulline(DB00155)|A8K392_%7C_B2RBW0_%7C_Q5VTZ8_%7C_Q70SX4|Q9UM07|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)_%7C_chromatin_%20_modification_%20_(GO:0016568)_%7C_chromatin_%20_remodeling_%20_(GO:0006338)_%7C_histone_%20_citrullination_%20_(GO:0036414)_%7C_histone_%20_H3-R26_%20_citrullination_%20_(GO:0036413)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_nucleosome_%20_assembly_%20_(GO:0006334)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_stem_%20_cell_%20_maintenance_%20_(GO:0019827)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|arginine_%20_deiminase_%20_activity_%20_(GO:0016990)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|PADI4:23569|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|141280036|17634718|false|true|0|false|0|false|0.999176_%2C_0.000824232|false|false|false|SNV|true|0x050200000a05040426000100|1|false|134|rs141280036|] +1 17698750 exm23709 G A . PASS FUNCOTATION=[PADI6|hg19|chr1|17698750|17698750|RNA||SNP|G|G|A|g.chr1:17698750G>A|ENST00000434762.2|+|||c.e1+59G>A|||0.6084788029925187|GATGGTCAGCGTGGAGGGCCG||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17699676 exm23721 C T . PASS FUNCOTATION=[PADI6|hg19|chr1|17699676|17699676|RNA||SNP|C|C|T|g.chr1:17699676C>T|ENST00000434762.2|+|||c.e2-52C>T|||0.5910224438902744|TCTGATCCCACGTACGCCACA||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17699720 exm23724 G A . PASS FUNCOTATION=[PADI6|hg19|chr1|17699720|17699720|RNA||SNP|G|G|A|g.chr1:17699720G>A|ENST00000434762.2|+|||c.e2-8G>A|||0.5835411471321695|TTCCGTGGATGCGGATAAGGT||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17701961 exm23726 G A . PASS FUNCOTATION=[PADI6|hg19|chr1|17701961|17701961|RNA||SNP|G|G|A|g.chr1:17701961G>A|ENST00000434762.2|+|||c.e3-33G>A|||0.5660847880299252|GGATGCCCCCGTGGGCACAGC||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17706442 exm23728 G A . PASS FUNCOTATION=[PADI6|hg19|chr1|17706442|17706442|RNA||SNP|G|G|A|g.chr1:17706442G>A|ENST00000434762.2|+|||c.e4+27G>A|||0.5087281795511222|GACATCTACCGCAATGGGCAA||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17714864 rs6696295 T C . PASS FUNCOTATION=[PADI6|hg19|chr1|17714864|17714864|RNA||SNP|T|T|C|g.chr1:17714864T>C|ENST00000434762.2|+|||c.e7-12T>C|||0.5236907730673317|CCATCCCTTCTTTCTCTCCTA||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17714971 exm23745 G A . PASS FUNCOTATION=[PADI6|hg19|chr1|17714971|17714971|RNA||SNP|G|G|A|g.chr1:17714971G>A|ENST00000434762.2|+|||c.e7-83G>A|||0.5411471321695761|GACTTTCTACGTTGAAGCTAT||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17715015 exm23747 C G . PASS FUNCOTATION=[PADI6|hg19|chr1|17715015|17715015|RNA||SNP|C|C|G|g.chr1:17715015C>G|ENST00000434762.2|+|||c.e7-39C>G|||0.5660847880299252|CAGGCCTCATCTCCTACTCTG||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17715081 rs2526842 C T . PASS FUNCOTATION=[PADI6|hg19|chr1|17715081|17715081|RNA||SNP|C|C|T|g.chr1:17715081C>T|ENST00000434762.2|+|||c.e7+27C>T|||0.5660847880299252|GATGGGTCCTCAGACTAGGAT||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17719843 rs6695214 T C . PASS FUNCOTATION=[PADI6|hg19|chr1|17719843|17719843|RNA||SNP|T|T|C|g.chr1:17719843T>C|ENST00000434762.2|+|||c.e10-628T>C|||0.4513715710723192|CTGGCTAAGATGTAGGGAACA||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17720515 exm23765 G A . PASS FUNCOTATION=[PADI6|hg19|chr1|17720515|17720515|RNA||SNP|G|G|A|g.chr1:17720515G>A|ENST00000434762.2|+|||c.e10+44G>A|||0.5610972568578554|ACAAGACAACGTCCTTGATCC||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17720542 exm23766 C T . PASS FUNCOTATION=[PADI6|hg19|chr1|17720542|17720542|RNA||SNP|C|C|T|g.chr1:17720542C>T|ENST00000434762.2|+|||c.e10-36C>T|||0.5610972568578554|CACCTCAGGCCGCCGATCTCG||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17720545 exm23767 C T . PASS FUNCOTATION=[PADI6|hg19|chr1|17720545|17720545|RNA||SNP|C|C|T|g.chr1:17720545C>T|ENST00000434762.2|+|||c.e10-33C>T|||0.5660847880299252|CTCAGGCCGCCGATCTCGATG||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17721453 exm23776 G C . PASS FUNCOTATION=[PADI6|hg19|chr1|17721453|17721453|RNA||SNP|G|G|C|g.chr1:17721453G>C|ENST00000434762.2|+|||c.e12+6G>C|||0.5586034912718204|CTAGCGCAGAGGGCCGGGCCA||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17722110 exm23785 C T . PASS FUNCOTATION=[PADI6|hg19|chr1|17722110|17722110|RNA||SNP|C|C|T|g.chr1:17722110C>T|ENST00000434762.2|+|||c.e13-49C>T|||0.516209476309227|AAGGCTATGGCGACGCTCTTC||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17722113 exm23787 C T . PASS FUNCOTATION=[PADI6|hg19|chr1|17722113|17722113|RNA||SNP|C|C|T|g.chr1:17722113C>T|ENST00000434762.2|+|||c.e13-46C>T|||0.513715710723192|GCTATGGCGACGCTCTTCTGT||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17722363 exm-rs7538876 G A . PASS FUNCOTATION=[PADI6|hg19|chr1|17722363|17722363|RNA||SNP|G|G|A|g.chr1:17722363G>A|ENST00000434762.2|+|||c.e13+204G>A|||0.4912718204488778|GGGATGGCCTGGAGGCTGTTT||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17722363 rs7538876 G A . PASS FUNCOTATION=[PADI6|hg19|chr1|17722363|17722363|RNA||SNP|G|G|A|g.chr1:17722363G>A|ENST00000434762.2|+|||c.e13+204G>A|||0.4912718204488778|GGGATGGCCTGGAGGCTGTTT||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17723586 exm23790 C T . PASS FUNCOTATION=[PADI6|hg19|chr1|17723586|17723586|RNA||SNP|C|C|T|g.chr1:17723586C>T|ENST00000434762.2|+|||c.e14+19C>T|||0.600997506234414|CCAAAACCATCGACCAACTTC||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17723587 exm23791 G A . PASS FUNCOTATION=[PADI6|hg19|chr1|17723587|17723587|RNA||SNP|G|G|A|g.chr1:17723587G>A|ENST00000434762.2|+|||c.e14+20G>A|||0.600997506234414|CAAAACCATCGACCAACTTCT||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17727811 exm23804 G C . PASS FUNCOTATION=[PADI6|hg19|chr1|17727811|17727811|RNA||SNP|G|G|C|g.chr1:17727811G>C|ENST00000434762.2|+|||c.e16+110G>C|||0.5760598503740648|TGGAGCCCCTGGGCTTCAAGT||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17727838 exm23807 C T . PASS FUNCOTATION=[PADI6|hg19|chr1|17727838|17727838|RNA||SNP|C|C|T|g.chr1:17727838C>T|ENST00000434762.2|+|||c.e16+137C>T|||0.57356608478803|TCATCAATGACTTTGACTGTT||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17727860 exm23809 G A . PASS FUNCOTATION=[PADI6|hg19|chr1|17727860|17727860|RNA||SNP|G|G|A|g.chr1:17727860G>A|ENST00000434762.2|+|||c.e16+159G>A|||0.5586034912718204|CCTGACAGAGGTCGGAGACAT||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 17728119 rs2526830 A G . PASS FUNCOTATION=[PADI6|hg19|chr1|17728119|17728119|RNA||SNP|A|A|G|g.chr1:17728119A>G|ENST00000434762.2|+|||c.e16-76A>G|||0.5511221945137157|TTGAACCCCTATGGGGAAAAG||||||||||||||||||||||||||113|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_pancreas(22)||||||||||HGNC:20449|peptidyl_%20_arginine_%20_deiminase_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_VI"|||1p36.13|2016-04-06||2016-04-06|AY422079|3.5.3.15|353238|ENSG00000276747|15087120|NM_207421|677|Peptidyl_%20_arginine_%20_deiminases|CCDS72715|OTTHUMG00000002372|353238|610363|NM_207421|Q6TGC4|ENSG00000276747|uc031trf.2|PADI6_HUMAN|L-Citrulline(DB00155)|Q330K5_%7C_Q70SX3|Q6TGC4|cytoplasm_%20_organization_%20_(GO:0007028)_%7C_cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_translation_%20_by_%20_machinery_%20_localization_%20_(GO:0043143)|cytoplasm_%20_(GO:0005737)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 18046287 rs4920626 G T . PASS FUNCOTATION=[RP11-473A10.2|hg19|chr1|18046287|18046287|LINCRNA||SNP|G|G|T|g.chr1:18046287G>T|ENST00000430540.1|+|||c.e2+1072G>T|||0.5910224438902744|CATATCATGCGCCTCTATAAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 18054323 psy_rs6703085 A C . PASS FUNCOTATION=[RP11-473A10.2|hg19|chr1|18054323|18054323|LINCRNA||SNP|A|A|C|g.chr1:18054323A>C|ENST00000430540.1|+|||c.e3+6060A>C|||0.4114713216957606|CTCCCTCCTTACTTCCCTCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 18060436 rs11584168 C T . PASS FUNCOTATION=[RP11-473A10.2|hg19|chr1|18060436|18060436|LINCRNA||SNP|C|C|T|g.chr1:18060436C>T|ENST00000430540.1|+|||c.e3+12173C>T|||0.5386533665835411|TTCCATCAAACGCCGCGTGAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 18065643 rs2077398 T C . PASS FUNCOTATION=[RP11-473A10.2|hg19|chr1|18065643|18065643|LINCRNA||SNP|T|T|C|g.chr1:18065643T>C|ENST00000430540.1|+|||c.e4-10529T>C|||0.47880299251870323|CTCTCCAGGCTCTCAGCAACC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 18069118 psy_rs260524 T G . PASS FUNCOTATION=[RP11-473A10.2|hg19|chr1|18069118|18069118|LINCRNA||SNP|T|T|G|g.chr1:18069118T>G|ENST00000430540.1|+|||c.e4-7054T>G|||0.46633416458852867|CTAGACCAGGTTTCTGCAAAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 18392608 rs4920421 C T . PASS FUNCOTATION=[RP11-174G17.2|hg19|chr1|18392608|18392608|LINCRNA||SNP|C|C|T|g.chr1:18392608C>T|ENST00000569711.1|+|||c.e1+267C>T|||0.46633416458852867|ATTACCAGCTCAGAGAAGTGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 18399535 psy_rs72653385 G A . PASS FUNCOTATION=[RP11-174G17.2|hg19|chr1|18399535|18399535|LINCRNA||SNP|G|G|A|g.chr1:18399535G>A|ENST00000569711.1|+|||c.e3+821G>A|||0.49625935162094764|AGGGAAAAATGTTGCCAGGCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 19198064 rs1138333 T G . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198064|19198064|THREE_PRIME_UTR||SNP|T|T|G|g.chr1:19198064T>G|ENST00000375341.3|-|15|||||0.5536159600997507|AAATGACACATATCCTGGAAG|ALDH4A1_ENST00000290597.5_THREE_PRIME_UTR/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 19198100 kgp468659 C G . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198100|19198100|THREE_PRIME_UTR||SNP|C|C|G|g.chr1:19198100C>G|ENST00000375341.3|-|15|||||0.5511221945137157|CCCAGCCCAGCTGGCACCAGC|ALDH4A1_ENST00000290597.5_THREE_PRIME_UTR/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 19198166 kgp8524245 G A . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198166|19198166|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:19198166G>A|ENST00000375341.3|-|15|||||0.5685785536159601|CCAGCTCCGGGTGGGGTCCCA|ALDH4A1_ENST00000290597.5_THREE_PRIME_UTR/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 19198299 kgp15236875 G A . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198299|19198299|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:19198299G>A|ENST00000375341.3|-|15|||||0.5910224438902744|GGGAGGAATCGTGGTCACAGA|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 19198414 kgp6288782 G A . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198414|19198414|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:19198414G>A|ENST00000375341.3|-|15|||||0.5685785536159601|CCATGCTGACGAACCCAAGGC|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 19198576 kgp4426348 A G . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198576|19198576|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:19198576A>G|ENST00000375341.3|-|15|||||0.6134663341645885|CTGAGGATCAAAGGGAAGGCT|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 19198627 GA018624 G A . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198627|19198627|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:19198627G>A|ENST00000375341.3|-|15|||||0.6184538653366584|CCAGAATCACGGCCTAAACCG|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 19198637 GA018625 G A . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198637|19198637|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:19198637G>A|ENST00000375341.3|-|15|||||0.6109725685785536|GGCCTAAACCGGCAGGACCAT|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 19198837 kgp15504222 T C . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198837|19198837|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:19198837T>C|ENST00000375341.3|-|15|||||0.6234413965087282|GTGAGGAAGGTAGACAGCCCA|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 19198895 rs9117 A G . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198895|19198895|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:19198895A>G|ENST00000375341.3|-|15|||||0.6159600997506235|CCCACAGGTCAGTCTGAGTTA|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 19198972 kgp24983758 G A . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198972|19198972|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:19198972G>A|ENST00000375341.3|-|15|||||0.6159600997506235|GGTGAGGTTTGCCAAGGGGCC|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 19199067 kgp1588165 G A . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19199067|19199067|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:19199067G>A|ENST00000375341.3|-|15|||||0.5960099750623441|GCCCAGTGGAGGGCAGAGGGA|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 19199217 kgp25228545 A G . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19199217|19199217|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:19199217A>G|ENST00000375341.3|-|15|||||0.6159600997506235|AAGGGAGTCAAGCCCGGATTA|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 19229092 kgp15363246 G A . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19229092|19229092|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:19229092G>A|ENST00000375341.3|-|1|||||0.6408977556109726|CGTCCAGAGCGCACCACCTCG|ALDH4A1_ENST00000290597.5_FIVE_PRIME_FLANK/ALDH4A1_ENST00000538839.1_FIVE_PRIME_FLANK/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U24267|NM_003748.3|NP_003739.2|HGNC:406|aldehyde_%20_dehydrogenase_%20_4_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH4|"aldehyde_%20_dehydrogenase_%20_4_%20_family_%2C__%20_member_%20_A1"|P5CDh||1p36.13|2016-10-05||2015-11-18|U24266|1.5.1.12|8659|ENSG00000159423|8621661||398|Aldehyde_%20_dehydrogenases|CCDS188_%2C__%20_CCDS53272_%2C__%20_CCDS81273|OTTHUMG00000002443|8659|606811|NM_001161504|P30038|ENSG00000159423|uc001bbc.4|AL4A1_HUMAN||A8K1Q7_%7C_B4DGE4_%7C_D2D4A3_%7C_Q16882_%7C_Q53HU4_%7C_Q5JNV6_%7C_Q8IZ38_%7C_Q96IF0_%7C_Q9UDI6|P30038|4-hydroxyproline_%20_catabolic_%20_process_%20_(GO:0019470)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_glutamate_%20_biosynthetic_%20_process_%20_(GO:0006537)_%7C_proline_%20_biosynthetic_%20_process_%20_(GO:0006561)_%7C_proline_%20_catabolic_%20_process_%20_(GO:0006562)_%7C_proline_%20_catabolic_%20_process_%20_to_%20_glutamate_%20_(GO:0010133)_%7C_proline_%20_metabolic_%20_process_%20_(GO:0006560)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_matrix_%20_(GO:0005759)|1-pyrroline-5-carboxylate_%20_dehydrogenase_%20_activity_%20_(GO:0003842)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 19578192 rs2294942 G A . PASS FUNCOTATION=[MRTO4|hg19|chr1|19578192|19578192|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:19578192G>A|ENST00000330263.4|+|1|||||0.71571072319202|GCGGCGGCTTGGCAGGGAGAG|EMC1_ENST00000356068.2_FIVE_PRIME_FLANK/EMC1_ENST00000375199.3_FIVE_PRIME_FLANK/EMC1_ENST00000375208.3_FIVE_PRIME_FLANK/EMC1_ENST00000477853.1_FIVE_PRIME_FLANK/MRTO4_ENST00000493700.1_FIVE_PRIME_FLANK|GBM(192_%3B_2418_%20_3032_%20_7540_%20_48714)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471134|NM_016183.3|NP_057267.2|HGNC:18477|MRT4_%20_homolog_%2C__%20_ribosome_%20_maturation_%20_factor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf33|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_33"_%2C__%20_"MRT4_%2C__%20_mRNA_%20_turnover_%20_4_%2C__%20_homolog_%20_(S._%20_cerevisiae)"_%2C__%20_"mRNA_%20_turnover_%20_4_%20_homolog_%20_(S._%20_cerevisiae)"|dJ657E11.4_%2C__%20_MRT4||1p36.13|2015-07-02|2007-01-05|2015-07-02|AK027569||51154|ENSG00000053372|20083226|NM_016183|||CCDS191|OTTHUMG00000002496|51154||NM_016183|Q9UKD2|ENSG00000053372|uc001bbs.4|MRT4_HUMAN||B3KNB3_%7C_Q5TG55_%7C_Q96SS6_%7C_Q9BPV9|Q9UKD2|ribosome_%20_biogenesis_%20_(GO:0042254)|nuclear_%20_membrane_%20_(GO:0031965)_%7C_nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 19593199 rs7527253 T C . PASS FUNCOTATION=[AKR7L|hg19|chr1|19593199|19593199|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:19593199T>C|ENST00000420396.2|-|5|||||0.3765586034912718|TTTTTACTTATTGGCTATTAT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC035351|||HGNC:24056|aldo-keto_%20_reductase_%20_family_%20_7_%20_like_%20_(gene/pseudogene)|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"aldo-keto_%20_reductase_%20_family_%20_7-like"|AFAR3||1p36.13|2017-02-09||2016-06-03|||246181|ENSG00000211454|12879023|NM_201252||||OTTHUMG00000002520|246181|608478|NR_040288|Q8NHP1|ENSG00000211454|uc057cwi.1|ARK74_HUMAN||Q5U614|Q8NHP1||extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|oxidoreductase_%20_activity_%20_(GO:0016491)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 19922387 rs1737416 C T . PASS FUNCOTATION=[MINOS1|hg19|chr1|19922387|19922387|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:19922387C>T|ENST00000322753.6|+||||||0.39900249376558605|TTGCATACAACCTACACACAT|MINOS1-NBL1_ENST00000602662.1_FIVE_PRIME_FLANK/RP5-1056L3.1_ENST00000416470.1_RNA/MINOS1_ENST00000486890.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||BC070388|NM_001204083.1|NP_001191012.1|HGNC:32068|mitochondrial_%20_inner_%20_membrane_%20_organizing_%20_system_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf151|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_151"|RP5-1056L3.2_%2C__%20_FLJ36999_%2C__%20_MIO10_%2C__%20_Mic10||1p36.13|2015-06-01|2011-10-04|2011-10-04|AK094318||440574|ENSG00000173436|21944719|NM_001032363|||CCDS30620_%2C__%20_CCDS72719|OTTHUMG00000002712|440574|616574|NM_001032363|Q5TGZ0|ENSG00000173436|uc001bci.3|MIC10_HUMAN||Q96G68|Q5TGZ0||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrion_%20_(GO:0005739)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 19954014 rs880554 G T . PASS FUNCOTATION=[MINOS1|hg19|chr1|19954014|19954014|THREE_PRIME_UTR||SNP|G|G|T|g.chr1:19954014G>T|ENST00000322753.6|+|4|||||0.4763092269326683|GGAGAAGAGAGGTGTAGGCAA|MINOS1-NBL1_ENST00000602662.1_INTRON|||||||||||||||||||||||||||||||||BC070388|NM_001204083.1|NP_001191012.1|HGNC:32068|mitochondrial_%20_inner_%20_membrane_%20_organizing_%20_system_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf151|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_151"|RP5-1056L3.2_%2C__%20_FLJ36999_%2C__%20_MIO10_%2C__%20_Mic10||1p36.13|2015-06-01|2011-10-04|2011-10-04|AK094318||440574|ENSG00000173436|21944719|NM_001032363|||CCDS30620_%2C__%20_CCDS72719|OTTHUMG00000002712|440574|616574|NM_001032363|Q5TGZ0|ENSG00000173436|uc001bci.3|MIC10_HUMAN||Q96G68|Q5TGZ0||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrion_%20_(GO:0005739)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20008880 rs9064 G T . PASS FUNCOTATION=[TMCO4|hg19|chr1|20008880|20008880|THREE_PRIME_UTR||SNP|G|G|T|g.chr1:20008880G>T|ENST00000294543.6|-|16|||||0.486284289276808|CTCTGTTAGTGGTGTCCAGAT|TMCO4_ENST00000375127.1_THREE_PRIME_UTR/TMCO4_ENST00000375122.2_THREE_PRIME_UTR/TMCO4_ENST00000489814.1_INTRON|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BX640987|NM_181719.4|NP_859070.3|HGNC:27393|transmembrane_%20_and_%20_coiled-coil_%20_domains_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||DKFZp686C23231||1p36.13|2014-11-19|||||255104|ENSG00000162542||NM_181719|||CCDS198|OTTHUMG00000002697|255104||NM_181719|Q5TGY1|ENSG00000162542|uc001bcn.3|TMCO4_HUMAN||Q5TGY2_%7C_Q6MZN5_%7C_Q7Z6K6_%7C_Q9UQP4_%7C_Q9Y3K1|Q5TGY1||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20142681 rs3806310 A G . PASS FUNCOTATION=[RNF186|hg19|chr1|20142681|20142681|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:20142681A>G|ENST00000375121.2|-||||||0.5461346633416458|CCTTCCATGGAGCAGGACCTT|RP11-91K11.2_ENST00000454736.1_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR457228|NM_019062.1|NP_061935.1|HGNC:25978|ring_%20_finger_%20_protein_%20_186|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ20225|"hypothetical_%20_protein_%20_FLJ20225"|1p36.13|2014-11-19|||||54546|ENSG00000178828|12477932|NM_019062|58|Ring_%20_finger_%20_proteins|CCDS199|OTTHUMG00000002709|54546|617163|NM_019062|Q9NXI6|ENSG00000178828|uc001bcr.3|RN186_HUMAN||Q53GE0|Q9NXI6||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20142866 exm-rs3806308 C T . PASS FUNCOTATION=[RNF186|hg19|chr1|20142866|20142866|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:20142866C>T|ENST00000375121.2|-||||||0.5311720698254364|GGGCAAATGGCGGGGTGGCAT|RP11-91K11.2_ENST00000454736.1_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR457228|NM_019062.1|NP_061935.1|HGNC:25978|ring_%20_finger_%20_protein_%20_186|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ20225|"hypothetical_%20_protein_%20_FLJ20225"|1p36.13|2014-11-19|||||54546|ENSG00000178828|12477932|NM_019062|58|Ring_%20_finger_%20_proteins|CCDS199|OTTHUMG00000002709|54546|617163|NM_019062|Q9NXI6|ENSG00000178828|uc001bcr.3|RN186_HUMAN||Q53GE0|Q9NXI6||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20144332 rs17396847 G A . PASS FUNCOTATION=[RNF186|hg19|chr1|20144332|20144332|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:20144332G>A|ENST00000375121.2|-||||||0.38403990024937656|AAAGGGTCAGGCATTGATGAG|RP11-91K11.2_ENST00000454736.1_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR457228|NM_019062.1|NP_061935.1|HGNC:25978|ring_%20_finger_%20_protein_%20_186|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ20225|"hypothetical_%20_protein_%20_FLJ20225"|1p36.13|2014-11-19|||||54546|ENSG00000178828|12477932|NM_019062|58|Ring_%20_finger_%20_proteins|CCDS199|OTTHUMG00000002709|54546|617163|NM_019062|Q9NXI6|ENSG00000178828|uc001bcr.3|RN186_HUMAN||Q53GE0|Q9NXI6||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20238343 rs1046548 A G . PASS FUNCOTATION=[OTUD3|hg19|chr1|20238343|20238343|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:20238343A>G|ENST00000375120.3|+|8|||||0.46633416458852867|AGCTTACCGCACACCGCTGAT||||||||||||||||||||||||||||||||||BC134416|NM_015207.1|NP_056022.1|HGNC:29038|OTU_%20_deubiquitinase_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"OTU_%20_domain_%20_containing_%20_3"|KIAA0459_%2C__%20_DUBA4||1p36.13|2014-11-19||2014-02-24|AB007928||23252|ENSG00000169914|9455484_%2C__%20_23827681||669|OTU_%20_domain_%20_containing|CCDS41279|OTTHUMG00000002696|23252|611758|NM_015207|Q5T2D3|ENSG00000169914|uc001bcs.5|OTUD3_HUMAN||O75047|Q5T2D3|protein_%20_K11-linked_%20_deubiquitination_%20_(GO:0035871)_%7C_protein_%20_K6-linked_%20_deubiquitination_%20_(GO:0044313)||ubiquitin-specific_%20_protease_%20_activity_%20_(GO:0004843)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20301964 rs11677 G A . PASS FUNCOTATION=[PLA2G2A|hg19|chr1|20301964|20301964|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:20301964G>A|ENST00000375111.3|-|6|||||0.5062344139650873|GAGACCCCCCGGAGTACAGCT|PLA2G2A_ENST00000400520.3_THREE_PRIME_UTR/PLA2G2A_ENST00000496748.1_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||M22431|NM_001161727.1|NP_001155199.1|HGNC:9031|phospholipase_%20_A2_%20_group_%20_IIA|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PLA2B_%2C__%20_PLA2L|"phospholipase_%20_A2_%2C__%20_group_%20_IIA_%20_(platelets_%2C__%20_synovial_%20_fluid)"|||1p36.13|2016-10-05||2015-11-18|BC005919|3.1.1.4|5320|ENSG00000188257|8838795|NM_000300|467|Phospholipases|CCDS201|OTTHUMG00000002699|5320|172411|NM_000300|P14555|ENSG00000188257|uc001bcv.4|PA2GA_HUMAN|Diclofenac(DB00586)_%7C_Ginkgo_%20_biloba(DB01381)_%7C_Indomethacin(DB00328)_%7C_Suramin(DB04786)|A8K5I7_%7C_Q6DN24_%7C_Q6IBD9_%7C_Q9UCD2|P14555|defense_%20_response_%20_to_%20_Gram-positive_%20_bacterium_%20_(GO:0050830)_%7C_glycerophospholipid_%20_biosynthetic_%20_process_%20_(GO:0046474)_%7C_lipid_%20_catabolic_%20_process_%20_(GO:0016042)_%7C_low-density_%20_lipoprotein_%20_particle_%20_remodeling_%20_(GO:0034374)_%7C_negative_%20_regulation_%20_of_%20_epithelial_%20_cell_%20_proliferation_%20_(GO:0050680)_%7C_phosphatidic_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0006654)_%7C_phosphatidic_%20_acid_%20_metabolic_%20_process_%20_(GO:0046473)_%7C_phosphatidylcholine_%20_acyl-chain_%20_remodeling_%20_(GO:0036151)_%7C_phosphatidylethanolamine_%20_acyl-chain_%20_remodeling_%20_(GO:0036152)_%7C_phosphatidylglycerol_%20_acyl-chain_%20_remodeling_%20_(GO:0036148)_%7C_phosphatidylinositol_%20_acyl-chain_%20_remodeling_%20_(GO:0036149)_%7C_phosphatidylserine_%20_acyl-chain_%20_remodeling_%20_(GO:0036150)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_positive_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050729)_%7C_positive_%20_regulation_%20_of_%20_macrophage_%20_derived_%20_foam_%20_cell_%20_differentiation_%20_(GO:0010744)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)_%7C_secretory_%20_granule_%20_(GO:0030141)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_calcium-dependent_%20_phospholipase_%20_A2_%20_activity_%20_(GO:0047498)_%7C_phospholipase_%20_A2_%20_activity_%20_(GO:0004623)_%7C_phospholipid_%20_binding_%20_(GO:0005543)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20442070 indel.1397 CA C . PASS FUNCOTATION=[PLA2G2D|hg19|chr1|20442071|20442071|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:20442071delA|ENST00000375105.3|-|3|281|c.221delT|c.(220-222)ctgfs|p.L74fs|0.5635910224438903|CTGGGTCTTCAGGTGGTCATA||Melanoma(60_%3B_742_%20_1548_%20_31762_%20_39240)||||||||||||||||||||||||121|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_skin(31)|||||||EU447440|NM_012400.3|NP_036532.1|HGNC:9033|phospholipase_%20_A2_%20_group_%20_IID|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phospholipase_%20_A2_%2C__%20_group_%20_IID"|sPLA2S||1p36.12|2015-11-18||2015-11-18|AF112982|3.1.1.4|26279|ENSG00000117215|10455175||467|Phospholipases|CCDS203_%2C__%20_CCDS72721|OTTHUMG00000002701|26279|605630|NM_001271814|Q9UNK4|ENSG00000117215|uc001bcz.5|PA2GD_HUMAN||A8K2Z1_%7C_B1AEL9_%7C_Q9UK01|Q9UNK4|glycerophospholipid_%20_biosynthetic_%20_process_%20_(GO:0046474)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_lipid_%20_catabolic_%20_process_%20_(GO:0016042)_%7C_phosphatidic_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0006654)_%7C_phosphatidylcholine_%20_acyl-chain_%20_remodeling_%20_(GO:0036151)_%7C_phosphatidylethanolamine_%20_acyl-chain_%20_remodeling_%20_(GO:0036152)_%7C_phosphatidylglycerol_%20_acyl-chain_%20_remodeling_%20_(GO:0036148)_%7C_phosphatidylinositol_%20_acyl-chain_%20_remodeling_%20_(GO:0036149)_%7C_phosphatidylserine_%20_acyl-chain_%20_remodeling_%20_(GO:0036150)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_phospholipase_%20_A2_%20_activity_%20_(GO:0004623)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20520732 rs7542020 T C . PASS FUNCOTATION=[UBXN10|hg19|chr1|20520732|20520732|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:20520732T>C|ENST00000375099.3|+|2|||||0.4513715710723192|CAAACCTTCATGATAGGTTAC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98257|NM_152376.3|NP_689589.1|HGNC:26354|UBX_%20_domain_%20_protein_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|UBXD3|"UBX_%20_domain_%20_containing_%20_3"|FLJ25429||1p36.12|2016-10-05|2008-07-25|2008-07-25|AK058158||127733|ENSG00000162543|12477932|NM_152376|364|UBX_%20_domain_%20_containing|CCDS205|OTTHUMG00000002708|127733|616783|NM_152376|Q96LJ8|ENSG00000162543|uc001bdb.4|UBX10_HUMAN||Q5R386|Q96LJ8|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20570287 rs10916732 G T . PASS FUNCOTATION=[RP3-340N1.6|hg19|chr1|20570287|20570287|LINCRNA||SNP|G|G|T|g.chr1:20570287G>T|ENST00000435552.1|+|||c.e2-502G>T|||0.33665835411471323|TTGCCAAGAAGTGTTCTCTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20617419 rs12738826 T C . PASS FUNCOTATION=[VWA5B1|hg19|chr1|20617419|20617419|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:20617419T>C|ENST00000375079.2|+|1|||||0.6084788029925187|GCTATCGCAATGTGGGCATTG|VWA5B1_ENST00000289815.8_FIVE_PRIME_UTR/VWA5B1_ENST00000375083.4_FIVE_PRIME_UTR/VWA5B1_ENST00000289825.4_FIVE_PRIME_UTR|||||||||||||||||||||||||1|salivary_gland(1)|||||||BC101381|NM_001039500.2|NP_001034589.2|HGNC:26538|von_%20_Willebrand_%20_factor_%20_A_%20_domain_%20_containing_%20_5B1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32784||1p36.12|2014-11-19|||AK125833_%2C__%20_AK057346||127731|ENSG00000158816||XM_001722222||||OTTHUMG00000002835|127731||NM_001039500|Q5TIE3|ENSG00000158816|uc057cyt.1|VW5B1_HUMAN||A4IF35_%7C_A4IF36_%7C_Q3ZCM4_%7C_Q6ZUB4_%7C_Q96M71|Q5TIE3||extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20695831 rs1886740 T C . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20695831|20695831|LINCRNA||SNP|T|T|C|g.chr1:20695831T>C|ENST00000426428.1|-|||c.e10-4257A>G|||0.5511221945137157|CCCCAGTGAGTGGGAGCCAGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20701277 rs10159448 C T . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20701277|20701277|LINCRNA||SNP|C|C|T|g.chr1:20701277C>T|ENST00000426428.1|-|||c.e10+1046G>A|||0.38154613466334164|GTTGTATTCTCCAAGGACAAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20705117 rs10916779 C T . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20705117|20705117|LINCRNA||SNP|C|C|T|g.chr1:20705117C>T|ENST00000426428.1|-|||c.e8+192G>A|||0.48129675810473815|CAAGAACCACCGCATCCCCAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20717763 exm2250514 C A . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20717763|20717763|LINCRNA||SNP|C|C|A|g.chr1:20717763C>A|ENST00000426428.1|-|||c.e6-7213G>T|||0.48877805486284287|GTTACCCAGCCCTAAACCCAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20729212 rs879484 T C . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20729212|20729212|LINCRNA||SNP|T|T|C|g.chr1:20729212T>C|ENST00000426428.1|-|||c.e4+1732A>G|||0.49625935162094764|AGTCAGGAAGTATGCCCCTTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20733376 rs10753498 T C . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20733376|20733376|LINCRNA||SNP|T|T|C|g.chr1:20733376T>C|ENST00000426428.1|-|||c.e2+614A>G|||0.4837905236907731|AAATCTAAGATTCGACCCCTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20735361 rs7533344 G A . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20735361|20735361|LINCRNA||SNP|G|G|A|g.chr1:20735361G>A|ENST00000426428.1|-|||c.e2+2599C>T|||0.4513715710723192|GAAAACTCTCGGCAAACTCTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20735452 rs6426635 G A . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20735452|20735452|LINCRNA||SNP|G|G|A|g.chr1:20735452G>A|ENST00000426428.1|-|||c.e2+2690C>T|||0.43640897755610975|ACCAGGAAGGGCAAAGGTTAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20736532 rs10916790 C T . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20736532|20736532|LINCRNA||SNP|C|C|T|g.chr1:20736532C>T|ENST00000426428.1|-|||c.e2+3770G>A|||0.4912718204488778|AACCAACCATCGGAGGGACAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20740016 rs10799633 C A . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20740016|20740016|LINCRNA||SNP|C|C|A|g.chr1:20740016C>A|ENST00000426428.1|-|||c.e2+7254G>T|||0.5486284289276808|CAGACGGCATCACAGAGGGAA|RP4-749H3.2_ENST00000421114.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20750561 rs7537381 A G . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20750561|20750561|LINCRNA||SNP|A|A|G|g.chr1:20750561A>G|ENST00000426428.1|-|||c.e1-4516T>C|||0.30673316708229426|AGTAAACGAAAAAGATAATAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20826910 rs529974 G A . PASS FUNCOTATION=[MUL1|hg19|chr1|20826910|20826910|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:20826910G>A|ENST00000264198.3|-|4|||||0.5635910224438903|AGTCACACTCGCACTGATCTG||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||EU935008|NM_024544.2|NP_078820.2|HGNC:25762|mitochondrial_%20_E3_%20_ubiquitin_%20_protein_%20_ligase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf166|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_166"|FLJ12875_%2C__%20_MULAN_%2C__%20_RNF218_%2C__%20_MAPL_%2C__%20_GIDE|"ring_%20_finger_%20_protein_%20_218"_%2C__%20_"mitochondria-anchored_%20_protein_%20_ligase"_%2C__%20_"growth_%20_inhibition_%20_and_%20_death_%20_E3_%20_ligase"_%2C__%20_"mitochondrial_%20_ubiquitin_%20_ligase_%20_activator_%20_of_%20_NFKB_%20_1"|1p36.12|2014-11-18|2008-03-26|2010-09-17|BC014010||79594|ENSG00000090432|18591963_%2C__%20_12761501_%2C__%20_18213395_%2C__%20_18207745|NM_024544|58|Ring_%20_finger_%20_proteins|CCDS208|OTTHUMG00000002838|79594|612037|NM_024544|Q969V5|ENSG00000090432|uc001bdi.5|MUL1_HUMAN||B5M497_%7C_Q7Z431_%7C_Q9H9B5|Q969V5|activation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_(GO:0006919)_%7C_activation_%20_of_%20_JUN_%20_kinase_%20_activity_%20_(GO:0007257)_%7C_cellular_%20_response_%20_to_%20_exogenous_%20_dsRNA_%20_(GO:0071360)_%7C_mitochondrial_%20_fission_%20_(GO:0000266)_%7C_mitochondrion_%20_localization_%20_(GO:0051646)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_chemokine_%20_(C-C_%20_motif)_%20_ligand_%20_5_%20_production_%20_(GO:0071650)_%7C_negative_%20_regulation_%20_of_%20_defense_%20_response_%20_to_%20_virus_%20_by_%20_host_%20_(GO:0050689)_%7C_negative_%20_regulation_%20_of_%20_innate_%20_immune_%20_response_%20_(GO:0045824)_%7C_negative_%20_regulation_%20_of_%20_mitochondrial_%20_fusion_%20_(GO:0010637)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051898)_%7C_negative_%20_regulation_%20_of_%20_type_%20_I_%20_interferon-mediated_%20_signaling_%20_pathway_%20_(GO:0060339)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_positive_%20_regulation_%20_of_%20_mitochondrial_%20_fission_%20_(GO:0090141)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_sumoylation_%20_(GO:0033235)_%7C_protein_%20_stabilization_%20_(GO:0050821)_%7C_protein_%20_sumoylation_%20_(GO:0016925)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)_%7C_regulation_%20_of_%20_mitochondrial_%20_outer_%20_membrane_%20_permeabilization_%20_involved_%20_in_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1901028)|cytoplasm_%20_(GO:0005737)_%7C_integral_%20_component_%20_of_%20_mitochondrial_%20_outer_%20_membrane_%20_(GO:0031307)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)_%7C_peroxisome_%20_(GO:0005777)|identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)_%7C_SUMO_%20_ligase_%20_activity_%20_(GO:0019789)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20915507 kgp25087902 G A . PASS FUNCOTATION=[CDA|hg19|chr1|20915507|20915507|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:20915507G>A|ENST00000375071.3|+|1|||||0.6184538653366584|GAGAGCCTGCGGTCTGGCTGC|CDA_ENST00000461985.1_FIVE_PRIME_FLANK|Pancreas(74_%3B_49_%20_1356_%20_2772_%20_27818_%20_40529)||||||||||||||||||||||||754|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(664)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||S52873|NM_001785.2|NP_001776.1|HGNC:1712|cytidine_%20_deaminase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CDD||1p36.12|2016-10-05|||BC054036|3.5.4.5|978|ENSG00000158825|8422236_%2C__%20_9878810|NM_001785|||CCDS210|OTTHUMG00000002845|978|123920|NM_001785|P32320|ENSG00000158825|uc001bdk.4|CDD_HUMAN|Azacitidine(DB00928)_%7C_Capecitabine(DB01101)_%7C_Cytarabine(DB00987)_%7C_Gemcitabine(DB00441)||P32320|cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007166)_%7C_cytidine_%20_deamination_%20_(GO:0009972)_%7C_cytosine_%20_metabolic_%20_process_%20_(GO:0019858)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_nucleotide_%20_metabolic_%20_process_%20_(GO:0045980)_%7C_nucleobase-containing_%20_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0055086)_%7C_protein_%20_homotetramerization_%20_(GO:0051289)_%7C_pyrimidine_%20_nucleobase_%20_metabolic_%20_process_%20_(GO:0006206)_%7C_pyrimidine_%20_nucleoside_%20_salvage_%20_(GO:0043097)_%7C_pyrimidine-containing_%20_compound_%20_salvage_%20_(GO:0008655)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|cytidine_%20_deaminase_%20_activity_%20_(GO:0004126)_%7C_nucleoside_%20_binding_%20_(GO:0001882)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20915577 kgp25241726 G A . PASS FUNCOTATION=[CDA|hg19|chr1|20915577|20915577|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:20915577G>A|ENST00000375071.3|+|1|||||0.6159600997506235|CAGGCTGGCCGGAGCTCCTGT|CDA_ENST00000461985.1_FIVE_PRIME_FLANK|Pancreas(74_%3B_49_%20_1356_%20_2772_%20_27818_%20_40529)||||||||||||||||||||||||754|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(664)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||S52873|NM_001785.2|NP_001776.1|HGNC:1712|cytidine_%20_deaminase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CDD||1p36.12|2016-10-05|||BC054036|3.5.4.5|978|ENSG00000158825|8422236_%2C__%20_9878810|NM_001785|||CCDS210|OTTHUMG00000002845|978|123920|NM_001785|P32320|ENSG00000158825|uc001bdk.4|CDD_HUMAN|Azacitidine(DB00928)_%7C_Capecitabine(DB01101)_%7C_Cytarabine(DB00987)_%7C_Gemcitabine(DB00441)||P32320|cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007166)_%7C_cytidine_%20_deamination_%20_(GO:0009972)_%7C_cytosine_%20_metabolic_%20_process_%20_(GO:0019858)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_nucleotide_%20_metabolic_%20_process_%20_(GO:0045980)_%7C_nucleobase-containing_%20_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0055086)_%7C_protein_%20_homotetramerization_%20_(GO:0051289)_%7C_pyrimidine_%20_nucleobase_%20_metabolic_%20_process_%20_(GO:0006206)_%7C_pyrimidine_%20_nucleoside_%20_salvage_%20_(GO:0043097)_%7C_pyrimidine-containing_%20_compound_%20_salvage_%20_(GO:0008655)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|cytidine_%20_deaminase_%20_activity_%20_(GO:0004126)_%7C_nucleoside_%20_binding_%20_(GO:0001882)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20915590 kgp5980907 C T . PASS FUNCOTATION=[CDA|hg19|chr1|20915590|20915590|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:20915590C>T|ENST00000375071.3|+|1|||||0.6159600997506235|GCTCCTGTTTCCCGCTGCTCT|CDA_ENST00000461985.1_INTRON|Pancreas(74_%3B_49_%20_1356_%20_2772_%20_27818_%20_40529)||||||||||||||||||||||||754|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(664)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||S52873|NM_001785.2|NP_001776.1|HGNC:1712|cytidine_%20_deaminase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CDD||1p36.12|2016-10-05|||BC054036|3.5.4.5|978|ENSG00000158825|8422236_%2C__%20_9878810|NM_001785|||CCDS210|OTTHUMG00000002845|978|123920|NM_001785|P32320|ENSG00000158825|uc001bdk.4|CDD_HUMAN|Azacitidine(DB00928)_%7C_Capecitabine(DB01101)_%7C_Cytarabine(DB00987)_%7C_Gemcitabine(DB00441)||P32320|cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007166)_%7C_cytidine_%20_deamination_%20_(GO:0009972)_%7C_cytosine_%20_metabolic_%20_process_%20_(GO:0019858)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_nucleotide_%20_metabolic_%20_process_%20_(GO:0045980)_%7C_nucleobase-containing_%20_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0055086)_%7C_protein_%20_homotetramerization_%20_(GO:0051289)_%7C_pyrimidine_%20_nucleobase_%20_metabolic_%20_process_%20_(GO:0006206)_%7C_pyrimidine_%20_nucleoside_%20_salvage_%20_(GO:0043097)_%7C_pyrimidine-containing_%20_compound_%20_salvage_%20_(GO:0008655)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|cytidine_%20_deaminase_%20_activity_%20_(GO:0004126)_%7C_nucleoside_%20_binding_%20_(GO:0001882)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20945251 GA000375 C G . PASS FUNCOTATION=[CDA|hg19|chr1|20945251|20945251|THREE_PRIME_UTR||SNP|C|C|G|g.chr1:20945251C>G|ENST00000375071.3|+|4|||||0.5411471321695761|AGAACACCGCCGCCCCCTGCC|CDA_ENST00000461985.1_INTRON|Pancreas(74_%3B_49_%20_1356_%20_2772_%20_27818_%20_40529)||||||||||||||||||||||||754|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(664)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||S52873|NM_001785.2|NP_001776.1|HGNC:1712|cytidine_%20_deaminase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CDD||1p36.12|2016-10-05|||BC054036|3.5.4.5|978|ENSG00000158825|8422236_%2C__%20_9878810|NM_001785|||CCDS210|OTTHUMG00000002845|978|123920|NM_001785|P32320|ENSG00000158825|uc001bdk.4|CDD_HUMAN|Azacitidine(DB00928)_%7C_Capecitabine(DB01101)_%7C_Cytarabine(DB00987)_%7C_Gemcitabine(DB00441)||P32320|cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007166)_%7C_cytidine_%20_deamination_%20_(GO:0009972)_%7C_cytosine_%20_metabolic_%20_process_%20_(GO:0019858)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_nucleotide_%20_metabolic_%20_process_%20_(GO:0045980)_%7C_nucleobase-containing_%20_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0055086)_%7C_protein_%20_homotetramerization_%20_(GO:0051289)_%7C_pyrimidine_%20_nucleobase_%20_metabolic_%20_process_%20_(GO:0006206)_%7C_pyrimidine_%20_nucleoside_%20_salvage_%20_(GO:0043097)_%7C_pyrimidine-containing_%20_compound_%20_salvage_%20_(GO:0008655)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|cytidine_%20_deaminase_%20_activity_%20_(GO:0004126)_%7C_nucleoside_%20_binding_%20_(GO:0001882)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20945252 GA018656 G C . PASS FUNCOTATION=[CDA|hg19|chr1|20945252|20945252|THREE_PRIME_UTR||SNP|G|G|C|g.chr1:20945252G>C|ENST00000375071.3|+|4|||||0.5411471321695761|GAACACCGCCGCCCCCTGCCC|CDA_ENST00000461985.1_INTRON|Pancreas(74_%3B_49_%20_1356_%20_2772_%20_27818_%20_40529)||||||||||||||||||||||||754|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(664)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||S52873|NM_001785.2|NP_001776.1|HGNC:1712|cytidine_%20_deaminase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CDD||1p36.12|2016-10-05|||BC054036|3.5.4.5|978|ENSG00000158825|8422236_%2C__%20_9878810|NM_001785|||CCDS210|OTTHUMG00000002845|978|123920|NM_001785|P32320|ENSG00000158825|uc001bdk.4|CDD_HUMAN|Azacitidine(DB00928)_%7C_Capecitabine(DB01101)_%7C_Cytarabine(DB00987)_%7C_Gemcitabine(DB00441)||P32320|cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007166)_%7C_cytidine_%20_deamination_%20_(GO:0009972)_%7C_cytosine_%20_metabolic_%20_process_%20_(GO:0019858)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_nucleotide_%20_metabolic_%20_process_%20_(GO:0045980)_%7C_nucleobase-containing_%20_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0055086)_%7C_protein_%20_homotetramerization_%20_(GO:0051289)_%7C_pyrimidine_%20_nucleobase_%20_metabolic_%20_process_%20_(GO:0006206)_%7C_pyrimidine_%20_nucleoside_%20_salvage_%20_(GO:0043097)_%7C_pyrimidine-containing_%20_compound_%20_salvage_%20_(GO:0008655)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|cytidine_%20_deaminase_%20_activity_%20_(GO:0004126)_%7C_nucleoside_%20_binding_%20_(GO:0001882)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20976994 indel.1467 TG T . PASS FUNCOTATION=[PINK1|hg19|chr1|20976995|20976995|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:20976995delG|ENST00000321556.4|+|8|1650|c.1557delG|c.(1555-1557)ctgfs|p.K520fs|0.5112219451371571|TTCTAGCCCTGAAGAATCTGA|PINK1-AS_ENST00000451424.1_RNA/PINK1_ENST00000492302.1_INTRON|Esophageal_%20_Squamous(145_%3B_853_%20_1803_%20_8146_%20_34412_%20_35011)||||||||||||||||||||||||521|biliary_tract(2)_%7C_breast(27)_%7C_central_nervous_system(102)_%7C_haematopoietic_and_lymphoid_tissue(54)_%7C_kidney(46)_%7C_large_intestine(71)_%7C_lung(53)_%7C_ovary(52)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||BC028215|NM_032409.2|NP_115785.1|HGNC:14581|PTEN_%20_induced_%20_putative_%20_kinase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PARK6|"Parkinson_%20_disease_%20_(autosomal_%20_recessive)_%20_6"|||1p36.12|2014-11-18|||AB053323||65018|ENSG00000158828|11494141_%2C__%20_15349860|NM_032409|672|Parkinson_%20_disease_%20_associated_%20_genes|CCDS211|OTTHUMG00000002841|65018|608309|NM_032409|Q9BXM7|ENSG00000158828|uc001bdm.3|PINK1_HUMAN||Q8N6T9_%7C_Q8NBU3_%7C_Q96DE4|Q9BXM7|activation_%20_of_%20_protein_%20_kinase_%20_B_%20_activity_%20_(GO:0032148)_%7C_cell_%20_death_%20_(GO:0008219)_%7C_cellular_%20_response_%20_to_%20_hypoxia_%20_(GO:0071456)_%7C_cellular_%20_response_%20_to_%20_toxic_%20_substance_%20_(GO:0097237)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_mitochondrion_%20_degradation_%20_(GO:0000422)_%7C_mitochondrion_%20_organization_%20_(GO:0007005)_%7C_negative_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0010629)_%7C_negative_%20_regulation_%20_of_%20_hydrogen_%20_peroxide-induced_%20_neuron_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1903384)_%7C_negative_%20_regulation_%20_of_%20_JNK_%20_cascade_%20_(GO:0046329)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_cell_%20_death_%20_(GO:1903202)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1902176)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_neuron_%20_death_%20_(GO:1903204)_%7C_negative_%20_regulation_%20_of_%20_reactive_%20_oxygen_%20_species_%20_metabolic_%20_process_%20_(GO:2000378)_%7C_peptidyl-serine_%20_autophosphorylation_%20_(GO:0036289)_%7C_peptidyl-serine_%20_phosphorylation_%20_(GO:0018105)_%7C_phosphorylation_%20_(GO:0016310)_%7C_positive_%20_regulation_%20_of_%20_dopamine_%20_secretion_%20_(GO:0033603)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_positive_%20_regulation_%20_of_%20_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:1902958)_%7C_positive_%20_regulation_%20_of_%20_peptidase_%20_activity_%20_(GO:0010952)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051897)_%7C_positive_%20_regulation_%20_of_%20_release_%20_of_%20_cytochrome_%20_c_%20_from_%20_mitochondria_%20_(GO:0090200)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_transmission_%2C__%20_dopaminergic_%20_(GO:0032226)_%7C_positive_%20_regulation_%20_of_%20_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0051443)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)_%7C_regulation_%20_of_%20_mitochondrial_%20_membrane_%20_potential_%20_(GO:0051881)_%7C_regulation_%20_of_%20_mitochondrion_%20_degradation_%20_(GO:1903146)_%7C_regulation_%20_of_%20_protein_%20_complex_%20_assembly_%20_(GO:0043254)_%7C_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031396)_%7C_regulation_%20_of_%20_reactive_%20_oxygen_%20_species_%20_metabolic_%20_process_%20_(GO:2000377)_%7C_regulation_%20_of_%20_synaptic_%20_vesicle_%20_transport_%20_(GO:1902803)_%7C_response_%20_to_%20_oxidative_%20_stress_%20_(GO:0006979)_%7C_response_%20_to_%20_stress_%20_(GO:0006950)_%7C_TORC2_%20_signaling_%20_(GO:0038203)_%7C_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0006511)|astrocyte_%20_projection_%20_(GO:0097449)_%7C_axon_%20_(GO:0030424)_%7C_cell_%20_body_%20_(GO:0044297)_%7C_chromatin_%20_(GO:0000785)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_cytosol_%20_(GO:0005829)_%7C_integral_%20_component_%20_of_%20_mitochondrial_%20_outer_%20_membrane_%20_(GO:0031307)_%7C_Lewy_%20_body_%20_(GO:0097413)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_intermembrane_%20_space_%20_(GO:0005758)_%7C_mitochondrial_%20_outer_%20_membrane_%20_(GO:0005741)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)|ATP_%20_binding_%20_(GO:0005524)_%7C_C3HC4-type_%20_RING_%20_finger_%20_domain_%20_binding_%20_(GO:0055131)_%7C_calcium-dependent_%20_protein_%20_kinase_%20_activity_%20_(GO:0010857)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_magnesium_%20_ion_%20_binding_%20_(GO:0000287)_%7C_peptidase_%20_activator_%20_activity_%20_(GO:0016504)_%7C_protease_%20_binding_%20_(GO:0002020)_%7C_protein_%20_kinase_%20_B_%20_binding_%20_(GO:0043422)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20978058 exm2264808 G A . PASS FUNCOTATION=[PINK1-AS|hg19|chr1|20978058|20978058|RNA||SNP|G|G|A|g.chr1:20978058G>A|ENST00000451424.1|-|||c.e1-628C>T|||0.4239401496259352|CCATTTCAGTGATTCCCACCC|||||||||||||||||||||||||||||||||||||HGNC:38872|PINK1_%20_antisense_%20_RNA|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|PINK1-AS1|"PINK1_%20_antisense_%20_RNA_%20_1_%20_(non-protein_%20_coding)"_%2C__%20_"PINK1_%20_antisense_%20_RNA_%20_(non-protein_%20_coding)"|FLJ00387_%2C__%20_PINK1AS_%2C__%20_naPINK1||1p36.12|2014-09-24|2012-02-02|2012-08-15|AK090466|||ENSG00000117242|17362513||788|Long_%20_non-coding_%20_RNAs_%20_(published)||OTTHUMG00000002840|100861548||NR_046507||ENSG00000117242|uc031tru.1|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20978058 rs650616 G A . PASS FUNCOTATION=[PINK1-AS|hg19|chr1|20978058|20978058|RNA||SNP|G|G|A|g.chr1:20978058G>A|ENST00000451424.1|-|||c.e1-628C>T|||0.4239401496259352|CCATTTCAGTGATTCCCACCC|||||||||||||||||||||||||||||||||||||HGNC:38872|PINK1_%20_antisense_%20_RNA|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|PINK1-AS1|"PINK1_%20_antisense_%20_RNA_%20_1_%20_(non-protein_%20_coding)"_%2C__%20_"PINK1_%20_antisense_%20_RNA_%20_(non-protein_%20_coding)"|FLJ00387_%2C__%20_PINK1AS_%2C__%20_naPINK1||1p36.12|2014-09-24|2012-02-02|2012-08-15|AK090466|||ENSG00000117242|17362513||788|Long_%20_non-coding_%20_RNAs_%20_(published)||OTTHUMG00000002840|100861548||NR_046507||ENSG00000117242|uc031tru.1|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20987879 exm27256 A C . PASS FUNCOTATION=[DDOST|hg19|chr1|20987879|20987879|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:20987879A>C|ENST00000602624.2|-|1|||||0.6508728179551122|GCACGTGCACACCGGAAGTAC|DDOST_ENST00000375048.3_MISSENSE_p.C6G/DDOST_ENST00000415136.2_MISSENSE_p.C6G/DDOST_ENST00000477229.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||D89060|||HGNC:2728|dolichyl-diphosphooligosaccharide--protein_%20_glycosyltransferase_%20_non-catalytic_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dolichyl-diphosphooligosaccharide-protein_%20_glycosyltransferase"|OST_%2C__%20_KIAA0115_%2C__%20_OST48_%2C__%20_WBP1_%2C__%20_GATD6|"oligosaccharyltransferase_%20_subunit_%20_48"_%2C__%20_"advanced_%20_glycation_%20_end-product_%20_receptor_%20_1"|1p36.12|2017-03-16||2016-03-01|D29643||1650|ENSG00000244038|9367678|NM_005216|445_%7C_1408|Oligosaccharyltransferase_%20_complex_%20_subunits_%7C_Glutamine_%20_amidotransferase_%20_like_%20_class_%20_1_%20_domain_%20_containing|CCDS212|OTTHUMG00000002844|1650|602202|NM_005216|P39656|ENSG00000244038|uc001bdo.1|OST48_HUMAN||B2RDQ4_%7C_B4DJE3_%7C_B4DLI2_%7C_O43244_%7C_Q5VWA5_%7C_Q8NI93_%7C_Q9BUI2|P39656|cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)_%7C_protein_%20_glycosylation_%20_(GO:0006486)_%7C_protein_%20_N-linked_%20_glycosylation_%20_(GO:0006487)_%7C_protein_%20_N-linked_%20_glycosylation_%20_via_%20_asparagine_%20_(GO:0018279)_%7C_response_%20_to_%20_cytokine_%20_(GO:0034097)_%7C_SRP-dependent_%20_cotranslational_%20_protein_%20_targeting_%20_to_%20_membrane_%20_(GO:0006614)_%7C_T_%20_cell_%20_activation_%20_(GO:0042110)_%7C_translation_%20_(GO:0006412)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_membrane_%20_(GO:0016020)_%7C_oligosaccharyltransferase_%20_complex_%20_(GO:0008250)_%7C_protein_%20_complex_%20_(GO:0043234)|dolichyl-diphosphooligosaccharide-protein_%20_glycotransferase_%20_activity_%20_(GO:0004579)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 20998552 indel.1474 CAG C . PASS FUNCOTATION=[KIF17|hg19|chr1|20998553|20998554|FRAME_SHIFT_DEL||DEL|AG|AG|-|g.chr1:20998553_20998554delAG|ENST00000247986.2|-|12|2912_2913|c.2599_2600delCT|c.(2599-2601)ctgfs|p.L867fs|0.5696517412935324|CCTGCGAATCAGGGGCTGCACC|KIF17_ENST00000400463.3_FRAME_SHIFT_DEL_p.L867fs/KIF17_ENST00000375044.1_FRAME_SHIFT_DEL_p.L767fs/KIF17_ENST00000490034.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||BC065927|||HGNC:19167|kinesin_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA1405_%2C__%20_KIF3X_%2C__%20_KIF17B_%2C__%20_OSM-3_%2C__%20_KLP-2|"kinesin-like_%20_protein_%20_KIF17"_%2C__%20_"KIF3-related_%20_motor_%20_protein"_%2C__%20_"KIF17_%20_variant_%20_protein"|1p36.12|2016-10-05|||AB037826||57576|ENSG00000117245|10846156|NM_020816|622|Kinesins|CCDS213_%2C__%20_CCDS44079_%2C__%20_CCDS72722|OTTHUMG00000002863|57576|605037|NM_001122819|Q9P2E2|ENSG00000117245|uc001bdr.6|KIF17_HUMAN||A2A3Q7_%7C_A2A3Q8_%7C_O95077_%7C_Q53YS6_%7C_Q5VWA9_%7C_Q6GSA8_%7C_Q8N411|Q9P2E2|ATP_%20_catabolic_%20_process_%20_(GO:0006200)_%7C_cell_%20_projection_%20_organization_%20_(GO:0030030)_%7C_metabolic_%20_process_%20_(GO:0008152)_%7C_microtubule-based_%20_movement_%20_(GO:0007018)_%7C_neurogenesis_%20_(GO:0022008)_%7C_protein_%20_complex_%20_localization_%20_(GO:0031503)_%7C_protein_%20_transport_%20_(GO:0015031)_%7C_vesicle-mediated_%20_transport_%20_(GO:0016192)|cytoplasm_%20_(GO:0005737)_%7C_intraciliary_%20_transport_%20_particle_%20_B_%20_(GO:0030992)_%7C_kinesin_%20_complex_%20_(GO:0005871)_%7C_microtubule_%20_(GO:0005874)|ATP_%20_binding_%20_(GO:0005524)_%7C_ATPase_%20_activity_%20_(GO:0016887)_%7C_plus-end-directed_%20_microtubule_%20_motor_%20_activity_%20_(GO:0008574)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 21047725 rs659046 A G . PASS FUNCOTATION=[SH2D5|hg19|chr1|21047725|21047725|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:21047725A>G|ENST00000375031.1|-|9|||||0.5810473815461347|TCAGATACATATGAGAAACAG|KIF17_ENST00000247986.2_FIVE_PRIME_FLANK/KIF17_ENST00000375044.1_FIVE_PRIME_FLANK/KIF17_ENST00000400463.3_FIVE_PRIME_FLANK/SH2D5_ENST00000460804.1_INTRON|||||||||||||||||||||||||136|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_pancreas(22)|||||||CH471134|NM_001103160.1|NP_001096630.1|HGNC:28819|SH2_%20_domain_%20_containing_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.12|2014-11-19|||AK124869_%2C__%20_AK123236||400745|ENSG00000189410||XM_375698|||CCDS41280_%2C__%20_CCDS44080|OTTHUMG00000002620|400745||NM_001103160|Q6ZV89|ENSG00000189410|uc009vpy.2|SH2D5_HUMAN||B7Z3W3_%7C_Q5SSJ2|Q6ZV89|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 21544601 rs3026913 C T . PASS FUNCOTATION=[ECE1|hg19|chr1|21544601|21544601|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:21544601C>T|ENST00000415912.2|-|19|||||0.6184538653366584|GAGTCTGCTACTGGAGAAGCT||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(1)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||Z35307|NM_001113348.1|NP_001106819.1|HGNC:3146|endothelin_%20_converting_%20_enzyme_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ECE||||1p36.12|2016-10-05|||D49471||1889|ENSG00000117298|7805846_%2C__%20_7864876_%2C__%20_17592116|NM_001397|1439|M13_%20_metallopeptidases|CCDS215_%2C__%20_CCDS44081_%2C__%20_CCDS44082_%2C__%20_CCDS44083|OTTHUMG00000002625|1889|600423|NM_001113347|P42892|ENSG00000117298|uc001bek.3|ECE1_HUMAN||A8K3P1_%7C_B4E291_%7C_Q14217_%7C_Q17RN5_%7C_Q2Z2K8_%7C_Q58GE7_%7C_Q5THM5_%7C_Q5THM7_%7C_Q5THM8_%7C_Q9UJQ6_%7C_Q9UPF4_%7C_Q9UPM4_%7C_Q9Y501|P42892|bradykinin_%20_catabolic_%20_process_%20_(GO:0010815)_%7C_calcitonin_%20_catabolic_%20_process_%20_(GO:0010816)_%7C_ear_%20_development_%20_(GO:0043583)_%7C_embryonic_%20_digit_%20_morphogenesis_%20_(GO:0042733)_%7C_endothelin_%20_maturation_%20_(GO:0034959)_%7C_heart_%20_development_%20_(GO:0007507)_%7C_hormone_%20_catabolic_%20_process_%20_(GO:0042447)_%7C_peptide_%20_hormone_%20_processing_%20_(GO:0016486)_%7C_pharyngeal_%20_system_%20_development_%20_(GO:0060037)_%7C_positive_%20_regulation_%20_of_%20_receptor_%20_recycling_%20_(GO:0001921)_%7C_protein_%20_processing_%20_(GO:0016485)_%7C_regulation_%20_of_%20_systemic_%20_arterial_%20_blood_%20_pressure_%20_by_%20_endothelin_%20_(GO:0003100)_%7C_regulation_%20_of_%20_vasoconstriction_%20_(GO:0019229)_%7C_substance_%20_P_%20_catabolic_%20_process_%20_(GO:0010814)|early_%20_endosome_%20_(GO:0005769)_%7C_endosome_%20_(GO:0005768)_%7C_external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intrinsic_%20_component_%20_of_%20_endosome_%20_membrane_%20_(GO:0031302)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_membrane_%20_(GO:0016020)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)_%7C_Weibel-Palade_%20_body_%20_(GO:0033093)|endopeptidase_%20_activity_%20_(GO:0004175)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_peptide_%20_hormone_%20_binding_%20_(GO:0017046)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 21742614 rs10916982 T C . PASS FUNCOTATION=[RP11-293F5.1|hg19|chr1|21742614|21742614|LINCRNA||SNP|T|T|C|g.chr1:21742614T>C|ENST00000444647.1|+|||c.e1+186T>C|||0.5311720698254364|CCCTGAGAGATCCCAACAGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 21771685 variant.1499 C T . PASS FUNCOTATION=[NBPF3|hg19|chr1|21771685|21771685|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:21771685C>T|ENST00000318220.6|+|2|||||0.5211970074812967|TGGTGTGGGCCGACATCAAGA|NBPF3_ENST00000342104.5_NONSENSE_p.R36*/NBPF3_ENST00000318249.5_NONSENSE_p.R36*/NBPF3_ENST00000454000.2_NONSENSE_p.R36*/NBPF3_ENST00000478653.2_INTRON|||||||||||||||||||||||||211|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||BC024011|||HGNC:25076|NBPF_%20_member_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"neuroblastoma_%20_breakpoint_%20_family_%2C__%20_member_%20_3"|AE2||1p36.12|2017-03-01||2017-03-01|BC024011||84224|ENSG00000142794|11230166_%2C__%20_16079250|NM_032264|662|NBPF_%20_members|CCDS216_%2C__%20_CCDS57976_%2C__%20_CCDS57977_%2C__%20_CCDS81275|OTTHUMG00000002944|84224|612992|NM_001256416|Q9H094|ENSG00000142794|uc001ber.5|NBPF3_HUMAN||A8K965_%7C_B4DSP2_%7C_I3L0I8_%7C_Q3BBW1_%7C_Q5VTG2_%7C_Q5VTG3_%7C_Q5VTG4_%7C_Q8IX78_%7C_Q8ND86_%7C_Q8TC96|Q9H094||cytoplasm_%20_(GO:0005737)|||||true|false||false|false|||false|false|false|NBPF3:84224|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|758505231|21771685|false|false|0|false|0|false||false|false|true|SNV|false|0x050000400605000002000100|1|false|144|rs758505231|] +1 21795274 indel.1502 TC T . PASS FUNCOTATION=[NBPF3|hg19|chr1|21795275|21795275|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:21795275delC|ENST00000318220.6|+|6|1107|c.60delC|c.(58-60)atcfs|p.N21fs|0.45885286783042395|TTCTAGAAATCAACAAGAAAT|NBPF3_ENST00000342104.5_FRAME_SHIFT_DEL_p.N77fs/NBPF3_ENST00000318249.5_FRAME_SHIFT_DEL_p.N77fs/NBPF3_ENST00000454000.2_INTRON|||||||||||||||||||||||||211|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||BC024011|||HGNC:25076|NBPF_%20_member_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"neuroblastoma_%20_breakpoint_%20_family_%2C__%20_member_%20_3"|AE2||1p36.12|2017-03-01||2017-03-01|BC024011||84224|ENSG00000142794|11230166_%2C__%20_16079250|NM_032264|662|NBPF_%20_members|CCDS216_%2C__%20_CCDS57976_%2C__%20_CCDS57977_%2C__%20_CCDS81275|OTTHUMG00000002944|84224|612992|NM_001256416|Q9H094|ENSG00000142794|uc001ber.5|NBPF3_HUMAN||A8K965_%7C_B4DSP2_%7C_I3L0I8_%7C_Q3BBW1_%7C_Q5VTG2_%7C_Q5VTG3_%7C_Q5VTG4_%7C_Q8IX78_%7C_Q8ND86_%7C_Q8TC96|Q9H094||cytoplasm_%20_(GO:0005737)|||||true|false||false|false|||false|false|false|NBPF3:84224|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|747818094|21795275|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|DIV|true|0x050000081205040402000200|1|false|144|rs747818094|] +1 21800057 indel.1508 G GC . PASS FUNCOTATION=[NBPF3|hg19|chr1|21800057|21800058|FRAME_SHIFT_INS||INS|-|-|C|g.chr1:21800057_21800058insC|ENST00000318220.6|+|10|1799|c.751_752insC|c.(751-753)gatfs|p.D251fs|0.4525|GAATGGTTGGATGCTGTATG|NBPF3_ENST00000342104.5_FRAME_SHIFT_INS_p.D307fs/NBPF3_ENST00000318249.5_FRAME_SHIFT_INS_p.D307fs/NBPF3_ENST00000454000.2_FRAME_SHIFT_INS_p.D237fs|||||||||||||||||||||||||211|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||BC024011|||HGNC:25076|NBPF_%20_member_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"neuroblastoma_%20_breakpoint_%20_family_%2C__%20_member_%20_3"|AE2||1p36.12|2017-03-01||2017-03-01|BC024011||84224|ENSG00000142794|11230166_%2C__%20_16079250|NM_032264|662|NBPF_%20_members|CCDS216_%2C__%20_CCDS57976_%2C__%20_CCDS57977_%2C__%20_CCDS81275|OTTHUMG00000002944|84224|612992|NM_001256416|Q9H094|ENSG00000142794|uc001ber.5|NBPF3_HUMAN||A8K965_%7C_B4DSP2_%7C_I3L0I8_%7C_Q3BBW1_%7C_Q5VTG2_%7C_Q5VTG3_%7C_Q5VTG4_%7C_Q8IX78_%7C_Q8ND86_%7C_Q8TC96|Q9H094||cytoplasm_%20_(GO:0005737)|||||true|false||false|false|||false|false|false|NBPF3:84224|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|747645859|21800057|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs747645859|] +1 21894604 indel.1522 TG T . PASS FUNCOTATION=[ALPL|hg19|chr1|21894605|21894605|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:21894605delG|ENST00000374840.3|+|7|906|c.657delG|c.(655-657)atgfs|p.G221fs|0.5685785536159601|AGGTGATCATGGGGGGTGGCC|ALPL_ENST00000374832.1_FRAME_SHIFT_DEL_p.G221fs/ALPL_ENST00000425315.2_FRAME_SHIFT_DEL_p.G221fs/ALPL_ENST00000540617.1_FRAME_SHIFT_DEL_p.G166fs/ALPL_ENST00000539907.1_FRAME_SHIFT_DEL_p.G144fs/ALPL_ENST00000374830.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(45)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X14174|NM_000478.4|NP_000469.3|HGNC:438|alkaline_%20_phosphatase_%2C__%20_liver/bone/kidney|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HOPS||TNSALP||1p36.12|2014-11-18|||BC021289|3.1.3.1|249|ENSG00000162551|3532105_%2C__%20_3446011|NM_000478|1072|Alkaline_%20_phosphatases|CCDS217_%2C__%20_CCDS53274_%2C__%20_CCDS53275|OTTHUMG00000002949|249|171760|NM_000478|P05186|ENSG00000162551|uc001bet.4|PPBT_HUMAN|Amifostine(DB01143)_%7C_Fospropofol(DB06716)|A1A4E7_%7C_B2RMP8_%7C_B7Z387_%7C_B7Z4Y6_%7C_O75090_%7C_Q2TAI7_%7C_Q59EJ7_%7C_Q5BKZ5_%7C_Q5VTG5_%7C_Q6NZI8_%7C_Q8WU32_%7C_Q9UBK0|P05186|cellular_%20_response_%20_to_%20_organic_%20_cyclic_%20_compound_%20_(GO:0071407)_%7C_cementum_%20_mineralization_%20_(GO:0071529)_%7C_developmental_%20_process_%20_involved_%20_in_%20_reproduction_%20_(GO:0003006)_%7C_endochondral_%20_ossification_%20_(GO:0001958)_%7C_osteoblast_%20_differentiation_%20_(GO:0001649)_%7C_response_%20_to_%20_antibiotic_%20_(GO:0046677)_%7C_response_%20_to_%20_glucocorticoid_%20_(GO:0051384)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)_%7C_response_%20_to_%20_vitamin_%20_D_%20_(GO:0033280)_%7C_skeletal_%20_system_%20_development_%20_(GO:0001501)|anchored_%20_component_%20_of_%20_membrane_%20_(GO:0031225)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|alkaline_%20_phosphatase_%20_activity_%20_(GO:0004035)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_pyrophosphatase_%20_activity_%20_(GO:0016462)||||true|false||false|false|||false|false|false|ALPL:249|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|769948289|21894605|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs769948289|] +1 21914362 rs1256279 C T . PASS FUNCOTATION=[RP11-63N8.3|hg19|chr1|21914362|21914362|RNA||SNP|C|C|T|g.chr1:21914362C>T|ENST00000457706.1|+|||c.e1+780C>T|||0.5910224438902744|GGGAGGAAGGCGGCCCAGGAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 21976289 exm28371 C T . PASS FUNCOTATION=[RAP1GAP|hg19|chr1|21976289|21976289|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:21976289C>T|ENST00000374765.4|-|2|||||0.5785536159600998|ACTTGTCCACCCTGAAACACA|RAP1GAP_ENST00000542643.2_FIVE_PRIME_UTR/RAP1GAP_ENST00000290101.4_SPLICE_SITE_p.G15G/RAP1GAP_ENST00000374757.3_SPLICE_SITE|||||||||||||||||||||||||200|breast(48)_%7C_central_nervous_system(22)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)|||||||M64788|NM_002885.2|NP_002876.2|HGNC:9858|RAP1_%20_GTPase_%20_activating_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|RAP1GA1|"RAP1_%2C__%20_GTPase_%20_activating_%20_protein_%20_1"|KIAA0474_%2C__%20_RAP1GAP1_%2C__%20_RAP1GAPII||1p36.12|2016-10-05|2006-04-12|2006-04-12|BC054490||5909|ENSG00000076864|1904317|NM_002885|||CCDS218_%2C__%20_CCDS53276_%2C__%20_CCDS53277_%2C__%20_CCDS81276|OTTHUMG00000007513|5909|600278|NM_001145657|P47736|ENSG00000076864|uc001bex.4|RPGP1_HUMAN||J3QSS6_%7C_O75062_%7C_Q5T3S9_%7C_Q5T3T4_%7C_Q7Z5S8_%7C_Q9UQ51|P47736|GTP_%20_catabolic_%20_process_%20_(GO:0006184)_%7C_positive_%20_regulation_%20_of_%20_Rap_%20_GTPase_%20_activity_%20_(GO:0032854)_%7C_regulation_%20_of_%20_Ras_%20_GTPase_%20_activity_%20_(GO:0032318)_%7C_signal_%20_transduction_%20_(GO:0007165)|cytosol_%20_(GO:0005829)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_membrane_%20_(GO:0016020)|GTPase_%20_activator_%20_activity_%20_(GO:0005096)_%7C_GTPase_%20_activity_%20_(GO:0003924)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_Rap_%20_GTPase_%20_activator_%20_activity_%20_(GO:0046582)_%7C_Ras_%20_GTPase_%20_binding_%20_(GO:0017016)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 22354866 rs2473295 T C . PASS FUNCOTATION=[LINC00339|hg19|chr1|22354866|22354866|LINCRNA||SNP|T|T|C|g.chr1:22354866T>C|ENST00000416769.1|+|||c.e2-1907T>C|||0.4488778054862843|TGGGGCTGTATCCTAATGTGA|RP1-224A6.3_ENST00000455966.1_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||HGNC:25011|long_%20_intergenic_%20_non-protein_%20_coding_%20_RNA_%20_339|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|NCRNA00339|"non-protein_%20_coding_%20_RNA_%20_339"|HSPC157||1p36.12|2014-11-18|2011-08-10|2011-08-10|||29092|ENSG00000218510|11042152|||||OTTHUMG00000002757|29092||NR_023918||ENSG00000218510|uc284mnl.1|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 22855441 rs12137696 C T . PASS FUNCOTATION=[ZBTB40|hg19|chr1|22855441|22855441|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:22855441C>T|ENST00000375647.4|+|18|||||0.5187032418952618|ATCAGATGCCCTCTGGCCCAT|ZBTB40_ENST00000404138.1_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||AL358788|NM_014870.3|NP_055685.3|HGNC:29045|zinc_%20_finger_%20_and_%20_BTB_%20_domain_%20_containing_%20_40|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA0478_%2C__%20_ZNF923||1p36.12|2016-10-05|||AB007947||9923|ENSG00000184677||NM_014870|861_%7C_28|BTB_%20_domain_%20_containing_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS224_%2C__%20_CCDS81278|OTTHUMG00000002897|9923|612106|NM_001083621|Q9NUA8|ENSG00000184677|uc001bft.2|ZBT40_HUMAN||O75066_%7C_Q5TFU5_%7C_Q8N1R1|Q9NUA8|bone_%20_mineralization_%20_(GO:0030282)_%7C_cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 23435538 rs16827981 G A . PASS FUNCOTATION=[LUZP1|hg19|chr1|23435538|23435538|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr1:23435538G>A|ENST00000302291.4|-|3|||||0.4339152119700748|CAAGCTTTCCGTCAATACTTC|LUZP1_ENST00000314174.5_INTRON/LUZP1_ENST00000418342.1_DE_NOVO_START_IN_FRAME/LUZP1_ENST00000374623.3_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC051733|||HGNC:14985|leucine_%20_zipper_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||LUZP||1p36.12|2016-10-05|||BC051733||7798|ENSG00000169641|8812416|NM_033631|||CCDS30628|OTTHUMG00000003227|7798|601422|NM_001142546|Q86V48|ENSG00000169641|uc001bgm.2|LUZP1_HUMAN||Q5TH93_%7C_Q8N4X3_%7C_Q8TEH1|Q86V48|artery_%20_development_%20_(GO:0060840)_%7C_neural_%20_fold_%20_bending_%20_(GO:0021503)_%7C_ventricular_%20_septum_%20_development_%20_(GO:0003281)|membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)|||||true|false|0.8674_%2C_0.1326|false|false|1||false|true|false|LUZP1:7798|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|16827981|23435538|false|false|0|true|0|false|0.807164_%2C_0.192836|false|false|true|SNV|true|0x050100400005150537000100|1|false|123|rs16827981|] +1 23720491 indel.1632 AC A . PASS FUNCOTATION=[TCEA3|hg19|chr1|23720492|23720492|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:23720492delC|ENST00000450454.2|-|8|807|c.699delG|c.(697-699)aagfs|p.K233fs|0.6034912718204489|GGTTCCGGTACTTCATGTCCG||||||||||||||||||||||||||1|upper_aerodigestive_tract(1)|||||||BC041613|NM_003196.1|NP_003187.1|HGNC:11615|transcription_%20_elongation_%20_factor_%20_A3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"transcription_%20_elongation_%20_factor_%20_A_%20_(SII)_%2C__%20_3"|TFIIS.H||1p36.12|2016-10-05||2016-02-15|AJ223473||6920|ENSG00000204219|9790746|NM_003196|||CCDS44086|OTTHUMG00000003233|6920|604128|NM_003196|O75764|ENSG00000204219|uc057dfl.1|TCEA3_HUMAN||A8K2K7_%7C_Q5DR83|O75764|regulation_%20_of_%20_DNA-templated_%20_transcription_%2C__%20_elongation_%20_(GO:0032784)_%7C_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006357)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false||false|false|||false|false|false|TCEA3:6920|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|769709955|23720492|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs769709955|] +1 23751126 exm30864 T A . PASS FUNCOTATION=[TCEA3|hg19|chr1|23751126|23751126|START_CODON_SNP||SNP|T|T|A|g.chr1:23751126T>A|ENST00000450454.2|-|1|108|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.7506234413965087|TCCTGGCCCATGTTGGCCCGC|TCEA3_ENST00000374601.3_START_CODON_SNP_p.M1L|||||||||||||||||||||||||1|upper_aerodigestive_tract(1)|||||||BC041613|NM_003196.1|NP_003187.1|HGNC:11615|transcription_%20_elongation_%20_factor_%20_A3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"transcription_%20_elongation_%20_factor_%20_A_%20_(SII)_%2C__%20_3"|TFIIS.H||1p36.12|2016-10-05||2016-02-15|AJ223473||6920|ENSG00000204219|9790746|NM_003196|||CCDS44086|OTTHUMG00000003233|6920|604128|NM_003196|O75764|ENSG00000204219|uc057dfl.1|TCEA3_HUMAN||A8K2K7_%7C_Q5DR83|O75764|regulation_%20_of_%20_DNA-templated_%20_transcription_%2C__%20_elongation_%20_(GO:0032784)_%7C_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006357)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false||false|false|||false|false|false|TCEA3:6920|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200503010|23751126|false|true|0|false|0|false|0.999794_%2C_0.000171715_%2C_3.4343e-005|false|false|false|SNV|true|0x050200000a05040402000100|1|false|137|rs200503010|] +1 23756350 exm30867 T C . PASS FUNCOTATION=[ASAP3|hg19|chr1|23756350|23756350|NONSTOP||SNP|T|T|C|g.chr1:23756350T>C|ENST00000336689.3|-|25|2756|c.2711A>G|c.(2710-2712)tAg>tGg|p.*904W|0.4763092269326683|AGCAAGGAGCTAGTCTTGCAA|ASAP3_ENST00000437606.2_NONSTOP_p.*895W/ASAP3_ENST00000495646.1_NONSTOP_p.*408W|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471134|NM_017707.3|NP_060177.2|HGNC:14987|ArfGAP_%20_with_%20_SH3_%20_domain_%2C__%20_ankyrin_%20_repeat_%20_and_%20_PH_%20_domain_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DDEFL1|"development_%20_and_%20_differentiation_%20_enhancing_%20_factor-like_%20_1"|FLJ20199_%2C__%20_UPLC1_%2C__%20_CENTB6|"centaurin_%2C__%20_beta_%20_6"|1p36.12|2016-10-05|2008-09-22|2008-10-09|AK000206||55616|ENSG00000088280|14654939|NM_017707|403_%7C_682_%7C_395_%7C_1291|Ankyrin_%20_repeat_%20_domain_%20_containing_%7C_Pleckstrin_%20_homology_%20_domain_%20_containing_%7C_ArfGAPs_%7C_BAR-PH_%20_domain_%20_containing|CCDS235_%2C__%20_CCDS44087|OTTHUMG00000003234|55616|616594|NM_001143778|Q8TDY4|ENSG00000088280|uc001bha.3|ASAP3_HUMAN||B3KRW0_%7C_B4DHH4_%7C_Q6P9F4_%7C_Q86UY1_%7C_Q9NXK2|Q8TDY4|cell_%20_migration_%20_(GO:0016477)_%7C_positive_%20_regulation_%20_of_%20_ARF_%20_GTPase_%20_activity_%20_(GO:0032850)_%7C_regulation_%20_of_%20_stress_%20_fiber_%20_assembly_%20_(GO:0051492)|cytoplasm_%20_(GO:0005737)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_ruffle_%20_(GO:0001726)|ARF_%20_GTPase_%20_activator_%20_activity_%20_(GO:0008060)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false||false|false|||false|false|false|ASAP3:55616|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|148021104|23756350|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000205000402000100|1|false|134|rs148021104|] +1 24100223 rs7514394 C T . PASS FUNCOTATION=[PITHD1|hg19|chr1|24100223|24100223|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:24100223C>T|ENST00000246151.4|+||||||0.4389027431421446|CCTGGAAGGGCCTTGTGTCCA|RP5-886K2.3_ENST00000427796.1_RNA/RP5-886K2.3_ENST00000447961.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471134|NM_020362.4|NP_065095.2|HGNC:25022|PITH_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf128|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_128"_%2C__%20_"PITH_%20_(C-terminal_%20_proteasome-interacting_%20_domain_%20_of_%20_thioredoxin-like)_%20_domain_%20_containing_%20_1"|HT014_%2C__%20_TXNL1CL|"TXNL1_%20_C-terminal_%20_like"|1p36.11|2016-04-06|2011-02-21|2016-04-06|||57095|ENSG00000057757|12477932|NM_020362|||CCDS240|OTTHUMG00000002960|57095||NM_020362|Q9GZP4|ENSG00000057757|uc001bhq.4|PITH1_HUMAN||B2R7J4_%7C_Q5QPN6_%7C_Q5QPN7_%7C_Q9NRI8|Q9GZP4||nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 24201027 var_1_24201027 AG A . PASS FUNCOTATION=[CNR2|hg19|chr1|24201028|24201028|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:24201028delG|ENST00000374472.4|-|2|1243|c.1080delC|c.(1078-1080)tgcfs|p.*361fs|0.5286783042394015|GGCCTCATCAGCAATCAGAGA|CNR2_ENST00000536471.1_FRAME_SHIFT_DEL_p.*361fs|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X74328|NM_001841.2|NP_001832.1|HGNC:2160|cannabinoid_%20_receptor_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"cannabinoid_%20_receptor_%20_2_%20_(macrophage)"|CB2||1p36.11|2016-10-05||2015-11-06|X74328||1269|ENSG00000188822||NM_001841|202|Cannabinoid_%20_receptors|CCDS245|OTTHUMG00000013892|1269|605051|NM_001841|P34972|ENSG00000188822|uc001bif.4|CNR2_HUMAN|Dronabinol(DB00470)_%7C_Nabilone(DB00486)|C6ES44_%7C_Q4VBK8_%7C_Q5JRH7_%7C_Q6B0G7_%7C_Q6NSY0|P34972|G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%2C__%20_coupled_%20_to_%20_cyclic_%20_nucleotide_%20_second_%20_messenger_%20_(GO:0007187)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_negative_%20_regulation_%20_of_%20_action_%20_potential_%20_(GO:0045759)_%7C_negative_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050728)_%7C_negative_%20_regulation_%20_of_%20_mast_%20_cell_%20_activation_%20_(GO:0033004)_%7C_negative_%20_regulation_%20_of_%20_nitric-oxide_%20_synthase_%20_activity_%20_(GO:0051001)_%7C_negative_%20_regulation_%20_of_%20_synaptic_%20_transmission_%2C__%20_GABAergic_%20_(GO:0032229)_%7C_response_%20_to_%20_amphetamine_%20_(GO:0001975)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)_%7C_sensory_%20_perception_%20_of_%20_pain_%20_(GO:0019233)|dendrite_%20_(GO:0030425)_%7C_extrinsic_%20_component_%20_of_%20_cytoplasmic_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0031234)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)|cannabinoid_%20_receptor_%20_activity_%20_(GO:0004949)||||true|false||false|false|||false|false|false|CNR2:1269|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|758031503|24201028|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs758031503|] +1 24372971 rs12401982 C T . PASS FUNCOTATION=[RP11-293P20.2|hg19|chr1|24372971|24372971|RNA||SNP|C|C|T|g.chr1:24372971C>T|ENST00000439239.2|+|||c.e2+4136C>T|||0.49625935162094764|GTGACTGTATCCGCCCACATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 24377326 rs11586125 T C . PASS FUNCOTATION=[RP11-293P20.2|hg19|chr1|24377326|24377326|RNA||SNP|T|T|C|g.chr1:24377326T>C|ENST00000439239.2|+|||c.e2+8491T>C|||0.5112219451371571|TGAGGCCTGCTCCAGCTCCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 24379601 rs4649163 T C . PASS FUNCOTATION=[RP11-293P20.2|hg19|chr1|24379601|24379601|RNA||SNP|T|T|C|g.chr1:24379601T>C|ENST00000439239.2|+|||c.e2+10766T>C|||0.5236907730673317|TTAGTCCATGTTGTGTTGCTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 24389631 indel.1682 GT G . PASS FUNCOTATION=[MYOM3|hg19|chr1|24389632|24389632|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:24389632delT|ENST00000374434.3|-|32|3918|c.3754delA|c.(3754-3756)accfs|p.T1252fs|0.5785536159600998|AACCAGGTGGTTTTCATGTAC|MYOM3_ENST00000338909.5_FRAME_SHIFT_DEL_p.T145fs/MYOM3_ENST00000330966.7_FRAME_SHIFT_DEL_p.T1255fs/RP11-293P20.2_ENST00000439239.2_RNA/RP11-293P20.4_ENST00000429191.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||196|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(104)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471134|NM_152372.3|NP_689585.3|HGNC:26679|myomesin_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"myomesin_%20_family_%2C__%20_member_%20_3"|FLJ35961||1p36.11|2016-10-05||2012-10-17|AK093280||127294|ENSG00000142661|18177667|NM_152372|555_%7C_593_%7C_658_%7C_594|Fibronectin_%20_type_%20_III_%20_domain_%20_containing_%7C_I-set_%20_domain_%20_containing_%7C_Myosin_%20_binding_%20_proteins_%7C_Immunoglobulin_%20_like_%20_domain_%20_containing|CCDS41281|OTTHUMG00000002969|127294|616832|NM_152372|Q5VTT5|ENSG00000142661|uc001bin.5|MYOM3_HUMAN||A6NF75_%7C_Q5VTT6_%7C_Q6AWC0_%7C_Q6AWC1_%7C_Q6NXF9_%7C_Q6ZRG7_%7C_Q7Z3G9_%7C_Q8NA11_%7C_Q96C54|Q5VTT5||M_%20_band_%20_(GO:0031430)|protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 24390612 var_1_24390612 AC A . PASS FUNCOTATION=[MYOM3|hg19|chr1|24390613|24390613|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:24390613delC|ENST00000374434.3|-|30|3735|c.3571delG|c.(3571-3573)gttfs|p.V1191fs|0.5361596009975063|TCGTCAGAAACCATCGCTCTG|MYOM3_ENST00000338909.5_FRAME_SHIFT_DEL_p.V84fs/MYOM3_ENST00000330966.7_FRAME_SHIFT_DEL_p.V1194fs/RP11-293P20.2_ENST00000439239.2_RNA/RP11-293P20.4_ENST00000429191.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||196|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(104)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471134|NM_152372.3|NP_689585.3|HGNC:26679|myomesin_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"myomesin_%20_family_%2C__%20_member_%20_3"|FLJ35961||1p36.11|2016-10-05||2012-10-17|AK093280||127294|ENSG00000142661|18177667|NM_152372|555_%7C_593_%7C_658_%7C_594|Fibronectin_%20_type_%20_III_%20_domain_%20_containing_%7C_I-set_%20_domain_%20_containing_%7C_Myosin_%20_binding_%20_proteins_%7C_Immunoglobulin_%20_like_%20_domain_%20_containing|CCDS41281|OTTHUMG00000002969|127294|616832|NM_152372|Q5VTT5|ENSG00000142661|uc001bin.5|MYOM3_HUMAN||A6NF75_%7C_Q5VTT6_%7C_Q6AWC0_%7C_Q6AWC1_%7C_Q6NXF9_%7C_Q6ZRG7_%7C_Q7Z3G9_%7C_Q8NA11_%7C_Q96C54|Q5VTT5||M_%20_band_%20_(GO:0031430)|protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 24527095 exm-rs11249024 T C . PASS FUNCOTATION=[RP11-10N16.2|hg19|chr1|24527095|24527095|LINCRNA||SNP|T|T|C|g.chr1:24527095T>C|ENST00000439059.2|+|||c.e1+214T>C|||0.44139650872817954|TGAGATGTATTGAAAGATTTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 24531634 rs946662 C A . PASS FUNCOTATION=[RP11-10N16.2|hg19|chr1|24531634|24531634|LINCRNA||SNP|C|C|A|g.chr1:24531634C>A|ENST00000439059.2|+|||c.e2+2545C>A|||0.43640897755610975|AGAGAGCTAACGTAACTTGCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 24537652 psy_rs112274538 C A . PASS FUNCOTATION=[RP11-10N16.2|hg19|chr1|24537652|24537652|LINCRNA||SNP|C|C|A|g.chr1:24537652C>A|ENST00000439059.2|+|||c.e3-531C>A|||0.5211970074812967|CAAATCACTTCTCCAGGAAGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 24636835 rs672511 C T . PASS FUNCOTATION=[RP11-10N16.3|hg19|chr1|24636835|24636835|RNA||SNP|C|C|T|g.chr1:24636835C>T|ENST00000437965.1|-|||c.e3-330G>A|||0.42643391521197005|TACAGACTCACGTAGACTGGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 24640314 rs621535 G A . PASS FUNCOTATION=[RP11-10N16.3|hg19|chr1|24640314|24640314|RNA||SNP|G|G|A|g.chr1:24640314G>A|ENST00000437965.1|-|||c.e2+1832C>T|||0.4688279301745636|GCTGTATTGAGGGGAGGTTGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 24645356 rs2248219 A G . PASS FUNCOTATION=[GRHL3|hg19|chr1|24645356|24645356|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:24645356A>G|ENST00000236255.4|+||||||0.45885286783042395|TCTGTAAAATATGTGTTGAAG|GRHL3_ENST00000342072.4_FIVE_PRIME_FLANK/GRHL3_ENST00000350501.5_FIVE_PRIME_FLANK/GRHL3_ENST00000356046.2_FIVE_PRIME_FLANK/GRHL3_ENST00000361548.4_FIVE_PRIME_FLANK/RP11-10N16.3_ENST00000437965.1_RNA/GRHL3_ENST00000530984.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||CH471134|NM_021180.3|NP_067003.2|HGNC:25839|grainyhead_%20_like_%20_transcription_%20_factor_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TFCP2L4|"transcription_%20_factor_%20_CP2-like_%20_4"_%2C__%20_"grainyhead-like_%20_3_%20_(Drosophila)"|SOM||1p36.11|2016-10-05|2005-07-11|2016-01-11|AY231161||57822|ENSG00000158055|12549979_%2C__%20_23685552|NM_021180|||CCDS251_%2C__%20_CCDS252_%2C__%20_CCDS44088_%2C__%20_CCDS53284|OTTHUMG00000003040|57822|608317|NM_001195010|Q8TE85|ENSG00000158055|uc001bix.3|GRHL3_HUMAN||A2A297_%7C_B2RCL1_%7C_G3XAF0_%7C_Q5TH78_%7C_Q86Y06_%7C_Q8N407|Q8TE85|central_%20_nervous_%20_system_%20_development_%20_(GO:0007417)_%7C_cochlea_%20_morphogenesis_%20_(GO:0090103)_%7C_ectoderm_%20_development_%20_(GO:0007398)_%7C_epidermis_%20_development_%20_(GO:0008544)_%7C_establishment_%20_of_%20_planar_%20_polarity_%20_(GO:0001736)_%7C_eyelid_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0061029)_%7C_pattern_%20_specification_%20_process_%20_(GO:0007389)_%7C_planar_%20_cell_%20_polarity_%20_pathway_%20_involved_%20_in_%20_neural_%20_tube_%20_closure_%20_(GO:0090179)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_regulation_%20_of_%20_actin_%20_cytoskeleton_%20_organization_%20_(GO:0032956)_%7C_wound_%20_healing_%20_(GO:0042060)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_sequence-specific_%20_DNA_%20_binding_%20_RNA_%20_polymerase_%20_II_%20_transcription_%20_factor_%20_activity_%20_(GO:0000981)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 24687425 indel.1723 T TA . PASS FUNCOTATION=[STPG1|hg19|chr1|24687425|24687426|FRAME_SHIFT_INS||INS|-|-|A|g.chr1:24687425_24687426insA|ENST00000374409.1|-|8|1099|c.843_844insT|c.(844-846)aagfs|p.K282fs|0.5|TGAAATGCTTGCGGGGGCCT|STPG1_ENST00000337248.4_FRAME_SHIFT_INS_p.K282fs/STPG1_ENST00000003583.8_FRAME_SHIFT_INS_p.K235fs/GRHL3_ENST00000350501.5_INTRON/STPG1_ENST00000440416.1_FRAME_SHIFT_INS_p.K235fs/STPG1_ENST00000468303.1_INTRON|||||||||||||||||||||||||||||||||BC063891|NM_001199012.1|NP_001185941.1|HGNC:28070|sperm_%20_tail_%20_PG-rich_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf201|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_201"|FLJ33340_%2C__%20_MAPO2|"O6-methylguanine-induced_%20_apoptosis_%20_2"|1p36.11|2016-02-26|2012-07-30|2016-02-26|BC047705||90529|ENSG00000001460|23028632|NM_178122|||CCDS253_%2C__%20_CCDS55581|OTTHUMG00000003297|90529|615826|NM_001199012|Q5TH74|ENSG00000001460|uc001bja.4|STPG1_HUMAN||Q49AP0_%7C_Q6P3R4_%7C_Q86VU9_%7C_Q8WVQ3|Q5TH74|apoptotic_%20_process_%20_(GO:0006915)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|STPG1:90529_%7C_GRHL3:57822|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|868621625|24687425|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|147|rs868621625|] +1 24876383 rs2776747 T C . PASS FUNCOTATION=[RP4-594I10.3|hg19|chr1|24876383|24876383|LINCRNA||SNP|T|T|C|g.chr1:24876383T>C|ENST00000577528.1|-|||c.e2-1996A>G|||0.4513715710723192|GGGACTTGGATGCTGAATCAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 24877458 rs12065278 A G . PASS FUNCOTATION=[RP4-594I10.3|hg19|chr1|24877458|24877458|LINCRNA||SNP|A|A|G|g.chr1:24877458A>G|ENST00000577528.1|-|||c.e2-921T>C|||0.49625935162094764|TTTTTCTCCAAAGCACTTATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 24881126 rs6424099 C T . PASS FUNCOTATION=[NCMAP|hg19|chr1|24881126|24881126|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:24881126C>T|ENST00000374392.2|+||||||0.5062344139650873|TGGCCTCTCCCTGTAACCAGG|RP4-594I10.3_ENST00000577528.1_LINCRNA|||||||||||||||||||||||||||||||||BC147015|NM_001010980.4|NP_001010980.1|HGNC:29332|non-compact_%20_myelin_%20_associated_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf130|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_130"|FLJ42528_%2C__%20_MP11|"myelin_%20_protein_%20_of_%20_11_%20_kDa"|1p36.11|2015-11-18|2012-07-31|2015-11-18|AK124519||400746|ENSG00000184454|18650334|NM_001010980|||CCDS30632|OTTHUMG00000003317|400746||NM_001010980|Q5T1S8|ENSG00000184454|uc001bjk.3|NCMAP_HUMAN||A0PK04_%7C_B2RV34|Q5T1S8|peripheral_%20_nervous_%20_system_%20_myelin_%20_formation_%20_(GO:0032290)_%7C_positive_%20_regulation_%20_of_%20_myelination_%20_(GO:0031643)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_paranode_%20_region_%20_of_%20_axon_%20_(GO:0033270)_%7C_Schmidt-Lanterman_%20_incisure_%20_(GO:0043220)|structural_%20_constituent_%20_of_%20_myelin_%20_sheath_%20_(GO:0019911)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 24881453 rs6424101 G T . PASS FUNCOTATION=[NCMAP|hg19|chr1|24881453|24881453|FIVE_PRIME_FLANK||SNP|G|G|T|g.chr1:24881453G>T|ENST00000374392.2|+||||||0.5087281795511222|TGGGTTGGGAGCAGTGGCTCA|RP4-594I10.3_ENST00000577528.1_LINCRNA|||||||||||||||||||||||||||||||||BC147015|NM_001010980.4|NP_001010980.1|HGNC:29332|non-compact_%20_myelin_%20_associated_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf130|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_130"|FLJ42528_%2C__%20_MP11|"myelin_%20_protein_%20_of_%20_11_%20_kDa"|1p36.11|2015-11-18|2012-07-31|2015-11-18|AK124519||400746|ENSG00000184454|18650334|NM_001010980|||CCDS30632|OTTHUMG00000003317|400746||NM_001010980|Q5T1S8|ENSG00000184454|uc001bjk.3|NCMAP_HUMAN||A0PK04_%7C_B2RV34|Q5T1S8|peripheral_%20_nervous_%20_system_%20_myelin_%20_formation_%20_(GO:0032290)_%7C_positive_%20_regulation_%20_of_%20_myelination_%20_(GO:0031643)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_paranode_%20_region_%20_of_%20_axon_%20_(GO:0033270)_%7C_Schmidt-Lanterman_%20_incisure_%20_(GO:0043220)|structural_%20_constituent_%20_of_%20_myelin_%20_sheath_%20_(GO:0019911)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 25297184 exm-rs11249215 G A . PASS FUNCOTATION=[RP11-84D1.2|hg19|chr1|25297184|25297184|LINCRNA||SNP|G|G|A|g.chr1:25297184G>A|ENST00000568143.1|-|||c.e1-172C>T|||0.5910224438902744|GCCACATCCCGTCGTGTCCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 25297184 rs11249215 G A . PASS FUNCOTATION=[RP11-84D1.2|hg19|chr1|25297184|25297184|LINCRNA||SNP|G|G|A|g.chr1:25297184G>A|ENST00000568143.1|-|||c.e1-172C>T|||0.5910224438902744|GCCACATCCCGTCGTGTCCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 25297217 rs11249216 G T . PASS FUNCOTATION=[RP11-84D1.2|hg19|chr1|25297217|25297217|LINCRNA||SNP|G|G|T|g.chr1:25297217G>T|ENST00000568143.1|-|||c.e1-139C>A|||0.5885286783042394|CACTCCCCGTGTCTCCCTAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 25908241 rs10902661 C T . PASS FUNCOTATION=[RP11-70P17.1|hg19|chr1|25908241|25908241|LINCRNA||SNP|C|C|T|g.chr1:25908241C>T|ENST00000412797.1|+|||c.e1-22C>T|||0.5960099750623441|TGACCTGGACCGCATCCCGGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 25908805 psy_rs6598889 T C . PASS FUNCOTATION=[RP11-70P17.1|hg19|chr1|25908805|25908805|LINCRNA||SNP|T|T|C|g.chr1:25908805T>C|ENST00000412797.1|+|||c.e1+542T>C|||0.486284289276808|GGTCTGGGCGTGGTGGCTCAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 25914219 rs7546822 T C . PASS FUNCOTATION=[RP11-70P17.1|hg19|chr1|25914219|25914219|LINCRNA||SNP|T|T|C|g.chr1:25914219T>C|ENST00000412797.1|+|||c.e2-2441T>C|||0.48877805486284287|AAAGAGTTACTGAGAACTGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 26161571 indel.1796 CT C . PASS FUNCOTATION=[AUNIP|hg19|chr1|26161572|26161572|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:26161572delT|ENST00000374298.3|-|3|1042|c.986delA|c.(985-987)cagfs|p.Q329fs|0.44139650872817954|CCCATCCTCCTGGCACTGAGC|AUNIP_ENST00000538789.1_FRAME_SHIFT_DEL_p.Q329fs/AUNIP_ENST00000481602.1_INTRON/RP1-317E23.7_ENST00000606617.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||GQ844687|NM_024037.1|NP_076942.1|HGNC:28363|aurora_%20_kinase_%20_A_%20_and_%20_ninein_%20_interacting_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf135|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_135"|MGC2603_%2C__%20_AIBp||1p36.11|2014-11-19|2012-08-07|2012-08-07|||79000|ENSG00000127423|20596670|NM_024037|||CCDS266_%2C__%20_CCDS72731|OTTHUMG00000007372|79000||NM_001287490|Q9H7T9|ENSG00000127423|uc001bkw.3|AUNIP_HUMAN||C9EI59_%7C_Q53F70|Q9H7T9|spindle_%20_organization_%20_(GO:0007051)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_spindle_%20_pole_%20_(GO:0000922)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 26161629 var_1_26161629 GT G . PASS FUNCOTATION=[AUNIP|hg19|chr1|26161630|26161630|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:26161630delT|ENST00000374298.3|-|3|984|c.928delA|c.(928-930)accfs|p.T310fs|0.4339152119700748|CAGTTATTGGTTACATCTTGA|AUNIP_ENST00000538789.1_FRAME_SHIFT_DEL_p.T310fs/AUNIP_ENST00000481602.1_INTRON/RP1-317E23.7_ENST00000606617.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||GQ844687|NM_024037.1|NP_076942.1|HGNC:28363|aurora_%20_kinase_%20_A_%20_and_%20_ninein_%20_interacting_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf135|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_135"|MGC2603_%2C__%20_AIBp||1p36.11|2014-11-19|2012-08-07|2012-08-07|||79000|ENSG00000127423|20596670|NM_024037|||CCDS266_%2C__%20_CCDS72731|OTTHUMG00000007372|79000||NM_001287490|Q9H7T9|ENSG00000127423|uc001bkw.3|AUNIP_HUMAN||C9EI59_%7C_Q53F70|Q9H7T9|spindle_%20_organization_%20_(GO:0007051)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_spindle_%20_pole_%20_(GO:0000922)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 26161798 indel.1800 AGG A . PASS FUNCOTATION=[AUNIP|hg19|chr1|26161799|26161800|FRAME_SHIFT_DEL||DEL|GG|GG|-|g.chr1:26161799_26161800delGG|ENST00000374298.3|-|3|815_816|c.758_759delCC|c.(757-762)tcctggfs|p.S253fs|0.4527363184079602|CTCCATTCCAGGATTCCCTGTA|AUNIP_ENST00000538789.1_FRAME_SHIFT_DEL_p.S253fs/AUNIP_ENST00000481602.1_INTRON/RP1-317E23.7_ENST00000606617.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||GQ844687|NM_024037.1|NP_076942.1|HGNC:28363|aurora_%20_kinase_%20_A_%20_and_%20_ninein_%20_interacting_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf135|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_135"|MGC2603_%2C__%20_AIBp||1p36.11|2014-11-19|2012-08-07|2012-08-07|||79000|ENSG00000127423|20596670|NM_024037|||CCDS266_%2C__%20_CCDS72731|OTTHUMG00000007372|79000||NM_001287490|Q9H7T9|ENSG00000127423|uc001bkw.3|AUNIP_HUMAN||C9EI59_%7C_Q53F70|Q9H7T9|spindle_%20_organization_%20_(GO:0007051)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_spindle_%20_pole_%20_(GO:0000922)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 26161915 indel.1804 TG T . PASS FUNCOTATION=[AUNIP|hg19|chr1|26161916|26161916|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:26161916delG|ENST00000374298.3|-|3|698|c.642delC|c.(640-642)cacfs|p.H214fs|0.4488778054862843|GTAGTTTGGTGTGTTTCTCCA|AUNIP_ENST00000538789.1_FRAME_SHIFT_DEL_p.H214fs/AUNIP_ENST00000481602.1_INTRON/RP1-317E23.7_ENST00000606617.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||GQ844687|NM_024037.1|NP_076942.1|HGNC:28363|aurora_%20_kinase_%20_A_%20_and_%20_ninein_%20_interacting_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf135|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_135"|MGC2603_%2C__%20_AIBp||1p36.11|2014-11-19|2012-08-07|2012-08-07|||79000|ENSG00000127423|20596670|NM_024037|||CCDS266_%2C__%20_CCDS72731|OTTHUMG00000007372|79000||NM_001287490|Q9H7T9|ENSG00000127423|uc001bkw.3|AUNIP_HUMAN||C9EI59_%7C_Q53F70|Q9H7T9|spindle_%20_organization_%20_(GO:0007051)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_spindle_%20_pole_%20_(GO:0000922)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 26164008 indel.1810 AG A . PASS FUNCOTATION=[AUNIP|hg19|chr1|26164009|26164009|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:26164009delG|ENST00000374298.3|-|2|171|c.115delC|c.(115-117)ctcfs|p.L39fs|0.39650872817955113|CCAGGAAGGAGTGTTAGCATT|AUNIP_ENST00000538789.1_FRAME_SHIFT_DEL_p.L39fs/AUNIP_ENST00000481602.1_INTRON|||||||||||||||||||||||||||||||||GQ844687|NM_024037.1|NP_076942.1|HGNC:28363|aurora_%20_kinase_%20_A_%20_and_%20_ninein_%20_interacting_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf135|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_135"|MGC2603_%2C__%20_AIBp||1p36.11|2014-11-19|2012-08-07|2012-08-07|||79000|ENSG00000127423|20596670|NM_024037|||CCDS266_%2C__%20_CCDS72731|OTTHUMG00000007372|79000||NM_001287490|Q9H7T9|ENSG00000127423|uc001bkw.3|AUNIP_HUMAN||C9EI59_%7C_Q53F70|Q9H7T9|spindle_%20_organization_%20_(GO:0007051)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_spindle_%20_pole_%20_(GO:0000922)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 26301006 indel.1816 AC A . PASS FUNCOTATION=[PAFAH2|hg19|chr1|26301007|26301007|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:26301007delC|ENST00000374282.3|-|9|1074|c.893delG|c.(892-894)tgtfs|p.C298fs|0.4538653366583541|ATGCTGGGCACATATCTTCTT|PAFAH2_ENST00000374284.1_FRAME_SHIFT_DEL_p.C298fs|||||||||||||||||||||||||68|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U89386|NM_000437.3|NP_000428.2|HGNC:8579|platelet_%20_activating_%20_factor_%20_acetylhydrolase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"platelet-activating_%20_factor_%20_acetylhydrolase_%20_2_%20_(40kD)"_%2C__%20_"platelet-activating_%20_factor_%20_acetylhydrolase_%20_2_%2C__%20_40kDa"|HSD-PLA2||1p36.11|2016-10-05||2016-03-09|D87845||5051|ENSG00000158006|8955149_%2C__%20_9494101|NM_000437|||CCDS270|OTTHUMG00000007437|5051|602344|NM_000437|Q99487|ENSG00000158006|uc001bld.4|PAFA2_HUMAN||D3DPK1_%7C_O15458_%7C_Q5SY02|Q99487|lipid_%20_catabolic_%20_process_%20_(GO:0016042)_%7C_lipid_%20_metabolic_%20_process_%20_(GO:0006629)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)|cytoplasm_%20_(GO:0005737)|1-alkyl-2-acetylglycerophosphocholine_%20_esterase_%20_activity_%20_(GO:0003847)_%7C_phospholipid_%20_binding_%20_(GO:0005543)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 26496455 rs2232648 C T . PASS FUNCOTATION=[ZNF593|hg19|chr1|26496455|26496455|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:26496455C>T|ENST00000374266.5|+|1|||||0.71571072319202|GCCCCTTGGCCGGCCGGGCTG|ZNF593_ENST00000270812.5_FIVE_PRIME_UTR/RP11-96L14.7_ENST00000407889.2_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||D45213|NM_015871.4|NP_056955.2|HGNC:30943|zinc_%20_finger_%20_protein_%20_593|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ZT86||1p36.11|2016-10-05|||D45213||51042|ENSG00000142684|9115366|NM_015871|||CCDS275|OTTHUMG00000007538|51042|616698|NM_015871|O00488|ENSG00000142684|uc001bll.5|ZN593_HUMAN||B2R4S0_%7C_Q5T2H7|O00488|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 26560745 rs3795687 G A . PASS FUNCOTATION=[CEP85|hg19|chr1|26560745|26560745|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:26560745G>A|ENST00000252992.4|+|1|||||0.6758104738154613|CCGCAGACGTGGTGGCTGCAG|CEP85_ENST00000451429.2_FIVE_PRIME_UTR|||||||||||||||||||||||||178|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_022778.3|NP_073615.2|HGNC:25309|centrosomal_%20_protein_%20_85|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CCDC21|"coiled-coil_%20_domain_%20_containing_%20_21"_%2C__%20_"centrosomal_%20_protein_%20_85kDa"|DKFZP434L0117||1p36.11|2016-03-30|2011-05-06|2016-03-30|AK024038||64793|ENSG00000130695|12477932|NM_022778|||CCDS277_%2C__%20_CCDS60038_%2C__%20_CCDS81285|OTTHUMG00000003380|64793||NM_001281517|Q6P2H3|ENSG00000130695|uc001bls.3|CEP85_HUMAN||B4DRL1_%7C_D3DPK4_%7C_F8W7K4_%7C_Q5VY68_%7C_Q5VY70_%7C_Q9H6Q1_%7C_Q9H828_%7C_Q9UF52|Q6P2H3||centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nucleolus_%20_(GO:0005730)_%7C_spindle_%20_pole_%20_(GO:0000922)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 26570762 indel.1881 AC A . PASS FUNCOTATION=[CEP85|hg19|chr1|26570763|26570763|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:26570763delC|ENST00000252992.4|+|3|292|c.162delC|c.(160-162)gacfs|p.D54fs|0.428927680798005|GTGTAGCCGACAGTGGGGACA|CEP85_ENST00000451429.2_INTRON|||||||||||||||||||||||||178|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_022778.3|NP_073615.2|HGNC:25309|centrosomal_%20_protein_%20_85|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CCDC21|"coiled-coil_%20_domain_%20_containing_%20_21"_%2C__%20_"centrosomal_%20_protein_%20_85kDa"|DKFZP434L0117||1p36.11|2016-03-30|2011-05-06|2016-03-30|AK024038||64793|ENSG00000130695|12477932|NM_022778|||CCDS277_%2C__%20_CCDS60038_%2C__%20_CCDS81285|OTTHUMG00000003380|64793||NM_001281517|Q6P2H3|ENSG00000130695|uc001bls.3|CEP85_HUMAN||B4DRL1_%7C_D3DPK4_%7C_F8W7K4_%7C_Q5VY68_%7C_Q5VY70_%7C_Q9H6Q1_%7C_Q9H828_%7C_Q9UF52|Q6P2H3||centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nucleolus_%20_(GO:0005730)_%7C_spindle_%20_pole_%20_(GO:0000922)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 27020012 rs4466675 C T . PASS FUNCOTATION=[ARID1A|hg19|chr1|27020012|27020012|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:27020012C>T|ENST00000324856.7|+||||||0.5112219451371571|TTCCTGGGATCGTGGTGTGGG|ARID1A_ENST00000457599.2_FIVE_PRIME_FLANK/RP5-968P14.2_ENST00000569378.1_RNA||AT_%20_rich_%20_interactive_%20_domain_%20_1A_%20_(SWI-like)|8289|1|1p35.3|yes||"clear_%20_cell_%20_ovarian_%20_carcinoma_%2C__%20_RCC"|||E|Rec|"Mis_%2C__%20_N_%2C__%20_F_%2C__%20_S_%2C__%20_D"||||||||||ARID1A{NM_006015.3}:r.1_1507_MAST2{ENST00000361297}:r.461_5738(2)||6004|NS(226)_%7C_adrenal_gland(1)_%7C_autonomic_ganglia(93)_%7C_biliary_tract(90)_%7C_bone(29)_%7C_breast(600)_%7C_central_nervous_system(245)_%7C_cervix(15)_%7C_endometrium(592)_%7C_eye(26)_%7C_genital_tract(2)_%7C_haematopoietic_and_lymphoid_tissue(631)_%7C_kidney(367)_%7C_large_intestine(396)_%7C_liver(231)_%7C_lung(183)_%7C_meninges(19)_%7C_oesophagus(5)_%7C_ovary(521)_%7C_pancreas(365)_%7C_pericardium(2)_%7C_peritoneum(13)_%7C_pleura(23)_%7C_prostate(58)_%7C_salivary_gland(171)_%7C_skin(120)_%7C_small_intestine(1)_%7C_soft_tissue(37)_%7C_stomach(511)_%7C_thymus(47)_%7C_thyroid(42)_%7C_upper_aerodigestive_tract(192)_%7C_urinary_tract(150)|||||||FJ821255|NM_006015.4|NP_006006.3|HGNC:11110|AT-rich_%20_interaction_%20_domain_%20_1A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf4_%2C__%20_SMARCF1|"SWI/SNF_%20_related_%2C__%20_matrix_%20_associated_%2C__%20_actin_%20_dependent_%20_regulator_%20_of_%20_chromatin_%2C__%20_subfamily_%20_f_%2C__%20_member_%20_1"_%2C__%20_"AT_%20_rich_%20_interactive_%20_domain_%20_1A_%20_(SWI-_%20_like)"_%2C__%20_"AT_%20_rich_%20_interactive_%20_domain_%20_1A_%20_(SWI-like)"|B120_%2C__%20_P270_%2C__%20_C10rf4_%2C__%20_BAF250_%2C__%20_BAF250a||1p36.11|2017-03-24|2004-01-30|2015-11-17|AB001895||8289|ENSG00000117713|9630625_%2C__%20_9434167|NM_139135|418|AT-rich_%20_interaction_%20_domain_%20_containing|CCDS285_%2C__%20_CCDS44091|OTTHUMG00000004004|8289|603024|NM_006015|O14497|ENSG00000117713|uc001bmv.2|ARI1A_HUMAN||D3DPL1_%7C_Q53FK9_%7C_Q5T0W1_%7C_Q5T0W2_%7C_Q5T0W3_%7C_Q8NFD6_%7C_Q96T89_%7C_Q9BY33_%7C_Q9HBJ5_%7C_Q9UPZ1|O14497|androgen_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030521)_%7C_ATP-dependent_%20_chromatin_%20_remodeling_%20_(GO:0043044)_%7C_cardiac_%20_chamber_%20_development_%20_(GO:0003205)_%7C_chromatin_%20_remodeling_%20_(GO:0006338)_%7C_chromatin-mediated_%20_maintenance_%20_of_%20_transcription_%20_(GO:0048096)_%7C_forebrain_%20_development_%20_(GO:0030900)_%7C_glucocorticoid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0042921)_%7C_intracellular_%20_estrogen_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030520)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_nucleosome_%20_disassembly_%20_(GO:0006337)_%7C_nucleosome_%20_mobilization_%20_(GO:0042766)_%7C_optic_%20_cup_%20_formation_%20_involved_%20_in_%20_camera-type_%20_eye_%20_development_%20_(GO:0003408)_%7C_placenta_%20_blood_%20_vessel_%20_development_%20_(GO:0060674)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006357)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nBAF_%20_complex_%20_(GO:0071565)_%7C_npBAF_%20_complex_%20_(GO:0071564)_%7C_nuclear_%20_chromatin_%20_(GO:0000790)_%7C_nucleus_%20_(GO:0005634)_%7C_SWI/SNF_%20_complex_%20_(GO:0016514)|DNA_%20_binding_%20_(GO:0003677)_%7C_ligand-dependent_%20_nuclear_%20_receptor_%20_binding_%20_(GO:0016922)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 27558522 rs10902652 C T . PASS FUNCOTATION=[WDTC1|hg19|chr1|27558522|27558522|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:27558522C>T|ENST00000319394.3|+||||||0.5286783042394015|TGGTGGCGGGCGCCTGTAGTC|WDTC1_ENST00000361771.3_FIVE_PRIME_FLANK/RP11-40H20.4_ENST00000425205.1_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||FO393419|NM_015023.4|NP_055838.2|HGNC:29175|WD_%20_and_%20_tetratricopeptide_%20_repeats_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA1037_%2C__%20_ADP_%2C__%20_DCAF9|"adipose_%20_homolog_%20_(Drosophila)"_%2C__%20_"DDB1_%20_and_%20_CUL4_%20_associated_%20_factor_%20_9"|1p36.11|2016-10-05|||AK023778||23038|ENSG00000142784|12717455_%2C__%20_19238144|NM_015023|498_%7C_769_%7C_362|DDB1_%20_and_%20_CUL4_%20_associated_%20_factors_%7C_Tetratricopeptide_%20_repeat_%20_domain_%20_containing_%7C_WD_%20_repeat_%20_domain_%20_containing|CCDS296_%2C__%20_CCDS60044|OTTHUMG00000004273|23038||NM_001276252|Q8N5D0|ENSG00000142784|uc001bno.5|WDTC1_HUMAN||D3DPL5_%7C_Q5SSC5_%7C_Q9NV87_%7C_Q9UPW4|Q8N5D0|cellular_%20_chemical_%20_homeostasis_%20_(GO:0055082)_%7C_cellular_%20_response_%20_to_%20_insulin_%20_stimulus_%20_(GO:0032869)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_in_%20_utero_%20_embryonic_%20_development_%20_(GO:0001701)_%7C_multicellular_%20_organism_%20_growth_%20_(GO:0035264)_%7C_negative_%20_regulation_%20_of_%20_fatty_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0045717)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)_%7C_regulation_%20_of_%20_cell_%20_size_%20_(GO:0008361)|cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)|enzyme_%20_inhibitor_%20_activity_%20_(GO:0004857)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 28120132 indel.2029 AC A . PASS FUNCOTATION=[STX12|hg19|chr1|28120133|28120133|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:28120133delC|ENST00000373943.4|+|3|402|c.278delC|c.(277-279)actfs|p.T93fs|0.40399002493765584|CCCTTATCTACTTCAGAACAG|STX12_ENST00000468761.1_INTRON|Ovarian(5_%3B_5_%20_342_%20_2097_%20_9488_%20_34083)||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CR407620|NM_177424.2|NP_803173.1|HGNC:11430|syntaxin_%20_12|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||STX13_%2C__%20_STX14||1p35.3|2014-12-16|||BC046999||23673|ENSG00000117758|9507000|NM_177424|818|Syntaxins|CCDS310|OTTHUMG00000003730|23673|606892|NM_177424|Q86Y82|ENSG00000117758|uc001bou.4|STX12_HUMAN||B1AJQ7_%7C_O95564|Q86Y82|cholesterol_%20_efflux_%20_(GO:0033344)_%7C_intracellular_%20_protein_%20_transport_%20_(GO:0006886)_%7C_protein_%20_stabilization_%20_(GO:0050821)_%7C_synaptic_%20_vesicle_%20_exocytosis_%20_(GO:0016079)|endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_phagocytic_%20_vesicle_%20_(GO:0045335)_%7C_SNARE_%20_complex_%20_(GO:0031201)|SNAP_%20_receptor_%20_activity_%20_(GO:0005484)_%7C_SNARE_%20_binding_%20_(GO:0000149)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 28906454 var_1_28906454 C T . PASS FUNCOTATION=[SNHG12|hg19|chr1|28906454|28906454|RNA||SNP|C|C|T|g.chr1:28906454C>T|ENST00000488745.1|-|||c.e4+30G>A|||0.48877805486284287|ACAAGCTCACCTCCTCAGTAT|SNHG12_ENST00000531126.1_RNA/SNHG12_ENST00000483436.1_SPLICE_SITE/SNHG12_ENST00000475441.1_SPLICE_SITE/SNHG12_ENST00000384581.1_FIVE_PRIME_FLANK/SNORD99_ENST00000408612.1_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||HGNC:30062|small_%20_nucleolar_%20_RNA_%20_host_%20_gene_%20_12|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|C1orf79|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_79"_%2C__%20_"small_%20_nucleolar_%20_RNA_%20_host_%20_gene_%20_12_%20_(non-protein_%20_coding)"|PNAS-123_%2C__%20_LINC00100_%2C__%20_ASLNC04080|"long_%20_intergenic_%20_non-protein_%20_coding_%20_RNA_%20_100"|1p35.3|2016-12-21|2008-09-05|2015-02-20|AF277181_%2C__%20_KJ782215||85028|ENSG00000197989|25695231_%2C__%20_27980086|NR_024127|788|Long_%20_non-coding_%20_RNAs_%20_(published)||OTTHUMG00000003654|85028||NR_024127|Q9BXW3|ENSG00000197989|uc057dzf.1|SNH12_HUMAN|||Q9BXW3|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 29194818 rs204069 A G . PASS FUNCOTATION=[RP1-212P9.2|hg19|chr1|29194818|29194818|LINCRNA||SNP|A|A|G|g.chr1:29194818A>G|ENST00000443593.2|+|||c.e1-254A>G|||0.4937655860349127|TAATACGATCATCAGCCTCAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 29194901 exm2268873 C T . PASS FUNCOTATION=[RP1-212P9.2|hg19|chr1|29194901|29194901|LINCRNA||SNP|C|C|T|g.chr1:29194901C>T|ENST00000443593.2|+|||c.e1-171C>T|||0.4937655860349127|GTCACTTCACCTCCACGAGAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 29200219 rs7511894 T C . PASS FUNCOTATION=[RP1-212P9.3|hg19|chr1|29200219|29200219|RNA||SNP|T|T|C|g.chr1:29200219T>C|ENST00000418471.1|-|||c.e2+1219A>G|||0.5561097256857855|AGCTACACTCTTGGATCCCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 29658494 rs7530986 T C . PASS FUNCOTATION=[RP3-437I16.1|hg19|chr1|29658494|29658494|LINCRNA||SNP|T|T|C|g.chr1:29658494T>C|ENST00000417651.1|-|||c.e3+790A>G|||0.4937655860349127|TGAAGAAAAATGAAATGTATC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 29670073 psy_rs16838142 T C . PASS FUNCOTATION=[RP3-437I16.1|hg19|chr1|29670073|29670073|LINCRNA||SNP|T|T|C|g.chr1:29670073T>C|ENST00000417651.1|-|||c.e1-6122A>G|||0.5461346633416458|AGTCGTTCCATTTCCACACTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 30487342 rs453149 T C . PASS FUNCOTATION=[RP11-111I12.1|hg19|chr1|30487342|30487342|LINCRNA||SNP|T|T|C|g.chr1:30487342T>C|ENST00000445180.2|-|||c.e7-14A>G|||0.5286783042394015|AAGGAGAGCTTGGGGTGACTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 30494591 rs1603724 G A . PASS FUNCOTATION=[RP11-111I12.1|hg19|chr1|30494591|30494591|LINCRNA||SNP|G|G|A|g.chr1:30494591G>A|ENST00000445180.2|-|||c.e4-3281C>T|||0.29925187032418954|TGAAAGTATCGCCATCTTAAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 31198733 rs1149048 A G . PASS FUNCOTATION=[MATN1|hg19|chr1|31198733|31198733|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:31198733A>G|ENST00000373765.4|-||||||0.57356608478803|GGCTGTGTCCAGGGCTCAGGG|MATN1-AS1_ENST00000414532.2_RNA/MATN1-AS1_ENST00000454613.1_RNA/MATN1-AS1_ENST00000443076.1_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M55683|NM_002379.3|NP_002370.1|HGNC:6907|matrilin_%20_1_%2C__%20_cartilage_%20_matrix_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CRTM_%2C__%20_CMP||||1p35.2|2016-10-05|||M55675||4146|ENSG00000162510|2246248_%2C__%20_9083061|NM_002379|||CCDS336|OTTHUMG00000003705|4146|115437|NM_002379|P21941|ENSG00000162510|uc001brz.4|MATN1_HUMAN||B2R7E3_%7C_Q5TBB9|P21941|extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_growth_%20_plate_%20_cartilage_%20_chondrocyte_%20_morphogenesis_%20_(GO:0003429)_%7C_protein_%20_complex_%20_assembly_%20_(GO:0006461)_%7C_regulation_%20_of_%20_bone_%20_mineralization_%20_(GO:0030500)|extracellular_%20_region_%20_(GO:0005576)_%7C_proteinaceous_%20_extracellular_%20_matrix_%20_(GO:0005578)|extracellular_%20_matrix_%20_structural_%20_constituent_%20_(GO:0005201)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 32110813 rs7542583 A G . PASS FUNCOTATION=[PEF1|hg19|chr1|32110813|32110813|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:32110813A>G|ENST00000373703.4|-||||||0.57356608478803|AACCTGGCAAATGGGACGCAT|PEF1_ENST00000440872.2_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000610043.1_RNA/RP11-73M7.6_ENST00000609549.1_RNA/RP11-73M7.6_ENST00000609625.1_RNA/RP11-73M7.6_ENST00000607926.1_RNA/RP11-73M7.6_ENST00000585660.1_RNA/RP11-73M7.6_ENST00000610216.1_RNA/RP11-73M7.6_ENST00000608246.1_RNA/RP11-73M7.6_ENST00000608888.1_RNA/RP11-73M7.6_ENST00000608332.1_RNA/RP11-73M7.6_ENST00000591592.1_RNA/RP11-73M7.9_ENST00000581333.1_RNA/PEF1_ENST00000492061.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000585413.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000587445.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000589462.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000591929.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000593188.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000609033.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000609338.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000609373.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||69|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_lung(1)_%7C_pancreas(22)|||||||CR542139|NM_012392.3|NP_036524.1|HGNC:30009|penta-EF-hand_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||PEF1A|"peflin"|1p35.2|2016-10-05|||||553115|ENSG00000162517|10486255_%2C__%20_11883899|NM_012392|863|EF-hand_%20_domain_%20_containing|CCDS345|OTTHUMG00000003877|553115|610033|NM_012392|Q9UBV8|ENSG00000162517|uc001bth.3|PEF1_HUMAN|||Q9UBV8|proteolysis_%20_(GO:0006508)_%7C_response_%20_to_%20_calcium_%20_ion_%20_(GO:0051592)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_calcium-dependent_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_(GO:0004198)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_protein_%20_dimerization_%20_activity_%20_(GO:0046983)_%7C_protein_%20_heterodimerization_%20_activity_%20_(GO:0046982)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 32374452 indel.2196 TC T . PASS FUNCOTATION=[PTP4A2|hg19|chr1|32374453|32374453|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:32374453delC|ENST00000602725.1|-|5|923|c.505_504delG|c.(502-504)tagfs|p.M169fs|0.36159600997506236|ACATTTCCTTCTACTGAACAC|PTP4A2_ENST00000457805.2_FRAME_SHIFT_DEL_p.M138fs/PTP4A2_ENST00000470404.1_THREE_PRIME_UTR/PTP4A2_ENST00000344035.6_FRAME_SHIFT_DEL_p.M169fs/PTP4A2_ENST00000356536.3_THREE_PRIME_UTR/AL136115.1_ENST00000391369.1_FIVE_PRIME_FLANK/RP11-84A19.4_ENST00000602889.1_LINCRNA|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U48297|||HGNC:9635|protein_%20_tyrosine_%20_phosphatase_%20_type_%20_IVA_%2C__%20_member_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PTP4A||HU-PP-1_%2C__%20_PTPCAAX2_%2C__%20_OV-1_%2C__%20_ptp-IV1a_%2C__%20_PRL-2_%2C__%20_PRL2|"phosphatase_%20_of_%20_regenerating_%20_liver_%20_2"|1p35.2|2017-10-17|||L48723||8073|ENSG00000184007|8661118_%2C__%20_9514946|NM_080391|899|Protein_%20_tyrosine_%20_phosphatases_%20_type_%20_IVA|CCDS348_%2C__%20_CCDS53292_%2C__%20_CCDS59193|OTTHUMG00000003801|8073|601584|NM_001195100|Q12974|ENSG00000184007|uc001bty.2|TP4A2_HUMAN||A8K9I8_%7C_B4DM39_%7C_D3DPP0_%7C_E9PGJ6_%7C_O00649_%7C_Q15197_%7C_Q15259_%7C_Q15260_%7C_Q15261_%7C_R4GN50|Q12974|peptidyl-tyrosine_%20_dephosphorylation_%20_(GO:0035335)|cytoplasm_%20_(GO:0005737)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_plasma_%20_membrane_%20_(GO:0005886)|prenylated_%20_protein_%20_tyrosine_%20_phosphatase_%20_activity_%20_(GO:0004727)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 32752074 rs11807976 G A . PASS FUNCOTATION=[Y_RNA|hg19|chr1|32752074|32752074|RNA||SNP|G|G|A|g.chr1:32752074G>A|ENST00000516641.1|-|||c.e1+21C>T|||0.47381546134663344|CAAATGAAGCGGCGGGAATGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 33187046 rs359952 C T . PASS FUNCOTATION=[RP11-114B7.6|hg19|chr1|33187046|33187046|RNA||SNP|C|C|T|g.chr1:33187046C>T|ENST00000421619.1|-|||c.e2+3477G>A|||0.5660847880299252|CAGCCCTCATCTCTTTTTACC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 33402441 indel.2276 AC A . PASS FUNCOTATION=[RNF19B|hg19|chr1|33402442|33402442|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:33402442delC|ENST00000373456.7|-|9|2165|c.2164delG|c.(2164-2166)gtcfs|p.V722fs|0.4912718204488778|GGCTTCAAGACAGTTTGTCCC|RNF19B_ENST00000235150.4_FRAME_SHIFT_DEL_p.V721fs/RNF19B_ENST00000356990.5_THREE_PRIME_UTR|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471059|NM_153341.2|NP_699172.2|HGNC:26886|ring_%20_finger_%20_protein_%20_19B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|IBRDC3|"IBR_%20_domain_%20_containing_%20_3"|FLJ90005||1p35.1|2014-11-19|2007-08-20|2007-08-20|AK074486||127544|ENSG00000116514|12477932|NM_153341|58|Ring_%20_finger_%20_proteins|CCDS372_%2C__%20_CCDS44107_%2C__%20_CCDS72754|OTTHUMG00000004013|127544|610872|NM_001127361|Q6ZMZ0|ENSG00000116514|uc010oho.3|RN19B_HUMAN||B7ZLB2_%7C_E9PAW6_%7C_G3XA82_%7C_Q0VG77_%7C_Q5TH44_%7C_Q5TH45_%7C_Q6P6A4_%7C_Q8N2S8_%7C_Q8WUF3|Q6ZMZ0|interferon-gamma_%20_secretion_%20_(GO:0072643)_%7C_natural_%20_killer_%20_cell_%20_mediated_%20_cytotoxicity_%20_(GO:0042267)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|cytolytic_%20_granule_%20_(GO:0044194)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|ligase_%20_activity_%20_(GO:0016874)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 33472942 rs1534893 A G . PASS FUNCOTATION=[RP1-117O3.2|hg19|chr1|33472942|33472942|RNA||SNP|A|A|G|g.chr1:33472942A>G|ENST00000427524.1|+|||c.e1+20022A>G|||0.5261845386533666|TCTAAACCCAAAGCTGCTGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 35239992 rs639126 T C . PASS FUNCOTATION=[RP1-34M23.5|hg19|chr1|35239992|35239992|RNA||SNP|T|T|C|g.chr1:35239992T>C|ENST00000542839.1|-|||c.e2+12516A>G|||0.543640897755611|TGATGCCCTATACTCTTGCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 35246297 rs1764405 A G . PASS FUNCOTATION=[GJB3|hg19|chr1|35246297|35246297|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:35246297A>G|ENST00000373362.3|+||||||0.4763092269326683|AGGCTGGGGCACTGCAGGCTT|GJB3_ENST00000373366.2_FIVE_PRIME_FLANK/RP1-34M23.5_ENST00000542839.1_RNA/AL121988.1_ENST00000401343.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||EF126148|NM_001005752.1|NP_001005752.1|HGNC:4285|gap_%20_junction_%20_protein_%20_beta_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DFNA2_%2C__%20_EKV|"gap_%20_junction_%20_protein_%2C__%20_beta_%20_3_%2C__%20_31kD_%20_(connexin_%20_31)"_%2C__%20_"gap_%20_junction_%20_protein_%2C__%20_beta_%20_3_%2C__%20_31kDa_%20_(connexin_%20_31)"_%2C__%20_"erythrokeratodermia_%20_variabilis"_%2C__%20_"gap_%20_junction_%20_protein_%2C__%20_beta_%20_3_%2C__%20_31kDa"|CX31|"connexin_%20_31"|1p34.3|2016-10-05||2015-11-09|BC012918||2707|ENSG00000188910|9843210_%2C__%20_9704026|NM_024009|314_%7C_1152|Gap_%20_junction_%20_proteins_%7C_Deafness_%20_associated_%20_genes|CCDS384|OTTHUMG00000004051|2707|603324|NM_001005752|O75712|ENSG00000188910|uc001bxx.4|CXB3_HUMAN||B2R790_%7C_Q2TAZ8|O75712|cell_%20_communication_%20_(GO:0007154)_%7C_in_%20_utero_%20_embryonic_%20_development_%20_(GO:0001701)_%7C_placenta_%20_development_%20_(GO:0001890)_%7C_sensory_%20_perception_%20_of_%20_sound_%20_(GO:0007605)_%7C_skin_%20_development_%20_(GO:0043588)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|connexon_%20_complex_%20_(GO:0005922)_%7C_cytoplasm_%20_(GO:0005737)_%7C_gap_%20_junction_%20_(GO:0005921)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|gap_%20_junction_%20_channel_%20_activity_%20_(GO:0005243)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 35253376 rs483721 C T . PASS FUNCOTATION=[RP1-34M23.5|hg19|chr1|35253376|35253376|RNA||SNP|C|C|T|g.chr1:35253376C>T|ENST00000542839.1|-|||c.e1-213G>A|||0.5386533665835411|ACAGGGAATACGGTCAGCATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 35444037 rs4072108 T C . PASS FUNCOTATION=[RP11-244H3.1|hg19|chr1|35444037|35444037|RNA||SNP|T|T|C|g.chr1:35444037T>C|ENST00000417456.1|-|||c.e2+1034A>G|||0.4513715710723192|TCTGGGCATATTCCTACCCTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 35497529 kgp11705169 G A . PASS FUNCOTATION=[ZMYM6|hg19|chr1|35497529|35497529|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:35497529G>A|ENST00000357182.4|-|1|||||0.5685785536159601|CCAACGCAACGACCGGCCAAC|ZMYM6_ENST00000373340.2_FIVE_PRIME_UTR/ZMYM6_ENST00000317538.5_FIVE_PRIME_FLANK/ZMYM6_ENST00000373333.1_FIVE_PRIME_FLANK/ZMYM6_ENST00000487874.1_FIVE_PRIME_FLANK/ZMYM6_ENST00000493328.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||DQ486153|NM_007167.3|NP_009098.3|HGNC:13050|zinc_%20_finger_%20_MYM-type_%20_containing_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZNF258|"zinc_%20_finger_%20_protein_%20_258"|ZNF198L4_%2C__%20_MYM_%2C__%20_Buster2_%2C__%20_ZBED7|"zinc_%20_finger_%2C__%20_BED-type_%20_containing_%20_7"|1p34.3|2016-10-05|2005-09-12|2016-02-15|AF055470||9204|ENSG00000163867|10486218_%2C__%20_23533661|NM_007167|86|Zinc_%20_fingers_%20_MYM-type|CCDS387|OTTHUMG00000004163|9204|613567|NM_007167|O95789|ENSG00000163867|uc001byh.4|ZMYM6_HUMAN||B4DRJ6_%7C_Q32Q23_%7C_Q4G108_%7C_Q5SVZ9_%7C_Q5SW00_%7C_Q69YL4_%7C_Q96IY0_%7C_Q9NWF1_%7C_Q9P2J4|O95789|cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_regulation_%20_of_%20_cell_%20_morphogenesis_%20_(GO:0022604)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 35854642 indel.2376 TG T . PASS FUNCOTATION=[ZMYM4|hg19|chr1|35854643|35854643|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:35854643delG|ENST00000314607.6|+|14|2475|c.2396delG|c.(2395-2397)tgtfs|p.C799fs|0.29925187032418954|GAGTTCTGTTGTGAAGAATGC|ZMYM4_ENST00000373297.2_FRAME_SHIFT_DEL_p.C710fs|||||||||||||||||||||||||335|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(37)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471059|NM_005095.2|NP_005086.2|HGNC:13055|zinc_%20_finger_%20_MYM-type_%20_containing_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZNF262|"zinc_%20_finger_%20_protein_%20_262"|KIAA0425_%2C__%20_ZNF198L3_%2C__%20_MYM||1p34.3|2016-10-05|2005-12-19|2016-02-15|AB007885||9202|ENSG00000146463|10449923|NM_005095|86|Zinc_%20_fingers_%20_MYM-type|CCDS389|OTTHUMG00000004241|9202|613568|NM_005095|Q5VZL5|ENSG00000146463|uc001byt.3|ZMYM4_HUMAN||A0JP19_%7C_A0JP20_%7C_O43308_%7C_Q5T5E1_%7C_Q5T5E2_%7C_Q7L3Q4|Q5VZL5|cytoskeleton_%20_organization_%20_(GO:0007010)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_regulation_%20_of_%20_cell_%20_morphogenesis_%20_(GO:0022604)|cytoplasm_%20_(GO:0005737)_%7C_nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 36291074 indel.2402 CA C . PASS FUNCOTATION=[AGO4|hg19|chr1|36291075|36291075|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:36291075delA|ENST00000373210.3|+|4|712|c.468delA|c.(466-468)acafs|p.R157fs|0.3915211970074813|ATGTTATCACAAGACACCTTC||||||||||||||||||||||||||||||||||CH471059|NM_017629.3|NP_060099.2|HGNC:18424|argonaute_%20_4_%2C__%20_RISC_%20_catalytic_%20_component|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EIF2C4|"eukaryotic_%20_translation_%20_initiation_%20_factor_%20_2C_%2C__%20_4"_%2C__%20_"argonaute_%20_RISC_%20_catalytic_%20_component_%20_4"|hAGO4_%2C__%20_KIAA1567_%2C__%20_FLJ20033|"argonaute_%20_4"|1p34.3|2016-10-05|2013-02-15|2015-11-27|AB046787||192670|ENSG00000134698|12906857|NM_017629|408|Argonaute/PIWI_%20_family|CCDS397|OTTHUMG00000004243|192670|607356|NM_017629|Q9HCK5|ENSG00000134698|uc001bzj.3|AGO4_HUMAN||A7MD27|Q9HCK5|epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_mRNA_%20_catabolic_%20_process_%20_(GO:0006402)_%7C_negative_%20_regulation_%20_of_%20_translation_%20_involved_%20_in_%20_gene_%20_silencing_%20_by_%20_miRNA_%20_(GO:0035278)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)|cytoplasmic_%20_mRNA_%20_processing_%20_body_%20_(GO:0000932)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_micro-ribonucleoprotein_%20_complex_%20_(GO:0035068)_%7C_RISC_%20_complex_%20_(GO:0016442)|miRNA_%20_binding_%20_(GO:0035198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 36558985 exm44727 T G . PASS FUNCOTATION=[ADPRHL2|hg19|chr1|36558985|36558985|NONSTOP||SNP|T|T|G|g.chr1:36558985T>G|ENST00000373178.4|+|6|1120|c.1090T>G|c.(1090-1092)Tga>Gga|p.*364G|0.571072319201995|CCAGAAGAGTTGATGAGGGCT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR457237|NM_017825.2|NP_060295.1|HGNC:21304|ADP-ribosylhydrolase_%20_like_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ARH3_%2C__%20_FLJ20446|"ADP-ribosylarginine_%20_hydrolase_%20_like_%20_2"|1p34.3|2016-06-02|||AJ427295||54936|ENSG00000116863|12070318_%2C__%20_16278211|NM_017825|||CCDS402|OTTHUMG00000007628|54936|610624|NM_017825|Q9NX46|ENSG00000116863|uc001bzt.4|ARHL2_HUMAN||Q53G94_%7C_Q6IAB8_%7C_Q9BY47|Q9NX46||mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_poly(ADP-ribose)_%20_glycohydrolase_%20_activity_%20_(GO:0004649)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|ADPRHL2:54936|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|183554661|36558985|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000205040436000100|1|false|135|rs183554661|] +1 36789546 rs12116935 A G . PASS FUNCOTATION=[RP11-268J15.5|hg19|chr1|36789546|36789546|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:36789546A>G|ENST00000373137.2|+|1|||||0.5935162094763092|CGCAGATCAAATAAACGGAGT|EVA1B_ENST00000270824.1_FIVE_PRIME_UTR/SH3D21_ENST00000474766.1_INTRON/EVA1B_ENST00000490466.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||AY240960||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 36929988 rs3806289 T C . PASS FUNCOTATION=[MRPS15|hg19|chr1|36929988|36929988|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:36929988T>C|ENST00000373116.5|-|1|||||0.6384039900249376|ATCGAGGCAGTTGCAATACCG|MRPS15_ENST00000488606.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471059|NM_031280.3|NP_112570.2|HGNC:14504|mitochondrial_%20_ribosomal_%20_protein_%20_S15|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ11564||1p34.3|2015-08-25|||AB049946||64960|ENSG00000116898||NM_031280|646|Mitochondrial_%20_ribosomal_%20_proteins|CCDS411|OTTHUMG00000008042|64960|611979|NM_031280|P82914|ENSG00000116898|uc001cas.3|RT15_HUMAN||B2RD82_%7C_Q9H2K1|P82914|translation_%20_(GO:0006412)|mitochondrial_%20_small_%20_ribosomal_%20_subunit_%20_(GO:0005763)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nuclear_%20_membrane_%20_(GO:0031965)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_structural_%20_constituent_%20_of_%20_ribosome_%20_(GO:0003735)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 37922859 rs2660569 C T . PASS FUNCOTATION=[RP11-422J8.1|hg19|chr1|37922859|37922859|RNA||SNP|C|C|T|g.chr1:37922859C>T|ENST00000424989.1|-|||c.e2+799G>A|||0.46384039900249374|TCATCTCATCCGCTTTAGGGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 37939094 rs6681785 C T . PASS FUNCOTATION=[ZC3H12A|hg19|chr1|37939094|37939094|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:37939094C>T|ENST00000373087.6|+||||||0.44139650872817954|TCTGTGTTTTCTCTCTCTCTC|RP11-422J8.1_ENST00000424989.1_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||FJ695517|NM_025079.2|NP_079355.2|HGNC:26259|zinc_%20_finger_%20_CCCH-type_%20_containing_%20_12A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ23231_%2C__%20_MCPIP1|"MCP_%20_induced_%20_protein_%20_1"|1p34.3|2014-11-19|||||80149|ENSG00000163874|18178554_%2C__%20_22055188|NM_025079|73|Zinc_%20_fingers_%20_CCCH-type|CCDS417|OTTHUMG00000004221|80149|610562|NM_001323550|Q5D1E8|ENSG00000163874|uc001cbb.5|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 37939173 rs2492301 T C . PASS FUNCOTATION=[ZC3H12A|hg19|chr1|37939173|37939173|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:37939173T>C|ENST00000373087.6|+||||||0.49625935162094764|CTGCCCTCAGTCACTCGTGGT|RP11-422J8.1_ENST00000424989.1_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||FJ695517|NM_025079.2|NP_079355.2|HGNC:26259|zinc_%20_finger_%20_CCCH-type_%20_containing_%20_12A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ23231_%2C__%20_MCPIP1|"MCP_%20_induced_%20_protein_%20_1"|1p34.3|2014-11-19|||||80149|ENSG00000163874|18178554_%2C__%20_22055188|NM_025079|73|Zinc_%20_fingers_%20_CCCH-type|CCDS417|OTTHUMG00000004221|80149|610562|NM_001323550|Q5D1E8|ENSG00000163874|uc001cbb.5|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 38456106 rs4072980 G A . PASS FUNCOTATION=[SF3A3|hg19|chr1|38456106|38456106|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:38456106G>A|ENST00000373019.4|-|1|||||0.5386533665835411|AGGAAAATGGGAATAGTGGGG|SF3A3_ENST00000448721.2_FIVE_PRIME_FLANK/RNU6-510P_ENST00000391239.1_FIVE_PRIME_FLANK/SF3A3_ENST00000489537.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||X81789|NM_006802.2|NP_006793.1|HGNC:10767|splicing_%20_factor_%20_3a_%20_subunit_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"splicing_%20_factor_%20_3a_%2C__%20_subunit_%20_3_%2C__%20_60kD"_%2C__%20_"splicing_%20_factor_%20_3a_%2C__%20_subunit_%20_3_%2C__%20_60kDa"|SF3a60_%2C__%20_SAP61_%2C__%20_PRP9_%2C__%20_PRPF9||1p34.3|2015-11-09||2015-11-09|U08815||10946|ENSG00000183431|7816610_%2C__%20_8022796|NM_006802|1501|U2_%20_small_%20_nucleolar_%20_ribonucleoprotein_%20_|CCDS428|OTTHUMG00000004438|10946|605596|NM_001320830|Q12874|ENSG00000183431|uc001cci.4|SF3A3_HUMAN||D3DPT5_%7C_Q15460_%7C_Q5VT87|Q12874|gene_%20_expression_%20_(GO:0010467)_%7C_mRNA_%20_3'-splice_%20_site_%20_recognition_%20_(GO:0000389)_%7C_mRNA_%20_processing_%20_(GO:0006397)_%7C_mRNA_%20_splicing_%2C__%20_via_%20_spliceosome_%20_(GO:0000398)_%7C_RNA_%20_splicing_%20_(GO:0008380)_%7C_RNA_%20_splicing_%2C__%20_via_%20_transesterification_%20_reactions_%20_(GO:0000375)|catalytic_%20_step_%20_2_%20_spliceosome_%20_(GO:0071013)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_spliceosomal_%20_complex_%20_(GO:0005681)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 39305315 indel.2566 AC A . PASS FUNCOTATION=[RRAGC|hg19|chr1|39305316|39305316|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:39305316delC|ENST00000373001.3|-|7|1287|c.1109delG|c.(1108-1110)ggtfs|p.G370fs|0.4688279301745636|AGAAGTCACACCCACCTCAAA|RRAGC_ENST00000474456.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_022157.3|NP_071440.1|HGNC:19902|Ras_%20_related_%20_GTP_%20_binding_%20_C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Ras-related_%20_GTP_%20_binding_%20_C"|GTR2_%2C__%20_FLJ13311||1p34.3|2016-10-05||2016-02-23|AF323609||64121|ENSG00000116954|11073942|NM_022157|||CCDS430|OTTHUMG00000000490|64121|608267|NM_001271851|Q9HB90|ENSG00000116954|uc001ccq.4|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 39350742 rs4970633 C T . PASS FUNCOTATION=[GJA9|hg19|chr1|39350742|39350742|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:39350742C>T|ENST00000357771.3|-||||||0.32917705735660846|CTATATCTAACTAAGTGTATA|GJA9_ENST00000454994.2_FIVE_PRIME_FLANK/RP5-864K19.4_ENST00000433671.2_RNA/MYCBP_ENST00000489803.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||22|central_nervous_system(22)|||||||CH471059|NM_030772.4|NP_110399.2|HGNC:19155|gap_%20_junction_%20_protein_%20_alpha_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GJA10|"gap_%20_junction_%20_protein_%2C__%20_alpha_%20_10_%2C__%20_59kDa"_%2C__%20_"gap_%20_junction_%20_protein_%2C__%20_alpha_%20_9_%2C__%20_59kDa"|CX59_%2C__%20_CX58|"connexin_%20_59"|1p34.3|2016-10-05|2007-11-06|2015-11-09|AF179597||81025|ENSG00000131233||NM_030772|314|Gap_%20_junction_%20_proteins|CCDS432|OTTHUMG00000000482|81025|611923|NM_030772|P57773|ENSG00000131233|uc057ezp.1|CXA9_HUMAN||B2R722_%7C_B3KVQ2_%7C_Q5TA63_%7C_Q96KG0|P57773|cell_%20_communication_%20_(GO:0007154)|connexon_%20_complex_%20_(GO:0005922)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 39797335 indel.2587 AT A . PASS FUNCOTATION=[MACF1|hg19|chr1|39797336|39797336|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:39797336delT|ENST00000372915.3|+|36|5177|c.5091delT|c.(5089-5091)tatfs|p.R1699fs|0.44139650872817954|TAGAGTCTTATCTTAGAACAT|MACF1_ENST00000567887.1_FRAME_SHIFT_DEL_p.R1731fs/MACF1_ENST00000564288.1_FRAME_SHIFT_DEL_p.R1694fs/MACF1_ENST00000289893.4_FRAME_SHIFT_DEL_p.R134fs/MACF1_ENST00000361689.2_INTRON/MACF1_ENST00000545844.1_INTRON/MACF1_ENST00000317713.7_INTRON/MACF1_ENST00000539005.1_INTRON/MACF1_ENST00000476350.1_INTRON|||||||||||||||||||||||||374|biliary_tract(2)_%7C_breast(50)_%7C_central_nervous_system(45)_%7C_large_intestine(37)_%7C_lung(98)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||AL442071|||HGNC:13664|microtubule-actin_%20_crosslinking_%20_factor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA0465_%2C__%20_ACF7_%2C__%20_ABP620_%2C__%20_KIAA1251_%2C__%20_MACF_%2C__%20_FLJ45612_%2C__%20_FLJ46776|"actin_%20_cross-linking_%20_factor"_%2C__%20_"620_%20_kDa_%20_actin_%20_binding_%20_protein"_%2C__%20_"macrophin_%20_1"_%2C__%20_"trabeculin-alpha"_%2C__%20_"actin_%20_cross-linking_%20_family_%20_protein_%20_7"|1p34.3|2016-10-05|||AB007934||23499|ENSG00000127603|7635207_%2C__%20_10529403|NM_033044|939_%7C_863|Plakins_%7C_EF-hand_%20_domain_%20_containing|CCDS435|OTTHUMG00000007754|23499|608271|NM_012090|Q9UPN3|ENSG00000127603|uc057ezw.1|MACF1_HUMAN||B1ALC5_%7C_E9PJT0_%7C_O75053_%7C_Q5VW20_%7C_Q8WXY1_%7C_Q8WXY2_%7C_Q96PK2_%7C_Q9H540_%7C_Q9UKP0_%7C_Q9ULG9|Q9UPN3|ATP_%20_catabolic_%20_process_%20_(GO:0006200)_%7C_cell_%20_cycle_%20_arrest_%20_(GO:0007050)_%7C_Golgi_%20_to_%20_plasma_%20_membrane_%20_protein_%20_transport_%20_(GO:0043001)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_regulation_%20_of_%20_epithelial_%20_cell_%20_migration_%20_(GO:0010632)_%7C_regulation_%20_of_%20_focal_%20_adhesion_%20_assembly_%20_(GO:0051893)_%7C_regulation_%20_of_%20_microtubule-based_%20_process_%20_(GO:0032886)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055)_%7C_wound_%20_healing_%20_(GO:0042060)|cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_microtubule_%20_(GO:0005874)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_ruffle_%20_membrane_%20_(GO:0032587)|actin_%20_binding_%20_(GO:0003779)_%7C_actin_%20_filament_%20_binding_%20_(GO:0051015)_%7C_ATPase_%20_activity_%20_(GO:0016887)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 39800498 indel.2592 TG T . PASS FUNCOTATION=[MACF1|hg19|chr1|39800499|39800499|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:39800499delG|ENST00000372915.3|+|36|8340|c.8254delG|c.(8254-8256)gagfs|p.E2752fs|0.38902743142144636|AGAAGCTATTGAGAAAAGACT|MACF1_ENST00000567887.1_FRAME_SHIFT_DEL_p.E2784fs/MACF1_ENST00000564288.1_FRAME_SHIFT_DEL_p.E2747fs/MACF1_ENST00000289893.4_FRAME_SHIFT_DEL_p.E1187fs/MACF1_ENST00000361689.2_INTRON/MACF1_ENST00000545844.1_INTRON/MACF1_ENST00000317713.7_INTRON/MACF1_ENST00000539005.1_INTRON/MACF1_ENST00000476350.1_INTRON|||||||||||||||||||||||||374|biliary_tract(2)_%7C_breast(50)_%7C_central_nervous_system(45)_%7C_large_intestine(37)_%7C_lung(98)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||AL442071|||HGNC:13664|microtubule-actin_%20_crosslinking_%20_factor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA0465_%2C__%20_ACF7_%2C__%20_ABP620_%2C__%20_KIAA1251_%2C__%20_MACF_%2C__%20_FLJ45612_%2C__%20_FLJ46776|"actin_%20_cross-linking_%20_factor"_%2C__%20_"620_%20_kDa_%20_actin_%20_binding_%20_protein"_%2C__%20_"macrophin_%20_1"_%2C__%20_"trabeculin-alpha"_%2C__%20_"actin_%20_cross-linking_%20_family_%20_protein_%20_7"|1p34.3|2016-10-05|||AB007934||23499|ENSG00000127603|7635207_%2C__%20_10529403|NM_033044|939_%7C_863|Plakins_%7C_EF-hand_%20_domain_%20_containing|CCDS435|OTTHUMG00000007754|23499|608271|NM_012090|Q9UPN3|ENSG00000127603|uc057ezw.1|MACF1_HUMAN||B1ALC5_%7C_E9PJT0_%7C_O75053_%7C_Q5VW20_%7C_Q8WXY1_%7C_Q8WXY2_%7C_Q96PK2_%7C_Q9H540_%7C_Q9UKP0_%7C_Q9ULG9|Q9UPN3|ATP_%20_catabolic_%20_process_%20_(GO:0006200)_%7C_cell_%20_cycle_%20_arrest_%20_(GO:0007050)_%7C_Golgi_%20_to_%20_plasma_%20_membrane_%20_protein_%20_transport_%20_(GO:0043001)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_regulation_%20_of_%20_epithelial_%20_cell_%20_migration_%20_(GO:0010632)_%7C_regulation_%20_of_%20_focal_%20_adhesion_%20_assembly_%20_(GO:0051893)_%7C_regulation_%20_of_%20_microtubule-based_%20_process_%20_(GO:0032886)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055)_%7C_wound_%20_healing_%20_(GO:0042060)|cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_microtubule_%20_(GO:0005874)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_ruffle_%20_membrane_%20_(GO:0032587)|actin_%20_binding_%20_(GO:0003779)_%7C_actin_%20_filament_%20_binding_%20_(GO:0051015)_%7C_ATPase_%20_activity_%20_(GO:0016887)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 39806577 indel.2597 CA C . PASS FUNCOTATION=[MACF1|hg19|chr1|39806578|39806578|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:39806578delA|ENST00000372915.3|+|39|10635|c.10549delA|c.(10549-10551)agtfs|p.S3517fs|0.3915211970074813|GGGATCTAACAGTGAAATAGA|MACF1_ENST00000567887.1_FRAME_SHIFT_DEL_p.S3549fs/MACF1_ENST00000564288.1_FRAME_SHIFT_DEL_p.S3512fs/MACF1_ENST00000289893.4_FRAME_SHIFT_DEL_p.S1952fs/MACF1_ENST00000361689.2_INTRON/MACF1_ENST00000545844.1_INTRON/MACF1_ENST00000317713.7_INTRON/MACF1_ENST00000539005.1_INTRON/MACF1_ENST00000476350.1_INTRON|||||||||||||||||||||||||374|biliary_tract(2)_%7C_breast(50)_%7C_central_nervous_system(45)_%7C_large_intestine(37)_%7C_lung(98)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||AL442071|||HGNC:13664|microtubule-actin_%20_crosslinking_%20_factor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA0465_%2C__%20_ACF7_%2C__%20_ABP620_%2C__%20_KIAA1251_%2C__%20_MACF_%2C__%20_FLJ45612_%2C__%20_FLJ46776|"actin_%20_cross-linking_%20_factor"_%2C__%20_"620_%20_kDa_%20_actin_%20_binding_%20_protein"_%2C__%20_"macrophin_%20_1"_%2C__%20_"trabeculin-alpha"_%2C__%20_"actin_%20_cross-linking_%20_family_%20_protein_%20_7"|1p34.3|2016-10-05|||AB007934||23499|ENSG00000127603|7635207_%2C__%20_10529403|NM_033044|939_%7C_863|Plakins_%7C_EF-hand_%20_domain_%20_containing|CCDS435|OTTHUMG00000007754|23499|608271|NM_012090|Q9UPN3|ENSG00000127603|uc057ezw.1|MACF1_HUMAN||B1ALC5_%7C_E9PJT0_%7C_O75053_%7C_Q5VW20_%7C_Q8WXY1_%7C_Q8WXY2_%7C_Q96PK2_%7C_Q9H540_%7C_Q9UKP0_%7C_Q9ULG9|Q9UPN3|ATP_%20_catabolic_%20_process_%20_(GO:0006200)_%7C_cell_%20_cycle_%20_arrest_%20_(GO:0007050)_%7C_Golgi_%20_to_%20_plasma_%20_membrane_%20_protein_%20_transport_%20_(GO:0043001)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_regulation_%20_of_%20_epithelial_%20_cell_%20_migration_%20_(GO:0010632)_%7C_regulation_%20_of_%20_focal_%20_adhesion_%20_assembly_%20_(GO:0051893)_%7C_regulation_%20_of_%20_microtubule-based_%20_process_%20_(GO:0032886)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055)_%7C_wound_%20_healing_%20_(GO:0042060)|cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_microtubule_%20_(GO:0005874)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_ruffle_%20_membrane_%20_(GO:0032587)|actin_%20_binding_%20_(GO:0003779)_%7C_actin_%20_filament_%20_binding_%20_(GO:0051015)_%7C_ATPase_%20_activity_%20_(GO:0016887)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 39992808 rs1180341 T C . PASS FUNCOTATION=[RP11-69E11.4|hg19|chr1|39992808|39992808|RNA||SNP|T|T|C|g.chr1:39992808T>C|ENST00000458207.1|-|||c.e2-1880A>G|||0.5610972568578554|CCACCAAAATTGGCGTCACCC|RP11-69E11.4_ENST00000440190.1_RNA/RP11-69E11.4_ENST00000450157.1_RNA/RP11-69E11.4_ENST00000431553.1_RNA/RP11-69E11.4_ENST00000417869.1_RNA/RP11-69E11.4_ENST00000331856.2_FIVE_PRIME_FLANK/RP11-69E11.4_ENST00000441741.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 40546155 exm48877 C T . PASS FUNCOTATION=[PPT1|hg19|chr1|40546155|40546155|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:40546155C>T|ENST00000530076.1|-|2|||||0.5012468827930174|TCGGCTTGCACGAGGCTGTAG|PPT1_ENST00000433473.3_MISSENSE_p.V181M/PPT1_ENST00000449045.2_MISSENSE_p.V78M/PPT1_ENST00000372775.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(12)_%7C_pancreas(22)|||||||AL512599|||HGNC:9325|palmitoyl-protein_%20_thioesterase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PPT||CLN1_%2C__%20_INCL|"ceroid-lipofuscinosis_%2C__%20_neuronal_%20_1_%2C__%20_infantile"|1p34.2|2017-03-24||2008-07-31|U44772|3.1.2.22|5538|ENSG00000131238|7637805_%2C__%20_8325646|NM_000310|||CCDS447_%2C__%20_CCDS44119|OTTHUMG00000004495|5538|600722|NM_000310|P50897|ENSG00000131238|uc001cfb.3|PPT1_HUMAN||B4DY24_%7C_Q6FGQ4|P50897|adult_%20_locomotory_%20_behavior_%20_(GO:0008344)_%7C_associative_%20_learning_%20_(GO:0008306)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_cell_%20_death_%20_(GO:0008219)_%7C_cellular_%20_protein_%20_catabolic_%20_process_%20_(GO:0044257)_%7C_cofactor_%20_metabolic_%20_process_%20_(GO:0051186)_%7C_cofactor_%20_transport_%20_(GO:0051181)_%7C_grooming_%20_behavior_%20_(GO:0007625)_%7C_lipid_%20_catabolic_%20_process_%20_(GO:0016042)_%7C_lysosomal_%20_lumen_%20_acidification_%20_(GO:0007042)_%7C_membrane_%20_raft_%20_organization_%20_(GO:0031579)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_neuron_%20_development_%20_(GO:0048666)_%7C_neurotransmitter_%20_secretion_%20_(GO:0007269)_%7C_pinocytosis_%20_(GO:0006907)_%7C_positive_%20_regulation_%20_of_%20_pinocytosis_%20_(GO:0048549)_%7C_positive_%20_regulation_%20_of_%20_receptor-mediated_%20_endocytosis_%20_(GO:0048260)_%7C_protein_%20_catabolic_%20_process_%20_(GO:0030163)_%7C_protein_%20_depalmitoylation_%20_(GO:0002084)_%7C_protein_%20_transport_%20_(GO:0015031)_%7C_receptor-mediated_%20_endocytosis_%20_(GO:0006898)_%7C_regulation_%20_of_%20_phospholipase_%20_A2_%20_activity_%20_(GO:0032429)_%7C_regulation_%20_of_%20_synapse_%20_structure_%20_and_%20_activity_%20_(GO:0050803)_%7C_sphingolipid_%20_catabolic_%20_process_%20_(GO:0030149)_%7C_visual_%20_perception_%20_(GO:0007601)|axon_%20_(GO:0030424)_%7C_cytosol_%20_(GO:0005829)_%7C_dendrite_%20_(GO:0030425)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_lysosome_%20_(GO:0005764)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_nucleus_%20_(GO:0005634)_%7C_synaptic_%20_vesicle_%20_(GO:0008021)|palmitoyl-(protein)_%20_hydrolase_%20_activity_%20_(GO:0008474)_%7C_palmitoyl-CoA_%20_hydrolase_%20_activity_%20_(GO:0016290)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 40546155 newrs148412181 C T . PASS FUNCOTATION=[PPT1|hg19|chr1|40546155|40546155|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:40546155C>T|ENST00000530076.1|-|2|||||0.5012468827930174|TCGGCTTGCACGAGGCTGTAG|PPT1_ENST00000433473.3_MISSENSE_p.V181M/PPT1_ENST00000449045.2_MISSENSE_p.V78M/PPT1_ENST00000372775.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(12)_%7C_pancreas(22)|||||||AL512599|||HGNC:9325|palmitoyl-protein_%20_thioesterase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PPT||CLN1_%2C__%20_INCL|"ceroid-lipofuscinosis_%2C__%20_neuronal_%20_1_%2C__%20_infantile"|1p34.2|2017-03-24||2008-07-31|U44772|3.1.2.22|5538|ENSG00000131238|7637805_%2C__%20_8325646|NM_000310|||CCDS447_%2C__%20_CCDS44119|OTTHUMG00000004495|5538|600722|NM_000310|P50897|ENSG00000131238|uc001cfb.3|PPT1_HUMAN||B4DY24_%7C_Q6FGQ4|P50897|adult_%20_locomotory_%20_behavior_%20_(GO:0008344)_%7C_associative_%20_learning_%20_(GO:0008306)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_cell_%20_death_%20_(GO:0008219)_%7C_cellular_%20_protein_%20_catabolic_%20_process_%20_(GO:0044257)_%7C_cofactor_%20_metabolic_%20_process_%20_(GO:0051186)_%7C_cofactor_%20_transport_%20_(GO:0051181)_%7C_grooming_%20_behavior_%20_(GO:0007625)_%7C_lipid_%20_catabolic_%20_process_%20_(GO:0016042)_%7C_lysosomal_%20_lumen_%20_acidification_%20_(GO:0007042)_%7C_membrane_%20_raft_%20_organization_%20_(GO:0031579)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_neuron_%20_development_%20_(GO:0048666)_%7C_neurotransmitter_%20_secretion_%20_(GO:0007269)_%7C_pinocytosis_%20_(GO:0006907)_%7C_positive_%20_regulation_%20_of_%20_pinocytosis_%20_(GO:0048549)_%7C_positive_%20_regulation_%20_of_%20_receptor-mediated_%20_endocytosis_%20_(GO:0048260)_%7C_protein_%20_catabolic_%20_process_%20_(GO:0030163)_%7C_protein_%20_depalmitoylation_%20_(GO:0002084)_%7C_protein_%20_transport_%20_(GO:0015031)_%7C_receptor-mediated_%20_endocytosis_%20_(GO:0006898)_%7C_regulation_%20_of_%20_phospholipase_%20_A2_%20_activity_%20_(GO:0032429)_%7C_regulation_%20_of_%20_synapse_%20_structure_%20_and_%20_activity_%20_(GO:0050803)_%7C_sphingolipid_%20_catabolic_%20_process_%20_(GO:0030149)_%7C_visual_%20_perception_%20_(GO:0007601)|axon_%20_(GO:0030424)_%7C_cytosol_%20_(GO:0005829)_%7C_dendrite_%20_(GO:0030425)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_lysosome_%20_(GO:0005764)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_nucleus_%20_(GO:0005634)_%7C_synaptic_%20_vesicle_%20_(GO:0008021)|palmitoyl-(protein)_%20_hydrolase_%20_activity_%20_(GO:0008474)_%7C_palmitoyl-CoA_%20_hydrolase_%20_activity_%20_(GO:0016290)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 40547950 rs3131660 C T . PASS FUNCOTATION=[PPT1|hg19|chr1|40547950|40547950|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:40547950C>T|ENST00000530076.1|-|1|||||0.4513715710723192|ACAGAGCCAGCTACGTCAGAG|PPT1_ENST00000433473.3_INTRON/PPT1_ENST00000449045.2_INTRON/PPT1_ENST00000372775.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(12)_%7C_pancreas(22)|||||||AL512599|||HGNC:9325|palmitoyl-protein_%20_thioesterase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PPT||CLN1_%2C__%20_INCL|"ceroid-lipofuscinosis_%2C__%20_neuronal_%20_1_%2C__%20_infantile"|1p34.2|2017-03-24||2008-07-31|U44772|3.1.2.22|5538|ENSG00000131238|7637805_%2C__%20_8325646|NM_000310|||CCDS447_%2C__%20_CCDS44119|OTTHUMG00000004495|5538|600722|NM_000310|P50897|ENSG00000131238|uc001cfb.3|PPT1_HUMAN||B4DY24_%7C_Q6FGQ4|P50897|adult_%20_locomotory_%20_behavior_%20_(GO:0008344)_%7C_associative_%20_learning_%20_(GO:0008306)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_cell_%20_death_%20_(GO:0008219)_%7C_cellular_%20_protein_%20_catabolic_%20_process_%20_(GO:0044257)_%7C_cofactor_%20_metabolic_%20_process_%20_(GO:0051186)_%7C_cofactor_%20_transport_%20_(GO:0051181)_%7C_grooming_%20_behavior_%20_(GO:0007625)_%7C_lipid_%20_catabolic_%20_process_%20_(GO:0016042)_%7C_lysosomal_%20_lumen_%20_acidification_%20_(GO:0007042)_%7C_membrane_%20_raft_%20_organization_%20_(GO:0031579)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_neuron_%20_development_%20_(GO:0048666)_%7C_neurotransmitter_%20_secretion_%20_(GO:0007269)_%7C_pinocytosis_%20_(GO:0006907)_%7C_positive_%20_regulation_%20_of_%20_pinocytosis_%20_(GO:0048549)_%7C_positive_%20_regulation_%20_of_%20_receptor-mediated_%20_endocytosis_%20_(GO:0048260)_%7C_protein_%20_catabolic_%20_process_%20_(GO:0030163)_%7C_protein_%20_depalmitoylation_%20_(GO:0002084)_%7C_protein_%20_transport_%20_(GO:0015031)_%7C_receptor-mediated_%20_endocytosis_%20_(GO:0006898)_%7C_regulation_%20_of_%20_phospholipase_%20_A2_%20_activity_%20_(GO:0032429)_%7C_regulation_%20_of_%20_synapse_%20_structure_%20_and_%20_activity_%20_(GO:0050803)_%7C_sphingolipid_%20_catabolic_%20_process_%20_(GO:0030149)_%7C_visual_%20_perception_%20_(GO:0007601)|axon_%20_(GO:0030424)_%7C_cytosol_%20_(GO:0005829)_%7C_dendrite_%20_(GO:0030425)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_lysosome_%20_(GO:0005764)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_nucleus_%20_(GO:0005634)_%7C_synaptic_%20_vesicle_%20_(GO:0008021)|palmitoyl-(protein)_%20_hydrolase_%20_activity_%20_(GO:0008474)_%7C_palmitoyl-CoA_%20_hydrolase_%20_activity_%20_(GO:0016290)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 40717196 var_1_40717196 CT C . PASS FUNCOTATION=[TMCO2|hg19|chr1|40717197|40717197|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:40717197delT|ENST00000372766.3|+|2|572|c.480delT|c.(478-480)tctfs|p.E161fs|0.43640897755610975|ATTGCTCCTCTGAGCCCTACT|TMCO2_ENST00000468258.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC108666|NM_001008740.3|NP_001008740.1|HGNC:23312|transmembrane_%20_and_%20_coiled-coil_%20_domains_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||dJ39G22.2||1p34.2|2015-08-26|||AL050341||127391|ENSG00000188800||NM_001008740|||CCDS30684|OTTHUMG00000005764|127391||NM_001008740|Q7Z6W1|ENSG00000188800|uc001cfe.3|TMCO2_HUMAN|||Q7Z6W1||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 40722795 rs926830 G A . PASS FUNCOTATION=[ZMPSTE24|hg19|chr1|40722795|40722795|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:40722795G>A|ENST00000372759.3|+||||||0.3092269326683292|GCAGGGTTGAGAAATTCAAGA|RP1-39G22.7_ENST00000567508.1_RNA/ZMPSTE24_ENST00000479131.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||Y13834|NM_005857.4|NP_005848.2|HGNC:12877|zinc_%20_metallopeptidase_%20_STE24|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"zinc_%20_metalloproteinase_%20_(STE24_%20_homolog_%2C__%20_yeast)"_%2C__%20_"zinc_%20_metallopeptidase_%20_(STE24_%20_homolog_%2C__%20_yeast)"_%2C__%20_"zinc_%20_metallopeptidase_%20_STE24_%20_homolog_%20_(S._%20_cerevisiae)"|FACE-1_%2C__%20_Ste24p_%2C__%20_STE24_%2C__%20_HGPS_%2C__%20_PRO1|"Hutchinson-Gilford_%20_progeria_%20_syndrome"_%2C__%20_"CAAX_%20_prenyl_%20_protease_%20_1_%20_homolog"|1p34.2|2017-03-24||2012-12-10|Y13834|3.4.24.84|10269|ENSG00000084073|10373325_%2C__%20_9700155_%2C__%20_16671095||||CCDS449|OTTHUMG00000005762|10269|606480|NM_005857|O75844|ENSG00000084073|uc001cfg.5|FACE1_HUMAN||B3KQI7_%7C_D3DPU7_%7C_Q8NDZ8_%7C_Q9UBQ2|O75844|CAAX-box_%20_protein_%20_processing_%20_(GO:0071586)_%7C_nuclear_%20_envelope_%20_organization_%20_(GO:0006998)_%7C_prenylated_%20_protein_%20_catabolic_%20_process_%20_(GO:0030327)_%7C_proteolysis_%20_(GO:0006508)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_metalloexopeptidase_%20_activity_%20_(GO:0008235)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 40930624 rs2982502 A G . PASS FUNCOTATION=[RP1-228H13.5|hg19|chr1|40930624|40930624|RNA||SNP|A|A|G|g.chr1:40930624A>G|ENST00000565390.1|+|||c.e1+633A>G|||0.43640897755610975|CCTTGGCACTACCAATATTTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 40961344 indel.2695 TA T . PASS FUNCOTATION=[ZFP69|hg19|chr1|40961345|40961345|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:40961345delA|ENST00000372706.1|+|6|2200|c.1195delA|c.(1195-1197)agtfs|p.S399fs|0.4114713216957606|TAGACACCTTAGTGAACATAT|ZFP69_ENST00000372705.3_FRAME_SHIFT_DEL_p.S399fs/RP11-656D10.3_ENST00000450713.1_RNA|||||||||||||||||||||||||||||||||BC041873|||HGNC:24708|ZFP69_%20_zinc_%20_finger_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZNF642|"zinc_%20_finger_%20_protein_%20_642"|ZKSCAN23A_%2C__%20_FLJ16030_%2C__%20_ZFP69A_%2C__%20_ZSCAN54A|"ZFP69_%20_zinc_%20_finger_%20_protein_%20_A"|1p34.2|2014-11-19|2012-11-27|2012-11-27|AK122618||339559|ENSG00000187815||NM_198494|42_%7C_28|SCAN_%20_domain_%20_containing_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS30686|OTTHUMG00000007303|339559||NM_001320178|Q49AA0|ENSG00000187815|uc009vwb.4|ZFP69_HUMAN||Q5SWM5_%7C_Q6ZWK8|Q49AA0|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 40966167 rs7511983 C T . PASS FUNCOTATION=[RP11-656D10.3|hg19|chr1|40966167|40966167|RNA||SNP|C|C|T|g.chr1:40966167C>T|ENST00000450713.1|-|||c.e2+6807G>A|||0.428927680798005|AGGTCAGGTGCCAACCCTTAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 40974156 rs3795347 T C . PASS FUNCOTATION=[EXO5|hg19|chr1|40974156|40974156|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:40974156T>C|ENST00000296380.4|+||||||0.5561097256857855|CTTGCTCGGATTGTCCCGGTG|EXO5_ENST00000358527.2_FIVE_PRIME_FLANK/EXO5_ENST00000372703.1_FIVE_PRIME_FLANK/RP11-656D10.3_ENST00000450713.1_RNA/EXO5_ENST00000471429.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CH471059|NM_022774.1|NP_073611.1|HGNC:26115|exonuclease_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf176_%2C__%20_DEM1|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_176"_%2C__%20_"defects_%20_in_%20_morphology_%20_1_%20_homolog_%20_(S._%20_cerevisiae)"|FLJ21144||1p34.2|2014-11-19|2012-10-30|2012-10-30|AK024797||64789|ENSG00000164002|23095756|NM_022774|544|Exonucleases|CCDS453|OTTHUMG00000007305|64789||NM_022774|Q9H790|ENSG00000164002|uc001cfp.4|EXO5_HUMAN||D3DPV4_%7C_Q5SWM7_%7C_Q5SWM8_%7C_Q5SWM9_%7C_Q5SWN0_%7C_Q5SWN1_%7C_Q8WTW9|Q9H790|DNA_%20_catabolic_%20_process_%2C__%20_exonucleolytic_%20_(GO:0000738)_%7C_interstrand_%20_cross-link_%20_repair_%20_(GO:0036297)|cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)|4_%20_iron_%2C__%20_4_%20_sulfur_%20_cluster_%20_binding_%20_(GO:0051539)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_single-stranded_%20_DNA_%20_3'-5'_%20_exodeoxyribonuclease_%20_activity_%20_(GO:0008310)_%7C_single-stranded_%20_DNA_%20_5'-3'_%20_exodeoxyribonuclease_%20_activity_%20_(GO:0045145)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 40974799 rs12068587 T C . PASS FUNCOTATION=[EXO5|hg19|chr1|40974799|40974799|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:40974799T>C|ENST00000372703.1|+|1|||||0.6109725685785536|TCCCTGTTCTTATTCCTGGCT|EXO5_ENST00000296380.4_INTRON/EXO5_ENST00000358527.2_INTRON/EXO5_ENST00000471429.1_INTRON/RP11-656D10.3_ENST00000450713.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CH471059|||HGNC:26115|exonuclease_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf176_%2C__%20_DEM1|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_176"_%2C__%20_"defects_%20_in_%20_morphology_%20_1_%20_homolog_%20_(S._%20_cerevisiae)"|FLJ21144||1p34.2|2014-11-19|2012-10-30|2012-10-30|AK024797||64789|ENSG00000164002|23095756|NM_022774|544|Exonucleases|CCDS453|OTTHUMG00000007305|64789||NM_022774|Q9H790|ENSG00000164002|uc001cfp.4|EXO5_HUMAN||D3DPV4_%7C_Q5SWM7_%7C_Q5SWM8_%7C_Q5SWM9_%7C_Q5SWN0_%7C_Q5SWN1_%7C_Q8WTW9|Q9H790|DNA_%20_catabolic_%20_process_%2C__%20_exonucleolytic_%20_(GO:0000738)_%7C_interstrand_%20_cross-link_%20_repair_%20_(GO:0036297)|cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)|4_%20_iron_%2C__%20_4_%20_sulfur_%20_cluster_%20_binding_%20_(GO:0051539)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_single-stranded_%20_DNA_%20_3'-5'_%20_exodeoxyribonuclease_%20_activity_%20_(GO:0008310)_%7C_single-stranded_%20_DNA_%20_5'-3'_%20_exodeoxyribonuclease_%20_activity_%20_(GO:0045145)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 40980601 indel.2701 CA C . PASS FUNCOTATION=[EXO5|hg19|chr1|40980602|40980602|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:40980602delA|ENST00000372703.1|+|2|1459|c.386delA|c.(385-387)catfs|p.H129fs|0.4713216957605985|CTAGAACTTCATGATCTTGTG|EXO5_ENST00000296380.4_FRAME_SHIFT_DEL_p.H129fs/EXO5_ENST00000358527.2_FRAME_SHIFT_DEL_p.H129fs/RP11-656D10.5_ENST00000453437.1_RNA|||||||||||||||||||||||||||||||||CH471059|||HGNC:26115|exonuclease_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf176_%2C__%20_DEM1|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_176"_%2C__%20_"defects_%20_in_%20_morphology_%20_1_%20_homolog_%20_(S._%20_cerevisiae)"|FLJ21144||1p34.2|2014-11-19|2012-10-30|2012-10-30|AK024797||64789|ENSG00000164002|23095756|NM_022774|544|Exonucleases|CCDS453|OTTHUMG00000007305|64789||NM_022774|Q9H790|ENSG00000164002|uc001cfp.4|EXO5_HUMAN||D3DPV4_%7C_Q5SWM7_%7C_Q5SWM8_%7C_Q5SWM9_%7C_Q5SWN0_%7C_Q5SWN1_%7C_Q8WTW9|Q9H790|DNA_%20_catabolic_%20_process_%2C__%20_exonucleolytic_%20_(GO:0000738)_%7C_interstrand_%20_cross-link_%20_repair_%20_(GO:0036297)|cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)|4_%20_iron_%2C__%20_4_%20_sulfur_%20_cluster_%20_binding_%20_(GO:0051539)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_single-stranded_%20_DNA_%20_3'-5'_%20_exodeoxyribonuclease_%20_activity_%20_(GO:0008310)_%7C_single-stranded_%20_DNA_%20_5'-3'_%20_exodeoxyribonuclease_%20_activity_%20_(GO:0045145)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 41338665 rs1359893 A G . PASS FUNCOTATION=[RP5-1066H13.4|hg19|chr1|41338665|41338665|RNA||SNP|A|A|G|g.chr1:41338665A>G|ENST00000414199.1|+|||c.e3-3474A>G|||0.38154613466334164|TTATTCCCACATCATAAATGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 41461696 indel.2730 GC G . PASS FUNCOTATION=[CTPS1|hg19|chr1|41461697|41461697|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:41461697delC|ENST00000372621.4|+|8|1336|c.829delC|c.(829-831)cagfs|p.Q277fs|0.4314214463840399|TATTGAGAGGCAGCCAAGAAA|CTPS1_ENST00000372616.1_FRAME_SHIFT_DEL_p.Q277fs/CTPS1_ENST00000541520.1_FRAME_SHIFT_DEL_p.Q46fs/CTPS1_ENST00000543104.1_FRAME_SHIFT_DEL_p.Q284fs|||||||||||||||||||||||||||||||||X52142|NM_001905.2|NP_001896.2|HGNC:2519|CTP_%20_synthase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CTPS|"CTP_%20_synthase"|GATD5||1p34.2|2017-03-16|2012-05-02|2012-05-02|BC009408|6.3.4.2|1503|ENSG00000171793|1783378|NM_001905|1408|Glutamine_%20_amidotransferase_%20_like_%20_class_%20_1_%20_domain_%20_containing|CCDS459|OTTHUMG00000005712|1503|123860|NM_001301237|P17812|ENSG00000171793|uc001cgk.5|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 42094498 rs2038976 A G . PASS FUNCOTATION=[HIVEP3|hg19|chr1|42094498|42094498|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:42094498A>G|ENST00000372583.1|-|3|||||0.5112219451371571|GTCCACTCCTACGGCAGCCAC|HIVEP3_ENST00000247584.5_FIVE_PRIME_UTR/HIVEP3_ENST00000372584.1_FIVE_PRIME_UTR/HIVEP3_ENST00000429157.2_FIVE_PRIME_UTR|||||||||||||||||||||||||173|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_lung(3)_%7C_pancreas(22)_%7C_thymus(14)_%7C_upper_aerodigestive_tract(3)|||||||BC152563|NM_024503.4|NP_078779.2|HGNC:13561|human_%20_immunodeficiency_%20_virus_%20_type_%20_I_%20_enhancer_%20_binding_%20_protein_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"human_%20_immunodeficiency_%20_virus_%20_type_%20_I_%20_enhancer-binding_%20_protein_%20_3"|KRC_%2C__%20_KBP1_%2C__%20_KBP-1_%2C__%20_SHN3_%2C__%20_FLJ16752_%2C__%20_KIAA1555_%2C__%20_ZAS3_%2C__%20_Schnurri-3_%2C__%20_ZNF40C|"kappabinding_%20_protein-1"|1p34.2|2016-10-05||2001-11-28|AF278765||59269|ENSG00000127124|11161801|NM_024503|28|Zinc_%20_fingers_%20_C2H2-type|CCDS463_%2C__%20_CCDS44124|OTTHUMG00000006361|59269|606649|NM_001127714|Q5T1R4|ENSG00000127124|uc001cgz.5|ZEP3_HUMAN||A7YY91_%7C_Q5T1R5_%7C_Q9BZS0_%7C_Q9HCL7|Q5T1R4|positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_skeletal_%20_muscle_%20_cell_%20_differentiation_%20_(GO:0035914)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 43004894 indel.2772 CA C . PASS FUNCOTATION=[CCDC30|hg19|chr1|43004895|43004895|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:43004895delA|ENST00000340612.4|+|2|168|c.169delA|c.(169-171)aatfs|p.N57fs|0.30673316708229426|TGAAGTTCACAATCTTCCAGG|CCDC30_ENST00000507855.1_INTRON/CCDC30_ENST00000428554.2_FRAME_SHIFT_DEL_p.N57fs/CCDC30_ENST00000342022.4_FRAME_SHIFT_DEL_p.N57fs/CCDC30_ENST00000390640.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY639646|||HGNC:26103|coiled-coil_%20_domain_%20_containing_%20_30|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ20972_%2C__%20_PFD6L_%2C__%20_LOC728621|"prefoldin_%20_6-like"|1p34.2|2015-08-24|||AY639646||728621|ENSG00000186409|16710767|NM_025030|||CCDS30690|OTTHUMG00000007334|728621||NM_001080850|Q5VVM6|ENSG00000186409|uc057fjg.1|CCD30_HUMAN||Q14F06_%7C_Q5VVM5|Q5VVM6||extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 43021827 indel.2775 TC T . PASS FUNCOTATION=[CCDC30|hg19|chr1|43021828|43021828|SPLICE_SITE|FRAME_SHIFT_DEL|DEL|C|C|-|g.chr1:43021828delC|ENST00000340612.4|+|4|426|c.427delC|c.(427-429)cccfs|p.K144fs|0.38902743142144636|TGCACCAAGTCCCAAATTAGG|CCDC30_ENST00000507855.1_INTRON/CCDC30_ENST00000428554.2_SPLICE_SITE_p.K144fs/CCDC30_ENST00000342022.4_SPLICE_SITE_p.K144fs/CCDC30_ENST00000390640.4_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AY639646|||HGNC:26103|coiled-coil_%20_domain_%20_containing_%20_30|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ20972_%2C__%20_PFD6L_%2C__%20_LOC728621|"prefoldin_%20_6-like"|1p34.2|2015-08-24|||AY639646||728621|ENSG00000186409|16710767|NM_025030|||CCDS30690|OTTHUMG00000007334|728621||NM_001080850|Q5VVM6|ENSG00000186409|uc057fjg.1|CCD30_HUMAN||Q14F06_%7C_Q5VVM5|Q5VVM6||extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 43232984 exm51112 T C . PASS FUNCOTATION=[C1orf50|hg19|chr1|43232984|43232984|START_CODON_SNP||SNP|T|T|C|g.chr1:43232984T>C|ENST00000372525.5|+|1|45|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6957605985037406|GGCGCTGTCATGGAGGACGCC|C1orf50_ENST00000536543.1_THREE_PRIME_UTR/LEPRE1_ENST00000236040.4_FIVE_PRIME_FLANK/LEPRE1_ENST00000296388.5_FIVE_PRIME_FLANK/LEPRE1_ENST00000397054.3_FIVE_PRIME_FLANK/C1orf50_ENST00000468913.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC001711|NM_024097.3|NP_077002.2|HGNC:28795|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_50|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC955||1p34.2|2016-10-24|||BC001711||79078|ENSG00000164008|12477932|NM_024097|||CCDS473|OTTHUMG00000191873|79078||NM_024097|Q9BV19|ENSG00000164008|uc001cia.5|CA050_HUMAN|||Q9BV19|||||||true|false|0.9996_%2C_._%2C_0.0003994|false|false|0||false|false|false|P3H1:64175_%7C_C1orf50:79078|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|200116115|43232984|false|false|0|false|0|false|0.999622_%2C_0.000171715_%2C_0.000206058|false|false|false|SNV|true|0x050000020a05040436000100|1|false|137|rs200116115|] +1 43610910 rs626842 T G . PASS FUNCOTATION=[FAM183A|hg19|chr1|43610910|43610910|FIVE_PRIME_UTR||SNP|T|T|G|g.chr1:43610910T>G|ENST00000410048.1|+|1|||||0.47880299251870323|TGCAGGGCCATTGACAGAGAA|FAM183A_ENST00000335282.4_FIVE_PRIME_FLANK/FAM183A_ENST00000409337.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||AL139138|||HGNC:34347|family_%20_with_%20_sequence_%20_similarity_%20_183_%20_member_%20_A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"family_%20_with_%20_sequence_%20_similarity_%20_183_%2C__%20_member_%20_A"|LOC440585_%2C__%20_hCG23177||1p34.2|2016-09-30||2015-11-18|AI192630_%2C__%20_AI375550_%2C__%20_AL139138||440585|ENSG00000186973|11181995|NM_001101376|||CCDS44126|OTTHUMG00000007286|440585||NM_001101376|A6NL82|ENSG00000186973|uc009vwo.4|F183A_HUMAN||B7ZBL8|A6NL82|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 43783609 indel.2866 CGGAA C . PASS FUNCOTATION=[TIE1|hg19|chr1|43783610|43783613|FRAME_SHIFT_DEL||DEL|GGAA|GGAA|-|g.chr1:43783610_43783613delGGAA|ENST00000372476.3|+|17|2867_2870|c.2789_2792delGGAA|c.(2788-2793)cggaaafs|p.R930fs|0.5668316831683168|GATTTTCTGCGGAAAAGCCGGGTC|TIE1_ENST00000433781.2_FRAME_SHIFT_DEL_p.R575fs/TIE1_ENST00000473014.1_INTRON|||||||||||||||||||||||||1147|biliary_tract(2)_%7C_breast(201)_%7C_central_nervous_system(60)_%7C_haematopoietic_and_lymphoid_tissue(54)_%7C_kidney(46)_%7C_large_intestine(71)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(49)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||X60957|NM_005424.4|NP_005415.1|HGNC:11809|tyrosine_%20_kinase_%20_with_%20_immunoglobulin_%20_like_%20_and_%20_EGF_%20_like_%20_domains_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TIE|"tyrosine_%20_kinase_%20_with_%20_immunoglobulin_%20_and_%20_epidermal_%20_growth_%20_factor_%20_homology_%20_domains_%20_1"_%2C__%20_"tyrosine_%20_kinase_%20_with_%20_immunoglobulin-like_%20_and_%20_EGF-like_%20_domains_%20_1"|JTK14||1p34.2|2016-10-05|2004-12-14|2016-01-21|BC038239|2.7.10.1|7075|ENSG00000066056|1312667|NM_005424|555_%7C_594_%7C_321|Fibronectin_%20_type_%20_III_%20_domain_%20_containing_%7C_Immunoglobulin_%20_like_%20_domain_%20_containing_%7C_Receptor_%20_Tyrosine_%20_Kinases|CCDS482|OTTHUMG00000007282|7075|600222|NM_001253357|P35590|ENSG00000066056|uc001ciu.4|TIE1_HUMAN||B5A949_%7C_B5A950|P35590|angiogenesis_%20_(GO:0001525)_%7C_in_%20_utero_%20_embryonic_%20_development_%20_(GO:0001701)_%7C_mesoderm_%20_development_%20_(GO:0007498)_%7C_negative_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0016525)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_migration_%20_(GO:0030336)_%7C_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0018108)_%7C_plasma_%20_membrane_%20_fusion_%20_(GO:0045026)_%7C_response_%20_to_%20_retinoic_%20_acid_%20_(GO:0032526)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_vasculogenesis_%20_(GO:0001570)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|ATP_%20_binding_%20_(GO:0005524)_%7C_transmembrane_%20_receptor_%20_protein_%20_tyrosine_%20_kinase_%20_activity_%20_(GO:0004714)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 43854091 exm52079 C G . PASS FUNCOTATION=[MED8|hg19|chr1|43854091|43854091|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:43854091C>G|ENST00000372455.4|-|2|||||0.4837905236907731|CAAGCTGCTTCTCCTCTCTCT|MED8_ENST00000372457.4_MISSENSE_p.E5D/MED8_ENST00000290663.6_MISSENSE_p.E5D/SZT2_ENST00000310739.4_FIVE_PRIME_FLANK/SZT2_ENST00000372450.4_FIVE_PRIME_FLANK/SZT2_ENST00000562955.1_FIVE_PRIME_FLANK/RP1-92O14.6_ENST00000436713.1_RNA|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BG722466|||HGNC:19971|mediator_%20_complex_%20_subunit_%20_8|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"mediator_%20_of_%20_RNA_%20_polymerase_%20_II_%20_transcription_%2C__%20_subunit_%20_8_%20_homolog_%20_(S._%20_cerevisiae)"|MGC17544_%2C__%20_MGC19641_%2C__%20_ARC32||1p34.2|2016-10-05||2007-07-30|AF521562_%2C__%20_BC010543||112950|ENSG00000159479|12149480_%2C__%20_9671713|NM_052877|1061|Mediator_%20_complex|CCDS486_%2C__%20_CCDS487_%2C__%20_CCDS60108|OTTHUMG00000007421|112950|607956|NM_001001653|Q96G25|ENSG00000159479|uc001cjg.6|MED8_HUMAN||A9IZ91_%7C_A9IZ92_%7C_Q5JUY8_%7C_Q96FQ4|Q96G25|gene_%20_expression_%20_(GO:0010467)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)|mediator_%20_complex_%20_(GO:0016592)_%7C_nucleoplasm_%20_(GO:0005654)|RNA_%20_polymerase_%20_II_%20_transcription_%20_cofactor_%20_activity_%20_(GO:0001104)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 44445667 rs3762423 T C . PASS FUNCOTATION=[B4GALT2|hg19|chr1|44445667|44445667|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:44445667T>C|ENST00000356836.6|+|1|||||0.6384039900249376|GTGTGAGCTGTCTGAGAGTCT|B4GALT2_ENST00000372324.1_INTRON/B4GALT2_ENST00000434555.2_INTRON/B4GALT2_ENST00000309519.7_FIVE_PRIME_UTR/B4GALT2_ENST00000481924.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||Y12510|NM_030587.2|NP_085076.2|HGNC:925|beta-1_%2C_4-galactosyltransferase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"UDP-Gal:betaGlcNAc_%20_beta_%20_1_%2C_4-_%20_galactosyltransferase_%2C__%20_polypeptide_%20_2"|beta4Gal-T2||1p34.1|2016-10-05||2016-03-15|AF038660|2.4.1.38|8704|ENSG00000117411|9405390_%2C__%20_9597550|NM_003780|425|Beta_%20_4-glycosyltransferases|CCDS506_%2C__%20_CCDS55596|OTTHUMG00000008296|8704|604013|NM_001005417|O60909|ENSG00000117411|uc001clg.4|B4GT2_HUMAN|N-Acetyl-D-glucosamine(DB00141)|B3KTP0_%7C_B4DE14_%7C_D3DPY6_%7C_D3DPY7_%7C_O60511_%7C_Q4V9L9_%7C_Q5T4X5_%7C_Q5T4Y5_%7C_Q9BUP6_%7C_Q9NSY7|O60909|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_keratan_%20_sulfate_%20_biosynthetic_%20_process_%20_(GO:0018146)_%7C_keratan_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0042339)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)_%7C_protein_%20_N-linked_%20_glycosylation_%20_via_%20_asparagine_%20_(GO:0018279)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|Golgi_%20_membrane_%20_(GO:0000139)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|beta-N-acetylglucosaminylglycopeptide_%20_beta-1_%2C_4-galactosyltransferase_%20_activity_%20_(GO:0003831)_%7C_galactosyltransferase_%20_activity_%20_(GO:0008378)_%7C_lactose_%20_synthase_%20_activity_%20_(GO:0004461)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_N-acetyllactosamine_%20_synthase_%20_activity_%20_(GO:0003945)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 45205606 exm53931 T A . PASS FUNCOTATION=[KIF2C|hg19|chr1|45205606|45205606|START_CODON_SNP||SNP|T|T|A|g.chr1:45205606T>A|ENST00000372224.4|+|1|115|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.5835411471321695|ACTCTCCGAATGGCCATGGAC|KIF2C_ENST00000372218.4_START_CODON_SNP_p.M1K/KIF2C_ENST00000493027.1_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U63743|NM_006845.3|NP_006836.2|HGNC:6393|kinesin_%20_family_%20_member_%20_2C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KNSL6|"kinesin-like_%20_6_%20_(mitotic_%20_centromere-associated_%20_kinesin)"|MCAK_%2C__%20_CT139||1p34.1|2014-11-19|2003-01-17|2003-01-13|U63743||11004|ENSG00000142945|9434124|NM_006845|622|Kinesins|CCDS512_%2C__%20_CCDS72774|OTTHUMG00000008416|11004|604538|NM_001297655|Q99661|ENSG00000142945|uc001cmg.5|KIF2C_HUMAN||B3ITR9_%7C_Q5JR88_%7C_Q6ICU1_%7C_Q96C18_%7C_Q96HB8_%7C_Q9BWV8|Q99661|antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_II_%20_(GO:0019886)_%7C_ATP_%20_catabolic_%20_process_%20_(GO:0006200)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_chromosome_%20_segregation_%20_(GO:0007059)_%7C_establishment_%20_or_%20_maintenance_%20_of_%20_microtubule_%20_cytoskeleton_%20_polarity_%20_(GO:0030951)_%7C_metabolic_%20_process_%20_(GO:0008152)_%7C_microtubule_%20_depolymerization_%20_(GO:0007019)_%7C_microtubule-based_%20_movement_%20_(GO:0007018)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_regulation_%20_of_%20_chromosome_%20_segregation_%20_(GO:0051983)|chromosome_%2C__%20_centromeric_%20_region_%20_(GO:0000775)_%7C_cytosol_%20_(GO:0005829)_%7C_kinesin_%20_complex_%20_(GO:0005871)_%7C_kinetochore_%20_(GO:0000776)_%7C_membrane_%20_(GO:0016020)_%7C_microtubule_%20_cytoskeleton_%20_(GO:0015630)_%7C_microtubule_%20_plus-end_%20_(GO:0035371)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_ATPase_%20_activity_%20_(GO:0016887)_%7C_centromeric_%20_DNA_%20_binding_%20_(GO:0019237)_%7C_microtubule_%20_motor_%20_activity_%20_(GO:0003777)_%7C_microtubule_%20_plus-end_%20_binding_%20_(GO:0051010)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 45241113 rs11211031 T C . PASS FUNCOTATION=[RPS8|hg19|chr1|45241113|45241113|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:45241113T>C|ENST00000396651.3|+|1|||||0.5985037406483791|GAGACCCTCCTAGGCTCGTGG|RPS8_ENST00000372209.3_FIVE_PRIME_FLANK/RP11-269F19.2_ENST00000428791.1_RNA/SNORD46_ENST00000364043.1_FIVE_PRIME_FLANK/SNORD38A_ENST00000365161.1_FIVE_PRIME_FLANK/SNORD38B_ENST00000384690.1_FIVE_PRIME_FLANK/RPS8_ENST00000485390.1_FIVE_PRIME_FLANK/SNORD55_ENST00000581525.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X67247|||HGNC:10441|ribosomal_%20_protein_%20_S8|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||S8||1p34.1|2016-10-05|||BC070875||6202|ENSG00000142937|8432552|NM_001012|728|S_%20_ribosomal_%20_proteins|CCDS513|OTTHUMG00000008494|6202|600357|NM_001012|P62241|ENSG00000142937|uc001cmi.4|RS8_HUMAN||P09058_%7C_Q6IRL7|P62241|cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_maturation_%20_of_%20_SSU-rRNA_%20_from_%20_tricistronic_%20_rRNA_%20_transcript_%20_(SSU-rRNA_%2C__%20_5.8S_%20_rRNA_%2C__%20_LSU-rRNA)_%20_(GO:0000462)_%7C_mRNA_%20_metabolic_%20_process_%20_(GO:0016071)_%7C_nuclear-transcribed_%20_mRNA_%20_catabolic_%20_process_%2C__%20_nonsense-mediated_%20_decay_%20_(GO:0000184)_%7C_RNA_%20_metabolic_%20_process_%20_(GO:0016070)_%7C_SRP-dependent_%20_cotranslational_%20_protein_%20_targeting_%20_to_%20_membrane_%20_(GO:0006614)_%7C_translation_%20_(GO:0006412)_%7C_translational_%20_elongation_%20_(GO:0006414)_%7C_translational_%20_initiation_%20_(GO:0006413)_%7C_translational_%20_termination_%20_(GO:0006415)_%7C_viral_%20_life_%20_cycle_%20_(GO:0019058)_%7C_viral_%20_process_%20_(GO:0016032)_%7C_viral_%20_transcription_%20_(GO:0019083)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_cytosolic_%20_small_%20_ribosomal_%20_subunit_%20_(GO:0022627)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)_%7C_ribonucleoprotein_%20_complex_%20_(GO:0030529)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_structural_%20_constituent_%20_of_%20_ribosome_%20_(GO:0003735)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 45477940 variant.3034 G A . PASS FUNCOTATION=[UROD|hg19|chr1|45477940|45477940|START_CODON_SNP||SNP|G|G|A|g.chr1:45477940G>A|ENST00000246337.4|+|1|122|c.3G>A|c.(1-3)atG>atA|p.M1I|0.543640897755611|AGCTGACCATGGAAGCGAATG|HECTD3_ENST00000372168.3_FIVE_PRIME_FLANK/HECTD3_ENST00000372172.4_FIVE_PRIME_FLANK/UROD_ENST00000494399.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)||||Porphyria_%20_Cutanea_%20_Tarda_%2C__%20_Type_%20_II|PCT-II|Familial_%20_Cancer_%20_Database|X89267|NM_000374.4|NP_000365.3|HGNC:12591|uroporphyrinogen_%20_decarboxylase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p34.1|2017-03-24|||BC001778|4.1.1.37|7389|ENSG00000126088|3015909_%2C__%20_3460962|NM_000374|||CCDS518|OTTHUMG00000008949|7389|613521|NM_000374|P06132|ENSG00000126088|uc001cna.3|DCUP_HUMAN||A8K762_%7C_Q16863_%7C_Q16883_%7C_Q53YB8_%7C_Q53ZP6_%7C_Q6IB28_%7C_Q9BUZ0|P06132|heme_%20_biosynthetic_%20_process_%20_(GO:0006783)_%7C_porphyrin-containing_%20_compound_%20_metabolic_%20_process_%20_(GO:0006778)_%7C_protoporphyrinogen_%20_IX_%20_biosynthetic_%20_process_%20_(GO:0006782)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)|uroporphyrinogen_%20_decarboxylase_%20_activity_%20_(GO:0004853)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 45965246 indel.3113 ATCCAGCTG A . PASS FUNCOTATION=[CCDC163P|hg19|chr1|45965247|45965254|FRAME_SHIFT_DEL||DEL|TCCAGCTG|TCCAGCTG|-|g.chr1:45965247_45965254delTCCAGCTG|ENST00000432082.1|-|1|401_408|c.28_35delCAGCTGGA|c.(28-36)cagctggatfs|p.Q10fs|0.5465686274509803|GAGAAGCACATCCAGCTGCTCAAACCAG|CCDC163P_ENST00000488405.2_FRAME_SHIFT_DEL_p.Q10fs/CCDC163P_ENST00000490551.3_FRAME_SHIFT_DEL_p.Q10fs/MMACHC_ENST00000401061.4_FIVE_PRIME_FLANK/CCDC163P_ENST00000502793.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||AL451136||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 45974886 exm55303 G C . PASS FUNCOTATION=[MMACHC|hg19|chr1|45974886|45974886|NONSTOP||SNP|G|G|C|g.chr1:45974886G>C|ENST00000401061.4|+|4|1128|c.848G>C|c.(847-849)tGa>tCa|p.*283S|0.5112219451371571|CCTGGCCCTTGATTTTCTCCC|MMACHC_ENST00000477188.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC006122|NM_015506.2|NP_056321.2|HGNC:24525|methylmalonic_%20_aciduria_%20_(cobalamin_%20_deficiency)_%20_cblC_%20_type_%2C__%20_with_%20_homocystinuria|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||DKFZP564I122_%2C__%20_cblC||1p34.1|2016-07-08|||||25974|ENSG00000132763|16311595_%2C__%20_19700356_%2C__%20_19801555|NM_015506|||CCDS41324_%2C__%20_CCDS81315|OTTHUMG00000007742|25974|609831|NM_015506|Q9Y4U1|ENSG00000132763|uc009vxv.4|MMAC_HUMAN|Cyanocobalamin(DB00115)_%7C_Hydroxocobalamin(DB00200)|Q5T157_%7C_Q9BRQ7|Q9Y4U1|cobalamin_%20_biosynthetic_%20_process_%20_(GO:0009236)_%7C_cobalamin_%20_metabolic_%20_process_%20_(GO:0009235)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)_%7C_mitochondrion_%20_(GO:0005739)|cobalamin_%20_binding_%20_(GO:0031419)||||true|false||false|false|||false|false|false|MMACHC:25974|false|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201025783|45974886|false|false|0|false|0|false|0.999244_%2C_0.000240401_%2C_0.000515145|false|false|false|SNV|true|0x050000000205040416000100|1|false|137|rs201025783|] +1 46032295 var_1_46032295 GC G . PASS FUNCOTATION=[AKR1A1|hg19|chr1|46032296|46032296|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:46032296delC|ENST00000372070.3|+|4|886|c.140delC|c.(139-141)gctfs|p.A47fs|0.5261845386533666|ATTGATTGTGCTGCTATCTAC|AKR1A1_ENST00000351829.4_FRAME_SHIFT_DEL_p.A47fs/AKR1A1_ENST00000471651.1_FRAME_SHIFT_DEL_p.A47fs/AKR1A1_ENST00000473038.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||J04794|NM_006066.3|NP_006057.1|HGNC:380|aldo-keto_%20_reductase_%20_family_%20_1_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"aldo-keto_%20_reductase_%20_family_%20_1_%2C__%20_member_%20_A1_%20_(aldehyde_%20_reductase)"|ALR_%2C__%20_DD3|"dihydrodiol_%20_dehydrogenase_%20_3"_%2C__%20_"aldehyde_%20_reductase"|1p34.1|2016-10-05||2016-06-03|J04794|1.1.1.2|10327|ENSG00000117448|2498333_%2C__%20_10393438|NM_006066|399|Aldo-keto_%20_reductases|CCDS523|OTTHUMG00000007740|10327|103830|NM_001202413|P14550|ENSG00000117448|uc001cod.4|AK1A1_HUMAN|Doxorubicin(DB00997)|A8KAL8_%7C_D3DQ04_%7C_Q6IAZ4|P14550|aldehyde_%20_catabolic_%20_process_%20_(GO:0046185)_%7C_cellular_%20_aldehyde_%20_metabolic_%20_process_%20_(GO:0006081)_%7C_D-glucuronate_%20_catabolic_%20_process_%20_(GO:0042840)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_L-ascorbic_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0019853)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|alditol:NADP+_%20_1-oxidoreductase_%20_activity_%20_(GO:0004032)_%7C_electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_L-glucuronate_%20_reductase_%20_activity_%20_(GO:0047939)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 46086465 indel.3153 CTT C . PASS FUNCOTATION=[CCDC17|hg19|chr1|46086466|46086467|FRAME_SHIFT_DEL||DEL|TT|TT|-|g.chr1:46086466_46086467delTT|ENST00000528266.1|-|12|1788_1789|c.1638_1639delAA|c.(1636-1638)gcafs|p.D548fs|0.5597014925373134|GCTGCATCTCTTGCATTCACCA|CCDC17_ENST00000421127.2_FRAME_SHIFT_DEL_p.D539fs/CCDC17_ENST00000445048.2_INTRON/CCDC17_ENST00000343901.2_FRAME_SHIFT_DEL_p.D516fs|||||||||||||||||||||||||22|central_nervous_system(22)|||||||BC128178|||HGNC:26574|coiled-coil_%20_domain_%20_containing_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ33084||1p34.1|2016-04-25|||||149483|ENSG00000159588||NM_152500|||CCDS44131_%2C__%20_CCDS53314|OTTHUMG00000007822|149483||NM_001114938|Q96LX7|ENSG00000159588|uc010olt.3|CCD17_HUMAN||A1A4Y7_%7C_B4DNX7_%7C_B4E1Q5_%7C_C9J8L2_%7C_Q0P683_%7C_Q5T629|Q96LX7|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 46087133 indel.3158 TC T . PASS FUNCOTATION=[CCDC17|hg19|chr1|46087134|46087134|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:46087134delC|ENST00000528266.1|-|10|1356|c.1207delG|c.(1207-1209)gatfs|p.D403fs|0.600997506234414|CGCAGGAAATCATAGAAAATG|CCDC17_ENST00000421127.2_FRAME_SHIFT_DEL_p.D394fs/CCDC17_ENST00000445048.2_INTRON/CCDC17_ENST00000343901.2_FRAME_SHIFT_DEL_p.D371fs/CCDC17_ENST00000464739.1_INTRON|||||||||||||||||||||||||22|central_nervous_system(22)|||||||BC128178|||HGNC:26574|coiled-coil_%20_domain_%20_containing_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ33084||1p34.1|2016-04-25|||||149483|ENSG00000159588||NM_152500|||CCDS44131_%2C__%20_CCDS53314|OTTHUMG00000007822|149483||NM_001114938|Q96LX7|ENSG00000159588|uc010olt.3|CCD17_HUMAN||A1A4Y7_%7C_B4DNX7_%7C_B4E1Q5_%7C_C9J8L2_%7C_Q0P683_%7C_Q5T629|Q96LX7|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 46120883 indel.3165 CA C . PASS FUNCOTATION=[GPBP1L1|hg19|chr1|46120884|46120884|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:46120884delA|ENST00000290795.3|-|4|1391|c.168delT|c.(166-168)aatfs|p.N56fs|0.4014962593516209|GTAGGGGACCATTGTTAAAAA|GPBP1L1_ENST00000355105.3_FRAME_SHIFT_DEL_p.N56fs|||||||||||||||||||||||GPBP1L1{ENST00000290795}:r.1_125+836_MAST2{ENST00000361297}:r.784_5738(2)||244|biliary_tract(2)_%7C_breast(165)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|||HGNC:28843|GC-rich_%20_promoter_%20_binding_%20_protein_%20_1_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"GC-rich_%20_promoter_%20_binding_%20_protein_%20_1-like_%20_1"|SP192||1p34.1|2016-01-21||2016-01-21|||60313|ENSG00000159592|12477932|NM_021639|||CCDS528|OTTHUMG00000040990|60313||NM_021639|Q9HC44|ENSG00000159592|uc001coq.4|GPBL1_HUMAN||D3DQ10_%7C_Q9H751|Q9HC44|positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 46125880 rs3811436 T C . PASS FUNCOTATION=[GPBP1L1|hg19|chr1|46125880|46125880|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:46125880T>C|ENST00000290795.3|-|2|||||0.428927680798005|TCTGTGGTCCTGTTTCTGAAC|GPBP1L1_ENST00000355105.3_FIVE_PRIME_UTR|||||||||||||||||||||||GPBP1L1{ENST00000290795}:r.1_125+836_MAST2{ENST00000361297}:r.784_5738(2)||244|biliary_tract(2)_%7C_breast(165)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|||HGNC:28843|GC-rich_%20_promoter_%20_binding_%20_protein_%20_1_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"GC-rich_%20_promoter_%20_binding_%20_protein_%20_1-like_%20_1"|SP192||1p34.1|2016-01-21||2016-01-21|||60313|ENSG00000159592|12477932|NM_021639|||CCDS528|OTTHUMG00000040990|60313||NM_021639|Q9HC44|ENSG00000159592|uc001coq.4|GPBL1_HUMAN||D3DQ10_%7C_Q9H751|Q9HC44|positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 46153203 rs3013595 G A . PASS FUNCOTATION=[TMEM69|hg19|chr1|46153203|46153203|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:46153203G>A|ENST00000372025.4|+|1|||||0.5012468827930174|ACACGGAAGGGCACTAAAATT|GPBP1L1_ENST00000290795.3_FIVE_PRIME_FLANK/GPBP1L1_ENST00000355105.3_FIVE_PRIME_FLANK/TMEM69_ENST00000496366.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_016486.3|NP_057570.2|HGNC:28035|transmembrane_%20_protein_%20_69|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf154|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_154"|FLJ21029||1p34.1|2014-11-19|2005-08-17|2005-08-17|BC040289_%2C__%20_BC013608||51249|ENSG00000159596||NM_016486|||CCDS41325|OTTHUMG00000040993|51249||NM_016486|Q5SWH9|ENSG00000159596|uc001cor.2|TMM69_HUMAN||Q3SWW5_%7C_Q7Z2G0_%7C_Q9P0P9|Q5SWH9||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 46158964 indel.3168 CAT C . PASS FUNCOTATION=[TMEM69|hg19|chr1|46158965|46158966|FRAME_SHIFT_DEL||DEL|AT|AT|-|g.chr1:46158965_46158966delAT|ENST00000372025.4|+|3|1288_1289|c.132_133delAT|c.(130-135)ccatgtfs|p.C45fs|0.4129353233830846|ACTTTTCCCCATGTCCAAGGCC|TMEM69_ENST00000496366.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_016486.3|NP_057570.2|HGNC:28035|transmembrane_%20_protein_%20_69|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf154|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_154"|FLJ21029||1p34.1|2014-11-19|2005-08-17|2005-08-17|BC040289_%2C__%20_BC013608||51249|ENSG00000159596||NM_016486|||CCDS41325|OTTHUMG00000040993|51249||NM_016486|Q5SWH9|ENSG00000159596|uc001cor.2|TMM69_HUMAN||Q3SWW5_%7C_Q7Z2G0_%7C_Q9P0P9|Q5SWH9||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 46159031 indel.3170 AT A . PASS FUNCOTATION=[TMEM69|hg19|chr1|46159032|46159032|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:46159032delT|ENST00000372025.4|+|3|1355|c.199delT|c.(199-201)tccfs|p.S67fs|0.42144638403990026|CTATCATACATCCCCCTGCAG|TMEM69_ENST00000496366.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_016486.3|NP_057570.2|HGNC:28035|transmembrane_%20_protein_%20_69|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf154|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_154"|FLJ21029||1p34.1|2014-11-19|2005-08-17|2005-08-17|BC040289_%2C__%20_BC013608||51249|ENSG00000159596||NM_016486|||CCDS41325|OTTHUMG00000040993|51249||NM_016486|Q5SWH9|ENSG00000159596|uc001cor.2|TMM69_HUMAN||Q3SWW5_%7C_Q7Z2G0_%7C_Q9P0P9|Q5SWH9||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 46543210 indel.3212 CT C . PASS FUNCOTATION=[PIK3R3|hg19|chr1|46543211|46543211|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:46543211delT|ENST00000262741.5|-|3|981|c.290delA|c.(289-291)cagfs|p.Q97fs|0.3516209476309227|ATAATCTCCCTGCATTTTTGT|PIK3R3_ENST00000420542.1_FRAME_SHIFT_DEL_p.Q97fs/PIK3R3_ENST00000372006.1_FRAME_SHIFT_DEL_p.Q97fs/PIK3R3_ENST00000423209.1_FRAME_SHIFT_DEL_p.Q97fs/PIK3R3_ENST00000354242.4_FRAME_SHIFT_DEL_p.Q97fs/PIK3R3_ENST00000340332.6_FRAME_SHIFT_DEL_p.Q61fs/PIK3R3_ENST00000540385.1_FRAME_SHIFT_DEL_p.Q143fs|||||||||||||||||||||||||1123|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(172)_%7C_lung(323)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_stomach(14)_%7C_upper_aerodigestive_tract(121)|||||||Y13809|NM_003629.3|NP_003620.3|HGNC:8981|phosphoinositide-3-kinase_%20_regulatory_%20_subunit_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_regulatory_%20_subunit_%20_3_%20_(gamma)"|p55|"phosphoinositide-3-kinase_%20_regulatory_%20_subunit_%20_gamma"|1p34.1|2015-11-17||2015-11-17|BC021622||8503|ENSG00000117461|9524259|NM_003629|741|SH2_%20_domain_%20_containing|CCDS529_%2C__%20_CCDS76154_%2C__%20_CCDS76155|OTTHUMG00000008096|8503|606076|NM_001114172|Q92569|ENSG00000117461|uc001cpc.5|P55G_HUMAN|Isoprenaline(DB01064)|B2R9C1_%7C_D3DQ12_%7C_O60482_%7C_Q5T4P1_%7C_Q5T4P2|Q92569|insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol-3-phosphate_%20_biosynthetic_%20_process_%20_(GO:0036092)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_phosphatidylinositol_%20_3-kinase_%20_regulator_%20_activity_%20_(GO:0035014)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 46598273 rs1707303 A C . PASS FUNCOTATION=[PIK3R3|hg19|chr1|46598273|46598273|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:46598273A>C|ENST00000262741.5|-|1|||||0.6708229426433915|AACCAACCCGACCGCACCAAC|PIK3R3_ENST00000420542.1_INTRON/PIK3R3_ENST00000372006.1_INTRON/PIK3R3_ENST00000423209.1_FIVE_PRIME_UTR/PIK3R3_ENST00000354242.4_INTRON/PIK3R3_ENST00000340332.6_INTRON/PIK3R3_ENST00000540385.1_INTRON/RP4-533D7.5_ENST00000452785.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||1123|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(172)_%7C_lung(323)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_stomach(14)_%7C_upper_aerodigestive_tract(121)|||||||Y13809|NM_003629.3|NP_003620.3|HGNC:8981|phosphoinositide-3-kinase_%20_regulatory_%20_subunit_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_regulatory_%20_subunit_%20_3_%20_(gamma)"|p55|"phosphoinositide-3-kinase_%20_regulatory_%20_subunit_%20_gamma"|1p34.1|2015-11-17||2015-11-17|BC021622||8503|ENSG00000117461|9524259|NM_003629|741|SH2_%20_domain_%20_containing|CCDS529_%2C__%20_CCDS76154_%2C__%20_CCDS76155|OTTHUMG00000008096|8503|606076|NM_001114172|Q92569|ENSG00000117461|uc001cpc.5|P55G_HUMAN|Isoprenaline(DB01064)|B2R9C1_%7C_D3DQ12_%7C_O60482_%7C_Q5T4P1_%7C_Q5T4P2|Q92569|insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol-3-phosphate_%20_biosynthetic_%20_process_%20_(GO:0036092)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_phosphatidylinositol_%20_3-kinase_%20_regulator_%20_activity_%20_(GO:0035014)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 46646780 exm56088 A G . PASS FUNCOTATION=[TSPAN1|hg19|chr1|46646780|46646780|START_CODON_SNP||SNP|A|A|G|g.chr1:46646780A>G|ENST00000372003.1|+|3|465|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5187032418952618|AGGAGCCACCATGCAGTGCTT|PIK3R3_ENST00000540385.1_FIVE_PRIME_FLANK/TSPAN1_ENST00000498443.1_INTRON/RP11-322N21.2_ENST00000506599.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471059|NM_005727.3|NP_005718.2|HGNC:20657|tetraspanin_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||TSPAN-1_%2C__%20_NET-1||1p34.1|2016-10-05|||BC013404||10103|ENSG00000117472|9714763_%2C__%20_10719184|NM_005727|768|Tetraspanins|CCDS530|OTTHUMG00000007602|10103|613170|NM_005727|O60635|ENSG00000117472|uc001cpd.4|TSN1_HUMAN||D3DQ14_%7C_O60745_%7C_Q5VST0|O60635|cell_%20_migration_%20_(GO:0016477)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_positive_%20_regulation_%20_of_%20_endocytosis_%20_(GO:0045807)_%7C_protein_%20_stabilization_%20_(GO:0050821)_%7C_thiamine_%20_transmembrane_%20_transport_%20_(GO:0071934)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosome_%20_(GO:0005764)_%7C_membrane_%20_(GO:0016020)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|thiamine_%20_uptake_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015403)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 46826473 indel.3258 TG T . PASS FUNCOTATION=[NSUN4|hg19|chr1|46826474|46826474|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:46826474delG|ENST00000474844.1|+|5|1501|c.852delG|c.(850-852)ttgfs|p.L284fs|0.4688279301745636|GACAGATATTGCCTGTGCTGC|NSUN4_ENST00000537428.1_FRAME_SHIFT_DEL_p.L235fs/NSUN4_ENST00000536062.1_FRAME_SHIFT_DEL_p.L235fs/NSUN4_ENST00000498008.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_199044.3|NP_950245.2|HGNC:31802|NOP2/Sun_%20_RNA_%20_methyltransferase_%20_family_%20_member_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"NOL1/NOP2/Sun_%20_domain_%20_family_%2C__%20_member_%20_4"_%2C__%20_"NOP2/Sun_%20_domain_%20_family_%2C__%20_member_%20_4"|MGC22960_%2C__%20_SHTAP|"sperm_%20_head_%20_and_%20_tail_%20_associated_%20_protein"|1p33|2016-10-05||2015-11-17|AK021577||387338|ENSG00000117481||NM_199044|664|NOP2/Sun_%20_RNA_%20_methyltransferase_%20_family|CCDS534_%2C__%20_CCDS57996|OTTHUMG00000007808|387338|615394|NM_001256127|Q96CB9|ENSG00000117481|uc001cpr.3|NSUN4_HUMAN||A8K6S6_%7C_B3KQ50_%7C_B4DHA4_%7C_Q5TDF7_%7C_Q96AN8_%7C_Q9HAJ8|Q96CB9|rRNA_%20_methylation_%20_(GO:0031167)|mitochondrial_%20_large_%20_ribosomal_%20_subunit_%20_(GO:0005762)|methyltransferase_%20_activity_%20_(GO:0008168)_%7C_rRNA_%20_binding_%20_(GO:0019843)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 46905802 rs11211276 G T . PASS FUNCOTATION=[RP5-1109J22.1|hg19|chr1|46905802|46905802|RNA||SNP|G|G|T|g.chr1:46905802G>T|ENST00000429784.2|+|||c.e3-536G>T|||0.5187032418952618|CTGAAGTTGAGATTAGGTTTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 47005597 psy_rs75939162 C T . PASS FUNCOTATION=[MKNK1-AS1|hg19|chr1|47005597|47005597|RNA||SNP|C|C|T|g.chr1:47005597C>T|ENST00000602433.1|+|||c.e2-1005C>T|||0.5586034912718204|CCTCTTGGCTCCAGATTCCTG|||||||||||||||||||||||||||||||||||||HGNC:44129|MKNK1_%20_antisense_%20_RNA_%20_1|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA||"MKNK1_%20_antisense_%20_RNA_%20_1_%20_(non-protein_%20_coding)"|||1p33|2012-10-12||2012-08-15|AK097731||100507423|||NR_038403|||||100507423||NR_038403||ENSG00000269956|uc021onb.1|||||||||||true|false|0.9918_%2C_0.008187|false|false|1||false|false|false|MKNK1-AS1:100507423|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|75939162|47005597|false|false|0|true|0|false|0.984271_%2C_0.0157291|false|false|false|SNV|true|0x050100080005040436000100|1|false|132|rs75939162|] +1 47006657 rs2486164 C T . PASS FUNCOTATION=[MKNK1-AS1|hg19|chr1|47006657|47006657|RNA||SNP|C|C|T|g.chr1:47006657C>T|ENST00000602433.1|+|||c.e2-24C>T|||0.543640897755611|CACAAGACTCCGAAGGCTTCT|||||||||||||||||||||||||||||||||||||HGNC:44129|MKNK1_%20_antisense_%20_RNA_%20_1|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA||"MKNK1_%20_antisense_%20_RNA_%20_1_%20_(non-protein_%20_coding)"|||1p33|2012-10-12||2012-08-15|AK097731||100507423|||NR_038403|||||100507423||NR_038403||ENSG00000269956|uc021onb.1|||||||||||true|false|0.9193_%2C_0.08067|false|false|1||false|true|false|MKNK1-AS1:100507423|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2486164|47006657|false|false|0|true|0|false|0.908716_%2C_0.0912837|false|false|false|SNV|true|0x05010000000515053f000100|1|false|100|rs2486164|] +1 47011762 rs885125 A G . PASS FUNCOTATION=[MKNK1-AS1|hg19|chr1|47011762|47011762|RNA||SNP|A|A|G|g.chr1:47011762A>G|ENST00000602433.1|+|||c.e3+2322A>G|||0.5211970074812967|GGTCTGTCGCACTGTTGTCAG|||||||||||||||||||||||||||||||||||||HGNC:44129|MKNK1_%20_antisense_%20_RNA_%20_1|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA||"MKNK1_%20_antisense_%20_RNA_%20_1_%20_(non-protein_%20_coding)"|||1p33|2012-10-12||2012-08-15|AK097731||100507423|||NR_038403|||||100507423||NR_038403||ENSG00000269956|uc021onb.1|||||||||||true|false|0.4273_%2C_0.5727|false|false|1||false|true|true|MKNK1-AS1:100507423_%7C_KNCN:148930|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|885125|47011762|false|false|0|true|0|false|0.473659_%2C_0.526341|false|true|false|SNV|true|0x05010088000517053f000100|1|false|86|rs885125|] +1 47013404 exm56794 A G . PASS FUNCOTATION=[KNCN|hg19|chr1|47013404|47013404|NONSTOP||SNP|A|A|G|g.chr1:47013404A>G|ENST00000396314.3|-|3|304|c.304T>C|c.(304-306)Tga>Cga|p.*102R|0.6508728179551122|ACTTTGCCTCAGCATTCCTCA|KNCN_ENST00000481882.2_NONSTOP_p.*125R/MKNK1-AS1_ENST00000602433.1_RNA/KNCN_ENST00000524908.1_INTRON|||||||||||||||||||||||||||||||||DA208279|NM_001097611.1|NP_001091080.1|HGNC:26488|kinocilin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32011_%2C__%20_KINO_%2C__%20_L5||1p33|2014-02-12||2006-10-26|AK056573||148930|ENSG00000162456|15855039|NM_182516|||CCDS44133_%2C__%20_CCDS81316|OTTHUMG00000007987|148930|611455|NM_001097611|A6PVL3|ENSG00000162456|uc009vyh.2|KNCN_HUMAN||A8MXE3|A6PVL3||apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_ciliary_%20_basal_%20_body_%20_(GO:0036064)_%7C_cuticular_%20_plate_%20_(GO:0032437)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_kinocilium_%20_(GO:0060091)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)|||||true|false|0.9964_%2C_0.003594|false|false|1||false|false|false|MKNK1-AS1:100507423_%7C_KNCN:148930|false|true|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|140455646|47013404|false|false|0|false|0|false|0.993337_%2C_0.00666255|false|false|false|SNV|true|0x050000080205040426000100|1|false|134|rs140455646|] +1 47075329 exm56885 A G . PASS FUNCOTATION=[MOB3C|hg19|chr1|47075329|47075329|NONSTOP||SNP|A|A|G|g.chr1:47075329A>G|ENST00000371940.1|-|3|3793|c.718T>C|c.(718-720)Tga>Cga|p.*240R|0.543640897755611|ACCTGGGCTCAGTGGCAGATC|MOB3C_ENST00000271139.8_NONSTOP_p.*269R/MOB3C_ENST00000319928.3_NONSTOP_p.*217R/MKNK1_ENST00000545730.1_INTRON|||||||||||||||||||||||||||||||||CH471059|||HGNC:29800|MOB_%20_kinase_%20_activator_%20_3C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MOBKL2C|"MOB1_%2C__%20_Mps_%20_One_%20_Binder_%20_kinase_%20_activator-like_%20_2C_%20_(yeast)"|MOB1E||1p33|2016-10-05|2011-09-28|2011-09-28|AK091808||148932|ENSG00000142961|12477932|NM_145279|647|MOB_%20_kinase_%20_activators|CCDS539_%2C__%20_CCDS540|OTTHUMG00000007989|148932||NM_145279|Q70IA8|ENSG00000142961|uc001cqf.4|MOB3C_HUMAN||D3DQ22_%7C_Q0VA98_%7C_Q5TC10_%7C_Q5TC11_%7C_Q8NAZ2_%7C_Q8NF28|Q70IA8|||metal_%20_ion_%20_binding_%20_(GO:0046872)||||true|false||false|false|||false|false|false|MOB3C:148932|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|149444077|47075329|false|false|0|true|0|false|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050100000205040402000100|1|false|134|rs149444077|] +1 47264724 rs2297813 G T . PASS FUNCOTATION=[CYP4B1|hg19|chr1|47264724|47264724|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:47264724G>T|ENST00000371923.4|+|1|||||0.5610972568578554|AGGCAGGTCAGATGAAGGCTA|CYP4B1_ENST00000271153.4_FIVE_PRIME_UTR/CYP4B1_ENST00000371919.4_FIVE_PRIME_FLANK/CYP4B1_ENST00000546128.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X16699|NM_001099772.1|NP_001093242.1|HGNC:2644|cytochrome_%20_P450_%20_family_%20_4_%20_subfamily_%20_B_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"cytochrome_%20_P450_%2C__%20_subfamily_%20_IVB_%2C__%20_polypeptide_%20_1"_%2C__%20_"cytochrome_%20_P450_%2C__%20_family_%20_4_%2C__%20_subfamily_%20_B_%2C__%20_polypeptide_%20_1"|||1p33|2015-12-09||2015-12-09|BC017758||1580|ENSG00000142973||NM_000779|1003|Cytochrome_%20_P450_%20_family_%20_4|CCDS542_%2C__%20_CCDS41328_%2C__%20_CCDS81318|OTTHUMG00000007984|1580|124075|NM_000779|P13584|ENSG00000142973|uc001cqm.5|CP4B1_HUMAN|Midazolam(DB00683)_%7C_Phenobarbital(DB01174)_%7C_Thiamine(DB00152)|Q1HBI2_%7C_Q8TD85_%7C_Q8WWF2_%7C_Q8WWU9_%7C_Q8WWV0|P13584|biphenyl_%20_metabolic_%20_process_%20_(GO:0018879)_%7C_exogenous_%20_drug_%20_catabolic_%20_process_%20_(GO:0042738)_%7C_fluorene_%20_metabolic_%20_process_%20_(GO:0018917)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)|aromatase_%20_activity_%20_(GO:0070330)_%7C_drug_%20_binding_%20_(GO:0008144)_%7C_fluorene_%20_oxygenase_%20_activity_%20_(GO:0018585)_%7C_heme_%20_binding_%20_(GO:0020037)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)_%7C_oxygen_%20_binding_%20_(GO:0019825)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 47309265 exm2264832 A G . PASS FUNCOTATION=[CYP4Z2P|hg19|chr1|47309265|47309265|RNA||SNP|A|A|G|g.chr1:47309265A>G|ENST00000505841.1|-|||c.e12+415T>C|||0.4488778054862843|CTTTTGTAGGAAAACAAGATC|||||||||||||||||||||||||||||||||||||HGNC:24426|cytochrome_%20_P450_%20_family_%20_4_%20_subfamily_%20_Z_%20_member_%20_2_%2C__%20_pseudogene|Approved|pseudogene|pseudogene||"cytochrome_%20_P450_%2C__%20_family_%20_4_%2C__%20_subfamily_%20_Z_%2C__%20_polypeptide_%20_2_%2C__%20_pseudogene"|FLJ40054||1p33|2015-12-09||2015-12-09|AY262057||163720|ENSG00000154198|15059886|NR_002788|1003|Cytochrome_%20_P450_%20_family_%20_4||OTTHUMG00000008024|163720||NR_002788|Q8N1L4|ENSG00000154198||CP4Z2_HUMAN||Q66ZJ5|Q8N1L4||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|heme_%20_binding_%20_(GO:0020037)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)_%7C_oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_paired_%20_donors_%2C__%20_with_%20_incorporation_%20_or_%20_reduction_%20_of_%20_molecular_%20_oxygen_%20_(GO:0016705)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 47309265 rs10749865 A G . PASS FUNCOTATION=[CYP4Z2P|hg19|chr1|47309265|47309265|RNA||SNP|A|A|G|g.chr1:47309265A>G|ENST00000505841.1|-|||c.e12+415T>C|||0.4488778054862843|CTTTTGTAGGAAAACAAGATC|||||||||||||||||||||||||||||||||||||HGNC:24426|cytochrome_%20_P450_%20_family_%20_4_%20_subfamily_%20_Z_%20_member_%20_2_%2C__%20_pseudogene|Approved|pseudogene|pseudogene||"cytochrome_%20_P450_%2C__%20_family_%20_4_%2C__%20_subfamily_%20_Z_%2C__%20_polypeptide_%20_2_%2C__%20_pseudogene"|FLJ40054||1p33|2015-12-09||2015-12-09|AY262057||163720|ENSG00000154198|15059886|NR_002788|1003|Cytochrome_%20_P450_%20_family_%20_4||OTTHUMG00000008024|163720||NR_002788|Q8N1L4|ENSG00000154198||CP4Z2_HUMAN||Q66ZJ5|Q8N1L4||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|heme_%20_binding_%20_(GO:0020037)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)_%7C_oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_paired_%20_donors_%2C__%20_with_%20_incorporation_%20_or_%20_reduction_%20_of_%20_molecular_%20_oxygen_%20_(GO:0016705)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 47326226 rs6679068 T C . PASS FUNCOTATION=[CYP4Z2P|hg19|chr1|47326226|47326226|RNA||SNP|T|T|C|g.chr1:47326226T>C|ENST00000505841.1|-|||c.e9+767A>G|||0.38902743142144636|CAATGCTAGATATTGGTTCAT|||||||||||||||||||||||||||||||||||||HGNC:24426|cytochrome_%20_P450_%20_family_%20_4_%20_subfamily_%20_Z_%20_member_%20_2_%2C__%20_pseudogene|Approved|pseudogene|pseudogene||"cytochrome_%20_P450_%2C__%20_family_%20_4_%2C__%20_subfamily_%20_Z_%2C__%20_polypeptide_%20_2_%2C__%20_pseudogene"|FLJ40054||1p33|2015-12-09||2015-12-09|AY262057||163720|ENSG00000154198|15059886|NR_002788|1003|Cytochrome_%20_P450_%20_family_%20_4||OTTHUMG00000008024|163720||NR_002788|Q8N1L4|ENSG00000154198||CP4Z2_HUMAN||Q66ZJ5|Q8N1L4||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|heme_%20_binding_%20_(GO:0020037)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)_%7C_oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_paired_%20_donors_%2C__%20_with_%20_incorporation_%20_or_%20_reduction_%20_of_%20_molecular_%20_oxygen_%20_(GO:0016705)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 47400133 indel.3307 AG A . PASS FUNCOTATION=[CYP4A11|hg19|chr1|47400134|47400134|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:47400134delG|ENST00000310638.4|-|7|921|c.888delC|c.(886-888)ctcfs|p.L297fs|0.543640897755611|CTTTGGCCAAGAGGAGGATAT|CYP4A11_ENST00000462347.1_FRAME_SHIFT_DEL_p.G246fs/CYP4A11_ENST00000371905.1_FRAME_SHIFT_DEL_p.L297fs/CYP4A11_ENST00000371904.4_FRAME_SHIFT_DEL_p.L298fs/CYP4A11_ENST00000457840.2_FRAME_SHIFT_DEL_p.G142fs/CYP4A11_ENST00000496519.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||194|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(104)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X71480|NM_000778.3|NP_000769.2|HGNC:2642|cytochrome_%20_P450_%20_family_%20_4_%20_subfamily_%20_A_%20_member_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CYP4A2|"cytochrome_%20_P450_%2C__%20_subfamily_%20_IVA_%2C__%20_polypeptide_%20_11"_%2C__%20_"cytochrome_%20_P450_%2C__%20_family_%20_4_%2C__%20_subfamily_%20_A_%2C__%20_polypeptide_%20_11"|CYP4AII||1p33|2015-12-09||2015-12-09|L04751||1579|ENSG00000187048|7679927|NM_000778|1003|Cytochrome_%20_P450_%20_family_%20_4|CCDS543|OTTHUMG00000008020|1579|601310|NM_000778|Q02928|ENSG00000187048|uc001cqp.5|CP4AB_HUMAN|Cisplatin(DB00515)_%7C_Clofibrate(DB00636)_%7C_Dexamethasone(DB01234)_%7C_Estrone(DB00655)_%7C_Ethanol(DB00898)_%7C_Lansoprazole(DB00448)_%7C_Pegvisomant(DB00082)_%7C_Pentamidine(DB00738)_%7C_Phenobarbital(DB01174)_%7C_Rifampicin(DB01045)_%7C_Tretinoin(DB00755)|Q06766_%7C_Q16865_%7C_Q16866_%7C_Q5VSP8_%7C_Q86SU6_%7C_Q8IWY5|Q02928|arachidonic_%20_acid_%20_metabolic_%20_process_%20_(GO:0019369)_%7C_cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_epoxygenase_%20_P450_%20_pathway_%20_(GO:0019373)_%7C_fatty_%20_acid_%20_metabolic_%20_process_%20_(GO:0006631)_%7C_leukotriene_%20_B4_%20_catabolic_%20_process_%20_(GO:0036101)_%7C_leukotriene_%20_metabolic_%20_process_%20_(GO:0006691)_%7C_long-chain_%20_fatty_%20_acid_%20_metabolic_%20_process_%20_(GO:0001676)_%7C_omega-hydroxylase_%20_P450_%20_pathway_%20_(GO:0097267)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_positive_%20_regulation_%20_of_%20_icosanoid_%20_secretion_%20_(GO:0032305)_%7C_pressure_%20_natriuresis_%20_(GO:0003095)_%7C_renal_%20_water_%20_homeostasis_%20_(GO:0003091)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_sodium_%20_ion_%20_homeostasis_%20_(GO:0055078)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_cytoplasm_%20_(GO:0005737)_%7C_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)|alkane_%20_1-monooxygenase_%20_activity_%20_(GO:0018685)_%7C_arachidonic_%20_acid_%20_epoxygenase_%20_activity_%20_(GO:0008392)_%7C_arachidonic_%20_acid_%20_omega-hydroxylase_%20_activity_%20_(GO:0052869)_%7C_heme_%20_binding_%20_(GO:0020037)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)_%7C_leukotriene-B4_%20_20-monooxygenase_%20_activity_%20_(GO:0050051)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 47400148 indel.3308 GA G . PASS FUNCOTATION=[CYP4A11|hg19|chr1|47400149|47400149|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:47400149delA|ENST00000310638.4|-|7|906|c.873delT|c.(871-873)tttfs|p.L292fs|0.5386533665835411|GGATATCCAGAAAATCCAAAT|CYP4A11_ENST00000462347.1_FRAME_SHIFT_DEL_p.S240fs/CYP4A11_ENST00000371905.1_FRAME_SHIFT_DEL_p.L292fs/CYP4A11_ENST00000371904.4_FRAME_SHIFT_DEL_p.L293fs/CYP4A11_ENST00000457840.2_FRAME_SHIFT_DEL_p.S136fs/CYP4A11_ENST00000496519.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||194|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(104)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X71480|NM_000778.3|NP_000769.2|HGNC:2642|cytochrome_%20_P450_%20_family_%20_4_%20_subfamily_%20_A_%20_member_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CYP4A2|"cytochrome_%20_P450_%2C__%20_subfamily_%20_IVA_%2C__%20_polypeptide_%20_11"_%2C__%20_"cytochrome_%20_P450_%2C__%20_family_%20_4_%2C__%20_subfamily_%20_A_%2C__%20_polypeptide_%20_11"|CYP4AII||1p33|2015-12-09||2015-12-09|L04751||1579|ENSG00000187048|7679927|NM_000778|1003|Cytochrome_%20_P450_%20_family_%20_4|CCDS543|OTTHUMG00000008020|1579|601310|NM_000778|Q02928|ENSG00000187048|uc001cqp.5|CP4AB_HUMAN|Cisplatin(DB00515)_%7C_Clofibrate(DB00636)_%7C_Dexamethasone(DB01234)_%7C_Estrone(DB00655)_%7C_Ethanol(DB00898)_%7C_Lansoprazole(DB00448)_%7C_Pegvisomant(DB00082)_%7C_Pentamidine(DB00738)_%7C_Phenobarbital(DB01174)_%7C_Rifampicin(DB01045)_%7C_Tretinoin(DB00755)|Q06766_%7C_Q16865_%7C_Q16866_%7C_Q5VSP8_%7C_Q86SU6_%7C_Q8IWY5|Q02928|arachidonic_%20_acid_%20_metabolic_%20_process_%20_(GO:0019369)_%7C_cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_epoxygenase_%20_P450_%20_pathway_%20_(GO:0019373)_%7C_fatty_%20_acid_%20_metabolic_%20_process_%20_(GO:0006631)_%7C_leukotriene_%20_B4_%20_catabolic_%20_process_%20_(GO:0036101)_%7C_leukotriene_%20_metabolic_%20_process_%20_(GO:0006691)_%7C_long-chain_%20_fatty_%20_acid_%20_metabolic_%20_process_%20_(GO:0001676)_%7C_omega-hydroxylase_%20_P450_%20_pathway_%20_(GO:0097267)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_positive_%20_regulation_%20_of_%20_icosanoid_%20_secretion_%20_(GO:0032305)_%7C_pressure_%20_natriuresis_%20_(GO:0003095)_%7C_renal_%20_water_%20_homeostasis_%20_(GO:0003091)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_sodium_%20_ion_%20_homeostasis_%20_(GO:0055078)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_cytoplasm_%20_(GO:0005737)_%7C_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)|alkane_%20_1-monooxygenase_%20_activity_%20_(GO:0018685)_%7C_arachidonic_%20_acid_%20_epoxygenase_%20_activity_%20_(GO:0008392)_%7C_arachidonic_%20_acid_%20_omega-hydroxylase_%20_activity_%20_(GO:0052869)_%7C_heme_%20_binding_%20_(GO:0020037)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)_%7C_leukotriene-B4_%20_20-monooxygenase_%20_activity_%20_(GO:0050051)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 47514283 indel.3316 TG T . PASS FUNCOTATION=[CYP4X1|hg19|chr1|47514284|47514284|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:47514284delG|ENST00000371901.3|+|10|1504|c.1255delG|c.(1255-1257)gtcfs|p.V419fs|0.4014962593516209|CAACCCTGCTGTCTGGAAAAA|CYP4X1_ENST00000538609.1_FRAME_SHIFT_DEL_p.V418fs|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471059|NM_178033.1|NP_828847.1|HGNC:20244|cytochrome_%20_P450_%20_family_%20_4_%20_subfamily_%20_X_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"cytochrome_%20_P450_%2C__%20_family_%20_4_%2C__%20_subfamily_%20_X_%2C__%20_polypeptide_%20_1"|MGC40051||1p33|2015-12-09||2015-12-09|AK091806||260293|ENSG00000186377|12176035|NM_178033|1003|Cytochrome_%20_P450_%20_family_%20_4|CCDS544|OTTHUMG00000008017|260293|614999|NM_001320289|Q8N118|ENSG00000186377|uc001cqt.3|CP4X1_HUMAN||G3V1U1_%7C_Q5VVE5_%7C_Q6ZN67_%7C_Q8NAZ3|Q8N118||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|aromatase_%20_activity_%20_(GO:0070330)_%7C_heme_%20_binding_%20_(GO:0020037)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 47610057 indel.3329 AC A . PASS FUNCOTATION=[CYP4A22|hg19|chr1|47610058|47610058|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:47610058delC|ENST00000371891.3|+|7|850|c.820delC|c.(820-822)ctafs|p.L274fs|0.5511221945137157|GAAGGCTCAACTACAGAAGGA|CYP4A22_ENST00000371890.3_FRAME_SHIFT_DEL_p.T222fs/CYP4A22_ENST00000294337.3_FRAME_SHIFT_DEL_p.L274fs/CYP4A22-AS1_ENST00000444042.2_LINCRNA/CYP4A22_ENST00000485117.1_INTRON|Pancreas(88_%3B_1240_%20_1470_%20_2099_%20_14214_%20_37557)||||||||||||||||||||||||136|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(44)_%7C_large_intestine(35)_%7C_lung(1)_%7C_pancreas(22)|||||||BC148248|NM_001010969.2|NP_001010969.2|HGNC:20575|cytochrome_%20_P450_%20_family_%20_4_%20_subfamily_%20_A_%20_member_%20_22|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"cytochrome_%20_P450_%2C__%20_family_%20_4_%2C__%20_subfamily_%20_A_%2C__%20_polypeptide_%20_22"|||1p33|2015-12-09||2015-12-09|||284541|ENSG00000162365||XM_208213|1003|Cytochrome_%20_P450_%20_family_%20_4|CCDS30707_%2C__%20_CCDS76160|OTTHUMG00000007845|284541|615341|NM_001010969|Q5TCH4|ENSG00000162365|uc001cqv.2|CP4AM_HUMAN||Q5TCH3_%7C_Q6JXK7_%7C_Q6JXK8_%7C_Q9NRM4|Q5TCH4||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_membrane_%20_(GO:0016020)|alkane_%20_1-monooxygenase_%20_activity_%20_(GO:0018685)_%7C_arachidonic_%20_acid_%20_omega-hydroxylase_%20_activity_%20_(GO:0052869)_%7C_heme_%20_binding_%20_(GO:0020037)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 47854514 rs17103186 C T . PASS FUNCOTATION=[RP11-511I2.2|hg19|chr1|47854514|47854514|RNA||SNP|C|C|T|g.chr1:47854514C>T|ENST00000420876.1|-|||c.e2+2486G>A|||0.49875311720698257|AGAGATAGTCCGGGGTAGGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 47867150 rs6679121 G A . PASS FUNCOTATION=[RP11-511I2.2|hg19|chr1|47867150|47867150|RNA||SNP|G|G|A|g.chr1:47867150G>A|ENST00000420876.1|-|||c.e1-6842C>T|||0.41895261845386533|AACTCCAGAGGGCAGGGATTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 47868005 rs11579058 C T . PASS FUNCOTATION=[RP11-511I2.2|hg19|chr1|47868005|47868005|RNA||SNP|C|C|T|g.chr1:47868005C>T|ENST00000420876.1|-|||c.e1-5987G>A|||0.49625935162094764|TGCCCCAGGACGCTTGGCTTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 47870271 rs7528075 G A . PASS FUNCOTATION=[RP11-511I2.2|hg19|chr1|47870271|47870271|RNA||SNP|G|G|A|g.chr1:47870271G>A|ENST00000420876.1|-|||c.e1-3721C>T|||0.4538653366583541|TTCAAACACTGGGTTTCACAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 48630438 rs10788882 G C . PASS FUNCOTATION=[SKINTL|hg19|chr1|48630438|48630438|RNA||SNP|G|G|C|g.chr1:48630438G>C|ENST00000453388.1|-|||c.e5+56C>G|||0.4114713216957606|TCCTGGGAATGGGATTTTGAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||SKIT1_HUMAN|||A8MVG2||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.3618_%2C_0.6382|false|false|1||false|true|true|SKINT1L:391037|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|10788882|48630438|false|false|0|true|0|false|0.31496_%2C_0.68504|false|false|false|SNV|true|0x05012800000517053f000100|1|false|120|rs10788882|] +1 50673575 psy_rs1467725 G A . PASS FUNCOTATION=[RP11-567C20.3|hg19|chr1|50673575|50673575|RNA||SNP|G|G|A|g.chr1:50673575G>A|ENST00000440897.1|-|||c.e2+1595C>T|||0.42643391521197005|CAAAAAAGCAGGAAAGGAAAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 50679059 rs2480687 G A . PASS FUNCOTATION=[RP11-567C20.3|hg19|chr1|50679059|50679059|RNA||SNP|G|G|A|g.chr1:50679059G>A|ENST00000440897.1|-|||c.e2+7079C>T|||0.4389027431421446|CCTCAATGGTGTCCCTAGGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 51770773 indel.3397 CA C . PASS FUNCOTATION=[TTC39A|hg19|chr1|51770774|51770774|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:51770774delA|ENST00000262676.5|-|8|891|c.729delT|c.(727-729)tttfs|p.F243fs|0.57356608478803|AAAACCCCACAAACTCCAACA|TTC39A_ENST00000447632.2_FRAME_SHIFT_DEL_p.F247fs/TTC39A_ENST00000413473.2_FRAME_SHIFT_DEL_p.F215fs/TTC39A_ENST00000262675.7_FRAME_SHIFT_DEL_p.F184fs/TTC39A_ENST00000371750.5_FRAME_SHIFT_DEL_p.F212fs/TTC39A_ENST00000371747.3_FRAME_SHIFT_DEL_p.F246fs/TTC39A_ENST00000451380.1_FRAME_SHIFT_DEL_p.F211fs|||||||||||||||||||||||||22|central_nervous_system(22)|||||||CX788693|||HGNC:18657|tetratricopeptide_%20_repeat_%20_domain_%20_39A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf34|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_34"|KIAA0452_%2C__%20_DEME-6||1p32.3|2015-08-26|2008-06-23|2008-06-23|AB007921||22996|ENSG00000085831|9455484_%2C__%20_9461476||769|Tetratricopeptide_%20_repeat_%20_domain_%20_containing|CCDS44143_%2C__%20_CCDS44144_%2C__%20_CCDS72789_%2C__%20_CCDS72790_%2C__%20_CCDS76162_%2C__%20_CCDS76163|OTTHUMG00000008193|22996||NM_001080494|Q5SRH9|ENSG00000085831|uc001csl.4|TT39A_HUMAN||B7Z782_%7C_E7EQY9_%7C_G3XAF8_%7C_O43417_%7C_O75040_%7C_Q5SRH5_%7C_Q5SRH6_%7C_Q5SRH7_%7C_Q5SRH8_%7C_Q5SRI0_%7C_Q5SRI1_%7C_Q5SRI2_%7C_Q5T7S1_%7C_Q6PIU8_%7C_Q9BT24|Q5SRH9|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 52521798 rs2809954 G T . PASS FUNCOTATION=[TXNDC12|hg19|chr1|52521798|52521798|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:52521798G>T|ENST00000371626.4|-|1|||||0.5586034912718204|GAGACTGCAAGCCCCAGGATG|BTF3L4_ENST00000313334.8_FIVE_PRIME_UTR/BTF3L4_ENST00000472944.2_FIVE_PRIME_FLANK/BTF3L4_ENST00000484036.1_FIVE_PRIME_FLANK/BTF3L4_ENST00000489308.2_FIVE_PRIME_FLANK/TXNDC12_ENST00000610127.1_FIVE_PRIME_FLANK/BTF3L4_ENST00000533836.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC008953|NM_015913.3|NP_056997.1|HGNC:24626|thioredoxin_%20_domain_%20_containing_%20_12|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"thioredoxin_%20_domain_%20_containing_%20_12_%20_(endoplasmic_%20_reticulum)"|TLP19_%2C__%20_ERP18_%2C__%20_ERP19_%2C__%20_hAG-1_%2C__%20_AGR1_%2C__%20_PDIA16|"endoplasmic_%20_reticulum_%20_thioredoxin_%20_superfamily_%20_member_%2C__%20_18_%20_kDa"_%2C__%20_"anterior_%20_gradient_%20_homolog_%20_1_%20_(Xenopus_%20_laevis)"_%2C__%20_"protein_%20_disulfide_%20_isomerase_%20_family_%20_A_%2C__%20_member_%20_16"|1p32.3|2016-03-31||2016-03-31|AF131758||51060|ENSG00000117862|8619474_%2C__%20_9110174|NM_015913|692|Protein_%20_disulfide_%20_isomerases|CCDS561|OTTHUMG00000008629|51060|609448|NM_015913|O95881|ENSG00000117862|uc001cti.5|TXD12_HUMAN|Glutathione(DB00143)|B3KQS0_%7C_Q5T1T4_%7C_Q96H50|O95881|cell_%20_redox_%20_homeostasis_%20_(GO:0045454)|endoplasmic_%20_reticulum_%20_(GO:0005783)|protein-disulfide_%20_reductase_%20_(glutathione)_%20_activity_%20_(GO:0019153)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 52859335 indel.3466 GA G . PASS FUNCOTATION=[ORC1|hg19|chr1|52859336|52859336|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:52859336delA|ENST00000371568.3|-|6|1081|c.861delT|c.(859-861)tctfs|p.P288fs|0.4463840399002494|TCAGAGCTGGAGACAAGGTTT|ORC1_ENST00000371566.1_FRAME_SHIFT_DEL_p.P288fs|||||||||||||||||||||||||161|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U43416|NM_004153.3|NP_004144.2|HGNC:8487|origin_%20_recognition_%20_complex_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ORC1L|"origin_%20_recognition_%20_complex_%2C__%20_subunit_%20_1_%20_(yeast_%20_homolog)-like"_%2C__%20_"origin_%20_recognition_%20_complex_%2C__%20_subunit_%20_1-like_%20_(yeast)"_%2C__%20_"origin_%20_recognition_%20_complex_%2C__%20_subunit_%20_1_%20_homolog_%20_(S._%20_cerevisiae)"_%2C__%20_"origin_%20_recognition_%20_complex_%2C__%20_subunit_%20_1"|HSORC1_%2C__%20_PARC1|"origin_%20_recognition_%20_complex_%2C__%20_subunit_%20_1_%2C__%20_S._%20_cerevisiae_%2C__%20_homolog-like"_%2C__%20_"origin_%20_recognition_%20_complex_%20_1"_%2C__%20_"replication_%20_control_%20_protein_%20_1"|1p32.3|2016-10-05|2010-10-12|2015-11-12|||4998|ENSG00000085840|8884289|NM_004153|413_%7C_960|AAA_%20_ATPases_%7C_Origin_%20_recognition_%20_complex_%20_|CCDS566|OTTHUMG00000008104|4998|601902|NM_001190818|Q13415|ENSG00000085840|uc001ctt.4|ORC1_HUMAN||D3DQ34_%7C_Q13471_%7C_Q5T0F5|Q13415|DNA_%20_replication_%20_(GO:0006260)_%7C_DNA_%20_replication_%20_initiation_%20_(GO:0006270)_%7C_G1/S_%20_transition_%20_of_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0000082)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_regulation_%20_of_%20_transcription_%20_involved_%20_in_%20_G1/S_%20_transition_%20_of_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0000083)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_nuclear_%20_origin_%20_of_%20_replication_%20_recognition_%20_complex_%20_(GO:0005664)_%7C_nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_origin_%20_recognition_%20_complex_%20_(GO:0000808)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ATP_%20_binding_%20_(GO:0005524)_%7C_chromatin_%20_binding_%20_(GO:0003682)_%7C_DNA_%20_binding_%20_(GO:0003677)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 53158510 indel.3481 CTTCCAAATAGTCCA C . PASS FUNCOTATION=[SELRC1|hg19|chr1|53158511|53158524|FRAME_SHIFT_DEL||DEL|TTCCAAATAGTCCA|TTCCAAATAGTCCA|-|g.chr1:53158511_53158524delTTCCAAATAGTCCA|ENST00000371538.3|-|2|176_189|c.122_135delTGGACTATTTGGAA|c.(121-138)gtggactatttggaagggfs|p.V41fs|0.5289855072463768|TCCGGATCCCTTCCAAATAGTCCACCAGCCGATA|SELRC1_ENST00000486918.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC015313|NM_023077.2|NP_075565.2||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 53163901 indel.3482 TC T . PASS FUNCOTATION=[SELRC1|hg19|chr1|53163902|53163902|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:53163902delC|ENST00000371538.3|-|1|138|c.97delG|c.(97-99)gacfs|p.D33fs|0.6982543640897756|CCGTCCGGGTCCTTCTCGTGG|SELRC1_ENST00000486918.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC015313|NM_023077.2|NP_075565.2||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 53741391 exm60486 A G . PASS FUNCOTATION=[LRP8|hg19|chr1|53741391|53741391|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:53741391A>G|ENST00000465675.1|-|5|||||0.57356608478803|TCCCATCCCCACACTGGAACT|LRP8_ENST00000347547.2_INTRON/LRP8_ENST00000306052.6_SILENT_p.C306C/LRP8_ENST00000371454.2_SILENT_p.C306C/LRP8_ENST00000354412.3_SILENT_p.C177C|||||||||||||||||||||||||160|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||AL606760|||HGNC:6700|LDL_%20_receptor_%20_related_%20_protein_%20_8|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"low_%20_density_%20_lipoprotein_%20_receptor-related_%20_protein_%20_8_%2C__%20_apolipoprotein_%20_e_%20_receptor"|APOER2_%2C__%20_MCI1_%2C__%20_LRP-8_%2C__%20_HSZ75190||1p32.3|2015-11-13||2015-11-13|D50678||7804|ENSG00000157193|8626535_%2C__%20_9079678|NM_004631|634|Low_%20_density_%20_lipoprotein_%20_receptors|CCDS578_%2C__%20_CCDS579_%2C__%20_CCDS580_%2C__%20_CCDS30720|OTTHUMG00000008924|7804|602600|NM_001018054|Q14114|ENSG00000157193|uc001cvi.4|LRP8_HUMAN||B1AMT6_%7C_B1AMT7_%7C_B1AMT8_%7C_O14968_%7C_Q86V27_%7C_Q99876_%7C_Q9BR78|Q14114|ammon_%20_gyrus_%20_development_%20_(GO:0021541)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cellular_%20_response_%20_to_%20_cholesterol_%20_(GO:0071397)_%7C_cellular_%20_response_%20_to_%20_growth_%20_factor_%20_stimulus_%20_(GO:0071363)_%7C_cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_endocytosis_%20_(GO:0006897)_%7C_layer_%20_formation_%20_in_%20_cerebral_%20_cortex_%20_(GO:0021819)_%7C_lipid_%20_metabolic_%20_process_%20_(GO:0006629)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_positive_%20_regulation_%20_of_%20_CREB_%20_transcription_%20_factor_%20_activity_%20_(GO:0032793)_%7C_positive_%20_regulation_%20_of_%20_dendrite_%20_development_%20_(GO:1900006)_%7C_positive_%20_regulation_%20_of_%20_dendritic_%20_spine_%20_morphogenesis_%20_(GO:0061003)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050731)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_tyrosine_%20_kinase_%20_activity_%20_(GO:0061098)_%7C_proteolysis_%20_(GO:0006508)_%7C_receptor-mediated_%20_endocytosis_%20_(GO:0006898)_%7C_reelin-mediated_%20_signaling_%20_pathway_%20_(GO:0038026)_%7C_regulation_%20_of_%20_synaptic_%20_transmission_%20_(GO:0050804)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_signal_%20_transduction_%20_(GO:0007165)|caveola_%20_(GO:0005901)_%7C_dendrite_%20_(GO:0030425)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_microtubule_%20_associated_%20_complex_%20_(GO:0005875)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_receptor_%20_complex_%20_(GO:0043235)|apolipoprotein_%20_binding_%20_(GO:0034185)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_high-density_%20_lipoprotein_%20_particle_%20_binding_%20_(GO:0008035)_%7C_reelin_%20_receptor_%20_activity_%20_(GO:0038025)_%7C_transmembrane_%20_signaling_%20_receptor_%20_activity_%20_(GO:0004888)_%7C_very-low-density_%20_lipoprotein_%20_particle_%20_receptor_%20_activity_%20_(GO:0030229)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 54354613 variant.3577 G A . PASS FUNCOTATION=[YIPF1|hg19|chr1|54354613|54354613|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:54354613G>A|ENST00000072644.1|-|3|||||0.38403990024937656|GCTGCCATTCGGCCAGTGAGT|YIPF1_ENST00000371399.1_INTRON/YIPF1_ENST00000539954.1_NONSENSE_p.R25*/YIPF1_ENST00000469457.1_INTRON/DIO1_ENST00000534069.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471059|NM_018982.4|NP_061855.1|HGNC:25231|Yip1_%20_domain_%20_family_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Yip1_%20_domain_%20_family_%2C__%20_member_%20_1"|DJ167A19.1_%2C__%20_FinGER1||1p32.3|2016-10-05||2015-11-11|BC009674||54432|ENSG00000058799|12477932|NM_018982|105|Yip1_%20_domain_%20_containing|CCDS584|OTTHUMG00000008074|54432|617521|NM_018982|Q9Y548|ENSG00000058799|uc001cvu.4|YIPF1_HUMAN||B2RCM7_%7C_D3DQ40_%7C_Q9NWJ1|Q9Y548||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_transport_%20_vesicle_%20_(GO:0030133)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 54354658 exm60875 T G . PASS FUNCOTATION=[YIPF1|hg19|chr1|54354658|54354658|FIVE_PRIME_UTR||SNP|T|T|G|g.chr1:54354658T>G|ENST00000072644.1|-|3|||||0.36658354114713215|ATTTGCAGGGTTCTAAAAGAA|YIPF1_ENST00000371399.1_INTRON/YIPF1_ENST00000539954.1_SPLICE_SITE_p.T10P/YIPF1_ENST00000469457.1_SPLICE_SITE/DIO1_ENST00000534069.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471059|NM_018982.4|NP_061855.1|HGNC:25231|Yip1_%20_domain_%20_family_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Yip1_%20_domain_%20_family_%2C__%20_member_%20_1"|DJ167A19.1_%2C__%20_FinGER1||1p32.3|2016-10-05||2015-11-11|BC009674||54432|ENSG00000058799|12477932|NM_018982|105|Yip1_%20_domain_%20_containing|CCDS584|OTTHUMG00000008074|54432|617521|NM_018982|Q9Y548|ENSG00000058799|uc001cvu.4|YIPF1_HUMAN||B2RCM7_%7C_D3DQ40_%7C_Q9NWJ1|Q9Y548||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_transport_%20_vesicle_%20_(GO:0030133)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 54354658 rs2294508 T G . PASS FUNCOTATION=[YIPF1|hg19|chr1|54354658|54354658|FIVE_PRIME_UTR||SNP|T|T|G|g.chr1:54354658T>G|ENST00000072644.1|-|3|||||0.36658354114713215|ATTTGCAGGGTTCTAAAAGAA|YIPF1_ENST00000371399.1_INTRON/YIPF1_ENST00000539954.1_SPLICE_SITE_p.T10P/YIPF1_ENST00000469457.1_SPLICE_SITE/DIO1_ENST00000534069.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471059|NM_018982.4|NP_061855.1|HGNC:25231|Yip1_%20_domain_%20_family_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Yip1_%20_domain_%20_family_%2C__%20_member_%20_1"|DJ167A19.1_%2C__%20_FinGER1||1p32.3|2016-10-05||2015-11-11|BC009674||54432|ENSG00000058799|12477932|NM_018982|105|Yip1_%20_domain_%20_containing|CCDS584|OTTHUMG00000008074|54432|617521|NM_018982|Q9Y548|ENSG00000058799|uc001cvu.4|YIPF1_HUMAN||B2RCM7_%7C_D3DQ40_%7C_Q9NWJ1|Q9Y548||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_transport_%20_vesicle_%20_(GO:0030133)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 54433403 indel.3593 TC T . PASS FUNCOTATION=[LRRC42|hg19|chr1|54433404|54433404|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:54433404delC|ENST00000371370.3|+|9|1599|c.1079delC|c.(1078-1080)tccfs|p.E361fs|0.46384039900249374|ATGAACTCTTCCGAGAAACTC|LRRC42_ENST00000319223.4_FRAME_SHIFT_DEL_p.E361fs/LRRC42_ENST00000477905.1_SPLICE_SITE|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471059|NM_001256409.1|NP_001243338.1|HGNC:28792|leucine_%20_rich_%20_repeat_%20_containing_%20_42|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC8974||1p32.3|2016-10-05|||AK075201||115353|ENSG00000116212|12477932|NM_052940|||CCDS585|OTTHUMG00000008436|115353||NM_001256409|Q9Y546|ENSG00000116212|uc001cwk.3|LRC42_HUMAN||D3DQ46_%7C_Q8N2Q8|Q9Y546|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 54637167 rs625643 T C . PASS FUNCOTATION=[AL357673.1|hg19|chr1|54637167|54637167|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:54637167T>C|ENST00000536061.1|-|1|||||0.5461346633416458|GAAGTGACGTTGGTAAACATG|RP11-446E24.4_ENST00000311841.7_INTRON/RP11-446E24.4_ENST00000525949.1_INTRON|||||||||||||||||||||||||||||||||CH471059||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 55134545 indel.3666 CT C . PASS FUNCOTATION=[MROH7|hg19|chr1|55134546|55134546|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:55134546delT|ENST00000421030.2|+|5|1609|c.1325delT|c.(1324-1326)cttfs|p.Q443fs|0.5586034912718204|GTCACCACCCTTCAGAAGAGC|MROH7_ENST00000395690.2_FRAME_SHIFT_DEL_p.Q443fs/MROH7_ENST00000409996.1_FRAME_SHIFT_DEL_p.Q11fs/MROH7_ENST00000339553.5_FRAME_SHIFT_DEL_p.Q443fs/MROH7_ENST00000545244.1_FRAME_SHIFT_DEL_p.Q11fs/MROH7_ENST00000454855.2_FIVE_PRIME_UTR/MROH7-TTC4_ENST00000414150.2_FRAME_SHIFT_DEL_p.Q443fs|||||||||||||||||||||||||||||||||CR749830|NM_001039464.2|NP_001034553.2|HGNC:24802|maestro_%20_heat_%20_like_%20_repeat_%20_family_%20_member_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf175_%2C__%20_HEATR8|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_175"_%2C__%20_"HEAT_%20_repeat_%20_containing_%20_8"_%2C__%20_"maestro_%20_heat-like_%20_repeat_%20_family_%20_member_%20_7"|FLJ46354||1p32.3|2016-01-22|2012-12-19|2016-01-22|AL832492||374977|ENSG00000184313|12477932|NM_198547|636|Maestro_%20_heat_%20_like_%20_repeat_%20_containing_%20_|CCDS41342|OTTHUMG00000009890|374977||NM_001039464|Q68CQ1|ENSG00000184313|uc010ooe.2|MROH7_HUMAN||A0AUX8_%7C_Q5TA99_%7C_Q6ZP40_%7C_Q6ZRH6_%7C_Q8N311_%7C_Q8NA14|Q68CQ1||extracellular_%20_space_%20_(GO:0005615)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false||false|false|||false|false|false|MROH7:374977_%7C_MROH7-TTC4:100527960|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|772326202|55134546|false|false|0|false|0|false|0.999931_%2C_6.8686e-005|false|false|true|DIV|true|0x050000401205040402000200|1|false|144|rs772326202|] +1 55207184 var_1_55207184 T TAG . PASS FUNCOTATION=[TTC4|hg19|chr1|55207184|55207185|FRAME_SHIFT_INS||INS|-|-|AG|g.chr1:55207184_55207185insAG|ENST00000371281.3|+|10|1249|c.1162_1163insAG|c.(1162-1164)tgafs|p.L389fs|0.51|CAGATACGATGACTAAGCCA|TTC4_ENST00000371284.5_INTRON/MROH7-TTC4_ENST00000414150.2_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_004623.4|NP_004614.3|HGNC:12394|tetratricopeptide_%20_repeat_%20_domain_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC5097_%2C__%20_FLJ41930_%2C__%20_CNS1||1p32.3|2017-05-19|||||7268|ENSG00000243725|9933562|NM_004623|769|Tetratricopeptide_%20_repeat_%20_domain_%20_containing|CCDS596|OTTHUMG00000009914|7268|606753|NM_001291333|O95801|ENSG00000243725|uc001cxx.5|TTC4_HUMAN||Q53Y95_%7C_Q5TA96_%7C_Q9H3I2|O95801|||||||true|false||false|false|||false|false|false|TTC4:7268_%7C_MROH7-TTC4:100527960|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|775455587|55207184|false|false|0|false|0|true||false|false|false|DIV|true|0x050000000305040402000200|1|false|144|rs775455587|] +1 55273582 indel.3699 CT C . PASS FUNCOTATION=[C1orf177|hg19|chr1|55273583|55273583|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:55273583delT|ENST00000371273.3|+|4|393|c.379delT|c.(379-381)tccfs|p.S127fs|0.543640897755611|GGGCCCCGGCTCCTACAACCT|C1orf177_ENST00000358193.3_FRAME_SHIFT_DEL_p.S127fs|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC064142|NM_001110533.1|NP_001104003.1||||||||||||||||||||||||||||||CA177_HUMAN||B7WPL2_%7C_Q8N7Y9|Q3ZCV2|||||||true|false||false|false|||false|false|false|LEXM:163747|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|761239382|55273583|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040002000200|1|false|144|rs761239382|] +1 55307523 indel.3707 TA T . PASS FUNCOTATION=[C1orf177|hg19|chr1|55307524|55307524|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:55307524delA|ENST00000371273.3|+|10|1249|c.1235delA|c.(1234-1236)tacfs|p.Y412fs|0.4937655860349127|ACTGTGGATTACAATTCAGAT|C1orf177_ENST00000358193.3_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC064142|NM_001110533.1|NP_001104003.1||||||||||||||||||||||||||||||CA177_HUMAN||B7WPL2_%7C_Q8N7Y9|Q3ZCV2|||||||true|false||false|false|||false|false|false|LEXM:163747|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|777519771|55307524|false|false|0|false|0|false||false|true|false|DIV|false|0x050000801205000402000200|1|false|144|rs777519771|] +1 57258130 indel.3786 TG T . PASS FUNCOTATION=[C1orf168|hg19|chr1|57258131|57258131|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:57258131delG|ENST00000343433.6|-|2|437|c.355delC|c.(355-357)caafs|p.Q119fs|0.456359102244389|ACATTTGATTGAGTCACCTCT|C1orf168_ENST00000484327.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BX648439|NM_001004303.4|NP_001004303.3||||||||||||||||||||||||||||||CA168_HUMAN||Q63HM3_%7C_Q6ZUY6|Q5VWT5|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 57351822 indel.3791 GC G . PASS FUNCOTATION=[C8A|hg19|chr1|57351823|57351823|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:57351823delC|ENST00000361249.3|+|7|1174|c.1079delC|c.(1078-1080)gcafs|p.A360fs|0.40648379052369077|ATTGACAAAGCAAAAATGGAA||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||U08006|NM_000562.2|NP_000553.1|HGNC:1352|complement_%20_C8_%20_alpha_%20_chain|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"complement_%20_component_%20_8_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"complement_%20_component_%20_8_%20_alpha_%20_subunit"|||1p32.2|2017-03-24||2016-08-10|M16974||731|ENSG00000157131||NM_000562|492|Complement_%20_system|CCDS606|OTTHUMG00000008306|731|120950|NM_000562|P07357|ENSG00000157131|uc001cyo.3|CO8A_HUMAN||A2RUI4_%7C_A2RUI5_%7C_Q13668_%7C_Q9H130|P07357|complement_%20_activation_%20_(GO:0006956)_%7C_complement_%20_activation_%2C__%20_alternative_%20_pathway_%20_(GO:0006957)_%7C_complement_%20_activation_%2C__%20_classical_%20_pathway_%20_(GO:0006958)_%7C_cytolysis_%20_(GO:0019835)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_regulation_%20_of_%20_complement_%20_activation_%20_(GO:0030449)|blood_%20_microparticle_%20_(GO:0072562)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_membrane_%20_attack_%20_complex_%20_(GO:0005579)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 60228226 indel.3843 GGAGT G . PASS FUNCOTATION=[FGGY|hg19|chr1|60228227|60228230|FRAME_SHIFT_DEL||DEL|GAGT|GAGT|-|g.chr1:60228227_60228230delGAGT|ENST00000371218.4|+|17|1882_1885|c.1699_1702delGAGT|c.(1699-1704)gagtatfs|p.E567fs|0.3886138613861386|ACACCAGAAGGAGTATTTGGCGAT|FGGY_ENST00000371212.1_FRAME_SHIFT_DEL_p.E455fs/FGGY_ENST00000303721.7_FRAME_SHIFT_DEL_p.E543fs/FGGY_ENST00000371210.1_FRAME_SHIFT_DEL_p.E244fs/RP4-782L23.2_ENST00000443012.1_RNA|||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(1)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471059|NM_001113411.1|NP_001106882.1|HGNC:25610|FGGY_%20_carbohydrate_%20_kinase_%20_domain_%20_containing|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10986||1p32.1|2015-09-11|||||55277|ENSG00000172456|17671248|NM_001113411|||CCDS611_%2C__%20_CCDS44155_%2C__%20_CCDS58003_%2C__%20_CCDS60155|OTTHUMG00000008424|55277|611370|NM_001113411|Q96C11|ENSG00000172456|uc001czi.6|FGGY_HUMAN||B1AK92_%7C_B1AK93_%7C_B1AK94_%7C_B2RDR8_%7C_D3DQ56_%7C_Q9HA63_%7C_Q9NV20|Q96C11|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cell_%20_death_%20_(GO:0008219)_%7C_neuron_%20_cellular_%20_homeostasis_%20_(GO:0070050)||kinase_%20_activity_%20_(GO:0016301)_%7C_phosphotransferase_%20_activity_%2C__%20_alcohol_%20_group_%20_as_%20_acceptor_%20_(GO:0016773)||||true|false||false|false|||false|false|false|FGGY:55277|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|747593219|60228227|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs747593219|] +1 60228254 exm1845312 T C . PASS FUNCOTATION=[FGGY|hg19|chr1|60228254|60228254|NONSTOP||SNP|T|T|C|g.chr1:60228254T>C|ENST00000371218.4|+|17|1910|c.1726T>C|c.(1726-1728)Tga>Cga|p.*576R|0.3765586034912718|GAATGATGACTGAACAGGGCT|FGGY_ENST00000371212.1_NONSTOP_p.*464R/FGGY_ENST00000303721.7_NONSTOP_p.*552R/FGGY_ENST00000371210.1_NONSTOP_p.*253R/RP4-782L23.2_ENST00000443012.1_RNA|||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(1)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471059|NM_001113411.1|NP_001106882.1|HGNC:25610|FGGY_%20_carbohydrate_%20_kinase_%20_domain_%20_containing|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10986||1p32.1|2015-09-11|||||55277|ENSG00000172456|17671248|NM_001113411|||CCDS611_%2C__%20_CCDS44155_%2C__%20_CCDS58003_%2C__%20_CCDS60155|OTTHUMG00000008424|55277|611370|NM_001113411|Q96C11|ENSG00000172456|uc001czi.6|FGGY_HUMAN||B1AK92_%7C_B1AK93_%7C_B1AK94_%7C_B2RDR8_%7C_D3DQ56_%7C_Q9HA63_%7C_Q9NV20|Q96C11|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cell_%20_death_%20_(GO:0008219)_%7C_neuron_%20_cellular_%20_homeostasis_%20_(GO:0070050)||kinase_%20_activity_%20_(GO:0016301)_%7C_phosphotransferase_%20_activity_%2C__%20_alcohol_%20_group_%20_as_%20_acceptor_%20_(GO:0016773)||||true|false|0.9996_%2C_0.0003994_%2C_.|false|false|0||false|false|false|FGGY:55277|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201875327|60228254|false|false|0|false|0|false|0.999897_%2C_._%2C_0.000103029|false|false|false|SNV|true|0x050000000205040436000100|1|false|137|rs201875327|] +1 60359359 indel.3849 TG T . PASS FUNCOTATION=[CYP2J2|hg19|chr1|60359360|60359360|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:60359360delG|ENST00000371204.3|-|9|1517|c.1472delC|c.(1471-1473)ccafs|p.P491fs|0.4513715710723192|GTGACTGACTGGGGAAATGGT|CYP2J2_ENST00000492633.1_INTRON|||||||||||||||||||||||||93|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||U37143|NM_000775.2|NP_000766.2|HGNC:2634|cytochrome_%20_P450_%20_family_%20_2_%20_subfamily_%20_J_%20_member_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"cytochrome_%20_P450_%2C__%20_subfamily_%20_IIJ_%20_(arachidonic_%20_acid_%20_epoxygenase)_%20_polypeptide_%20_2"_%2C__%20_"cytochrome_%20_P450_%2C__%20_family_%20_2_%2C__%20_subfamily_%20_J_%2C__%20_polypeptide_%20_2"|||1p32.1|2016-10-05||2015-12-09|BC032594||1573|ENSG00000134716|9570962|NM_000775|1001|Cytochrome_%20_P450_%20_family_%20_2|CCDS613|OTTHUMG00000008991|1573|601258|NM_000775|P51589|ENSG00000134716|uc001czq.4|CP2J2_HUMAN|Apixaban(DB06605)_%7C_Astemizole(DB00637)_%7C_Cholecalciferol(DB00169)_%7C_Levomilnacipran(DB08918)_%7C_Masoprocol(DB00179)_%7C_Rivaroxaban(DB06228)|B2RD33_%7C_Q8TF13|P51589|arachidonic_%20_acid_%20_metabolic_%20_process_%20_(GO:0019369)_%7C_epoxygenase_%20_P450_%20_pathway_%20_(GO:0019373)_%7C_icosanoid_%20_metabolic_%20_process_%20_(GO:0006690)_%7C_linoleic_%20_acid_%20_metabolic_%20_process_%20_(GO:0043651)_%7C_regulation_%20_of_%20_heart_%20_contraction_%20_(GO:0008016)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)|arachidonic_%20_acid_%20_11_%2C_12-epoxygenase_%20_activity_%20_(GO:0008405)_%7C_arachidonic_%20_acid_%20_14_%2C_15-epoxygenase_%20_activity_%20_(GO:0008404)_%7C_arachidonic_%20_acid_%20_epoxygenase_%20_activity_%20_(GO:0008392)_%7C_aromatase_%20_activity_%20_(GO:0070330)_%7C_heme_%20_binding_%20_(GO:0020037)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)_%7C_linoleic_%20_acid_%20_epoxygenase_%20_activity_%20_(GO:0071614)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 60491129 indel.3860 CA C . PASS FUNCOTATION=[C1orf87|hg19|chr1|60491130|60491130|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:60491130delA|ENST00000371201.3|-|8|1179|c.1070delT|c.(1069-1071)ctgfs|p.L357fs|0.3341645885286783|CAGCAGGCTCAGGGTCAGATA|C1orf87_ENST00000450089.2_FRAME_SHIFT_DEL_p.L128fs|NSCLC(75_%3B_811_%20_1386_%20_4923_%20_13371_%20_51772)||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||BC042203|NM_152377.2|NP_689590.1|HGNC:28547|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_87|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC34837_%2C__%20_CREF|"carcinoma-related_%20_EF-hand_%20_protein"|1p32.1|2016-09-30|||AK124828||127795|ENSG00000162598|25048349|NM_152377|||CCDS614|OTTHUMG00000008992|127795||NM_152377|Q8N0U7|ENSG00000162598|uc001czs.3|CA087_HUMAN||Q6ZU07_%7C_Q8IVS0|Q8N0U7|||calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 60503684 indel.3864 AC A . PASS FUNCOTATION=[C1orf87|hg19|chr1|60503685|60503685|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:60503685delC|ENST00000371201.3|-|6|951|c.842delG|c.(841-843)agtfs|p.S281fs|0.3790523690773067|AGTGCCATGACTCTCAGTTTT|C1orf87_ENST00000450089.2_INTRON|NSCLC(75_%3B_811_%20_1386_%20_4923_%20_13371_%20_51772)||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||BC042203|NM_152377.2|NP_689590.1|HGNC:28547|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_87|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC34837_%2C__%20_CREF|"carcinoma-related_%20_EF-hand_%20_protein"|1p32.1|2016-09-30|||AK124828||127795|ENSG00000162598|25048349|NM_152377|||CCDS614|OTTHUMG00000008992|127795||NM_152377|Q8N0U7|ENSG00000162598|uc001czs.3|CA087_HUMAN||Q6ZU07_%7C_Q8IVS0|Q8N0U7|||calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 62235087 indel.3867 GC G . PASS FUNCOTATION=[INADL|hg19|chr1|62235088|62235088|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:62235088delC|ENST00000371158.2|+|5|631|c.518delC|c.(517-519)gcafs|p.A173fs|0.38902743142144636|GGGAGTGTAGCAGACAGGTGA|INADL_ENST00000316485.6_FRAME_SHIFT_DEL_p.A173fs|||||||||||||||||||||||||201|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(99)_%7C_pancreas(22)_%7C_soft_tissue(12)|||||||BC021135|NM_176877.2|NP_795352.2||||||||||||||||||||||||||||||INADL_HUMAN||O15249_%7C_O43742_%7C_O60833_%7C_Q5VUA5_%7C_Q5VUA6_%7C_Q5VUA7_%7C_Q5VUA8_%7C_Q5VUA9_%7C_Q5VUB0_%7C_Q8WU78_%7C_Q9H3N9|Q8NI35|cell_%20_junction_%20_assembly_%20_(GO:0034329)_%7C_cell-cell_%20_junction_%20_organization_%20_(GO:0045216)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_tight_%20_junction_%20_assembly_%20_(GO:0070830)|apical_%20_part_%20_of_%20_cell_%20_(GO:0045177)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 62586957 indel.3890 GA G . PASS FUNCOTATION=[INADL|hg19|chr1|62586958|62586958|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:62586958delA|ENST00000371158.2|+|38|5109|c.4996delA|c.(4996-4998)aaafs|p.N1667fs|0.42643391521197005|TCCTTCCCAGAAAAATTCAGG|INADL_ENST00000472512.1_INTRON|||||||||||||||||||||||||201|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(99)_%7C_pancreas(22)_%7C_soft_tissue(12)|||||||BC021135|NM_176877.2|NP_795352.2||||||||||||||||||||||||||||||INADL_HUMAN||O15249_%7C_O43742_%7C_O60833_%7C_Q5VUA5_%7C_Q5VUA6_%7C_Q5VUA7_%7C_Q5VUA8_%7C_Q5VUA9_%7C_Q5VUB0_%7C_Q8WU78_%7C_Q9H3N9|Q8NI35|cell_%20_junction_%20_assembly_%20_(GO:0034329)_%7C_cell-cell_%20_junction_%20_organization_%20_(GO:0045216)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_tight_%20_junction_%20_assembly_%20_(GO:0070830)|apical_%20_part_%20_of_%20_cell_%20_(GO:0045177)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_tight_%20_junction_%20_(GO:0005923)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 62672471 indel.3900 CT C . PASS FUNCOTATION=[L1TD1|hg19|chr1|62672472|62672472|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:62672472delT|ENST00000498273.1|+|3|466|c.172delT|c.(172-174)ttafs|p.L58fs|0.3516209476309227|GTTTAAGGTCTTAATGGAAAT|Y_RNA_ENST00000363304.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC111559|NM_019079.4|NP_061952.3|HGNC:25595|LINE1_%20_type_%20_transposase_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10884_%2C__%20_ECAT11||1p31.3|2016-06-13||2016-06-13|BC060808||54596|ENSG00000240563|12477932|NM_019079|||CCDS619|OTTHUMG00000008914|54596||NM_001164835|Q5T7N2|ENSG00000240563|uc001dae.6|LITD1_HUMAN||Q8NDA1_%7C_Q9NUV8_%7C_Q9NV78|Q5T7N2|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 63282434 indel.3957 CA C . PASS FUNCOTATION=[ATG4C|hg19|chr1|63282435|63282435|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:63282435delA|ENST00000317868.4|+|4|556|c.350delA|c.(349-351)cagfs|p.Q117fs|0.371571072319202|AGAACTGGCCAGATGCTCTTG|ATG4C_ENST00000371120.3_FRAME_SHIFT_DEL_p.Q117fs|||||||||||||||||||||||ATG4C{ENST00000371120}:r.1_1368_FBXO38{ENST00000340253}:r.1433_4424(2)||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_032852.3|NP_116241.2|HGNC:16040|autophagy_%20_related_%20_4C_%20_cysteine_%20_peptidase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AUTL1_%2C__%20_APG4C|"AUT_%20_(S._%20_cerevisiae)-like_%20_1_%2C__%20_cysteine_%20_endopeptidase_%3B__%20_AUT-like_%20_1_%2C__%20_cysteine_%20_endopeptidase_%20_(S._%20_cerevisiae)"_%2C__%20_"APG4_%20_autophagy_%20_4_%20_homolog_%20_C_%20_(S._%20_cerevisiae)"_%2C__%20_"ATG4_%20_autophagy_%20_related_%20_4_%20_homolog_%20_C_%20_(S._%20_cerevisiae)"_%2C__%20_"autophagy_%20_related_%20_4C_%2C__%20_cysteine_%20_peptidase"|FLJ14867_%2C__%20_AUTL3||1p31.3|2016-02-23|2005-09-11|2016-02-23|AK027773||84938|ENSG00000125703|12446702|NM_032852|1022|Autophagy_%20_related|CCDS623|OTTHUMG00000009142|84938|611339|NM_032852|Q96DT6|ENSG00000125703|uc001dat.5|ATG4C_HUMAN||A6NLR8_%7C_D3DQ58_%7C_Q96K04|Q96DT6|autophagic_%20_vacuole_%20_assembly_%20_(GO:0000045)_%7C_autophagy_%20_(GO:0006914)_%7C_protein_%20_targeting_%20_to_%20_membrane_%20_(GO:0006612)_%7C_proteolysis_%20_(GO:0006508)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|cysteine-type_%20_endopeptidase_%20_activity_%20_(GO:0004197)_%7C_peptidase_%20_activity_%20_(GO:0008233)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 63300482 indel.3964 CA C . PASS FUNCOTATION=[ATG4C|hg19|chr1|63300483|63300483|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:63300483delA|ENST00000317868.4|+|9|1255|c.1049delA|c.(1048-1050)caafs|p.Q350fs|0.3341645885286783|CATTACTGCCAATCTTTTGTA|ATG4C_ENST00000371120.3_FRAME_SHIFT_DEL_p.Q350fs|||||||||||||||||||||||ATG4C{ENST00000371120}:r.1_1368_FBXO38{ENST00000340253}:r.1433_4424(2)||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_032852.3|NP_116241.2|HGNC:16040|autophagy_%20_related_%20_4C_%20_cysteine_%20_peptidase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AUTL1_%2C__%20_APG4C|"AUT_%20_(S._%20_cerevisiae)-like_%20_1_%2C__%20_cysteine_%20_endopeptidase_%3B__%20_AUT-like_%20_1_%2C__%20_cysteine_%20_endopeptidase_%20_(S._%20_cerevisiae)"_%2C__%20_"APG4_%20_autophagy_%20_4_%20_homolog_%20_C_%20_(S._%20_cerevisiae)"_%2C__%20_"ATG4_%20_autophagy_%20_related_%20_4_%20_homolog_%20_C_%20_(S._%20_cerevisiae)"_%2C__%20_"autophagy_%20_related_%20_4C_%2C__%20_cysteine_%20_peptidase"|FLJ14867_%2C__%20_AUTL3||1p31.3|2016-02-23|2005-09-11|2016-02-23|AK027773||84938|ENSG00000125703|12446702|NM_032852|1022|Autophagy_%20_related|CCDS623|OTTHUMG00000009142|84938|611339|NM_032852|Q96DT6|ENSG00000125703|uc001dat.5|ATG4C_HUMAN||A6NLR8_%7C_D3DQ58_%7C_Q96K04|Q96DT6|autophagic_%20_vacuole_%20_assembly_%20_(GO:0000045)_%7C_autophagy_%20_(GO:0006914)_%7C_protein_%20_targeting_%20_to_%20_membrane_%20_(GO:0006612)_%7C_proteolysis_%20_(GO:0006508)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|cysteine-type_%20_endopeptidase_%20_activity_%20_(GO:0004197)_%7C_peptidase_%20_activity_%20_(GO:0008233)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 63902553 indel.3980 TCC T . PASS FUNCOTATION=[ALG6|hg19|chr1|63902554|63902555|FRAME_SHIFT_DEL||DEL|CC|CC|-|g.chr1:63902554_63902555delCC|ENST00000263440.4|+|14|1600_1601|c.1393_1394delCC|c.(1393-1395)cctfs|p.P465fs|0.35572139303482586|ACTGGATCCTCCTCAGAAACTA|ALG6_ENST00000371108.4_FRAME_SHIFT_DEL_p.P463fs/ALG6_ENST00000494765.1_INTRON|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||AL592218|||HGNC:23157|ALG6_%2C__%20_alpha-1_%2C_3-glucosyltransferase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"asparagine-linked_%20_glycosylation_%20_6_%20_homolog_%20_(yeast_%2C__%20_alpha-1_%2C_3-glucosyltransferase)"_%2C__%20_"asparagine-linked_%20_glycosylation_%20_6_%2C__%20_alpha-1_%2C_3-glucosyltransferase_%20_homolog_%20_(S._%20_cerevisiae)"||"dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol_%20_alpha-_%20_1->3-glucosyltransferase"|1p31.3|2014-11-19||2013-03-01|AF063604|2.4.1.267|29929|ENSG00000088035|10359825_%2C__%20_11875054|NM_013339|447|Alpha-1_%2C_3-glucosyltransferases|CCDS30735|OTTHUMG00000009140|29929|604566|NM_013339|Q9Y672|ENSG00000088035|uc021oof.1|ALG6_HUMAN||B3KMU2_%7C_Q5SXR9_%7C_Q9H3I0|Q9Y672|cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_dolichol-linked_%20_oligosaccharide_%20_biosynthetic_%20_process_%20_(GO:0006488)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)_%7C_protein_%20_N-linked_%20_glycosylation_%20_(GO:0006487)_%7C_protein_%20_N-linked_%20_glycosylation_%20_via_%20_asparagine_%20_(GO:0018279)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)|glucosyltransferase_%20_activity_%20_(GO:0046527)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 63999793 indel.3992 CAA C . PASS FUNCOTATION=[EFCAB7|hg19|chr1|63999794|63999795|FRAME_SHIFT_DEL||DEL|AA|AA|-|g.chr1:63999794_63999795delAA|ENST00000371088.4|+|6|956_957|c.711_712delAA|c.(709-714)gcaaccfs|p.T238fs|0.32587064676616917|TACTGTCAGCAACCAGGAAGTT|RN7SL488P_ENST00000585186.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471059|NM_032437.2|NP_115813.2|HGNC:29379|EF-hand_%20_calcium_%20_binding_%20_domain_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA1799_%2C__%20_RP4-534K7.1||1p31.3|2014-11-19|||BC015814||84455|ENSG00000203965|11347906|NM_032437|863|EF-hand_%20_domain_%20_containing|CCDS30737|OTTHUMG00000008983|84455|617632|NM_032437|A8K855|ENSG00000203965|uc001dbf.4|EFCB7_HUMAN||Q658P0_%7C_Q96B95_%7C_Q96JM6|A8K855|||calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 64669794 indel.4009 TATAAG T . PASS FUNCOTATION=[UBE2U|hg19|chr1|64669795|64669799|SPLICE_SITE|FRAME_SHIFT_DEL|DEL|ATAAG|ATAAG|-|g.chr1:64669795_64669799delATAAG|ENST00000371076.3|+|1|305_309|c.62_66delATAAG|c.(61-66)tataagfs|p.Y21fs|0.3654320987654321|GAGAACAATTATAAGGTAAGTACTG||||||||||||||||||||||||||178|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC029895|NM_152489.1|NP_689702.1|HGNC:28559|ubiquitin_%20_conjugating_%20_enzyme_%20_E2_%20_U_%20_(putative)|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ubiquitin-conjugating_%20_enzyme_%20_E2U_%20_(putative)"|MGC35130||1p31.3|2016-03-14||2016-03-14|BC029895||148581|ENSG00000177414|12477932|NM_152489|102|Ubiquitin_%20_conjugating_%20_enzymes_%20_E2|CCDS627|OTTHUMG00000009023|148581||NM_152489|Q5VVX9|ENSG00000177414|uc001dbn.1|UBE2U_HUMAN||Q8N1D4|Q5VVX9|protein_%20_ubiquitination_%20_(GO:0016567)||acid-amino_%20_acid_%20_ligase_%20_activity_%20_(GO:0016881)_%7C_ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 64676467 var_1_64676467 AC A . PASS FUNCOTATION=[UBE2U|hg19|chr1|64676468|64676468|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:64676468delC|ENST00000371076.3|+|4|528|c.285delC|c.(283-285)aacfs|p.P96fs|0.30423940149625933|TTTTGGACAACCCTGAGAAGT|UBE2U_ENST00000464349.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||178|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC029895|NM_152489.1|NP_689702.1|HGNC:28559|ubiquitin_%20_conjugating_%20_enzyme_%20_E2_%20_U_%20_(putative)|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ubiquitin-conjugating_%20_enzyme_%20_E2U_%20_(putative)"|MGC35130||1p31.3|2016-03-14||2016-03-14|BC029895||148581|ENSG00000177414|12477932|NM_152489|102|Ubiquitin_%20_conjugating_%20_enzymes_%20_E2|CCDS627|OTTHUMG00000009023|148581||NM_152489|Q5VVX9|ENSG00000177414|uc001dbn.1|UBE2U_HUMAN||Q8N1D4|Q5VVX9|protein_%20_ubiquitination_%20_(GO:0016567)||acid-amino_%20_acid_%20_ligase_%20_activity_%20_(GO:0016881)_%7C_ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 67288063 indel.4057 G GCT . PASS FUNCOTATION=[WDR78|hg19|chr1|67288063|67288064|FRAME_SHIFT_INS||INS|-|-|CT|g.chr1:67288063_67288064insCT|ENST00000371026.3|-|16|2533|c.2476_2477insAG|c.(2476-2478)actfs|p.T826fs|0.3275|TCCAAAACAGTAGGCATATT|WDR78_ENST00000431318.1_FRAME_SHIFT_INS_p.T539fs/RP11-342H21.2_ENST00000456389.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC032406|NM_024763.4|NP_079039.4|HGNC:26252|WD_%20_repeat_%20_domain_%20_78|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||DIC4_%2C__%20_FLJ23129||1p31.3|2016-10-05|2013-02-19|2013-02-19|BX648840||79819|ENSG00000152763|21953912|NM_024763|362|WD_%20_repeat_%20_domain_%20_containing|CCDS635_%2C__%20_CCDS44157|OTTHUMG00000009165|79819||NM_024763|Q5VTH9|ENSG00000152763|uc001dcx.5|WDR78_HUMAN||A8K9W5_%7C_B5MDT3_%7C_H7BY80_%7C_Q5VTI0_%7C_Q8N5G5_%7C_Q9H5R9_%7C_Q9UF44|Q5VTH9|hematopoietic_%20_progenitor_%20_cell_%20_differentiation_%20_(GO:0002244)||||||true|false||false|false|||false|false|false|WDR78:79819|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|754415129|67288063|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs754415129|] +1 67474834 indel.4082 TAA T . PASS FUNCOTATION=[SLC35D1|hg19|chr1|67474835|67474836|FRAME_SHIFT_DEL||DEL|AA|AA|-|g.chr1:67474835_67474836delAA|ENST00000235345.5|-|11|979_980|c.891_892delTT|c.(889-891)actfs|p.I299fs|0.26616915422885573|ATTCCAATATAAGTTATTAATA|SLC35D1_ENST00000506472.2_FRAME_SHIFT_DEL_p.I220fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||D87449|NM_015139.2|NP_055954.1|HGNC:20800|solute_%20_carrier_%20_family_%20_35_%20_member_%20_D1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_35_%20_(UDP-glucuronic_%20_acid/UDP-N-acetylgalactosamine_%20_dual_%20_transporter)_%2C__%20_member_%20_D1"_%2C__%20_"solute_%20_carrier_%20_family_%20_35_%20_(UDP-GlcA/UDP-GalNAc_%20_transporter)_%2C__%20_member_%20_D1"|UGTREL7_%2C__%20_KIAA0260||1p31.3|2016-02-17||2016-02-17|AB044343||23169|ENSG00000116704|11322953|NM_015139|752|Solute_%20_carriers|CCDS636|OTTHUMG00000009360|23169|610804|NM_015139|Q9NTN3|ENSG00000116704|uc001ddk.3|S35D1_HUMAN||A8K185_%7C_B7Z3X2_%7C_Q52LU5_%7C_Q92548|Q9NTN3|carbohydrate_%20_transport_%20_(GO:0008643)_%7C_cellular_%20_glucuronidation_%20_(GO:0052695)_%7C_chondroitin_%20_sulfate_%20_biosynthetic_%20_process_%20_(GO:0030206)_%7C_embryonic_%20_skeletal_%20_system_%20_development_%20_(GO:0048706)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transmembrane_%20_transport_%20_(GO:0055085)_%7C_UDP-glucuronate_%20_biosynthetic_%20_process_%20_(GO:0006065)_%7C_UDP-glucuronic_%20_acid_%20_transport_%20_(GO:0015787)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|UDP-glucuronic_%20_acid_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005461)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 67773351 rs12142823 C T . PASS FUNCOTATION=[IL12RB2|hg19|chr1|67773351|67773351|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:67773351C>T|ENST00000262345.1|+|1|||||0.6633416458852868|GTGGAAACCACGGGCGCCCGC|IL12RB2_ENST00000371000.1_DE_NOVO_START_OUT_FRAME/IL12RB2_ENST00000541374.1_FIVE_PRIME_FLANK/IL12RB2_ENST00000544434.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U64198|NM_001559.2|NP_001550.1|HGNC:5972|interleukin_%20_12_%20_receptor_%20_subunit_%20_beta_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"interleukin_%20_12_%20_receptor_%2C__%20_beta_%20_2"|||1p31.3|2016-10-05||2015-12-11|U64198||3595|ENSG00000081985|9284929_%2C__%20_8943050|NM_001559|555_%7C_602|Fibronectin_%20_type_%20_III_%20_domain_%20_containing_%7C_Interleukin_%20_receptors|CCDS638_%2C__%20_CCDS58006_%2C__%20_CCDS58007_%2C__%20_CCDS72805|OTTHUMG00000009094|3595|601642|NM_001258214|Q99665|ENSG00000081985|uc001ddu.3|I12R2_HUMAN||B1AN98_%7C_B7ZKL9_%7C_F5H7L6_%7C_Q2M3V3|Q99665|cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007166)_%7C_cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_interferon-gamma_%20_production_%20_(GO:0032609)_%7C_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0018108)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_interferon-gamma_%20_production_%20_(GO:0032729)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|cytokine_%20_receptor_%20_activity_%20_(GO:0004896)||||true|false|0.8325_%2C_._%2C_0.1675|false|false|1||false|true|true|IL12RB2:3595|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|12142823|67773351|false|false|0|true|0|false|0.85727_%2C_6.8686e-005_%2C_0.142661|false|false|true|SNV|true|0x05010042000517053e000100|1|false|120|rs12142823|] +1 68564373 indel.4122 TC T . PASS FUNCOTATION=[WLS|hg19|chr1|68564374|68564374|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:68564374delC|ENST00000354777.2|-|12|1820|c.1573delG|c.(1573-1575)gaafs|p.E525fs|0.3341645885286783|CTGAACAATTCTTGATAAAGT|WLS_ENST00000540432.1_FRAME_SHIFT_DEL_p.E527fs/GNG12-AS1_ENST00000420587.1_RNA/GNG12-AS1_ENST00000413628.1_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||DQ323735|NM_001002292.3|NP_001002292.3|HGNC:30238|wntless_%20_Wnt_%20_ligand_%20_secretion_%20_mediator|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf139_%2C__%20_GPR177|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_139"_%2C__%20_"G_%20_protein-coupled_%20_receptor_%20_177"_%2C__%20_"wntless_%20_homolog_%20_(Drosophila)"|FLJ23091_%2C__%20_MRP_%2C__%20_wls_%2C__%20_EVI_%2C__%20_mig-14|"wntless_%20_homolog"|1p31.3|2016-10-05|2010-03-02|2013-10-03|BX538320||79971|ENSG00000116729|12761501|NM_024911|||CCDS642_%2C__%20_CCDS30750_%2C__%20_CCDS53331|OTTHUMG00000009153|79971|611514|NM_001002292|Q5T9L3|ENSG00000116729|uc001def.3|WLS_HUMAN||B2RNT2_%7C_Q5JRS7_%7C_Q7Z2Z9_%7C_Q8NC43|Q5T9L3|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_mesoderm_%20_formation_%20_(GO:0001707)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055)|cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_early_%20_endosome_%20_membrane_%20_(GO:0031901)_%7C_Golgi_%20_membrane_%20_(GO:0000139)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 68564392 indel.4123 CA C . PASS FUNCOTATION=[WLS|hg19|chr1|68564393|68564393|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:68564393delA|ENST00000354777.2|-|12|1801|c.1554delT|c.(1552-1554)tttfs|p.F518fs|0.33915211970074816|GTTCCGAAACAAACAAAGCAC|WLS_ENST00000540432.1_FRAME_SHIFT_DEL_p.F520fs/GNG12-AS1_ENST00000420587.1_RNA/GNG12-AS1_ENST00000413628.1_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||DQ323735|NM_001002292.3|NP_001002292.3|HGNC:30238|wntless_%20_Wnt_%20_ligand_%20_secretion_%20_mediator|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf139_%2C__%20_GPR177|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_139"_%2C__%20_"G_%20_protein-coupled_%20_receptor_%20_177"_%2C__%20_"wntless_%20_homolog_%20_(Drosophila)"|FLJ23091_%2C__%20_MRP_%2C__%20_wls_%2C__%20_EVI_%2C__%20_mig-14|"wntless_%20_homolog"|1p31.3|2016-10-05|2010-03-02|2013-10-03|BX538320||79971|ENSG00000116729|12761501|NM_024911|||CCDS642_%2C__%20_CCDS30750_%2C__%20_CCDS53331|OTTHUMG00000009153|79971|611514|NM_001002292|Q5T9L3|ENSG00000116729|uc001def.3|WLS_HUMAN||B2RNT2_%7C_Q5JRS7_%7C_Q7Z2Z9_%7C_Q8NC43|Q5T9L3|anterior/posterior_%20_axis_%20_specification_%20_(GO:0009948)_%7C_mesoderm_%20_formation_%20_(GO:0001707)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055)|cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_early_%20_endosome_%20_membrane_%20_(GO:0031901)_%7C_Golgi_%20_membrane_%20_(GO:0000139)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 70820699 indel.4171 GC G . PASS FUNCOTATION=[HHLA3|hg19|chr1|70820700|70820700|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:70820700delC|ENST00000359875.5|+|1|205|c.66delC|c.(64-66)tgcfs|p.C22fs|0.5586034912718204|CAGAGGAATGCAGAATGACGC|HHLA3_ENST00000370940.5_FRAME_SHIFT_DEL_p.C22fs/HHLA3_ENST00000361764.4_FRAME_SHIFT_DEL_p.C22fs/HHLA3_ENST00000531950.1_FRAME_SHIFT_DEL_p.C22fs/HHLA3_ENST00000432224.1_FRAME_SHIFT_DEL_p.C22fs/ANKRD13C_ENST00000262346.6_FIVE_PRIME_FLANK/ANKRD13C_ENST00000370944.4_FIVE_PRIME_FLANK/HHLA3_ENST00000486110.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_001036645.1|NP_001031722.1|HGNC:4906|HERV-H_%20_LTR-associating_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p31.1|2014-11-19|||AF126164||11147|ENSG00000197568|10444326|NM_007071|||CCDS649_%2C__%20_CCDS30752_%2C__%20_CCDS30753|OTTHUMG00000009346|11147|604372|NM_001031693|Q9XRX5|ENSG00000197568|uc001dfb.4|HHLA3_HUMAN||D3DQ74_%7C_Q5VZP2_%7C_Q96FH5_%7C_Q9XRX4|Q9XRX5|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 70904381 indel.4182 AC A . PASS FUNCOTATION=[CTH|hg19|chr1|70904382|70904382|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:70904382delC|ENST00000370938.3|+|11|1207|c.1064delC|c.(1063-1065)actfs|p.T355fs|0.38902743142144636|GCAATCATGACTCATGCATCA|CTH_ENST00000346806.2_FRAME_SHIFT_DEL_p.T311fs/CTH_ENST00000411986.2_FRAME_SHIFT_DEL_p.T323fs|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||S52784|NM_001902.5|NP_001893.2|HGNC:2501|cystathionine_%20_gamma-lyase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"cystathionase_%20_(cystathionine_%20_gamma-lyase)"|||1p31.1|2015-08-24||2014-06-24|BC015807|4.4.1.1|1491|ENSG00000116761|1339280|NM_001902|||CCDS650_%2C__%20_CCDS651_%2C__%20_CCDS53333|OTTHUMG00000009352|1491|607657|NM_001190463|P32929|ENSG00000116761|uc001dfd.4|VSIG2_HUMAN||O95791_%7C_Q9NX42|Q96IQ7||integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_membrane_%20_(GO:0016020)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 71418631 indel.4185 TG T . PASS FUNCOTATION=[PTGER3|hg19|chr1|71418632|71418632|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:71418632delG|ENST00000356595.4|-|4|1427|c.1215delC|c.(1213-1215)agcfs|p.S405fs|0.3740648379052369|ACACATTAATGCTGCTCACGA|PTGER3_ENST00000414819.1_THREE_PRIME_UTR/PTGER3_ENST00000370931.3_INTRON/PTGER3_ENST00000460330.1_INTRON/PTGER3_ENST00000370932.2_INTRON/PTGER3_ENST00000351052.5_INTRON/PTGER3_ENST00000354608.5_INTRON|||||||||||||||||||||||||615|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL158087|NM_198718.1|NP_942011.1|HGNC:9595|prostaglandin_%20_E_%20_receptor_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"prostaglandin_%20_E_%20_receptor_%20_3_%20_(subtype_%20_EP3)"|EP3||1p31.1|2016-10-05||2015-11-16|X83863||5733|ENSG00000050628|7759114_%2C__%20_9073510|NM_000957|207|Prostaglandin_%20_receptors|CCDS652_%2C__%20_CCDS655_%2C__%20_CCDS656_%2C__%20_CCDS657_%2C__%20_CCDS658_%2C__%20_CCDS44160|OTTHUMG00000009399|5733|176806|NM_001126044|P43115|ENSG00000050628|uc001dfo.4|PE2R3_HUMAN|Bimatoprost(DB00905)_%7C_Dinoprostone(DB00917)_%7C_Misoprostol(DB00929)|B0AZN4_%7C_B1AK19_%7C_B5BUP5_%7C_O00326_%7C_Q12943_%7C_Q12944_%7C_Q12945_%7C_Q16546_%7C_Q5CZ59_%7C_Q5CZ61_%7C_Q5CZ62_%7C_Q5CZ63_%7C_Q5CZ64|P43115|cell_%20_death_%20_(GO:0008219)_%7C_G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)_%7C_intracellular_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030522)_%7C_positive_%20_regulation_%20_of_%20_fever_%20_generation_%20_(GO:0031622)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-activated_%20_sequence-specific_%20_DNA_%20_binding_%20_RNA_%20_polymerase_%20_II_%20_transcription_%20_factor_%20_activity_%20_(GO:0004879)_%7C_prostaglandin_%20_E_%20_receptor_%20_activity_%20_(GO:0004957)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 74663709 rs11806946 G A . PASS FUNCOTATION=[LRRIQ3|hg19|chr1|74663709|74663709|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:74663709G>A|ENST00000370911.3|-|1|||||0.5635910224438903|GCCCTTATGAGTTGGAGACAA|LRRIQ3_ENST00000370909.2_FIVE_PRIME_UTR/LRRIQ3_ENST00000354431.4_FIVE_PRIME_UTR/TNNI3K_ENST00000370891.2_FIVE_PRIME_FLANK/FPGT-TNNI3K_ENST00000370893.1_FIVE_PRIME_FLANK/FPGT_ENST00000370894.5_FIVE_PRIME_FLANK/FPGT-TNNI3K_ENST00000370895.1_FIVE_PRIME_FLANK/FPGT_ENST00000370898.3_FIVE_PRIME_FLANK/FPGT-TNNI3K_ENST00000370899.3_FIVE_PRIME_FLANK/FPGT_ENST00000467578.2_FIVE_PRIME_FLANK/FPGT_ENST00000482102.2_FIVE_PRIME_FLANK/FPGT_ENST00000534056.1_FIVE_PRIME_FLANK/FPGT-TNNI3K_ENST00000557284.2_FIVE_PRIME_FLANK/FPGT_ENST00000609362.1_FIVE_PRIME_FLANK/FPGT_ENST00000524915.1_FIVE_PRIME_FLANK/FPGT-TNNI3K_ENST00000533006.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(4)_%7C_pancreas(22)|||||||CH471059|||HGNC:28318|leucine_%20_rich_%20_repeats_%20_and_%20_IQ_%20_motif_%20_containing_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|LRRC44|"leucine_%20_rich_%20_repeat_%20_containing_%20_44"|MGC22773||1p31.1|2016-06-03|2008-06-12|2016-06-03|BX647210||127255|ENSG00000162620|12477932|NM_145258|||CCDS41350|OTTHUMG00000009508|127255||NM_001105659|A6PVS8|ENSG00000162620|uc001dfy.5|LRIQ3_HUMAN||A6PVS9_%7C_Q6P5P7_%7C_Q6ZMV4_%7C_Q8WUE0|A6PVS8|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 74737317 indel.4219 TGGAGC T . PASS FUNCOTATION=[FPGT-TNNI3K|hg19|chr1|74737318|74737322|FRAME_SHIFT_DEL||DEL|GGAGC|GGAGC|-|g.chr1:74737318_74737322delGGAGC|ENST00000370899.3|+|7|709_713|c.673_677delGGAGC|c.(673-678)ggagctfs|p.G225fs|0.3950617283950617|GCTTCACAGTGGAGCTGATATACAG|TNNI3K_ENST00000326637.3_FRAME_SHIFT_DEL_p.G124fs/FPGT-TNNI3K_ENST00000557284.2_FRAME_SHIFT_DEL_p.G238fs/FPGT-TNNI3K_ENST00000370895.1_FRAME_SHIFT_DEL_p.G225fs/TNNI3K_ENST00000370891.2_FRAME_SHIFT_DEL_p.G225fs|||||||||||||||||||||||||||||||||BX470253|NM_001199327.1|NP_001186256.2|HGNC:42952|FPGT-TNNI3K_%20_readthrough|Approved|readthrough|other|||||1p31.1|2016-10-05|||||100526835|ENSG00000259030|||403|Ankyrin_%20_repeat_%20_domain_%20_containing||OTTHUMG00000166281|100526835||NM_001112808||ENSG00000259030|uc001dge.4|||||||||||true|false||false|false|||false|false|false|TNNI3K:51086_%7C_FPGT-TNNI3K:100526835|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|761357894|74737318|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs761357894|] +1 74835230 indel.4234 CAG C . PASS FUNCOTATION=[FPGT-TNNI3K|hg19|chr1|74835231|74835232|FRAME_SHIFT_DEL||DEL|AG|AG|-|g.chr1:74835231_74835232delAG|ENST00000370899.3|+|18|1968_1969|c.1932_1933delAG|c.(1930-1935)tcagggfs|p.G646fs|0.43034825870646765|AATACATATCAGGGGGTTCTCT|TNNI3K_ENST00000326637.3_FRAME_SHIFT_DEL_p.G545fs/FPGT-TNNI3K_ENST00000557284.2_FRAME_SHIFT_DEL_p.G659fs/FPGT-TNNI3K_ENST00000370895.1_FRAME_SHIFT_DEL_p.G646fs/TNNI3K_ENST00000370891.2_FRAME_SHIFT_DEL_p.G646fs/RP11-439H8.4_ENST00000415549.2_RNA|||||||||||||||||||||||||||||||||BX470253|NM_001199327.1|NP_001186256.2|HGNC:42952|FPGT-TNNI3K_%20_readthrough|Approved|readthrough|other|||||1p31.1|2016-10-05|||||100526835|ENSG00000259030|||403|Ankyrin_%20_repeat_%20_domain_%20_containing||OTTHUMG00000166281|100526835||NM_001112808||ENSG00000259030|uc001dge.4|||||||||||true|false||false|false|||false|false|false|TNNI3K:51086_%7C_FPGT-TNNI3K:100526835|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|748927643|74835231|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs748927643|] +1 75036872 indel.4252 CT C . PASS FUNCOTATION=[C1orf173|hg19|chr1|75036873|75036873|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:75036873delT|ENST00000326665.5|-|14|4741|c.4521delA|c.(4519-4521)cgafs|p.E1508fs|0.5336658354114713|GTTGCTTCTCTCGGGTTTCAG|C1orf173_ENST00000433746.2_INTRON|||||||||||||||||||||||||223|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(8)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(124)|||||||CR749349|NM_001002912.4|NP_001002912.4||||||||||||||||||||||||||||||ERIC3_HUMAN||Q68DL8_%7C_Q6GMR8_%7C_Q6ZSF9_%7C_Q8ND41|Q5RHP9|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 75038572 var_1_75038572 TC T . PASS FUNCOTATION=[C1orf173|hg19|chr1|75038573|75038573|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:75038573delC|ENST00000326665.5|-|14|3041|c.2821delG|c.(2821-2823)gatfs|p.D941fs|0.5336658354114713|TCTCCGACATCACTCACAGCC|C1orf173_ENST00000433746.2_INTRON|||||||||||||||||||||||||223|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(8)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(124)|||||||CR749349|NM_001002912.4|NP_001002912.4||||||||||||||||||||||||||||||ERIC3_HUMAN||Q68DL8_%7C_Q6GMR8_%7C_Q6ZSF9_%7C_Q8ND41|Q5RHP9|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 75198740 kgp9120456 A C . PASS FUNCOTATION=[CRYZ|hg19|chr1|75198740|75198740|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:75198740A>C|ENST00000417775.1|-|1|||||0.5311720698254364|TCCACCCAGGATGTGCGCCTC|CRYZ_ENST00000340866.5_FIVE_PRIME_FLANK/TYW3_ENST00000370867.3_FIVE_PRIME_FLANK/CRYZ_ENST00000370871.3_FIVE_PRIME_FLANK/CRYZ_ENST00000370872.3_FIVE_PRIME_FLANK/TYW3_ENST00000421739.2_FIVE_PRIME_FLANK/TYW3_ENST00000457880.2_FIVE_PRIME_FLANK/TYW3_ENST00000479111.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||L31526|NM_001130042.1|NP_001123514.1|HGNC:2419|crystallin_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"crystallin_%2C__%20_zeta_%20_(quinone_%20_reductase)"|||1p31.1|2015-11-12||2015-11-12|||1429|ENSG00000116791|||||CCDS665_%2C__%20_CCDS44162_%2C__%20_CCDS44163|OTTHUMG00000009620|1429|123691|NM_001130042|Q08257|ENSG00000116791|uc001dgk.4|QOR_HUMAN|Dicoumarol(DB00266)|A6NN60_%7C_D3DQ76_%7C_Q53FT0_%7C_Q59EU7_%7C_Q5HYE7_%7C_Q6NSK9|Q08257|protein_%20_homotetramerization_%20_(GO:0051289)_%7C_visual_%20_perception_%20_(GO:0007601)_%7C_xenobiotic_%20_catabolic_%20_process_%20_(GO:0042178)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)|mRNA_%20_3'-UTR_%20_binding_%20_(GO:0003730)_%7C_NADPH_%20_binding_%20_(GO:0070402)_%7C_NADPH:quinone_%20_reductase_%20_activity_%20_(GO:0003960)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 75198788 kgp15455600 C A . PASS FUNCOTATION=[CRYZ|hg19|chr1|75198788|75198788|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:75198788C>A|ENST00000417775.1|-|1|||||0.5336658354114713|CACCCCTAGGCGAAGGCACTA|CRYZ_ENST00000340866.5_FIVE_PRIME_FLANK/TYW3_ENST00000370867.3_FIVE_PRIME_FLANK/CRYZ_ENST00000370871.3_FIVE_PRIME_FLANK/CRYZ_ENST00000370872.3_FIVE_PRIME_FLANK/TYW3_ENST00000421739.2_FIVE_PRIME_FLANK/TYW3_ENST00000457880.2_FIVE_PRIME_FLANK/TYW3_ENST00000479111.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||L31526|NM_001130042.1|NP_001123514.1|HGNC:2419|crystallin_%20_zeta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"crystallin_%2C__%20_zeta_%20_(quinone_%20_reductase)"|||1p31.1|2015-11-12||2015-11-12|||1429|ENSG00000116791|||||CCDS665_%2C__%20_CCDS44162_%2C__%20_CCDS44163|OTTHUMG00000009620|1429|123691|NM_001130042|Q08257|ENSG00000116791|uc001dgk.4|QOR_HUMAN|Dicoumarol(DB00266)|A6NN60_%7C_D3DQ76_%7C_Q53FT0_%7C_Q59EU7_%7C_Q5HYE7_%7C_Q6NSK9|Q08257|protein_%20_homotetramerization_%20_(GO:0051289)_%7C_visual_%20_perception_%20_(GO:0007601)_%7C_xenobiotic_%20_catabolic_%20_process_%20_(GO:0042178)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)|mRNA_%20_3'-UTR_%20_binding_%20_(GO:0003730)_%7C_NADPH_%20_binding_%20_(GO:0070402)_%7C_NADPH:quinone_%20_reductase_%20_activity_%20_(GO:0003960)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 76200513 indel.4306 AG A . PASS FUNCOTATION=[ACADM|hg19|chr1|76200514|76200514|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:76200514delG|ENST00000370834.5|+|7|603|c.525delG|c.(523-525)aagfs|p.K176fs|0.32418952618453867|ATCAACAAAAGAAGAAGTATT|ACADM_ENST00000420607.2_FRAME_SHIFT_DEL_p.K147fs/ACADM_ENST00000370841.4_FRAME_SHIFT_DEL_p.K143fs/ACADM_ENST00000541113.1_FRAME_SHIFT_DEL_p.K107fs/ACADM_ENST00000543667.1_INTRON|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471059|NM_001286043.1|NP_001272973.1|HGNC:89|acyl-CoA_%20_dehydrogenase_%20_medium_%20_chain|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"acyl-Coenzyme_%20_A_%20_dehydrogenase_%2C__%20_C-4_%20_to_%20_C-12_%20_straight_%20_chain"|MCAD_%2C__%20_MCADH_%2C__%20_ACAD1|"medium-chain_%20_acyl-CoA_%20_dehydrogenase"|1p31.1|2017-09-21||2017-09-21|M16827|1.3.8.7|34|ENSG00000117054|3035565||974|Acyl-CoA_%20_dehydrogenase_%20_family|CCDS668_%2C__%20_CCDS44165_%2C__%20_CCDS65562_%2C__%20_CCDS72807|OTTHUMG00000009784|34|607008|NM_000016|P11310|ENSG00000117054|uc001dgw.6|ACADM_HUMAN|Flavin_%20_adenine_%20_dinucleotide(DB03147)|Q5T4U4_%7C_Q9NYF1|P11310|cardiac_%20_muscle_%20_cell_%20_differentiation_%20_(GO:0055007)_%7C_carnitine_%20_biosynthetic_%20_process_%20_(GO:0045329)_%7C_carnitine_%20_metabolic_%20_process_%2C__%20_CoA-linked_%20_(GO:0019254)_%7C_cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_fatty_%20_acid_%20_beta-oxidation_%20_(GO:0006635)_%7C_fatty_%20_acid_%20_beta-oxidation_%20_using_%20_acyl-CoA_%20_dehydrogenase_%20_(GO:0033539)_%7C_glycogen_%20_biosynthetic_%20_process_%20_(GO:0005978)_%7C_liver_%20_development_%20_(GO:0001889)_%7C_medium-chain_%20_fatty_%20_acid_%20_catabolic_%20_process_%20_(GO:0051793)_%7C_medium-chain_%20_fatty_%20_acid_%20_metabolic_%20_process_%20_(GO:0051791)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_post-embryonic_%20_development_%20_(GO:0009791)_%7C_regulation_%20_of_%20_gluconeogenesis_%20_(GO:0006111)_%7C_response_%20_to_%20_cold_%20_(GO:0009409)_%7C_response_%20_to_%20_starvation_%20_(GO:0042594)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|axon_%20_(GO:0030424)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|acyl-CoA_%20_dehydrogenase_%20_activity_%20_(GO:0003995)_%7C_flavin_%20_adenine_%20_dinucleotide_%20_binding_%20_(GO:0050660)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_medium-chain-acyl-CoA_%20_dehydrogenase_%20_activity_%20_(GO:0070991)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 76226844 indel.4318 TG T . PASS FUNCOTATION=[ACADM|hg19|chr1|76226845|76226845|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:76226845delG|ENST00000370834.5|+|12|1161|c.1083delG|c.(1081-1083)atgfs|p.M361fs|0.3940149625935162|AAATGGCAATGAAAGTTGAAC|ACADM_ENST00000420607.2_FRAME_SHIFT_DEL_p.M332fs/ACADM_ENST00000370841.4_FRAME_SHIFT_DEL_p.M328fs/ACADM_ENST00000541113.1_FRAME_SHIFT_DEL_p.M292fs/ACADM_ENST00000543667.1_FRAME_SHIFT_DEL_p.M139fs/ACADM_ENST00000481374.1_INTRON|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471059|NM_001286043.1|NP_001272973.1|HGNC:89|acyl-CoA_%20_dehydrogenase_%20_medium_%20_chain|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"acyl-Coenzyme_%20_A_%20_dehydrogenase_%2C__%20_C-4_%20_to_%20_C-12_%20_straight_%20_chain"|MCAD_%2C__%20_MCADH_%2C__%20_ACAD1|"medium-chain_%20_acyl-CoA_%20_dehydrogenase"|1p31.1|2017-09-21||2017-09-21|M16827|1.3.8.7|34|ENSG00000117054|3035565||974|Acyl-CoA_%20_dehydrogenase_%20_family|CCDS668_%2C__%20_CCDS44165_%2C__%20_CCDS65562_%2C__%20_CCDS72807|OTTHUMG00000009784|34|607008|NM_000016|P11310|ENSG00000117054|uc001dgw.6|ACADM_HUMAN|Flavin_%20_adenine_%20_dinucleotide(DB03147)|Q5T4U4_%7C_Q9NYF1|P11310|cardiac_%20_muscle_%20_cell_%20_differentiation_%20_(GO:0055007)_%7C_carnitine_%20_biosynthetic_%20_process_%20_(GO:0045329)_%7C_carnitine_%20_metabolic_%20_process_%2C__%20_CoA-linked_%20_(GO:0019254)_%7C_cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_fatty_%20_acid_%20_beta-oxidation_%20_(GO:0006635)_%7C_fatty_%20_acid_%20_beta-oxidation_%20_using_%20_acyl-CoA_%20_dehydrogenase_%20_(GO:0033539)_%7C_glycogen_%20_biosynthetic_%20_process_%20_(GO:0005978)_%7C_liver_%20_development_%20_(GO:0001889)_%7C_medium-chain_%20_fatty_%20_acid_%20_catabolic_%20_process_%20_(GO:0051793)_%7C_medium-chain_%20_fatty_%20_acid_%20_metabolic_%20_process_%20_(GO:0051791)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_post-embryonic_%20_development_%20_(GO:0009791)_%7C_regulation_%20_of_%20_gluconeogenesis_%20_(GO:0006111)_%7C_response_%20_to_%20_cold_%20_(GO:0009409)_%7C_response_%20_to_%20_starvation_%20_(GO:0042594)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|axon_%20_(GO:0030424)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|acyl-CoA_%20_dehydrogenase_%20_activity_%20_(GO:0003995)_%7C_flavin_%20_adenine_%20_dinucleotide_%20_binding_%20_(GO:0050660)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_medium-chain-acyl-CoA_%20_dehydrogenase_%20_activity_%20_(GO:0070991)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 76255706 indel.4325 CA C . PASS FUNCOTATION=[RABGGTB|hg19|chr1|76255707|76255707|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:76255707delA|ENST00000319942.3|+|4|450|c.380delA|c.(379-381)cagfs|p.Q127fs|0.3516209476309227|AAAGGTCTACAGAAAGAAGAT|RABGGTB_ENST00000370826.3_FRAME_SHIFT_DEL_p.Q127fs/RABGGTB_ENST00000535300.1_FIVE_PRIME_UTR/RABGGTB_ENST00000496055.1_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||Y08201|NM_004582.3|NP_004573.2|HGNC:9796|Rab_%20_geranylgeranyltransferase_%20_beta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p31.1|2016-10-05||2016-01-20|U49245||5876|ENSG00000137955|8706741_%2C__%20_8954794|NM_004582|||CCDS669|OTTHUMG00000009786|5876|179080|NM_004582|P53611|ENSG00000137955|uc001dgy.3|PGTB2_HUMAN||Q92697|P53611|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)_%7C_protein_%20_geranylgeranylation_%20_(GO:0018344)_%7C_visual_%20_perception_%20_(GO:0007601)|Rab-protein_%20_geranylgeranyltransferase_%20_complex_%20_(GO:0005968)|Rab_%20_geranylgeranyltransferase_%20_activity_%20_(GO:0004663)_%7C_Rab_%20_GTPase_%20_binding_%20_(GO:0017137)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 76260335 exm69323 G C . PASS FUNCOTATION=[RABGGTB|hg19|chr1|76260335|76260335|NONSTOP||SNP|G|G|C|g.chr1:76260335G>C|ENST00000319942.3|+|9|1067|c.996G>C|c.(994-996)taG>taC|p.*332Y|0.286783042394015|TAGTGAGCTAGATTCATTGAA|RABGGTB_ENST00000535300.1_NONSTOP_p.*158Y/MSH4_ENST00000263187.3_FIVE_PRIME_FLANK/RABGGTB_ENST00000496055.1_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||Y08201|NM_004582.3|NP_004573.2|HGNC:9796|Rab_%20_geranylgeranyltransferase_%20_beta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p31.1|2016-10-05||2016-01-20|U49245||5876|ENSG00000137955|8706741_%2C__%20_8954794|NM_004582|||CCDS669|OTTHUMG00000009786|5876|179080|NM_004582|P53611|ENSG00000137955|uc001dgy.3|PGTB2_HUMAN||Q92697|P53611|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)_%7C_protein_%20_geranylgeranylation_%20_(GO:0018344)_%7C_visual_%20_perception_%20_(GO:0007601)|Rab-protein_%20_geranylgeranyltransferase_%20_complex_%20_(GO:0005968)|Rab_%20_geranylgeranyltransferase_%20_activity_%20_(GO:0004663)_%7C_Rab_%20_GTPase_%20_binding_%20_(GO:0017137)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 76349331 indel.4337 AG A . PASS FUNCOTATION=[MSH4|hg19|chr1|76349332|76349332|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:76349332delG|ENST00000263187.3|+|15|2036|c.1933delG|c.(1933-1935)gcafs|p.A645fs|0.30673316708229426|TGATACTTTAGCAATCAAACA||||||||||||||||||||||||||876|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(261)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|"MutS_%20_homologs_%20_specialized_%20_for_%20_meiosis_%20_MSH4_%20_|_%20_MSH5"|1p31.1||||U89293|NM_002440.3|NP_002431.2|HGNC:7327|mutS_%20_homolog_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"mutS_%20_(E._%20_coli)_%20_homolog_%20_4"_%2C__%20_"mutS_%20_homolog_%20_4_%20_(E._%20_coli)"|||1p31.1|2016-10-05||2013-09-12|U89293||4438|ENSG00000057468|9299235|NM_002440|1026|MutS_%20_homologs|CCDS670|OTTHUMG00000009788|4438|602105|NM_002440|O15457|ENSG00000057468|uc001dhd.3|MSH4_HUMAN||Q5T4U6_%7C_Q8NEB3_%7C_Q9UNP8|O15457|ATP_%20_catabolic_%20_process_%20_(GO:0006200)_%7C_chiasma_%20_assembly_%20_(GO:0051026)_%7C_female_%20_gamete_%20_generation_%20_(GO:0007292)_%7C_homologous_%20_chromosome_%20_segregation_%20_(GO:0045143)_%7C_mismatch_%20_repair_%20_(GO:0006298)_%7C_ovarian_%20_follicle_%20_development_%20_(GO:0001541)_%7C_reciprocal_%20_meiotic_%20_recombination_%20_(GO:0007131)_%7C_spermatogenesis_%20_(GO:0007283)|nucleus_%20_(GO:0005634)_%7C_synaptonemal_%20_complex_%20_(GO:0000795)|ATP_%20_binding_%20_(GO:0005524)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_DNA-dependent_%20_ATPase_%20_activity_%20_(GO:0008094)_%7C_mismatched_%20_DNA_%20_binding_%20_(GO:0030983)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 76397779 indel.4348 TA T . PASS FUNCOTATION=[ASB17|hg19|chr1|76397780|76397780|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:76397780delA|ENST00000284142.6|-|1|338|c.197delT|c.(196-198)ctafs|p.L66fs|0.3740648379052369|ATCTGTGAGTAGTGCGTCAAA||||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471059|NM_080868.2|NP_543144.1|HGNC:19769|ankyrin_%20_repeat_%20_and_%20_SOCS_%20_box_%20_containing_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ankyrin_%20_repeat_%20_and_%20_SOCS_%20_box-containing_%20_17"|||1p31.1|2016-10-05||2011-01-25|AF403035||127247|ENSG00000154007|12076535|NM_080868|403|Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS671|OTTHUMG00000009787|127247||NM_080868|Q8WXJ9|ENSG00000154007|uc001dhe.2|ASB17_HUMAN||B1APB8_%7C_Q8N0X5|Q8WXJ9|intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 78207409 exm69937 C T . PASS FUNCOTATION=[USP33|hg19|chr1|78207409|78207409|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:78207409C>T|ENST00000370794.3|-|2|||||0.2743142144638404|TCCTGTTTCCCAAGACTTTCA|USP33_ENST00000370793.1_MISSENSE_p.G23R/USP33_ENST00000370792.3_MISSENSE_p.G23R/USP33_ENST00000357428.1_MISSENSE_p.G23R/USP33_ENST00000528150.1_INTRON|Melanoma(152_%3B_72_%20_1870_%20_11110_%20_26780_%20_42647)||||||||||||||||||||||||617|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(137)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||BC016663|NM_201624.2|NP_963918.1|HGNC:20059|ubiquitin_%20_specific_%20_peptidase_%20_33|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ubiquitin_%20_specific_%20_protease_%20_33"|KIAA1097_%2C__%20_VDU1||1p31.1|2016-10-05||2005-08-08|AF383173||23032|ENSG00000077254|12838346|NM_015017|366|Ubiquitin_%20_specific_%20_peptidases|CCDS678_%2C__%20_CCDS679_%2C__%20_CCDS680|OTTHUMG00000009651|23032|615146|NM_015017|Q8TEY7|ENSG00000077254|uc001dhu.5|UBP33_HUMAN||Q8TEY6_%7C_Q96AV6_%7C_Q9H9F0_%7C_Q9UPQ5|Q8TEY7|axon_%20_guidance_%20_(GO:0007411)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_centrosome_%20_duplication_%20_(GO:0051298)_%7C_endocytosis_%20_(GO:0006897)_%7C_protein_%20_deubiquitination_%20_(GO:0016579)_%7C_protein_%20_K48-linked_%20_deubiquitination_%20_(GO:0071108)_%7C_protein_%20_K63-linked_%20_deubiquitination_%20_(GO:0070536)_%7C_regulation_%20_of_%20_G-protein_%20_coupled_%20_receptor_%20_protein_%20_signaling_%20_pathway_%20_(GO:0008277)_%7C_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0006511)|cell_%20_body_%20_(GO:0044297)_%7C_centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_VCB_%20_complex_%20_(GO:0030891)|cysteine-type_%20_endopeptidase_%20_activity_%20_(GO:0004197)_%7C_G-protein_%20_coupled_%20_receptor_%20_binding_%20_(GO:0001664)_%7C_ubiquitin_%20_thiolesterase_%20_activity_%20_(GO:0004221)_%7C_ubiquitin-specific_%20_protease_%20_activity_%20_(GO:0004843)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 78245342 exm69939 T G . PASS FUNCOTATION=[FAM73A|hg19|chr1|78245342|78245342|START_CODON_SNP||SNP|T|T|G|g.chr1:78245342T>G|ENST00000370791.3|+|1|34|c.2T>G|c.(1-3)aTg>aGg|p.M1R|0.6059850374064838|GCCTTCTCCATGTCAGACTGC|FAM73A_ENST00000443751.2_START_CODON_SNP_p.M1R/RNA5SP21_ENST00000410917.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BX641170|NM_198549.3|NP_940951.1||||||||||||||||||||||||||||||FA73A_HUMAN||Q6MZG0|Q8NAN2||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 78392430 indel.4380 AG A . PASS FUNCOTATION=[NEXN|hg19|chr1|78392431|78392431|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:78392431delG|ENST00000334785.7|+|8|901|c.718delG|c.(718-720)gaafs|p.E240fs|0.33665835411471323|AGCAAAAAAAGAATCACTTTC|NEXN_ENST00000330010.8_FRAME_SHIFT_DEL_p.E176fs/NEXN_ENST00000457030.1_FRAME_SHIFT_DEL_p.E226fs/NEXN_ENST00000480732.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||S67069|NM_144573.3|NP_653174.3|HGNC:29557|nexilin_%20_F-actin_%20_binding_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nexilin_%20_(F_%20_actin_%20_binding_%20_protein)"|nexilin_%2C__%20_NELIN||1p31.1|2017-03-24||2016-03-30|AK057954||91624|ENSG00000162614|12053183_%2C__%20_8227983|NM_144573|593|I-set_%20_domain_%20_containing|CCDS41351_%2C__%20_CCDS53335|OTTHUMG00000040533|91624|613121|NM_001172309|Q0ZGT2|ENSG00000162614|uc001dic.5|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 78546379 indel.4391 CA C . PASS FUNCOTATION=[GIPC2|hg19|chr1|78546380|78546380|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:78546380delA|ENST00000370759.3|+|2|454|c.262delA|c.(262-264)acafs|p.T88fs|0.32418952618453867|CACTTTAAACACACCTAAAAT|GIPC2_ENST00000476882.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC036075|NM_017655.4|NP_060125.4|HGNC:18177|GIPC_%20_PDZ_%20_domain_%20_containing_%20_family_%20_member_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"GIPC_%20_PDZ_%20_domain_%20_containing_%20_family_%2C__%20_member_%20_2"|FLJ20075_%2C__%20_SEMCAP-2|"semaphorin_%20_cytoplasmic_%20_domain_%20_associated_%20_protein_%20_2"|1p31.1|2015-11-18||2015-11-18|AB073737||54810|ENSG00000137960|11836570|NM_017655|1220|PDZ_%20_domain_%20_containing|CCDS685|OTTHUMG00000041145|54810||NM_001304725|Q8TF65|ENSG00000137960|uc001dik.4|GIPC2_HUMAN||Q8IYD3_%7C_Q9NXS7|Q8TF65||cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 82302600 rs12064537 T C . PASS FUNCOTATION=[LPHN2|hg19|chr1|82302600|82302600|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:82302600T>C|ENST00000370728.1|+|5|||||0.341645885286783|GACTGATGGTTTTGATGAAGC|LPHN2_ENST00000370730.1_FIVE_PRIME_UTR/LPHN2_ENST00000370715.1_FIVE_PRIME_UTR/LPHN2_ENST00000319517.6_FIVE_PRIME_UTR/LPHN2_ENST00000370713.1_FIVE_PRIME_UTR/LPHN2_ENST00000370725.1_FIVE_PRIME_UTR/LPHN2_ENST00000370723.1_FIVE_PRIME_UTR/LPHN2_ENST00000370727.1_FIVE_PRIME_UTR/LPHN2_ENST00000370721.1_FIVE_PRIME_UTR/LPHN2_ENST00000359929.3_FIVE_PRIME_UTR/LPHN2_ENST00000370717.2_FIVE_PRIME_UTR/LPHN2_ENST00000394879.1_FIVE_PRIME_UTR/LPHN2_ENST00000271029.4_FIVE_PRIME_UTR/LPHN2_ENST00000335786.5_FIVE_PRIME_UTR/LPHN2_ENST00000469377.2_INTRON|||||||||||||||||||||||||763|biliary_tract(2)_%7C_breast(186)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(157)_%7C_large_intestine(12)_%7C_lung(134)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_skin(82)|||||||DQ925675||||||||||||||||||||||||||||||||LPHN2_HUMAN||A5XEI2_%7C_B1ALT8_%7C_B1ALT9_%7C_B1ALU0_%7C_B1ALU2_%7C_B1ALU4_%7C_B1ALU5_%7C_B1ALU6_%7C_O94882_%7C_Q5VX76_%7C_Q9UKY5_%7C_Q9UKY6|O95490|G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)_%7C_neuropeptide_%20_signaling_%20_pathway_%20_(GO:0007218)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|carbohydrate_%20_binding_%20_(GO:0030246)_%7C_G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_latrotoxin_%20_receptor_%20_activity_%20_(GO:0016524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 84768912 exm70876 C T . PASS FUNCOTATION=[SAMD13|hg19|chr1|84768912|84768912|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:84768912C>T|ENST00000370668.3|+|2|||||0.4139650872817955|ACCCTGCAGCCTTCCCATGCT|SAMD13_ENST00000370669.1_FIVE_PRIME_UTR/SAMD13_ENST00000394834.3_FIVE_PRIME_UTR/SAMD13_ENST00000370670.2_FIVE_PRIME_UTR/SAMD13_ENST00000370673.3_MISSENSE_p.L13F/SAMD13_ENST00000370671.3_MISSENSE_p.L19F|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||DB459148|NM_001134664.1|NP_001128136.1|HGNC:24582|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_13|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p31.1|2015-09-02|||||148418|ENSG00000203943||NM_001010971|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS30760_%2C__%20_CCDS44166|OTTHUMG00000009859|148418||NM_001010971|Q5VXD3|ENSG00000203943|uc001djr.3|SAM13_HUMAN||B3KPW8_%7C_D3DT11_%7C_Q53AI4_%7C_Q5VXD2_%7C_Q5VXD4|Q5VXD3|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 85020683 exm71046 C G . PASS FUNCOTATION=[CTBS|hg19|chr1|85020683|85020683|NONSTOP||SNP|C|C|G|g.chr1:85020683C>G|ENST00000370630.5|-|7|1206|c.1157G>C|c.(1156-1158)tGa>tCa|p.*386S|0.3541147132169576|AAAAGATGTTCATCTCTGTAA|CTBS_ENST00000477677.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M95767|NM_004388.2|NP_004379.1|HGNC:2496|chitobiase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CTB|"chitobiase_%2C__%20_di-N-acetyl-"|||1p22.3|2016-10-05||2016-02-29|M95767|3.2.1.-|1486|ENSG00000117151|1549114_%2C__%20_7606925|NM_004388|816|Chitinases|CCDS698|OTTHUMG00000009922|1486|600873|NM_004388|Q01459|ENSG00000117151|uc001dka.3|DIAC_HUMAN||Q5VX50|Q01459|chitin_%20_catabolic_%20_process_%20_(GO:0006032)_%7C_oligosaccharide_%20_catabolic_%20_process_%20_(GO:0009313)|extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_lysosome_%20_(GO:0005764)|chitinase_%20_activity_%20_(GO:0004568)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 86841963 indel.4587 G GT . PASS FUNCOTATION=[ODF2L|hg19|chr1|86841963|86841964|FRAME_SHIFT_INS||INS|-|-|T|g.chr1:86841963_86841964insT|ENST00000370566.3|-|8|1130|c.762_763insA|c.(763-765)catfs|p.H255fs|0.2775|CTGTAAAATGGTCAAGCCTT|ODF2L_ENST00000359242.3_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000294678.2_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000317336.7_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000370567.1_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000394731.1_FRAME_SHIFT_INS_p.H124fs/ODF2L_ENST00000524695.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR591511|NM_001184766.1|NP_001171695.1|HGNC:29225|outer_%20_dense_%20_fiber_%20_of_%20_sperm_%20_tails_%20_2_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"outer_%20_dense_%20_fiber_%20_of_%20_sperm_%20_tails_%20_2-like"|KIAA1229||1p22.3|2016-04-25||2016-02-23|||57489|ENSG00000122417|10574462||||CCDS30763_%2C__%20_CCDS41354_%2C__%20_CCDS53339|OTTHUMG00000010080|57489||NM_001007022|Q9ULJ1|ENSG00000122417|uc001dlm.3|ODF2L_HUMAN||A8MU56_%7C_B4E037_%7C_Q05C40_%7C_Q5BJG5_%7C_Q5TBX3_%7C_Q5TBX4_%7C_Q86X31|Q9ULJ1||centrosome_%20_(GO:0005813)|||||true|false||false|false|||false|false|false|ODF2L:57489|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|867604743|86841963|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|147|rs867604743|] +1 89530860 rs17130722 A G . PASS FUNCOTATION=[GBP1|hg19|chr1|89530860|89530860|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:89530860A>G|ENST00000370473.4|-|1|||||0.40648379052369077|TTTTCTCCTTAGTTCACGAGC||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M55542|NM_002053.2|NP_002044.2|HGNC:4182|guanylate_%20_binding_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"guanylate_%20_binding_%20_protein_%20_1_%2C__%20_interferon-inducible_%2C__%20_67kDa"_%2C__%20_"guanylate_%20_binding_%20_protein_%20_1_%2C__%20_interferon-inducible"|||1p22.2|2016-01-21||2016-01-21|BC002666||2633|ENSG00000117228|7518790|NM_002053|||CCDS718|OTTHUMG00000010614|2633|600411|NM_002053|P32455|ENSG00000117228|uc001dmx.3|GBP1_HUMAN||D3DT26_%7C_Q5T8M1|P32455|cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_defense_%20_response_%20_to_%20_virus_%20_(GO:0051607)_%7C_interferon-gamma-mediated_%20_signaling_%20_pathway_%20_(GO:0060333)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_membrane_%20_(GO:0016020)|GTP_%20_binding_%20_(GO:0005525)_%7C_GTPase_%20_activity_%20_(GO:0003924)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 92729242 indel.4840 A AG . PASS FUNCOTATION=[GLMN|hg19|chr1|92729242|92729243|FRAME_SHIFT_INS||INS|-|-|G|g.chr1:92729242_92729243insG|ENST00000370360.3|-|15|1429|c.1346_1347insC|c.(1345-1347)cttfs|p.L450fs|0.325|CAAATCAAGAAGGGAAATCA|GLMN_ENST00000534881.1_FRAME_SHIFT_INS_p.L436fs|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)||||Multiple_%20_Glomus_%20_Tumors_%20_(of_%20_the_%20_Skin)_%2C__%20_Familial|Multiple_%20_Familial_%20_Glomangiomas_%2C__%20_Hereditary_%20_Multiple_%20_Glomus_%20_Tumors_%2C__%20_Familial_%20_Multiple_%20_Glomangiomatosis_%2C__%20_Inherited_%20_Cutaneous_%20_Venous_%20_Anomalies_%2C__%20_incl._%20_Familial_%20_Multiple_%20_Glomangiomyoma|Familial_%20_Cancer_%20_Database|U73704|NM_053274.2|NP_444504.1|HGNC:14373|glomulin_%2C__%20_FKBP_%20_associated_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|VMGLOM|"venous_%20_malformation_%20_with_%20_glomus_%20_cells"|FAP48_%2C__%20_GLML_%2C__%20_GVM_%2C__%20_FKBPAP||1p22.1|2014-11-19||2004-07-01|U73704||11146|ENSG00000174842|8955134|NM_007070|||CCDS738|OTTHUMG00000010283|11146|601749|NM_001319683|Q92990|ENSG00000174842|uc001dor.4|GLMN_HUMAN||Q5VVC3_%7C_Q9BVE8|Q92990|muscle_%20_cell_%20_differentiation_%20_(GO:0042692)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_T_%20_cell_%20_proliferation_%20_(GO:0042130)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_positive_%20_regulation_%20_of_%20_cytokine_%20_secretion_%20_(GO:0050715)_%7C_positive_%20_regulation_%20_of_%20_interleukin-2_%20_biosynthetic_%20_process_%20_(GO:0045086)_%7C_positive_%20_regulation_%20_of_%20_phosphorylation_%20_(GO:0042327)_%7C_regulation_%20_of_%20_gene_%20_expression_%2C__%20_epigenetic_%20_(GO:0040029)_%7C_regulation_%20_of_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0032434)_%7C_vasculogenesis_%20_(GO:0001570)|Cul2-RING_%20_ubiquitin_%20_ligase_%20_complex_%20_(GO:0031462)_%7C_Cul3-RING_%20_ubiquitin_%20_ligase_%20_complex_%20_(GO:0031463)_%7C_Cul4A-RING_%20_E3_%20_ubiquitin_%20_ligase_%20_complex_%20_(GO:0031464)_%7C_cullin-RING_%20_ubiquitin_%20_ligase_%20_complex_%20_(GO:0031461)_%7C_intracellular_%20_(GO:0005622)|hepatocyte_%20_growth_%20_factor_%20_receptor_%20_binding_%20_(GO:0005171)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_ubiquitin-protein_%20_transferase_%20_inhibitor_%20_activity_%20_(GO:0055105)||||true|false||false|false|||false|false|false|GLMN:11146|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|763357116|92729242|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs763357116|] +1 93645613 var_1_93645613 G A . PASS FUNCOTATION=[CCDC18|hg19|chr1|93645613|93645613|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:93645613G>A|ENST00000343253.7|+|1|||||0.6483790523690773|GCACTTACTTGGTACTCGATC|TMED5_ENST00000370282.3_NONSENSE_p.Q63*/TMED5_ENST00000479918.1_NONSENSE_p.Q63*/TMED5_ENST00000370280.1_NONSENSE_p.Q63*/CCDC18_ENST00000334652.5_FIVE_PRIME_FLANK/CCDC18_ENST00000338949.4_FIVE_PRIME_FLANK/CCDC18_ENST00000401026.3_FIVE_PRIME_FLANK/CCDC18_ENST00000557479.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||137|biliary_tract(2)_%7C_breast(33)_%7C_central_nervous_system(44)_%7C_large_intestine(35)_%7C_lung(1)_%7C_pancreas(22)|||||||AL139421|||HGNC:30370|coiled-coil_%20_domain_%20_containing_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||NY-SAR-41||1p22.1|2015-08-26|||||343099|ENSG00000122483|12601173|NM_206886|||CCDS76180|OTTHUMG00000010598|343099||NM_001306076|Q5T9S5|ENSG00000122483|uc057iix.1|CCD18_HUMAN||Q6ZU17|Q5T9S5|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 94344716 rs2235971 C T . PASS FUNCOTATION=[DNTTIP2|hg19|chr1|94344716|94344716|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:94344716C>T|ENST00000436063.2|-|1|||||0.6059850374064838|TTTCCGGCTCCCTCGCGACCA|DNTTIP2_ENST00000460191.1_INTRON|||||||||||||||||||||||||1|breast(1)|||||||U15552|NM_014597.4|NP_055412.2|HGNC:24013|deoxynucleotidyltransferase_%20_terminal_%20_interacting_%20_protein_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"deoxynucleotidyltransferase_%2C__%20_terminal_%2C__%20_interacting_%20_protein_%20_2"|HSU15552_%2C__%20_ERBP_%2C__%20_TdIF2|"acidic_%20_82_%20_kDa_%20_protein_%20_mRNA"|1p22.1|2016-04-05||2016-04-05|AY394925||30836|ENSG00000067334|15047147|NM_014597|||CCDS44174|OTTHUMG00000010268|30836|611199|NM_014597|Q5QJE6|ENSG00000067334|uc001dqf.4|TDIF2_HUMAN||Q12987_%7C_Q53H59_%7C_Q5TFJ4_%7C_Q6TLI0_%7C_Q76MJ8_%7C_Q86WX9|Q5QJE6|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 94697167 exm76553 T C . PASS FUNCOTATION=[ARHGAP29|hg19|chr1|94697167|94697167|START_CODON_SNP||SNP|T|T|C|g.chr1:94697167T>C|ENST00000260526.6|-|2|184|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.3541147132169576|TGAGCAATCATCCTTTCATGT|ARHGAP29_ENST00000370217.3_START_CODON_SNP_p.M1V|||||||||||||||||||||||||251|biliary_tract(2)_%7C_breast(49)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(2)_%7C_oesophagus(3)_%7C_pancreas(22)|||||||U90920|NM_004815.3|NP_004806.3|HGNC:30207|Rho_%20_GTPase_%20_activating_%20_protein_%20_29|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||PARG1||1p22.1|2014-11-18|||||9411|ENSG00000137962|9305890|NM_004815|721|Rho_%20_GTPase_%20_activating_%20_proteins|CCDS748|OTTHUMG00000010643|9411|610496|NM_004815|Q52LW3|ENSG00000137962|uc001dqj.5|RHG29_HUMAN||O15463_%7C_Q59H86_%7C_Q5VYZ0_%7C_Q6NVX2_%7C_Q8TBI6|Q52LW3|positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_Rho_%20_protein_%20_signal_%20_transduction_%20_(GO:0007266)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cytosol_%20_(GO:0005829)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_PDZ_%20_domain_%20_binding_%20_(GO:0030165)_%7C_Rho_%20_GTPase_%20_activator_%20_activity_%20_(GO:0005100)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 100174455 exm1689665 T C . PASS FUNCOTATION=[FRRS1|hg19|chr1|100174455|100174455|NONSTOP||SNP|T|T|C|g.chr1:100174455T>C|ENST00000287474.5|-|17|2482|c.1880A>G|c.(1879-1881)tAg>tGg|p.*627W|0.36159600997506236|AGAATTCCTCTACAGACATGA|FRRS1_ENST00000414213.1_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471097|NM_001013660.2|NP_001013682.2|HGNC:27622|ferric_%20_chelate_%20_reductase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SDFR2|"stromal_%20_cell_%20_derived_%20_factor_%20_receptor_%20_2_%20_homolog_%20_(mouse)"_%2C__%20_"ferric-chelate_%20_reductase_%20_1"|SDR2||1p21.2|2016-10-05|2006-02-22|2016-01-21|AK131302||391059|ENSG00000156869||NM_001013660|||CCDS30780|OTTHUMG00000010768|391059|611578|NM_001013660|Q6ZNA5|ENSG00000156869|uc001dsh.1|FRRS1_HUMAN||A6NLN7|Q6ZNA5||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|ferric-chelate_%20_reductase_%20_activity_%20_(GO:0000293)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 101354386 newrs77649301 T C . PASS FUNCOTATION=[EXTL2|hg19|chr1|101354386|101354386|DE_NOVO_START_IN_FRAME||SNP|T|T|C|g.chr1:101354386T>C|ENST00000370113.3|-|2|||||0.30423940149625933|CACTTGTCACTATTAAGATAA|EXTL2_ENST00000370114.3_SPLICE_SITE/EXTL2_ENST00000535414.1_SPLICE_SITE/EXTL2_ENST00000480774.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U76189|NM_001439.3|NP_001430.1|HGNC:3516|exostosin_%20_like_%20_glycosyltransferase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"exostoses_%20_(multiple)-like_%20_2"||"alpha-1_%2C_4-N-acteylhexosaminyltransferase"|1p21.2|2016-10-05||2016-06-01|U76189|2.4.1.223|2135|ENSG00000162694|9450183_%2C__%20_15831490|NM_001439|431|Exostosin_%20_glycosyltransferase_%20_family|CCDS775_%2C__%20_CCDS72831|OTTHUMG00000011814|2135|602411|NM_001033025|Q9UBQ6|ENSG00000162694|uc001dtl.3|EXTL2_HUMAN||B2R795_%7C_D3DT60|Q9UBQ6|heparan_%20_sulfate_%20_proteoglycan_%20_biosynthetic_%20_process_%20_(GO:0015012)_%7C_N-acetylglucosamine_%20_metabolic_%20_process_%20_(GO:0006044)_%7C_UDP-N-acetylgalactosamine_%20_metabolic_%20_process_%20_(GO:0019276)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intrinsic_%20_component_%20_of_%20_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0031227)|alpha-1_%2C_4-N-acetylgalactosaminyltransferase_%20_activity_%20_(GO:0035248)_%7C_glucuronyl-galactosyl-proteoglycan_%20_4-alpha-N-acetylglucosaminyltransferase_%20_activity_%20_(GO:0001888)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 101361178 rs17123491 C T . PASS FUNCOTATION=[EXTL2|hg19|chr1|101361178|101361178|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:101361178C>T|ENST00000370114.3|-|1|||||0.5361596009975063|GGAATGGATTCCTAAGATTTG|SLC30A7_ENST00000357650.4_FIVE_PRIME_FLANK/SLC30A7_ENST00000370112.4_FIVE_PRIME_FLANK/EXTL2_ENST00000370113.3_FIVE_PRIME_FLANK/EXTL2_ENST00000535414.1_FIVE_PRIME_FLANK/EXTL2_ENST00000480774.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U76189|NM_001261440.1|NP_001248371.1|HGNC:3516|exostosin_%20_like_%20_glycosyltransferase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"exostoses_%20_(multiple)-like_%20_2"||"alpha-1_%2C_4-N-acteylhexosaminyltransferase"|1p21.2|2016-10-05||2016-06-01|U76189|2.4.1.223|2135|ENSG00000162694|9450183_%2C__%20_15831490|NM_001439|431|Exostosin_%20_glycosyltransferase_%20_family|CCDS775_%2C__%20_CCDS72831|OTTHUMG00000011814|2135|602411|NM_001033025|Q9UBQ6|ENSG00000162694|uc001dtl.3|EXTL2_HUMAN||B2R795_%7C_D3DT60|Q9UBQ6|heparan_%20_sulfate_%20_proteoglycan_%20_biosynthetic_%20_process_%20_(GO:0015012)_%7C_N-acetylglucosamine_%20_metabolic_%20_process_%20_(GO:0006044)_%7C_UDP-N-acetylgalactosamine_%20_metabolic_%20_process_%20_(GO:0019276)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intrinsic_%20_component_%20_of_%20_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0031227)|alpha-1_%2C_4-N-acetylgalactosaminyltransferase_%20_activity_%20_(GO:0035248)_%7C_glucuronyl-galactosyl-proteoglycan_%20_4-alpha-N-acetylglucosaminyltransferase_%20_activity_%20_(GO:0001888)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 109289353 rs1124427 C G . PASS FUNCOTATION=[STXBP3|hg19|chr1|109289353|109289353|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:109289353C>G|ENST00000370008.3|+|1|||||0.6658354114713217|TCCGCAGTGTCGGGAAGATGG||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||D63506|NM_007269.2|NP_009200.2|HGNC:11446|syntaxin_%20_binding_%20_protein_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||UNC-18C||1p13.3|2014-11-19|||D63506||6814|ENSG00000116266|10194441|NM_007269|||CCDS790|OTTHUMG00000011122|6814|608339|NM_007269|O00186|ENSG00000116266|uc001dvy.4|STXB3_HUMAN||A8K269_%7C_A8K5K7_%7C_Q53FW1_%7C_Q86YJ3_%7C_Q9UPD7|O00186|blood_%20_coagulation_%20_(GO:0007596)_%7C_membrane_%20_organization_%20_(GO:0061024)_%7C_negative_%20_regulation_%20_of_%20_calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0045955)_%7C_neutrophil_%20_degranulation_%20_(GO:0043312)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_platelet_%20_aggregation_%20_(GO:0070527)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_transport_%20_(GO:0015031)_%7C_vesicle_%20_docking_%20_involved_%20_in_%20_exocytosis_%20_(GO:0006904)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_basolateral_%20_plasma_%20_membrane_%20_(GO:0016323)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_platelet_%20_alpha_%20_granule_%20_(GO:0031091)_%7C_specific_%20_granule_%20_(GO:0042581)_%7C_tertiary_%20_granule_%20_(GO:0070820)|syntaxin_%20_binding_%20_(GO:0019905)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 109633256 rs521734 C G . PASS FUNCOTATION=[TMEM167B|hg19|chr1|109633256|109633256|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:109633256C>G|ENST00000338272.8|+|1|||||0.571072319201995|CGGCCAAGTACGAAGCCTTCG|RP5-1065J22.8_ENST00000608574.1_RNA/TMEM167B_ENST00000473828.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||46|biliary_tract(2)_%7C_central_nervous_system(22)_%7C_pancreas(22)|||||||CH471122|NM_020141.3|NP_064526.1|HGNC:30187|transmembrane_%20_protein_%20_167B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf119|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_119"|AD-020_%2C__%20_FLJ90710||1p13.3|2014-11-19|2008-06-06|2008-06-06|||56900|ENSG00000215717|12477932|NM_020141|||CCDS30789|OTTHUMG00000042364|56900||NM_001322248|Q9NRX6|ENSG00000215717|uc001dwn.4|KISHB_HUMAN||B2RUU9|Q9NRX6||Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 110198727 kgp3155172 C G . PASS FUNCOTATION=[GSTM4|hg19|chr1|110198727|110198727|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:110198727C>G|ENST00000369836.4|+|1|||||0.6508728179551122|CCTCCTAGTGCTTCCGGACCT|GSTM4_ENST00000336075.5_FIVE_PRIME_UTR/GSTM4_ENST00000326729.5_FIVE_PRIME_FLANK/GSTM4_ENST00000369833.1_FIVE_PRIME_FLANK/GSTM4_ENST00000495742.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||44|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)|||||||X68677|NM_000850.4|NP_000841.1|HGNC:4636|glutathione_%20_S-transferase_%20_mu_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"glutathione_%20_S-transferase_%20_M4"|||1p13.3|2015-09-11||2008-11-26|M96234|2.5.1.18|2948|ENSG00000168765|8276420|NM_000850|567|Soluble_%20_glutathione_%20_S-transferases|CCDS806_%2C__%20_CCDS807|OTTHUMG00000011642|2948|138333|NM_000850|Q03013|ENSG00000168765|uc001dyf.4|GSTM4_HUMAN|Glutathione(DB00143)|A8K765_%7C_Q05465_%7C_Q32NC1_%7C_Q4JNT8_%7C_Q6FH87|Q03013|glutathione_%20_derivative_%20_biosynthetic_%20_process_%20_(GO:1901687)_%7C_glutathione_%20_metabolic_%20_process_%20_(GO:0006749)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_catabolic_%20_process_%20_(GO:0042178)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)|enzyme_%20_binding_%20_(GO:0019899)_%7C_glutathione_%20_binding_%20_(GO:0043295)_%7C_glutathione_%20_transferase_%20_activity_%20_(GO:0004364)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 110198788 kgp25277353 T C . PASS FUNCOTATION=[GSTM4|hg19|chr1|110198788|110198788|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:110198788T>C|ENST00000369836.4|+|1|||||0.6583541147132169|TTCCAGCCAGTGAGGATCCAG|GSTM4_ENST00000326729.5_FIVE_PRIME_UTR/GSTM4_ENST00000336075.5_FIVE_PRIME_UTR/GSTM4_ENST00000369833.1_FIVE_PRIME_FLANK/GSTM4_ENST00000495742.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||44|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)|||||||X68677|NM_000850.4|NP_000841.1|HGNC:4636|glutathione_%20_S-transferase_%20_mu_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"glutathione_%20_S-transferase_%20_M4"|||1p13.3|2015-09-11||2008-11-26|M96234|2.5.1.18|2948|ENSG00000168765|8276420|NM_000850|567|Soluble_%20_glutathione_%20_S-transferases|CCDS806_%2C__%20_CCDS807|OTTHUMG00000011642|2948|138333|NM_000850|Q03013|ENSG00000168765|uc001dyf.4|GSTM4_HUMAN|Glutathione(DB00143)|A8K765_%7C_Q05465_%7C_Q32NC1_%7C_Q4JNT8_%7C_Q6FH87|Q03013|glutathione_%20_derivative_%20_biosynthetic_%20_process_%20_(GO:1901687)_%7C_glutathione_%20_metabolic_%20_process_%20_(GO:0006749)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_catabolic_%20_process_%20_(GO:0042178)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)|enzyme_%20_binding_%20_(GO:0019899)_%7C_glutathione_%20_binding_%20_(GO:0043295)_%7C_glutathione_%20_transferase_%20_activity_%20_(GO:0004364)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 110210671 rs625456 G T . PASS FUNCOTATION=[GSTM2|hg19|chr1|110210671|110210671|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:110210671G>T|ENST00000369831.2|+|1|||||0.6783042394014963|ACCCTCTCTGGGCCTCTCACA|GSTM2_ENST00000442650.1_FIVE_PRIME_UTR/GSTM2_ENST00000369827.3_FIVE_PRIME_UTR/GSTM2_ENST00000241337.4_FIVE_PRIME_FLANK/GSTM2_ENST00000369829.2_FIVE_PRIME_FLANK/GSTM2_ENST00000414179.2_FIVE_PRIME_FLANK/GSTM2_ENST00000460717.3_FIVE_PRIME_FLANK/GSTM2_ENST00000464206.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X56838|||HGNC:4634|glutathione_%20_S-transferase_%20_mu_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"glutathione_%20_S-transferase_%20_M2_%20_(muscle)"_%2C__%20_"glutathione_%20_S-transferase_%20_mu_%20_2_%20_(muscle)"|GST4||1p13.3|2016-06-27||2016-06-27|M63509|2.5.1.18|2946|ENSG00000213366|2034681_%2C__%20_2345169|NM_000848|567|Soluble_%20_glutathione_%20_S-transferases|CCDS808_%2C__%20_CCDS44192|OTTHUMG00000011638|2946|138380|NM_000848|P28161|ENSG00000213366|uc001dyj.4|GSTM2_HUMAN|Glutathione(DB00143)|B4DRY4_%7C_E9PEM9_%7C_Q2M318_%7C_Q5TZY5_%7C_Q8WWE1|P28161|cellular_%20_detoxification_%20_of_%20_nitrogen_%20_compound_%20_(GO:0070458)_%7C_cellular_%20_response_%20_to_%20_caffeine_%20_(GO:0071313)_%7C_glutathione_%20_derivative_%20_biosynthetic_%20_process_%20_(GO:1901687)_%7C_glutathione_%20_metabolic_%20_process_%20_(GO:0006749)_%7C_negative_%20_regulation_%20_of_%20_ryanodine-sensitive_%20_calcium-release_%20_channel_%20_activity_%20_(GO:0060315)_%7C_nitrobenzene_%20_metabolic_%20_process_%20_(GO:0018916)_%7C_positive_%20_regulation_%20_of_%20_ryanodine-sensitive_%20_calcium-release_%20_channel_%20_activity_%20_(GO:0060316)_%7C_regulation_%20_of_%20_cardiac_%20_muscle_%20_contraction_%20_by_%20_regulation_%20_of_%20_the_%20_release_%20_of_%20_sequestered_%20_calcium_%20_ion_%20_(GO:0010881)_%7C_regulation_%20_of_%20_release_%20_of_%20_sequestered_%20_calcium_%20_ion_%20_into_%20_cytosol_%20_by_%20_sarcoplasmic_%20_reticulum_%20_(GO:0010880)_%7C_regulation_%20_of_%20_skeletal_%20_muscle_%20_contraction_%20_by_%20_regulation_%20_of_%20_release_%20_of_%20_sequestered_%20_calcium_%20_ion_%20_(GO:0014809)_%7C_relaxation_%20_of_%20_cardiac_%20_muscle_%20_(GO:0055119)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_catabolic_%20_process_%20_(GO:0042178)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_sarcoplasmic_%20_reticulum_%20_(GO:0016529)|enzyme_%20_binding_%20_(GO:0019899)_%7C_glutathione_%20_binding_%20_(GO:0043295)_%7C_glutathione_%20_transferase_%20_activity_%20_(GO:0004364)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_receptor_%20_binding_%20_(GO:0005102)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 110210740 exm1692076 G A . PASS FUNCOTATION=[GSTM2|hg19|chr1|110210740|110210740|START_CODON_SNP||SNP|G|G|A|g.chr1:110210740G>A|ENST00000241337.4|+|1|53|c.3G>A|c.(1-3)atG>atA|p.M1I|0.6932668329177057|CCAGCACCATGCCCATGACAC|GSTM2_ENST00000369831.2_START_CODON_SNP_p.M1I/GSTM2_ENST00000442650.1_START_CODON_SNP_p.M1I/GSTM2_ENST00000460717.3_START_CODON_SNP_p.M1I/GSTM2_ENST00000369829.2_START_CODON_SNP_p.M1I/GSTM2_ENST00000414179.2_FIVE_PRIME_UTR/GSTM2_ENST00000369827.3_FIVE_PRIME_UTR/GSTM2_ENST00000464206.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X56838|NM_000848.3|NP_000839.1|HGNC:4634|glutathione_%20_S-transferase_%20_mu_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"glutathione_%20_S-transferase_%20_M2_%20_(muscle)"_%2C__%20_"glutathione_%20_S-transferase_%20_mu_%20_2_%20_(muscle)"|GST4||1p13.3|2016-06-27||2016-06-27|M63509|2.5.1.18|2946|ENSG00000213366|2034681_%2C__%20_2345169|NM_000848|567|Soluble_%20_glutathione_%20_S-transferases|CCDS808_%2C__%20_CCDS44192|OTTHUMG00000011638|2946|138380|NM_000848|P28161|ENSG00000213366|uc001dyj.4|GSTM2_HUMAN|Glutathione(DB00143)|B4DRY4_%7C_E9PEM9_%7C_Q2M318_%7C_Q5TZY5_%7C_Q8WWE1|P28161|cellular_%20_detoxification_%20_of_%20_nitrogen_%20_compound_%20_(GO:0070458)_%7C_cellular_%20_response_%20_to_%20_caffeine_%20_(GO:0071313)_%7C_glutathione_%20_derivative_%20_biosynthetic_%20_process_%20_(GO:1901687)_%7C_glutathione_%20_metabolic_%20_process_%20_(GO:0006749)_%7C_negative_%20_regulation_%20_of_%20_ryanodine-sensitive_%20_calcium-release_%20_channel_%20_activity_%20_(GO:0060315)_%7C_nitrobenzene_%20_metabolic_%20_process_%20_(GO:0018916)_%7C_positive_%20_regulation_%20_of_%20_ryanodine-sensitive_%20_calcium-release_%20_channel_%20_activity_%20_(GO:0060316)_%7C_regulation_%20_of_%20_cardiac_%20_muscle_%20_contraction_%20_by_%20_regulation_%20_of_%20_the_%20_release_%20_of_%20_sequestered_%20_calcium_%20_ion_%20_(GO:0010881)_%7C_regulation_%20_of_%20_release_%20_of_%20_sequestered_%20_calcium_%20_ion_%20_into_%20_cytosol_%20_by_%20_sarcoplasmic_%20_reticulum_%20_(GO:0010880)_%7C_regulation_%20_of_%20_skeletal_%20_muscle_%20_contraction_%20_by_%20_regulation_%20_of_%20_release_%20_of_%20_sequestered_%20_calcium_%20_ion_%20_(GO:0014809)_%7C_relaxation_%20_of_%20_cardiac_%20_muscle_%20_(GO:0055119)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_catabolic_%20_process_%20_(GO:0042178)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_sarcoplasmic_%20_reticulum_%20_(GO:0016529)|enzyme_%20_binding_%20_(GO:0019899)_%7C_glutathione_%20_binding_%20_(GO:0043295)_%7C_glutathione_%20_transferase_%20_activity_%20_(GO:0004364)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_receptor_%20_binding_%20_(GO:0005102)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 110255320 var_1_110255320 T C . PASS FUNCOTATION=[GSTM5|hg19|chr1|110255320|110255320|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:110255320T>C|ENST00000369813.1|+|2|||||0.628428927680798|GGGACGGTAATGGCACCCTCG|GSTM5_ENST00000256593.3_INTRON/GSTM5_ENST00000369812.5_INTRON/GSTM5_ENST00000492718.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||134|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(61)_%7C_large_intestine(11)_%7C_oesophagus(2)_%7C_pancreas(22)_%7C_soft_tissue(25)|||||||CH471122|||HGNC:4637|glutathione_%20_S-transferase_%20_mu_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"glutathione_%20_S-transferase_%20_M5"|||1p13.3|2014-11-19||2008-11-26|L02321|2.5.1.18|2949|ENSG00000134201|8473333|NM_000851|567|Soluble_%20_glutathione_%20_S-transferases|CCDS811|OTTHUMG00000011644|2949|138385|NM_000851|P46439|ENSG00000134201|uc001dyn.4|GSTM5_HUMAN|Glutathione(DB00143)|A8K0V8_%7C_Q6PD78|P46439|glutathione_%20_derivative_%20_biosynthetic_%20_process_%20_(GO:1901687)_%7C_glutathione_%20_metabolic_%20_process_%20_(GO:0006749)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|cytosol_%20_(GO:0005829)|glutathione_%20_transferase_%20_activity_%20_(GO:0004364)||||true|false||false|false|||false|false|false|GSTM5:2949|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|868017653|110255320|false|false|0|false|0|false||false|false|false|SNV|false|0x0500000a0005000402000100|1|false|147|rs868017653|] +1 110282909 exm1692490 T C . PASS FUNCOTATION=[GSTM3|hg19|chr1|110282909|110282909|START_CODON_SNP||SNP|T|T|C|g.chr1:110282909T>C|ENST00000540225.1|-|2|312|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6708229426433915|TCGCACGACATGGTGACGGGC|GSTM3_ENST00000361066.2_START_CODON_SNP_p.M1V/GSTM3_ENST00000256594.3_START_CODON_SNP_p.M1V/RP4-735C1.4_ENST00000431955.1_RNA/GSTM3_ENST00000488824.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||J05459|||HGNC:4635|glutathione_%20_S-transferase_%20_mu_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"glutathione_%20_S-transferase_%20_M3_%20_(brain)"_%2C__%20_"glutathione_%20_S-transferase_%20_mu_%20_3_%20_(brain)"|GST5||1p13.3|2016-06-27||2016-06-27|BC000088|2.5.1.18|2947|ENSG00000134202|2345169|NM_000849|567|Soluble_%20_glutathione_%20_S-transferases|CCDS812|OTTHUMG00000011640|2947|138390|NM_000849|P21266|ENSG00000134202|uc057jbx.1|GSTM3_HUMAN|Glutathione(DB00143)_%7C_Vitamin_%20_E(DB00163)|O60550_%7C_Q96HA3|P21266|cellular_%20_detoxification_%20_of_%20_nitrogen_%20_compound_%20_(GO:0070458)_%7C_establishment_%20_of_%20_blood-nerve_%20_barrier_%20_(GO:0008065)_%7C_glutathione_%20_derivative_%20_biosynthetic_%20_process_%20_(GO:1901687)_%7C_glutathione_%20_metabolic_%20_process_%20_(GO:0006749)_%7C_nitrobenzene_%20_metabolic_%20_process_%20_(GO:0018916)_%7C_response_%20_to_%20_estrogen_%20_(GO:0043627)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_catabolic_%20_process_%20_(GO:0042178)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleus_%20_(GO:0005634)_%7C_sperm_%20_fibrous_%20_sheath_%20_(GO:0035686)|enzyme_%20_binding_%20_(GO:0019899)_%7C_glutathione_%20_binding_%20_(GO:0043295)_%7C_glutathione_%20_transferase_%20_activity_%20_(GO:0004364)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|GSTM3:2947|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|202171165|110282909|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs202171165|] +1 110300600 indel.5498 C CCTGCTGGTTTT . PASS FUNCOTATION=[EPS8L3|hg19|chr1|110300600|110300601|FRAME_SHIFT_INS||INS|-|-|CTGCTGGTTTT|g.chr1:110300600_110300601insCTGCTGGTTTT|ENST00000369805.3|-|9|1031|c.800_801insAAAACCAGCAG|c.(799-801)aagfs|p.K269fs|0.58|AAATTTCTTCTTCCTGCTGG|EPS8L3_ENST00000361965.4_FRAME_SHIFT_INS_p.K268fs/EPS8L3_ENST00000361852.4_FRAME_SHIFT_INS_p.K268fs/RP4-735C1.4_ENST00000431955.1_RNA|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(12)_%7C_lung(1)_%7C_pancreas(22)|||||||BC012926|NM_139053.2|NP_620641.1|HGNC:21297|EPS8_%20_like_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"EPS8-like_%20_3"|FLJ21522_%2C__%20_MGC16817||1p13.3|2016-10-05||2016-01-20|AK025175||79574|ENSG00000198758|12620401|NM_024526|||CCDS813_%2C__%20_CCDS814_%2C__%20_CCDS815|OTTHUMG00000011651|79574|614989|NM_001319952|Q8TE67|ENSG00000198758|uc001dyq.3|ES8L3_HUMAN||A8K833_%7C_Q5T8Q6_%7C_Q5T8Q7_%7C_Q5T8Q8_%7C_Q96E47_%7C_Q9H719|Q8TE67||cytoplasm_%20_(GO:0005737)|||||true|false||false|false|||false|false|false|EPS8L3:79574_%7C_LOC101928585:101928585|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|562835845|110300600|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|DIV|true|0x050000081205040402000200|1|false|142|rs562835845|] +1 110950259 exm82881 T C . PASS FUNCOTATION=[LAMTOR5|hg19|chr1|110950259|110950259|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:110950259T>C|ENST00000602318.1|-|1|||||0.6458852867830424|CACCGACCACTCCGGCTCAGA|LAMTOR5_ENST00000256644.4_MISSENSE_p.E77G/LAMTOR5_ENST00000474861.2_FIVE_PRIME_UTR/LAMTOR5_ENST00000483260.1_FIVE_PRIME_UTR/LAMTOR5_ENST00000602858.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590413.1_RNA/LAMTOR5-AS1_ENST00000457535.1_RNA/LAMTOR5-AS1_ENST00000585330.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000587691.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590826.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000598454.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608067.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608253.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608486.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608499.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608602.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609244.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609512.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609653.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609709.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000610148.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CR542130|||HGNC:17955|late_%20_endosomal/lysosomal_%20_adaptor_%2C__%20_MAPK_%20_and_%20_MTOR_%20_activator_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HBXIP|"hepatitis_%20_B_%20_virus_%20_x_%20_interacting_%20_protein"|XIP_%2C__%20_MGC71071|"HBx-interacting_%20_protein"_%2C__%20_"hepatitis_%20_B_%20_virus_%20_x-interacting_%20_protein_%20_(9.6kD)"|1p13.3|2016-10-05|2012-09-24|2012-09-24|AF029890||10542|ENSG00000134248|9499022_%2C__%20_22980980|NM_006402|1040|Ragulator_%20_complex_%20_|CCDS824|OTTHUMG00000011568|10542|608521|NM_006402|O43504|ENSG00000134248|uc057jdz.1|LTOR5_HUMAN||Q6IBD8|O43504|cellular_%20_response_%20_to_%20_amino_%20_acid_%20_stimulus_%20_(GO:0071230)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_(GO:0043154)_%7C_positive_%20_regulation_%20_of_%20_GTPase_%20_activity_%20_(GO:0043547)_%7C_positive_%20_regulation_%20_of_%20_TOR_%20_signaling_%20_(GO:0032008)_%7C_protein_%20_localization_%20_to_%20_lysosome_%20_(GO:0061462)_%7C_regulation_%20_of_%20_cell_%20_size_%20_(GO:0008361)_%7C_response_%20_to_%20_virus_%20_(GO:0009615)_%7C_viral_%20_genome_%20_replication_%20_(GO:0019079)|cytosol_%20_(GO:0005829)_%7C_lysosome_%20_(GO:0005764)_%7C_Ragulator_%20_complex_%20_(GO:0071986)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 110950277 exm82883 G A . PASS FUNCOTATION=[LAMTOR5|hg19|chr1|110950277|110950277|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:110950277G>A|ENST00000602318.1|-|1|||||0.6508728179551122|AGAACCCAGCGGCACGGCACG|LAMTOR5_ENST00000256644.4_MISSENSE_p.P71L/LAMTOR5_ENST00000474861.2_FIVE_PRIME_UTR/LAMTOR5_ENST00000483260.1_FIVE_PRIME_UTR/LAMTOR5_ENST00000602858.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590413.1_RNA/LAMTOR5-AS1_ENST00000457535.1_RNA/LAMTOR5-AS1_ENST00000585330.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000587691.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590826.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000598454.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608067.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608253.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608486.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608499.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608602.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609244.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609512.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609653.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609709.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000610148.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CR542130|||HGNC:17955|late_%20_endosomal/lysosomal_%20_adaptor_%2C__%20_MAPK_%20_and_%20_MTOR_%20_activator_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HBXIP|"hepatitis_%20_B_%20_virus_%20_x_%20_interacting_%20_protein"|XIP_%2C__%20_MGC71071|"HBx-interacting_%20_protein"_%2C__%20_"hepatitis_%20_B_%20_virus_%20_x-interacting_%20_protein_%20_(9.6kD)"|1p13.3|2016-10-05|2012-09-24|2012-09-24|AF029890||10542|ENSG00000134248|9499022_%2C__%20_22980980|NM_006402|1040|Ragulator_%20_complex_%20_|CCDS824|OTTHUMG00000011568|10542|608521|NM_006402|O43504|ENSG00000134248|uc057jdz.1|LTOR5_HUMAN||Q6IBD8|O43504|cellular_%20_response_%20_to_%20_amino_%20_acid_%20_stimulus_%20_(GO:0071230)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_(GO:0043154)_%7C_positive_%20_regulation_%20_of_%20_GTPase_%20_activity_%20_(GO:0043547)_%7C_positive_%20_regulation_%20_of_%20_TOR_%20_signaling_%20_(GO:0032008)_%7C_protein_%20_localization_%20_to_%20_lysosome_%20_(GO:0061462)_%7C_regulation_%20_of_%20_cell_%20_size_%20_(GO:0008361)_%7C_response_%20_to_%20_virus_%20_(GO:0009615)_%7C_viral_%20_genome_%20_replication_%20_(GO:0019079)|cytosol_%20_(GO:0005829)_%7C_lysosome_%20_(GO:0005764)_%7C_Ragulator_%20_complex_%20_(GO:0071986)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 110950295 exm82888 C A . PASS FUNCOTATION=[LAMTOR5|hg19|chr1|110950295|110950295|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:110950295C>A|ENST00000602318.1|-|1|||||0.6458852867830424|ACGTCCTTCTCCACCACAGGC|LAMTOR5_ENST00000256644.4_MISSENSE_p.G65V/LAMTOR5_ENST00000474861.2_FIVE_PRIME_FLANK/LAMTOR5_ENST00000483260.1_FIVE_PRIME_FLANK/LAMTOR5_ENST00000602858.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590413.1_RNA/LAMTOR5-AS1_ENST00000457535.1_RNA/LAMTOR5-AS1_ENST00000585330.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000587691.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590826.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000598454.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608067.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608253.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608486.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608499.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608602.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609244.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609512.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609653.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609709.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000610148.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CR542130|||HGNC:17955|late_%20_endosomal/lysosomal_%20_adaptor_%2C__%20_MAPK_%20_and_%20_MTOR_%20_activator_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HBXIP|"hepatitis_%20_B_%20_virus_%20_x_%20_interacting_%20_protein"|XIP_%2C__%20_MGC71071|"HBx-interacting_%20_protein"_%2C__%20_"hepatitis_%20_B_%20_virus_%20_x-interacting_%20_protein_%20_(9.6kD)"|1p13.3|2016-10-05|2012-09-24|2012-09-24|AF029890||10542|ENSG00000134248|9499022_%2C__%20_22980980|NM_006402|1040|Ragulator_%20_complex_%20_|CCDS824|OTTHUMG00000011568|10542|608521|NM_006402|O43504|ENSG00000134248|uc057jdz.1|LTOR5_HUMAN||Q6IBD8|O43504|cellular_%20_response_%20_to_%20_amino_%20_acid_%20_stimulus_%20_(GO:0071230)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_(GO:0043154)_%7C_positive_%20_regulation_%20_of_%20_GTPase_%20_activity_%20_(GO:0043547)_%7C_positive_%20_regulation_%20_of_%20_TOR_%20_signaling_%20_(GO:0032008)_%7C_protein_%20_localization_%20_to_%20_lysosome_%20_(GO:0061462)_%7C_regulation_%20_of_%20_cell_%20_size_%20_(GO:0008361)_%7C_response_%20_to_%20_virus_%20_(GO:0009615)_%7C_viral_%20_genome_%20_replication_%20_(GO:0019079)|cytosol_%20_(GO:0005829)_%7C_lysosome_%20_(GO:0005764)_%7C_Ragulator_%20_complex_%20_(GO:0071986)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 110950313 exm82890 A G . PASS FUNCOTATION=[LAMTOR5|hg19|chr1|110950313|110950313|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:110950313A>G|ENST00000602318.1|-|1|||||0.6408977556109726|GGCCTCAGTCACTTGACGCGA|LAMTOR5_ENST00000256644.4_MISSENSE_p.V59A/LAMTOR5_ENST00000474861.2_FIVE_PRIME_FLANK/LAMTOR5_ENST00000483260.1_FIVE_PRIME_FLANK/LAMTOR5_ENST00000602858.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590413.1_RNA/LAMTOR5-AS1_ENST00000457535.1_RNA/LAMTOR5-AS1_ENST00000585330.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000587691.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590826.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000598454.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608067.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608253.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608486.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608499.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608602.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609244.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609512.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609653.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609709.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000610148.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CR542130|||HGNC:17955|late_%20_endosomal/lysosomal_%20_adaptor_%2C__%20_MAPK_%20_and_%20_MTOR_%20_activator_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HBXIP|"hepatitis_%20_B_%20_virus_%20_x_%20_interacting_%20_protein"|XIP_%2C__%20_MGC71071|"HBx-interacting_%20_protein"_%2C__%20_"hepatitis_%20_B_%20_virus_%20_x-interacting_%20_protein_%20_(9.6kD)"|1p13.3|2016-10-05|2012-09-24|2012-09-24|AF029890||10542|ENSG00000134248|9499022_%2C__%20_22980980|NM_006402|1040|Ragulator_%20_complex_%20_|CCDS824|OTTHUMG00000011568|10542|608521|NM_006402|O43504|ENSG00000134248|uc057jdz.1|LTOR5_HUMAN||Q6IBD8|O43504|cellular_%20_response_%20_to_%20_amino_%20_acid_%20_stimulus_%20_(GO:0071230)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_(GO:0043154)_%7C_positive_%20_regulation_%20_of_%20_GTPase_%20_activity_%20_(GO:0043547)_%7C_positive_%20_regulation_%20_of_%20_TOR_%20_signaling_%20_(GO:0032008)_%7C_protein_%20_localization_%20_to_%20_lysosome_%20_(GO:0061462)_%7C_regulation_%20_of_%20_cell_%20_size_%20_(GO:0008361)_%7C_response_%20_to_%20_virus_%20_(GO:0009615)_%7C_viral_%20_genome_%20_replication_%20_(GO:0019079)|cytosol_%20_(GO:0005829)_%7C_lysosome_%20_(GO:0005764)_%7C_Ragulator_%20_complex_%20_(GO:0071986)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 111148080 rs3887820 C A . PASS FUNCOTATION=[KCNA2|hg19|chr1|111148080|111148080|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:111148080C>A|ENST00000369770.3|-|2|||||0.5386533665835411|TGAGATGCACCAACAGGCAGC|KCNA2_ENST00000485317.1_FIVE_PRIME_UTR/KCNA2_ENST00000316361.4_FIVE_PRIME_UTR/KCNA2_ENST00000440270.1_FIVE_PRIME_UTR/KCNA2_ENST00000525120.1_INTRON|Pancreas(18_%3B_568_%20_735_%20_10587_%20_23710_%20_36357)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||L02752|NM_001204269.1|NP_001191198.1|HGNC:6220|potassium_%20_voltage-gated_%20_channel_%20_subfamily_%20_A_%20_member_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"potassium_%20_voltage-gated_%20_channel_%2C__%20_shaker-related_%20_subfamily_%2C__%20_member_%20_2"|Kv1.2_%2C__%20_HK4||1p13.3|2016-10-05||2016-02-04|L02752||3737|ENSG00000177301|16382104|NM_004974|274|Potassium_%20_voltage-gated_%20_channels|CCDS827_%2C__%20_CCDS55625|OTTHUMG00000011567|3737|176262|NM_001204269|P16389|ENSG00000177301|uc057jgb.2|KCNA2_HUMAN|Dalfampridine(DB06637)|Q86XG6|P16389|optic_%20_nerve_%20_structural_%20_organization_%20_(GO:0021633)_%7C_potassium_%20_ion_%20_transport_%20_(GO:0006813)_%7C_protein_%20_homooligomerization_%20_(GO:0051260)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|juxtaparanode_%20_region_%20_of_%20_axon_%20_(GO:0044224)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_voltage-gated_%20_potassium_%20_channel_%20_complex_%20_(GO:0008076)|delayed_%20_rectifier_%20_potassium_%20_channel_%20_activity_%20_(GO:0005251)_%7C_outward_%20_rectifier_%20_potassium_%20_channel_%20_activity_%20_(GO:0015271)_%7C_potassium_%20_channel_%20_activity_%20_(GO:0005267)_%7C_voltage-gated_%20_potassium_%20_channel_%20_activity_%20_(GO:0005249)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 111415841 rs1494324 G A . PASS FUNCOTATION=[CD53|hg19|chr1|111415841|111415841|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:111415841G>A|ENST00000271324.5|+|1|||||0.4463840399002494|AAATTCTGCCGAAAGGACTGA|CD53_ENST00000429072.2_FIVE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M60871|NM_001040033.1|NP_001035122.1|HGNC:1686|CD53_%20_molecule|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MOX44|"CD53_%20_antigen"|TSPAN25||1p13.3|2016-10-05||2006-03-28|BC040693||963|ENSG00000143119|8319976|NM_000560|471_%7C_768|CD_%20_molecules_%7C_Tetraspanins|CCDS829|OTTHUMG00000048020|963|151525|NM_000560|P19397|ENSG00000143119|uc001dzx.4|CD53_HUMAN||B2R905_%7C_Q5U0D6|P19397|positive_%20_regulation_%20_of_%20_myoblast_%20_fusion_%20_(GO:1901741)_%7C_signal_%20_transduction_%20_(GO:0007165)|cell_%20_surface_%20_(GO:0009986)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_immunological_%20_synapse_%20_(GO:0001772)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 112042574 exm83930 A G . PASS FUNCOTATION=[ADORA3|hg19|chr1|112042574|112042574|NONSTOP||SNP|A|A|G|g.chr1:112042574A>G|ENST00000241356.4|-|2|1361|c.955T>C|c.(955-957)Tag>Cag|p.*319Q|0.4538653366583541|ATGGATAACTACTCAGAATTC|ADORA3_ENST00000369716.4_INTRON/ADORA3_ENST00000369717.4_INTRON|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||X76981|NM_000677.3|NP_000668.1|HGNC:268|adenosine_%20_A3_%20_receptor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||AD026||1p13.2|2017-03-24|||BC029831||140|ENSG00000282608|7607699|NM_000677_%2C__%20_NM_020683|211_%7C_590|Adenosine_%20_receptors_%7C_V-set_%20_domain_%20_containing|CCDS838_%2C__%20_CCDS839_%2C__%20_CCDS41369_%2C__%20_CCDS81358|OTTHUMG00000011957|140|600445|NM_000677|P0DMS8|ENSG00000282608|uc001ebh.5|AA3R_HUMAN|Adenosine(DB00640)_%7C_Aminophylline(DB01223)_%7C_Enprofylline(DB00824)|A2A3P4_%7C_Q6UWU0_%7C_Q9BYZ1|P33765|activation_%20_of_%20_adenylate_%20_cyclase_%20_activity_%20_(GO:0007190)_%7C_histamine_%20_secretion_%20_by_%20_mast_%20_cell_%20_(GO:0002553)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_positive_%20_regulation_%20_of_%20_calcium-mediated_%20_signaling_%20_(GO:0050850)_%7C_positive_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050729)_%7C_positive_%20_regulation_%20_of_%20_leukocyte_%20_migration_%20_(GO:0002687)_%7C_positive_%20_regulation_%20_of_%20_mast_%20_cell_%20_degranulation_%20_(GO:0043306)_%7C_positive_%20_regulation_%20_of_%20_mucus_%20_secretion_%20_(GO:0070257)_%7C_positive_%20_regulation_%20_of_%20_phosphatidylinositol_%20_3-kinase_%20_signaling_%20_(GO:0014068)_%7C_regulation_%20_of_%20_heart_%20_contraction_%20_(GO:0008016)_%7C_response_%20_to_%20_wounding_%20_(GO:0009611)_%7C_signal_%20_transduction_%20_(GO:0007165)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_mast_%20_cell_%20_granule_%20_(GO:0042629)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_adenosine_%20_receptor_%20_activity_%20_(GO:0001609)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 113010195 exm84380 T G . PASS FUNCOTATION=[WNT2B|hg19|chr1|113010195|113010195|DE_NOVO_START_OUT_FRAME||SNP|T|T|G|g.chr1:113010195T>G|ENST00000256640.5|+|1|||||0.36658354114713215|CCATAAGCATTTTTGGAATTC|WNT2B_ENST00000369686.5_MISSENSE_p.I12M|||||||||||||||||||||||||523|biliary_tract(2)_%7C_breast(186)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(134)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL354760|||HGNC:12781|Wnt_%20_family_%20_member_%20_2B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|WNT13|"wingless-type_%20_MMTV_%20_integration_%20_site_%20_family_%2C__%20_member_%20_2B"|XWNT2|"XWNT2_%2C__%20_Xenopus_%2C__%20_homolog_%20_of"_%2C__%20_"wingless-type_%20_MMTV_%20_integration_%20_site_%20_family_%2C__%20_member_%20_13"|1p13.2|2016-10-05||2016-03-18|AB045116||7482|ENSG00000134245|8761309_%2C__%20_10944466|NM_004185|360|Wnt_%20_family|CCDS847_%2C__%20_CCDS846_%2C__%20_CCDS76188|OTTHUMG00000011157|7482|601968|NM_001291880|Q93097|ENSG00000134245|uc001ecb.4|WNT2B_HUMAN||O14903_%7C_Q5TEH9_%7C_Q5TEI2_%7C_Q9HDC1_%7C_Q9HDC2|Q93097|canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0060070)_%7C_cell_%20_fate_%20_commitment_%20_(GO:0045165)_%7C_cellular_%20_response_%20_to_%20_starvation_%20_(GO:0009267)_%7C_chondrocyte_%20_differentiation_%20_(GO:0002062)_%7C_cornea_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0061303)_%7C_forebrain_%20_regionalization_%20_(GO:0021871)_%7C_hematopoietic_%20_stem_%20_cell_%20_proliferation_%20_(GO:0071425)_%7C_iris_%20_morphogenesis_%20_(GO:0061072)_%7C_lens_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0002088)_%7C_lung_%20_induction_%20_(GO:0060492)_%7C_male_%20_gonad_%20_development_%20_(GO:0008584)_%7C_mesenchymal-epithelial_%20_cell_%20_signaling_%20_(GO:0060638)_%7C_neuron_%20_differentiation_%20_(GO:0030182)_%7C_positive_%20_regulation_%20_of_%20_branching_%20_involved_%20_in_%20_ureteric_%20_bud_%20_morphogenesis_%20_(GO:0090190)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_proteinaceous_%20_extracellular_%20_matrix_%20_(GO:0005578)|frizzled_%20_binding_%20_(GO:0005109)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|WNT2B:7482|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|189656664|113010195|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|true|SNV|true|0x050000400a05040436000100|1|false|135|rs189656664|] +1 113248791 rs12144044 C A . PASS FUNCOTATION=[RHOC|hg19|chr1|113248791|113248791|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:113248791C>A|ENST00000285735.2|-|2|||||0.5760598503740648|GACAGTGTGGCTACATCAGAC|RHOC_ENST00000339083.7_INTRON/RHOC_ENST00000369642.3_INTRON/RHOC_ENST00000369633.2_INTRON/RHOC_ENST00000369638.2_INTRON/RHOC_ENST00000369632.2_INTRON/RHOC_ENST00000369637.1_INTRON/RP11-426L16.10_ENST00000606505.1_INTRON/RHOC_ENST00000369636.2_INTRON/RP11-426L16.10_ENST00000471038.2_INTRON|||||||||||||||||||||||||803|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(323)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||X06821|||HGNC:669|ras_%20_homolog_%20_family_%20_member_%20_C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ARH9_%2C__%20_ARHC|"ras_%20_homolog_%20_gene_%20_family_%2C__%20_member_%20_C"|RhoC||1p13.2|2016-10-05|2004-03-24|2012-02-27|BC052808||389|ENSG00000155366|3283705|NM_175744|390|Rho_%20_family_%20_GTPases|CCDS854|OTTHUMG00000011905|389|165380|NM_001042678|P08134|ENSG00000155366|uc001ecr.2|RHOC_HUMAN||B3KSW1_%7C_Q6ICN3|P08134|apical_%20_junction_%20_assembly_%20_(GO:0043297)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_cytokinesis_%20_(GO:0000910)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cleavage_%20_furrow_%20_(GO:0032154)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|GTP_%20_binding_%20_(GO:0005525)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 113498070 kgp6470243 G C . PASS FUNCOTATION=[SLC16A1|hg19|chr1|113498070|113498070|FIVE_PRIME_UTR||SNP|G|G|C|g.chr1:113498070G>C|ENST00000538576.1|-|1|||||0.5785536159600998|GGGCTGCCCCGTCCCCTCCGC|SLC16A1_ENST00000369626.3_INTRON/SLC16A1_ENST00000433570.4_FIVE_PRIME_UTR/SLC16A1_ENST00000478835.1_INTRON/RP11-31F15.1_ENST00000416193.1_FIVE_PRIME_FLANK/RP11-31F15.1_ENST00000420168.1_FIVE_PRIME_FLANK/RP11-31F15.1_ENST00000428411.1_FIVE_PRIME_FLANK/RP11-31F15.1_ENST00000435800.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||L31801|NM_001166496.1|NP_001159968.1|HGNC:10922|solute_%20_carrier_%20_family_%20_16_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_16_%20_(monocarboxylic_%20_acid_%20_transporters)_%2C__%20_member_%20_1"_%2C__%20_"solute_%20_carrier_%20_family_%20_16_%2C__%20_member_%20_1_%20_(monocarboxylic_%20_acid_%20_transporter_%20_1)"_%2C__%20_"solute_%20_carrier_%20_family_%20_16_%20_(monocarboxylate_%20_transporter)_%2C__%20_member_%20_1"|MCT_%2C__%20_MCT1||1p13.2|2016-10-05||2016-02-17|BC026317||6566|ENSG00000155380|8124722_%2C__%20_7835905|NM_003051|752|Solute_%20_carriers|CCDS858|OTTHUMG00000012129|6566|600682|NM_001166496|P53985|ENSG00000155380|uc001ecy.4|MOT1_HUMAN|Acetic_%20_acid(DB03166)_%7C_Aminohippurate(DB00345)_%7C_Ampicillin(DB00415)_%7C_Foscarnet(DB00529)_%7C_Gamma_%20_Hydroxybutyric_%20_Acid(DB01440)_%7C_Methotrexate(DB00563)_%7C_Nateglinide(DB00731)_%7C_Niacin(DB00627)_%7C_Niflumic_%20_Acid(DB04552)_%7C_Pravastatin(DB00175)_%7C_Probenecid(DB01032)_%7C_Pyruvic_%20_acid(DB00119)_%7C_Salicylic_%20_acid(DB00936)_%7C_Valproic_%20_Acid(DB00313)|Q49A45_%7C_Q5T8R6_%7C_Q9NSJ9|P53985|behavioral_%20_response_%20_to_%20_nutrient_%20_(GO:0051780)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_cellular_%20_response_%20_to_%20_organic_%20_cyclic_%20_compound_%20_(GO:0071407)_%7C_centrosome_%20_organization_%20_(GO:0051297)_%7C_glucose_%20_homeostasis_%20_(GO:0042593)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_lipid_%20_metabolic_%20_process_%20_(GO:0006629)_%7C_mevalonate_%20_transport_%20_(GO:0015728)_%7C_monocarboxylic_%20_acid_%20_transport_%20_(GO:0015718)_%7C_plasma_%20_membrane_%20_lactate_%20_transport_%20_(GO:0035879)_%7C_pyruvate_%20_metabolic_%20_process_%20_(GO:0006090)_%7C_regulation_%20_of_%20_insulin_%20_secretion_%20_(GO:0050796)_%7C_response_%20_to_%20_food_%20_(GO:0032094)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|centrosome_%20_(GO:0005813)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrion_%20_(GO:0005739)_%7C_plasma_%20_membrane_%20_(GO:0005886)|mevalonate_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015130)_%7C_monocarboxylic_%20_acid_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0008028)_%7C_organic_%20_cyclic_%20_compound_%20_binding_%20_(GO:0097159)_%7C_secondary_%20_active_%20_monocarboxylate_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015355)_%7C_symporter_%20_activity_%20_(GO:0015293)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 113498283 kgp2705500 A C . PASS FUNCOTATION=[SLC16A1|hg19|chr1|113498283|113498283|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:113498283A>C|ENST00000538576.1|-|1|||||0.6109725685785536|TACCACATGCAGCAGCCTCAT|SLC16A1_ENST00000369626.3_INTRON/SLC16A1_ENST00000433570.4_FIVE_PRIME_UTR/SLC16A1_ENST00000478835.1_INTRON/RP11-31F15.1_ENST00000416193.1_FIVE_PRIME_FLANK/RP11-31F15.1_ENST00000420168.1_FIVE_PRIME_FLANK/RP11-31F15.1_ENST00000428411.1_FIVE_PRIME_FLANK/RP11-31F15.1_ENST00000435800.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||L31801|NM_001166496.1|NP_001159968.1|HGNC:10922|solute_%20_carrier_%20_family_%20_16_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_16_%20_(monocarboxylic_%20_acid_%20_transporters)_%2C__%20_member_%20_1"_%2C__%20_"solute_%20_carrier_%20_family_%20_16_%2C__%20_member_%20_1_%20_(monocarboxylic_%20_acid_%20_transporter_%20_1)"_%2C__%20_"solute_%20_carrier_%20_family_%20_16_%20_(monocarboxylate_%20_transporter)_%2C__%20_member_%20_1"|MCT_%2C__%20_MCT1||1p13.2|2016-10-05||2016-02-17|BC026317||6566|ENSG00000155380|8124722_%2C__%20_7835905|NM_003051|752|Solute_%20_carriers|CCDS858|OTTHUMG00000012129|6566|600682|NM_001166496|P53985|ENSG00000155380|uc001ecy.4|MOT1_HUMAN|Acetic_%20_acid(DB03166)_%7C_Aminohippurate(DB00345)_%7C_Ampicillin(DB00415)_%7C_Foscarnet(DB00529)_%7C_Gamma_%20_Hydroxybutyric_%20_Acid(DB01440)_%7C_Methotrexate(DB00563)_%7C_Nateglinide(DB00731)_%7C_Niacin(DB00627)_%7C_Niflumic_%20_Acid(DB04552)_%7C_Pravastatin(DB00175)_%7C_Probenecid(DB01032)_%7C_Pyruvic_%20_acid(DB00119)_%7C_Salicylic_%20_acid(DB00936)_%7C_Valproic_%20_Acid(DB00313)|Q49A45_%7C_Q5T8R6_%7C_Q9NSJ9|P53985|behavioral_%20_response_%20_to_%20_nutrient_%20_(GO:0051780)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_cellular_%20_response_%20_to_%20_organic_%20_cyclic_%20_compound_%20_(GO:0071407)_%7C_centrosome_%20_organization_%20_(GO:0051297)_%7C_glucose_%20_homeostasis_%20_(GO:0042593)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_lipid_%20_metabolic_%20_process_%20_(GO:0006629)_%7C_mevalonate_%20_transport_%20_(GO:0015728)_%7C_monocarboxylic_%20_acid_%20_transport_%20_(GO:0015718)_%7C_plasma_%20_membrane_%20_lactate_%20_transport_%20_(GO:0035879)_%7C_pyruvate_%20_metabolic_%20_process_%20_(GO:0006090)_%7C_regulation_%20_of_%20_insulin_%20_secretion_%20_(GO:0050796)_%7C_response_%20_to_%20_food_%20_(GO:0032094)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|centrosome_%20_(GO:0005813)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrion_%20_(GO:0005739)_%7C_plasma_%20_membrane_%20_(GO:0005886)|mevalonate_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015130)_%7C_monocarboxylic_%20_acid_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0008028)_%7C_organic_%20_cyclic_%20_compound_%20_binding_%20_(GO:0097159)_%7C_secondary_%20_active_%20_monocarboxylate_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015355)_%7C_symporter_%20_activity_%20_(GO:0015293)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 114447565 exm2230834 G A . PASS FUNCOTATION=[AP4B1|hg19|chr1|114447565|114447565|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:114447565G>A|ENST00000369569.1|-|1|||||0.6309226932668329|AGGCCCTACCGTCGGCCGGCA|AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME/DCLRE1B_ENST00000369563.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369566.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369567.1_FIVE_PRIME_FLANK/DCLRE1B_ENST00000466480.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC014146|NM_001253852.1|NP_001240781.1|HGNC:572|adaptor_%20_related_%20_protein_%20_complex_%20_4_%20_beta_%20_1_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SPG47|"spastic_%20_paraplegia_%20_47"_%2C__%20_"adaptor-related_%20_protein_%20_complex_%20_4_%2C__%20_beta_%20_1_%20_subunit"|BETA-4|"beta_%20_4_%20_subunit_%20_of_%20_AP-4"_%2C__%20_"AP-4_%20_complex_%20_subunit_%20_beta-1"|1p13.2|2016-01-19||2016-01-12|AF092094||10717|ENSG00000134262|10066790|NM_006594|||CCDS865_%2C__%20_CCDS76192|OTTHUMG00000011943|10717|607245|NM_001253852|Q9Y6B7|ENSG00000134262|uc001eed.4|AP4B1_HUMAN||B7Z4X3_%7C_Q59EJ4_%7C_Q96CL6|Q9Y6B7|intracellular_%20_protein_%20_transport_%20_(GO:0006886)_%7C_vesicle-mediated_%20_transport_%20_(GO:0016192)|clathrin_%20_adaptor_%20_complex_%20_(GO:0030131)_%7C_coated_%20_pit_%20_(GO:0005905)_%7C_trans-Golgi_%20_network_%20_(GO:0005802)|protein_%20_transporter_%20_activity_%20_(GO:0008565)_%7C_transporter_%20_activity_%20_(GO:0005215)||||true|false|0.6705_%2C_0.3295|false|false|1||false|true|false|DCLRE1B:64858_%7C_AP4B1:10717|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1217397|114447565|true|false|0|true|0|false|0.586304_%2C_0.413696|false|false|true|SNV|true|0x0501004a000515053f000101|1|false|87|rs1217397|] +1 116384580 rs2797208 C T . PASS FUNCOTATION=[NHLH2|hg19|chr1|116384580|116384580|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:116384580C>T|ENST00000369506.1|-|1|||||0.3341645885286783|ACCAGTGTGTCCCAGTACATA|NHLH2_ENST00000320238.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M97508|||HGNC:7818|nescient_%20_helix-loop-helix_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HEN2|"nescient_%20_helix_%20_loop_%20_helix_%20_2"|NSCL2_%2C__%20_bHLHa34||1p13.1|2016-10-05||2015-11-11|||4808|ENSG00000177551|1528853|NM_005599|420|Basic_%20_helix-loop-helix_%20_proteins|CCDS885|OTTHUMG00000011969|4808|162361|NM_001111061|Q02577|ENSG00000177551|uc057jrm.1|HEN2_HUMAN||Q5T1P6|Q02577|cell_%20_differentiation_%20_(GO:0030154)_%7C_central_%20_nervous_%20_system_%20_development_%20_(GO:0007417)_%7C_mating_%20_behavior_%20_(GO:0007617)_%7C_ovulation_%20_cycle_%20_(GO:0042698)_%7C_positive_%20_regulation_%20_of_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0051091)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)|DNA_%20_binding_%20_(GO:0003677)_%7C_RNA_%20_polymerase_%20_II_%20_activating_%20_transcription_%20_factor_%20_binding_%20_(GO:0001102)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 116916056 seq_chr1_116916056 C T . PASS FUNCOTATION=[ATP1A1|hg19|chr1|116916056|116916056|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:116916056C>T|ENST00000295598.5|+|1|||||0.7630922693266833|CCCGCTCGCTCGGCCGGGAGC|AL136376.1_ENST00000598661.1_MISSENSE_p.R59Q/ATP1A1_ENST00000537345.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||1447|adrenal_gland(1356)_%7C_biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X04297|NM_000701.7|NP_000692.2|HGNC:799|ATPase_%20_Na+/K+_%20_transporting_%20_subunit_%20_alpha_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ATPase_%2C__%20_Na+/K+_%20_transporting_%2C__%20_alpha_%20_1_%20_polypeptide"||"sodium/potassium-transporting_%20_ATPase_%20_subunit_%20_alpha-1"_%2C__%20_"sodium_%20_pump_%20_subunit_%20_alpha-1"_%2C__%20_"sodium-potassium_%20_ATPase_%20_catalytic_%20_subunit_%20_alpha-1"|1p13.1|2016-10-05||2016-02-10|D00099|3.6.3.9|476|ENSG00000163399||NM_001160233|1208|ATPase_%20_Na+/K+_%20_transporting_%20_subunits|CCDS887_%2C__%20_CCDS53351_%2C__%20_CCDS53352|OTTHUMG00000012109|476|182310|NM_000701|P05023|ENSG00000163399|uc001ege.5|AT1A1_HUMAN|Acetyldigitoxin(DB00511)_%7C_Almitrine(DB01430)_%7C_Aluminium(DB01370)_%7C_Bepridil(DB01244)_%7C_Bretylium(DB01158)_%7C_Ciclopirox(DB01188)_%7C_Deslanoside(DB01078)_%7C_Diazoxide(DB01119)_%7C_Digitoxin(DB01396)_%7C_Digoxin(DB00390)_%7C_Ethacrynic_%20_acid(DB00903)_%7C_Hydroflumethiazide(DB00774)_%7C_Ouabain(DB01092)_%7C_Trichlormethiazide(DB01021)|B2RBR6_%7C_B7Z2T5_%7C_B7Z3U6_%7C_F5H3A1_%7C_Q16689_%7C_Q6LDM4_%7C_Q9UCN1_%7C_Q9UJ20_%7C_Q9UJ21|P05023|ATP_%20_biosynthetic_%20_process_%20_(GO:0006754)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_cell_%20_communication_%20_by_%20_electrical_%20_coupling_%20_involved_%20_in_%20_cardiac_%20_conduction_%20_(GO:0086064)_%7C_cellular_%20_potassium_%20_ion_%20_homeostasis_%20_(GO:0030007)_%7C_cellular_%20_response_%20_to_%20_mechanical_%20_stimulus_%20_(GO:0071260)_%7C_cellular_%20_response_%20_to_%20_steroid_%20_hormone_%20_stimulus_%20_(GO:0071383)_%7C_cellular_%20_sodium_%20_ion_%20_homeostasis_%20_(GO:0006883)_%7C_ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_membrane_%20_repolarization_%20_(GO:0086009)_%7C_membrane_%20_repolarization_%20_during_%20_cardiac_%20_muscle_%20_cell_%20_action_%20_potential_%20_(GO:0086013)_%7C_negative_%20_regulation_%20_of_%20_glucocorticoid_%20_biosynthetic_%20_process_%20_(GO:0031947)_%7C_negative_%20_regulation_%20_of_%20_heart_%20_contraction_%20_(GO:0045822)_%7C_positive_%20_regulation_%20_of_%20_heart_%20_contraction_%20_(GO:0045823)_%7C_positive_%20_regulation_%20_of_%20_striated_%20_muscle_%20_contraction_%20_(GO:0045989)_%7C_potassium_%20_ion_%20_import_%20_(GO:0010107)_%7C_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_regulation_%20_of_%20_cardiac_%20_muscle_%20_cell_%20_contraction_%20_(GO:0086004)_%7C_regulation_%20_of_%20_sodium_%20_ion_%20_transport_%20_(GO:0002028)_%7C_regulation_%20_of_%20_the_%20_force_%20_of_%20_heart_%20_contraction_%20_(GO:0002026)_%7C_relaxation_%20_of_%20_cardiac_%20_muscle_%20_(GO:0055119)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_sodium_%20_ion_%20_export_%20_from_%20_cell_%20_(GO:0036376)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_basolateral_%20_plasma_%20_membrane_%20_(GO:0016323)_%7C_caveola_%20_(GO:0005901)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_endosome_%20_(GO:0005768)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_sarcolemma_%20_(GO:0042383)_%7C_sodium:potassium-exchanging_%20_ATPase_%20_complex_%20_(GO:0005890)_%7C_T-tubule_%20_(GO:0030315)_%7C_vesicle_%20_(GO:0031982)|ADP_%20_binding_%20_(GO:0043531)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_chaperone_%20_binding_%20_(GO:0051087)_%7C_phosphatase_%20_activity_%20_(GO:0016791)_%7C_potassium_%20_ion_%20_binding_%20_(GO:0030955)_%7C_sodium_%20_ion_%20_binding_%20_(GO:0031402)_%7C_sodium:potassium-exchanging_%20_ATPase_%20_activity_%20_(GO:0005391)_%7C_steroid_%20_hormone_%20_binding_%20_(GO:1990239)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 120307172 indel.6031 A ATTGGCCTCCAGGGCCA . PASS FUNCOTATION=[HMGCS2|hg19|chr1|120307172|120307173|FRAME_SHIFT_INS||INS|-|-|TTGGCCTCCAGGGCCA|g.chr1:120307172_120307173insTTGGCCTCCAGGGCCA|ENST00000369406.3|-|2|232|c.181_182insTGGCCCTGGAGGCCAA|c.(181-183)gtcfs|p.Y62fs|0.4875|GGGAAGTAGACCTCCAGGGC|HMGCS2_ENST00000544913.2_FRAME_SHIFT_INS_p.Y62fs/HMGCS2_ENST00000476640.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X83618|NM_005518.3|NP_005509.1|HGNC:5008|3-hydroxy-3-methylglutaryl-CoA_%20_synthase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"3-hydroxy-3-methylglutaryl-Coenzyme_%20_A_%20_synthase_%20_2_%20_(mitochondrial)"_%2C__%20_"3-hydroxy-3-methylglutaryl-CoA_%20_synthase_%20_2_%20_(mitochondrial)"|||1p12|2017-03-24||2016-01-21|BC044217|2.3.3.10|3158|ENSG00000134240|7851882_%2C__%20_7893153|NM_005518|||CCDS905_%2C__%20_CCDS53353|OTTHUMG00000012101|3158|600234|NM_001166107|P54868|ENSG00000134240|uc001eid.4|HMCS2_HUMAN||B7Z8R3_%7C_D3Y5K6_%7C_Q5SZU2_%7C_Q6IBF4|P54868|cellular_%20_ketone_%20_body_%20_metabolic_%20_process_%20_(GO:0046950)_%7C_cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_cholesterol_%20_biosynthetic_%20_process_%20_(GO:0006695)_%7C_isoprenoid_%20_biosynthetic_%20_process_%20_(GO:0008299)_%7C_ketone_%20_body_%20_biosynthetic_%20_process_%20_(GO:0046951)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_mitochondrion_%20_(GO:0005739)|hydroxymethylglutaryl-CoA_%20_synthase_%20_activity_%20_(GO:0004421)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 144816621 exm89960 A G . PASS FUNCOTATION=[NBPF9|hg19|chr1|144816621|144816621|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:144816621A>G|ENST00000281815.8|+|5|||||0.4314214463840399|AGTCGACTCAACTCTCATTGG|NBPF9_ENST00000440491.2_MISSENSE_p.T252A/NBPF9_ENST00000338347.4_MISSENSE_p.T252A/NBPF9_ENST00000468645.1_INTRON|||||||||||||||||||||||||||||||||JQ388959|||HGNC:31991|NBPF_%20_member_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"neuroblastoma_%20_breakpoint_%20_family_%2C__%20_member_%20_9"|AE01||1q21.2|2017-03-01||2017-03-01|||400818|ENSG00000269713|16079250|NM_001037675|662|NBPF_%20_members|CCDS72895_%2C__%20_CCDS72896|OTTHUMG00000013845|400818|613999|NM_001037675|Q3BBW0|ENSG00000269713|uc057kjy.1|NBPF9_HUMAN|||Q3BBW0||cytoplasm_%20_(GO:0005737)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 146696658 indel.6227 CCTA C . PASS FUNCOTATION=[FMO5|hg19|chr1|146696659|146696661|FIVE_PRIME_UTR||DEL|CTA|CTA|-|g.chr1:146696659_146696661delCTA|ENST00000254090.4|-|2|||||0.49627791563275436|GTCGCCTGTCCTAAAGAAAGGAT|FMO5_ENST00000369272.3_FIVE_PRIME_UTR/FMO5_ENST00000441068.2_FIVE_PRIME_UTR/RP11-337C18.10_ENST00000606856.1_RNA/FMO5_ENST00000465173.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z47553|NM_001461.3|NP_001452.2|HGNC:3773|flavin_%20_containing_%20_monooxygenase_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q21.1|2015-09-11|||Z47553||2330|ENSG00000131781|8786146_%2C__%20_9119381|NM_001461|||CCDS926_%2C__%20_CCDS44209_%2C__%20_CCDS44210|OTTHUMG00000014607|2330|603957|NM_001144829|P49326|ENSG00000131781|uc001epi.4|FMO5_HUMAN||B2RBG1_%7C_C9JJD1_%7C_Q8IV22|P49326||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|flavin_%20_adenine_%20_dinucleotide_%20_binding_%20_(GO:0050660)_%7C_N_%2C_N-dimethylaniline_%20_monooxygenase_%20_activity_%20_(GO:0004499)_%7C_NADP_%20_binding_%20_(GO:0050661)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 147013362 rs10900376 A G . PASS FUNCOTATION=[BCL9|hg19|chr1|147013362|147013362|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:147013362A>G|ENST00000234739.3|+|1|||||0.5087281795511222|CAGGGATTGCAGGAAAAGGGT|||B-cell_%20_CLL/lymphoma_%20_9|607|1|1q21|yes||B-ALL|||L|Dom|T|"IGH@_%2C__%20_IGL@"|||||||||||1205|biliary_tract(2)_%7C_breast(206)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(85)_%7C_kidney(180)_%7C_large_intestine(94)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_stomach(121)_%7C_upper_aerodigestive_tract(192)|||||||Y13620|NM_004326.3|NP_004317.2|HGNC:1008|B-cell_%20_CLL/lymphoma_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q21.2|2016-10-05|||Y13620||607|ENSG00000116128|9490669|NM_004326|||CCDS30833|OTTHUMG00000014031|607|602597|NM_004326|O00512|ENSG00000116128|uc031uul.2|BCL9_HUMAN||Q5T489|O00512|canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0060070)_%7C_myotube_%20_differentiation_%20_involved_%20_in_%20_skeletal_%20_muscle_%20_regeneration_%20_(GO:0014908)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_skeletal_%20_muscle_%20_cell_%20_differentiation_%20_(GO:0035914)_%7C_somatic_%20_stem_%20_cell_%20_maintenance_%20_(GO:0035019)|cis-Golgi_%20_network_%20_(GO:0005801)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 148011761 indel.6269 T TGA . PASS FUNCOTATION=[NBPF14|hg19|chr1|148011761|148011762|FRAME_SHIFT_INS||INS|-|-|GA|g.chr1:148011761_148011762insGA|ENST00000369219.1|-|13|1501|c.1483_1484insTC|c.(1483-1485)aaafs|p.K495fs|0.44|CCCCTTCTTTTCTTCCCCTT||||||||||||||||||||||||||269|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(172)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(7)|||||||AL359176|||HGNC:25232|NBPF_%20_member_%20_14|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"neuroblastoma_%20_breakpoint_%20_family_%2C__%20_member_%20_14"|DJ328E19.C1.1||1q21.2|2017-03-01||2017-03-01|AK092351||25832|ENSG00000270629|8619474_%2C__%20_9110174_%2C__%20_16079250|NM_015383|662|NBPF_%20_members||OTTHUMG00000188198|25832|614003|NM_015383|Q5TI25|ENSG00000270629|uc057kib.1|NBPFE_HUMAN||Q5TI23_%7C_Q8IX76_%7C_Q9UJI9|Q5TI25||cytoplasm_%20_(GO:0005737)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 150039678 rs2027349 G A . PASS FUNCOTATION=[VPS45|hg19|chr1|150039678|150039678|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:150039678G>A|ENST00000369130.3|+|1|||||0.6209476309226932|GTGGAGAATAGCGCCCGCGCG|VPS45_ENST00000369128.5_INTRON/VPS45_ENST00000535106.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U35246|NM_007259.4|NP_009190.2|HGNC:14579|vacuolar_%20_protein_%20_sorting_%20_45_%20_homolog|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|VPS45B_%2C__%20_VPS45A|"vacuolar_%20_protein_%20_sorting_%20_45A_%20_(yeast_%20_homolog)"_%2C__%20_"vacuolar_%20_protein_%20_sorting_%20_45A_%20_(yeast)"_%2C__%20_"vacuolar_%20_protein_%20_sorting_%20_45_%20_homolog_%20_(S._%20_cerevisiae)"|h-vps45_%2C__%20_H1||1q21.2|2016-04-05|2006-12-19|2016-04-05|U35246||11311|ENSG00000136631|8996080|NM_007259|||CCDS944_%2C__%20_CCDS60244_%2C__%20_CCDS72904|OTTHUMG00000012511|11311|610035|NM_001279353|Q9NRW7|ENSG00000136631|uc001etp.5|VPS45_HUMAN||D3DUZ9_%7C_F5H8K1_%7C_Q15715_%7C_Q53FR8_%7C_Q5T4P6_%7C_Q9Y4Z6|Q9NRW7|blood_%20_coagulation_%20_(GO:0007596)_%7C_intracellular_%20_protein_%20_transport_%20_(GO:0006886)_%7C_vesicle_%20_docking_%20_involved_%20_in_%20_exocytosis_%20_(GO:0006904)|endosome_%20_membrane_%20_(GO:0010008)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_membrane_%20_(GO:0000139)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 150955582 exm95494 A G . PASS FUNCOTATION=[ANXA9|hg19|chr1|150955582|150955582|START_CODON_SNP||SNP|A|A|G|g.chr1:150955582A>G|ENST00000368947.4|+|3|477|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5685785536159601|CAGTAGCACCATGTCTGTGAC|ANXA9_ENST00000474997.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR536481|NM_003568.2|NP_003559.2|HGNC:547|annexin_%20_A9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ANX31||||1q21.3|2016-10-05|||AJ009985||8416|ENSG00000143412|9742942_%2C__%20_9931420|NM_003568|404|Annexins|CCDS975|OTTHUMG00000035063|8416|603319|NM_003568|O76027|ENSG00000143412|uc001ewa.3|ANXA9_HUMAN||Q5SZF1_%7C_Q6FI55_%7C_Q9BS00_%7C_Q9HBJ6|O76027|single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|cell_%20_surface_%20_(GO:0009986)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|acetylcholine_%20_receptor_%20_activity_%20_(GO:0015464)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_calcium-dependent_%20_phospholipid_%20_binding_%20_(GO:0005544)_%7C_phosphatidylserine_%20_binding_%20_(GO:0001786)_%7C_phospholipid_%20_binding_%20_(GO:0005543)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 150975108 exm95619 T C . PASS FUNCOTATION=[FAM63A|hg19|chr1|150975108|150975108|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:150975108T>C|ENST00000361936.5|-|3|||||0.5211970074812967|AAAAGGGACTTGGCTGAGGGG|FAM63A_ENST00000361738.6_MISSENSE_p.K44E/FAM63A_ENST00000312210.5_INTRON/FAM63A_ENST00000493834.2_INTRON/FAM63A_ENST00000470877.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471121|NM_018379.4|NP_060849.2||||||||||||||||||||||||||||||FA63A_HUMAN||B3KWP4_%7C_B3KWV8_%7C_B4DXF2_%7C_B4E1S4_%7C_D3DV09_%7C_J3KP53_%7C_Q5SZF0_%7C_Q9NUL9_%7C_Q9P2F7|Q8N5J2||extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 150975123 var_1_150975123 G A . PASS FUNCOTATION=[FAM63A|hg19|chr1|150975123|150975123|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:150975123G>A|ENST00000361936.5|-|3|||||0.516209476309227|GAGGGGCACTGAAGGTGTTTA|FAM63A_ENST00000361738.6_NONSENSE_p.Q39*/FAM63A_ENST00000312210.5_INTRON/FAM63A_ENST00000493834.2_INTRON/FAM63A_ENST00000470877.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471121|NM_018379.4|NP_060849.2||||||||||||||||||||||||||||||FA63A_HUMAN||B3KWP4_%7C_B3KWV8_%7C_B4DXF2_%7C_B4E1S4_%7C_D3DV09_%7C_J3KP53_%7C_Q5SZF0_%7C_Q9NUL9_%7C_Q9P2F7|Q8N5J2||extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 151138250 exm96069 G T . PASS FUNCOTATION=[LYSMD1|hg19|chr1|151138250|151138250|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:151138250G>T|ENST00000368908.5|-|1|||||0.5511221945137157|TCAAAGGTCCGCTCCGCATAA|LYSMD1_ENST00000440902.2_MISSENSE_p.S3R/SCNM1_ENST00000368905.4_FIVE_PRIME_FLANK/SCNM1_ENST00000461862.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BX647911|NM_212551.4|NP_997716.1|HGNC:32070|LysM_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"LysM_%2C__%20_putative_%20_peptidoglycan-binding_%2C__%20_domain_%20_containing_%20_1"|SB145_%2C__%20_MGC35223_%2C__%20_RP11-68I18.5||1q21.3|2016-10-05||2016-01-22|BX647911||388695|ENSG00000163155|12477932|NM_212551|||CCDS986_%2C__%20_CCDS44218|OTTHUMG00000012260|388695||NM_001136543|Q96S90|ENSG00000163155|uc001ewy.4|LYSM1_HUMAN||B4DQA1_%7C_Q69YX9|Q96S90|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 151372047 rs2296840 C T . PASS FUNCOTATION=[PSMB4|hg19|chr1|151372047|151372047|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:151372047C>T|ENST00000290541.6|+|1|||||0.5486284289276808|TTCATTTTTTCTGCTACCGTG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||S71381|NM_002796.2|NP_002787.2|HGNC:9541|proteasome_%20_subunit_%20_beta_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"proteasome_%20_(prosome_%2C__%20_macropain)_%20_subunit_%2C__%20_beta_%20_type_%2C__%20_4"|HN3_%2C__%20_PROS26||1q21.3|2016-10-05||2015-08-12|D26600||5692|ENSG00000159377|7918633|NM_002796|690|Proteasome|CCDS996|OTTHUMG00000012494|5692|602177|NM_002796|P28070|ENSG00000159377|uc001eyc.2|PSB4_HUMAN||B2R9L3_%7C_P31148_%7C_Q5SZS5_%7C_Q6IBI4_%7C_Q969L6|P28070|anaphase-promoting_%20_complex-dependent_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0031145)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_(GO:0042590)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%2C__%20_TAP-dependent_%20_(GO:0002479)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_(GO:0002474)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_DNA_%20_damage_%20_response_%2C__%20_signal_%20_transduction_%20_by_%20_p53_%20_class_%20_mediator_%20_resulting_%20_in_%20_cell_%20_cycle_%20_arrest_%20_(GO:0006977)_%7C_G1/S_%20_transition_%20_of_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0000082)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_mRNA_%20_metabolic_%20_process_%20_(GO:0016071)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_to_%20_antigenic_%20_stimulus_%20_(GO:0002862)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-protein_%20_ligase_%20_activity_%20_involved_%20_in_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0051436)_%7C_positive_%20_regulation_%20_of_%20_ubiquitin-protein_%20_ligase_%20_activity_%20_involved_%20_in_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0051437)_%7C_protein_%20_polyubiquitination_%20_(GO:0000209)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_regulation_%20_of_%20_cellular_%20_amino_%20_acid_%20_metabolic_%20_process_%20_(GO:0006521)_%7C_regulation_%20_of_%20_ubiquitin-protein_%20_ligase_%20_activity_%20_involved_%20_in_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0051439)_%7C_RNA_%20_metabolic_%20_process_%20_(GO:0016070)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_viral_%20_process_%20_(GO:0016032)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_proteasome_%20_complex_%20_(GO:0000502)_%7C_proteasome_%20_core_%20_complex_%20_(GO:0005839)|lipopolysaccharide_%20_binding_%20_(GO:0001530)_%7C_threonine-type_%20_endopeptidase_%20_activity_%20_(GO:0004298)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 151372065 exm1714112 T C . PASS FUNCOTATION=[PSMB4|hg19|chr1|151372065|151372065|START_CODON_SNP||SNP|T|T|C|g.chr1:151372065T>C|ENST00000290541.6|+|1|56|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.5610972568578554|GTGACTAAGATGGAAGCGTTT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||S71381|NM_002796.2|NP_002787.2|HGNC:9541|proteasome_%20_subunit_%20_beta_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"proteasome_%20_(prosome_%2C__%20_macropain)_%20_subunit_%2C__%20_beta_%20_type_%2C__%20_4"|HN3_%2C__%20_PROS26||1q21.3|2016-10-05||2015-08-12|D26600||5692|ENSG00000159377|7918633|NM_002796|690|Proteasome|CCDS996|OTTHUMG00000012494|5692|602177|NM_002796|P28070|ENSG00000159377|uc001eyc.2|PSB4_HUMAN||B2R9L3_%7C_P31148_%7C_Q5SZS5_%7C_Q6IBI4_%7C_Q969L6|P28070|anaphase-promoting_%20_complex-dependent_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0031145)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_(GO:0042590)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%2C__%20_TAP-dependent_%20_(GO:0002479)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_(GO:0002474)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_DNA_%20_damage_%20_response_%2C__%20_signal_%20_transduction_%20_by_%20_p53_%20_class_%20_mediator_%20_resulting_%20_in_%20_cell_%20_cycle_%20_arrest_%20_(GO:0006977)_%7C_G1/S_%20_transition_%20_of_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0000082)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_mRNA_%20_metabolic_%20_process_%20_(GO:0016071)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_to_%20_antigenic_%20_stimulus_%20_(GO:0002862)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-protein_%20_ligase_%20_activity_%20_involved_%20_in_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0051436)_%7C_positive_%20_regulation_%20_of_%20_ubiquitin-protein_%20_ligase_%20_activity_%20_involved_%20_in_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0051437)_%7C_protein_%20_polyubiquitination_%20_(GO:0000209)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_regulation_%20_of_%20_cellular_%20_amino_%20_acid_%20_metabolic_%20_process_%20_(GO:0006521)_%7C_regulation_%20_of_%20_ubiquitin-protein_%20_ligase_%20_activity_%20_involved_%20_in_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0051439)_%7C_RNA_%20_metabolic_%20_process_%20_(GO:0016070)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_viral_%20_process_%20_(GO:0016032)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_proteasome_%20_complex_%20_(GO:0000502)_%7C_proteasome_%20_core_%20_complex_%20_(GO:0005839)|lipopolysaccharide_%20_binding_%20_(GO:0001530)_%7C_threonine-type_%20_endopeptidase_%20_activity_%20_(GO:0004298)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 151739221 indel.6571 CT C . PASS FUNCOTATION=[OAZ3|hg19|chr1|151739222|151739222|FIVE_PRIME_UTR||DEL|T|T|-|g.chr1:151739222delT|ENST00000479764.1|+|1|||||0.456359102244389|GTGTCGCCCCTCTGTCTACTC|OAZ3_ENST00000453029.2_INTRON/OAZ3_ENST00000321531.5_INTRON/OAZ3_ENST00000400999.1_FIVE_PRIME_UTR/OAZ3_ENST00000315067.8_INTRON/MRPL9_ENST00000368829.3_FIVE_PRIME_FLANK/MRPL9_ENST00000368830.3_FIVE_PRIME_FLANK/RP11-98D18.16_ENST00000596133.1_RNA/RP11-98D18.3_ENST00000512280.1_RNA/OAZ3_ENST00000577465.1_INTRON/MRPL9_ENST00000467306.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||AL589765|||HGNC:8097|ornithine_%20_decarboxylase_%20_antizyme_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q21.3|2014-11-19|||AF175296||51686|ENSG00000143450|10781085|NM_016178|||CCDS58028_%2C__%20_CCDS76216_%2C__%20_CCDS81378|OTTHUMG00000013061|51686|605138|NM_001134939|Q9UMX2|ENSG00000143450|uc010pdl.4|OAZ3_HUMAN|L-Ornithine(DB00129)|E7EUE7_%7C_Q6GMR0|Q9UMX2|cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_negative_%20_regulation_%20_of_%20_catalytic_%20_activity_%20_(GO:0043086)_%7C_negative_%20_regulation_%20_of_%20_polyamine_%20_transmembrane_%20_transport_%20_(GO:1902268)_%7C_polyamine_%20_biosynthetic_%20_process_%20_(GO:0006596)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_catabolic_%20_process_%20_(GO:0045732)_%7C_putrescine_%20_transport_%20_(GO:0015847)_%7C_regulation_%20_of_%20_cellular_%20_amino_%20_acid_%20_metabolic_%20_process_%20_(GO:0006521)_%7C_regulation_%20_of_%20_phosphoprotein_%20_phosphatase_%20_activity_%20_(GO:0043666)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_spermatogenesis_%20_(GO:0007283)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)_%7C_sperm_%20_flagellum_%20_(GO:0036126)|ornithine_%20_decarboxylase_%20_inhibitor_%20_activity_%20_(GO:0008073)_%7C_putrescine_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015489)||||true|false||false|false|||false|false|false|OAZ3:51686|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|751011390|151739222|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|144|rs751011390|] +1 151739333 exm97447 C T . PASS FUNCOTATION=[OAZ3|hg19|chr1|151739333|151739333|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:151739333C>T|ENST00000479764.1|+|1|||||0.4239401496259352|GATCACTCTCCGGGAGAAGAT|OAZ3_ENST00000453029.2_INTRON/OAZ3_ENST00000321531.5_INTRON/OAZ3_ENST00000400999.1_FIVE_PRIME_UTR/OAZ3_ENST00000315067.8_INTRON/MRPL9_ENST00000368829.3_FIVE_PRIME_FLANK/MRPL9_ENST00000368830.3_FIVE_PRIME_FLANK/RP11-98D18.16_ENST00000596133.1_RNA/RP11-98D18.3_ENST00000512280.1_RNA/OAZ3_ENST00000577465.1_INTRON/MRPL9_ENST00000467306.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||AL589765|||HGNC:8097|ornithine_%20_decarboxylase_%20_antizyme_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q21.3|2014-11-19|||AF175296||51686|ENSG00000143450|10781085|NM_016178|||CCDS58028_%2C__%20_CCDS76216_%2C__%20_CCDS81378|OTTHUMG00000013061|51686|605138|NM_001134939|Q9UMX2|ENSG00000143450|uc010pdl.4|OAZ3_HUMAN|L-Ornithine(DB00129)|E7EUE7_%7C_Q6GMR0|Q9UMX2|cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_negative_%20_regulation_%20_of_%20_catalytic_%20_activity_%20_(GO:0043086)_%7C_negative_%20_regulation_%20_of_%20_polyamine_%20_transmembrane_%20_transport_%20_(GO:1902268)_%7C_polyamine_%20_biosynthetic_%20_process_%20_(GO:0006596)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_catabolic_%20_process_%20_(GO:0045732)_%7C_putrescine_%20_transport_%20_(GO:0015847)_%7C_regulation_%20_of_%20_cellular_%20_amino_%20_acid_%20_metabolic_%20_process_%20_(GO:0006521)_%7C_regulation_%20_of_%20_phosphoprotein_%20_phosphatase_%20_activity_%20_(GO:0043666)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_spermatogenesis_%20_(GO:0007283)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)_%7C_sperm_%20_flagellum_%20_(GO:0036126)|ornithine_%20_decarboxylase_%20_inhibitor_%20_activity_%20_(GO:0008073)_%7C_putrescine_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015489)||||true|false||false|false|||false|false|false|OAZ3:51686|false|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|188726350|151739333|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000080a05040416000100|1|false|135|rs188726350|] +1 151739679 exm97451 C A . PASS FUNCOTATION=[OAZ3|hg19|chr1|151739679|151739679|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:151739679C>A|ENST00000479764.1|+|2|||||0.48877805486284287|ACTCCAGCCCCGTTCCTGCCT|OAZ3_ENST00000453029.2_MISSENSE_p.R38S/OAZ3_ENST00000321531.5_MISSENSE_p.R25S/OAZ3_ENST00000400999.1_FIVE_PRIME_UTR/OAZ3_ENST00000315067.8_MISSENSE_p.R25S/MRPL9_ENST00000368829.3_FIVE_PRIME_FLANK/MRPL9_ENST00000368830.3_FIVE_PRIME_FLANK/RP11-98D18.3_ENST00000512280.1_RNA/OAZ3_ENST00000577465.1_INTRON/MRPL9_ENST00000467306.1_FIVE_PRIME_FLANK/RP11-98D18.16_ENST00000596133.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||AL589765|||HGNC:8097|ornithine_%20_decarboxylase_%20_antizyme_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q21.3|2014-11-19|||AF175296||51686|ENSG00000143450|10781085|NM_016178|||CCDS58028_%2C__%20_CCDS76216_%2C__%20_CCDS81378|OTTHUMG00000013061|51686|605138|NM_001134939|Q9UMX2|ENSG00000143450|uc010pdl.4|OAZ3_HUMAN|L-Ornithine(DB00129)|E7EUE7_%7C_Q6GMR0|Q9UMX2|cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_negative_%20_regulation_%20_of_%20_catalytic_%20_activity_%20_(GO:0043086)_%7C_negative_%20_regulation_%20_of_%20_polyamine_%20_transmembrane_%20_transport_%20_(GO:1902268)_%7C_polyamine_%20_biosynthetic_%20_process_%20_(GO:0006596)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_catabolic_%20_process_%20_(GO:0045732)_%7C_putrescine_%20_transport_%20_(GO:0015847)_%7C_regulation_%20_of_%20_cellular_%20_amino_%20_acid_%20_metabolic_%20_process_%20_(GO:0006521)_%7C_regulation_%20_of_%20_phosphoprotein_%20_phosphatase_%20_activity_%20_(GO:0043666)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_spermatogenesis_%20_(GO:0007283)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)_%7C_sperm_%20_flagellum_%20_(GO:0036126)|ornithine_%20_decarboxylase_%20_inhibitor_%20_activity_%20_(GO:0008073)_%7C_putrescine_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015489)||||true|false||false|false|||false|false|false|OAZ3:51686|false|true|false|false|false|false|false|false|false|true|false|true|false|false|false|false|false|false|false|true|201902593|151739679|false|false|0|false|0|false|0.999931_%2C_3.4343e-005_%2C_._%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040402000104|1|false|137|rs201902593|] +1 152275177 exm2249939 T C . PASS FUNCOTATION=[FLG|hg19|chr1|152275177|152275177|SILENT||SNP|T|T|C|g.chr1:152275177T>C|ENST00000368799.1|-|3|12221|c.12185A>G|c.(12184-12186)tAa>tGa|p.*4062*|0.32169576059850374|ATTAATTTCTTACTCATAGTA|FLG-AS1_ENST00000420707.1_RNA/FLG-AS1_ENST00000593011.1_RNA|||||||||||||||||||||||||678|biliary_tract(27)_%7C_breast(13)_%7C_central_nervous_system(44)_%7C_genital_tract(91)_%7C_large_intestine(175)_%7C_lung(5)_%7C_pancreas(134)_%7C_testis(65)_%7C_upper_aerodigestive_tract(124)||||Ichthyosis|X-linked_%20_Ichthyosis_%2C__%20_Steroid_%20_Sulfatase_%20_Deficiency_%2C__%20_Ichthyosis_%20_Vulgaris|Familial_%20_Cancer_%20_Database|M24355|NM_002016.1|NP_002007.1|HGNC:3748|filaggrin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q21.3|2017-03-24|||XM_048104||2312|ENSG00000143631|2740331_%2C__%20_2248957_%2C__%20_16444271|NM_002016|1350_%7C_863|S100_%20_fused_%20_type_%20_protein_%20_family_%7C_EF-hand_%20_domain_%20_containing|CCDS30860|OTTHUMG00000012202|2312|135940|NM_002016|P20930|ENSG00000143631|uc001ezu.1|FILA_HUMAN||Q01720_%7C_Q5T583_%7C_Q9UC71|P20930|establishment_%20_of_%20_skin_%20_barrier_%20_(GO:0061436)_%7C_keratinocyte_%20_differentiation_%20_(GO:0030216)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)|cytoplasmic_%20_membrane-bounded_%20_vesicle_%20_(GO:0016023)_%7C_intermediate_%20_filament_%20_(GO:0005882)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_structural_%20_molecule_%20_activity_%20_(GO:0005198)||||true|false||false|false|||false|false|false|FLG:2312|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|139645876|152275177|false|false|0|false|0|true|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000305040402000100|1|false|134|rs139645876|] +1 152323087 exm100586 C G . PASS FUNCOTATION=[FLG2|hg19|chr1|152323087|152323087|NONSTOP||SNP|C|C|G|g.chr1:152323087C>G|ENST00000388718.5|-|3|7248|c.7175G>C|c.(7174-7176)tGa>tCa|p.*2392S|0.3940149625935162|AAATAACTGTCAATGTCTAGA|FLG-AS1_ENST00000392688.2_RNA/FLG-AS1_ENST00000445097.1_RNA|||||||||||||||||||||||||256|biliary_tract(2)_%7C_breast(33)_%7C_central_nervous_system(44)_%7C_large_intestine(35)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||DQ118293|NM_001014342.2|NP_001014364.1|HGNC:33276|filaggrin_%20_family_%20_member_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||IFPS||1q21.3|2015-09-11|||AY827490||388698|ENSG00000143520|19384417|NM_001014342|1350_%7C_863|S100_%20_fused_%20_type_%20_protein_%20_family_%7C_EF-hand_%20_domain_%20_containing|CCDS30861|OTTHUMG00000012245|388698|616284|NM_001014342|Q5D862|ENSG00000143520|uc001ezw.5|FILA2_HUMAN||Q9H4U1|Q5D862|establishment_%20_of_%20_skin_%20_barrier_%20_(GO:0061436)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_structural_%20_molecule_%20_activity_%20_(GO:0005198)||||true|false|0.997_%2C_0.002995|false|false|1||false|false|false|FLG2:388698_%7C_FLG-AS1:339400|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|150529054|152323087|false|false|0|false|0|false|0.997321_%2C_0.00267876|false|false|false|SNV|true|0x050000080205040436000100|1|false|134|rs150529054|] +1 152324500 indel.6754 G GC . PASS FUNCOTATION=[FLG2|hg19|chr1|152324500|152324501|FRAME_SHIFT_INS||INS|-|-|C|g.chr1:152324500_152324501insC|ENST00000388718.5|-|3|5835|c.5761_5762insG|c.(5761-5763)actfs|p.T1921fs|0.5175|CCATGAGTAGTTTGGTGTCT|FLG-AS1_ENST00000392688.2_RNA/FLG-AS1_ENST00000445097.1_RNA|||||||||||||||||||||||||256|biliary_tract(2)_%7C_breast(33)_%7C_central_nervous_system(44)_%7C_large_intestine(35)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||DQ118293|NM_001014342.2|NP_001014364.1|HGNC:33276|filaggrin_%20_family_%20_member_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||IFPS||1q21.3|2015-09-11|||AY827490||388698|ENSG00000143520|19384417|NM_001014342|1350_%7C_863|S100_%20_fused_%20_type_%20_protein_%20_family_%7C_EF-hand_%20_domain_%20_containing|CCDS30861|OTTHUMG00000012245|388698|616284|NM_001014342|Q5D862|ENSG00000143520|uc001ezw.5|FILA2_HUMAN||Q9H4U1|Q5D862|establishment_%20_of_%20_skin_%20_barrier_%20_(GO:0061436)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_structural_%20_molecule_%20_activity_%20_(GO:0005198)||||true|false||false|false|||false|false|false|FLG2:388698_%7C_FLG-AS1:339400|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|760715355|152324500|false|false|0|false|0|false||false|false|false|DIV|true|0x050000081205040402000200|1|false|144|rs760715355|] +1 152681553 exm101273 T A . PASS FUNCOTATION=[LCE4A|hg19|chr1|152681553|152681553|START_CODON_SNP||SNP|T|T|A|g.chr1:152681553T>A|ENST00000368777.1|+|2|258|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.4538653366583541|TCCACCAAGATGTCCTGCCAG|LCE4A_ENST00000335535.3_START_CODON_SNP_p.M1K|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(12)_%7C_pancreas(22)|||||||BC113448|||HGNC:16613|late_%20_cornified_%20_envelope_%20_4A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SPRL4A|"small_%20_proline_%20_rich-like_%20_(epidermal_%20_differentiation_%20_complex)_%20_4A"|LEP8||1q21.3|2016-10-05|2004-10-15|2004-10-11|BI670517||199834|ENSG00000187170|11698679|NM_178356|627|Late_%20_cornified_%20_envelope_%20_proteins|CCDS1022|OTTHUMG00000014394|199834|612618|NM_178356|Q5TA78|ENSG00000187170|uc057lag.1|LCE4A_HUMAN||Q14D97|Q5TA78|keratinization_%20_(GO:0031424)||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 152944369 exm101772 G A . PASS FUNCOTATION=[SPRR4|hg19|chr1|152944369|152944369|START_CODON_SNP||SNP|G|G|A|g.chr1:152944369G>A|ENST00000328051.2|+|2|52|c.3G>A|c.(1-3)atG>atA|p.M1I|0.5062344139650873|CTAGAGCAATGTCTTCCCAGC||||||||||||||||||||||||||68|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC112172|NM_173080.1|NP_775103.1|HGNC:23173|small_%20_proline_%20_rich_%20_protein_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"small_%20_proline-rich_%20_protein_%20_4"|||1q21.3|2016-01-25||2016-01-25|AF335109||163778|ENSG00000184148|11719550_%2C__%20_11279051|NM_173080|1353|Small_%20_proline_%20_rich_%20_proteins|CCDS1031|OTTHUMG00000012450|163778|616363|NM_173080|Q96PI1|ENSG00000184148|uc001fav.2|SPRR4_HUMAN||Q2M1Y7_%7C_Q5T522|Q96PI1|keratinization_%20_(GO:0031424)_%7C_peptide_%20_cross-linking_%20_(GO:0018149)|cytoplasm_%20_(GO:0005737)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 153122367 exm101949 A G . PASS FUNCOTATION=[SPRR2G|hg19|chr1|153122367|153122367|NONSTOP||SNP|A|A|G|g.chr1:153122367A>G|ENST00000368748.4|-|2|259|c.220T>C|c.(220-222)Taa>Caa|p.*74Q|0.5411471321695761|TAGTGATGTTACTTGCTCTTG||||||||||||||||||||||||||68|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL157405|NM_001014291.3|NP_001014313.1|HGNC:11267|small_%20_proline_%20_rich_%20_protein_%20_2G|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"small_%20_proline-rich_%20_protein_%20_2G"|||1q21.3|2017-03-31||2016-01-25|AF333957||6706|ENSG00000159516|8325635_%2C__%20_11279051||1353|Small_%20_proline_%20_rich_%20_proteins|CCDS30868|OTTHUMG00000014399|6706|617590|NM_001014291|Q9BYE4|ENSG00000159516|uc009wod.3|SPR2G_HUMAN|||Q9BYE4|epidermis_%20_development_%20_(GO:0008544)_%7C_keratinization_%20_(GO:0031424)_%7C_keratinocyte_%20_differentiation_%20_(GO:0030216)|cornified_%20_envelope_%20_(GO:0001533)_%7C_cytoplasm_%20_(GO:0005737)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 153177184 exm101965 A G . PASS FUNCOTATION=[LELP1|hg19|chr1|153177184|153177184|START_CODON_SNP||SNP|A|A|G|g.chr1:153177184A>G|ENST00000368747.1|+|2|111|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.46384039900249374|TCAAGAAACAATGTCGAGTGA||||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC130511|NM_001010857.2|NP_001010857.1|HGNC:32046|late_%20_cornified_%20_envelope_%20_like_%20_proline_%20_rich_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q21.3|2016-04-06||2016-04-06|||149018|ENSG00000203784||NM_001010857|||CCDS30869|OTTHUMG00000013935|149018|611042|NM_001010857|Q5T871|ENSG00000203784|uc001fbl.5|LELP1_HUMAN||A1L4E1|Q5T871|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 153390542 exm102219 G C . PASS FUNCOTATION=[S100A7A|hg19|chr1|153390542|153390542|FIVE_PRIME_UTR||SNP|G|G|C|g.chr1:153390542G>C|ENST00000368729.4|+|2|||||0.4538653366583541|TTTCCTGAAGGCTTTTTGAAA|S100A7A_ENST00000329256.2_FIVE_PRIME_UTR/S100A7A_ENST00000368728.2_FIVE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471121|NM_176823.3|NP_789793.1|HGNC:21657|S100_%20_calcium_%20_binding_%20_protein_%20_A7A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|S100A15_%2C__%20_S100A7L1|"S100_%20_calcium_%20_binding_%20_protein_%20_A15"_%2C__%20_"S100_%20_calcium_%20_binding_%20_protein_%20_A7-like_%20_1"|S100A7f||1q21.3|2016-10-05|2006-09-11|2006-09-11|AY189118||338324|ENSG00000184330|11230159|NM_176823|459_%7C_863|S100_%20_calcium_%20_binding_%20_proteins_%7C_EF-hand_%20_domain_%20_containing|CCDS30872|OTTHUMG00000013122|338324|617427|NM_176823|Q86SG5|ENSG00000184330|uc001fbt.1|S1A7A_HUMAN||D3DV38_%7C_Q5SY69|Q86SG5||cytoplasm_%20_(GO:0005737)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein_%20_self-association_%20_(GO:0043621)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 153431505 exm1715554 G T . PASS FUNCOTATION=[S100A7|hg19|chr1|153431505|153431505|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:153431505G>T|ENST00000368723.3|-|2|||||0.4339152119700748|CTTTCAAAAAGCCTTCAGGAA|S100A7_ENST00000368722.1_FIVE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M86757|NM_002963.3|NP_002954.2|HGNC:10497|S100_%20_calcium_%20_binding_%20_protein_%20_A7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PSOR1|"S100_%20_calcium-binding_%20_protein_%20_A7_%20_(psoriasin_%20_1)"_%2C__%20_"S100_%20_calcium_%20_binding_%20_protein_%20_A7_%20_(psoriasin_%20_1)"|S100A7c||1q21.3|2016-10-05||2006-09-11|BC034687||6278|ENSG00000143556|1940442|NM_002963|459_%7C_863|S100_%20_calcium_%20_binding_%20_proteins_%7C_EF-hand_%20_domain_%20_containing|CCDS1039|OTTHUMG00000013123|6278|600353|NM_002963|P31151|ENSG00000143556|uc001fbv.2|S10A7_HUMAN||Q5SY67_%7C_Q6FGE3_%7C_Q9H1E2|P31151|angiogenesis_%20_(GO:0001525)_%7C_defense_%20_response_%20_to_%20_Gram-negative_%20_bacterium_%20_(GO:0050829)_%7C_epidermis_%20_development_%20_(GO:0008544)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_keratinocyte_%20_differentiation_%20_(GO:0030216)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_granulocyte_%20_chemotaxis_%20_(GO:0071624)_%7C_positive_%20_regulation_%20_of_%20_monocyte_%20_chemotaxis_%20_(GO:0090026)_%7C_positive_%20_regulation_%20_of_%20_T_%20_cell_%20_chemotaxis_%20_(GO:0010820)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)_%7C_response_%20_to_%20_reactive_%20_oxygen_%20_species_%20_(GO:0000302)_%7C_sequestering_%20_of_%20_metal_%20_ion_%20_(GO:0051238)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_RAGE_%20_receptor_%20_binding_%20_(GO:0050786)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 153514241 exm2231338 A C . PASS FUNCOTATION=[S100A5|hg19|chr1|153514241|153514241|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:153514241A>C|ENST00000368718.1|-|1|||||0.4912718204488778|GAAGTGTGGGACAAACACAGG|S100A5_ENST00000359215.1_FIVE_PRIME_UTR/S100A5_ENST00000368717.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z18954|NM_002962.1|NP_002953.2|HGNC:10495|S100_%20_calcium_%20_binding_%20_protein_%20_A5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|S100D|"S100_%20_calcium-binding_%20_protein_%20_A5"|||1q21.3|2016-10-05||2001-11-28|Z18954||6276|ENSG00000196420|8341667|NM_002962|459_%7C_863|S100_%20_calcium_%20_binding_%20_proteins_%7C_EF-hand_%20_domain_%20_containing|CCDS1041|OTTHUMG00000013547|6276|176991|NM_002962|P33763|ENSG00000196420|uc001fbx.3|S10A5_HUMAN||Q52LE7_%7C_Q5RHS3|P33763||neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_copper_%20_ion_%20_binding_%20_(GO:0005507)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 153517519 rs11488669 G A . PASS FUNCOTATION=[S100A4|hg19|chr1|153517519|153517519|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:153517519G>A|ENST00000368715.1|-|1|||||0.6109725685785536|CTGGAGATTCGGGCAGCAAAC|S100A4_ENST00000368716.4_INTRON/S100A4_ENST00000354332.4_INTRON/S100A4_ENST00000368714.1_INTRON/S100A5_ENST00000359215.1_FIVE_PRIME_FLANK/S100A5_ENST00000368717.2_FIVE_PRIME_FLANK/S100A5_ENST00000368718.1_FIVE_PRIME_FLANK/S100A4_ENST00000481009.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z33457|||HGNC:10494|S100_%20_calcium_%20_binding_%20_protein_%20_A4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTS1_%2C__%20_CAPL|"S100_%20_calcium-binding_%20_protein_%20_A4_%20_(calcium_%20_protein_%2C__%20_calvasculin_%2C__%20_metastasin_%2C__%20_murine_%20_placental_%20_homolog)"_%2C__%20_"S100_%20_calcium_%20_binding_%20_protein_%20_A4_%20_(calcium_%20_protein_%2C__%20_calvasculin_%2C__%20_metastasin_%2C__%20_murine_%20_placental_%20_homolog)"|P9KA_%2C__%20_18A2_%2C__%20_PEL98_%2C__%20_42A_%2C__%20_FSP1|"fibroblast-specific_%20_protein-1"|1q21.3|2016-10-05||2006-09-11|BC016300||6275|ENSG00000196154|3155863|NM_002961|459_%7C_863|S100_%20_calcium_%20_binding_%20_proteins_%7C_EF-hand_%20_domain_%20_containing|CCDS1042|OTTHUMG00000013546|6275|114210|NM_002961|P26447|ENSG00000196154|uc057lbo.1|S10A4_HUMAN|Trifluoperazine(DB00831)|A8K7R8_%7C_D3DV46_%7C_Q6ICP8|P26447|epithelial_%20_to_%20_mesenchymal_%20_transition_%20_(GO:0001837)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)|extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_neuron_%20_projection_%20_(GO:0043005)_%7C_nucleus_%20_(GO:0005634)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_RAGE_%20_receptor_%20_binding_%20_(GO:0050786)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 153580653 exm1715597 C A . PASS FUNCOTATION=[S100A16|hg19|chr1|153580653|153580653|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:153580653C>A|ENST00000368704.1|-|2|||||0.571072319201995|GCTGGCGGGGCCTGGACACCA|S100A16_ENST00000368706.4_FIVE_PRIME_UTR/S100A16_ENST00000368705.2_FIVE_PRIME_UTR/S100A16_ENST00000368703.2_FIVE_PRIME_UTR/S100A16_ENST00000474991.1_SPLICE_SITE|Melanoma(71_%3B_1388_%20_1729_%20_37039_%20_46098)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471121|||HGNC:20441|S100_%20_calcium_%20_binding_%20_protein_%20_A16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||S100F_%2C__%20_DT1P1A7_%2C__%20_MGC17528||1q21.3|2016-10-05|||BC010541||140576|ENSG00000188643|9417904|NM_080388|459_%7C_863|S100_%20_calcium_%20_binding_%20_proteins_%7C_EF-hand_%20_domain_%20_containing|CCDS1045|OTTHUMG00000013545|140576|617437|NM_001317007|Q96FQ6|ENSG00000188643|uc001fcd.2|S10AG_HUMAN||A8K439_%7C_D3DV52_%7C_Q5RHS6|Q96FQ6|response_%20_to_%20_calcium_%20_ion_%20_(GO:0051592)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleolus_%20_(GO:0005730)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 153604519 rs3818632 G A . PASS FUNCOTATION=[S100A13|hg19|chr1|153604519|153604519|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:153604519G>A|ENST00000368699.1|-|2|||||0.5411471321695761|CCAGCCATCCGATGTCTGTCT|S100A13_ENST00000339556.4_FIVE_PRIME_FLANK/CHTOP_ENST00000368690.3_FIVE_PRIME_FLANK/CHTOP_ENST00000368694.3_FIVE_PRIME_FLANK/S100A13_ENST00000392622.1_FIVE_PRIME_FLANK/S100A13_ENST00000392623.1_FIVE_PRIME_FLANK/CHTOP_ENST00000403433.1_FIVE_PRIME_FLANK/S100A13_ENST00000440685.2_FIVE_PRIME_FLANK/RP1-178F15.4_ENST00000469931.2_RNA/RP1-178F15.5_ENST00000497086.1_RNA/RP1-178F15.4_ENST00000607839.1_RNA/S100A13_ENST00000491177.1_FIVE_PRIME_FLANK/CHTOP_ENST00000495554.1_FIVE_PRIME_FLANK|NSCLC(156_%3B_1296_%20_1989_%20_17590_%20_30930_%20_49554)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X99920|NM_001024210.1|NP_001019382.1|HGNC:10490|S100_%20_calcium_%20_binding_%20_protein_%20_A13|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"S100_%20_calcium-binding_%20_protein_%20_A13"|||1q21.3|2016-10-05||2001-11-28|AK097132||6284|ENSG00000189171|8985590|NM_005979|459|S100_%20_calcium_%20_binding_%20_proteins|CCDS30874|OTTHUMG00000036641|6284|601989|NM_001024210|Q99584|ENSG00000189171|uc057lce.1|S10AD_HUMAN|Amlexanox(DB01025)_%7C_Olopatadine(DB00768)|Q52PI9_%7C_Q6FGF8|Q99584|cytokine_%20_secretion_%20_(GO:0050663)_%7C_interleukin-1_%20_alpha_%20_secretion_%20_(GO:0050703)_%7C_mast_%20_cell_%20_degranulation_%20_(GO:0043303)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_regulation_%20_of_%20_cell_%20_shape_%20_(GO:0008360)_%7C_response_%20_to_%20_copper_%20_ion_%20_(GO:0046688)_%7C_response_%20_to_%20_electrical_%20_stimulus_%20_(GO:0051602)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mast_%20_cell_%20_granule_%20_(GO:0042629)_%7C_nucleus_%20_(GO:0005634)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_copper_%20_ion_%20_binding_%20_(GO:0005507)_%7C_fibroblast_%20_growth_%20_factor_%20_binding_%20_(GO:0017134)_%7C_lipid_%20_binding_%20_(GO:0008289)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_RAGE_%20_receptor_%20_binding_%20_(GO:0050786)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 153752478 exm103036 A G . PASS FUNCOTATION=[SLC27A3|hg19|chr1|153752478|153752478|NONSTOP||SNP|A|A|G|g.chr1:153752478A>G|ENST00000271857.2|+|10|3196|c.2436A>G|c.(2434-2436)tgA>tgG|p.*812W|0.5386533665835411|TTCGAATCTGAGAACTTCCAC|SLC27A3_ENST00000368661.3_NONSTOP_p.*731W/SLC27A3_ENST00000484014.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC029792|||HGNC:10997|solute_%20_carrier_%20_family_%20_27_%20_member_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_27_%20_(fatty_%20_acid_%20_transporter)_%2C__%20_member_%20_3"|FATP3_%2C__%20_MGC4365_%2C__%20_ACSVL3||1q21.3|2016-10-05||2016-02-17|BC009916||11000|ENSG00000143554|9671728|NM_024330|752_%7C_40|Solute_%20_carriers_%7C_Acyl-CoA_%20_synthetase_%20_family|CCDS1053|OTTHUMG00000037155|11000|604193|NM_001317929|Q5K4L6|ENSG00000143554|uc001fcz.3|S27A3_HUMAN||Q5VUQ7_%7C_Q5VUQ8_%7C_Q5VUR3_%7C_Q6ZV16_%7C_Q8N2X7_%7C_Q8TEJ0_%7C_Q96SW5_%7C_Q9BTJ5_%7C_Q9BTY5|Q5K4L6|fatty_%20_acid_%20_metabolic_%20_process_%20_(GO:0006631)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrion_%20_(GO:0005739)|fatty-acyl-CoA_%20_synthase_%20_activity_%20_(GO:0004321)_%7C_ligase_%20_activity_%20_(GO:0016874)_%7C_nucleotide_%20_binding_%20_(GO:0000166)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 153935543 rs2072704 G A . PASS FUNCOTATION=[SLC39A1|hg19|chr1|153935543|153935543|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:153935543G>A|ENST00000368623.3|-|1|||||0.5511221945137157|ACCTGGAGCTGGAGTTCCCCT|SLC39A1_ENST00000368621.1_FIVE_PRIME_UTR/SLC39A1_ENST00000310483.6_INTRON/SLC39A1_ENST00000356205.4_INTRON/SLC39A1_ENST00000537590.1_INTRON/CREB3L4_ENST00000271889.4_FIVE_PRIME_FLANK/CREB3L4_ENST00000368607.3_FIVE_PRIME_FLANK/CRTC2_ENST00000368630.3_FIVE_PRIME_FLANK/CRTC2_ENST00000368633.1_FIVE_PRIME_FLANK/CREB3L4_ENST00000405694.3_FIVE_PRIME_FLANK/SLC39A1_ENST00000461071.1_INTRON/CRTC2_ENST00000476883.1_FIVE_PRIME_FLANK/RP11-422P24.10_ENST00000608147.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471121|||HGNC:12876|solute_%20_carrier_%20_family_%20_39_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZIRTL|"zinc/iron_%20_regulated_%20_transporter-like"_%2C__%20_"solute_%20_carrier_%20_family_%20_39_%20_(zinc_%20_transporter)_%2C__%20_member_%20_1"|ZIP1||1q21.3|2016-10-05|2002-02-15|2016-02-17|BC007886||27173|ENSG00000143570|10610721_%2C__%20_10681536|NM_014437|752|Solute_%20_carriers|CCDS1055_%2C__%20_CCDS72920|OTTHUMG00000037158|27173|604740|NM_001271957|Q9NY26|ENSG00000143570|uc031ppi.1|S39A1_HUMAN||B4DDY7_%7C_Q5T4K1_%7C_Q8N2H7_%7C_Q9BTV0_%7C_Q9UBI7_%7C_Q9Y2Z7_%7C_Q9Y380|Q9NY26|cation_%20_transport_%20_(GO:0006812)_%7C_transmembrane_%20_transport_%20_(GO:0055085)_%7C_zinc_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0071577)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|inorganic_%20_cation_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0022890)_%7C_zinc_%20_ion_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005385)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 153963239 exm103541 C T . PASS FUNCOTATION=[RPS27|hg19|chr1|153963239|153963239|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:153963239C>T|ENST00000368567.4|+|1|||||0.5336658354114713|GCTTTCGCTCCTTTCCGGCGG|RPS27_ENST00000392558.4_FIVE_PRIME_UTR/RAB13_ENST00000368575.3_FIVE_PRIME_FLANK/RPS27_ENST00000493224.1_SPLICE_SITE/RAB13_ENST00000462680.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U57847|NM_001030.4|NP_001021.1|HGNC:10416|ribosomal_%20_protein_%20_S27|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ribosomal_%20_protein_%20_S27_%20_(metallopanstimulin_%20_1)"|MPS-1_%2C__%20_MPS1_%2C__%20_S27|"metallopanstimulin_%20_1"|1q21.3|2016-10-05||2008-08-29|U57847||6232|ENSG00000177954|8908372_%2C__%20_8407955|NM_001030|728|S_%20_ribosomal_%20_proteins|CCDS1059|OTTHUMG00000036591|6232|603702|NM_001030|P42677|ENSG00000177954|uc001fdv.4|RS27_HUMAN||Q5T4L6|P42677|cell_%20_proliferation_%20_(GO:0008283)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_mRNA_%20_metabolic_%20_process_%20_(GO:0016071)_%7C_nuclear-transcribed_%20_mRNA_%20_catabolic_%20_process_%2C__%20_nonsense-mediated_%20_decay_%20_(GO:0000184)_%7C_RNA_%20_metabolic_%20_process_%20_(GO:0016070)_%7C_SRP-dependent_%20_cotranslational_%20_protein_%20_targeting_%20_to_%20_membrane_%20_(GO:0006614)_%7C_translation_%20_(GO:0006412)_%7C_translational_%20_elongation_%20_(GO:0006414)_%7C_translational_%20_initiation_%20_(GO:0006413)_%7C_translational_%20_termination_%20_(GO:0006415)_%7C_viral_%20_life_%20_cycle_%20_(GO:0019058)_%7C_viral_%20_process_%20_(GO:0016032)_%7C_viral_%20_transcription_%20_(GO:0019083)|cytosol_%20_(GO:0005829)_%7C_cytosolic_%20_small_%20_ribosomal_%20_subunit_%20_(GO:0022627)_%7C_nucleus_%20_(GO:0005634)_%7C_ribosome_%20_(GO:0005840)|DNA_%20_binding_%20_(GO:0003677)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_structural_%20_constituent_%20_of_%20_ribosome_%20_(GO:0003735)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 154245142 rs11265425 T G . PASS FUNCOTATION=[HAX1|hg19|chr1|154245142|154245142|FIVE_PRIME_UTR||SNP|T|T|G|g.chr1:154245142T>G|ENST00000328703.7|+|1|||||0.5660847880299252|TGCGCAGGTTTCCCCCGTCTG|HAX1_ENST00000483970.2_FIVE_PRIME_UTR/HAX1_ENST00000457918.2_FIVE_PRIME_UTR/HAX1_ENST00000532105.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)||||Kostmann_%20_syndrome|Kostmann_%20_Infantile_%20_Agranulocytosis_%2C__%20_Severe_%20_Congenital_%20_Neutropenia_%2C__%20_Congenital_%20_Agranulocytosis|Familial_%20_Cancer_%20_Database|U68566|NM_006118.3|NP_006109.2|HGNC:16915|HCLS1_%20_associated_%20_protein_%20_X-1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||HS1BP1_%2C__%20_HCLSBP1|"HCLS1_%20_(and_%20_PKD2)_%20_associated_%20_protein"|1q21.3|2017-03-24|||U68566||10456|ENSG00000143575|9058808_%2C__%20_10760273|NM_006118|||CCDS1064_%2C__%20_CCDS44230|OTTHUMG00000035978|10456|605998|NM_001018837|O00165|ENSG00000143575|uc001fes.5|HAX1_HUMAN||A8W4W9_%7C_A8W4X0_%7C_B4DUJ7_%7C_Q5VYD5_%7C_Q5VYD7_%7C_Q96AU4_%7C_Q9BS80|O00165|cellular_%20_response_%20_to_%20_cytokine_%20_stimulus_%20_(GO:0071345)_%7C_positive_%20_regulation_%20_of_%20_actin_%20_cytoskeleton_%20_reorganization_%20_(GO:2000251)_%7C_positive_%20_regulation_%20_of_%20_granulocyte_%20_differentiation_%20_(GO:0030854)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050731)_%7C_positive_%20_regulation_%20_of_%20_phosphatidylinositol_%20_3-kinase_%20_signaling_%20_(GO:0014068)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051897)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_regulation_%20_of_%20_actin_%20_filament_%20_polymerization_%20_(GO:0030833)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_regulation_%20_of_%20_mitochondrion_%20_degradation_%20_(GO:1903146)_%7C_regulation_%20_of_%20_protein_%20_targeting_%20_to_%20_mitochondrion_%20_(GO:1903214)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_lamellipodium_%20_(GO:0030027)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_sarcoplasmic_%20_reticulum_%20_(GO:0016529)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)|interleukin-1_%20_binding_%20_(GO:0019966)_%7C_protein_%20_N-terminus_%20_binding_%20_(GO:0047485)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 154956373 exm105089 A G . PASS FUNCOTATION=[FLAD1|hg19|chr1|154956373|154956373|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:154956373A>G|ENST00000315144.10|+|2|||||0.5910224438902744|TGCCCTGTAGACCTGGCAGGC|FLAD1_ENST00000368433.1_MISSENSE_p.D68G/FLAD1_ENST00000292180.3_MISSENSE_p.D68G/FLAD1_ENST00000368432.1_FIVE_PRIME_UTR/FLAD1_ENST00000368431.3_FIVE_PRIME_UTR/FLAD1_ENST00000295530.2_FIVE_PRIME_FLANK/FLAD1_ENST00000368428.1_FIVE_PRIME_FLANK/FLAD1_ENST00000405236.2_FIVE_PRIME_FLANK/FLAD1_ENST00000487371.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U79241|NM_201398.2|NP_958800.1|HGNC:24671|flavin_%20_adenine_%20_dinucleotide_%20_synthetase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Fad1_%2C__%20_flavin_%20_adenine_%20_dinucleotide_%20_synthetase_%2C__%20_homolog_%20_(yeast)"_%2C__%20_"FAD1_%20_flavin_%20_adenine_%20_dinucleotide_%20_synthetase_%20_homolog_%20_(S._%20_cerevisiae)"_%2C__%20_"flavin_%20_adenine_%20_dinucleotide_%20_synthetase"|PP591_%2C__%20_FAD1||1q21.3|2016-10-05||2013-03-05||2.7.7.2|80308|ENSG00000160688||NM_025207|||CCDS1078_%2C__%20_CCDS1079_%2C__%20_CCDS53371_%2C__%20_CCDS53372|OTTHUMG00000037416|80308|610595|NM_001184891|Q8NFF5|ENSG00000160688|uc001fge.3|FAD1_HUMAN||Q8N5J1_%7C_Q8N686_%7C_Q8WU93_%7C_Q8WUJ4_%7C_Q96CR8_%7C_Q99764_%7C_Q9HBN6|Q8NFF5|FAD_%20_biosynthetic_%20_process_%20_(GO:0006747)_%7C_Mo-molybdopterin_%20_cofactor_%20_biosynthetic_%20_process_%20_(GO:0006777)_%7C_riboflavin_%20_metabolic_%20_process_%20_(GO:0006771)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)_%7C_mitochondrion_%20_(GO:0005739)|ATP_%20_binding_%20_(GO:0005524)_%7C_FMN_%20_adenylyltransferase_%20_activity_%20_(GO:0003919)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 155214473 rs12034326 A G . PASS FUNCOTATION=[GBA|hg19|chr1|155214473|155214473|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:155214473A>G|ENST00000428024.3|-|1|||||0.6159600997506235|TCGGGGCGGGACCTGGATTGG|GBA_ENST00000327247.5_FIVE_PRIME_FLANK/GBA_ENST00000368373.3_FIVE_PRIME_FLANK/GBA_ENST00000427500.3_FIVE_PRIME_FLANK/GBA_ENST00000536770.1_FIVE_PRIME_FLANK/GBA_ENST00000493842.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)||||Gaucher_%20_disease_%20_type_%20_I|glucocerebrosidase_%20_insufficiency|Familial_%20_Cancer_%20_Database|AL713999|NM_001171811.1|NP_001165282.1|HGNC:4177|glucosylceramidase_%20_beta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GLUC|"glucosylceramidase"_%2C__%20_"glucosidase_%2C__%20_beta_%3B__%20_acid_%20_(includes_%20_glucosylceramidase)"_%2C__%20_"glucosidase_%2C__%20_beta_%2C__%20_acid"|GBA1||1q22|2017-07-26||2016-03-15|M19285|3.2.1.21|2629|ENSG00000177628|3359914|NM_000157|||CCDS1102_%2C__%20_CCDS53373_%2C__%20_CCDS53374|OTTHUMG00000035841|2629|606463|NM_000157|P04062|ENSG00000177628|uc001fjk.4|GLCM_HUMAN|Velaglucerase_%20_alfa(DB06720)|A8K796_%7C_B7Z5G2_%7C_B7Z6S1_%7C_J3KQG4_%7C_J3KQK9_%7C_Q16545_%7C_Q4VX22_%7C_Q6I9R6_%7C_Q9UMJ8|P04062|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cell_%20_death_%20_(GO:0008219)_%7C_cellular_%20_response_%20_to_%20_tumor_%20_necrosis_%20_factor_%20_(GO:0071356)_%7C_ceramide_%20_biosynthetic_%20_process_%20_(GO:0046513)_%7C_glucosylceramide_%20_catabolic_%20_process_%20_(GO:0006680)_%7C_glycosphingolipid_%20_metabolic_%20_process_%20_(GO:0006687)_%7C_negative_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050728)_%7C_negative_%20_regulation_%20_of_%20_interleukin-6_%20_production_%20_(GO:0032715)_%7C_negative_%20_regulation_%20_of_%20_MAP_%20_kinase_%20_activity_%20_(GO:0043407)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_dephosphorylation_%20_(GO:0035307)_%7C_regulation_%20_of_%20_water_%20_loss_%20_via_%20_skin_%20_(GO:0033561)_%7C_response_%20_to_%20_estrogen_%20_(GO:0043627)_%7C_response_%20_to_%20_glucocorticoid_%20_(GO:0051384)_%7C_response_%20_to_%20_pH_%20_(GO:0009268)_%7C_response_%20_to_%20_testosterone_%20_(GO:0033574)_%7C_response_%20_to_%20_thyroid_%20_hormone_%20_(GO:0097066)_%7C_skin_%20_morphogenesis_%20_(GO:0043589)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_sphingolipid_%20_metabolic_%20_process_%20_(GO:0006665)_%7C_sphingosine_%20_biosynthetic_%20_process_%20_(GO:0046512)_%7C_termination_%20_of_%20_signal_%20_transduction_%20_(GO:0023021)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)|glucosylceramidase_%20_activity_%20_(GO:0004348)_%7C_receptor_%20_binding_%20_(GO:0005102)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 157670278 exm111816 A T . PASS FUNCOTATION=[FCRL3|hg19|chr1|157670278|157670278|START_CODON_SNP||SNP|A|A|T|g.chr1:157670278A>T|ENST00000368184.3|-|2|294|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.5037406483790524|CCACAGAAGCATGGGCACCGG|FCRL3_ENST00000368186.5_START_CODON_SNP_p.M1K/FCRL3_ENST00000473231.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||154|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||EF064732|NM_052939.3|NP_443171.2|HGNC:18506|Fc_%20_receptor_%20_like_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Fc_%20_receptor-like_%20_3"|FCRH3_%2C__%20_IRTA3_%2C__%20_IFGP3_%2C__%20_SPAP2a_%2C__%20_SPAP2_%2C__%20_SPAP2b_%2C__%20_SPAP2c_%2C__%20_SPAP2d_%2C__%20_SPAP2e_%2C__%20_CD307c||1q23.1|2016-10-05||2016-01-21|AF459027||115352|ENSG00000160856|11493702_%2C__%20_12014205|NM_052939|471_%7C_594|CD_%20_molecules_%7C_Immunoglobulin_%20_like_%20_domain_%20_containing|CCDS1167_%2C__%20_CCDS81385|OTTHUMG00000019400|115352|606510|NM_001320333|Q96P31|ENSG00000160856|uc001frb.4|FCRL3_HUMAN||A0N0M4_%7C_A8MTH7_%7C_D3DVD2_%7C_Q5VXZ8_%7C_Q8N6S2_%7C_Q96LA4_%7C_Q96P27_%7C_Q96P28_%7C_Q96P29_%7C_Q96P30|Q96P31||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 157716528 exm111824 A G . PASS FUNCOTATION=[FCRL2|hg19|chr1|157716528|157716528|NONSTOP||SNP|A|A|G|g.chr1:157716528A>G|ENST00000361516.3|-|12|1574|c.1525T>C|c.(1525-1527)Taa>Caa|p.*509Q|0.4139650872817955|TCCAAGTGTTATGATTTCTTC|FCRL2_ENST00000368181.4_NONSTOP_p.*203Q/FCRL2_ENST00000392274.3_THREE_PRIME_UTR|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||EF064733|NM_030764.3|NP_110391.2|HGNC:14875|Fc_%20_receptor_%20_like_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SPAP1|"SH2_%20_domain-containing_%20_phosphatase_%20_anchor_%20_protein_%20_1"_%2C__%20_"Fc_%20_receptor-like_%20_2"|FCRH2_%2C__%20_IRTA4_%2C__%20_CD307b||1q23.1|2016-01-21|2005-03-23|2016-01-21|AF319438||79368|ENSG00000132704|11162587|NM_030764|471_%7C_594|CD_%20_molecules_%7C_Immunoglobulin_%20_like_%20_domain_%20_containing|CCDS1168|OTTHUMG00000019399|79368|606509|NM_001159488|Q96LA5|ENSG00000132704|uc001fre.3|FCRL2_HUMAN||A0N0M5_%7C_A1L307_%7C_A6NMS0_%7C_Q6NTA1_%7C_Q9BZI4_%7C_Q9BZI5_%7C_Q9BZI6|Q96LA5|cell-cell_%20_signaling_%20_(GO:0007267)_%7C_positive_%20_regulation_%20_of_%20_signal_%20_transduction_%20_(GO:0009967)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|SH3/SH2_%20_adaptor_%20_activity_%20_(GO:0005070)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 158323779 exm112427 A G . PASS FUNCOTATION=[CD1E|hg19|chr1|158323779|158323779|START_CODON_SNP||SNP|A|A|G|g.chr1:158323779A>G|ENST00000368167.3|+|1|240|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5361596009975063|CAGAGCTTCAATGCTGCTCCT|CD1E_ENST00000368160.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368161.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368163.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368166.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368165.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368164.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368156.1_START_CODON_SNP_p.M1V/CD1E_ENST00000452291.2_START_CODON_SNP_p.M1V/CD1E_ENST00000368155.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368154.1_START_CODON_SNP_p.M1V/CD1E_ENST00000368157.1_START_CODON_SNP_p.M1V/CD1E_ENST00000444681.2_START_CODON_SNP_p.M1V/CD1E_ENST00000434258.1_INTRON/CD1E_ENST00000464822.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||190|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(99)_%7C_pancreas(22)|||||||X79519|NM_030893.3|NP_112155.2|HGNC:1638|CD1e_%20_molecule|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"CD1E_%20_antigen_%2C__%20_e_%20_polypeptide"_%2C__%20_"CD1e_%20_antigen"|||1q23.1|2014-11-19||2006-03-28|AJ289111||913|ENSG00000158488|10948205|NM_030893|591_%7C_471|C1-set_%20_domain_%20_containing_%7C_CD_%20_molecules|CCDS41417_%2C__%20_CCDS41418_%2C__%20_CCDS41419_%2C__%20_CCDS41420_%2C__%20_CCDS41421_%2C__%20_CCDS41422_%2C__%20_CCDS53387_%2C__%20_CCDS53388_%2C__%20_CCDS53389_%2C__%20_CCDS53390_%2C__%20_CCDS53384_%2C__%20_CCDS53385_%2C__%20_CCDS53386|OTTHUMG00000017515|913|188411|NM_001042583|P15812|ENSG00000158488|uc001fse.4|CD1E_HUMAN||B4DZV3_%7C_E7EP01_%7C_Q5TDJ9_%7C_Q5TDK3_%7C_Q5TDK4_%7C_Q5TDK5_%7C_Q5TDK6_%7C_Q5TDK8_%7C_Q5TDL1_%7C_Q712E4_%7C_Q712E5_%7C_Q712E6_%7C_Q712E7_%7C_Q712E8_%7C_Q712E9_%7C_Q712F0_%7C_Q712F1_%7C_Q712F2_%7C_Q712F3_%7C_Q712F4_%7C_Q712F5_%7C_Q96TD0_%7C_Q96TD1_%7C_Q9UMM1_%7C_Q9Y5M3|P15812|antigen_%20_processing_%20_and_%20_presentation_%20_(GO:0019882)_%7C_immune_%20_response_%20_(GO:0006955)|endosome_%20_(GO:0005768)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_lysosome_%20_(GO:0005764)|lipid_%20_binding_%20_(GO:0008289)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 158576993 indel.7654 T TC . PASS FUNCOTATION=[OR10Z1|hg19|chr1|158576993|158576994|FRAME_SHIFT_INS||INS|-|-|C|g.chr1:158576993_158576994insC|ENST00000361284.1|+|1|765|c.765_766insC|c.(766-768)tccfs|p.S256fs|0.4875|TGGCTGTGCTTCCTTCGTGT||||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471121|NM_001004478.1|NP_001004478.1|HGNC:14996|olfactory_%20_receptor_%20_family_%20_10_%20_subfamily_%20_Z_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"olfactory_%20_receptor_%2C__%20_family_%20_10_%2C__%20_subfamily_%20_Z_%2C__%20_member_%20_1"|||1q23.1|2015-12-09||2015-12-09|AB065635||128368|ENSG00000198967||NM_001004478|157|Olfactory_%20_receptors_%2C__%20_family_%20_10|CCDS30901|OTTHUMG00000019637|128368||NM_001004478|Q8NGY1|ENSG00000198967|uc010pio.2|O10Z1_HUMAN||Q5VYL0_%7C_Q6IFR7|Q8NGY1||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 158815534 indel.7712 A AAC . PASS FUNCOTATION=[MNDA|hg19|chr1|158815534|158815535|FRAME_SHIFT_INS||INS|-|-|AC|g.chr1:158815534_158815535insAC|ENST00000368141.4|+|5|989|c.728_729insAC|c.(727-729)aagfs|p.T244fs|0.395|TGGCCAGTAAGACTCAATAT||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||M81750|NM_002432.1|NP_002423.1|HGNC:7183|myeloid_%20_cell_%20_nuclear_%20_differentiation_%20_antigen|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||PYHIN3||1q23.1|2017-03-23|||BC032319||4332|ENSG00000163563|1644857_%2C__%20_7512843_%2C__%20_25665578|NM_002432|994_%7C_995|Pyrin_%20_domain_%20_containing_%7C_Pyrin_%20_and_%20_HIN_%20_domain_%20_family|CCDS1177|OTTHUMG00000022776|4332|159553|NM_002432|P41218|ENSG00000163563|uc001fsz.2|MNDA_HUMAN|||P41218|B_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050853)_%7C_cellular_%20_defense_%20_response_%20_(GO:0006968)_%7C_cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_proliferation_%20_(GO:0030889)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 159032484 exm113976 A C . PASS FUNCOTATION=[AIM2|hg19|chr1|159032484|159032484|NONSTOP||SNP|A|A|C|g.chr1:159032484A>C|ENST00000368130.4|-|6|1319|c.1030T>G|c.(1030-1032)Tag>Gag|p.*344E|0.38154613466334164|TTACTTCTCTATGTTTTTTTT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC010940|NM_004833.1|NP_004824.1|HGNC:357|absent_%20_in_%20_melanoma_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||PYHIN4||1q23.1-q23.2|2017-06-08|||AF024714||9447|ENSG00000163568|9242382_%2C__%20_25665578|NM_004833|995|Pyrin_%20_and_%20_HIN_%20_domain_%20_family|CCDS1181|OTTHUMG00000037183|9447|604578|NM_004833|O14862|ENSG00000163568|uc001ftj.2|AIM2_HUMAN||A8K7M7_%7C_Q5T3V9_%7C_Q96FG9|O14862|activation_%20_of_%20_innate_%20_immune_%20_response_%20_(GO:0002218)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_drug_%20_(GO:0035690)_%7C_cellular_%20_response_%20_to_%20_interferon-beta_%20_(GO:0035458)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_interleukin-1_%20_beta_%20_secretion_%20_(GO:0050702)_%7C_negative_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0032088)_%7C_nucleotide-binding_%20_domain_%2C__%20_leucine_%20_rich_%20_repeat_%20_containing_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0035872)_%7C_positive_%20_regulation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_(GO:2001056)_%7C_positive_%20_regulation_%20_of_%20_defense_%20_response_%20_to_%20_virus_%20_by_%20_host_%20_(GO:0002230)_%7C_positive_%20_regulation_%20_of_%20_interleukin-1_%20_beta_%20_production_%20_(GO:0032731)_%7C_positive_%20_regulation_%20_of_%20_interleukin-1_%20_beta_%20_secretion_%20_(GO:0050718)_%7C_positive_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0051092)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_oligomerization_%20_(GO:0032461)_%7C_pyroptosis_%20_(GO:0070269)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|AIM2_%20_inflammasome_%20_complex_%20_(GO:0097169)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)|double-stranded_%20_DNA_%20_binding_%20_(GO:0003690)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 159796689 exm114535 A T . PASS FUNCOTATION=[SLAMF8|hg19|chr1|159796689|159796689|START_CODON_SNP||SNP|A|A|T|g.chr1:159796689A>T|ENST00000289707.5|+|1|150|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.5536159600997507|CCAGAGAAAGATGGTCATGAG|SLAMF8_ENST00000368104.4_START_CODON_SNP_p.M1L/SLAMF8_ENST00000471286.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC109194|NM_020125.2|NP_064510.1|HGNC:21391|SLAM_%20_family_%20_member_%20_8|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||BLAME_%2C__%20_SBBI42_%2C__%20_CD353||1q23.2|2016-10-05|||AF146761||56833|ENSG00000158714|11313408|NM_020125|471_%7C_594|CD_%20_molecules_%7C_Immunoglobulin_%20_like_%20_domain_%20_containing|CCDS1188_%2C__%20_CCDS81387|OTTHUMG00000035433|56833|606620|NM_020125|Q9P0V8|ENSG00000158714|uc001fue.5|SLAF8_HUMAN||Q32MC6_%7C_Q5VU15|Q9P0V8|cellular_%20_response_%20_to_%20_drug_%20_(GO:0035690)_%7C_defense_%20_response_%20_to_%20_bacterium_%20_(GO:0042742)_%7C_phagosome_%20_acidification_%20_(GO:0090383)_%7C_regulation_%20_of_%20_kinase_%20_activity_%20_(GO:0043549)_%7C_regulation_%20_of_%20_NAD(P)H_%20_oxidase_%20_activity_%20_(GO:0033860)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|receptor_%20_activity_%20_(GO:0004872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 160797604 exm116520 T G . PASS FUNCOTATION=[LY9|hg19|chr1|160797604|160797604|NONSTOP||SNP|T|T|G|g.chr1:160797604T>G|ENST00000263285.6|+|10|1996|c.1966T>G|c.(1966-1968)Tga>Gga|p.*656G|0.5087281795511222|AAATTTCACCTGAAAGGAAAA|LY9_ENST00000368037.5_NONSTOP_p.*642G/LY9_ENST00000392203.4_NONSTOP_p.*566G/LY9_ENST00000368040.1_NONSTOP_p.*271G/LY9_ENST00000368041.2_NONSTOP_p.*527G/LY9_ENST00000341032.4_NONSTOP_p.*522G|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||L42621|||HGNC:6730|lymphocyte_%20_antigen_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CD229_%2C__%20_mLY9_%2C__%20_SLAMF3_%2C__%20_hly9||1q23.3|2014-11-18|||L42621||4063|ENSG00000122224|8537117_%2C__%20_7797269|NM_002348|471_%7C_594|CD_%20_molecules_%7C_Immunoglobulin_%20_like_%20_domain_%20_containing|CCDS30916_%2C__%20_CCDS30917_%2C__%20_CCDS65695_%2C__%20_CCDS65696|OTTHUMG00000024007|4063|600684|NM_001033667|Q9HBG7|ENSG00000122224|uc001fwu.5|LY9_HUMAN||A8K7N3_%7C_Q14775_%7C_Q5VYI3_%7C_Q6P2J4_%7C_Q9H4N5_%7C_Q9NQ24|Q9HBG7|cell_%20_adhesion_%20_(GO:0007155)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|receptor_%20_activity_%20_(GO:0004872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 161677004 exm118314 A T . PASS FUNCOTATION=[FCRLA|hg19|chr1|161677004|161677004|START_CODON_SNP||SNP|A|A|T|g.chr1:161677004A>T|ENST00000236938.6|+|1|243|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.4488778054862843|GAGAGGTTTCATGTTGAAGAA|FCRLA_ENST00000367957.2_START_CODON_SNP_p.M1L/FCRLA_ENST00000367959.2_START_CODON_SNP_p.M1L/FCRLA_ENST00000546024.1_START_CODON_SNP_p.M1L/FCRLA_ENST00000540521.1_START_CODON_SNP_p.M1L/FCRLA_ENST00000367949.2_START_CODON_SNP_p.M1L/FCRLA_ENST00000350710.3_START_CODON_SNP_p.M1L/FCRLA_ENST00000540926.1_FIVE_PRIME_UTR/FCRLA_ENST00000294796.4_FIVE_PRIME_FLANK/FCRLA_ENST00000309691.6_FIVE_PRIME_FLANK/FCRLA_ENST00000349527.4_FIVE_PRIME_FLANK/FCRLA_ENST00000367950.1_FIVE_PRIME_FLANK/FCRLA_ENST00000367953.3_FIVE_PRIME_FLANK/FCRLA_ENST00000470841.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||EF064729|NM_032738.3|NP_116127.3|HGNC:18504|Fc_%20_receptor_%20_like_%20_A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FCRLM1|"Fc_%20_receptor-like_%20_and_%20_mucin-like_%20_1"_%2C__%20_"Fc_%20_receptor-like_%20_A"|MGC4595_%2C__%20_FCRLc2_%2C__%20_FCRLb_%2C__%20_FCRLc1_%2C__%20_FCRLd_%2C__%20_FCRLe_%2C__%20_FCRL_%2C__%20_FCRLa_%2C__%20_FREB_%2C__%20_FCRLX||1q23.3|2016-01-21|2006-09-26|2016-01-21|AF531423||84824|ENSG00000132185|11754007|NM_032738|594|Immunoglobulin_%20_like_%20_domain_%20_containing|CCDS30926_%2C__%20_CCDS53415_%2C__%20_CCDS53416_%2C__%20_CCDS53417_%2C__%20_CCDS53418_%2C__%20_CCDS53419_%2C__%20_CCDS53420|OTTHUMG00000034537|84824|606891|NM_001184866|Q7L513|ENSG00000132185|uc001gbd.4|FCRLA_HUMAN||A0N0M1_%7C_A6NC03_%7C_A6NL20_%7C_F5H720_%7C_F8W743_%7C_G3V1J2_%7C_Q5VXA1_%7C_Q5VXA2_%7C_Q5VXA3_%7C_Q5VXA4_%7C_Q5VXB0_%7C_Q5VXB1_%7C_Q8NEW4_%7C_Q8WXH3_%7C_Q96PC6_%7C_Q96PJ0_%7C_Q96PJ1_%7C_Q96PJ2_%7C_Q96PJ4_%7C_Q9BR57|Q7L513|cell_%20_differentiation_%20_(GO:0030154)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 161697451 exm118460 G C . PASS FUNCOTATION=[FCRLB|hg19|chr1|161697451|161697451|NONSTOP||SNP|G|G|C|g.chr1:161697451G>C|ENST00000367948.2|+|8|1495|c.1280G>C|c.(1279-1281)tGa>tCa|p.*427S|0.5635910224438903|GTGGAGAGCTGAGGGGGCGGC|FCRLB_ENST00000336830.5_THREE_PRIME_UTR/FCRLB_ENST00000367944.3_THREE_PRIME_UTR/FCRLB_ENST00000367946.3_THREE_PRIME_UTR/FCRLB_ENST00000367945.1_THREE_PRIME_UTR/FCRLB_ENST00000392158.1_NONSTOP_p.*427S/FCRLB_ENST00000495397.1_INTRON|||||||||||||||||||||||||22|central_nervous_system(22)|||||||EF064728|||HGNC:26431|Fc_%20_receptor_%20_like_%20_B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FCRLM2|"Fc_%20_receptor-like_%20_and_%20_mucin-like_%20_2"_%2C__%20_"Fc_%20_receptor-like_%20_B"|FLJ31052_%2C__%20_FCRL2_%2C__%20_FREB-2_%2C__%20_FCRLY||1q23.3|2016-01-21|2006-09-26|2016-01-21|AY670683||127943|ENSG00000162746|15676285|NM_152378|594|Immunoglobulin_%20_like_%20_domain_%20_containing|CCDS30927_%2C__%20_CCDS72962_%2C__%20_CCDS72963_%2C__%20_CCDS72964_%2C__%20_CCDS72965|OTTHUMG00000133629|127943|609251|NM_001002901|Q6BAA4|ENSG00000162746|uc001gbh.4|FCRLB_HUMAN||A2A3J5_%7C_A2A3J7_%7C_Q5VXA6_%7C_Q6BAA0_%7C_Q6BAA1_%7C_Q6BAA2_%7C_Q6BAA3_%7C_Q8IXZ7|Q6BAA4|negative_%20_regulation_%20_of_%20_immune_%20_response_%20_(GO:0050777)|cytoplasm_%20_(GO:0005737)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 165619079 exm119609 C T . PASS FUNCOTATION=[MGST3|hg19|chr1|165619079|165619079|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:165619079C>T|ENST00000367889.3|+|2|||||0.44389027431421446|CTTCCACAGACGCAAGATGGC|MGST3_ENST00000367884.2_DE_NOVO_START_OUT_FRAME/MGST3_ENST00000367888.4_DE_NOVO_START_OUT_FRAME/MGST3_ENST00000367883.1_SPLICE_SITE_p.R13C/MGST3_ENST00000367885.1_SPLICE_SITE_p.R13C/MGST3_ENST00000367886.2_SPLICE_SITE_p.R13C|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||DQ185045|NM_004528.3|NP_004519.1|HGNC:7064|microsomal_%20_glutathione_%20_S-transferase_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||GST-III|"microsomal_%20_glutathione_%20_S-transferase_%20_III"_%2C__%20_"microsomal_%20_GST-3"_%2C__%20_"microsomal_%20_GST-III"|1q24.1|2016-10-05|||AF026977|2.5.1.18|4259|ENSG00000143198|9278457|NM_004528|1469|Microsomal_%20_glutathione_%20_S-transferases|CCDS1249|OTTHUMG00000034627|4259|604564|NM_004528|O14880|ENSG00000143198|uc001gdf.4|MGST3_HUMAN|Glutathione(DB00143)|B2R592_%7C_Q6ICN4|O14880|glutathione_%20_derivative_%20_biosynthetic_%20_process_%20_(GO:1901687)_%7C_lipid_%20_metabolic_%20_process_%20_(GO:0006629)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_membrane_%20_(GO:0016020)_%7C_nuclear_%20_envelope_%20_(GO:0005635)|glutathione_%20_peroxidase_%20_activity_%20_(GO:0004602)_%7C_glutathione_%20_transferase_%20_activity_%20_(GO:0004364)_%7C_peroxidase_%20_activity_%20_(GO:0004601)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 165667795 exm119723 T G . PASS FUNCOTATION=[ALDH9A1|hg19|chr1|165667795|165667795|START_CODON_SNP||SNP|T|T|G|g.chr1:165667795T>G|ENST00000354775.4|-|1|306|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.6957605985037406|CGGAGAAACATGAGTGGCGGA|ALDH9A1_ENST00000538148.1_FIVE_PRIME_FLANK/RP11-466F5.6_ENST00000400982.2_FIVE_PRIME_FLANK/ALDH9A1_ENST00000461664.1_FIVE_PRIME_FLANK|Ovarian(179_%3B_1583_%20_2014_%20_18106_%20_33801_%20_42447)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X75425|NM_000696.3|NP_000687.3|HGNC:412|aldehyde_%20_dehydrogenase_%20_9_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ALDH7_%2C__%20_ALDH4_%2C__%20_ALDH9|"aldehyde_%20_dehydrogenase_%20_9_%20_family_%2C__%20_member_%20_A1"|E3||1q24.1|2015-11-18||2015-11-18|U34252||223|ENSG00000143149|8112751_%2C__%20_8786138||398|Aldehyde_%20_dehydrogenases|CCDS1250|OTTHUMG00000034677|223|602733|NM_000696|P49189|ENSG00000143149|uc001gdh.2|AL9A1_HUMAN||B2R6X1_%7C_B4DXY7_%7C_Q5VV90_%7C_Q6LCL1_%7C_Q9NZT7|P49189|carnitine_%20_biosynthetic_%20_process_%20_(GO:0045329)_%7C_cellular_%20_aldehyde_%20_metabolic_%20_process_%20_(GO:0006081)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_hormone_%20_metabolic_%20_process_%20_(GO:0042445)_%7C_kidney_%20_development_%20_(GO:0001822)_%7C_liver_%20_development_%20_(GO:0001889)_%7C_neurotransmitter_%20_biosynthetic_%20_process_%20_(GO:0042136)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)|1-pyrroline_%20_dehydrogenase_%20_activity_%20_(GO:0033737)_%7C_3-chloroallyl_%20_aldehyde_%20_dehydrogenase_%20_activity_%20_(GO:0004028)_%7C_4-trimethylammoniobutyraldehyde_%20_dehydrogenase_%20_activity_%20_(GO:0047105)_%7C_aldehyde_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004029)_%7C_amine_%20_binding_%20_(GO:0043176)_%7C_aminobutyraldehyde_%20_dehydrogenase_%20_activity_%20_(GO:0019145)_%7C_NAD_%20_binding_%20_(GO:0051287)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 171154418 rs28369797 C T . PASS FUNCOTATION=[FMO2|hg19|chr1|171154418|171154418|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:171154418C>T|ENST00000209929.7|+|1|||||0.43640897755610975|CTCTTAAAAACGCTTCCAACT|FMO2_ENST00000441535.1_DE_NOVO_START_OUT_FRAME/FMO2_ENST00000529935.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Y09267|||HGNC:3770|flavin_%20_containing_%20_monooxygenase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"flavin_%20_containing_%20_monooxygenase_%20_2_%20_(non-functional)"|||1q24.3|2016-04-25||2015-11-04|BC005894||2327|ENSG00000094963|1417778_%2C__%20_9804831|NM_001460|||CCDS1293|OTTHUMG00000035504|2327|603955|NM_001301347|Q99518|ENSG00000094963|uc057ngi.1|FMO4_HUMAN||Q53XR0|P31512|drug_%20_catabolic_%20_process_%20_(GO:0042737)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|flavin_%20_adenine_%20_dinucleotide_%20_binding_%20_(GO:0050660)_%7C_N_%2C_N-dimethylaniline_%20_monooxygenase_%20_activity_%20_(GO:0004499)_%7C_NADP_%20_binding_%20_(GO:0050661)||||true|false|0.9882_%2C_._%2C_0.01178|false|false|1||false|true|false|FMO2:2327|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28369797|171154418|false|false|0|true|0|false|0.993028_%2C_._%2C_0.00697163|true|false|true|SNV|true|0x050110400005150537000100|1|false|125|rs28369797|] +1 171178090 exm123207 T C . PASS FUNCOTATION=[FMO2|hg19|chr1|171178090|171178090|NONSTOP||SNP|T|T|C|g.chr1:171178090T>C|ENST00000209929.7|+|9|1572|c.1414T>C|c.(1414-1416)Tag>Cag|p.*472Q|0.456359102244389|CAACTCCTATTAGTATCGCCT|FMO2_ENST00000441535.1_NONSTOP_p.*472Q/RP1-127D3.4_ENST00000422841.1_RNA/RP1-127D3.4_ENST00000445909.1_RNA/RP1-127D3.4_ENST00000445290.1_RNA/FMO2_ENST00000529935.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Y09267|||HGNC:3770|flavin_%20_containing_%20_monooxygenase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"flavin_%20_containing_%20_monooxygenase_%20_2_%20_(non-functional)"|||1q24.3|2016-04-25||2015-11-04|BC005894||2327|ENSG00000094963|1417778_%2C__%20_9804831|NM_001460|||CCDS1293|OTTHUMG00000035504|2327|603955|NM_001301347|Q99518|ENSG00000094963|uc057ngi.1|FMO4_HUMAN||Q53XR0|P31512|drug_%20_catabolic_%20_process_%20_(GO:0042737)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|flavin_%20_adenine_%20_dinucleotide_%20_binding_%20_(GO:0050660)_%7C_N_%2C_N-dimethylaniline_%20_monooxygenase_%20_activity_%20_(GO:0004499)_%7C_NADP_%20_binding_%20_(GO:0050661)||||true|false|0.9537_%2C_0.04633|false|false|1||false|true|false|FMO2:2327|true|true|false|true|true|false|false|false|false|false|false|false|true|false|false|true|true|false|false|true|6661174|171178090|false|false|0|true|0|false||false|true|false|SNV|true|0x05012880060515053f000100|1|false|116|rs6661174|] +1 171178090 rs6661174 T C . PASS FUNCOTATION=[FMO2|hg19|chr1|171178090|171178090|NONSTOP||SNP|T|T|C|g.chr1:171178090T>C|ENST00000209929.7|+|9|1572|c.1414T>C|c.(1414-1416)Tag>Cag|p.*472Q|0.456359102244389|CAACTCCTATTAGTATCGCCT|FMO2_ENST00000441535.1_NONSTOP_p.*472Q/RP1-127D3.4_ENST00000422841.1_RNA/RP1-127D3.4_ENST00000445909.1_RNA/RP1-127D3.4_ENST00000445290.1_RNA/FMO2_ENST00000529935.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Y09267|||HGNC:3770|flavin_%20_containing_%20_monooxygenase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"flavin_%20_containing_%20_monooxygenase_%20_2_%20_(non-functional)"|||1q24.3|2016-04-25||2015-11-04|BC005894||2327|ENSG00000094963|1417778_%2C__%20_9804831|NM_001460|||CCDS1293|OTTHUMG00000035504|2327|603955|NM_001301347|Q99518|ENSG00000094963|uc057ngi.1|FMO4_HUMAN||Q53XR0|P31512|drug_%20_catabolic_%20_process_%20_(GO:0042737)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|flavin_%20_adenine_%20_dinucleotide_%20_binding_%20_(GO:0050660)_%7C_N_%2C_N-dimethylaniline_%20_monooxygenase_%20_activity_%20_(GO:0004499)_%7C_NADP_%20_binding_%20_(GO:0050661)||||true|false|0.9537_%2C_0.04633|false|false|1||false|true|false|FMO2:2327|true|true|false|true|true|false|false|false|false|false|false|false|true|false|false|true|true|false|false|true|6661174|171178090|false|false|0|true|0|false||false|true|false|SNV|true|0x05012880060515053f000100|1|false|116|rs6661174|] +1 175046557 exm125033 G T . PASS FUNCOTATION=[TNN|hg19|chr1|175046557|175046557|START_CODON_SNP||SNP|G|G|T|g.chr1:175046557G>T|ENST00000239462.4|+|2|116|c.3G>T|c.(1-3)atG>atT|p.M1I|0.5336658354114713|TTCCAAGGATGAGTCTCCAGG||||||||||||||||||||||||||141|biliary_tract(2)_%7C_breast(33)_%7C_central_nervous_system(44)_%7C_large_intestine(35)_%7C_lung(4)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||Z99715|NM_022093.1|NP_071376.1|HGNC:22942|tenascin_%20_N|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q25.1|2016-10-05|||AK127044||63923|ENSG00000120332||XM_040527|555_%7C_554|Fibronectin_%20_type_%20_III_%20_domain_%20_containing_%7C_Fibrinogen_%20_C_%20_domain_%20_containing|CCDS30943|OTTHUMG00000034882|63923|617472|NM_022093|Q9UQP3|ENSG00000120332|uc001gkl.1|TENN_HUMAN||B9EGP3_%7C_Q5R360|Q9UQP3|axonogenesis_%20_(GO:0007409)_%7C_cell_%20_growth_%20_(GO:0016049)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_cell-matrix_%20_adhesion_%20_(GO:0007160)|cell_%20_surface_%20_(GO:0009986)_%7C_proteinaceous_%20_extracellular_%20_matrix_%20_(GO:0005578)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 175116207 exm125284 A G . PASS FUNCOTATION=[TNN|hg19|chr1|175116207|175116207|NONSTOP||SNP|A|A|G|g.chr1:175116207A>G|ENST00000239462.4|+|19|4013|c.3900A>G|c.(3898-3900)tgA>tgG|p.*1300W|0.5361596009975063|GAACGTTCTGATGGCCCGTGT||||||||||||||||||||||||||141|biliary_tract(2)_%7C_breast(33)_%7C_central_nervous_system(44)_%7C_large_intestine(35)_%7C_lung(4)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||Z99715|NM_022093.1|NP_071376.1|HGNC:22942|tenascin_%20_N|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q25.1|2016-10-05|||AK127044||63923|ENSG00000120332||XM_040527|555_%7C_554|Fibronectin_%20_type_%20_III_%20_domain_%20_containing_%7C_Fibrinogen_%20_C_%20_domain_%20_containing|CCDS30943|OTTHUMG00000034882|63923|617472|NM_022093|Q9UQP3|ENSG00000120332|uc001gkl.1|TENN_HUMAN||B9EGP3_%7C_Q5R360|Q9UQP3|axonogenesis_%20_(GO:0007409)_%7C_cell_%20_growth_%20_(GO:0016049)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_cell-matrix_%20_adhesion_%20_(GO:0007160)|cell_%20_surface_%20_(GO:0009986)_%7C_proteinaceous_%20_extracellular_%20_matrix_%20_(GO:0005578)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 182027144 exm129006 A T . PASS FUNCOTATION=[ZNF648|hg19|chr1|182027144|182027144|START_CODON_SNP||SNP|A|A|T|g.chr1:182027144A>T|ENST00000339948.3|-|2|210|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.513715710723192|CACTTGTGCCATGATGTTCAG||NSCLC(71_%3B_908_%20_1374_%20_5429_%20_20458_%20_35642)||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC137224|NM_001009992.1|NP_001009992.1|HGNC:18190|zinc_%20_finger_%20_protein_%20_648|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ46813||1q25.3|2015-09-10|||AK128654||127665|ENSG00000179930||XM_060597|28|Zinc_%20_fingers_%20_C2H2-type|CCDS30952|OTTHUMG00000037302|127665||NM_001009992|Q5T619|ENSG00000179930|uc001goz.3|ZN648_HUMAN||B2RP16|Q5T619|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 182555939 newrs74315365 C T . PASS FUNCOTATION=[RNASEL|hg19|chr1|182555939|182555939|START_CODON_SNP||SNP|C|C|T|g.chr1:182555939C>T|ENST00000367559.3|-|2|257|c.3G>A|c.(1-3)atG>atA|p.M1I|0.46384039900249374|CCCTGCTCTCCATGACGGTAA|RNASEL_ENST00000444138.1_START_CODON_SNP_p.M1I/RNASEL_ENST00000539397.1_START_CODON_SNP_p.M1I|||||||||||||||||||||||||574|biliary_tract(2)_%7C_breast(27)_%7C_central_nervous_system(60)_%7C_haematopoietic_and_lymphoid_tissue(54)_%7C_kidney(46)_%7C_large_intestine(71)_%7C_lung(52)_%7C_ovary(52)_%7C_pancreas(22)_%7C_stomach(175)_%7C_testis(13)|||||||L10381|NM_021133.3|NP_066956.1|HGNC:10050|ribonuclease_%20_L|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|RNS4_%2C__%20_PRCA1|"prostate_%20_cancer_%20_1"_%2C__%20_"ribonuclease_%20_L_%20_(2'_%2C_5'-oligoisoadenylate_%20_synthetase-dependent)"|||1q25.3|2016-10-05||2016-01-25|L10381|3.1.26.-|6041|ENSG00000135828|7514564|NM_021133|403|Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS1347|OTTHUMG00000035213|6041|180435|NM_021133|Q05823|ENSG00000135828|uc009wxz.3|RN5A_HUMAN||Q5W0L2_%7C_Q6AI46|Q05823|cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_defense_%20_response_%20_to_%20_virus_%20_(GO:0051607)_%7C_mRNA_%20_processing_%20_(GO:0006397)_%7C_negative_%20_regulation_%20_of_%20_viral_%20_genome_%20_replication_%20_(GO:0045071)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_RNA_%20_phosphodiester_%20_bond_%20_hydrolysis_%2C__%20_endonucleolytic_%20_(GO:0090502)_%7C_rRNA_%20_processing_%20_(GO:0006364)_%7C_type_%20_I_%20_interferon_%20_signaling_%20_pathway_%20_(GO:0060337)|cytosol_%20_(GO:0005829)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nuclear_%20_matrix_%20_(GO:0016363)|ATP_%20_binding_%20_(GO:0005524)_%7C_endoribonuclease_%20_activity_%20_(GO:0004521)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_RNA_%20_binding_%20_(GO:0003723)_%7C_rRNA_%20_binding_%20_(GO:0019843)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 196670459 exm133400 T C . PASS FUNCOTATION=[CFH|hg19|chr1|196670459|196670459|NONSTOP||SNP|T|T|C|g.chr1:196670459T>C|ENST00000359637.2|+|9|1218|c.1156T>C|c.(1156-1158)Tga>Cga|p.*386R|0.44389027431421446|CTTTACCCTCTGAACTTCTGA|CFH_ENST00000367429.4_INTRON/CFH_ENST00000439155.2_NONSTOP_p.*450R|||||||||||||||||||||||||524|biliary_tract(2)_%7C_breast(186)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL049744|||HGNC:4883|complement_%20_factor_%20_H|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HF_%2C__%20_HF1_%2C__%20_HF2|"H_%20_factor_%20_1_%20_(complement)"|HUS_%2C__%20_FHL1_%2C__%20_ARMS1_%2C__%20_ARMD4|"beta-1H"_%2C__%20_"H_%20_factor_%20_2_%20_(complement)"_%2C__%20_"age-related_%20_maculopathy_%20_susceptibility_%20_1"|1q31.3|2017-03-24|2004-08-12|2004-08-09|Y00716||3075|ENSG00000000971|2889480_%2C__%20_2963625|NM_000186|1179_%7C_492|Sushi_%20_domain_%20_containing_%7C_Complement_%20_system|CCDS1385_%2C__%20_CCDS53452|OTTHUMG00000035607|3075|134370|NM_000186|P08603|ENSG00000000971|uc001gtj.4|CFAH_HUMAN||A5PL14_%7C_P78435_%7C_Q14570_%7C_Q2TAZ5_%7C_Q38G77_%7C_Q5TFM3_%7C_Q8N708_%7C_Q9NU86|P08603|complement_%20_activation_%20_(GO:0006956)_%7C_complement_%20_activation_%2C__%20_alternative_%20_pathway_%20_(GO:0006957)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_regulation_%20_of_%20_complement_%20_activation_%20_(GO:0030449)|blood_%20_microparticle_%20_(GO:0072562)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|heparan_%20_sulfate_%20_proteoglycan_%20_binding_%20_(GO:0043395)_%7C_heparin_%20_binding_%20_(GO:0008201)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 197057491 indel.9105 T TCC . PASS FUNCOTATION=[ASPM|hg19|chr1|197057491|197057492|FRAME_SHIFT_INS||INS|-|-|CC|g.chr1:197057491_197057492insCC|ENST00000367409.4|-|26|10313|c.10055_10056insGG|c.(10054-10056)atafs|p.I3352fs|0.3175|TTCTCGGTATATCTGCAAAA|ASPM_ENST00000367408.1_FRAME_SHIFT_INS_p.I1017fs/ASPM_ENST00000294732.7_FRAME_SHIFT_INS_p.I1767fs|||||||||||||||||||||||||344|biliary_tract(2)_%7C_breast(14)_%7C_central_nervous_system(44)_%7C_genital_tract(91)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)_%7C_testis(65)_%7C_upper_aerodigestive_tract(1)|||||||CH471067|NM_018136.4|NP_060606.3|HGNC:19048|abnormal_%20_spindle_%20_microtubule_%20_assembly|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MCPH5|"microcephaly_%2C__%20_primary_%20_autosomal_%20_recessive_%20_5"_%2C__%20_"asp_%20_(abnormal_%20_spindle)-like_%2C__%20_microcephaly_%20_associated_%20_(Drosophila)"_%2C__%20_"asp_%20_(abnormal_%20_spindle)_%20_homolog_%2C__%20_microcephaly_%20_associated_%20_(Drosophila)"|Calmbp1_%2C__%20_ASP_%2C__%20_FLJ10517_%2C__%20_FLJ10549||1q31.3|2016-10-05||2015-08-14|AY367065||259266|ENSG00000066279|11078481|NM_018136|||CCDS1389_%2C__%20_CCDS55672|OTTHUMG00000036277|259266|605481|NM_001206846|Q8IZT6|ENSG00000066279|uc001gtu.4|ASPM_HUMAN||Q4G1H1_%7C_Q5VYL3_%7C_Q86UX4_%7C_Q8IUL2_%7C_Q8IZJ7_%7C_Q8IZJ8_%7C_Q8IZJ9_%7C_Q8N4D1_%7C_Q9NVS1_%7C_Q9NVT6|Q8IZT6|developmental_%20_growth_%20_(GO:0048589)_%7C_forebrain_%20_neuroblast_%20_division_%20_(GO:0021873)_%7C_maintenance_%20_of_%20_centrosome_%20_location_%20_(GO:0051661)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_negative_%20_regulation_%20_of_%20_asymmetric_%20_cell_%20_division_%20_(GO:0045769)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_differentiation_%20_(GO:0045665)_%7C_neuron_%20_migration_%20_(GO:0001764)_%7C_oogenesis_%20_(GO:0048477)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_positive_%20_regulation_%20_of_%20_neuroblast_%20_proliferation_%20_(GO:0002052)_%7C_spermatogenesis_%20_(GO:0007283)|cytoplasm_%20_(GO:0005737)_%7C_midbody_%20_(GO:0030496)_%7C_nucleus_%20_(GO:0005634)_%7C_spindle_%20_pole_%20_(GO:0000922)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 207700162 indel.9720 A AAGAT . PASS FUNCOTATION=[CR1|hg19|chr1|207700162|207700163|FRAME_SHIFT_INS||INS|-|-|AGAT|g.chr1:207700162_207700163insAGAT|ENST00000367049.4|+|6|951|c.951_952insAGAT|c.(952-954)cctfs|p.P318fs|0.445|CAACTTTTCACCTGGGCAGG|CR1_ENST00000367052.1_FRAME_SHIFT_INS_p.P318fs/CR1_ENST00000367053.1_FRAME_SHIFT_INS_p.P318fs/CR1_ENST00000400960.2_FRAME_SHIFT_INS_p.P318fs/CR1_ENST00000367051.1_INTRON/CR1_ENST00000367050.4_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M31241|NM_000651.4|NP_000642.3|HGNC:2334|complement_%20_C3b/C4b_%20_receptor_%20_1_%20_(Knops_%20_blood_%20_group)|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"complement_%20_component_%20_(3b/4b)_%20_receptor_%20_1_%2C__%20_including_%20_Knops_%20_blood_%20_group_%20_system"_%2C__%20_"complement_%20_component_%20_(3b/4b)_%20_receptor_%20_1_%20_(Knops_%20_blood_%20_group)"_%2C__%20_"complement_%20_component_%20_3b/4b_%20_receptor_%20_1_%20_(Knops_%20_blood_%20_group)"|CD35_%2C__%20_KN||1q32.2|2017-03-24||2016-08-10|Y00816||1378|ENSG00000203710|1708809|NM_000573|1179_%7C_492_%7C_471_%7C_454|Sushi_%20_domain_%20_containing_%7C_Complement_%20_system_%7C_CD_%20_molecules_%7C_Blood_%20_group_%20_antigens|CCDS44308_%2C__%20_CCDS44309|OTTHUMG00000036311|1378|120620|NM_000573|P17927|ENSG00000203710|uc001hfx.4|CR1_HUMAN||Q16744_%7C_Q16745_%7C_Q5SR43_%7C_Q5SR45_%7C_Q9UQV2|P17927|complement_%20_activation_%2C__%20_classical_%20_pathway_%20_(GO:0006958)_%7C_complement_%20_receptor_%20_mediated_%20_signaling_%20_pathway_%20_(GO:0002430)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_negative_%20_regulation_%20_of_%20_complement_%20_activation_%2C__%20_alternative_%20_pathway_%20_(GO:0045957)_%7C_negative_%20_regulation_%20_of_%20_complement_%20_activation_%2C__%20_classical_%20_pathway_%20_(GO:0045959)_%7C_negative_%20_regulation_%20_of_%20_serine-type_%20_endopeptidase_%20_activity_%20_(GO:1900004)_%7C_positive_%20_regulation_%20_of_%20_serine-type_%20_endopeptidase_%20_activity_%20_(GO:1900005)_%7C_regulation_%20_of_%20_complement_%20_activation_%20_(GO:0030449)|cell_%20_surface_%20_(GO:0009986)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_plasma_%20_membrane_%20_(GO:0005886)|complement_%20_component_%20_C3b_%20_binding_%20_(GO:0001851)_%7C_complement_%20_component_%20_C3b_%20_receptor_%20_activity_%20_(GO:0004877)_%7C_complement_%20_component_%20_C4b_%20_binding_%20_(GO:0001855)_%7C_complement_%20_component_%20_C4b_%20_receptor_%20_activity_%20_(GO:0001861)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 209849340 exm145908 A G . PASS FUNCOTATION=[G0S2|hg19|chr1|209849340|209849340|NONSTOP||SNP|A|A|G|g.chr1:209849340A>G|ENST00000367029.4|+|2|473|c.311A>G|c.(310-312)tAg>tGg|p.*104W|0.6309226932668329|CACGCCTCCTAGGAACTGTGG|RP1-28O10.1_ENST00000441672.1_RNA/RP1-28O10.1_ENST00000445272.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M72885|NM_015714.3|NP_056529.1|HGNC:30229|G0/G1_%20_switch_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"G0/G1switch_%20_2"||"putative_%20_lymphocyte_%20_G0/G1_%20_switch_%20_gene"|1q32.2|2014-11-18||2014-04-22|||50486|ENSG00000123689|1930693_%2C__%20_10645953|NM_015714|||CCDS1488|OTTHUMG00000036479|50486|614447|NM_015714|P27469|ENSG00000123689|uc001hhi.5|G0S2_HUMAN||Q6FGC8|P27469|cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097191)_%7C_positive_%20_regulation_%20_of_%20_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001238)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|lipid_%20_particle_%20_(GO:0005811)_%7C_mitochondrion_%20_(GO:0005739)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 209932121 rs10489341 C T . PASS FUNCOTATION=[TRAF3IP3|hg19|chr1|209932121|209932121|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:209932121C>T|ENST00000367024.1|+|1|||||0.5236907730673317|GAATTTCCAACGCTCAGGATC|TRAF3IP3_ENST00000367025.3_INTRON/TRAF3IP3_ENST00000367026.3_INTRON/TRAF3IP3_ENST00000400959.3_INTRON/TRAF3IP3_ENST00000010338.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||247|biliary_tract(2)_%7C_breast(49)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471100|||HGNC:30766|TRAF3_%20_interacting_%20_protein_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||T3JAM|"TRAF3_%20_interacting_%20_Jun_%20_N_%20_terminal_%20_kinase_%20_(JNK)_%20_activating_%20_modulator"|1q32.2|2016-10-05|||||80342|ENSG00000009790|14572659||||CCDS1490_%2C__%20_CCDS73023_%2C__%20_CCDS81422|OTTHUMG00000036480|80342|608255|NM_001287754|Q9Y228|ENSG00000009790|uc001hho.5|T3JAM_HUMAN||A1L464_%7C_A6NIU9_%7C_Q2YDB5_%7C_Q4VY06_%7C_Q7Z706|Q9Y228||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.8838_%2C_0.1162|false|false|1||false|true|false|TRAF3IP3:80342|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|10489341|209932121|false|false|0|true|0|false|0.849876_%2C_0.150124|false|false|true|SNV|true|0x05012848000515053f000100|1|false|119|rs10489341|] +1 217804722 exm149634 T C . PASS FUNCOTATION=[SPATA17|hg19|chr1|217804722|217804722|START_CODON_SNP||SNP|T|T|C|g.chr1:217804722T>C|ENST00000366933.4|+|1|57|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.43640897755610975|CAAGAGACCATGGCCACGTTA|GPATCH2_ENST00000366934.3_FIVE_PRIME_FLANK/GPATCH2_ENST00000366935.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471100|NM_138796.2|NP_620151.1|HGNC:25184|spermatogenesis_%20_associated_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||IQCH|"IQ_%20_motif_%20_containing_%20_H"|1q41|2014-11-19|||AK098591||128153|ENSG00000162814|16395525|NM_138796|||CCDS1519|OTTHUMG00000037875|128153|611032|NM_138796|Q96L03|ENSG00000162814|uc001hlh.2|SPT17_HUMAN||A5D6N2|Q96L03||cytoplasm_%20_(GO:0005737)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 225586971 exm152734 A T . PASS FUNCOTATION=[DNAH14|hg19|chr1|225586971|225586971|NONSTOP||SNP|A|A|T|g.chr1:225586971A>T|ENST00000445597.2|+|61|10524|c.10524A>T|c.(10522-10524)taA>taT|p.*3508Y|0.3790523690773067|ATGAAAAATAAATGTCCATAT|DNAH14_ENST00000439375.2_NONSTOP_p.*4516Y/DNAH14_ENST00000430092.1_NONSTOP_p.*4516Y|||||||||||||||||||||||||23|central_nervous_system(23)|||||||CH471098|||HGNC:2945|dynein_%20_axonemal_%20_heavy_%20_chain_%20_14|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf67|"dynein_%2C__%20_axonemal_%2C__%20_heavy_%20_polypeptide_%20_14"_%2C__%20_"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_67"|Dnahc14_%2C__%20_HL-18_%2C__%20_HL18_%2C__%20_DKFZp781B1548_%2C__%20_MGC27277||1q42.12|2016-10-05||2016-03-02|U61741||127602|ENSG00000185842|8812413|XM_059166|536|Dyneins_%2C__%20_axonemal|CCDS41472_%2C__%20_CCDS44322|OTTHUMG00000037447|127602|603341|NM_001145154|Q0VDD8|ENSG00000185842|uc001how.3|DYH14_HUMAN||A6NG62_%7C_A6NNL2_%7C_Q0VDD9_%7C_Q4VXC7_%7C_Q4VXG4_%7C_Q4VXG5_%7C_Q5VU33_%7C_Q5VU34|Q0VDD8|microtubule-based_%20_movement_%20_(GO:0007018)|cilium_%20_(GO:0005929)_%7C_cytoplasm_%20_(GO:0005737)_%7C_dynein_%20_complex_%20_(GO:0030286)_%7C_microtubule_%20_(GO:0005874)|ATP_%20_binding_%20_(GO:0005524)_%7C_microtubule_%20_motor_%20_activity_%20_(GO:0003777)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 228295961 exm154986 T G . PASS FUNCOTATION=[MRPL55|hg19|chr1|228295961|228295961|START_CODON_SNP||SNP|T|T|G|g.chr1:228295961T>G|ENST00000411464.2|-|3|795|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.5536159600997507|ACGGCCGCCATTCCTCCTTAC|MRPL55_ENST00000366735.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366734.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366733.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000336520.3_START_CODON_SNP_p.M1L/MRPL55_ENST00000366744.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000336300.5_START_CODON_SNP_p.M1L/MRPL55_ENST00000348259.5_START_CODON_SNP_p.M1L/MRPL55_ENST00000366736.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366740.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366739.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000295008.4_START_CODON_SNP_p.M1L/MRPL55_ENST00000366742.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366741.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366747.3_START_CODON_SNP_p.M1L/MRPL55_ENST00000366746.3_START_CODON_SNP_p.M1L/MRPL55_ENST00000366732.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366738.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000391867.3_START_CODON_SNP_p.M1L/MRPL55_ENST00000366731.5_START_CODON_SNP_p.M1L/MRPL55_ENST00000430433.1_START_CODON_SNP_p.M1L/C1orf35_ENST00000272139.4_FIVE_PRIME_FLANK/MRPL55_ENST00000465397.1_INTRON/C1orf35_ENST00000472617.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC052806|||HGNC:16686|mitochondrial_%20_ribosomal_%20_protein_%20_L55|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q42.13|2015-08-25|||AK056987||128308|ENSG00000162910||XM_059233|646|Mitochondrial_%20_ribosomal_%20_proteins|CCDS1567_%2C__%20_CCDS44325|OTTHUMG00000037965|128308|611859|NM_001321284|Q7Z7F7|ENSG00000162910|uc001hsa.5|RM55_HUMAN||Q5TBY3_%7C_Q5TBY6_%7C_Q6UWI8|Q7Z7F7|translation_%20_(GO:0006412)|mitochondrial_%20_large_%20_ribosomal_%20_subunit_%20_(GO:0005762)|structural_%20_constituent_%20_of_%20_ribosome_%20_(GO:0003735)||||true|false||false|false|||false|false|false|MRPL55:128308|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|140581823|228295961|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs140581823|] +1 228296020 variant.10429 C A . PASS FUNCOTATION=[MRPL55|hg19|chr1|228296020|228296020|DE_NOVO_START_IN_FRAME||SNP|C|C|A|g.chr1:228296020C>A|ENST00000366735.1|-|1|||||0.5286783042394015|GGCGTGCAACCTGCTAGGCAG|MRPL55_ENST00000366734.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366740.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366742.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000411464.2_SPLICE_SITE/MRPL55_ENST00000366733.1_SPLICE_SITE/MRPL55_ENST00000336520.3_SPLICE_SITE/MRPL55_ENST00000366744.1_SPLICE_SITE/MRPL55_ENST00000336300.5_SPLICE_SITE/MRPL55_ENST00000348259.5_SPLICE_SITE/MRPL55_ENST00000366736.1_SPLICE_SITE/MRPL55_ENST00000366739.1_SPLICE_SITE/MRPL55_ENST00000295008.4_SPLICE_SITE/MRPL55_ENST00000366741.1_SPLICE_SITE/MRPL55_ENST00000366747.3_SPLICE_SITE/MRPL55_ENST00000366746.3_SPLICE_SITE/MRPL55_ENST00000366732.1_SPLICE_SITE/MRPL55_ENST00000366738.1_SPLICE_SITE/MRPL55_ENST00000391867.3_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366731.5_SPLICE_SITE/MRPL55_ENST00000430433.1_SPLICE_SITE/C1orf35_ENST00000272139.4_FIVE_PRIME_FLANK/MRPL55_ENST00000465397.1_SPLICE_SITE/C1orf35_ENST00000472617.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC052806|||HGNC:16686|mitochondrial_%20_ribosomal_%20_protein_%20_L55|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q42.13|2015-08-25|||AK056987||128308|ENSG00000162910||XM_059233|646|Mitochondrial_%20_ribosomal_%20_proteins|CCDS1567_%2C__%20_CCDS44325|OTTHUMG00000037965|128308|611859|NM_001321284|Q7Z7F7|ENSG00000162910|uc001hsa.5|RM55_HUMAN||Q5TBY3_%7C_Q5TBY6_%7C_Q6UWI8|Q7Z7F7|translation_%20_(GO:0006412)|mitochondrial_%20_large_%20_ribosomal_%20_subunit_%20_(GO:0005762)|structural_%20_constituent_%20_of_%20_ribosome_%20_(GO:0003735)||||true|true||false|false|||false|false|false|MRPL55:128308|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|868542799|228296020|false|false|0|false|0|false|0.999931_%2C_6.86908e-005|false|false|true|SNV|false|0x050000600005000402000100|1|false|147|rs868542799|] +1 230979415 exm158328 C A . PASS FUNCOTATION=[C1orf198|hg19|chr1|230979415|230979415|DE_NOVO_START_OUT_FRAME||SNP|C|C|A|g.chr1:230979415C>A|ENST00000427697.2|-|3|||||0.6458852867830424|GGAACTCGGCCTCAGGCCCCT|C1orf198_ENST00000366663.5_MISSENSE_p.E204D/C1orf198_ENST00000470540.1_MISSENSE_p.E166D/C1orf198_ENST00000523410.1_MISSENSE_p.E74D|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL118511|||HGNC:25900|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_198|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ14525_%2C__%20_MGC10710_%2C__%20_FLJ16283_%2C__%20_DKFZp667D152_%2C__%20_FLJ38847||1q42.2|2017-08-01|||BC066649||84886|ENSG00000119280||NM_032800|||CCDS1587_%2C__%20_CCDS44330_%2C__%20_CCDS44331|OTTHUMG00000037790|84886||NM_001136494|Q9H425|ENSG00000119280|uc001hub.4|CA198_HUMAN||A8K8R8_%7C_B3KTW1_%7C_G5EA08|Q9H425||cytoplasm_%20_(GO:0005737)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 232651063 indel.10724 T TAGAA . PASS FUNCOTATION=[SIPA1L2|hg19|chr1|232651063|232651064|FRAME_SHIFT_INS||INS|-|-|AGAA|g.chr1:232651063_232651064insAGAA|ENST00000366630.1|-|2|382|c.22_23insTTCT|c.(22-24)caafs|p.Q8fs|0.4425|TTCTCTTCTTGTGACTGCCT|SIPA1L2_ENST00000262861.4_FRAME_SHIFT_INS_p.Q8fs|||||||||||||||||||||||||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(45)_%7C_large_intestine(11)_%7C_lung(1)_%7C_oesophagus(7)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(2)|||||||CH471098|||HGNC:23800|signal_%20_induced_%20_proliferation_%20_associated_%20_1_%20_like_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"signal-induced_%20_proliferation-associated_%20_1_%20_like_%20_2"|KIAA1389||1q42.2|2016-04-05||2016-04-05|AB037810||57568|ENSG00000116991||XM_045839|1220|PDZ_%20_domain_%20_containing|CCDS41474|OTTHUMG00000037820|57568|611609|NM_020808|Q9P2F8|ENSG00000116991|uc001hvg.4|SI1L2_HUMAN||Q2TV88_%7C_Q5VXR7_%7C_Q5VXR8_%7C_Q641Q4_%7C_Q8NA38_%7C_Q96DZ3_%7C_Q9H9F6|Q9P2F8|regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)||GTPase_%20_activator_%20_activity_%20_(GO:0005096)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 232940993 indel.10725 C CCAAAGCAG . PASS FUNCOTATION=[MAP10|hg19|chr1|232940993|232940994|FRAME_SHIFT_INS||INS|-|-|CAAAGCAG|g.chr1:232940993_232940994insCAAAGCAG|ENST00000418460.1|+|1|351|c.224_225insCAAAGCAG|c.(223-225)gctfs|p.H76fs|0.4925|AAAAAACGGCTCACAAGTAT||||||||||||||||||||||||||||||||||BC109122|NM_019090.2|NP_061963.2|HGNC:29265|microtubule_%20_associated_%20_protein_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA1383|"KIAA1383"|MTR120|"microtubule_%20_regulator_%20_120_%20_KDa"|1q42.2|2015-11-16|2013-02-12|2015-11-16|AB037804||54627|ENSG00000212916|23264731|NM_019090|||CCDS44334|OTTHUMG00000037819|54627||NM_019090|Q9P2G4|ENSG00000212916|uc001hvh.3|MAP10_HUMAN||A8K2F1_%7C_Q32MI1_%7C_Q58EZ9_%7C_Q5VV83|Q9P2G4|cytoplasmic_%20_microtubule_%20_organization_%20_(GO:0031122)_%7C_positive_%20_regulation_%20_of_%20_cytokinesis_%20_(GO:0032467)_%7C_regulation_%20_of_%20_microtubule-based_%20_process_%20_(GO:0032886)_%7C_spindle_%20_midzone_%20_assembly_%20_involved_%20_in_%20_mitosis_%20_(GO:0051256)|centrosome_%20_(GO:0005813)_%7C_cytoplasmic_%20_microtubule_%20_(GO:0005881)_%7C_midbody_%20_(GO:0030496)_%7C_mitotic_%20_spindle_%20_midzone_%20_(GO:1990023)_%7C_mitotic_%20_spindle_%20_pole_%20_(GO:0097431)|microtubule_%20_binding_%20_(GO:0008017)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 235295173 indel.10810 G GTA . PASS FUNCOTATION=[RBM34|hg19|chr1|235295173|235295174|FRAME_SHIFT_INS||INS|-|-|TA|g.chr1:235295173_235295174insTA|ENST00000408888.3|-|11|1379|c.1147_1148insTA|c.(1147-1149)cctfs|p.P383fs|0.3475|CCCTGCTTAGGTTTACTGAC|RBM34_ENST00000366606.3_FRAME_SHIFT_INS_p.P378fs/TOMM20_ENST00000366607.4_FIVE_PRIME_FLANK/RBM34_ENST00000495224.1_INTRON/SNORA14B_ENST00000384452.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||46|biliary_tract(2)_%7C_central_nervous_system(22)_%7C_pancreas(22)|||||||D38491|||HGNC:28965|RNA_%20_binding_%20_motif_%20_protein_%20_34|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA0117||1q42.3|2016-04-25|||||23029|ENSG00000188739|7788527_%2C__%20_15134903|NM_015014|725|RNA_%20_binding_%20_motif_%20_containing|CCDS41477|OTTHUMG00000039620|23029||NM_015014|P42696|ENSG00000188739|uc001hwn.3|RBM34_HUMAN||A8K8J7_%7C_Q8N2Z8_%7C_Q9H5A1|P42696||nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)|nucleotide_%20_binding_%20_(GO:0000166)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 241755453 exm163712 T C . PASS FUNCOTATION=[KMO|hg19|chr1|241755453|241755453|NONSTOP||SNP|T|T|C|g.chr1:241755453T>C|ENST00000366559.4|+|15|1770|c.1459T>C|c.(1459-1461)Tga>Cga|p.*487R|0.39650872817955113|CATTAGCAGGTGATAGAAAGG|KMO_ENST00000366557.4_NONSTOP_p.*453R/KMO_ENST00000366558.3_NONSTOP_p.*474R|||||||||||||||||||||||||379|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(289)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Y13153|NM_003679.4|NP_003670.2|HGNC:6381|kynurenine_%20_3-monooxygenase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kynurenine_%20_3-monooxygenase_%20_(kynurenine_%20_3-hydroxylase)"||"kynurenine_%20_3-hydroxylase"|1q43|2016-10-05||2016-06-03|AF056032|1.14.13.9|8564|ENSG00000117009|9237672|NM_003679|||CCDS1618|OTTHUMG00000039635|8564|603538|NM_003679|O15229|ENSG00000117009|uc009xgp.4|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 241964517 exm163990 A C . PASS FUNCOTATION=[WDR64|hg19|chr1|241964517|241964517|NONSTOP||SNP|A|A|C|g.chr1:241964517A>C|ENST00000366552.2|+|27|3453|c.3246A>C|c.(3244-3246)taA>taC|p.*1082Y|0.4014962593516209|TACCCAAGTAAGGAGAAAAAA|WDR64_ENST00000437684.2_NONSTOP_p.*915Y|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(2)_%7C_pancreas(22)|||||||BX322532|NM_144625.4|NP_653226.4|HGNC:26570|WD_%20_repeat_%20_domain_%20_64|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32978||1q43|2014-11-18|||AK057540||128025|ENSG00000162843||NM_144625|362|WD_%20_repeat_%20_domain_%20_containing||OTTHUMG00000039705|128025||NM_144625|B1ANS9|ENSG00000162843|uc001hzg.3|WDR64_HUMAN||B1ANT0_%7C_Q7Z573_%7C_Q96LY9|B1ANS9|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 248039789 exm167009 T C . PASS FUNCOTATION=[TRIM58|hg19|chr1|248039789|248039789|NONSTOP||SNP|T|T|C|g.chr1:248039789T>C|ENST00000366481.3|+|6|1507|c.1459T>C|c.(1459-1461)Taa>Caa|p.*487Q|0.39650872817955113|TGATCATCTCTAAAATTCTGT|OR2W3_ENST00000537741.1_INTRON|||||||||||||||||||||||||93|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||BC074748|NM_015431.3|NP_056246.3|HGNC:24150|tripartite_%20_motif_%20_containing_%20_58|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tripartite_%20_motif-containing_%20_58"|BIA2||1q44|2015-08-26||2011-01-25|AF327057||25893|ENSG00000162722||NM_015431|59_%7C_58|Tripartite_%20_motif_%20_containing_%7C_Ring_%20_finger_%20_proteins|CCDS1636|OTTHUMG00000040203|25893||NM_015431|Q8NG06|ENSG00000162722|uc001ido.4|TRI58_HUMAN||Q6B0H9|Q8NG06||intracellular_%20_(GO:0005622)|zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 248366370 exm167630 A G . PASS FUNCOTATION=[OR2M3|hg19|chr1|248366370|248366370|START_CODON_SNP||SNP|A|A|G|g.chr1:248366370A>G|ENST00000456743.1|+|1|39|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.4389027431421446|CATACACATCATGGCAAGGGA||||||||||||||||||||||||||230|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(171)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471148|NM_001004689.1|NP_001004689.1|HGNC:8269|olfactory_%20_receptor_%20_family_%20_2_%20_subfamily_%20_M_%20_member_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|OR2M6_%2C__%20_OR2M3P|"olfactory_%20_receptor_%2C__%20_family_%20_2_%2C__%20_subfamily_%20_M_%2C__%20_member_%20_3"|OST003||1q44|2015-12-09|2004-03-10|2015-12-09|||127062|ENSG00000228198||NM_001004689|149|Olfactory_%20_receptors_%2C__%20_family_%20_2|CCDS31107|OTTHUMG00000040459|127062||NM_001004689|Q8NG83|ENSG00000228198|uc010pzg.2|OR2M3_HUMAN||B9EH06_%7C_Q6IEY0|Q8NG83||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 248367306 exm167691 T A . PASS FUNCOTATION=[OR2M3|hg19|chr1|248367306|248367306|NONSTOP||SNP|T|T|A|g.chr1:248367306T>A|ENST00000456743.1|+|1|975|c.937T>A|c.(937-939)Tga>Aga|p.*313R|0.38403990024937656|GTCTGGAGAGTGAGTTACCTA||||||||||||||||||||||||||230|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(171)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471148|NM_001004689.1|NP_001004689.1|HGNC:8269|olfactory_%20_receptor_%20_family_%20_2_%20_subfamily_%20_M_%20_member_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|OR2M6_%2C__%20_OR2M3P|"olfactory_%20_receptor_%2C__%20_family_%20_2_%2C__%20_subfamily_%20_M_%2C__%20_member_%20_3"|OST003||1q44|2015-12-09|2004-03-10|2015-12-09|||127062|ENSG00000228198||NM_001004689|149|Olfactory_%20_receptors_%2C__%20_family_%20_2|CCDS31107|OTTHUMG00000040459|127062||NM_001004689|Q8NG83|ENSG00000228198|uc010pzg.2|OR2M3_HUMAN||B9EH06_%7C_Q6IEY0|Q8NG83||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 248801588 exm168726 C T . PASS FUNCOTATION=[OR2T35|hg19|chr1|248801588|248801588|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:248801588C>T|ENST00000317450.3|-|1|972|c.972G>A|c.(970-972)taG>taA|p.*324*|0.516209476309227|GGAGTCCCTGCTAGCCCTTCC||||||||||||||||||||||||||46|biliary_tract(2)_%7C_central_nervous_system(22)_%7C_pancreas(22)|||||||BK004475|NM_001001827.1|NP_001001827.1|HGNC:31257|olfactory_%20_receptor_%20_family_%20_2_%20_subfamily_%20_T_%20_member_%20_35|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"olfactory_%20_receptor_%2C__%20_family_%20_2_%2C__%20_subfamily_%20_T_%2C__%20_member_%20_35"|||1q44|2015-12-09||2015-12-09|BK004475||403244|ENSG00000177151||NM_001001827|149|Olfactory_%20_receptors_%2C__%20_family_%20_2|CCDS31123|OTTHUMG00000040380|403244||NM_001001827|Q8NGX2|ENSG00000177151|uc001ies.1|O2T35_HUMAN||Q6IEY7|Q8NGX2||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +10 5144336 indel.11443 T TA . PASS FUNCOTATION=[AKR1C3|hg19|chr10|5144336|5144337|FRAME_SHIFT_INS||INS|-|-|A|g.chr10:5144336_5144337insA|ENST00000380554.3|+|6|1266|c.614_615insA|c.(613-615)ttcfs|p.F205fs|0.34|TGCTAGATTTCTGCAAGTCG|AKR1C3_ENST00000605149.1_FRAME_SHIFT_INS_p.F182fs/AKR1C3_ENST00000439082.2_FRAME_SHIFT_INS_p.F86fs|||||||||||||||||||||||||250|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(171)_%7C_pancreas(22)|||||||S68288|NM_003739.5|NP_003730.4|HGNC:386|aldo-keto_%20_reductase_%20_family_%20_1_%20_member_%20_C3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HSD17B5|"hydroxysteroid_%20_(17-beta)_%20_dehydrogenase_%20_5"_%2C__%20_"aldo-keto_%20_reductase_%20_family_%20_1_%2C__%20_member_%20_C3_%20_(3-alpha_%20_hydroxysteroid_%20_dehydrogenase_%2C__%20_type_%20_II)"|KIAA0119_%2C__%20_DDX_%2C__%20_HAKRB_%2C__%20_PGFS|"dihydrodiol_%20_dehydrogenase_%20_X"_%2C__%20_"prostaglandin_%20_F_%20_synthase"_%2C__%20_"3-alpha_%20_hydroxysteroid_%20_dehydrogenase_%2C__%20_type_%20_II"|10p15.1|2016-10-05||2016-06-03|L43839|1.1.1.213_%2C__%20_1.1.1.188|8644|ENSG00000196139|7650035_%2C__%20_9792917|NM_003739|399|Aldo-keto_%20_reductases|CCDS7063_%2C__%20_CCDS73062|OTTHUMG00000017585|8644|603966|NM_001253908|P42330|ENSG00000196139|uc001ihu.4|AK1C3_HUMAN|Bimatoprost(DB00905)_%7C_Doxorubicin(DB00997)|A8K2V0_%7C_B4DL37_%7C_Q5T2L1_%7C_Q96DJ1_%7C_Q96KI8_%7C_Q99530_%7C_Q9UCX1_%7C_Q9UII3_%7C_Q9UKL9|P42330|arachidonic_%20_acid_%20_metabolic_%20_process_%20_(GO:0019369)_%7C_cellular_%20_response_%20_to_%20_cadmium_%20_ion_%20_(GO:0071276)_%7C_cellular_%20_response_%20_to_%20_calcium_%20_ion_%20_(GO:0071277)_%7C_cellular_%20_response_%20_to_%20_corticosteroid_%20_stimulus_%20_(GO:0071384)_%7C_cellular_%20_response_%20_to_%20_jasmonic_%20_acid_%20_stimulus_%20_(GO:0071395)_%7C_cellular_%20_response_%20_to_%20_prostaglandin_%20_stimulus_%20_(GO:0071379)_%7C_cellular_%20_response_%20_to_%20_reactive_%20_oxygen_%20_species_%20_(GO:0034614)_%7C_cellular_%20_response_%20_to_%20_starvation_%20_(GO:0009267)_%7C_cyclooxygenase_%20_pathway_%20_(GO:0019371)_%7C_daunorubicin_%20_metabolic_%20_process_%20_(GO:0044597)_%7C_doxorubicin_%20_metabolic_%20_process_%20_(GO:0044598)_%7C_farnesol_%20_catabolic_%20_process_%20_(GO:0016488)_%7C_G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)_%7C_keratinocyte_%20_differentiation_%20_(GO:0030216)_%7C_male_%20_gonad_%20_development_%20_(GO:0008584)_%7C_multicellular_%20_organismal_%20_macromolecule_%20_metabolic_%20_process_%20_(GO:0044259)_%7C_negative_%20_regulation_%20_of_%20_retinoic_%20_acid_%20_biosynthetic_%20_process_%20_(GO:1900053)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_death_%20_(GO:0010942)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_endothelial_%20_cell_%20_apoptotic_%20_process_%20_(GO:2000353)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051897)_%7C_positive_%20_regulation_%20_of_%20_reactive_%20_oxygen_%20_species_%20_metabolic_%20_process_%20_(GO:2000379)_%7C_progesterone_%20_metabolic_%20_process_%20_(GO:0042448)_%7C_prostaglandin_%20_metabolic_%20_process_%20_(GO:0006693)_%7C_protein_%20_import_%20_into_%20_nucleus_%2C__%20_translocation_%20_(GO:0000060)_%7C_regulation_%20_of_%20_retinoic_%20_acid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048385)_%7C_regulation_%20_of_%20_testosterone_%20_biosynthetic_%20_process_%20_(GO:2000224)_%7C_renal_%20_absorption_%20_(GO:0070293)_%7C_response_%20_to_%20_nutrient_%20_(GO:0007584)_%7C_response_%20_to_%20_prostaglandin_%20_(GO:0034694)_%7C_retinal_%20_metabolic_%20_process_%20_(GO:0042574)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_steroid_%20_metabolic_%20_process_%20_(GO:0008202)_%7C_testosterone_%20_biosynthetic_%20_process_%20_(GO:0061370)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_intracellular_%20_(GO:0005622)_%7C_nucleus_%20_(GO:0005634)|15-hydroxyprostaglandin-D_%20_dehydrogenase_%20_(NADP+)_%20_activity_%20_(GO:0047020)_%7C_alditol:NADP+_%20_1-oxidoreductase_%20_activity_%20_(GO:0004032)_%7C_aldo-keto_%20_reductase_%20_(NADP)_%20_activity_%20_(GO:0004033)_%7C_androsterone_%20_dehydrogenase_%20_activity_%20_(GO:0047023)_%7C_delta4-3-oxosteroid_%20_5beta-reductase_%20_activity_%20_(GO:0047787)_%7C_dihydrotestosterone_%20_17-beta-dehydrogenase_%20_activity_%20_(GO:0035410)_%7C_geranylgeranyl_%20_reductase_%20_activity_%20_(GO:0045550)_%7C_indanol_%20_dehydrogenase_%20_activity_%20_(GO:0047718)_%7C_ketoreductase_%20_activity_%20_(GO:0045703)_%7C_ketosteroid_%20_monooxygenase_%20_activity_%20_(GO:0047086)_%7C_oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_NAD(P)H_%2C__%20_quinone_%20_or_%20_similar_%20_compound_%20_as_%20_acceptor_%20_(GO:0016655)_%7C_phenanthrene_%20_9_%2C_10-monooxygenase_%20_activity_%20_(GO:0018636)_%7C_prostaglandin_%20_D2_%20_11-ketoreductase_%20_activity_%20_(GO:0036131)_%7C_prostaglandin_%20_F_%20_receptor_%20_activity_%20_(GO:0004958)_%7C_prostaglandin-F_%20_synthase_%20_activity_%20_(GO:0047017)_%7C_retinal_%20_dehydrogenase_%20_activity_%20_(GO:0001758)_%7C_retinol_%20_dehydrogenase_%20_activity_%20_(GO:0004745)_%7C_testosterone_%20_17-beta-dehydrogenase_%20_(NADP+)_%20_activity_%20_(GO:0047045)_%7C_testosterone_%20_dehydrogenase_%20_(NAD+)_%20_activity_%20_(GO:0047035)_%7C_trans-1_%2C_2-dihydrobenzene-1_%2C_2-diol_%20_dehydrogenase_%20_activity_%20_(GO:0047115)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +10 5204954 indel.11449 G GA . PASS FUNCOTATION=[AKR1CL1|hg19|chr10|5204954|5204955|FRAME_SHIFT_INS||INS|-|-|A|g.chr10:5204954_5204955insA|ENST00000334314.3|-|2|200|c.122_123insT|c.(121-123)accfs|p.K42fs|0.445|AGCCACTTTGGTGGCCTCGG|AKR1CL1_ENST00000465430.1_FIVE_PRIME_FLANK|Ovarian(129_%3B_1623_%20_1737_%20_25446_%20_28757_%20_47467)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC101205||||||||||||||||||||||||||||||||AKCL1_HUMAN||A6NF66_%7C_Q6ZN81|Q5T2L2||cytoplasm_%20_(GO:0005737)|oxidoreductase_%20_activity_%20_(GO:0016491)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +10 14867578 exm810770 G C . PASS FUNCOTATION=[CDNF|hg19|chr10|14867578|14867578|DE_NOVO_START_IN_FRAME||SNP|G|G|C|g.chr10:14867578G>C|ENST00000378442.1|-|5|||||0.4389027431421446|CTTCACTTAGGATCTTTGTGG|CDNF_ENST00000378441.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471072|||HGNC:24913|cerebral_%20_dopamine_%20_neurotrophic_%20_factor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ARMETL1|"arginine-rich_%2C__%20_mutated_%20_in_%20_early_%20_stage_%20_tumors-like_%20_1"||"conserved_%20_dopamine_%20_neurotrophic_%20_factor"|10p13|2015-09-11|2009-06-04|2009-06-04|BC037872||441549|ENSG00000185267|17611540|NM_001029954|||CCDS31148|OTTHUMG00000017713|441549|611233|NM_001029954|Q49AH0|ENSG00000185267|uc001inb.3|CDNF_HUMAN||A2RUU0_%7C_B4DVW3|Q49AH0||extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +10 35426755 rs17499247 A G . PASS FUNCOTATION=[CREM|hg19|chr10|35426755|35426755|DE_NOVO_START_OUT_FRAME||SNP|A|A|G|g.chr10:35426755A>G|ENST00000345491.3|+|2|||||0.26683291770573564|GATTACAAATATCTTAACAAT|CREM_ENST00000374721.3_DE_NOVO_START_OUT_FRAME/CREM_ENST00000354759.3_DE_NOVO_START_OUT_FRAME/CREM_ENST00000429130.3_DE_NOVO_START_OUT_FRAME/CREM_ENST00000460270.1_INTRON/CREM_ENST00000374726.3_INTRON/CREM_ENST00000474362.1_INTRON/CREM_ENST00000489321.1_INTRON/CREM_ENST00000469949.2_INTRON/CREM_ENST00000395895.2_DE_NOVO_START_OUT_FRAME/CREM_ENST00000333809.8_DE_NOVO_START_OUT_FRAME/CREM_ENST00000439705.1_DE_NOVO_START_OUT_FRAME/CREM_ENST00000374728.3_INTRON/CREM_ENST00000337656.4_FIVE_PRIME_FLANK/CREM_ENST00000374734.3_FIVE_PRIME_FLANK/CREM_ENST00000479070.1_FIVE_PRIME_FLANK/CREM_ENST00000489388.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z15159|NM_181571.2|NP_853549.1|HGNC:2352|cAMP_%20_responsive_%20_element_%20_modulator|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||hCREM-2||10p11.21|2016-10-05|||||1390|ENSG00000095794|1461747_%2C__%20_7916662|NM_001881|506|Basic_%20_leucine_%20_zipper_%20_proteins|CCDS7180_%2C__%20_CCDS7181_%2C__%20_CCDS7182_%2C__%20_CCDS7183_%2C__%20_CCDS7184_%2C__%20_CCDS7185_%2C__%20_CCDS7186_%2C__%20_CCDS7187_%2C__%20_CCDS7188_%2C__%20_CCDS31181_%2C__%20_CCDS53519_%2C__%20_CCDS53520_%2C__%20_CCDS53517_%2C__%20_CCDS53518_%2C__%20_CCDS53521_%2C__%20_CCDS58074_%2C__%20_CCDS58075_%2C__%20_CCDS58076|OTTHUMG00000017953|1390|123812|NM_001267562|Q03060|ENSG00000095794|uc001iyb.4|CREM_HUMAN||A8K014_%7C_A8K3J7_%7C_A8K6A1_%7C_A8MPQ2_%7C_B4DXC1_%7C_C9J785_%7C_C9JZ10_%7C_E9PAR4_%7C_E9PHM1_%7C_O75519_%7C_Q14501_%7C_Q14503_%7C_Q14504_%7C_Q14505_%7C_Q14506_%7C_Q15731_%7C_Q16114_%7C_Q16116_%7C_Q5T9H7_%7C_Q5W1A6_%7C_Q5W1A7_%7C_Q5W1A8_%7C_Q5W1A9_%7C_Q5W1B0_%7C_Q5W1B2_%7C_Q7Z2Q6_%7C_Q8IVD4_%7C_Q96AG7_%7C_Q9NZ98_%7C_Q9NZ99_%7C_Q9NZB9|Q03060|cell_%20_differentiation_%20_(GO:0030154)_%7C_glycosphingolipid_%20_metabolic_%20_process_%20_(GO:0006687)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_rhythmic_%20_process_%20_(GO:0048511)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_spermatogenesis_%20_(GO:0007283)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)|cAMP_%20_response_%20_element_%20_binding_%20_protein_%20_binding_%20_(GO:0008140)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +10 38344447 indel.12316 T TA . PASS FUNCOTATION=[ZNF33A|hg19|chr10|38344447|38344448|FRAME_SHIFT_INS||INS|-|-|A|g.chr10:38344447_38344448insA|ENST00000374618.3|+|5|1573|c.1395_1396insA|c.(1396-1398)gagfs|p.E466fs|0.4025|TCACACAGGTGAGAAACCTT|ZNF33A_ENST00000458705.2_FRAME_SHIFT_INS_p.E465fs/ZNF33A_ENST00000469037.2_INTRON/ZNF33A_ENST00000432900.2_FRAME_SHIFT_INS_p.E472fs/ZNF33A_ENST00000307441.9_FRAME_SHIFT_INS_p.E465fs|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X68689|NM_006974.2|NP_008905.1|HGNC:13096|zinc_%20_finger_%20_protein_%20_33A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZNF33_%2C__%20_ZNF11A|"zinc_%20_finger_%20_protein_%20_33a_%20_(KOX_%20_31)"_%2C__%20_"zinc_%20_finger_%20_protein_%20_11A"|KOX5_%2C__%20_KOX31_%2C__%20_KIAA0065_%2C__%20_FLJ23404_%2C__%20_ZZAPK|"zinc_%20_finger_%20_and_%20_ZAK_%20_associated_%20_protein_%20_with_%20_KRAB_%20_domain"|10p11.1|2016-10-05||2005-03-18|D31763||7581|ENSG00000189180|2014798_%2C__%20_8464732|NM_006974|28|Zinc_%20_fingers_%20_C2H2-type|CCDS31182_%2C__%20_CCDS60514_%2C__%20_CCDS73088_%2C__%20_CCDS73089_%2C__%20_CCDS44372|OTTHUMG00000017983|7581|194521|NM_001278170|Q06730|ENSG00000189180|uc001izh.4|ZN33A_HUMAN||A8K9X9_%7C_B4E0M8_%7C_F6TH33_%7C_F8WAJ5_%7C_P17013_%7C_Q5VZ86|Q06730|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +10 55955567 exm825941 T C . PASS FUNCOTATION=[PCDH15|hg19|chr10|55955567|55955567|DE_NOVO_START_OUT_FRAME||SNP|T|T|C|g.chr10:55955567T>C|ENST00000409834.1|-|3|||||0.34663341645885287|CATTGTAAAATATGGACTTTG|PCDH15_ENST00000373965.2_MISSENSE_p.Y394C/PCDH15_ENST00000361849.3_MISSENSE_p.Y394C/PCDH15_ENST00000395433.1_MISSENSE_p.Y372C/PCDH15_ENST00000320301.6_MISSENSE_p.Y394C/PCDH15_ENST00000395430.1_MISSENSE_p.Y394C/PCDH15_ENST00000395438.1_MISSENSE_p.Y394C/PCDH15_ENST00000395445.1_MISSENSE_p.Y394C/PCDH15_ENST00000373955.1_MISSENSE_p.Y394C/PCDH15_ENST00000373957.3_MISSENSE_p.Y372C/PCDH15_ENST00000395446.1_MISSENSE_p.Y394C/PCDH15_ENST00000395440.1_MISSENSE_p.Y394C/PCDH15_ENST00000395442.1_INTRON/PCDH15_ENST00000414778.1_MISSENSE_p.Y399C/PCDH15_ENST00000395432.2_MISSENSE_p.Y357C/PCDH15_ENST00000437009.1_MISSENSE_p.Y394C|||||||||||||||||||||||||575|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(185)_%7C_lung(101)_%7C_pancreas(112)_%7C_upper_aerodigestive_tract(120)|||||||AL603835|||HGNC:14674|protocadherin_%20_related_%20_15|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|USH1F_%2C__%20_DFNB23|"deafness_%2C__%20_autosomal_%20_recessive_%20_23"_%2C__%20_"protocadherin_%20_15"|CDHR15|"cadherin-related_%20_family_%20_member_%20_15"|10q21.1|2016-06-08||2016-06-08|AY029205||65217|ENSG00000150275|11398101_%2C__%20_14570705|NM_033056|1152_%7C_24|Deafness_%20_associated_%20_genes_%7C_Cadherin_%20_related|CCDS7248_%2C__%20_CCDS44400_%2C__%20_CCDS44401_%2C__%20_CCDS44403_%2C__%20_CCDS44404_%2C__%20_CCDS73134_%2C__%20_CCDS73135_%2C__%20_CCDS73136_%2C__%20_CCDS73137_%2C__%20_CCDS73138|OTTHUMG00000018259|65217|605514|NM_001142763|Q96QU1|ENSG00000150275|uc057tid.1|PCD15_HUMAN||A6NL19_%7C_C6ZEF5_%7C_C6ZEF6_%7C_C6ZEF7_%7C_Q5VY38_%7C_Q5VY39_%7C_Q6TRH8_%7C_Q8NDB9_%7C_Q96QT8|Q96QU1|equilibrioception_%20_(GO:0050957)_%7C_homophilic_%20_cell_%20_adhesion_%20_(GO:0007156)_%7C_photoreceptor_%20_cell_%20_maintenance_%20_(GO:0045494)_%7C_sensory_%20_perception_%20_of_%20_light_%20_stimulus_%20_(GO:0050953)_%7C_sensory_%20_perception_%20_of_%20_sound_%20_(GO:0007605)|extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_photoreceptor_%20_outer_%20_segment_%20_(GO:0001750)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_stereocilium_%20_(GO:0032420)_%7C_synapse_%20_(GO:0045202)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +10 70182529 indel.12828 A AAG . PASS FUNCOTATION=[DNA2|hg19|chr10|70182529|70182530|FRAME_SHIFT_INS||INS|-|-|AG|g.chr10:70182529_70182530insAG|ENST00000358410.3|-|15|2378|c.2326_2327insCT|c.(2326-2328)cttfs|p.L776fs|0.3525|GAAAAAAAAAGGGGGCCCAG|DNA2_ENST00000399180.2_FRAME_SHIFT_INS_p.L862fs/DNA2_ENST00000399179.2_INTRON|||||||||||||||||||||||||||||||||D42046|NM_001080449.2|NP_001073918.2|HGNC:2939|DNA_%20_replication_%20_helicase/nuclease_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DNA2L|"DNA2_%20_DNA_%20_replication_%20_helicase_%20_2-like_%20_(yeast)"_%2C__%20_"DNA_%20_replication_%20_helicase_%20_2_%20_homolog_%20_(yeast)"|KIAA0083||10q21.3|2016-10-05|2008-01-08|2013-05-13|D42046||1763|ENSG00000138346|8938459_%2C__%20_17032657_%2C__%20_23352259||1169|UPF1_%20_like_%20_RNA_%20_helicases|CCDS44415|OTTHUMG00000018352|1763|601810|NM_001080449|P51530|ENSG00000138346|uc057tqx.1|DNA2_HUMAN||Q2NKM1_%7C_Q5TC49_%7C_Q5TC50_%7C_Q6P455_%7C_Q6PI80_%7C_Q7Z6H9_%7C_Q8N346|P51530|ATP_%20_catabolic_%20_process_%20_(GO:0006200)_%7C_base-excision_%20_repair_%20_(GO:0006284)_%7C_DNA_%20_catabolic_%20_process_%2C__%20_endonucleolytic_%20_(GO:0000737)_%7C_DNA_%20_double-strand_%20_break_%20_processing_%20_(GO:0000729)_%7C_DNA_%20_duplex_%20_unwinding_%20_(GO:0032508)_%7C_DNA_%20_replication_%20_(GO:0006260)_%7C_DNA_%20_replication_%20_checkpoint_%20_(GO:0000076)_%7C_DNA_%20_replication_%2C__%20_Okazaki_%20_fragment_%20_processing_%20_(GO:0033567)_%7C_DNA_%20_replication_%2C__%20_removal_%20_of_%20_RNA_%20_primer_%20_(GO:0043137)_%7C_DNA_%20_strand_%20_elongation_%20_involved_%20_in_%20_DNA_%20_replication_%20_(GO:0006271)_%7C_mitochondrial_%20_DNA_%20_repair_%20_(GO:0043504)_%7C_mitochondrial_%20_DNA_%20_replication_%20_(GO:0006264)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_positive_%20_regulation_%20_of_%20_DNA_%20_replication_%20_(GO:0045740)_%7C_telomere_%20_maintenance_%20_(GO:0000723)_%7C_telomere_%20_maintenance_%20_via_%20_recombination_%20_(GO:0000722)_%7C_telomere_%20_maintenance_%20_via_%20_semi-conservative_%20_replication_%20_(GO:0032201)|mitochondrial_%20_nucleoid_%20_(GO:0042645)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|4_%20_iron_%2C__%20_4_%20_sulfur_%20_cluster_%20_binding_%20_(GO:0051539)_%7C_5'-3'_%20_DNA_%20_helicase_%20_activity_%20_(GO:0043139)_%7C_5'-flap_%20_endonuclease_%20_activity_%20_(GO:0017108)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_ATPase_%20_activity_%20_(GO:0016887)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_DNA_%20_helicase_%20_activity_%20_(GO:0003678)_%7C_helicase_%20_activity_%20_(GO:0004386)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_nuclease_%20_activity_%20_(GO:0004518)_%7C_single-stranded_%20_DNA-dependent_%20_ATPase_%20_activity_%20_(GO:0043142)_%7C_site-specific_%20_endodeoxyribonuclease_%20_activity_%2C__%20_specific_%20_for_%20_altered_%20_base_%20_(GO:0016890)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +10 90988034 indel.13572 C CGG . PASS FUNCOTATION=[LIPA|hg19|chr10|90988034|90988035|FRAME_SHIFT_INS||INS|-|-|GG|g.chr10:90988034_90988035insGG|ENST00000336233.5|-|4|674|c.350_351insCC|c.(349-351)atgfs|p.M117fs|0.4325|GCTGTTGCCCATCCACACGT|LIPA_ENST00000456827.1_FRAME_SHIFT_INS_p.M117fs/LIPA_ENST00000371837.1_FRAME_SHIFT_INS_p.M61fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z31690|||HGNC:6617|lipase_%20_A_%2C__%20_lysosomal_%20_acid_%20_type|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"lipase_%20_A_%2C__%20_lysosomal_%20_acid_%2C__%20_cholesterol_%20_esterase"|LAL_%2C__%20_CESD|"Wolman_%20_disease"_%2C__%20_"lysosomal_%20_acid_%20_lipase"_%2C__%20_"sterol_%20_esterase"|10q23.31|2016-10-05||2016-02-12|M74775|3.1.1.13|3988|ENSG00000107798|8432549|NM_000235|464|Lipases|CCDS7401_%2C__%20_CCDS73160|OTTHUMG00000018716|3988|613497|NM_000235|P38571|ENSG00000107798|uc001kga.6|LICH_HUMAN||B2RBH5_%7C_D3DR29_%7C_Q16529_%7C_Q53H21_%7C_Q5T074_%7C_Q5T771_%7C_Q96EJ0|P38571|cell_%20_morphogenesis_%20_(GO:0000902)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_cytokine_%20_production_%20_(GO:0001816)_%7C_homeostasis_%20_of_%20_number_%20_of_%20_cells_%20_within_%20_a_%20_tissue_%20_(GO:0048873)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_lipid_%20_catabolic_%20_process_%20_(GO:0016042)_%7C_lung_%20_development_%20_(GO:0030324)_%7C_tissue_%20_remodeling_%20_(GO:0048771)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_lysosome_%20_(GO:0005764)|lipase_%20_activity_%20_(GO:0016298)_%7C_sterol_%20_esterase_%20_activity_%20_(GO:0004771)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +10 95121241 indel.13733 G GGT . PASS FUNCOTATION=[MYOF|hg19|chr10|95121241|95121242|FRAME_SHIFT_INS||INS|-|-|GT|g.chr10:95121241_95121242insGT|ENST00000359263.4|-|28|2942|c.2941_2942insAC|c.(2941-2943)tctfs|p.S981fs|0.47|ATGTCATAAGACCATGCATC|MYOF_ENST00000358334.5_FRAME_SHIFT_INS_p.S968fs/MYOF_ENST00000371501.4_FRAME_SHIFT_INS_p.S981fs/MYOF_ENST00000371502.4_FRAME_SHIFT_INS_p.S981fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC052617|NM_013451.3|NP_038479.1|HGNC:3656|myoferlin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FER1L3|"fer-1_%20_(C.elegans)-like_%20_3_%20_(myoferlin)"_%2C__%20_"fer-1-like_%20_3_%2C__%20_myoferlin_%20_(C._%20_elegans)"|KIAA1207|"fer-1-like_%20_family_%20_member_%20_3"|10q23.33|2016-10-05|2008-11-26|2008-11-26|AB033033||26509|ENSG00000138119|10607832_%2C__%20_10995573_%2C__%20_17702744|NM_013451|828|Ferlin_%20_family|CCDS41550_%2C__%20_CCDS41551|OTTHUMG00000018772|26509|604603|NM_013451|Q9NZM1|ENSG00000138119|uc001kin.4|MYOF_HUMAN||B3KQN5_%7C_Q5VWW2_%7C_Q5VWW3_%7C_Q5VWW4_%7C_Q5VWW5_%7C_Q7Z642_%7C_Q8IWH0_%7C_Q9HBU3_%7C_Q9NZM0_%7C_Q9ULL3_%7C_Q9Y4U4|Q9NZM1|blood_%20_circulation_%20_(GO:0008015)_%7C_cellular_%20_response_%20_to_%20_heat_%20_(GO:0034605)_%7C_muscle_%20_contraction_%20_(GO:0006936)_%7C_plasma_%20_membrane_%20_repair_%20_(GO:0001778)_%7C_regulation_%20_of_%20_vascular_%20_endothelial_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030947)|caveola_%20_(GO:0005901)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_plasma_%20_membrane_%20_(GO:0005886)|phospholipid_%20_binding_%20_(GO:0005543)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +10 102048159 indel.14208 C CA . PASS FUNCOTATION=[PKD2L1|hg19|chr10|102048159|102048160|FRAME_SHIFT_INS||INS|-|-|A|g.chr10:102048159_102048160insA|ENST00000318222.3|-|16|2795|c.2411_2412insT|c.(2410-2412)aggfs|p.R804fs|0.465|CACTTAACTCCTCTGCAACG|PKD2L1_ENST00000338519.3_FRAME_SHIFT_INS_p.R729fs/PKD2L1_ENST00000353274.3_THREE_PRIME_UTR/BLOC1S2_ENST00000370372.2_FIVE_PRIME_FLANK/BLOC1S2_ENST00000441611.1_FIVE_PRIME_FLANK/BLOC1S2_ENST00000361832.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(12)_%7C_pancreas(22)|||||||CH471066|NM_016112.2|NP_057196.2|HGNC:9011|polycystin_%20_2_%20_like_%20_1_%2C__%20_transient_%20_receptor_%20_potential_%20_cation_%20_channel|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PKD2L_%2C__%20_PKDL|"polycystic_%20_kidney_%20_disease_%20_2-like_%20_1"|PCL_%2C__%20_TRPP3|"transient_%20_receptor_%20_potential_%20_cation_%20_channel_%2C__%20_subfamily_%20_P_%2C__%20_member_%20_3"|10q24.31|2016-01-28||2016-01-28|AF094827||9033|ENSG00000107593|9878261_%2C__%20_9748274|NM_016112|249|Transient_%20_receptor_%20_potential_%20_cation_%20_channels|CCDS7492|OTTHUMG00000018910|9033|604532|NM_001253837|Q9P0L9|ENSG00000107593|uc001kqx.2|PK2L1_HUMAN||O75972_%7C_Q5W039_%7C_Q9UP35_%7C_Q9UPA2|Q9P0L9|cation_%20_transport_%20_(GO:0006812)_%7C_cellular_%20_response_%20_to_%20_acidic_%20_pH_%20_(GO:0071468)_%7C_detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_sour_%20_taste_%20_(GO:0001581)_%7C_detection_%20_of_%20_mechanical_%20_stimulus_%20_(GO:0050982)_%7C_potassium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0071805)_%7C_protein_%20_homotrimerization_%20_(GO:0070207)_%7C_sensory_%20_perception_%20_of_%20_sour_%20_taste_%20_(GO:0050915)_%7C_smoothened_%20_signaling_%20_pathway_%20_(GO:0007224)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)|calcium_%20_channel_%20_complex_%20_(GO:0034704)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_membrane_%20_(GO:0016020)_%7C_nonmotile_%20_primary_%20_cilium_%20_(GO:0031513)_%7C_plasma_%20_membrane_%20_(GO:0005886)|alpha-actinin_%20_binding_%20_(GO:0051393)_%7C_calcium_%20_activated_%20_cation_%20_channel_%20_activity_%20_(GO:0005227)_%7C_calcium_%20_channel_%20_activity_%20_(GO:0005262)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_calcium-activated_%20_potassium_%20_channel_%20_activity_%20_(GO:0015269)_%7C_cation_%20_channel_%20_activity_%20_(GO:0005261)_%7C_cytoskeletal_%20_protein_%20_binding_%20_(GO:0008092)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_muscle_%20_alpha-actinin_%20_binding_%20_(GO:0051371)_%7C_sodium_%20_channel_%20_activity_%20_(GO:0005272)_%7C_sour_%20_taste_%20_receptor_%20_activity_%20_(GO:0033040)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +10 102684419 indel.14264 A AT . PASS FUNCOTATION=[FAM178A|hg19|chr10|102684419|102684420|FRAME_SHIFT_INS||INS|-|-|T|g.chr10:102684419_102684420insT|ENST00000238961.4|+|5|2203|c.1661_1662insT|c.(1660-1662)aagfs|p.K554fs|0.4225|CTCCTACAAAGTCTCCCCCT|FAM178A_ENST00000370269.3_FRAME_SHIFT_INS_p.K554fs/FAM178A_ENST00000370271.3_FRAME_SHIFT_INS_p.K554fs|||||||||||||||||||||||||||||||||BC030565|NM_018121.3|NP_060591.3||||||||||||||||||||||||||||||F178A_HUMAN||A8K950_%7C_B1AL17_%7C_Q5W0L8_%7C_Q6GMU6_%7C_Q9NPE8|Q8IX21||chromatin_%20_(GO:0000785)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +10 120795681 indel.14858 TCTCGGTCTCTTG T . PASS FUNCOTATION=[EIF3A|hg19|chr10|120795682|120795693|IN_FRAME_DEL||DEL|CTCGGTCTCTTG|CTCGGTCTCTTG|-|g.chr10:120795682_120795693delCTCGGTCTCTTG|ENST00000369144.3|-|22|4147_4158|c.4007_4018delCAAGAGACCGAG|c.(4006-4020)tcaagagaccgagaa>taa|p.1336_1340SRDRE>*|0.3859223300970874|CGGTCTCTTTCTCGGTCTCTTGAAAGAGCTGG|EIF3A_ENST00000541549.1_IN_FRAME_DEL_p.1302_1306SRDRE>*|||||||||||||||||||||||||185|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||U78311|NM_003750.2|NP_003741.1|HGNC:3271|eukaryotic_%20_translation_%20_initiation_%20_factor_%20_3_%20_subunit_%20_A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EIF3_%2C__%20_EIF3S10|"eukaryotic_%20_translation_%20_initiation_%20_factor_%20_3_%2C__%20_subunit_%20_10_%20_theta_%2C__%20_150/170kDa"_%2C__%20_"eukaryotic_%20_translation_%20_initiation_%20_factor_%20_3_%2C__%20_subunit_%20_A"|eIF3-theta_%2C__%20_eIF3-p170_%2C__%20_KIAA0139_%2C__%20_eIF3a_%2C__%20_TIF32||10q26.11|2015-12-04|2007-07-27|2015-12-04|U78311||8661|ENSG00000107581|9054404_%2C__%20_8590280|NM_003750|1121|Eukaryotic_%20_translation_%20_initiation_%20_factor_%20_3|CCDS7608|OTTHUMG00000019144|8661|602039|NM_003750|Q14152|ENSG00000107581|uc001ldu.4|IF6_HUMAN||B7ZBG9_%7C_Q6IBN8_%7C_Q96TD5|P56537|mature_%20_ribosome_%20_assembly_%20_(GO:0042256)_%7C_ribosomal_%20_large_%20_subunit_%20_biogenesis_%20_(GO:0042273)_%7C_ribosomal_%20_subunit_%20_export_%20_from_%20_nucleus_%20_(GO:0000054)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_lamin_%20_filament_%20_(GO:0005638)_%7C_nucleus_%20_(GO:0005634)|ribosomal_%20_large_%20_subunit_%20_binding_%20_(GO:0043023)_%7C_ribosome_%20_binding_%20_(GO:0043022)_%7C_translation_%20_initiation_%20_factor_%20_activity_%20_(GO:0003743)||||true|false||false|false|||false|false|false|EIF3A:8661|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|766037789|120795682|false|false|0|false|0|false||false|false|false|DIV|false|0x050000000005000402000200|1|false|144|rs766037789|] +10 121541194 indel.14880 A AG . PASS FUNCOTATION=[INPP5F|hg19|chr10|121541194|121541195|FRAME_SHIFT_INS||INS|-|-|G|g.chr10:121541194_121541195insG|ENST00000361976.2|+|3|392|c.226_227insG|c.(226-228)aaafs|p.K76fs|0.3625|TTGGTGGGCAAACTCCCAGG|INPP5F_ENST00000369081.1_FIVE_PRIME_UTR/INPP5F_ENST00000369083.3_FRAME_SHIFT_INS_p.K76fs|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471066|NM_014937.3|NP_055752.1|HGNC:17054|inositol_%20_polyphosphate-5-phosphatase_%20_F|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SAC2_%2C__%20_KIAA0966_%2C__%20_hSac2||10q26.11|2017-03-24|||AB023183||22876|ENSG00000198825|11274189_%2C__%20_25869669|NM_014937|1079|Phosphoinositide_%20_phosphatases|CCDS7616_%2C__%20_CCDS58098_%2C__%20_CCDS81513|OTTHUMG00000019158|22876|609389|NM_001243194|Q9Y2H2|ENSG00000198825|uc001leo.4|OCRL_HUMAN||A6NKI1_%7C_A8KAP2_%7C_B7ZLX2_%7C_O60800_%7C_Q15684_%7C_Q15774_%7C_Q4VY09_%7C_Q4VY10_%7C_Q5JQF1_%7C_Q5JQF2_%7C_Q9UJG5_%7C_Q9UMA5|Q01968|cilium_%20_assembly_%20_(GO:0042384)_%7C_in_%20_utero_%20_embryonic_%20_development_%20_(GO:0001701)_%7C_inositol_%20_phosphate_%20_metabolic_%20_process_%20_(GO:0043647)_%7C_lipid_%20_metabolic_%20_process_%20_(GO:0006629)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_dephosphorylation_%20_(GO:0046856)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_positive_%20_regulation_%20_of_%20_Rac_%20_GTPase_%20_activity_%20_(GO:0032855)_%7C_regulation_%20_of_%20_Rac_%20_GTPase_%20_activity_%20_(GO:0032314)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_coated_%20_pit_%20_(GO:0005905)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_early_%20_endosome_%20_(GO:0005769)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_stack_%20_(GO:0005795)_%7C_Golgi-associated_%20_vesicle_%20_(GO:0005798)_%7C_nucleus_%20_(GO:0005634)_%7C_photoreceptor_%20_outer_%20_segment_%20_(GO:0001750)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_trans-Golgi_%20_network_%20_(GO:0005802)|inositol_%20_phosphate_%20_phosphatase_%20_activity_%20_(GO:0052745)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_5-phosphatase_%20_activity_%20_(GO:0004439)_%7C_Rac_%20_GTPase_%20_activator_%20_activity_%20_(GO:0030675)_%7C_Rac_%20_GTPase_%20_binding_%20_(GO:0048365)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +10 124794031 exm862402 G T . PASS FUNCOTATION=[ACADSB|hg19|chr10|124794031|124794031|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr10:124794031G>T|ENST00000368869.4|+|2|||||0.40648379052369077|AAAGAGTTCAGGTAAGTAAAT|ACADSB_ENST00000358776.4_SPLICE_SITE_p.V68F/ACADSB_ENST00000496730.2_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL731666|||HGNC:91|acyl-CoA_%20_dehydrogenase_%20_short/branched_%20_chain|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"acyl-Coenzyme_%20_A_%20_dehydrogenase_%2C__%20_short/branched_%20_chain"|SBCAD_%2C__%20_ACAD7||10q26.13|2017-09-21||2017-09-21|U12778|1.3.99.-|36|ENSG00000196177|7698750_%2C__%20_7759115|NM_001609|974|Acyl-CoA_%20_dehydrogenase_%20_family|CCDS7634_%2C__%20_CCDS81518|OTTHUMG00000019200|36|600301|NM_001609|P45954|ENSG00000196177|uc001lhb.4|ACDSB_HUMAN|L-Isoleucine(DB00167)_%7C_Valproic_%20_Acid(DB00313)|B4DQ51_%7C_Q5SQN6_%7C_Q96CX7|P45954|branched-chain_%20_amino_%20_acid_%20_catabolic_%20_process_%20_(GO:0009083)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_fatty_%20_acid_%20_metabolic_%20_process_%20_(GO:0006631)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_mitochondrion_%20_(GO:0005739)|acyl-CoA_%20_dehydrogenase_%20_activity_%20_(GO:0003995)_%7C_flavin_%20_adenine_%20_dinucleotide_%20_binding_%20_(GO:0050660)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +11 4664657 rs7925271 C T . PASS FUNCOTATION=[OR51E1|hg19|chr11|4664657|4664657|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr11:4664657C>T|ENST00000396952.5|+|1|||||0.486284289276808|GTGAATTCCACGCTTAGCAAG||||||||||||||||||||||||||116|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(22)_%7C_large_intestine(35)_%7C_lung(3)_%7C_pancreas(22)|||||||CH471064|NM_152430.3|NP_689643.2|HGNC:15194|olfactory_%20_receptor_%20_family_%20_51_%20_subfamily_%20_E_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|OR51E1P_%2C__%20_OR52A3P_%2C__%20_GPR164|"olfactory_%20_receptor_%2C__%20_family_%20_51_%2C__%20_subfamily_%20_E_%2C__%20_member_%20_1_%20_pseudogene"_%2C__%20_"olfactory_%20_receptor_%2C__%20_family_%20_51_%2C__%20_subfamily_%20_E_%2C__%20_member_%20_1"|GPR136||11p15.4|2015-12-09|2004-11-06|2015-12-09|AY775731||143503|ENSG00000180785||NM_152430|164|Olfactory_%20_receptors_%2C__%20_family_%20_51|CCDS31358|OTTHUMG00000157024|143503|611267|NM_152430|Q8TCB6|ENSG00000180785|uc001lzi.5|O51E1_HUMAN||A8KAM6_%7C_Q5S4P5_%7C_Q66X57_%7C_Q6IF93|Q8TCB6||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +11 4945317 indel.16143 C CT . PASS FUNCOTATION=[OR51G1|hg19|chr11|4945317|4945318|FRAME_SHIFT_INS||INS|-|-|T|g.chr11:4945317_4945318insT|ENST00000321961.2|-|1|321|c.252_253insA|c.(253-255)ggcfs|p.G85fs|0.5|AGAAAATGCCCAGCACAGTG|MMP26_ENST00000380390.1_INTRON/MMP26_ENST00000477339.1_INTRON|||||||||||||||||||||||||68|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BK004286|NM_001005237.1|NP_001005237.1|HGNC:14738|olfactory_%20_receptor_%20_family_%20_51_%20_subfamily_%20_G_%20_member_%20_1_%20_(gene/pseudogene)|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|OR51G3P|"olfactory_%20_receptor_%2C__%20_family_%20_51_%2C__%20_subfamily_%20_G_%2C__%20_member_%20_1_%20_(gene/pseudogene)"|||11p15.4|2016-10-10||2015-12-09|AB065793||79324|ENSG00000278870||NM_001005237|164|Olfactory_%20_receptors_%2C__%20_family_%20_51||OTTHUMG00000066532|79324||NM_001005237|Q8NGK1|ENSG00000278870|uc010qyr.2|O51G1_HUMAN||B9EGW8_%7C_Q6IFH6|Q8NGK1||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +11 5842447 indel.16325 T TC . PASS FUNCOTATION=[OR52N2|hg19|chr11|5842447|5842448|FRAME_SHIFT_INS||INS|-|-|C|g.chr11:5842447_5842448insC|ENST00000317037.2|+|1|904|c.882_883insC|c.(883-885)tatfs|p.Y295fs|0.3725|CCCAATTGTTTATGGAGTCA|TRIM5_ENST00000380027.1_INTRON|||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471064|NM_001005174.1|NP_001005174.1|HGNC:15228|olfactory_%20_receptor_%20_family_%20_52_%20_subfamily_%20_N_%20_member_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"olfactory_%20_receptor_%2C__%20_family_%20_52_%2C__%20_subfamily_%20_N_%2C__%20_member_%20_2"|||11p15.4|2015-12-09||2015-12-09|AB065816||390077|ENSG00000180988||NM_001005174|165|Olfactory_%20_receptors_%2C__%20_family_%20_52|CCDS31399|OTTHUMG00000168801|390077||NM_001005174|Q8NGI0|ENSG00000180988|uc010qzp.3|O52N2_HUMAN||Q6IFF9|Q8NGI0||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +11 58891938 var_11_58891938 A ACT . PASS FUNCOTATION=[FAM111B|hg19|chr11|58891938|58891939|FRAME_SHIFT_INS||INS|-|-|CT|g.chr11:58891938_58891939insCT|ENST00000343597.3|+|4|559|c.368_369insCT|c.(367-369)aatfs|p.Q124fs|0.3475|GGATAAAGAATCAGTTTAAT|FAM111B_ENST00000529618.1_FRAME_SHIFT_INS_p.Q94fs/FAM111B_ENST00000411426.1_FRAME_SHIFT_INS_p.Q94fs|||||||||||||||||||||||||179|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(12)_%7C_pancreas(22)|||||||BC130539|NM_198947.3|NP_945185.1|HGNC:24200|family_%20_with_%20_sequence_%20_similarity_%20_111_%20_member_%20_B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"family_%20_with_%20_sequence_%20_similarity_%20_111_%2C__%20_member_%20_B"|CANP||11q12.1|2016-09-30||2015-11-18|BC062456||374393|ENSG00000189057|24268661|NM_198947|||CCDS7972_%2C__%20_CCDS44611|OTTHUMG00000167279|374393|615584|NM_001142703|Q6SJ93|ENSG00000189057|uc001nnl.5|F111B_HUMAN||B4E2G2_%7C_Q6P661|Q6SJ93|||catalytic_%20_activity_%20_(GO:0003824)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +11 59132518 indel.18341 T TG . PASS FUNCOTATION=[OR5AN1|hg19|chr11|59132518|59132519|FRAME_SHIFT_INS||INS|-|-|G|g.chr11:59132518_59132519insG|ENST00000313940.2|+|1|634|c.587_588insG|c.(586-588)gtafs|p.Q197fs|0.435|CTTTCTTTGTACAGGTCATG||||||||||||||||||||||||||68|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BK004508|NM_001004729.1|NP_001004729.1|HGNC:15255|olfactory_%20_receptor_%20_family_%20_5_%20_subfamily_%20_AN_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"olfactory_%20_receptor_%2C__%20_family_%20_5_%2C__%20_subfamily_%20_AN_%2C__%20_member_%20_1"|||11q12.1|2015-12-09||2015-12-09|AB065806||390195|ENSG00000176495||NM_001004729|152|Olfactory_%20_receptors_%2C__%20_family_%20_5|CCDS31559|OTTHUMG00000167337|390195|615702|NM_001004729|Q8NGI8|ENSG00000176495|uc010rks.3|O5AN1_HUMAN||B9EIS2_%7C_Q6IEV4|Q8NGI8||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +11 62931299 indel.18818 T TC . PASS FUNCOTATION=[SLC22A25|hg19|chr11|62931299|62931300|FRAME_SHIFT_INS||INS|-|-|C|g.chr11:62931299_62931300insC|ENST00000306494.6|-|9|1641|c.1640_1641insG|c.(1639-1641)ctafs|p.*548fs|0.51|ACAGACCTATAGCACAGAGC|SLC22A10_ENST00000535888.1_INTRON/SLC22A10_ENST00000525620.1_INTRON|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC101316|NM_199352.3|NP_955384.3|HGNC:32935|solute_%20_carrier_%20_family_%20_22_%20_member_%20_25|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"MGI:2442751_%2C__%20_MGI:2385316_%2C__%20_MGI:3042283_%2C__%20_MGI:3645714_%2C__%20_MGI:3605624_%2C__%20_MGI:2442750"_%2C__%20_"solute_%20_carrier_%20_family_%20_22_%2C__%20_member_%20_25"|UST6_%2C__%20_HIMTP_%2C__%20_MGC120420||11q12.3|2015-12-08||2015-12-08|AY437532||387601|ENSG00000196600|17714910|NM_199352|752|Solute_%20_carriers|CCDS31592|OTTHUMG00000165340|387601|610792|NM_199352|Q6T423|ENSG00000196600|uc001nwr.2|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +11 63953121 rs3751122 G T . PASS FUNCOTATION=[STIP1|hg19|chr11|63953121|63953121|DE_NOVO_START_IN_FRAME||SNP|G|G|T|g.chr11:63953121G>T|ENST00000358794.5|+|1|||||0.6733167082294265|GCAACCCAGAGGCCCCGCAGC|STIP1_ENST00000305218.4_FIVE_PRIME_FLANK/STIP1_ENST00000538945.1_FIVE_PRIME_FLANK/STIP1_ENST00000543847.1_FIVE_PRIME_FLANK/STIP1_ENST00000540501.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471076|NM_001282652.1|NP_001269581.1|HGNC:11387|stress_%20_induced_%20_phosphoprotein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"stress-induced-phosphoprotein_%20_1"|HOP_%2C__%20_STI1|"Hsp70/Hsp90-organizing_%20_protein"|11q13.1|2016-10-05||2015-11-20|BC039299||10963|ENSG00000168439|1569099|NM_006819|769|Tetratricopeptide_%20_repeat_%20_domain_%20_containing|CCDS8058_%2C__%20_CCDS60827_%2C__%20_CCDS60828|OTTHUMG00000167789|10963|605063|NM_001282652|P31948|ENSG00000168439|uc001nyk.2|STIP1_HUMAN||B4DM70_%7C_F5H0T1_%7C_G3XAD8_%7C_Q3ZCU9_%7C_Q5TZU9|P31948|response_%20_to_%20_stress_%20_(GO:0006950)|Golgi_%20_apparatus_%20_(GO:0005794)_%7C_nucleus_%20_(GO:0005634)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +11 75694488 exm942121 C T . PASS FUNCOTATION=[UVRAG|hg19|chr11|75694488|75694488|DE_NOVO_START_IN_FRAME||SNP|C|C|T|g.chr11:75694488C>T|ENST00000533454.1|+|3|||||0.32169576059850374|TGAACTGGAACGGCAGAAGAA|UVRAG_ENST00000356136.3_MISSENSE_p.R253W/UVRAG_ENST00000531818.1_DE_NOVO_START_OUT_FRAME/UVRAG_ENST00000532130.1_DE_NOVO_START_OUT_FRAME/UVRAG_ENST00000528420.1_MISSENSE_p.R152W/UVRAG_ENST00000539288.1_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||188|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_soft_tissue(4)_%7C_urinary_tract(1)|||||||AP003168|||HGNC:12640|UV_%20_radiation_%20_resistance_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"UV_%20_radiation_%20_resistance_%20_associated_%20_gene"|VPS38|"beclin_%20_1_%20_binding_%20_protein"|11q13.5|2016-10-05||2012-11-15|X99050_%2C__%20_AB012958||7405|ENSG00000198382|9169138_%2C__%20_16799551_%2C__%20_18843052|NM_003369|823|C2_%20_domain_%20_containing|CCDS8241|OTTHUMG00000165319|7405|602493|NM_003369|Q9P2Y5|ENSG00000198382|uc001oxc.4|UVRAG_HUMAN||B3KTC1_%7C_O00392|Q9P2Y5|DNA_%20_repair_%20_(GO:0006281)_%7C_positive_%20_regulation_%20_of_%20_autophagy_%20_(GO:0010508)_%7C_SNARE_%20_complex_%20_assembly_%20_(GO:0035493)_%7C_viral_%20_entry_%20_into_%20_host_%20_cell_%20_(GO:0046718)|cytoplasm_%20_(GO:0005737)_%7C_early_%20_endosome_%20_(GO:0005769)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_lysosome_%20_(GO:0005764)_%7C_phagocytic_%20_vesicle_%20_(GO:0045335)_%7C_protein_%20_complex_%20_(GO:0043234)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +11 75694530 exm942122 A G . PASS FUNCOTATION=[UVRAG|hg19|chr11|75694530|75694530|DE_NOVO_START_OUT_FRAME||SNP|A|A|G|g.chr11:75694530A>G|ENST00000533454.1|+|3|||||0.34413965087281795|ATTACTGCATAAGCAACAAAT|UVRAG_ENST00000356136.3_MISSENSE_p.K267E/UVRAG_ENST00000531818.1_DE_NOVO_START_OUT_FRAME/UVRAG_ENST00000532130.1_DE_NOVO_START_OUT_FRAME/UVRAG_ENST00000539288.1_DE_NOVO_START_OUT_FRAME/UVRAG_ENST00000528420.1_MISSENSE_p.K166E|||||||||||||||||||||||||188|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_soft_tissue(4)_%7C_urinary_tract(1)|||||||AP003168|||HGNC:12640|UV_%20_radiation_%20_resistance_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"UV_%20_radiation_%20_resistance_%20_associated_%20_gene"|VPS38|"beclin_%20_1_%20_binding_%20_protein"|11q13.5|2016-10-05||2012-11-15|X99050_%2C__%20_AB012958||7405|ENSG00000198382|9169138_%2C__%20_16799551_%2C__%20_18843052|NM_003369|823|C2_%20_domain_%20_containing|CCDS8241|OTTHUMG00000165319|7405|602493|NM_003369|Q9P2Y5|ENSG00000198382|uc001oxc.4|UVRAG_HUMAN||B3KTC1_%7C_O00392|Q9P2Y5|DNA_%20_repair_%20_(GO:0006281)_%7C_positive_%20_regulation_%20_of_%20_autophagy_%20_(GO:0010508)_%7C_SNARE_%20_complex_%20_assembly_%20_(GO:0035493)_%7C_viral_%20_entry_%20_into_%20_host_%20_cell_%20_(GO:0046718)|cytoplasm_%20_(GO:0005737)_%7C_early_%20_endosome_%20_(GO:0005769)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_lysosome_%20_(GO:0005764)_%7C_phagocytic_%20_vesicle_%20_(GO:0045335)_%7C_protein_%20_complex_%20_(GO:0043234)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +11 78282425 exm944472 G C . PASS FUNCOTATION=[NARS2|hg19|chr11|78282425|78282425|DE_NOVO_START_OUT_FRAME||SNP|G|G|C|g.chr11:78282425G>C|ENST00000528850.1|-|2|||||0.3790523690773067|GCTTTCCAAAGATGACCCATC|NARS2_ENST00000281038.5_MISSENSE_p.S69C|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471076|||HGNC:26274|asparaginyl-tRNA_%20_synthetase_%20_2_%2C__%20_mitochondrial|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DFNB94|"deafness_%2C__%20_autosomal_%20_recessive_%20_94"_%2C__%20_"asparaginyl-tRNA_%20_synthetase_%20_2_%2C__%20_mitochondrial_%20_(putative)"|FLJ23441_%2C__%20_SLM5|"asparagine_%20_tRNA_%20_ligase_%20_2_%2C__%20_mitochondrial_%20_(putative)"|11q14.1|2017-09-15||2017-09-15|BC007800|6.1.1.22|79731|ENSG00000137513|15779907_%2C__%20_25807530|NM_024678|132_%7C_1152|Aminoacyl_%20_tRNA_%20_synthetases_%2C__%20_Class_%20_II_%7C_Deafness_%20_associated_%20_genes|CCDS8261_%2C__%20_CCDS58164|OTTHUMG00000166702|79731|612803|NM_001243251|Q96I59|ENSG00000137513|uc001ozi.3|SYNM_HUMAN|L-Asparagine(DB00174)|G3V178|Q96I59|asparaginyl-tRNA_%20_aminoacylation_%20_(GO:0006421)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_tRNA_%20_aminoacylation_%20_for_%20_protein_%20_translation_%20_(GO:0006418)|mitochondrion_%20_(GO:0005739)|asparagine-tRNA_%20_ligase_%20_activity_%20_(GO:0004816)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_nucleic_%20_acid_%20_binding_%20_(GO:0003676)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +11 111753117 indel.21284 C CGT . PASS FUNCOTATION=[C11orf1|hg19|chr11|111753117|111753118|FRAME_SHIFT_INS||INS|-|-|GT|g.chr11:111753117_111753118insGT|ENST00000530214.1|+|2|90|c.71_72insGT|c.(70-72)acafs|p.N25fs|0.4425|GTTTCCTCACAAACCCACAC|C11orf1_ENST00000528125.1_FIVE_PRIME_UTR/C11orf1_ENST00000260276.3_FRAME_SHIFT_INS_p.N25fs/C11orf1_ENST00000529270.1_FRAME_SHIFT_INS_p.N65fs/FDXACB1_ENST00000260257.4_FIVE_PRIME_FLANK/FDXACB1_ENST00000542429.1_FIVE_PRIME_FLANK/ALG9_ENST00000524880.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AP001781|||HGNC:1163|chromosome_%20_11_%20_open_%20_reading_%20_frame_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ23499||11q23.1|2017-07-07|||AJ250229||64776|ENSG00000137720|10873569|NM_022761|||CCDS8350_%2C__%20_CCDS81625|OTTHUMG00000166884|64776||NM_022761|Q9H5F2|ENSG00000137720|uc001pmd.4|CK001_HUMAN||Q6I9X7_%7C_Q9NQC6|Q9H5F2||nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +11 113565234 exm956500 G A . PASS FUNCOTATION=[TMPRSS5|hg19|chr11|113565234|113565234|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr11:113565234G>A|ENST00000536856.1|-|6|||||0.5586034912718204|ACCACCCAGCGTGGCGCTAGC|TMPRSS5_ENST00000299882.5_MISSENSE_p.R251C/TMPRSS5_ENST00000540540.1_DE_NOVO_START_OUT_FRAME/TMPRSS5_ENST00000545579.1_MISSENSE_p.R242C/TMPRSS5_ENST00000538955.1_MISSENSE_p.R207C/TMPRSS5_ENST00000544634.1_INTRON/TMPRSS5_ENST00000544476.1_INTRON/TMPRSS5_ENST00000545265.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CH471065|||HGNC:14908|transmembrane_%20_protease_%2C__%20_serine_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC141886_%2C__%20_MGC148044|"spinesin"|11q23.2|2016-10-05||2008-07-31|AB028140||80975|ENSG00000166682||NM_030770|1404_%7C_738|Scavenger_%20_receptor_%20_cysteine_%20_rich_%20_domain_%20_containing_%7C_Proteases_%2C__%20_serine|CCDS44735_%2C__%20_CCDS73390_%2C__%20_CCDS73391_%2C__%20_CCDS73392_%2C__%20_CCDS73393|OTTHUMG00000168186|80975|606751|NM_001288749|Q9H3S3|ENSG00000166682|uc001poc.6|TMPS5_HUMAN|||Q9H3S3|proteolysis_%20_(GO:0006508)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)|peptidase_%20_activity_%20_(GO:0008233)_%7C_scavenger_%20_receptor_%20_activity_%20_(GO:0005044)_%7C_serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +11 113565260 exm1695050 G A . PASS FUNCOTATION=[TMPRSS5|hg19|chr11|113565260|113565260|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr11:113565260G>A|ENST00000536856.1|-|6|||||0.5760598503740648|GCCCCCACACGTGTGCCGGAA|TMPRSS5_ENST00000299882.5_MISSENSE_p.T242M/TMPRSS5_ENST00000545579.1_MISSENSE_p.T233M/TMPRSS5_ENST00000540540.1_DE_NOVO_START_IN_FRAME/TMPRSS5_ENST00000538955.1_MISSENSE_p.T198M/TMPRSS5_ENST00000544634.1_INTRON/TMPRSS5_ENST00000544476.1_INTRON/TMPRSS5_ENST00000545265.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CH471065|||HGNC:14908|transmembrane_%20_protease_%2C__%20_serine_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC141886_%2C__%20_MGC148044|"spinesin"|11q23.2|2016-10-05||2008-07-31|AB028140||80975|ENSG00000166682||NM_030770|1404_%7C_738|Scavenger_%20_receptor_%20_cysteine_%20_rich_%20_domain_%20_containing_%7C_Proteases_%2C__%20_serine|CCDS44735_%2C__%20_CCDS73390_%2C__%20_CCDS73391_%2C__%20_CCDS73392_%2C__%20_CCDS73393|OTTHUMG00000168186|80975|606751|NM_001288749|Q9H3S3|ENSG00000166682|uc001poc.6|TMPS5_HUMAN|||Q9H3S3|proteolysis_%20_(GO:0006508)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)|peptidase_%20_activity_%20_(GO:0008233)_%7C_scavenger_%20_receptor_%20_activity_%20_(GO:0005044)_%7C_serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +12 11243923 indel.23289 TTTCACC T . PASS FUNCOTATION=[TAS2R43|hg19|chr12|11243924|11243929|IN_FRAME_DEL||DEL|TTCACC|TTCACC|-|g.chr12:11243924_11243929delTTCACC|ENST00000531678.1|-|1|990_995|c.900_905delGGTGAA|c.(898-906)tgggtgaaa>tga|p.300_302WVK>*|0.35714285714285715|CTTCTCTCCTTTCACCCAGTACCTCA|TAS2R14_ENST00000381852.4_INTRON/PRR4_ENST00000536668.1_INTRON|||||||||||||||||||||||||1|haematopoietic_and_lymphoid_tissue(1)|||||||BC117423|NM_176884.2|NP_795365.2|HGNC:18875|taste_%20_2_%20_receptor_%20_member_%20_43|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"taste_%20_receptor_%2C__%20_type_%20_2_%2C__%20_member_%20_43"|T2R52||12p13.2|2015-12-16||2015-12-16|AF494237||259289||12379855|NM_176884|1162|Taste_%20_2_%20_receptors|CCDS53749||259289|612668|NM_176884|P59537|ENSG00000255374|uc001qzq.1|T2R43_HUMAN||P59546_%7C_Q645X4|P59537|detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_bitter_%20_taste_%20_(GO:0001580)_%7C_G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_motile_%20_cilium_%20_(GO:0031514)_%7C_plasma_%20_membrane_%20_(GO:0005886)|bitter_%20_taste_%20_receptor_%20_activity_%20_(GO:0033038)_%7C_taste_%20_receptor_%20_activity_%20_(GO:0008527)||||true|false||false|false|||false|false|false|PRH1-TAS2R14:106707243_%7C_TAS2R43:259289_%7C_PRH1:5554_%7C_PRH1-PRR4:100533464|false|true|true|false|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|867813065|11243924|false|false|0|false|0|false||false|false|false|DIV|false|0x050000080005000402000210|1|false|147|rs867813065|] +12 29597130 indel.23912 T TA . PASS FUNCOTATION=[OVCH1|hg19|chr12|29597130|29597131|FRAME_SHIFT_INS||INS|-|-|A|g.chr12:29597130_29597131insA|ENST00000318184.5|-|24|2965|c.2964_2965insT|c.(2965-2967)aagfs|p.K989fs|0.3825|CTTCTGGCTTGGTCAGAAGA|OVCH1-AS1_ENST00000551108.1_INTRON/OVCH1-AS1_ENST00000549411.1_INTRON|||||||||||||||||||||||||205|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(23)_%7C_large_intestine(36)_%7C_pancreas(112)|||||||BN000128|NM_183378.2|NP_899234.2|HGNC:23080|ovochymase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||OVCH||12p11.22|2016-10-05|||BN000128||341350|ENSG00000187950|12838346|NM_183378||||OTTHUMG00000167741|341350||XM_011520638|Q7RTY7|ENSG00000187950|uc001rix.2|OVCH1_HUMAN|||Q7RTY7||extracellular_%20_region_%20_(GO:0005576)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +12 52201139 indel.24708 A AC . PASS FUNCOTATION=[SCN8A|hg19|chr12|52201139|52201140|FRAME_SHIFT_INS||INS|-|-|C|g.chr12:52201139_52201140insC|ENST00000354534.6|+|27|6047|c.5869_5870insC|c.(5869-5871)aaafs|p.K1957fs|0.465|GAAAAGGAGAAACAGCAGCG|SCN8A_ENST00000545061.1_FRAME_SHIFT_INS_p.K1916fs/AC068987.1_ENST00000599343.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||22|central_nervous_system(22)|||||||FJ611941|NM_014191.3|NP_055006.1|HGNC:10596|sodium_%20_voltage-gated_%20_channel_%20_alpha_%20_subunit_%20_8|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MED|"sodium_%20_channel_%2C__%20_voltage_%20_gated_%2C__%20_type_%20_VIII_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"sodium_%20_channel_%2C__%20_voltage_%20_gated_%2C__%20_type_%20_VIII_%2C__%20_alpha_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_voltage_%20_gated_%2C__%20_type_%20_VIII_%20_alpha_%20_subunit"|Nav1.6_%2C__%20_NaCh6_%2C__%20_PN4_%2C__%20_CerIII_%2C__%20_CIAT||12q13.13|2017-05-10||2016-02-05|AB027567||6334|ENSG00000196876|7670495_%2C__%20_9828131_%2C__%20_16382098|NM_014191|1203|Sodium_%20_voltage-gated_%20_channel_%20_alpha_%20_subunits|CCDS44891_%2C__%20_CCDS53794_%2C__%20_CCDS81692|OTTHUMG00000169490|6334|600702|NM_001177984|Q9UQD0|ENSG00000196876|uc001ryw.4|SCN8A_HUMAN|Valproic_%20_Acid(DB00313)|B9VWG8_%7C_O95788_%7C_Q9NYX2_%7C_Q9UPB2|Q9UQD0|adult_%20_walking_%20_behavior_%20_(GO:0007628)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_membrane_%20_depolarization_%20_during_%20_action_%20_potential_%20_(GO:0086010)_%7C_muscle_%20_organ_%20_development_%20_(GO:0007517)_%7C_myelination_%20_(GO:0042552)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_neuromuscular_%20_process_%20_(GO:0050905)_%7C_neuronal_%20_action_%20_potential_%20_(GO:0019228)_%7C_peripheral_%20_nervous_%20_system_%20_development_%20_(GO:0007422)_%7C_response_%20_to_%20_toxic_%20_substance_%20_(GO:0009636)_%7C_sensory_%20_perception_%20_of_%20_sound_%20_(GO:0007605)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)|axon_%20_initial_%20_segment_%20_(GO:0043194)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_dendrite_%20_(GO:0030425)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_node_%20_of_%20_Ranvier_%20_(GO:0033268)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_voltage-gated_%20_sodium_%20_channel_%20_complex_%20_(GO:0001518)_%7C_Z_%20_disc_%20_(GO:0030018)|ATP_%20_binding_%20_(GO:0005524)_%7C_voltage-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0005248)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +12 53699726 indel.24975 T TA . PASS FUNCOTATION=[C12orf10|hg19|chr12|53699726|53699727|FRAME_SHIFT_INS||INS|-|-|A|g.chr12:53699726_53699727insA|ENST00000549488.1|+|2|205|c.35_36insA|c.(34-36)gtgfs|p.D13fs|0.515|TGGATGCTGTGGACAATGGG|C12orf10_ENST00000267103.5_FRAME_SHIFT_INS_p.D176fs/C12orf10_ENST00000548632.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||AC073611|||HGNC:17590|chromosome_%20_12_%20_open_%20_reading_%20_frame_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MYG_%2C__%20_MYG1_%2C__%20_Gamm1|"melanocyte_%20_related_%20_gene"_%2C__%20_"melanocyte_%20_proliferating_%20_gene_%20_1"|12q13.13|2017-08-04|||AF289485||60314|ENSG00000139637|16996721|NM_021640|||CCDS31810|OTTHUMG00000170030|60314|611366|NM_021640|Q9HB07|ENSG00000139637|uc001scp.5|MYG1_HUMAN|||Q9HB07|locomotory_%20_exploration_%20_behavior_%20_(GO:0035641)_%7C_pigmentation_%20_(GO:0043473)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +12 54405153 indel.25064 A AC . PASS FUNCOTATION=[HOXC8|hg19|chr12|54405153|54405154|FRAME_SHIFT_INS||INS|-|-|C|g.chr12:54405153_54405154insC|ENST00000040584.4|+|2|954|c.717_718insC|c.(718-720)aacfs|p.N240fs|0.44|AAAGGAAGAAAACAAGGACT|RP11-834C11.12_ENST00000513209.1_INTRON/HOXC6_ENST00000394331.3_FIVE_PRIME_FLANK|GBM(197_%3B_701_%20_2226_%20_7002_%20_18822_%20_41696)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X99681|NM_022658.3|NP_073149.1|HGNC:5129|homeobox_%20_C8|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HOX3_%2C__%20_HOX3A|"homeo_%20_box_%20_C8"|||12q13.13|2015-08-25||2005-12-22|X99680||3224||1973146_%2C__%20_1358459||518|HOXL_%20_subclass_%20_homeoboxes|CCDS8870||3224|142970|NM_022658|P31273|ENSG00000037965|uc001ser.4|HXC8_HUMAN||A8K4J4_%7C_O15221_%7C_O15362|P31273|anterior/posterior_%20_pattern_%20_specification_%20_(GO:0009952)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_neuron_%20_differentiation_%20_(GO:0030182)_%7C_skeletal_%20_system_%20_morphogenesis_%20_(GO:0048705)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|microtubule_%20_cytoskeleton_%20_(GO:0015630)_%7C_nucleus_%20_(GO:0005634)|sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +12 55248357 rs1048371 G T . PASS FUNCOTATION=[MUCL1|hg19|chr12|55248357|55248357|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr12:55248357G>T|ENST00000308796.6|+|1|||||0.44389027431421446|CTGATCTTCAGGTCACCACCA|MUCL1_ENST00000546809.1_INTRON/MUCL1_ENST00000547990.1_INTRON|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC111421|NM_058173.2|NP_477521.1|HGNC:30588|mucin_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SBEM|"small_%20_breast_%20_epithelial_%20_mucin"|12q13.2|2016-01-15||2016-01-15|AF414087||118430||12019145|NM_058173|||CCDS8885||118430|610857|NM_058173|Q96DR8|ENSG00000172551|uc001sgk.4|MUCL1_HUMAN||Q0VG95_%7C_Q32ZB5|Q96DR8|cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_region_%20_(GO:0005576)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_membrane_%20_(GO:0016020)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +12 68719304 exm1020408 T C . PASS FUNCOTATION=[MDM1|hg19|chr12|68719304|68719304|DE_NOVO_START_OUT_FRAME||SNP|T|T|C|g.chr12:68719304T>C|ENST00000540418.1|-|3|||||0.3192019950124688|CTCAAGGCATTATATGAAGGA|MDM1_ENST00000411698.2_INTRON/MDM1_ENST00000303145.7_MISSENSE_p.N184D/MDM1_ENST00000393543.3_THREE_PRIME_UTR/MDM1_ENST00000430606.2_THREE_PRIME_UTR/MDM1_ENST00000545724.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AC022511|||HGNC:29917|Mdm1_%20_nuclear_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Mdm4_%2C__%20_transformed_%20_3T3_%20_cell_%20_double_%20_minute_%20_1_%2C__%20_p53_%20_binding_%20_protein_%20_(mouse)"_%2C__%20_"Mdm1_%20_nuclear_%20_protein_%20_homolog_%20_(mouse)"|||12q15|2015-06-19||2015-06-19|AF007130||56890||8619474_%2C__%20_9110174|NM_020128|||CCDS8983_%2C__%20_CCDS44938_%2C__%20_CCDS55841_%2C__%20_CCDS55842||56890|613813|NM_001205028|Q8TC05|ENSG00000111554|uc001stz.3|MDM1_HUMAN||B4DM65_%7C_E7EPQ3_%7C_O43406_%7C_Q8WTV9_%7C_Q9NR04|Q8TC05|retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)|nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +12 100452662 indel.26607 G GA . PASS FUNCOTATION=[UHRF1BP1L|hg19|chr12|100452662|100452663|FRAME_SHIFT_INS||INS|-|-|A|g.chr12:100452662_100452663insA|ENST00000279907.7|-|14|2606|c.2392_2393insT|c.(2392-2394)cctfs|p.P798fs|0.4025|GACGAGGAAGGGGAAAATCT|UHRF1BP1L_ENST00000545232.2_FRAME_SHIFT_INS_p.P448fs|||||||||||||||||||||||||25|breast(1)_%7C_central_nervous_system(22)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_lung(1)|||||||BC127017|NM_015054.1|NP_055869.1|HGNC:29102|UHRF1_%20_binding_%20_protein_%20_1_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA0701||12q23.1|2016-03-02||2016-03-02|||23074|ENSG00000111647||NM_001006947|||CCDS31882_%2C__%20_CCDS31883|OTTHUMG00000170195|23074||NM_001006947|A0JNW5|ENSG00000111647|uc001tgq.4|UH1BL_HUMAN||A0PJE5_%7C_O75183_%7C_Q8NDL1_%7C_Q96C30_%7C_Q9BTS5_%7C_Q9H0F1|A0JNW5|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +12 111993688 exm1037604 G A . PASS FUNCOTATION=[ATXN2|hg19|chr12|111993688|111993688|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr12:111993688G>A|ENST00000542287.2|-|2|||||0.32169576059850374|GTTACTCACCGTAGACTGAGG|ATXN2_ENST00000377617.3_SPLICE_SITE_p.T256M/ATXN2_ENST00000389153.4_DE_NOVO_START_IN_FRAME/ATXN2_ENST00000608853.1_SPLICE_SITE_p.T96M/ATXN2_ENST00000535949.1_INTRON/ATXN2_ENST00000550104.1_SPLICE_SITE_p.T256M/ATXN2_ENST00000549455.1_INTRON|||||||||||||||||||||||||203|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_large_intestine(35)_%7C_pancreas(22)|||||||BC111757|||HGNC:10555|ataxin_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SCA2_%2C__%20_TNRC13|"spinocerebellar_%20_ataxia_%20_2_%20_(olivopontocerebellar_%20_ataxia_%20_2_%2C__%20_autosomal_%20_dominant_%2C__%20_ataxin_%20_2)"|ATX2|"trinucleotide_%20_repeat_%20_containing_%20_13"|12q24.12|2017-03-24|2004-08-13|2004-08-12|U80749||6311|ENSG00000204842|8358438_%2C__%20_9225980|NM_002973|411_%7C_775|Ataxins_%7C_Trinucleotide_%20_repeat_%20_containing|CCDS31902_%2C__%20_CCDS81738_%2C__%20_CCDS81739|OTTHUMG00000133475|6311|601517|NM_001310121|Q99700|ENSG00000204842|uc001tsj.3|ATX2_HUMAN||A6NLD4_%7C_Q6ZQZ7_%7C_Q99493|Q99700|cell_%20_death_%20_(GO:0008219)_%7C_cerebellar_%20_Purkinje_%20_cell_%20_differentiation_%20_(GO:0021702)_%7C_cytoplasmic_%20_mRNA_%20_processing_%20_body_%20_assembly_%20_(GO:0033962)_%7C_homeostasis_%20_of_%20_number_%20_of_%20_cells_%20_(GO:0048872)_%7C_negative_%20_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040015)_%7C_negative_%20_regulation_%20_of_%20_receptor_%20_internalization_%20_(GO:0002091)_%7C_neuromuscular_%20_process_%20_(GO:0050905)_%7C_neuron_%20_projection_%20_morphogenesis_%20_(GO:0048812)_%7C_regulation_%20_of_%20_translation_%20_(GO:0006417)_%7C_RNA_%20_metabolic_%20_process_%20_(GO:0016070)_%7C_RNA_%20_transport_%20_(GO:0050658)_%7C_stress_%20_granule_%20_assembly_%20_(GO:0034063)|cytoplasm_%20_(GO:0005737)_%7C_cytoplasmic_%20_stress_%20_granule_%20_(GO:0010494)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_polysome_%20_(GO:0005844)_%7C_ribonucleoprotein_%20_complex_%20_(GO:0030529)_%7C_trans-Golgi_%20_network_%20_(GO:0005802)|epidermal_%20_growth_%20_factor_%20_receptor_%20_binding_%20_(GO:0005154)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_protein_%20_C-terminus_%20_binding_%20_(GO:0008022)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +12 120111850 exm2250630 C T . PASS FUNCOTATION=[PRKAB1|hg19|chr12|120111850|120111850|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr12:120111850C>T|ENST00000540121.1|+|3|||||0.5361596009975063|AGTGGACGCACGACCCTTCCG|PRKAB1_ENST00000229328.5_SILENT_p.H135H/PRKAB1_ENST00000541640.1_SILENT_p.H135H|||||||||||||||||||||||||875|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(323)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_upper_aerodigestive_tract(72)|||||||AC002563|||HGNC:9378|protein_%20_kinase_%20_AMP-activated_%20_non-catalytic_%20_subunit_%20_beta_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"protein_%20_kinase_%2C__%20_AMP-activated_%2C__%20_beta_%20_1_%20_non-catalytic_%20_subunit"||"AMPK_%20_beta_%20_1"|12q24.23|2016-10-05||2016-01-27|BC001823||5564|ENSG00000111725|8557660|NM_006253|||CCDS9191|OTTHUMG00000168954|5564|602740|NM_006253|Q9Y478|ENSG00000111725|uc001txg.4|AAKB1_HUMAN|Acetylsalicylic_%20_acid(DB00945)_%7C_Adenosine_%20_monophosphate(DB00131)_%7C_Metformin(DB00331)|Q9UBV0_%7C_Q9UE20_%7C_Q9UEX2_%7C_Q9Y6V8|Q9Y478|cell_%20_cycle_%20_arrest_%20_(GO:0007050)_%7C_fatty_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0006633)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_membrane_%20_organization_%20_(GO:0061024)_%7C_positive_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0010628)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_catalytic_%20_activity_%20_(GO:0050790)_%7C_signal_%20_transduction_%20_(GO:0007165)|AMP-activated_%20_protein_%20_kinase_%20_complex_%20_(GO:0031588)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)|protein_%20_kinase_%20_activity_%20_(GO:0004672)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +12 122977328 exm1046212 A C . PASS FUNCOTATION=[ZCCHC8|hg19|chr12|122977328|122977328|DE_NOVO_START_OUT_FRAME||SNP|A|A|C|g.chr12:122977328A>C|ENST00000543897.1|-|2|||||0.3266832917705736|ATCGTTCACCAATATTCCACT|ZCCHC8_ENST00000536306.1_DE_NOVO_START_OUT_FRAME/ZCCHC8_ENST00000336229.4_MISSENSE_p.L84W/SNORA9_ENST00000516383.1_FIVE_PRIME_FLANK|||||||||||||||||||||||ZCCHC8{ENST00000336229}:r.1_373_ROS1{ENST00000368508}:r.5977_7435(2)||128|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_skin(38)|||||||BC065918|||HGNC:25265|zinc_%20_finger_%20_CCHC-type_%20_containing_%20_8|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||DKFZp434E2220||12q24.31|2016-02-12||2016-02-12|BC017704||55596||16263084_%2C__%20_21855801|NM_017612|1316_%7C_74|Nuclear_%20_exosome_%20_targeting_%20_complex_%7C_Zinc_%20_fingers_%20_CCHC-type|||55596|616381|NM_017612|Q6NZY4|ENSG00000033030|uc284ngs.1|ZCHC8_HUMAN||Q7L2P6_%7C_Q8N2K5_%7C_Q96SK7_%7C_Q9NSS2_%7C_Q9NSS3|Q6NZY4|mRNA_%20_splicing_%2C__%20_via_%20_spliceosome_%20_(GO:0000398)|catalytic_%20_step_%20_2_%20_spliceosome_%20_(GO:0071013)_%7C_nucleus_%20_(GO:0005634)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +12 133727648 indel.28471 T TA . PASS FUNCOTATION=[ZNF10|hg19|chr12|133727648|133727649|FRAME_SHIFT_INS||INS|-|-|A|g.chr12:133727648_133727649insA|ENST00000248211.6|+|3|290|c.68_69insA|c.(67-69)ttcfs|p.F23fs|0.44|TTGTGGACTTCACCAGGGAG|ZNF10_ENST00000426665.2_FRAME_SHIFT_INS_p.F23fs/CTD-2140B24.4_ENST00000540096.2_FRAME_SHIFT_INS_p.F23fs/ZNF10_ENST00000402932.2_FRAME_SHIFT_INS_p.F23fs/ZNF268_ENST00000416488.1_FRAME_SHIFT_INS_p.F23fs/ZNF10_ENST00000540927.1_INTRON|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||X52332|NM_015394.4|NP_056209.2|HGNC:12879|zinc_%20_finger_%20_protein_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"zinc_%20_finger_%20_protein_%20_10_%20_(KOX_%20_1)"|KOX1||12q24.33|2014-11-19||2005-05-22|X52332_%2C__%20_BC024182||7556|ENSG00000256223|7865130_%2C__%20_8262519|NM_015394|28|Zinc_%20_fingers_%20_C2H2-type|CCDS9283|OTTHUMG00000167944|7556|194538|NM_015394|P21506|ENSG00000256223|uc001ulq.4|ZNF10_HUMAN||B2RBS1_%7C_Q8TC91|P21506|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +12 133780295 indel.28489 A AC . PASS FUNCOTATION=[ZNF268|hg19|chr12|133780295|133780296|FRAME_SHIFT_INS||INS|-|-|C|g.chr12:133780295_133780296insC|ENST00000536435.2|+|6|2353|c.2023_2024insC|c.(2023-2025)aaafs|p.K675fs|0.4025|CAATGTGCAAAAACCTTTAG|ZNF268_ENST00000228289.5_FRAME_SHIFT_INS_p.K675fs/ZNF268_ENST00000541009.2_THREE_PRIME_UTR/ZNF268_ENST00000542986.2_THREE_PRIME_UTR/ZNF268_ENST00000536899.2_THREE_PRIME_UTR/ZNF268_ENST00000537565.1_FRAME_SHIFT_INS_p.K514fs|||||||||||||||||||||||||22|central_nervous_system(22)|||||||X78926|NM_003415.2|NP_003406.1|HGNC:13061|zinc_%20_finger_%20_protein_%20_268|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||HZF3||12q24.33|2016-11-09|||X78926||10795|ENSG00000090612|7865130|NM_152943|28|Zinc_%20_fingers_%20_C2H2-type|CCDS45012_%2C__%20_CCDS53851_%2C__%20_CCDS53852_%2C__%20_CCDS53853_%2C__%20_CCDS53854_%2C__%20_CCDS59239_%2C__%20_CCDS59240|OTTHUMG00000167946|10795|604753|NM_001165881|Q14587|ENSG00000090612|uc010tcf.3|ZN268_HUMAN||Q8TDG8_%7C_Q96RH4_%7C_Q9BZJ9|Q14587|cell_%20_differentiation_%20_(GO:0030154)_%7C_cellular_%20_response_%20_to_%20_tumor_%20_necrosis_%20_factor_%20_(GO:0071356)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_cycle_%20_arrest_%20_(GO:0071157)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045597)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_migration_%20_(GO:0030335)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_catabolic_%20_process_%20_(GO:0045732)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_homodimerization_%20_activity_%20_(GO:0090073)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_phosphorylation_%20_(GO:0001934)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_during_%20_mitosis_%20_(GO:0046022)_%7C_regulation_%20_of_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0007346)_%7C_regulation_%20_of_%20_protein_%20_heterodimerization_%20_activity_%20_(GO:0043497)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_release_%20_of_%20_cytoplasmic_%20_sequestered_%20_NF-kappaB_%20_(GO:0008588)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +13 21714654 exm1792536 A G . PASS FUNCOTATION=[SAP18|hg19|chr13|21714654|21714654|DE_NOVO_START_OUT_FRAME||SNP|A|A|G|g.chr13:21714654A>G|ENST00000382533.4|+|1|||||0.6259351620947631|GGCCGACTATAAAGTGTCGAG|SAP18_ENST00000607003.1_FIVE_PRIME_FLANK/SAP18_ENST00000485646.1_FIVE_PRIME_FLANK/SNORD27_ENST00000516319.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U96915|NM_005870.4|NP_005861.2|HGNC:10530|Sin3A_%20_associated_%20_protein_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sin3A-associated_%20_protein_%2C__%20_18kDa"|SAP18p_%2C__%20_2HOR0202_%2C__%20_MGC27131||13q12.11|2016-06-01||2016-06-01|U96915||10284|ENSG00000150459|9150135|NM_005870|1508_%7C_1236_%7C_1510_%7C_1306|Spliceosomal_%20_Bact_%20_complex_%7C_ASAP_%20_complex_%7C_Spliceosomal_%20_C_%20_complex_%7C_SIN3_%20_histone_%20_deacetylase_%20_complex|CCDS9295|OTTHUMG00000016535|10284|602949|NM_005870|O00422|ENSG00000150459|uc058vuw.1|SAP18_HUMAN||B2R494_%7C_Q2TTR4_%7C_Q6IAW9_%7C_Q8N606_%7C_Q9UF14|O00422|mRNA_%20_processing_%20_(GO:0006397)_%7C_negative_%20_regulation_%20_of_%20_mRNA_%20_splicing_%2C__%20_via_%20_spliceosome_%20_(GO:0048025)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_regulation_%20_of_%20_alternative_%20_mRNA_%20_splicing_%2C__%20_via_%20_spliceosome_%20_(GO:0000381)_%7C_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006357)_%7C_RNA_%20_splicing_%20_(GO:0008380)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|ASAP_%20_complex_%20_(GO:0061574)_%7C_cytoplasm_%20_(GO:0005737)_%7C_histone_%20_deacetylase_%20_complex_%20_(GO:0000118)_%7C_nuclear_%20_speck_%20_(GO:0016607)_%7C_nucleus_%20_(GO:0005634)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +13 37427618 indel.29113 G GT . PASS FUNCOTATION=[SMAD9|hg19|chr13|37427618|37427619|FRAME_SHIFT_INS||INS|-|-|T|g.chr13:37427618_37427619insT|ENST00000350148.5|-|5|1396|c.1086_1087insA|c.(1087-1089)cacfs|p.H363fs|0.475|CAAAGCCGTGGTGAACTGAC|SMAD9_ENST00000399275.2_FRAME_SHIFT_INS_p.H400fs/SMAD9_ENST00000379826.4_FRAME_SHIFT_INS_p.H400fs/SMAD9-AS1_ENST00000437983.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||373|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(190)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||D83761|NM_005905.5|NP_005896.1|HGNC:6774|SMAD_%20_family_%20_member_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MADH6_%2C__%20_MADH9|"MAD_%2C__%20_mothers_%20_against_%20_decapentaplegic_%20_homolog_%20_9_%20_(Drosophila)"_%2C__%20_"SMAD_%2C__%20_mothers_%20_against_%20_DPP_%20_homolog_%20_9_%20_(Drosophila)"|SMAD8_%2C__%20_SMAD8/9||13q13.3|2017-03-24|2004-05-26|2006-11-06|||4093|ENSG00000120693|9205116|NM_005905|750|SMAD_%20_family|CCDS9360_%2C__%20_CCDS45032|OTTHUMG00000016740|4093|603295|NM_001127217|O15198|ENSG00000120693|uc001uvw.3|SMAD9_HUMAN||A2A2Y6_%7C_O14989_%7C_Q5TBA1|O15198|BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_development_%20_(GO:0060348)_%7C_cartilage_%20_development_%20_(GO:0051216)_%7C_cellular_%20_response_%20_to_%20_organic_%20_cyclic_%20_compound_%20_(GO:0071407)_%7C_hindbrain_%20_development_%20_(GO:0030902)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_midbrain_%20_development_%20_(GO:0030901)_%7C_Mullerian_%20_duct_%20_regression_%20_(GO:0001880)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045597)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_ureteric_%20_bud_%20_development_%20_(GO:0001657)|cytosol_%20_(GO:0005829)_%7C_intracellular_%20_(GO:0005622)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%2C__%20_pathway-specific_%20_cytoplasmic_%20_mediator_%20_activity_%20_(GO:0030618)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +13 76335079 exm2251544 C T . PASS FUNCOTATION=[LMO7|hg19|chr13|76335079|76335079|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr13:76335079C>T|ENST00000321797.8|+|2|||||0.3516209476309227|ATAATATAAACGTTTTCTTGA|LMO7_ENST00000465261.2_DE_NOVO_START_OUT_FRAME/LMO7_ENST00000341547.4_SILENT_p.N126N/LMO7_ENST00000526202.1_SILENT_p.N35N/LMO7_ENST00000357063.3_SILENT_p.N126N/LMO7_ENST00000377534.3_SILENT_p.N126N/RP11-29G8.3_ENST00000563635.1_RNA|||||||||||||||||||||||||585|biliary_tract(2)_%7C_breast(222)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_lung(134)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL359392|||HGNC:6646|LIM_%20_domain_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FBXO20|"LIM_%20_domain_%20_only_%20_7"|FBX20_%2C__%20_KIAA0858|"F-box_%20_only_%20_protein_%20_20"|13q22.2|2014-11-19||2004-06-15|AF092557||4008|ENSG00000136153|9826547_%2C__%20_10531035|NM_005358|1218_%7C_1220|LIM_%20_domain_%20_containing_%7C_PDZ_%20_domain_%20_containing|CCDS9454_%2C__%20_CCDS53876_%2C__%20_CCDS81773_%2C__%20_CCDS81774|OTTHUMG00000017093|4008|604362|NM_001306080|Q8WWI1|ENSG00000136153|uc010thv.4|LMO7_HUMAN||E9PLH4_%7C_O15462_%7C_O95346_%7C_Q5TBK6_%7C_Q9UKC1_%7C_Q9UQM5_%7C_Q9Y6A7|Q8WWI1|protein_%20_ubiquitination_%20_(GO:0016567)|cytoplasm_%20_(GO:0005737)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_nucleus_%20_(GO:0005634)_%7C_ubiquitin_%20_ligase_%20_complex_%20_(GO:0000151)|ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +14 31917379 indel.31575 T TGG . PASS FUNCOTATION=[DTD2|hg19|chr14|31917379|31917380|FRAME_SHIFT_INS||INS|-|-|GG|g.chr14:31917379_31917380insGG|ENST00000310850.4|-|3|580|c.462_463insCC|c.(463-465)aagfs|p.K155fs|0.365|TGTCCAGCTTTAACACCTGC|RP11-176H8.1_ENST00000547378.1_INTRON/DTD2_ENST00000356180.4_FRAME_SHIFT_INS_p.K155fs/CTD-2213F21.2_ENST00000502430.2_RNA|||||||||||||||||||||||||||||||||CH471078|NM_080664.2|NP_542395.1|HGNC:20277|D-tyrosyl-tRNA_%20_deacylase_%20_2_%20_(putative)|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C14orf126|"chromosome_%20_14_%20_open_%20_reading_%20_frame_%20_126"|MGC9912||14q12|2014-11-18|2012-09-25|2012-09-25|BC010618||112487|ENSG00000129480||NM_080664|||CCDS9643|OTTHUMG00000140205|112487||NM_080664|Q96FN9|ENSG00000129480|uc001wrj.5|DTD2_HUMAN||D3DS87|Q96FN9|D-amino_%20_acid_%20_catabolic_%20_process_%20_(GO:0019478)|cytoplasm_%20_(GO:0005737)|hydrolase_%20_activity_%2C__%20_acting_%20_on_%20_ester_%20_bonds_%20_(GO:0016788)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +14 37717112 variant.31677 G T . PASS FUNCOTATION=[MIPOL1|hg19|chr14|37717112|37717112|DE_NOVO_START_IN_FRAME||SNP|G|G|T|g.chr14:37717112G>T|ENST00000556451.1|+|5|||||0.3690773067331671|CTGGTCAAAAGGTAAGGACTT|MIPOL1_ENST00000327441.7_SPLICE_SITE_p.D7Y/MIPOL1_ENST00000539062.2_DE_NOVO_START_OUT_FRAME/MIPOL1_ENST00000537471.1_SPLICE_SITE_p.D7Y/MIPOL1_ENST00000396294.2_SPLICE_SITE_p.D7Y/MIPOL1_ENST00000545536.1_DE_NOVO_START_IN_FRAME/MIPOL1_ENST00000536774.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471078|||HGNC:21460|mirror-image_%20_polydactyly_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CCDC193||14q13.3-q21.1|2017-06-08|||AY059470||145282|ENSG00000151338|11954550_%2C__%20_19667180|NM_138731|||CCDS9664|OTTHUMG00000140252|145282|606850|NM_001195296|Q8TD10|ENSG00000151338|uc001wuc.4|MIPO1_HUMAN||D3DSA4_%7C_Q7Z3J0_%7C_Q8IV14|Q8TD10||nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +14 55226890 exm1102672 G T . PASS FUNCOTATION=[SAMD4A|hg19|chr14|55226890|55226890|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr14:55226890G>T|ENST00000555192.1|+|2|||||0.6234413965087282|ACATCATCGAGGGGGGCAGCC|SAMD4A_ENST00000554335.1_MISSENSE_p.E396D/SAMD4A_ENST00000251091.5_MISSENSE_p.E308D/SAMD4A_ENST00000392067.3_MISSENSE_p.E396D/SAMD4A_ENST00000357634.3_MISSENSE_p.E395D|||||||||||||||||||||||||162|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(72)|||||||CH471061|NM_001161577.1|NP_001155049.1|HGNC:23023|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_4A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SAMD4|"sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_4"|KIAA1053_%2C__%20_DKFZP434H0350_%2C__%20_Smaug_%2C__%20_SMG_%2C__%20_SMGA_%2C__%20_hSmaug1|"smaug_%20_homolog_%20_(Drosophila)"|14q22.2|2016-04-25|2006-01-27|2006-01-27|AB028976||23034|ENSG00000020577|16221671|NM_015589|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS32084_%2C__%20_CCDS55917_%2C__%20_CCDS55918|OTTHUMG00000170999|23034|610747|NM_001161576|Q9UPU9|ENSG00000020577|uc001xbb.4|SMAG1_HUMAN||A8MPZ5_%7C_Q0VA96_%7C_Q6PEW4|Q9UPU9|negative_%20_regulation_%20_of_%20_translation_%20_(GO:0017148)_%7C_positive_%20_regulation_%20_of_%20_translation_%20_(GO:0045727)|cell_%20_junction_%20_(GO:0030054)_%7C_cytoplasm_%20_(GO:0005737)_%7C_neuron_%20_projection_%20_(GO:0043005)_%7C_synapse_%20_(GO:0045202)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_translation_%20_repressor_%20_activity_%20_(GO:0030371)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +14 90759194 indel.33340 T TC . PASS FUNCOTATION=[NRDE2|hg19|chr14|90759194|90759195|FRAME_SHIFT_INS||INS|-|-|C|g.chr14:90759194_90759195insC|ENST00000354366.3|-|9|1922|c.1688_1689insG|c.(1687-1689)gaafs|p.E564fs|0.53|GTCATCCTCTTCTGGTTCAT|NRDE2_ENST00000357904.3_FRAME_SHIFT_INS_p.E333fs|||||||||||||||||||||||||||||||||BC098568|NM_017970.3|NP_060440.2|HGNC:20186|NRDE-2_%2C__%20_necessary_%20_for_%20_RNA_%20_interference_%2C__%20_domain_%20_containing|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C14orf102|"chromosome_%20_14_%20_open_%20_reading_%20_frame_%20_102"|FLJ14051||14q32.11|2014-11-19|2012-09-25|2012-09-25|AK000870||55051|ENSG00000119720||NM_017970|||CCDS9890|OTTHUMG00000171020|55051||NM_017970|Q9H7Z3|ENSG00000119720|uc001xyi.3|NRDE2_HUMAN||B4DH71_%7C_Q4G0A7_%7C_Q9NWH6|Q9H7Z3|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +15 43525779 indel.35182 C CAG . PASS FUNCOTATION=[TGM5|hg19|chr15|43525779|43525780|FRAME_SHIFT_INS||INS|-|-|AG|g.chr15:43525779_43525780insAG|ENST00000220420.5|-|12|1990|c.1981_1982insCT|c.(1981-1983)ggcfs|p.G661fs|0.5125|TTGAAGAGGCCACTTCCTTC|TGM5_ENST00000349114.4_FRAME_SHIFT_INS_p.G579fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC119009|NM_201631.3|NP_963925.2|HGNC:11781|transglutaminase_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||TGX||15q15.2|2016-01-15|||AF035960|2.3.2.13|9333|ENSG00000104055|9452468_%2C__%20_11390390|NM_004245|773|Transglutaminases|CCDS32211_%2C__%20_CCDS32212|OTTHUMG00000176488|9333|603805|NM_004245|O43548|ENSG00000104055|uc001zrd.2|TGM5_HUMAN|L-Glutamine(DB00130)|O43549_%7C_Q0VF40_%7C_Q9UEZ4|O43548|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)_%7C_epidermis_%20_development_%20_(GO:0008544)_%7C_peptide_%20_cross-linking_%20_(GO:0018149)|cytoplasm_%20_(GO:0005737)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_protein-glutamine_%20_gamma-glutamyltransferase_%20_activity_%20_(GO:0003810)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +15 43695952 indel.35239 C CA . PASS FUNCOTATION=[TUBGCP4|hg19|chr15|43695952|43695953|FRAME_SHIFT_INS||INS|-|-|A|g.chr15:43695952_43695953insA|ENST00000260383.7|+|16|2060|c.1806_1807insA|c.(1807-1809)ccafs|p.P603fs|0.45|GAACCTAGGCCCACTGGATG|TUBGCP4_ENST00000564079.1_FRAME_SHIFT_INS_p.P602fs/TUBGCP4_ENST00000399460.3_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471125|NM_001286414.1|NP_001273343.1|HGNC:16691|tubulin_%20_gamma_%20_complex_%20_associated_%20_protein_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tubulin_%2C__%20_gamma_%20_complex_%20_associated_%20_protein_%20_4"|76P_%2C__%20_FLJ14797||15q15.3|2015-12-17||2015-12-17|AJ249677||27229|ENSG00000137822|10562286|NM_014444|||CCDS42030_%2C__%20_CCDS66745|OTTHUMG00000176647|27229|609610|NM_001286414|Q9UGJ1|ENSG00000137822|uc001zrn.5|GCP4_HUMAN||B3KNK6_%7C_Q969X3_%7C_Q9NVF0|Q9UGJ1|G2/M_%20_transition_%20_of_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0000086)_%7C_microtubule_%20_nucleation_%20_(GO:0007020)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_protein_%20_complex_%20_assembly_%20_(GO:0006461)|centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)_%7C_gamma-tubulin_%20_ring_%20_complex_%20_(GO:0008274)_%7C_membrane_%20_(GO:0016020)_%7C_microtubule_%20_(GO:0005874)_%7C_microtubule_%20_cytoskeleton_%20_(GO:0015630)_%7C_spindle_%20_pole_%20_(GO:0000922)|structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +15 54914591 exm1163533 C T . PASS FUNCOTATION=[UNC13C|hg19|chr15|54914591|54914591|MISSENSE||SNP|C|C|T|g.chr15:54914591C>T|ENST00000260323.11|+|30|6173|c.6173C>T|c.(6172-6174)aCg>aTg|p.T2058M|0.3541147132169576|ACCCCAGGAACGGGAGATCAT|UNC13C_ENST00000539562.2_DE_NOVO_START_IN_FRAME/UNC13C_ENST00000537900.1_MISSENSE_p.T2056M/UNC13C_ENST00000545554.1_MISSENSE_p.T2058M|||||||||||||||||||||||||46|biliary_tract(2)_%7C_central_nervous_system(22)_%7C_pancreas(22)|||||||BC040740|NM_001080534.1|NP_001074003.1|HGNC:23149|unc-13_%20_homolog_%20_C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"unc-13_%20_homolog_%20_C_%20_(C._%20_elegans)"|Munc13-3_%2C__%20_DKFZp547H074||15q21.3|2016-06-24||2016-06-24|AK091491||440279|ENSG00000137766||NM_173166|836|UNC13_%20_homologs|CCDS45264|OTTHUMG00000172542|440279|614568|NM_001080534|Q8NB66|ENSG00000137766|uc059jkr.1|UN13C_HUMAN||Q0P613_%7C_Q8ND48_%7C_Q96NP3|Q8NB66|exocytosis_%20_(GO:0006887)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|cell_%20_junction_%20_(GO:0030054)_%7C_cytoplasm_%20_(GO:0005737)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_presynaptic_%20_active_%20_zone_%20_(GO:0048786)|diacylglycerol_%20_binding_%20_(GO:0019992)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +15 74528985 rs351175 T G . PASS FUNCOTATION=[CCDC33|hg19|chr15|74528985|74528985|DE_NOVO_START_IN_FRAME||SNP|T|T|G|g.chr15:74528985T>G|ENST00000398814.3|+|1|||||0.5561097256857855|CAGGACTGATTCCTGATCACC|CCDC33_ENST00000321288.5_INTRON|||||||||||||||||||||||||196|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(104)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC031684|NM_025055.4|NP_079331.3|HGNC:26552|coiled-coil_%20_domain_%20_containing_%20_33|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32855_%2C__%20_CT61|"cancer/testis_%20_antigen_%20_61"|15q24.1|2014-11-19|||BC025689||80125||12477932|NM_182791|823|C2_%20_domain_%20_containing|CCDS42058_%2C__%20_CCDS42059_%2C__%20_CCDS73753||80125||NM_001287181|Q8N5R6|ENSG00000140481|uc002axo.4|CCD33_HUMAN||A8K3U4_%7C_A8MPQ6_%7C_A8MV61_%7C_A8MVU9_%7C_B3KQ49_%7C_Q8TAX6_%7C_Q9H5Q6|Q8N5R6|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +15 77348407 exm1179460 G A . PASS FUNCOTATION=[TSPAN3|hg19|chr15|77348407|77348407|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr15:77348407G>A|ENST00000558745.1|-|2|||||0.3915211970074813|ACATCTTACCGTGGCAAGTCC|TSPAN3_ENST00000267970.4_SPLICE_SITE_p.T85M/TSPAN3_ENST00000561277.1_DE_NOVO_START_IN_FRAME/TSPAN3_ENST00000346495.2_SPLICE_SITE_p.T85M/TSPAN3_ENST00000424443.3_INTRON/TSPAN3_ENST00000559494.1_INTRON/TSPAN3_ENST00000558394.1_SPLICE_SITE|||||||||||||||||||||||||251|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(171)_%7C_lung(1)_%7C_pancreas(22)|||||||AC090181|||HGNC:17752|tetraspanin_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TM4SF8|"transmembrane_%20_4_%20_superfamily_%20_member_%20_8"|TM4-A_%2C__%20_TSPAN-3||15q24.3|2016-10-05|2005-03-21|2005-03-21|||10099|ENSG00000140391||NM_005724|768|Tetraspanins|CCDS10292_%2C__%20_CCDS10293_%2C__%20_CCDS53963|OTTHUMG00000143728|10099|613134|NM_001168412|O60637|ENSG00000140391|uc002bcj.4|TSN3_HUMAN||A6NEH4_%7C_B3KQQ2_%7C_B4DP19_%7C_Q9BW22_%7C_Q9NVX9|O60637||extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +16 66432463 exm1246534 C T . PASS FUNCOTATION=[CDH5|hg19|chr16|66432463|66432463|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr16:66432463C>T|ENST00000539168.1|+|4|||||0.5187032418952618|CGGATAATCACGGTAGGCATC|CDH5_ENST00000341529.3_SPLICE_SITE_p.H530H|||||||||||||||||||||||||895|biliary_tract(2)_%7C_breast(243)_%7C_central_nervous_system(61)_%7C_large_intestine(11)_%7C_lung(232)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_skin(42)_%7C_soft_tissue(36)_%7C_stomach(121)_%7C_urinary_tract(1)|||||||AK300322|||HGNC:1764|cadherin_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"cadherin_%20_5_%2C__%20_type_%20_2_%2C__%20_VE-cadherin_%20_(vascular_%20_epithelium)"_%2C__%20_"cadherin_%20_5_%2C__%20_type_%20_2_%20_(vascular_%20_endothelium)"|7B4_%2C__%20_CD144|"VE-cadherin"|16q21|2016-10-05||2016-01-15|X79981||1003|ENSG00000179776|2059658|NM_001795|1186_%7C_471|Type_%20_II_%20_classical_%20_cadherins_%7C_CD_%20_molecules|CCDS10804|OTTHUMG00000137495|1003|601120|NM_001795|P33151|ENSG00000179776|uc002eom.5|CADH5_HUMAN|Lenalidomide(DB00480)|Q4VAI5_%7C_Q4VAI6|P33151|adherens_%20_junction_%20_organization_%20_(GO:0034332)_%7C_blood_%20_vessel_%20_maturation_%20_(GO:0001955)_%7C_cell_%20_junction_%20_assembly_%20_(GO:0034329)_%7C_cell-cell_%20_junction_%20_organization_%20_(GO:0045216)_%7C_homophilic_%20_cell_%20_adhesion_%20_(GO:0007156)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_regulation_%20_of_%20_establishment_%20_of_%20_cell_%20_polarity_%20_(GO:2000114)|cell_%20_junction_%20_(GO:0030054)_%7C_cell-cell_%20_junction_%20_(GO:0005911)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_tight_%20_junction_%20_(GO:0005923)|beta-catenin_%20_binding_%20_(GO:0008013)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_ion_%20_channel_%20_binding_%20_(GO:0044325)_%7C_receptor_%20_binding_%20_(GO:0005102)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +17 4955266 psy_rs117556792 G A . PASS FUNCOTATION=[SLC52A1|hg19|chr17|4955266|4955266|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr17:4955266G>A|ENST00000512825.2|-|1|||||0.486284289276808|GCCAGGCACCGTGGCTCAGGC||||||||||||||||||||||||||||||||||AC012146|||HGNC:30225|solute_%20_carrier_%20_family_%20_52_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GPR172B|"G_%20_protein-coupled_%20_receptor_%20_172B"_%2C__%20_"solute_%20_carrier_%20_family_%20_52_%20_(riboflavin_%20_transporter)_%2C__%20_member_%20_1"|FLJ10060_%2C__%20_GPCR42_%2C__%20_PAR2_%2C__%20_hRFT1_%2C__%20_RFVT1|"riboflavin_%20_transporter_%20_1"|17p13.2|2016-10-05|2012-02-29|2016-02-17|AY070775||55065|ENSG00000132517|12740431_%2C__%20_18632736|NM_017986|752|Solute_%20_carriers|CCDS11066|OTTHUMG00000099448|55065|607883|NM_001104577|Q9NWF4|ENSG00000132517|uc002gap.5|S52A1_HUMAN||B5MEV1_%7C_B5MEV2_%7C_Q6P9E0_%7C_Q86UT0|Q9NWF4|riboflavin_%20_transport_%20_(GO:0032218)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|riboflavin_%20_transporter_%20_activity_%20_(GO:0032217)_%7C_virus_%20_receptor_%20_activity_%20_(GO:0001618)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +17 8021612 exm1290936 C A . PASS FUNCOTATION=[ALOXE3|hg19|chr17|8021612|8021612|DE_NOVO_START_OUT_FRAME||SNP|C|C|A|g.chr17:8021612C>A|ENST00000448843.2|-|2|||||0.6109725685785536|TATCAGGAGCCTGGGTTCCAC|ALOXE3_ENST00000380149.1_MISSENSE_p.Q55H/ALOXE3_ENST00000318227.3_MISSENSE_p.Q31H|||||||||||||||||||||||||184|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471108|NM_021628.2|NP_067641.2|HGNC:13743|arachidonate_%20_lipoxygenase_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||eLOX3_%2C__%20_E-LOX||17p13.1|2015-09-11|||AJ269499|1.13.11.-|59344|ENSG00000179148|||407|Arachidonate_%20_lipoxygenases|CCDS11130_%2C__%20_CCDS54084|OTTHUMG00000108179|59344|607206|NM_001165960|Q9BYJ1|ENSG00000179148|uc010cnr.4|LOXE3_HUMAN||B2R981_%7C_B7Z3W0_%7C_Q3ZB74_%7C_Q9H4F2_%7C_Q9HC22|Q9BYJ1|arachidonic_%20_acid_%20_metabolic_%20_process_%20_(GO:0019369)_%7C_ceramide_%20_biosynthetic_%20_process_%20_(GO:0046513)_%7C_establishment_%20_of_%20_skin_%20_barrier_%20_(GO:0061436)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_hepoxilin_%20_biosynthetic_%20_process_%20_(GO:0051122)_%7C_linoleic_%20_acid_%20_metabolic_%20_process_%20_(GO:0043651)_%7C_lipoxygenase_%20_pathway_%20_(GO:0019372)_%7C_peroxisome_%20_proliferator_%20_activated_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0035357)_%7C_sensory_%20_perception_%20_of_%20_pain_%20_(GO:0019233)_%7C_sphingolipid_%20_metabolic_%20_process_%20_(GO:0006665)|cytoplasm_%20_(GO:0005737)|hepoxilin_%20_A3_%20_synthase_%20_activity_%20_(GO:0051120)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)_%7C_lyase_%20_activity_%20_(GO:0016829)_%7C_oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_single_%20_donors_%20_with_%20_incorporation_%20_of_%20_molecular_%20_oxygen_%2C__%20_incorporation_%20_of_%20_two_%20_atoms_%20_of_%20_oxygen_%20_(GO:0016702)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +17 33772713 exm1882307 C A . PASS FUNCOTATION=[SLFN13|hg19|chr17|33772713|33772713|DE_NOVO_START_IN_FRAME||SNP|C|C|A|g.chr17:33772713C>A|ENST00000533791.1|-|1|||||0.4089775561097257|GAACTTGCACCTTAAAGTATT|SLFN13_ENST00000285013.6_SPLICE_SITE/SLFN13_ENST00000526861.1_SPLICE_SITE/SLFN13_ENST00000542635.1_SPLICE_SITE/SLFN13_ENST00000534689.1_SPLICE_SITE/SLFN13_ENST00000360502.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR749630|||HGNC:26481|schlafen_%20_family_%20_member_%20_13|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ31952||17q12|2015-09-11|||AL832726||146857||9846487|NM_144682|1110|Schlafen_%20_family|CCDS32620||146857|614957|NM_144682|Q68D06|ENSG00000154760|uc002hjl.2|SLN13_HUMAN||E1P645_%7C_Q658M1_%7C_Q6ZS51_%7C_Q96A81|Q68D06||intracellular_%20_(GO:0005622)|ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +17 43212963 exm2226509 G T . PASS FUNCOTATION=[ACBD4|hg19|chr17|43212963|43212963|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr17:43212963G>T|ENST00000431281.1|+|2|||||0.628428927680798|GGTTGAGGTAGGTAAGCCGAA|ACBD4_ENST00000591859.1_INTRON/ACBD4_ENST00000321854.8_FIVE_PRIME_FLANK/PLCD3_ENST00000322765.5_FIVE_PRIME_FLANK/ACBD4_ENST00000376955.4_FIVE_PRIME_FLANK/ACBD4_ENST00000398322.3_FIVE_PRIME_FLANK/ACBD4_ENST00000586346.1_FIVE_PRIME_FLANK/ACBD4_ENST00000592162.1_FIVE_PRIME_FLANK/PLCD3_ENST00000540511.1_FIVE_PRIME_FLANK/ACBD4_ENST00000591136.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471178|NM_001135704.1|NP_001129176.1|HGNC:23337|acyl-CoA_%20_binding_%20_domain_%20_containing_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"acyl-Coenzyme_%20_A_%20_binding_%20_domain_%20_containing_%20_4"|FLJ13322||17q21.31|2015-08-24||2010-04-30|BC029164||79777|ENSG00000181513||NM_024722|||CCDS42348_%2C__%20_CCDS45710_%2C__%20_CCDS45711|OTTHUMG00000180111|79777||NM_001135705|Q8NC06|ENSG00000181513|uc002iic.4|ACBD4_HUMAN||D3DX64_%7C_Q8IUT1_%7C_Q9H8Q4|Q8NC06|||fatty-acyl-CoA_%20_binding_%20_(GO:0000062)_%7C_lipid_%20_binding_%20_(GO:0008289)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +17 43212963 rs2291447 G T . PASS FUNCOTATION=[ACBD4|hg19|chr17|43212963|43212963|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr17:43212963G>T|ENST00000431281.1|+|2|||||0.628428927680798|GGTTGAGGTAGGTAAGCCGAA|ACBD4_ENST00000591859.1_INTRON/ACBD4_ENST00000321854.8_FIVE_PRIME_FLANK/PLCD3_ENST00000322765.5_FIVE_PRIME_FLANK/ACBD4_ENST00000376955.4_FIVE_PRIME_FLANK/ACBD4_ENST00000398322.3_FIVE_PRIME_FLANK/ACBD4_ENST00000586346.1_FIVE_PRIME_FLANK/ACBD4_ENST00000592162.1_FIVE_PRIME_FLANK/PLCD3_ENST00000540511.1_FIVE_PRIME_FLANK/ACBD4_ENST00000591136.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471178|NM_001135704.1|NP_001129176.1|HGNC:23337|acyl-CoA_%20_binding_%20_domain_%20_containing_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"acyl-Coenzyme_%20_A_%20_binding_%20_domain_%20_containing_%20_4"|FLJ13322||17q21.31|2015-08-24||2010-04-30|BC029164||79777|ENSG00000181513||NM_024722|||CCDS42348_%2C__%20_CCDS45710_%2C__%20_CCDS45711|OTTHUMG00000180111|79777||NM_001135705|Q8NC06|ENSG00000181513|uc002iic.4|ACBD4_HUMAN||D3DX64_%7C_Q8IUT1_%7C_Q9H8Q4|Q8NC06|||fatty-acyl-CoA_%20_binding_%20_(GO:0000062)_%7C_lipid_%20_binding_%20_(GO:0008289)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +17 45730168 exm1332330 C G . PASS FUNCOTATION=[KPNB1|hg19|chr17|45730168|45730168|DE_NOVO_START_OUT_FRAME||SNP|C|C|G|g.chr17:45730168C>G|ENST00000540627.1|+|2|||||0.4164588528678304|ATCTAAAGATCCAGATATCAA|KPNB1_ENST00000290158.4_MISSENSE_p.P70A/KPNB1_ENST00000535458.2_DE_NOVO_START_OUT_FRAME/KPNB1_ENST00000537679.1_FIVE_PRIME_FLANK/KPNB1_ENST00000577918.1_INTRON/RP11-580I16.2_ENST00000580045.1_FIVE_PRIME_FLANK/RP11-580I16.2_ENST00000582389.1_FIVE_PRIME_FLANK/RP11-580I16.2_ENST00000584391.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||343|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(171)_%7C_lung(1)_%7C_pancreas(22)|||||||AK316421|NM_001276453.1|NP_001263382.1|HGNC:6400|karyopherin_%20_subunit_%20_beta_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"karyopherin_%20_(importin)_%20_beta_%20_1"|NTF97_%2C__%20_IPOB_%2C__%20_MGC2155_%2C__%20_MGC2156_%2C__%20_MGC2157_%2C__%20_IMB1_%2C__%20_Impnb_%2C__%20_IPO1|"importin_%20_1"|17q21.32|2016-02-01||2016-02-01|L39793||3837|ENSG00000108424|7615630_%2C__%20_7627554|NM_002265|596_%7C_409|Importins_%7C_Armadillo_%20_repeat_%20_containing|CCDS11513_%2C__%20_CCDS62228|OTTHUMG00000036957|3837|602738|NM_001276453|Q14974|ENSG00000108424|uc002ilt.3|IMB1_HUMAN||B7ZAV6_%7C_D3DTT3_%7C_Q14637_%7C_Q53XN2_%7C_Q96J27|Q14974|apoptotic_%20_DNA_%20_fragmentation_%20_(GO:0006309)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_component_%20_disassembly_%20_involved_%20_in_%20_execution_%20_phase_%20_of_%20_apoptosis_%20_(GO:0006921)_%7C_cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_intracellular_%20_transport_%20_of_%20_virus_%20_(GO:0075733)_%7C_NLS-bearing_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006607)_%7C_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006606)_%7C_protein_%20_import_%20_into_%20_nucleus_%2C__%20_translocation_%20_(GO:0000060)_%7C_ribosomal_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006610)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_viral_%20_life_%20_cycle_%20_(GO:0019058)_%7C_viral_%20_process_%20_(GO:0016032)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endoplasmic_%20_reticulum_%20_tubular_%20_network_%20_(GO:0071782)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nuclear_%20_membrane_%20_(GO:0031965)_%7C_nuclear_%20_pore_%20_(GO:0005643)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|enzyme_%20_binding_%20_(GO:0019899)_%7C_nuclear_%20_localization_%20_sequence_%20_binding_%20_(GO:0008139)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_protein_%20_domain_%20_specific_%20_binding_%20_(GO:0019904)_%7C_protein_%20_transporter_%20_activity_%20_(GO:0008565)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +17 73242591 exm1353848 G A . PASS FUNCOTATION=[GGA3|hg19|chr17|73242591|73242591|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr17:73242591G>A|ENST00000582486.1|-|3|||||0.5960099750623441|AGGACCTACCGTCAGGGCCTG|GGA3_ENST00000578348.1_DE_NOVO_START_IN_FRAME/GGA3_ENST00000245541.6_SPLICE_SITE_p.T67M/GGA3_ENST00000582717.1_DE_NOVO_START_IN_FRAME/GGA3_ENST00000351904.7_SPLICE_SITE_p.T67M/GGA3_ENST00000537686.1_SPLICE_SITE_p.T67M/GGA3_ENST00000538886.1_INTRON/GGA3_ENST00000579743.1_SPLICE_SITE|||||||||||||||||||||||||155|biliary_tract(2)_%7C_breast(49)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||AC022211|NM_001172703.1|NP_001166174.1|HGNC:17079|golgi_%20_associated_%2C__%20_gamma_%20_adaptin_%20_ear_%20_containing_%2C__%20_ARF_%20_binding_%20_protein_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"golgi-associated_%2C__%20_gamma_%20_adaptin_%20_ear_%20_containing_%2C__%20_ARF_%20_binding_%20_protein_%20_3"|KIAA0154||17q25.1|2016-10-05||2016-03-30|AF190864||23163|ENSG00000125447|10747089_%2C__%20_10749927|NM_138619|1031|Golgi_%20_associated_%2C__%20_gamma_%20_adaptin_%20_ear_%20_containing_%2C__%20_ARF_%20_binding_%20_proteins|CCDS11716_%2C__%20_CCDS11717_%2C__%20_CCDS54164_%2C__%20_CCDS58597|OTTHUMG00000179483|23163|606006|NM_001172703|Q9NZ52|ENSG00000125447|uc032frk.2|GGA3_HUMAN||B7Z7E2_%7C_B7Z7M9_%7C_J3KRN0_%7C_Q15017_%7C_Q6IS16_%7C_Q9UJY3|Q9NZ52|intracellular_%20_protein_%20_transport_%20_(GO:0006886)_%7C_vesicle-mediated_%20_transport_%20_(GO:0016192)|clathrin_%20_adaptor_%20_complex_%20_(GO:0030131)_%7C_endosome_%20_(GO:0005768)_%7C_trans-Golgi_%20_network_%20_(GO:0005802)|ADP-ribosylation_%20_factor_%20_binding_%20_(GO:0030306)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +18 72914161 exm1393249 T C . PASS FUNCOTATION=[ZADH2|hg19|chr18|72914161|72914161|DE_NOVO_START_OUT_FRAME||SNP|T|T|C|g.chr18:72914161T>C|ENST00000537114.2|-|2|||||0.4837905236907731|GCCAACTGTGTATCTGGCACT|ZADH2_ENST00000322342.3_MISSENSE_p.Y115C|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AK302801|||HGNC:28697|zinc_%20_binding_%20_alcohol_%20_dehydrogenase_%20_domain_%20_containing_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45594||18q22.3|2015-07-16||2008-05-29|BC033780||284273|ENSG00000180011|12477932|NM_175907|||CCDS12008_%2C__%20_CCDS77198|OTTHUMG00000132858|284273||NM_001306093|Q8N4Q0|ENSG00000180011|uc002llx.4|ZADH2_HUMAN||A8KA15_%7C_B4DZ91|Q8N4Q0||mitochondrion_%20_(GO:0005739)_%7C_peroxisome_%20_(GO:0005777)|oxidoreductase_%20_activity_%20_(GO:0016491)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +18 72914280 rs7230037 G A . PASS FUNCOTATION=[ZADH2|hg19|chr18|72914280|72914280|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr18:72914280G>A|ENST00000537114.2|-|2|||||0.4389027431421446|TGTCAGATGCGTTAACACCAA|ZADH2_ENST00000322342.3_SILENT_p.N75N|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AK302801|||HGNC:28697|zinc_%20_binding_%20_alcohol_%20_dehydrogenase_%20_domain_%20_containing_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45594||18q22.3|2015-07-16||2008-05-29|BC033780||284273|ENSG00000180011|12477932|NM_175907|||CCDS12008_%2C__%20_CCDS77198|OTTHUMG00000132858|284273||NM_001306093|Q8N4Q0|ENSG00000180011|uc002llx.4|ZADH2_HUMAN||A8KA15_%7C_B4DZ91|Q8N4Q0||mitochondrion_%20_(GO:0005739)_%7C_peroxisome_%20_(GO:0005777)|oxidoreductase_%20_activity_%20_(GO:0016491)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +19 6670529 rs3760746 G A . PASS FUNCOTATION=[TNFSF14|hg19|chr19|6670529|6670529|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr19:6670529G>A|ENST00000599359.1|-|1|||||0.5336658354114713|AAGAAACCTCGTAAACAAGAA|TNFSF14_ENST00000326176.9_DE_NOVO_START_OUT_FRAME/TNFSF14_ENST00000245912.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||185|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(2)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR541871|||HGNC:11930|TNF_%20_superfamily_%20_member_%20_14|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_(ligand)_%20_superfamily_%2C__%20_member_%20_14"|LIGHT_%2C__%20_LTg_%2C__%20_HVEM-L_%2C__%20_CD258||19p13.3|2017-03-02||2017-03-02|AF036581||8740|ENSG00000125735|9462508||781_%7C_471|Tumor_%20_necrosis_%20_factor_%20_superfamily_%7C_CD_%20_molecules|CCDS12171_%2C__%20_CCDS45939|OTTHUMG00000181835|8740|604520|NM_003807|O43557|ENSG00000125735|uc002mfk.3|TNF14_HUMAN||A8K7M2_%7C_C9J5H4_%7C_O75476_%7C_Q6FHA1_%7C_Q8WVF8_%7C_Q96LD2|O43557|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_mechanical_%20_stimulus_%20_(GO:0071260)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_negative_%20_regulation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_(GO:0043154)_%7C_positive_%20_regulation_%20_of_%20_T_%20_cell_%20_chemotaxis_%20_(GO:0010820)_%7C_release_%20_of_%20_cytoplasmic_%20_sequestered_%20_NF-kappaB_%20_(GO:0008588)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_T_%20_cell_%20_activation_%20_(GO:0042110)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_homeostasis_%20_(GO:0043029)_%7C_T_%20_cell_%20_proliferation_%20_(GO:0042098)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|cysteine-type_%20_endopeptidase_%20_inhibitor_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_(GO:0043027)_%7C_receptor_%20_binding_%20_(GO:0005102)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +19 18994994 exm2253710 G A . PASS FUNCOTATION=[GDF1|hg19|chr19|18994994|18994994|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr19:18994994G>A|ENST00000247005.6|-|3|||||0.6259351620947631|ATAGCGTAGCGTAGATGGAGT|CERS1_ENST00000429504.2_SILENT_p.Y164Y/CERS1_ENST00000542296.2_SILENT_p.Y66Y/CERS1_ENST00000427170.2_SILENT_p.Y164Y|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||M62302|||HGNC:4214|growth_%20_differentiation_%20_factor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||19p13.11|2016-10-24|||M62302||2657|ENSG00000130283|2034669|NM_001492|542|Endogenous_%20_ligands|CCDS42526|OTTHUMG00000183278|2657|602880|NM_001492|P27539|ENSG00000130283|uc060vuk.1|GDF1_HUMAN||O43344|P27539|growth_%20_(GO:0040007)|extracellular_%20_space_%20_(GO:0005615)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +19 40542375 variant.55743 G A . PASS FUNCOTATION=[ZNF780B|hg19|chr19|40542375|40542375|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr19:40542375G>A|ENST00000221355.6|-|6|||||0.32917705735660846|TGTCCCTGTCGTCCCTCAAAT|ZNF780B_ENST00000434248.1_NONSENSE_p.R131*|||||||||||||||||||||||||46|biliary_tract(2)_%7C_central_nervous_system(22)_%7C_pancreas(22)|||||||CH471126|||HGNC:33109|zinc_%20_finger_%20_protein_%20_780B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZNF779|"zinc_%20_finger_%20_protein_%20_779"|||19q13.2|2017-03-10||2006-08-15|AK127063||163131|ENSG00000128000||NM_001005851|28|Zinc_%20_fingers_%20_C2H2-type|CCDS46077|OTTHUMG00000155118|163131||NM_001005851|Q9Y6R6|ENSG00000128000|uc060yoj.1|Z780B_HUMAN||B9EH00|Q9Y6R6|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +19 41903671 rs892044 A G . PASS FUNCOTATION=[BCKDHA|hg19|chr19|41903671|41903671|DE_NOVO_START_OUT_FRAME||SNP|A|A|G|g.chr19:41903671A>G|ENST00000269980.2|+|1|||||0.5511221945137157|TCAGGCACATAAAGAGGCAGC|CTC-435M10.3_ENST00000540732.1_INTRON/BCKDHA_ENST00000595085.1_INTRON/EXOSC5_ENST00000221233.4_FIVE_PRIME_FLANK/BCKDHA_ENST00000457836.2_FIVE_PRIME_FLANK/EXOSC5_ENST00000596905.1_FIVE_PRIME_FLANK/CTC-435M10.3_ENST00000604424.1_INTRON/CTC-435M10.10_ENST00000598988.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z14093|NM_001164783.1|NP_001158255.1|HGNC:986|branched_%20_chain_%20_keto_%20_acid_%20_dehydrogenase_%20_E1_%2C__%20_alpha_%20_polypeptide|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|OVD1A|"branched_%20_chain_%20_keto_%20_acid_%20_dehydrogenase_%20_E1_%2C__%20_alpha_%20_polypeptide_%20_(maple_%20_syrup_%20_urine_%20_disease)"_%2C__%20_"2-oxoisovalerate_%20_dehydrogenase_%20_(lipoamide)"|MSU|"maple_%20_syrup_%20_urine_%20_disease"|19q13.2|2016-10-05||2005-11-29|J04474||593|ENSG00000248098||NM_000709|||CCDS12581|OTTHUMG00000168128|593|608348|NM_000709|P12694|ENSG00000248098|uc002oqq.4|ODBA_HUMAN||B4DP47_%7C_E7EW46_%7C_Q16034_%7C_Q16472|P12694|branched-chain_%20_amino_%20_acid_%20_catabolic_%20_process_%20_(GO:0009083)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_response_%20_to_%20_cAMP_%20_(GO:0051591)_%7C_response_%20_to_%20_glucocorticoid_%20_(GO:0051384)_%7C_response_%20_to_%20_nutrient_%20_(GO:0007584)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_alpha-ketoglutarate_%20_dehydrogenase_%20_complex_%20_(GO:0005947)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_mitochondrion_%20_(GO:0005739)|3-methyl-2-oxobutanoate_%20_dehydrogenase_%20_(2-methylpropanoyl-transferring)_%20_activity_%20_(GO:0003863)_%7C_alpha-ketoacid_%20_dehydrogenase_%20_activity_%20_(GO:0003826)_%7C_carboxy-lyase_%20_activity_%20_(GO:0016831)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 3718692 rs13409104 C T . PASS FUNCOTATION=[ALLC|hg19|chr2|3718692|3718692|DE_NOVO_START_IN_FRAME||SNP|C|C|T|g.chr2:3718692C>T|ENST00000252505.3|+|2|||||0.5211970074812967|CCAGGAAGCACGGCTGATGCT||||||||||||||||||||||||||143|central_nervous_system(23)_%7C_upper_aerodigestive_tract(120)|||||||CH471053|NM_018436.3|NP_060906.3|HGNC:17377|allantoicase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ALC||2p25.3|2014-11-18|||AF215924||55821|ENSG00000151360|11054555||||CCDS46223|OTTHUMG00000151485|55821|612396|NM_018436|Q8N6M5|ENSG00000151360|uc010ewt.4|ALLC_HUMAN||Q53T95_%7C_Q5RL81_%7C_Q96RE6_%7C_Q9NZA7|Q8N6M5|allantoin_%20_catabolic_%20_process_%20_(GO:0000256)||allantoicase_%20_activity_%20_(GO:0004037)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 25194771 exm2018058 C T . PASS FUNCOTATION=[DNAJC27|hg19|chr2|25194771|25194771|START_CODON_SNP||SNP|C|C|T|g.chr2:25194771C>T|ENST00000264711.2|-|1|193|c.3G>A|c.(1-3)atG>atA|p.M1I|0.713216957605985|TGTTGGCCTCCATGGCCCTGG|DNAJC27_ENST00000534855.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000421904.1_RNA/DNAJC27-AS1_ENST00000451291.1_RNA/SNORD14_ENST00000365609.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000421842.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000422449.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000428614.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000434897.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000445389.1_FIVE_PRIME_FLANK/DNAJC27_ENST00000468467.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471053|NM_016544.2|NP_057628.1|HGNC:30290|DnaJ_%20_heat_%20_shock_%20_protein_%20_family_%20_(Hsp40)_%20_member_%20_C27|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|RBJ|"rab_%20_and_%20_DnaJ_%20_domain_%20_containing"_%2C__%20_"DnaJ_%20_(Hsp40)_%20_homolog_%2C__%20_subfamily_%20_C_%2C__%20_member_%20_27"|RabJS||2p23.3|2015-11-19|2008-08-20|2015-11-19|||51277|ENSG00000115137|14980719|NM_016544|584|DNAJ_%20_(HSP40)_%20_heat_%20_shock_%20_proteins|CCDS1716_%2C__%20_CCDS74493|OTTHUMG00000125524|51277|613527|NM_001198559|Q9NZQ0|ENSG00000115137|uc002rft.2|DJC27_HUMAN||Q5JV88_%7C_Q86Y24|Q9NZQ0|small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|mitochondrion_%20_(GO:0005739)|GTP_%20_binding_%20_(GO:0005525)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 26679385 exm178577 A C . PASS FUNCOTATION=[DRC1|hg19|chr2|26679385|26679385|NONSTOP||SNP|A|A|C|g.chr2:26679385A>C|ENST00000288710.2|+|17|2297|c.2223A>C|c.(2221-2223)tgA>tgC|p.*741C|0.5411471321695761|CCACAAAATGAGCTGGACCGC||||||||||||||||||||||||||||||||||AL833892|NM_145038.2|NP_659475.2|HGNC:24245|dynein_%20_regulatory_%20_complex_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C2orf39_%2C__%20_CCDC164|"chromosome_%20_2_%20_open_%20_reading_%20_frame_%20_39"_%2C__%20_"coiled-coil_%20_domain_%20_containing_%20_164"_%2C__%20_"dynein_%20_regulatory_%20_complex_%20_subunit_%20_1_%20_homolog_%20_(Chlamydomonas)"|MGC16372_%2C__%20_FLJ32660_%2C__%20_CILD21||2p23.3|2014-11-19|2013-03-14|2014-07-18|AL833892||92749|ENSG00000157856|23354437|NM_145038|981|Dynein_%20_regulatory_%20_complex|CCDS1723|OTTHUMG00000125531|92749|615288|NM_145038|Q96MC2|ENSG00000157856|uc002rhg.2|DRC1_HUMAN||A8K1N8_%7C_Q53R91_%7C_Q53TA3_%7C_Q8NDI5|Q96MC2|axonemal_%20_dynein_%20_complex_%20_assembly_%20_(GO:0070286)_%7C_bacterial-type_%20_flagellum-dependent_%20_cell_%20_motility_%20_(GO:0071973)_%7C_cilium-dependent_%20_cell_%20_motility_%20_(GO:0060285)|axoneme_%20_(GO:0005930)_%7C_cytoskeleton_%20_(GO:0005856)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 27870801 indel.59967 G GGC . PASS FUNCOTATION=[GPN1|hg19|chr2|27870801|27870802|FRAME_SHIFT_INS||INS|-|-|GC|g.chr2:27870801_27870802insGC|ENST00000610189.1|+|13|1037|c.1030_1031insGC|c.(1030-1032)gacfs|p.D344fs|0.4575|GATGACATTGACCACAGAGG|GPN1_ENST00000264718.3_FRAME_SHIFT_INS_p.D358fs/GPN1_ENST00000424214.1_FRAME_SHIFT_INS_p.D265fs/GPN1_ENST00000515877.1_FRAME_SHIFT_INS_p.D265fs/GPN1_ENST00000458167.2_FRAME_SHIFT_INS_p.D249fs/GPN1_ENST00000407583.3_FRAME_SHIFT_INS_p.D332fs/GPN1_ENST00000503738.1_FRAME_SHIFT_INS_p.D249fs|||||||||||||||||||||||||116|central_nervous_system(22)_%7C_kidney(92)_%7C_lung(2)|||||||CH471053|NM_007266.3|NP_009197.2|HGNC:17030|GPN-loop_%20_GTPase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|XAB1|"XPA_%20_binding_%20_protein_%20_1"_%2C__%20_"XPA_%20_binding_%20_protein_%20_1_%2C__%20_GTPase"|NTPBP_%2C__%20_MBDIN_%2C__%20_ATPBD1A_%2C__%20_RPAP4|"RNA_%20_polymerase_%20_II_%20_associated_%20_protein_%20_4"|2p23.3|2014-11-19|2008-04-30|2008-04-30|AB044661||11321|ENSG00000198522|11058119_%2C__%20_11124703|NM_007266|578|GPN-loop_%20_GTPases|CCDS1760_%2C__%20_CCDS46248_%2C__%20_CCDS46249_%2C__%20_CCDS46250|OTTHUMG00000097784|11321|611479|NM_001145047|Q9HCN4|ENSG00000198522|uc061hra.1|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 29093143 exm183039 T C . PASS FUNCOTATION=[TRMT61B|hg19|chr2|29093143|29093143|START_CODON_SNP||SNP|T|T|C|g.chr2:29093143T>C|ENST00000306108.5|-|1|25|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6533665835411472|GCCATTAGCATAGTGTTTCGC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471053|NM_017910.3|NP_060380.3|HGNC:26070|tRNA_%20_methyltransferase_%20_61B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tRNA_%20_methyltransferase_%20_61_%20_homolog_%20_B_%20_(S._%20_cerevisiae)"|FLJ20628||2p23.2|2014-11-19||2014-11-17|BC010365||55006|ENSG00000171103|11230166_%2C__%20_23097428|NM_017910|1400|Seven-beta-strand_%20_methyltransferase_%20_motif_%20_containing|CCDS1768|OTTHUMG00000128433|55006||NM_017910|Q9BVS5|ENSG00000171103|uc002rmm.5|TR61B_HUMAN||Q9H0Q9_%7C_Q9NWS7|Q9BVS5|mitochondrial_%20_tRNA_%20_methylation_%20_(GO:0070901)_%7C_protein_%20_homooligomerization_%20_(GO:0051260)|mitochondrion_%20_(GO:0005739)_%7C_tRNA_%20_(m1A)_%20_methyltransferase_%20_complex_%20_(GO:0031515)|tRNA_%20_(adenine-N1-)-methyltransferase_%20_activity_%20_(GO:0016429)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 54483287 exm194087 A G . PASS FUNCOTATION=[TSPYL6|hg19|chr2|54483287|54483287|START_CODON_SNP||SNP|A|A|G|g.chr2:54483287A>G|ENST00000317802.7|-|1|123|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6034912718204489|CGGGAGGCTCATGTTGGTAGC|ACYP2_ENST00000394666.3_INTRON/ACYP2_ENST00000607452.1_INTRON/ACYP2_ENST00000303536.4_INTRON/ACYP2_ENST00000606865.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_soft_tissue(1)|||||||BC068576|NM_001003937.2|NP_001003937.2|HGNC:14521|TSPY_%20_like_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||2p16.2|2016-10-05||2016-07-01|AK097417||388951|ENSG00000178021||XM_371494|||CCDS42682|OTTHUMG00000151823|388951||NM_001003937|Q8N831|ENSG00000178021|uc002rxr.3|TSYL6_HUMAN||Q6NUJ3|Q8N831|nucleosome_%20_assembly_%20_(GO:0006334)|nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 54483288 exm194088 T C . PASS FUNCOTATION=[TSPYL6|hg19|chr2|54483288|54483288|START_CODON_SNP||SNP|T|T|C|g.chr2:54483288T>C|ENST00000317802.7|-|1|122|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.600997506234414|GGGAGGCTCATGTTGGTAGCG|ACYP2_ENST00000394666.3_INTRON/ACYP2_ENST00000607452.1_INTRON/ACYP2_ENST00000303536.4_INTRON/ACYP2_ENST00000606865.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_soft_tissue(1)|||||||BC068576|NM_001003937.2|NP_001003937.2|HGNC:14521|TSPY_%20_like_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||2p16.2|2016-10-05||2016-07-01|AK097417||388951|ENSG00000178021||XM_371494|||CCDS42682|OTTHUMG00000151823|388951||NM_001003937|Q8N831|ENSG00000178021|uc002rxr.3|TSYL6_HUMAN||Q6NUJ3|Q8N831|nucleosome_%20_assembly_%20_(GO:0006334)|nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 54558114 exm194103 T C . PASS FUNCOTATION=[C2orf73|hg19|chr2|54558114|54558114|START_CODON_SNP||SNP|T|T|C|g.chr2:54558114T>C|ENST00000398634.2|+|1|44|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.5660847880299252|TAGAGGCCCATGGAGGAAAAG|C2orf73_ENST00000405749.1_START_CODON_SNP_p.M1T/C2orf73_ENST00000491538.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CH471053|NM_001100396.1|NP_001093866.1|HGNC:26861|chromosome_%20_2_%20_open_%20_reading_%20_frame_%20_73|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ40298||2p16.2|2017-08-04|||BC031669_%2C__%20_AK097617||129852|ENSG00000177994|14702039|NM_001100396|||CCDS46285|OTTHUMG00000151826|129852||NM_001100396|Q8N5S3|ENSG00000177994|uc002rxt.1|CB073_HUMAN||A0AV79_%7C_A0AV81_%7C_Q8N7V4|Q8N5S3|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 71163086 exm200378 T C . PASS FUNCOTATION=[ATP6V1B1|hg19|chr2|71163086|71163086|START_CODON_SNP||SNP|T|T|C|g.chr2:71163086T>C|ENST00000234396.4|+|1|75|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6508728179551122|GACTGCTCCATGGCCATGGAG|ATP6V1B1_ENST00000412314.1_START_CODON_SNP_p.M1T|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M25809|NM_001692.3|NP_001683.2|HGNC:853|ATPase_%20_H+_%20_transporting_%20_V1_%20_subunit_%20_B1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|VPP3_%2C__%20_ATP6B1|"vacuolar_%20_proton_%20_pump_%20_3"_%2C__%20_"ATPase_%2C__%20_H+_%20_transporting_%2C__%20_lysosomal_%20_56/58kDa_%2C__%20_V1_%20_subunit_%20_B1"|VATB_%2C__%20_RTA1B_%2C__%20_Vma2|"Renal_%20_tubular_%20_acidosis_%20_with_%20_deafness"|2p13.3|2016-10-05|2002-05-10|2016-02-11|AF107466|3.6.3.14|525|ENSG00000116039|9916796_%2C__%20_2527371|NM_001692|415|V-type_%20_ATPases|CCDS1912|OTTHUMG00000129711|525|192132|NM_001692|P15313|ENSG00000116039|uc002shj.4|VATB1_HUMAN||Q53FY0_%7C_Q6P4H6|P15313|ATP_%20_hydrolysis_%20_coupled_%20_proton_%20_transport_%20_(GO:0015991)_%7C_ATP_%20_metabolic_%20_process_%20_(GO:0046034)_%7C_calcium_%20_ion_%20_homeostasis_%20_(GO:0055074)_%7C_cellular_%20_iron_%20_ion_%20_homeostasis_%20_(GO:0006879)_%7C_excretion_%20_(GO:0007588)_%7C_inner_%20_ear_%20_morphogenesis_%20_(GO:0042472)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_interaction_%20_with_%20_host_%20_(GO:0051701)_%7C_ossification_%20_(GO:0001503)_%7C_pH_%20_reduction_%20_(GO:0045851)_%7C_phagosome_%20_maturation_%20_(GO:0090382)_%7C_proton_%20_transport_%20_(GO:0015992)_%7C_regulation_%20_of_%20_pH_%20_(GO:0006885)_%7C_sensory_%20_perception_%20_of_%20_sound_%20_(GO:0007605)_%7C_transferrin_%20_transport_%20_(GO:0033572)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_basolateral_%20_plasma_%20_membrane_%20_(GO:0016323)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_lateral_%20_plasma_%20_membrane_%20_(GO:0016328)_%7C_microvillus_%20_(GO:0005902)_%7C_proton-transporting_%20_V-type_%20_ATPase_%2C__%20_V1_%20_domain_%20_(GO:0033180)_%7C_vacuolar_%20_proton-transporting_%20_V-type_%20_ATPase_%20_complex_%20_(GO:0016471)|ATP_%20_binding_%20_(GO:0005524)_%7C_hydrogen_%20_ion_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015078)_%7C_hydrolase_%20_activity_%2C__%20_acting_%20_on_%20_acid_%20_anhydrides_%2C__%20_catalyzing_%20_transmembrane_%20_movement_%20_of_%20_substances_%20_(GO:0016820)||||true|false|0.6312_%2C_0.3688|false|false|1||false|true|true|ATP6V1B1:525|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|false|true|11681642|71163086|false|false|0|true|0|false||false|false|false|SNV|true|0x050128000a05170537000100|1|false|120|rs11681642|] +2 74709963 exm204648 A G . PASS FUNCOTATION=[CCDC142|hg19|chr2|74709963|74709963|START_CODON_SNP||SNP|A|A|G|g.chr2:74709963A>G|ENST00000290418.4|-|1|161|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6633416458852868|CGCCTGGGCCATGGGGCGGCG|CCDC142_ENST00000393965.3_START_CODON_SNP_p.M1T/TTC31_ENST00000233623.5_FIVE_PRIME_FLANK/TTC31_ENST00000410003.1_FIVE_PRIME_FLANK/TTC31_ENST00000442235.2_FIVE_PRIME_FLANK/CCDC142_ENST00000471713.1_INTRON/TTC31_ENST00000463189.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC143398|||HGNC:25889|coiled-coil_%20_domain_%20_containing_%20_142|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ14397||2p13.1|2014-11-19|||AK075543||84865|ENSG00000135637||NM_032779|||CCDS1945|OTTHUMG00000129962|84865||NM_032779|Q17RM4|ENSG00000135637|uc002slq.4|CC142_HUMAN||B7ZKV5_%7C_Q8NBJ3_%7C_Q8NBV2_%7C_Q96KA7|Q17RM4|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 84777170 indel.61662 C CT . PASS FUNCOTATION=[DNAH6|hg19|chr2|84777170|84777171|FRAME_SHIFT_INS||INS|-|-|T|g.chr2:84777170_84777171insT|ENST00000237449.6|+|8|1482|c.1474_1475insT|c.(1474-1476)cctfs|p.P492fs|0.36|CCTGAAGTCCCTGATAAAAA|DNAH6_ENST00000389394.3_FRAME_SHIFT_INS_p.P492fs/DNAH6_ENST00000398278.2_FRAME_SHIFT_INS_p.P492fs|||||||||||||||||||||||||81|biliary_tract(2)_%7C_central_nervous_system(45)_%7C_oesophagus(12)_%7C_pancreas(22)|||||||U61736|||HGNC:2951|dynein_%20_axonemal_%20_heavy_%20_chain_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DNHL1|"dynein_%2C__%20_axonemal_%2C__%20_heavy_%20_polypeptide_%20_6"_%2C__%20_"dynein_%20_heavy_%20_chain-like_%20_1"|Dnahc6_%2C__%20_HL-2_%2C__%20_FLJ37357||2p11.2|2016-03-02||2016-03-02|U61736||1768|ENSG00000115423|8812413|NM_001370|536|Dyneins_%2C__%20_axonemal|CCDS46348|OTTHUMG00000128957|1768|603336|NM_001370|Q9C0G6|ENSG00000115423|uc010fgb.3|DYH6_HUMAN||A0PJN9_%7C_B5MEE0_%7C_B7ZL99_%7C_O95493_%7C_Q53QZ1_%7C_Q53TE5_%7C_Q8N1W6_%7C_Q92861_%7C_Q96BL6_%7C_Q9H030_%7C_Q9H5E1|Q9C0G6|cilium_%20_or_%20_flagellum-dependent_%20_cell_%20_motility_%20_(GO:0001539)_%7C_metabolic_%20_process_%20_(GO:0008152)_%7C_microtubule-based_%20_movement_%20_(GO:0007018)|axonemal_%20_dynein_%20_complex_%20_(GO:0005858)_%7C_microtubule_%20_(GO:0005874)|ATP_%20_binding_%20_(GO:0005524)_%7C_ATPase_%20_activity_%20_(GO:0016887)_%7C_microtubule_%20_motor_%20_activity_%20_(GO:0003777)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 85629266 exm207178 C T . PASS FUNCOTATION=[CAPG|hg19|chr2|85629266|85629266|START_CODON_SNP||SNP|C|C|T|g.chr2:85629266C>T|ENST00000409921.1|-|2|70|c.3G>A|c.(1-3)atG>atA|p.M1I|0.5261845386533666|TGGCTGTGTACATGCTGTCTT|CAPG_ENST00000263867.4_START_CODON_SNP_p.M1I/CAPG_ENST00000409670.1_START_CODON_SNP_p.M1I/CAPG_ENST00000409724.1_START_CODON_SNP_p.M1I/CAPG_ENST00000483659.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||161|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_lung(1)_%7C_pancreas(22)|||||||U12026|||HGNC:1474|capping_%20_actin_%20_protein_%2C__%20_gelsolin_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AFCP|"capping_%20_protein_%20_(actin_%20_filament)_%2C__%20_gelsolin-like"|MCP|"macrophage_%20_capping_%20_protein"|2p11.2|2016-01-18||2016-01-18|M94345||822|ENSG00000042493|1322908_%2C__%20_12754261|NM_001747|950|Gelsolin/villins|CCDS1974_%2C__%20_CCDS58715|OTTHUMG00000130183|822|153615|NM_001256139|P40121|ENSG00000042493|uc061lgh.1|CND3_HUMAN||Q3MJE0_%7C_Q96SV9_%7C_Q9BUR3_%7C_Q9BVY1_%7C_Q9H914_%7C_Q9H9Z6_%7C_Q9HBI9|Q9BPX3|mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_mitotic_%20_chromosome_%20_condensation_%20_(GO:0007076)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_centrosome_%20_(GO:0005813)_%7C_condensin_%20_complex_%20_(GO:0000796)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 86849962 indel.61839 G GC . PASS FUNCOTATION=[RNF103|hg19|chr2|86849962|86849963|FRAME_SHIFT_INS||INS|-|-|C|g.chr2:86849962_86849963insC|ENST00000237455.4|-|1|1017|c.47_48insG|c.(46-48)ttcfs|p.F16fs|0.6125|GGCCAGGACGAACAGGACCA|RNF103-CHMP3_ENST00000604011.1_INTRON/CHMP3_ENST00000439940.2_INTRON/RNF103_ENST00000477307.1_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||D76444|NM_005667.3|NP_005658.1|HGNC:12859|ring_%20_finger_%20_protein_%20_103|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZFP103|"zinc_%20_finger_%20_protein_%20_103_%20_homolog_%20_(mouse)"|hkf-1_%2C__%20_KF1||2p11.2|2014-11-19|2003-05-16|2003-05-14|D76444||7844|ENSG00000239305|9070305|NM_005667|58|Ring_%20_finger_%20_proteins|CCDS33237|OTTHUMG00000153197|7844|602507|NM_001198951|O00237|ENSG00000239305|uc002srn.4|RN103_HUMAN||A6NFV6_%7C_B2RAG4_%7C_Q53SU6_%7C_Q8IVB9|O00237|central_%20_nervous_%20_system_%20_development_%20_(GO:0007417)_%7C_ER-associated_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0030433)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|ligase_%20_activity_%20_(GO:0016874)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 96859067 indel.61977 T TC . PASS FUNCOTATION=[STARD7|hg19|chr2|96859067|96859068|FRAME_SHIFT_INS||INS|-|-|C|g.chr2:96859067_96859068insC|ENST00000337288.5|-|4|957|c.572_573insG|c.(571-573)aaafs|p.W192fs|0.4125|GGCATCCCATTTTTTTCTAT|STARD7_ENST00000462501.1_INTRON|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471207|NM_020151.3|NP_064536.2|HGNC:18063|StAR_%20_related_%20_lipid_%20_transfer_%20_domain_%20_containing_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"START_%20_domain_%20_containing_%20_7"|GTT1||2q11.2|2016-10-05||2015-11-20|AF270647||56910|ENSG00000084090|||759|StAR_%20_related_%20_lipid_%20_transfer_%20_domain_%20_containing|CCDS2017|OTTHUMG00000130457|56910|616712|NM_020151|Q9NQZ5|ENSG00000084090|uc002svm.6|STAR7_HUMAN||D3DXG9_%7C_Q53T44_%7C_Q6GU43_%7C_Q969M6|Q9NQZ5||mitochondrion_%20_(GO:0005739)|lipid_%20_binding_%20_(GO:0008289)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 101086951 exm216544 A G . PASS FUNCOTATION=[NMS|hg19|chr2|101086951|101086951|START_CODON_SNP||SNP|A|A|G|g.chr2:101086951A>G|ENST00000376865.1|+|1|8|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5536159600997507|GACTCTCACAATGAAACATCT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AB164464|NM_001011717.1|NP_001011717.1|HGNC:32203|neuromedin_%20_S|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||||"prepro-NMS"|2q11.2|2014-11-19|||AB164464||129521|ENSG00000204640|15635449|NM_001011717|542|Endogenous_%20_ligands|CCDS33259|OTTHUMG00000153142|129521||NM_001011717|Q5H8A3|ENSG00000204640|uc002tan.1|NMS_HUMAN|||Q5H8A3|neuropeptide_%20_signaling_%20_pathway_%20_(GO:0007218)|extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 101086952 exm216545 T C . PASS FUNCOTATION=[NMS|hg19|chr2|101086952|101086952|START_CODON_SNP||SNP|T|T|C|g.chr2:101086952T>C|ENST00000376865.1|+|1|9|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.5536159600997507|ACTCTCACAATGAAACATCTT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AB164464|NM_001011717.1|NP_001011717.1|HGNC:32203|neuromedin_%20_S|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||||"prepro-NMS"|2q11.2|2014-11-19|||AB164464||129521|ENSG00000204640|15635449|NM_001011717|542|Endogenous_%20_ligands|CCDS33259|OTTHUMG00000153142|129521||NM_001011717|Q5H8A3|ENSG00000204640|uc002tan.1|NMS_HUMAN|||Q5H8A3|neuropeptide_%20_signaling_%20_pathway_%20_(GO:0007218)|extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 102804330 exm1974089 G C . PASS FUNCOTATION=[IL1RL2|hg19|chr2|102804330|102804330|START_CODON_SNP||SNP|G|G|C|g.chr2:102804330G>C|ENST00000264257.2|+|2|129|c.3G>C|c.(1-3)atG>atC|p.M1I|0.6633416458852868|GTTTGGGGATGTGGTCCTTGC|IL1RL2_ENST00000539491.1_START_CODON_SNP_p.M1I/IL1RL2_ENST00000441515.2_MISSENSE_p.C28S/IL1RL2_ENST00000481806.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U49065|NM_003854.2|NP_003845.2|HGNC:5999|interleukin_%20_1_%20_receptor_%20_like_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||IL1R-rp2_%2C__%20_IL1RRP2||2q12.1|2016-10-05||2016-01-12|U49065||8808|ENSG00000115598|8898719_%2C__%20_10191101_%2C__%20_11466363|NM_003854|594_%7C_602_%7C_1296|Immunoglobulin_%20_like_%20_domain_%20_containing_%7C_Interleukin_%20_receptors_%7C_TIR_%20_domain_%20_containing|CCDS2056|OTTHUMG00000130776|8808|604512|NM_003854|Q9HB29|ENSG00000115598|uc002tbs.4|ILRL2_HUMAN||A4FU63_%7C_Q13525_%7C_Q45H74_%7C_Q53TU8_%7C_Q587I8|Q9HB29|cellular_%20_defense_%20_response_%20_(GO:0006968)_%7C_cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_positive_%20_regulation_%20_of_%20_interleukin-6_%20_production_%20_(GO:0032755)_%7C_positive_%20_regulation_%20_of_%20_T_%20_cell_%20_differentiation_%20_(GO:0045582)_%7C_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050727)_%7C_signal_%20_transduction_%20_(GO:0007165)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|interleukin-1_%20_receptor_%20_activity_%20_(GO:0004908)_%7C_interleukin-1_%2C__%20_Type_%20_I_%2C__%20_activating_%20_receptor_%20_activity_%20_(GO:0004909)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 108863652 exm218990 T C . PASS FUNCOTATION=[SULT1C3|hg19|chr2|108863652|108863652|START_CODON_SNP||SNP|T|T|C|g.chr2:108863652T>C|ENST00000329106.2|+|1|2|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.32917705735660846|AGATTCCCAATGGCGAAGATT|SULT1C3_ENST00000376700.1_START_CODON_SNP_p.M1T|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BK001432|NM_001008743.1|NP_001008743.1|HGNC:33543|sulfotransferase_%20_family_%20_1C_%20_member_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sulfotransferase_%20_family_%2C__%20_cytosolic_%2C__%20_1C_%2C__%20_member_%20_3"|||2q12.3|2015-11-06||2015-11-06|BC146362||442038|ENSG00000196228|14676822_%2C__%20_17425406|NM_001008743|762|Sulfotransferases_%2C__%20_cytosolic|CCDS33267|OTTHUMG00000153227|442038|617151|NM_001008743|Q6IMI6|ENSG00000196228|uc010ywo.2|ST1C3_HUMAN||Q6IMI5|Q6IMI6|sulfur_%20_compound_%20_metabolic_%20_process_%20_(GO:0006790)|cytoplasm_%20_(GO:0005737)|alcohol_%20_sulfotransferase_%20_activity_%20_(GO:0004027)_%7C_aryl_%20_sulfotransferase_%20_activity_%20_(GO:0004062)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 109087292 indel.62391 C CG . PASS FUNCOTATION=[GCC2|hg19|chr2|109087292|109087293|FRAME_SHIFT_INS||INS|-|-|G|g.chr2:109087292_109087293insG|ENST00000309863.6|+|6|2221|c.1507_1508insG|c.(1507-1509)caafs|p.Q503fs|0.35|AAAATAAGTCAAGAGTTCGA||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471182|NM_181453.3|NP_852118.1|HGNC:23218|GRIP_%20_and_%20_coiled-coil_%20_domain_%20_containing_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"GRIP_%20_and_%20_coiled-coil_%20_domain-containing_%20_2"|GCC185_%2C__%20_KIAA0336||2q12.3|2015-08-25||2004-03-05|BC020645||9648|ENSG00000135968|12446665|NM_014635|||CCDS33268|OTTHUMG00000153214|9648|612711|NM_181453|Q8IWJ2|ENSG00000135968|uc002tec.4|GCC2_HUMAN||A6H8X8_%7C_O15045_%7C_Q4ZG46_%7C_Q8TDH3_%7C_Q9H2G8|Q8IWJ2|Golgi_%20_ribbon_%20_formation_%20_(GO:0090161)_%7C_late_%20_endosome_%20_to_%20_Golgi_%20_transport_%20_(GO:0034499)_%7C_microtubule_%20_anchoring_%20_(GO:0034453)_%7C_microtubule_%20_organizing_%20_center_%20_organization_%20_(GO:0031023)_%7C_protein_%20_localization_%20_to_%20_Golgi_%20_apparatus_%20_(GO:0034067)_%7C_protein_%20_targeting_%20_to_%20_Golgi_%20_(GO:0000042)_%7C_protein_%20_targeting_%20_to_%20_lysosome_%20_(GO:0006622)_%7C_recycling_%20_endosome_%20_to_%20_Golgi_%20_transport_%20_(GO:0071955)_%7C_regulation_%20_of_%20_protein_%20_exit_%20_from_%20_endoplasmic_%20_reticulum_%20_(GO:0070861)_%7C_retrograde_%20_transport_%2C__%20_endosome_%20_to_%20_Golgi_%20_(GO:0042147)|cytoplasm_%20_(GO:0005737)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)_%7C_trans-Golgi_%20_network_%20_(GO:0005802)|identical_%20_protein_%20_binding_%20_(GO:0042802)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 113765465 indel.62587 C CGA . PASS FUNCOTATION=[IL36A|hg19|chr2|113765465|113765466|FRAME_SHIFT_INS||INS|-|-|GA|g.chr2:113765465_113765466insGA|ENST00000259211.6|+|4|732|c.321_322insGA|c.(322-324)tacfs|p.Y108fs|0.4625|CTTTCTCTTCTACCACAGCC||||||||||||||||||||||||||132|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_skin(42)|||||||BN000002|NM_014440.1|NP_055255.1|HGNC:15562|interleukin_%20_36_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|IL1F6|"interleukin_%20_1_%20_family_%2C__%20_member_%20_6_%20_(epsilon)"|FIL1_%2C__%20_FIL1E_%2C__%20_IL-1F6_%2C__%20_IL1(EPSILON)_%2C__%20_MGC129553_%2C__%20_MGC129552||2q14.1|2017-09-14|2011-06-06|2017-09-14|AF201831||27179|ENSG00000136694|10625660|NM_014440|601|Interleukins|CCDS42734|OTTHUMG00000153320|27179|605509|NM_014440|Q9UHA7|ENSG00000136694|uc010yxr.3|IL36A_HUMAN||B2RAD9_%7C_Q53SR7_%7C_Q5BLR4_%7C_Q7RTZ8|Q9UHA7|immune_%20_response_%20_(GO:0006955)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_positive_%20_regulation_%20_of_%20_interleukin-6_%20_production_%20_(GO:0032755)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|interleukin-1_%20_receptor_%20_binding_%20_(GO:0005149)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 135926351 exm229562 A G . PASS FUNCOTATION=[RAB3GAP1|hg19|chr2|135926351|135926351|NONSTOP||SNP|A|A|G|g.chr2:135926351A>G|ENST00000264158.8|+|24|2989|c.2946A>G|c.(2944-2946)tgA>tgG|p.*982W|0.5586034912718204|CCTTCTTCTGATTCTTCTAGC|RAB3GAP1_ENST00000442034.1_NONSTOP_p.*989W/RAB3GAP1_ENST00000539493.1_INTRON/RAB3GAP1_ENST00000487003.1_INTRON/ZRANB3_ENST00000412849.1_INTRON|||||||||||||||||||||||||99|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(7)|||||||D31886|NM_012233.2|NP_036365.1|HGNC:17063|RAB3_%20_GTPase_%20_activating_%20_protein_%20_catalytic_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"RAB3_%20_GTPase_%20_activating_%20_protein_%20_subunit_%20_1_%20_(catalytic)"|RAB3GAP_%2C__%20_KIAA0066_%2C__%20_RAB3GAP130_%2C__%20_WARBM1||2q21.3|2015-11-18||2015-11-18|D31886||22930|ENSG00000115839|9030515_%2C__%20_15696165|NM_012233|||CCDS33294_%2C__%20_CCDS54402|OTTHUMG00000154889|22930|602536|NM_001172435|Q15042|ENSG00000115839|uc002tuj.4|RB3GP_HUMAN||A6H8Z3_%7C_C9J837_%7C_Q659F5_%7C_Q8TBB4|Q15042|brain_%20_development_%20_(GO:0007420)_%7C_camera-type_%20_eye_%20_development_%20_(GO:0043010)_%7C_establishment_%20_of_%20_protein_%20_localization_%20_to_%20_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0097051)_%7C_face_%20_morphogenesis_%20_(GO:0060325)_%7C_hypothalamus_%20_development_%20_(GO:0021854)_%7C_lipid_%20_particle_%20_organization_%20_(GO:0034389)_%7C_positive_%20_regulation_%20_of_%20_endoplasmic_%20_reticulum_%20_tubular_%20_network_%20_organization_%20_(GO:1903373)_%7C_positive_%20_regulation_%20_of_%20_GTP_%20_catabolic_%20_process_%20_(GO:0033126)_%7C_positive_%20_regulation_%20_of_%20_Rab_%20_GTPase_%20_activity_%20_(GO:0032851)_%7C_regulation_%20_of_%20_calcium_%20_ion-dependent_%20_exocytosis_%20_of_%20_neurotransmitter_%20_(GO:1903233)_%7C_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:0060079)_%7C_regulation_%20_of_%20_GTPase_%20_activity_%20_(GO:0043087)_%7C_regulation_%20_of_%20_short-term_%20_neuronal_%20_synaptic_%20_plasticity_%20_(GO:0048172)|cytoplasm_%20_(GO:0005737)_%7C_endoplasmic_%20_reticulum_%20_tubular_%20_network_%20_(GO:0071782)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_protein_%20_complex_%20_(GO:0043234)|Rab_%20_GTPase_%20_activator_%20_activity_%20_(GO:0005097)_%7C_Rab_%20_GTPase_%20_binding_%20_(GO:0017137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 150294223 exm231995 A G . PASS FUNCOTATION=[LYPD6|hg19|chr2|150294223|150294223|START_CODON_SNP||SNP|A|A|G|g.chr2:150294223A>G|ENST00000334166.4|+|2|258|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5037406483790524|TCAGTCTGCCATGGAACCTGG|LYPD6_ENST00000409381.1_START_CODON_SNP_p.M1V|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471058|NM_194317.3|NP_919298.1|HGNC:28751|LY6/PLAUR_%20_domain_%20_containing_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC52057||2q23.2|2014-11-19|||BC047013||130574|ENSG00000187123|12477932|NM_194317|1226|LY6/PLAUR_%20_domain_%20_containing|CCDS2188|OTTHUMG00000131852|130574|613359|NM_001195685|Q86Y78|ENSG00000187123|uc021vqt.2|LYPD6_HUMAN||B3KWC0_%7C_Q4G121_%7C_Q53TR3_%7C_Q659B1|Q86Y78||extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 152511831 indel.63250 T TC . PASS FUNCOTATION=[NEB|hg19|chr2|152511831|152511832|FRAME_SHIFT_INS||INS|-|-|C|g.chr2:152511831_152511832insC|ENST00000604864.1|-|49|6760|c.6759_6760insG|c.(6760-6762)acafs|p.T2254fs|0.295|TATCTGGTGTATCAGGCATC|NEB_ENST00000603639.1_FRAME_SHIFT_INS_p.T2254fs/NEB_ENST00000409198.1_FRAME_SHIFT_INS_p.T2254fs/NEB_ENST00000427231.2_FRAME_SHIFT_INS_p.T2254fs/NEB_ENST00000397345.3_FRAME_SHIFT_INS_p.T2254fs/NEB_ENST00000172853.10_FRAME_SHIFT_INS_p.T2254fs|||||||||||||||||||||||||162|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(25)_%7C_kidney(1)_%7C_large_intestine(35)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||AC116650|||HGNC:7720|nebulin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|NEM2||NEB177D|"nemaline_%20_myopathy_%20_type_%20_2"|2q23.3|2017-03-24|||X83957||4703|ENSG00000183091|10051637_%2C__%20_9359044|NM_004543|||CCDS46424_%2C__%20_CCDS54407_%2C__%20_CCDS54408_%2C__%20_CCDS74588|OTTHUMG00000153784|4703|161650|NM_001164507|P20929|ENSG00000183091|uc031rpp.1|NEBU_HUMAN||F8WCL5_%7C_F8WCP0_%7C_Q15346_%7C_Q53QQ2_%7C_Q53TG8|P20929|muscle_%20_filament_%20_sliding_%20_(GO:0030049)_%7C_muscle_%20_organ_%20_development_%20_(GO:0007517)_%7C_regulation_%20_of_%20_actin_%20_filament_%20_length_%20_(GO:0030832)_%7C_somatic_%20_muscle_%20_development_%20_(GO:0007525)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Z_%20_disc_%20_(GO:0030018)|structural_%20_constituent_%20_of_%20_muscle_%20_(GO:0008307)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 167759994 exm238877 T C . PASS FUNCOTATION=[XIRP2|hg19|chr2|167759994|167759994|START_CODON_SNP||SNP|T|T|C|g.chr2:167759994T>C|ENST00000409728.1|+|2|91|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.45885286783042395|GACCCATCCATGTTCCCAATG|XIRP2_ENST00000409043.1_START_CODON_SNP_p.M1T/XIRP2_ENST00000409195.1_START_CODON_SNP_p.M1T/XIRP2_ENST00000420519.1_START_CODON_SNP_p.M1T/XIRP2_ENST00000409756.2_START_CODON_SNP_p.M1T/XIRP2_ENST00000295237.9_START_CODON_SNP_p.M1T|||||||||||||||||||||||||209|biliary_tract(4)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(104)_%7C_large_intestine(11)_%7C_lung(1)_%7C_oesophagus(12)_%7C_pancreas(22)|||||||EF119722|NM_001199143.1|NP_001186072.1|HGNC:14303|xin_%20_actin_%20_binding_%20_repeat_%20_containing_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CMYA3|"cardiomyopathy_%20_associated_%20_3"||"myomaxin"|2q24.3|2016-10-05|2007-06-27|2015-04-29|AK056582||129446|ENSG00000163092|17046827_%2C__%20_12203715_%2C__%20_15454575|NM_152381|1218|LIM_%20_domain_%20_containing|CCDS42768_%2C__%20_CCDS42769_%2C__%20_CCDS56143_%2C__%20_CCDS56144_%2C__%20_CCDS56145|OTTHUMG00000154027|129446|609778|NM_001079810|A4UGR9|ENSG00000163092|uc002udx.4|XIRP2_HUMAN||A0PJ94_%7C_B2BBS0_%7C_B2BBS1_%7C_B2BBS4_%7C_B3KVH0_%7C_J3KNB1_%7C_Q53R52_%7C_Q5MJ67_%7C_Q702N7_%7C_Q86T36_%7C_Q86T38_%7C_Q86T46_%7C_Q86T51_%7C_Q86T53_%7C_Q86T55_%7C_Q86T79_%7C_Q86TB6_%7C_Q8N1M9_%7C_Q8N3R5_%7C_Q8TBV6|A4UGR9|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_cardiac_%20_muscle_%20_tissue_%20_morphogenesis_%20_(GO:0055008)_%7C_cell-cell_%20_junction_%20_organization_%20_(GO:0045216)_%7C_ventricular_%20_septum_%20_development_%20_(GO:0003281)|cell_%20_junction_%20_(GO:0030054)_%7C_Z_%20_disc_%20_(GO:0030018)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 169727989 indel.63772 A AT . PASS FUNCOTATION=[SPC25|hg19|chr2|169727989|169727990|FRAME_SHIFT_INS||INS|-|-|T|g.chr2:169727989_169727990insT|ENST00000282074.2|-|7|769|c.626_627insA|c.(625-627)gctfs|p.L211fs|0.31|GGCAAGAAAAGCTGAAAAAT||||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR457197|NM_020675.3|NP_065726.1|HGNC:24031|SPC25_%2C__%20_NDC80_%20_kinetochore_%20_complex_%20_component|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SPBC25|"spindle_%20_pole_%20_body_%20_component_%20_25_%20_homolog_%20_(S._%20_cerevisiae)"_%2C__%20_"SPC25_%2C__%20_NDC80_%20_kinetochore_%20_complex_%20_component_%2C__%20_homolog_%20_(S._%20_cerevisiae)"|MGC22228_%2C__%20_AD024||2q31.1|2017-11-28|2007-03-02|2013-06-05|AF225416||57405|ENSG00000152253|15961401|NM_020675|1573|NDC80_%20_kinetochore_%20_complex_%20_|CCDS2229|OTTHUMG00000132181|57405|609395|NM_020675|Q9HBM1|ENSG00000152253|uc002uel.4|SPC25_HUMAN||A8K4X8_%7C_D3DPC0|Q9HBM1|chromosome_%20_segregation_%20_(GO:0007059)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_mitotic_%20_spindle_%20_organization_%20_(GO:0007052)|condensed_%20_chromosome_%20_kinetochore_%20_(GO:0000777)_%7C_cytosol_%20_(GO:0005829)_%7C_Ndc80_%20_complex_%20_(GO:0031262)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 169923213 kgp14846241 C T . PASS FUNCOTATION=[DHRS9|hg19|chr2|169923213|169923213|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr2:169923213C>T|ENST00000602501.1|+|2|||||0.38902743142144636|CACTTTTCAACGCAGGACCTC|DHRS9_ENST00000327239.4_DE_NOVO_START_IN_FRAME/DHRS9_ENST00000357546.2_FIVE_PRIME_FLANK/DHRS9_ENST00000421653.1_FIVE_PRIME_FLANK/DHRS9_ENST00000428522.1_FIVE_PRIME_FLANK/DHRS9_ENST00000432060.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471058|||HGNC:16888|dehydrogenase/reductase_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dehydrogenase/reductase_%20_(SDR_%20_family)_%20_member_%20_9"|RDHL_%2C__%20_3alpha-HSD_%2C__%20_RETSDR8_%2C__%20_RDH15_%2C__%20_SDR9C4|"NADP-dependent_%20_retinol_%20_dehydrogenase/reductase"_%2C__%20_"3-alpha_%20_hydroxysteroid_%20_dehydrogenase"_%2C__%20_"retinol_%20_dehydrogenase_%20_homolog"_%2C__%20_"short_%20_chain_%20_dehydrogenase/reductase_%20_family_%20_9C_%2C__%20_member_%20_4"|2q31.1|2016-05-27||2016-05-27|AF067174||10170|ENSG00000073737|11304534_%2C__%20_11294878_%2C__%20_19027726|NM_005771|743|Short_%20_chain_%20_dehydrogenase/reductase_%20_superfamily|CCDS2231_%2C__%20_CCDS74600|OTTHUMG00000132180|10170|612131|NM_001142270|Q9BPW9|ENSG00000073737|uc061phg.1|DHRS9_HUMAN||B7Z416_%7C_D3DPC1_%7C_Q5RKX1_%7C_Q9NRA9_%7C_Q9NRB0|Q9BPW9|9-cis-retinoic_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0042904)_%7C_androgen_%20_metabolic_%20_process_%20_(GO:0008209)_%7C_epithelial_%20_cell_%20_differentiation_%20_(GO:0030855)_%7C_progesterone_%20_metabolic_%20_process_%20_(GO:0042448)_%7C_retinol_%20_metabolic_%20_process_%20_(GO:0042572)|integral_%20_component_%20_of_%20_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0030176)|alcohol_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004022)_%7C_racemase_%20_and_%20_epimerase_%20_activity_%20_(GO:0016854)_%7C_retinol_%20_dehydrogenase_%20_activity_%20_(GO:0004745)_%7C_testosterone_%20_dehydrogenase_%20_(NAD+)_%20_activity_%20_(GO:0047035)||||true|false|0.9796_%2C_._%2C_0.02037|false|false|1||false|true|false|DHRS9:10170|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|16856426|169923213|false|false|0|true|0|false|0.997733_%2C_._%2C_0.00226664|false|false|true|SNV|true|0x050100420005150436000100|1|false|123|rs16856426|] +2 169926086 rs11889286 C T . PASS FUNCOTATION=[DHRS9|hg19|chr2|169926086|169926086|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr2:169926086C>T|ENST00000357546.2|+|2|||||0.4239401496259352|CAGAGCTCTACGGAAACCCAG|DHRS9_ENST00000428522.1_DE_NOVO_START_OUT_FRAME/DHRS9_ENST00000327239.4_INTRON/DHRS9_ENST00000602501.1_INTRON/DHRS9_ENST00000421653.1_DE_NOVO_START_OUT_FRAME/DHRS9_ENST00000432060.2_INTRON/DHRS9_ENST00000436483.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471058|NM_199204.1|NP_954674.1|HGNC:16888|dehydrogenase/reductase_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dehydrogenase/reductase_%20_(SDR_%20_family)_%20_member_%20_9"|RDHL_%2C__%20_3alpha-HSD_%2C__%20_RETSDR8_%2C__%20_RDH15_%2C__%20_SDR9C4|"NADP-dependent_%20_retinol_%20_dehydrogenase/reductase"_%2C__%20_"3-alpha_%20_hydroxysteroid_%20_dehydrogenase"_%2C__%20_"retinol_%20_dehydrogenase_%20_homolog"_%2C__%20_"short_%20_chain_%20_dehydrogenase/reductase_%20_family_%20_9C_%2C__%20_member_%20_4"|2q31.1|2016-05-27||2016-05-27|AF067174||10170|ENSG00000073737|11304534_%2C__%20_11294878_%2C__%20_19027726|NM_005771|743|Short_%20_chain_%20_dehydrogenase/reductase_%20_superfamily|CCDS2231_%2C__%20_CCDS74600|OTTHUMG00000132180|10170|612131|NM_001142270|Q9BPW9|ENSG00000073737|uc061phg.1|DHRS9_HUMAN||B7Z416_%7C_D3DPC1_%7C_Q5RKX1_%7C_Q9NRA9_%7C_Q9NRB0|Q9BPW9|9-cis-retinoic_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0042904)_%7C_androgen_%20_metabolic_%20_process_%20_(GO:0008209)_%7C_epithelial_%20_cell_%20_differentiation_%20_(GO:0030855)_%7C_progesterone_%20_metabolic_%20_process_%20_(GO:0042448)_%7C_retinol_%20_metabolic_%20_process_%20_(GO:0042572)|integral_%20_component_%20_of_%20_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0030176)|alcohol_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004022)_%7C_racemase_%20_and_%20_epimerase_%20_activity_%20_(GO:0016854)_%7C_retinol_%20_dehydrogenase_%20_activity_%20_(GO:0004745)_%7C_testosterone_%20_dehydrogenase_%20_(NAD+)_%20_activity_%20_(GO:0047035)||||true|false|0.9786_%2C_0.02137|false|false|1||false|true|false|DHRS9:10170|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11889286|169926086|false|false|0|true|0|false|0.971118_%2C_0.0288825|false|false|true|SNV|true|0x05010048000515053f000100|1|false|120|rs11889286|] +2 175614897 indel.64033 C CT . PASS FUNCOTATION=[CHRNA1|hg19|chr2|175614897|175614898|SPLICE_SITE|FRAME_SHIFT_INS|INS|-|-|T|g.chr2:175614897_175614898insT|ENST00000409219.1|-|7|797|c.778_779insA|c.(778-780)gggfs|p.G260fs|0.4625|ATCTTCTCCCCTGAAAAGAC|CHRNA1_ENST00000348749.5_SPLICE_SITE_p.G260fs/CHRNA1_ENST00000261007.5_SPLICE_SITE_p.G285fs/CHRNA1_ENST00000409542.1_SPLICE_SITE_p.G178fs/AC018890.6_ENST00000442996.1_RNA|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||AC018890|||HGNC:1955|cholinergic_%20_receptor_%20_nicotinic_%20_alpha_%20_1_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CHRNA|"cholinergic_%20_receptor_%2C__%20_nicotinic_%2C__%20_alpha_%20_polypeptide_%20_1_%20_(muscle)"_%2C__%20_"cholinergic_%20_receptor_%2C__%20_nicotinic_%2C__%20_alpha_%20_1_%20_(muscle)"_%2C__%20_"cholinergic_%20_receptor_%2C__%20_nicotinic_%20_alpha_%20_1"||"acetylcholine_%20_receptor_%2C__%20_nicotinic_%2C__%20_alpha_%20_1_%20_(muscle)"|2q31.1|2016-02-04||2016-02-04|Y00762||1134|ENSG00000138435|||173|Cholinergic_%20_receptors_%20_nicotinic_%20_subunits|CCDS2261_%2C__%20_CCDS33331|OTTHUMG00000132357|1134|100690|NM_000079|P02708|ENSG00000138435|uc002uje.3|ACHA_HUMAN|Galantamine(DB00674)|B4DRV6_%7C_D3DPE8|P02708|cation_%20_transmembrane_%20_transport_%20_(GO:0098655)_%7C_cation_%20_transport_%20_(GO:0006812)_%7C_ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_muscle_%20_cell_%20_cellular_%20_homeostasis_%20_(GO:0046716)_%7C_musculoskeletal_%20_movement_%20_(GO:0050881)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neuromuscular_%20_process_%20_(GO:0050905)_%7C_neuromuscular_%20_synaptic_%20_transmission_%20_(GO:0007274)_%7C_neuron_%20_cellular_%20_homeostasis_%20_(GO:0070050)_%7C_neuronal_%20_action_%20_potential_%20_(GO:0019228)_%7C_regulation_%20_of_%20_membrane_%20_potential_%20_(GO:0042391)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_skeletal_%20_muscle_%20_contraction_%20_(GO:0003009)_%7C_skeletal_%20_muscle_%20_tissue_%20_growth_%20_(GO:0048630)_%7C_synaptic_%20_transmission_%20_(GO:0007268)_%7C_transport_%20_(GO:0006810)|acetylcholine-gated_%20_channel_%20_complex_%20_(GO:0005892)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_neuromuscular_%20_junction_%20_(GO:0031594)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|acetylcholine_%20_binding_%20_(GO:0042166)_%7C_acetylcholine_%20_receptor_%20_activity_%20_(GO:0015464)_%7C_acetylcholine-activated_%20_cation-selective_%20_channel_%20_activity_%20_(GO:0004889)_%7C_ion_%20_channel_%20_activity_%20_(GO:0005216)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 175629122 exm243337 T C . PASS FUNCOTATION=[CHRNA1|hg19|chr2|175629122|175629122|START_CODON_SNP||SNP|T|T|C|g.chr2:175629122T>C|ENST00000409219.1|-|1|19|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5760598503740648|CAGGGCTCCATGGGCTACCGG|CHRNA1_ENST00000348749.5_START_CODON_SNP_p.M1V/CHRNA1_ENST00000261007.5_START_CODON_SNP_p.M1V/CHRNA1_ENST00000409323.1_START_CODON_SNP_p.M1V/CHRNA1_ENST00000409542.1_START_CODON_SNP_p.M1V/AC018890.6_ENST00000442996.1_RNA|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||AC018890|||HGNC:1955|cholinergic_%20_receptor_%20_nicotinic_%20_alpha_%20_1_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CHRNA|"cholinergic_%20_receptor_%2C__%20_nicotinic_%2C__%20_alpha_%20_polypeptide_%20_1_%20_(muscle)"_%2C__%20_"cholinergic_%20_receptor_%2C__%20_nicotinic_%2C__%20_alpha_%20_1_%20_(muscle)"_%2C__%20_"cholinergic_%20_receptor_%2C__%20_nicotinic_%20_alpha_%20_1"||"acetylcholine_%20_receptor_%2C__%20_nicotinic_%2C__%20_alpha_%20_1_%20_(muscle)"|2q31.1|2016-02-04||2016-02-04|Y00762||1134|ENSG00000138435|||173|Cholinergic_%20_receptors_%20_nicotinic_%20_subunits|CCDS2261_%2C__%20_CCDS33331|OTTHUMG00000132357|1134|100690|NM_000079|P02708|ENSG00000138435|uc002uje.3|ACHA_HUMAN|Galantamine(DB00674)|B4DRV6_%7C_D3DPE8|P02708|cation_%20_transmembrane_%20_transport_%20_(GO:0098655)_%7C_cation_%20_transport_%20_(GO:0006812)_%7C_ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_muscle_%20_cell_%20_cellular_%20_homeostasis_%20_(GO:0046716)_%7C_musculoskeletal_%20_movement_%20_(GO:0050881)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neuromuscular_%20_process_%20_(GO:0050905)_%7C_neuromuscular_%20_synaptic_%20_transmission_%20_(GO:0007274)_%7C_neuron_%20_cellular_%20_homeostasis_%20_(GO:0070050)_%7C_neuronal_%20_action_%20_potential_%20_(GO:0019228)_%7C_regulation_%20_of_%20_membrane_%20_potential_%20_(GO:0042391)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_skeletal_%20_muscle_%20_contraction_%20_(GO:0003009)_%7C_skeletal_%20_muscle_%20_tissue_%20_growth_%20_(GO:0048630)_%7C_synaptic_%20_transmission_%20_(GO:0007268)_%7C_transport_%20_(GO:0006810)|acetylcholine-gated_%20_channel_%20_complex_%20_(GO:0005892)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_neuromuscular_%20_junction_%20_(GO:0031594)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|acetylcholine_%20_binding_%20_(GO:0042166)_%7C_acetylcholine_%20_receptor_%20_activity_%20_(GO:0015464)_%7C_acetylcholine-activated_%20_cation-selective_%20_channel_%20_activity_%20_(GO:0004889)_%7C_ion_%20_channel_%20_activity_%20_(GO:0005216)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 178415667 indel.64070 T TC . PASS FUNCOTATION=[TTC30B|hg19|chr2|178415667|178415668|FRAME_SHIFT_INS||INS|-|-|C|g.chr2:178415667_178415668insC|ENST00000408939.3|-|1|2076|c.1824_1825insG|c.(1825-1827)attfs|p.I609fs|0.365|ATTCTTGAATAACACTATCA||||||||||||||||||||||||||88|kidney(88)|||||||CH471058|NM_152517.2|NP_689730.2|HGNC:26425|tetratricopeptide_%20_repeat_%20_domain_%20_30B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ30990_%2C__%20_fleer_%2C__%20_IFT70B||2q31.2|2015-08-26|||AK055552||150737|ENSG00000196659|12477932|NM_152517|615_%7C_769|Intraflagellar_%20_transport_%20_proteins_%7C_Tetratricopeptide_%20_repeat_%20_domain_%20_containing|CCDS42784|OTTHUMG00000154166|150737||NM_152517|Q8N4P2|ENSG00000196659|uc002uln.4|TT30B_HUMAN||Q63HQ1_%7C_Q96NE6|Q8N4P2|cilium_%20_assembly_%20_(GO:0042384)_%7C_intraciliary_%20_transport_%20_(GO:0042073)|cilium_%20_(GO:0005929)_%7C_intraciliary_%20_transport_%20_particle_%20_B_%20_(GO:0030992)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 187487140 indel.64390 A ACCT . PASS FUNCOTATION=[ITGAV|hg19|chr2|187487140|187487141|IN_FRAME_INS||INS|-|-|CCT|g.chr2:187487140_187487141insCCT|ENST00000261023.3|+|3|665|c.391_392insCCT|c.(391-393)aaa>aCCTaa|p.K131T*|0.3675|GTGAGGTCGAAACAGGATAA|ITGAV_ENST00000374907.3_IN_FRAME_INS_p.K131T*/ITGAV_ENST00000433736.2_IN_FRAME_INS_p.K85T*|Melanoma(58_%3B_108_%20_1995_%20_6081)||||||||||||||||||||||||274|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(12)_%7C_lung(2)_%7C_pancreas(22)_%7C_soft_tissue(1)|||||||U07375|NM_002210.4|NP_002201.1|HGNC:6150|integrin_%20_subunit_%20_alpha_%20_V|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|VNRA_%2C__%20_MSK8_%2C__%20_VTNR|"antigen_%20_identified_%20_by_%20_monoclonal_%20_antibody_%20_L230"_%2C__%20_"vitronectin_%20_receptor"_%2C__%20_"integrin_%2C__%20_alpha_%20_V_%20_(vitronectin_%20_receptor_%2C__%20_alpha_%20_polypeptide_%2C__%20_antigen_%20_CD51)"_%2C__%20_"integrin_%2C__%20_alpha_%20_V"|CD51||2q32.1|2016-10-05||2015-12-15|||3685|ENSG00000138448|2454952|NM_002210|1160_%7C_471|Integrin_%20_alpha_%20_subunits_%7C_CD_%20_molecules|CCDS2292_%2C__%20_CCDS46470_%2C__%20_CCDS46471|OTTHUMG00000132635|3685|193210|NM_001144999|P06756|ENSG00000138448|uc002upq.5|ITAV_HUMAN|Antithymocyte_%20_globulin(DB00098)|A0AV67_%7C_B0LPF4_%7C_B7Z883_%7C_B7ZLX0_%7C_D3DPG8_%7C_E7EWZ6_%7C_Q53SK4_%7C_Q59EB7_%7C_Q6LD15|P06756|angiogenesis_%20_(GO:0001525)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_(GO:0042590)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%2C__%20_TAP-dependent_%20_(GO:0002479)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_(GO:0002474)_%7C_apolipoprotein_%20_A-I-mediated_%20_signaling_%20_pathway_%20_(GO:0038027)_%7C_apoptotic_%20_cell_%20_clearance_%20_(GO:0043277)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_calcium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0070588)_%7C_cell_%20_adhesion_%20_(GO:0007155)_%7C_cell_%20_growth_%20_(GO:0016049)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_cell-matrix_%20_adhesion_%20_(GO:0007160)_%7C_cell-substrate_%20_adhesion_%20_(GO:0031589)_%7C_endodermal_%20_cell_%20_differentiation_%20_(GO:0035987)_%7C_entry_%20_of_%20_symbiont_%20_into_%20_host_%20_cell_%20_by_%20_promotion_%20_of_%20_host_%20_phagocytosis_%20_(GO:0052066)_%7C_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070371)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_absence_%20_of_%20_ligand_%20_(GO:0097192)_%7C_heterotypic_%20_cell-cell_%20_adhesion_%20_(GO:0034113)_%7C_integrin-mediated_%20_signaling_%20_pathway_%20_(GO:0007229)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_chemotaxis_%20_(GO:0050919)_%7C_negative_%20_regulation_%20_of_%20_entry_%20_of_%20_bacterium_%20_into_%20_host_%20_cell_%20_(GO:2000536)_%7C_negative_%20_regulation_%20_of_%20_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001237)_%7C_negative_%20_regulation_%20_of_%20_lipid_%20_storage_%20_(GO:0010888)_%7C_negative_%20_regulation_%20_of_%20_lipid_%20_transport_%20_(GO:0032369)_%7C_negative_%20_regulation_%20_of_%20_lipoprotein_%20_metabolic_%20_process_%20_(GO:0050748)_%7C_negative_%20_regulation_%20_of_%20_low-density_%20_lipoprotein_%20_particle_%20_receptor_%20_biosynthetic_%20_process_%20_(GO:0045715)_%7C_negative_%20_regulation_%20_of_%20_macrophage_%20_derived_%20_foam_%20_cell_%20_differentiation_%20_(GO:0010745)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_adhesion_%20_(GO:0045785)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_migration_%20_(GO:0030335)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_osteoblast_%20_proliferation_%20_(GO:0033690)_%7C_regulation_%20_of_%20_apoptotic_%20_cell_%20_clearance_%20_(GO:2000425)_%7C_regulation_%20_of_%20_phagocytosis_%20_(GO:0050764)_%7C_substrate_%20_adhesion-dependent_%20_cell_%20_spreading_%20_(GO:0034446)_%7C_viral_%20_entry_%20_into_%20_host_%20_cell_%20_(GO:0046718)|alphav-beta3_%20_integrin-IGF-1-IGF1R_%20_complex_%20_(GO:0035867)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_filopodium_%20_membrane_%20_(GO:0031527)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_integrin_%20_alphav-beta3_%20_complex_%20_(GO:0034683)_%7C_integrin_%20_alphav-beta5_%20_complex_%20_(GO:0034684)_%7C_integrin_%20_alphav-beta8_%20_complex_%20_(GO:0034686)_%7C_integrin_%20_complex_%20_(GO:0008305)_%7C_lamellipodium_%20_membrane_%20_(GO:0031258)_%7C_membrane_%20_(GO:0016020)_%7C_microvillus_%20_membrane_%20_(GO:0031528)_%7C_phagocytic_%20_vesicle_%20_(GO:0045335)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_ruffle_%20_membrane_%20_(GO:0032587)|extracellular_%20_matrix_%20_binding_%20_(GO:0050840)_%7C_extracellular_%20_matrix_%20_protein_%20_binding_%20_(GO:1990430)_%7C_fibronectin_%20_binding_%20_(GO:0001968)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_protease_%20_binding_%20_(GO:0002020)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_binding_%20_(GO:0050431)_%7C_virus_%20_receptor_%20_activity_%20_(GO:0001618)_%7C_voltage-gated_%20_calcium_%20_channel_%20_activity_%20_(GO:0005245)||||true|false||false|false|||false|false|false|ITGAV:3685|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|762770151|187487140|false|false|0|false|0|false||false|false|false|DIV|false|0x050000000005000402000200|1|false|144|rs762770151|] +2 187692863 indel.64404 T TA . PASS FUNCOTATION=[ZSWIM2|hg19|chr2|187692863|187692864|FRAME_SHIFT_INS||INS|-|-|A|g.chr2:187692863_187692864insA|ENST00000295131.2|-|9|1790|c.1749_1750insT|c.(1750-1752)agcfs|p.S584fs|0.345|TAGCTGTGCTCCAATTGACA||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471058|NM_182521.2|NP_872327.2|HGNC:30990|zinc_%20_finger_%20_SWIM-type_%20_containing_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC33890_%2C__%20_ZZZ2_%2C__%20_MEX||2q32.1|2017-11-28||2016-02-15|AK128006||151112|ENSG00000163012|16522193|NM_182521|91_%7C_90|Zinc_%20_fingers_%20_ZZ-type_%7C_Zinc_%20_fingers_%20_SWIM-type|CCDS33348|OTTHUMG00000154259|151112||NM_182521|Q8NEG5|ENSG00000163012|uc002upu.2|ZSWM2_HUMAN||B3KXV6_%7C_Q53SI3_%7C_Q57ZY3|Q8NEG5|apoptotic_%20_process_%20_(GO:0006915)_%7C_positive_%20_regulation_%20_of_%20_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_via_%20_death_%20_domain_%20_receptors_%20_(GO:1902043)_%7C_protein_%20_polyubiquitination_%20_(GO:0000209)||ligase_%20_activity_%20_(GO:0016874)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 191184475 exm253061 A G . PASS FUNCOTATION=[HIBCH|hg19|chr2|191184475|191184475|START_CODON_SNP||SNP|A|A|G|g.chr2:191184475A>G|ENST00000359678.5|-|1|297|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6633416458852868|GCGCTGCCCCATCGCCAAACA|HIBCH_ENST00000392332.3_START_CODON_SNP_p.M1T|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U66669|NM_198047.2|NP_932164.1|HGNC:4908|3-hydroxyisobutyryl-CoA_%20_hydrolase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"3-hydroxyisobutyryl-Coenzyme_%20_A_%20_hydrolase"|||2q32.2|2016-10-05||2010-04-29|U66669|3.1.2.4|26275|ENSG00000198130|8824301||||CCDS2304_%2C__%20_CCDS46475|OTTHUMG00000132673|26275|610690|NM_014362|Q6NVY1|ENSG00000198130|uc002uru.3|HIBCH_HUMAN||D3DPI4_%7C_Q53GA8_%7C_Q53GF2_%7C_Q53RF7_%7C_Q53TC6_%7C_Q92931_%7C_Q9BS94|Q6NVY1|branched-chain_%20_amino_%20_acid_%20_catabolic_%20_process_%20_(GO:0009083)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_valine_%20_catabolic_%20_process_%20_(GO:0006574)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)|3-hydroxyisobutyryl-CoA_%20_hydrolase_%20_activity_%20_(GO:0003860)||||true|false|0.5683_%2C_0.4317|false|false|1||false|true|true|HIBCH:26275|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|291466|191184475|false|false|0|true|0|false|0.490041_%2C_0.509959|false|false|false|SNV|true|0x050100000a0517053f000101|1|false|79|rs291466|] +2 197208381 exm254675 G A . PASS FUNCOTATION=[HECW2|hg19|chr2|197208381|197208381|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr2:197208381G>A|ENST00000409111.1|-|2|||||0.3117206982543641|AGTTACTTACGTTCCATGAAA|HECW2_ENST00000260983.3_SPLICE_SITE_p.P134S|||||||||||||||||||||||||706|biliary_tract(2)_%7C_breast(186)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(137)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||CR749424|||HGNC:29853|HECT_%2C__%20_C2_%20_and_%20_WW_%20_domain_%20_containing_%20_E3_%20_ubiquitin_%20_protein_%20_ligase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA1301_%2C__%20_NEDL2||2q32.3|2015-08-25|||AL390186||57520|ENSG00000138411|10718198_%2C__%20_12890487|NM_020760|823|C2_%20_domain_%20_containing|CCDS33354_%2C__%20_CCDS77499|OTTHUMG00000154435|57520|617245|NM_001304840|Q9P2P5|ENSG00000138411|uc002utm.2|HECW2_HUMAN||B8ZZB4_%7C_Q17RT5_%7C_Q68DF8_%7C_Q9NPS9|Q9P2P5|protein_%20_ubiquitination_%20_involved_%20_in_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0042787)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ligase_%20_activity_%20_(GO:0016874)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 202122956 exm256838 T C . PASS FUNCOTATION=[CASP8|hg19|chr2|202122956|202122956|START_CODON_SNP||SNP|T|T|C|g.chr2:202122956T>C|ENST00000358485.4|+|1|198|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.4937655860349127|AGTGAGGCCATGGAGGGAGGC|CASP8_ENST00000264275.5_INTRON/CASP8_ENST00000432109.2_INTRON/CASP8_ENST00000392258.3_INTRON/CASP8_ENST00000392259.2_INTRON/CASP8_ENST00000392266.3_INTRON/CASP8_ENST00000264274.9_INTRON/CASP8_ENST00000323492.7_FIVE_PRIME_FLANK|Melanoma(82_%3B_831_%20_1348_%20_20716_%20_36952_%20_40159)||||||||||||||||||||||||2880|NS(200)_%7C_autonomic_ganglia(109)_%7C_biliary_tract(27)_%7C_bone(27)_%7C_breast(314)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(129)_%7C_kidney(92)_%7C_large_intestine(455)_%7C_liver(70)_%7C_lung(320)_%7C_ovary(60)_%7C_pancreas(30)_%7C_prostate(270)_%7C_salivary_gland(164)_%7C_soft_tissue(61)_%7C_stomach(263)_%7C_thyroid(18)_%7C_upper_aerodigestive_tract(226)_%7C_vulva(1)|||||||X98178|NM_001080125.1|NP_001073594.1|HGNC:1509|caspase_%20_8|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"caspase_%20_8_%2C__%20_apoptosis-related_%20_cysteine_%20_protease"_%2C__%20_"caspase_%20_8_%2C__%20_apoptosis-related_%20_cysteine_%20_peptidase"|MCH5_%2C__%20_MACH_%2C__%20_FLICE_%2C__%20_Casp-8||2q33.1|2017-03-24||2015-11-12|U60520|3.4.22.61|841|ENSG00000064012|8681376_%2C__%20_8681377|NM_001228|468_%7C_1019_%7C_1340_%7C_1342|Caspases_%7C_Death_%20_effector_%20_domain_%20_containing_%7C_Ripoptosome_%7C_Death_%20_inducing_%20_signaling_%20_complex_%20_|CCDS2342_%2C__%20_CCDS2343_%2C__%20_CCDS2345_%2C__%20_CCDS42798_%2C__%20_CCDS42799|OTTHUMG00000132821|841|601763|NM_001080124|Q14790|ENSG00000064012|uc002uxt.2|CASP8_HUMAN||O14676_%7C_Q14791_%7C_Q14792_%7C_Q14793_%7C_Q14794_%7C_Q14795_%7C_Q14796_%7C_Q15780_%7C_Q15806_%7C_Q53TT5_%7C_Q8TDI1_%7C_Q8TDI2_%7C_Q8TDI3_%7C_Q8TDI4_%7C_Q8TDI5_%7C_Q96T22_%7C_Q9C0K4_%7C_Q9UQ81|Q14790|activation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_(GO:0097202)_%7C_activation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_(GO:0006919)_%7C_angiogenesis_%20_(GO:0001525)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097190)_%7C_B_%20_cell_%20_activation_%20_(GO:0042113)_%7C_cellular_%20_component_%20_disassembly_%20_involved_%20_in_%20_execution_%20_phase_%20_of_%20_apoptosis_%20_(GO:0006921)_%7C_cellular_%20_response_%20_to_%20_mechanical_%20_stimulus_%20_(GO:0071260)_%7C_cellular_%20_response_%20_to_%20_organic_%20_cyclic_%20_compound_%20_(GO:0071407)_%7C_execution_%20_phase_%20_of_%20_apoptosis_%20_(GO:0097194)_%7C_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097191)_%7C_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_via_%20_death_%20_domain_%20_receptors_%20_(GO:0008625)_%7C_heart_%20_development_%20_(GO:0007507)_%7C_hepatocyte_%20_apoptotic_%20_process_%20_(GO:0097284)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097193)_%7C_macrophage_%20_differentiation_%20_(GO:0030225)_%7C_MyD88-independent_%20_toll-like_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0002756)_%7C_natural_%20_killer_%20_cell_%20_activation_%20_(GO:0030101)_%7C_negative_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043124)_%7C_negative_%20_regulation_%20_of_%20_necroptotic_%20_process_%20_(GO:0060546)_%7C_neural_%20_tube_%20_formation_%20_(GO:0001841)_%7C_nucleotide-binding_%20_domain_%2C__%20_leucine_%20_rich_%20_repeat_%20_containing_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0035872)_%7C_nucleotide-binding_%20_oligomerization_%20_domain_%20_containing_%20_signaling_%20_pathway_%20_(GO:0070423)_%7C_positive_%20_regulation_%20_of_%20_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001238)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_positive_%20_regulation_%20_of_%20_macrophage_%20_differentiation_%20_(GO:0045651)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_insertion_%20_into_%20_mitochondrial_%20_membrane_%20_involved_%20_in_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1900740)_%7C_positive_%20_regulation_%20_of_%20_proteolysis_%20_(GO:0045862)_%7C_protein_%20_heterooligomerization_%20_(GO:0051291)_%7C_proteolysis_%20_(GO:0006508)_%7C_proteolysis_%20_involved_%20_in_%20_cellular_%20_protein_%20_catabolic_%20_process_%20_(GO:0051603)_%7C_regulation_%20_of_%20_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_absence_%20_of_%20_ligand_%20_(GO:2001239)_%7C_regulation_%20_of_%20_thymocyte_%20_apoptotic_%20_process_%20_(GO:0070243)_%7C_response_%20_to_%20_antibiotic_%20_(GO:0046677)_%7C_response_%20_to_%20_cobalt_%20_ion_%20_(GO:0032025)_%7C_response_%20_to_%20_cold_%20_(GO:0009409)_%7C_response_%20_to_%20_estradiol_%20_(GO:0032355)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)_%7C_response_%20_to_%20_tumor_%20_necrosis_%20_factor_%20_(GO:0034612)_%7C_syncytiotrophoblast_%20_cell_%20_differentiation_%20_involved_%20_in_%20_labyrinthine_%20_layer_%20_development_%20_(GO:0060715)_%7C_T_%20_cell_%20_activation_%20_(GO:0042110)_%7C_toll-like_%20_receptor_%20_3_%20_signaling_%20_pathway_%20_(GO:0034138)_%7C_toll-like_%20_receptor_%20_4_%20_signaling_%20_pathway_%20_(GO:0034142)_%7C_toll-like_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0002224)_%7C_TRAIL-activated_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:0036462)_%7C_TRIF-dependent_%20_toll-like_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0035666)_%7C_viral_%20_process_%20_(GO:0016032)|CD95_%20_death-inducing_%20_signaling_%20_complex_%20_(GO:0031265)_%7C_cell_%20_body_%20_(GO:0044297)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_cytosol_%20_(GO:0005829)_%7C_death-inducing_%20_signaling_%20_complex_%20_(GO:0031264)_%7C_membrane_%20_raft_%20_(GO:0045121)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)_%7C_mitochondrial_%20_outer_%20_membrane_%20_(GO:0005741)_%7C_mitochondrion_%20_(GO:0005739)_%7C_neuron_%20_projection_%20_(GO:0043005)_%7C_Noc1p-Noc2p_%20_complex_%20_(GO:0030690)_%7C_nucleus_%20_(GO:0005634)_%7C_ripoptosome_%20_(GO:0097342)|cysteine-type_%20_endopeptidase_%20_activity_%20_(GO:0004197)_%7C_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_(GO:0097153)_%7C_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097199)_%7C_cysteine-type_%20_peptidase_%20_activity_%20_(GO:0008234)_%7C_death_%20_effector_%20_domain_%20_binding_%20_(GO:0035877)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_scaffold_%20_protein_%20_binding_%20_(GO:0097110)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 209358383 exm261124 G T . PASS FUNCOTATION=[PTH2R|hg19|chr2|209358383|209358383|NONSTOP||SNP|G|G|T|g.chr2:209358383G>T|ENST00000272847.2|+|13|1865|c.1652G>T|c.(1651-1653)tGa>tTa|p.*551L|0.4538653366583541|GATGTTCTCTGAATGGACATT|AC019185.4_ENST00000424628.1_RNA/PTH2R_ENST00000413482.1_INTRON|||||||||||||||||||||||||501|biliary_tract(2)_%7C_breast(174)_%7C_central_nervous_system(44)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||U47124|NM_005048.3|NP_005039.1|HGNC:9609|parathyroid_%20_hormone_%20_2_%20_receptor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PTHR2|"parathyroid_%20_hormone_%20_receptor_%20_2"|||2q34|2016-10-05|2007-08-24|2007-08-24|BC036811||5746|ENSG00000144407||NM_005048|270|Parathyroid_%20_hormone_%20_receptors|CCDS2383_%2C__%20_CCDS82565|OTTHUMG00000132960|5746|601469|NM_001309516|P49190|ENSG00000144407|uc002vdb.5|PTH2R_HUMAN|Preotact(DB05829)|Q8N429|P49190|G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_plasma_%20_membrane_%20_(GO:0005886)|parathyroid_%20_hormone_%20_receptor_%20_activity_%20_(GO:0004991)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 216946463 exm263596 A G . PASS FUNCOTATION=[PECR|hg19|chr2|216946463|216946463|START_CODON_SNP||SNP|A|A|G|g.chr2:216946463A>G|ENST00000265322.7|-|1|77|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.713216957605985|CCAGGAGGCCATCCCTGCAGC|TMEM169_ENST00000295658.4_FIVE_PRIME_FLANK/TMEM169_ENST00000406027.2_FIVE_PRIME_FLANK/TMEM169_ENST00000437356.2_FIVE_PRIME_FLANK/TMEM169_ENST00000454545.1_FIVE_PRIME_FLANK/PECR_ENST00000497889.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR457145|NM_018441.5|NP_060911.2|HGNC:18281|peroxisomal_%20_trans-2-enoyl-CoA_%20_reductase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||HSA250303_%2C__%20_TERP_%2C__%20_SDR29C1|"short_%20_chain_%20_dehydrogenase/reductase_%20_family_%20_29C_%2C__%20_member_%20_1"|2q35|2014-11-19|||AF119841|1.3.1.38|55825|ENSG00000115425|10811639_%2C__%20_11669066_%2C__%20_19027726|NM_018441|743|Short_%20_chain_%20_dehydrogenase/reductase_%20_superfamily|CCDS33375|OTTHUMG00000154825|55825|605843|NM_018441|Q9BY49|ENSG00000115425|uc002vft.4|PECR_HUMAN|Adenine(DB00173)|B2RE42_%7C_Q53TC4_%7C_Q6IAK9_%7C_Q9NRD4_%7C_Q9NY60_%7C_Q9P1A4|Q9BY49|fatty_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0006633)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_phytol_%20_metabolic_%20_process_%20_(GO:0033306)|intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_mitochondrion_%20_(GO:0005739)_%7C_peroxisomal_%20_membrane_%20_(GO:0005778)_%7C_peroxisome_%20_(GO:0005777)|receptor_%20_binding_%20_(GO:0005102)_%7C_trans-2-enoyl-CoA_%20_reductase_%20_(NADPH)_%20_activity_%20_(GO:0019166)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 219029932 exm264611 C T . PASS FUNCOTATION=[CXCR1|hg19|chr2|219029932|219029932|START_CODON_SNP||SNP|C|C|T|g.chr2:219029932C>T|ENST00000295683.2|-|2|124|c.3G>A|c.(1-3)atG>atA|p.M1I|0.456359102244389|TAATATTTGACATGTCCTCTT||||||||||||||||||||||||||616|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(136)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||X65858|NM_000634.2|NP_000625.1|HGNC:6026|C-X-C_%20_motif_%20_chemokine_%20_receptor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CMKAR1_%2C__%20_IL8RA|"interleukin_%20_8_%20_receptor_%2C__%20_alpha"_%2C__%20_"chemokine_%20_(C-X-C_%20_motif)_%20_receptor_%20_1"|CKR-1_%2C__%20_CDw128a_%2C__%20_CD181||2q35|2016-03-14|2009-11-25|2016-03-14|U11870||3577|ENSG00000163464|1303245_%2C__%20_1427896|NM_000634|471_%7C_1094_%7C_602|CD_%20_molecules_%7C_C-X-C_%20_motif_%20_chemokine_%20_receptors_%7C_Interleukin_%20_receptors|CCDS2409|OTTHUMG00000133108|3577|146929|NM_000634|P25024|ENSG00000163464|uc002vhc.4|CXCR1_HUMAN|Ketoprofen(DB01009)|B2R6Q3_%7C_Q2YEF8_%7C_Q2YEG4_%7C_Q2YEG5_%7C_Q2YEG7_%7C_Q2YEG8_%7C_Q53R18_%7C_Q6IN95_%7C_Q8N6T6_%7C_Q9P2T8_%7C_Q9P2T9_%7C_Q9P2U0_%7C_Q9P2U1_%7C_Q9P2U2|P25024|cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007166)_%7C_chemokine-mediated_%20_signaling_%20_pathway_%20_(GO:0070098)_%7C_chemotaxis_%20_(GO:0006935)_%7C_dendritic_%20_cell_%20_chemotaxis_%20_(GO:0002407)_%7C_G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_interleukin-8-mediated_%20_signaling_%20_pathway_%20_(GO:0038112)_%7C_receptor_%20_internalization_%20_(GO:0031623)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|chemokine_%20_receptor_%20_activity_%20_(GO:0004950)_%7C_G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_interleukin-8_%20_binding_%20_(GO:0019959)_%7C_interleukin-8_%20_receptor_%20_activity_%20_(GO:0004918)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 220462640 exm269819 G T . PASS FUNCOTATION=[STK11IP|hg19|chr2|220462640|220462640|DE_NOVO_START_IN_FRAME||SNP|G|G|T|g.chr2:220462640G>T|ENST00000456909.1|+|1|||||0.6209476309226932|CAGACGGGGAGGTTCGGTATG|STK11IP_ENST00000295641.10_MISSENSE_p.R1M/STK11IP_ENST00000459692.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||149|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(70)_%7C_pancreas(22)|||||||AC009955|||HGNC:19184|serine/threonine_%20_kinase_%20_11_%20_interacting_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||LIP1_%2C__%20_KIAA1898_%2C__%20_LKB1IP_%2C__%20_STK11IP1|"LKB1_%20_interacting_%20_protein"|2q35|2014-11-19|||AF450267||114790|ENSG00000144589|11741830|NM_052902|||CCDS46521|OTTHUMG00000059239|114790|607172|NM_052902|Q8N1F8|ENSG00000144589|uc002vml.3|S11IP_HUMAN||Q8NAW9_%7C_Q8WXE4_%7C_Q96CN3_%7C_Q96PY9|Q8N1F8|protein_%20_localization_%20_(GO:0008104)|cytoplasm_%20_(GO:0005737)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)|protein_%20_kinase_%20_binding_%20_(GO:0019901)||||true|false|0.1667_%2C_0.8333|false|false|1||false|true|false|STK11IP:114790|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|681747|220462640|false|false|0|true|0|false|0.236589_%2C_0.763411|false|false|true|SNV|true|0x05010040000515053f000101|1|false|83|rs681747|] +2 225265759 indel.65842 G GT . PASS FUNCOTATION=[FAM124B|hg19|chr2|225265759|225265760|FRAME_SHIFT_INS||INS|-|-|T|g.chr2:225265759_225265760insT|ENST00000409685.3|-|1|993|c.726_727insA|c.(727-729)cttfs|p.L243fs|0.4975|ATACCTGAAGCAGAATCTTG|FAM124B_ENST00000389874.3_FRAME_SHIFT_INS_p.L243fs/FAM124B_ENST00000243806.2_FRAME_SHIFT_INS_p.L243fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471063|NM_001122779.1|NP_001116251.1|HGNC:26224|family_%20_with_%20_sequence_%20_similarity_%20_124_%20_member_%20_B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"family_%20_with_%20_sequence_%20_similarity_%20_124B"|FLJ22746||2q36.2|2017-11-28||2015-11-05|AK075126||79843|ENSG00000124019|23285124|NM_024785|||CCDS2461_%2C__%20_CCDS46527|OTTHUMG00000133168|79843||NM_001122779|Q9H5Z6|ENSG00000124019|uc002vnx.4|F124B_HUMAN||A6NNC7_%7C_Q8NBZ4_%7C_Q8TAV7|Q9H5Z6|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +2 238667455 indel.66367 G GTAA . PASS FUNCOTATION=[LRRFIP1|hg19|chr2|238667455|238667456|IN_FRAME_INS||INS|-|-|TAA|g.chr2:238667455_238667456insTAA|ENST00000308482.9|+|18|1377|c.1308_1309insTAA|c.(1309-1311)gaa>TAAgaa|p.436_437ins*|0.3775|GCTGAAAGAGGAATTAAAGG|LRRFIP1_ENST00000244815.5_INTRON/LRRFIP1_ENST00000289175.6_INTRON/LRRFIP1_ENST00000392000.4_INTRON|||||||||||||||||||||||||253|biliary_tract(2)_%7C_breast(148)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||U69609|NM_001137550.1|NP_001131022.1|HGNC:6702|LRR_%20_binding_%20_FLII_%20_interacting_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"leucine_%20_rich_%20_repeat_%20_(in_%20_FLII)_%20_interacting_%20_protein_%20_1"|FLAP-1_%2C__%20_FLIIAP1_%2C__%20_TRIP_%2C__%20_GCF-2_%2C__%20_HUFI-1|"GC-binding_%20_factor_%20_2"|2q37.3|2016-06-20||2016-06-20|AJ223075||9208|ENSG00000124831|9705290_%2C__%20_9525888_%2C__%20_16199883|NM_004735|||CCDS2521_%2C__%20_CCDS46551_%2C__%20_CCDS46552_%2C__%20_CCDS46553|OTTHUMG00000133339|9208|603256|NM_001137550|Q32MZ4|ENSG00000124831|uc002vxd.4|LRRF1_HUMAN||E9PGZ2_%7C_O75766_%7C_O75799_%7C_Q32MZ5_%7C_Q53T49_%7C_Q6PKG2_%7C_Q9Y607|Q32MZ4|innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_positive_%20_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032481)_%7C_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006357)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|DNA_%20_binding_%20_(GO:0003677)_%7C_double-stranded_%20_RNA_%20_binding_%20_(GO:0003725)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||true|false||false|false|||false|false|false|LRRFIP1:9208|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|752147133|238667455|false|false|0|false|0|false||false|false|false|DIV|false|0x050000080005000402000200|1|false|144|rs752147133|] +21 37948710 exm2275316 G A . PASS FUNCOTATION=[CLDN14|hg19|chr21|37948710|37948710|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr21:37948710G>A|ENST00000342108.2|-|1|||||0.4937655860349127|GCCACTCACCGTGCTGCTGTG||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC012126|NM_001146077.1|NP_001139549.1|HGNC:2035|claudin_%20_14|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DFNB29||||21q22.13|2016-10-05|||AJ132445||23562|ENSG00000159261|11163249|NM_144492|1152_%7C_488|Deafness_%20_associated_%20_genes_%7C_Claudins|CCDS13645|OTTHUMG00000086638|23562|605608|NM_001146077|O95500|ENSG00000159261|uc002yvo.2|CLD14_HUMAN|||O95500|calcium-independent_%20_cell-cell_%20_adhesion_%20_(GO:0016338)_%7C_cell_%20_junction_%20_assembly_%20_(GO:0034329)_%7C_cell-cell_%20_junction_%20_organization_%20_(GO:0045216)_%7C_protein_%20_complex_%20_assembly_%20_(GO:0006461)_%7C_tight_%20_junction_%20_assembly_%20_(GO:0070830)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_tight_%20_junction_%20_(GO:0005923)|identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +21 45987803 exm1577680 G A . PASS FUNCOTATION=[TSPEAR|hg19|chr21|45987803|45987803|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr21:45987803G>A|ENST00000397916.1|-|2|||||0.5361596009975063|TGGAGTCCCCGTGCACCGTGA|TSPEAR_ENST00000323084.4_MISSENSE_p.R57W|||||||||||||||||||||||||236|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(127)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471079|||HGNC:1268|thrombospondin_%20_type_%20_laminin_%20_G_%20_domain_%20_and_%20_EAR_%20_repeats|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C21orf29_%2C__%20_DFNB98|"chromosome_%20_21_%20_open_%20_reading_%20_frame_%20_29"_%2C__%20_"deafness_%2C__%20_autosomal_%20_recessive_%20_98"|MGC11251_%2C__%20_TSP-EAR||21q22.3|2016-05-24|2011-01-25|2016-05-24|AJ487962||54084|ENSG00000175894|12095917_%2C__%20_22678063|NM_144991|1152|Deafness_%20_associated_%20_genes|CCDS13712_%2C__%20_CCDS74801|OTTHUMG00000041215|54084|612920|NM_001272037|Q8WU66|ENSG00000175894|uc002zfe.1|TSEAR_HUMAN|||Q8WU66|sensory_%20_perception_%20_of_%20_sound_%20_(GO:0007605)|cell_%20_surface_%20_(GO:0009986)_%7C_ciliary_%20_membrane_%20_(GO:0060170)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_stereocilium_%20_(GO:0032420)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +22 24034867 exm1592938 C T . PASS FUNCOTATION=[RGL4|hg19|chr22|24034867|24034867|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr22:24034867C>T|ENST00000401461.1|+|4|||||0.5960099750623441|TCCTGCTCCACGTCCTGGGCA|RGL4_ENST00000290691.5_MISSENSE_p.R129C/AP000347.2_ENST00000417194.1_RNA/GUSBP11_ENST00000455485.1_RNA/KB-1572G7.2_ENST00000421064.1_RNA|||||||||||||||||||||||||184|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||AP000347|||HGNC:31911|ral_%20_guanine_%20_nucleotide_%20_dissociation_%20_stimulator_%20_like_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Rgr|"RalGDS_%20_related_%20_oncogene"|22q11.23|2016-03-14||2016-03-14|||266747|ENSG00000159496|9178890_%2C__%20_10851075|NM_153615|||CCDS13811|OTTHUMG00000150711|266747|612214|NM_153615|Q8IZJ4|ENSG00000159496|uc002zxn.4|RGDSR_HUMAN||Q495L8|Q8IZJ4|small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cytoplasmic_%20_vesicle_%20_(GO:0031410)|guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005085)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +22 30983274 exm1600038 G A . PASS FUNCOTATION=[PES1|hg19|chr22|30983274|30983274|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr22:30983274G>A|ENST00000405677.1|-|6|||||0.47880299251870323|CCGGCTCACCGTTCCTTGATG|PES1_ENST00000354694.7_SPLICE_SITE_p.R123W/PES1_ENST00000335214.6_SPLICE_SITE_p.R123W/PES1_ENST00000402281.1_DE_NOVO_START_OUT_FRAME/PES1_ENST00000402284.3_SPLICE_SITE_p.R123W|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471095|NM_001282328.1|NP_001269257.1|HGNC:8848|pescadillo_%20_ribosomal_%20_biogenesis_%20_factor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pescadillo_%20_(zebrafish)_%20_homolog_%20_1_%2C__%20_containing_%20_BRCT_%20_domain"_%2C__%20_"pescadillo_%20_homolog_%20_1_%2C__%20_containing_%20_BRCT_%20_domain_%20_(zebrafish)"|PES_%2C__%20_NOP7||22q12.2|2017-05-19||2012-02-23|U78310||23481|ENSG00000100029|8985183_%2C__%20_10591208_%2C__%20_17353269|NM_014303|||CCDS13880_%2C__%20_CCDS58802_%2C__%20_CCDS74842|OTTHUMG00000151077|23481|605819|NM_001243225|O00541|ENSG00000100029|uc003aij.2|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 9932407 exm288739 A G . PASS FUNCOTATION=[JAGN1|hg19|chr3|9932407|9932407|START_CODON_SNP||SNP|A|A|G|g.chr3:9932407A>G|ENST00000307768.4|+|1|170|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.7032418952618454|GGCAGGCACAATGGCGTCTCG|JAGN1_ENST00000489724.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471055|NM_032492.3|NP_115881.3|HGNC:26926|jagunal_%20_homolog_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"jagunal_%20_homolog_%20_1_%20_(Drosophila)"|GL009_%2C__%20_FLJ14602||3p25.3|2016-10-05||2015-06-09|AK074760||84522|ENSG00000171135|25129144|NM_032492|||CCDS2588|OTTHUMG00000128523|84522|616012|NM_032492|Q8N5M9|ENSG00000171135|uc003btt.5|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 11643465 exm290624 T C . PASS FUNCOTATION=[VGLL4|hg19|chr3|11643465|11643465|DE_NOVO_START_IN_FRAME||SNP|T|T|C|g.chr3:11643465T>C|ENST00000413604.1|-|2|||||0.5760598503740648|GCAGGGTCTGTATTCTGGGTT|VGLL4_ENST00000430365.2_MISSENSE_p.I38M/VGLL4_ENST00000273038.3_MISSENSE_p.I32M/VGLL4_ENST00000404339.1_MISSENSE_p.I37M|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||DQ384470|NM_001284391.1|NP_001271320.1|HGNC:28966|vestigial_%20_like_%20_family_%20_member_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"vestigial_%20_like_%20_4_%20_(Drosophila)"_%2C__%20_"vestigial-like_%20_family_%20_member_%20_4"|KIAA0121||3p25.3-p25.2|2017-06-08||2015-11-23|D50911||9686|ENSG00000144560|8590280_%2C__%20_15140898|NM_014667|367|Vestigial_%20_like_%20_family|CCDS2606_%2C__%20_CCDS46754_%2C__%20_CCDS46755_%2C__%20_CCDS46756_%2C__%20_CCDS68342_%2C__%20_CCDS68343|OTTHUMG00000129739|9686||NM_001128219|Q14135|ENSG00000144560|uc010hdx.3|VGLL4_HUMAN||B4DTS7_%7C_J3KN68_%7C_Q7L5V0_%7C_Q9BQ78|Q14135|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 15643175 rs2279841 G A . PASS FUNCOTATION=[HACL1|hg19|chr3|15643175|15643175|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr3:15643175G>A|ENST00000321169.5|-|1|||||0.5685785536159601|AAACACGCGCGTTCTCCAATC|BTD_ENST00000449107.1_FIVE_PRIME_UTR/BTD_ENST00000303498.5_FIVE_PRIME_FLANK/BTD_ENST00000383778.4_FIVE_PRIME_FLANK/HACL1_ENST00000435217.2_FIVE_PRIME_FLANK/BTD_ENST00000437172.1_FIVE_PRIME_FLANK/HACL1_ENST00000451445.2_FIVE_PRIME_FLANK/HACL1_ENST00000456194.2_FIVE_PRIME_FLANK/HACL1_ENST00000457447.2_FIVE_PRIME_FLANK|||||||||||||||||||||||HACL1{ENST00000321169}:r.1_2072_RAF1{ENST00000251849}:r.1275_3620(1)_%7C_HACL1{ENST00000321169}:r.1_2072_RAF1{ENST00000251849}:r.1275_3300(1)||101|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(33)|||||||BC001627|NM_012260.2|NP_036392.2|HGNC:17856|2-hydroxyacyl-CoA_%20_lyase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HPCL|"2-hydroxyphytanoyl-CoA_%20_lyase"|2-HPCL_%2C__%20_PHYH2||3p25.1|2016-10-05|2006-05-16|2006-05-16|AJ131753|4.1.-.-|26061|ENSG00000131373|10468558_%2C__%20_15644336|NM_012260|||CCDS2627_%2C__%20_CCDS68360_%2C__%20_CCDS68361_%2C__%20_CCDS68362|OTTHUMG00000129862|26061|604300|NM_001284413|Q9UJ83|ENSG00000131373|uc062hdf.1|HACL1_HUMAN||B4DWI1_%7C_B4DXI5_%7C_E9PEN4_%7C_Q9BV42_%7C_Q9P0A2|Q9UJ83|cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_fatty_%20_acid_%20_alpha-oxidation_%20_(GO:0001561)_%7C_protein_%20_oligomerization_%20_(GO:0051259)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|peroxisomal_%20_matrix_%20_(GO:0005782)_%7C_peroxisome_%20_(GO:0005777)|carbon-carbon_%20_lyase_%20_activity_%20_(GO:0016830)_%7C_cofactor_%20_binding_%20_(GO:0048037)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_magnesium_%20_ion_%20_binding_%20_(GO:0000287)_%7C_receptor_%20_binding_%20_(GO:0005102)_%7C_thiamine_%20_pyrophosphate_%20_binding_%20_(GO:0030976)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 17131402 exm294647 T G . PASS FUNCOTATION=[PLCL2|hg19|chr3|17131402|17131402|NONSTOP||SNP|T|T|G|g.chr3:17131402T>G|ENST00000418129.2|+|6|3469|c.3004T>G|c.(3004-3006)Tga>Gga|p.*1002G|0.38154613466334164|AACTGGAGAATGAGGAAACTT|PLCL2_ENST00000432376.1_NONSTOP_p.*1002G|||||||||||||||||||||||||185|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(2)|||||||BC036392|NM_001144382.1|NP_001137854.1|HGNC:9064|phospholipase_%20_C_%20_like_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PLCE2|"phospholipase_%20_C_%2C__%20_epsilon_%20_2"_%2C__%20_"phospholipase_%20_C-like_%20_2"|KIAA1092||3p24.3|2015-11-17|2002-02-22|2015-11-17|AB029015||23228|ENSG00000154822|10470851||832|C2_%20_domain_%20_containing_%20_phospholipases|CCDS33713_%2C__%20_CCDS74911|OTTHUMG00000155467|23228|614276|NM_001144382|Q9UPR0|ENSG00000154822|uc011awd.3|PLCL2_HUMAN||A8K5V4_%7C_Q8N498_%7C_Q9H8L0_%7C_Q9UFP9|Q9UPR0|B_%20_cell_%20_proliferation_%20_involved_%20_in_%20_immune_%20_response_%20_(GO:0002322)_%7C_B-1a_%20_B_%20_cell_%20_differentiation_%20_(GO:0002337)_%7C_gamma-aminobutyric_%20_acid_%20_signaling_%20_pathway_%20_(GO:0007214)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_lipid_%20_metabolic_%20_process_%20_(GO:0006629)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050859)_%7C_positive_%20_regulation_%20_of_%20_receptor_%20_binding_%20_(GO:1900122)_%7C_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033135)_%7C_regulation_%20_of_%20_synaptic_%20_transmission_%2C__%20_GABAergic_%20_(GO:0032228)|cytoplasm_%20_(GO:0005737)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_GABA_%20_receptor_%20_binding_%20_(GO:0050811)_%7C_phosphatidylinositol_%20_phospholipase_%20_C_%20_activity_%20_(GO:0004435)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 25835983 exm295920 T C . PASS FUNCOTATION=[OXSM|hg19|chr3|25835983|25835983|NONSTOP||SNP|T|T|C|g.chr3:25835983T>C|ENST00000280701.3|+|3|1477|c.1378T>C|c.(1378-1380)Tag>Cag|p.*460Q|0.3491271820448878|TGCTGGACTGTAGAACATATA|OXSM_ENST00000420173.2_NONSTOP_p.*377Q/NGLY1_ENST00000417874.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||132|biliary_tract(2)_%7C_breast(49)_%7C_central_nervous_system(22)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471055|NM_017897.2|NP_060367.1|HGNC:26063|3-oxoacyl-ACP_%20_synthase_%2C__%20_mitochondrial|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KS_%2C__%20_FLJ20604_%2C__%20_FASN2D_%2C__%20_CEM1|"beta-ketoacyl_%20_synthase"|3p24.2|2017-02-02|||BC008202|2.3.1.41|54995|ENSG00000151093|12477932|NM_017897|||CCDS2643_%2C__%20_CCDS46780|OTTHUMG00000130477|54995|610324|NM_001145391|Q9NWU1|ENSG00000151093|uc003cdn.4|OXSM_HUMAN|||Q9NWU1|acyl-CoA_%20_metabolic_%20_process_%20_(GO:0006637)_%7C_medium-chain_%20_fatty_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0051792)_%7C_short-chain_%20_fatty_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0051790)|mitochondrion_%20_(GO:0005739)|3-oxoacyl-[acyl-carrier-protein]_%20_synthase_%20_activity_%20_(GO:0004315)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 27418257 exm296156 A G . PASS FUNCOTATION=[SLC4A7|hg19|chr3|27418257|27418257|NONSTOP||SNP|A|A|G|g.chr3:27418257A>G|ENST00000435667.2|-|25|3627|c.3406T>C|c.(3406-3408)Tag>Cag|p.*1136Q|0.29925187032418954|GTTCAATTCTATAATGAAGTT|SLC4A7_ENST00000455077.1_NONSTOP_p.*1132Q/SLC4A7_ENST00000295736.5_NONSTOP_p.*1215Q/SLC4A7_ENST00000428386.1_NONSTOP_p.*1091Q/SLC4A7_ENST00000454389.1_NONSTOP_p.*1260Q/SLC4A7_ENST00000440156.1_NONSTOP_p.*1247Q/SLC4A7_ENST00000445684.1_NONSTOP_p.*1211Q/SLC4A7_ENST00000446700.1_NONSTOP_p.*1207Q/SLC4A7_ENST00000437179.1_NONSTOP_p.*1096Q/SLC4A7_ENST00000388777.4_NONSTOP_p.*801Q/SLC4A7_ENST00000425128.2_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||GU354310|||HGNC:11033|solute_%20_carrier_%20_family_%20_4_%20_member_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SLC4A6|"solute_%20_carrier_%20_family_%20_4_%2C__%20_sodium_%20_bicarbonate_%20_cotransporter_%2C__%20_member_%20_7"|NBC3_%2C__%20_SBC2||3p24.1|2016-02-17||2016-02-17|AB012130||9497|ENSG00000033867|10198178_%2C__%20_9610397|NM_003615|752|Solute_%20_carriers|CCDS33721_%2C__%20_CCDS58819_%2C__%20_CCDS58820_%2C__%20_CCDS82747_%2C__%20_CCDS82748_%2C__%20_CCDS82749_%2C__%20_CCDS82750_%2C__%20_CCDS82751|OTTHUMG00000155679|9497|603353|NM_001258379|Q9Y6M7|ENSG00000033867|uc011axa.4|S4A7_HUMAN|Sodium_%20_bicarbonate(DB01390)|A6NIA8_%7C_B2CI53_%7C_B5M449_%7C_B5M451_%7C_B5M452_%7C_B5M453_%7C_B6DY52_%7C_B6DY53_%7C_C9JST9_%7C_D3K174_%7C_D3K175_%7C_O60350_%7C_Q6AHZ9_%7C_Q9HC88_%7C_Q9UIB9|Q9Y6M7|auditory_%20_receptor_%20_cell_%20_development_%20_(GO:0060117)_%7C_bicarbonate_%20_transport_%20_(GO:0015701)_%7C_cochlear_%20_nucleus_%20_development_%20_(GO:0021747)_%7C_ion_%20_transport_%20_(GO:0006811)_%7C_retina_%20_vasculature_%20_morphogenesis_%20_in_%20_camera-type_%20_eye_%20_(GO:0061299)_%7C_retinal_%20_cell_%20_programmed_%20_cell_%20_death_%20_(GO:0046666)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_cell_%20_projection_%20_(GO:0042995)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|inorganic_%20_anion_%20_exchanger_%20_activity_%20_(GO:0005452)_%7C_sodium:bicarbonate_%20_symporter_%20_activity_%20_(GO:0008510)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 36756821 exm298344 A C . PASS FUNCOTATION=[DCLK3|hg19|chr3|36756821|36756821|NONSTOP||SNP|A|A|C|g.chr3:36756821A>C|ENST00000416516.2|-|5|2436|c.1945T>G|c.(1945-1947)Tag>Gag|p.*649E|0.4488778054862843|GGTGGTGACTATGATACCTGC||||||||||||||||||||||||||859|biliary_tract(2)_%7C_breast(72)_%7C_central_nervous_system(60)_%7C_haematopoietic_and_lymphoid_tissue(54)_%7C_kidney(134)_%7C_large_intestine(243)_%7C_lung(153)_%7C_ovary(52)_%7C_pancreas(22)_%7C_stomach(54)_%7C_testis(13)|||||||DA523113|NM_033403.1|NP_208382.1|HGNC:19005|doublecortin_%20_like_%20_kinase_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DCAMKL3|"doublecortin_%20_and_%20_CaM_%20_kinase-like_%20_3"_%2C__%20_"doublecortin-like_%20_kinase_%20_3"|KIAA1765_%2C__%20_DCDC3C||3p22.2|2016-10-05|2007-04-02|2015-11-30|AB051552||85443|ENSG00000163673|11214970_%2C__%20_16869982|XM_047355|1369|Doublecortin_%20_superfamily|CCDS43064|OTTHUMG00000155805|85443|613167|NM_033403|Q9C098|ENSG00000163673|uc003cgi.2|DCLK3_HUMAN|||Q9C098||cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 37458758 exm299371 A C . PASS FUNCOTATION=[C3orf35|hg19|chr3|37458758|37458758|START_CODON_SNP||SNP|A|A|C|g.chr3:37458758A>C|ENST00000328376.5|+|5|980|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.43640897755610975|CTGAATCCACATGAAAACAAT|C3orf35_ENST00000426078.1_START_CODON_SNP_p.M1L/C3orf35_ENST00000425932.1_START_CODON_SNP_p.M1L/C3orf35_ENST00000425564.2_START_CODON_SNP_p.M1L/C3orf35_ENST00000452017.2_START_CODON_SNP_p.M1L/C3orf35_ENST00000481400.1_INTRON|||||||||||||||||||||||||112|biliary_tract(2)_%7C_breast(22)_%7C_central_nervous_system(44)_%7C_large_intestine(22)_%7C_pancreas(22)|||||||BC144377|NM_178339.2|NP_848029.2|HGNC:24082|chromosome_%20_3_%20_open_%20_reading_%20_frame_%20_35|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||APRG1|"AP20_%20_region_%20_protein"_%2C__%20_"APRG1_%20_tumor_%20_suppressor_%20_candidate"|3p22.2|2017-01-27|||AJ493599||339883|ENSG00000198590|12543795|NM_178338||||OTTHUMG00000155923|339883|611429|NM_001302831|Q8IVJ8|ENSG00000198590|uc062ida.1|APRG1_HUMAN||B7ZMA0_%7C_Q8IVJ5_%7C_Q8IVJ9|Q8IVJ8||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 46450604 exm307756 A C . PASS FUNCOTATION=[CCRL2|hg19|chr3|46450604|46450604|NONSTOP||SNP|A|A|C|g.chr3:46450604A>C|ENST00000399036.3|+|2|1386|c.1034A>C|c.(1033-1035)tAa>tCa|p.*345S|0.4538653366583541|ACCGAAGTGTAAACTAGCATC|CCRL2_ENST00000400882.2_NONSTOP_p.*345S/CCRL2_ENST00000400880.3_NONSTOP_p.*345S/CCRL2_ENST00000357392.4_NONSTOP_p.*357S/CCRL2_ENST00000441909.1_FIVE_PRIME_FLANK/RP11-24F11.2_ENST00000451485.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||525|breast(174)_%7C_kidney(92)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(8)_%7C_prostate(58)|||||||U97123|NM_003965.4|NP_003956.2|HGNC:1612|C-C_%20_motif_%20_chemokine_%20_receptor_%20_like_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"chemokine_%20_(C-C_%20_motif)_%20_receptor-like_%20_2"|HCR_%2C__%20_CRAM-B_%2C__%20_CKRX_%2C__%20_CRAM-A_%2C__%20_ACKR5|"atypical_%20_chemokine_%20_receptor_%20_5"|3p21.31|2016-10-05|2013-07-18|2016-03-14|AF014958||9034|ENSG00000121797|9473515||1090|Atypical_%20_chemokine_%20_receptors|CCDS43079_%2C__%20_CCDS46814|OTTHUMG00000156318|9034|608379|NM_001130910|O00421|ENSG00000121797|uc003cpp.5|CCRL2_HUMAN||B4DKQ8_%7C_O75307_%7C_Q4VBB0_%7C_Q6IPX0_%7C_Q7KYQ9_%7C_Q96KP5_%7C_Q9UPG0|O00421|chemokine-mediated_%20_signaling_%20_pathway_%20_(GO:0070098)_%7C_chemotaxis_%20_(GO:0006935)_%7C_G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)_%7C_inflammatory_%20_response_%20_(GO:0006954)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_plasma_%20_membrane_%20_(GO:0005886)|CCR_%20_chemokine_%20_receptor_%20_binding_%20_(GO:0048020)_%7C_chemokine_%20_receptor_%20_activity_%20_(GO:0004950)_%7C_chemokine_%20_receptor_%20_binding_%20_(GO:0042379)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 48369830 exm310825 A G . PASS FUNCOTATION=[SPINK8|hg19|chr3|48369830|48369830|START_CODON_SNP||SNP|A|A|G|g.chr3:48369830A>G|ENST00000434006.1|-|1|2|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.3865336658354115|GATCCCCTTCATGGTGACAGA||||||||||||||||||||||||||||||||||AW467501|NM_001080525.1|NP_001073994.1|HGNC:33160|serine_%20_peptidase_%20_inhibitor_%2C__%20_Kazal_%20_type_%20_8_%20_(putative)|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||3p21.31|2014-11-19|||||646424|ENSG00000229453|16930550|NM_001080525|740|Serine_%20_peptidase_%20_inhibitors_%2C__%20_Kazal_%20_type|CCDS46822|OTTHUMG00000156832|646424||NM_001080525|P0C7L1|ENSG00000229453|uc003csq.2|ISK8_HUMAN|||P0C7L1||extracellular_%20_region_%20_(GO:0005576)|serine-type_%20_endopeptidase_%20_inhibitor_%20_activity_%20_(GO:0004867)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 48506471 exm311380 C T . PASS FUNCOTATION=[TREX1|hg19|chr3|48506471|48506471|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr3:48506471C>T|ENST00000296443.9|+|1|||||0.5985037406483791|CCTGATGTGACGGACTGTGAA|ATRIP_ENST00000320211.3_MISSENSE_p.T766M/ATRIP_ENST00000412052.1_MISSENSE_p.T673M/ATRIP_ENST00000346691.4_MISSENSE_p.T739M/ATRIP_ENST00000357105.6_MISSENSE_p.T639M/TREX1_ENST00000422277.2_FIVE_PRIME_FLANK/TREX1_ENST00000433541.1_FIVE_PRIME_FLANK/TREX1_ENST00000436480.2_FIVE_PRIME_FLANK/TREX1_ENST00000444177.1_FIVE_PRIME_FLANK/TREX1_ENST00000456089.1_FIVE_PRIME_FLANK/TREX1_ENST00000492235.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471055|||HGNC:12269|three_%20_prime_%20_repair_%20_exonuclease_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AGS1|"Aicardi-Goutieres_%20_syndrome_%20_1"|DRN3||3p21.31|2017-03-24|||AF151105||11277|ENSG00000213689|10391904_%2C__%20_10393201_%2C__%20_16845398|NM_016381|544|Exonucleases|CCDS2769_%2C__%20_CCDS59451_%2C__%20_CCDS43086|OTTHUMG00000156205|11277|606609|NM_007248|Q9NSU2|ENSG00000213689|uc062jhw.1|TREX1_HUMAN||B2RCN9_%7C_Q8TEU2_%7C_Q9BPW1_%7C_Q9Y4X2|Q9NSU2|cell_%20_death_%20_(GO:0008219)_%7C_cellular_%20_response_%20_to_%20_interferon-beta_%20_(GO:0035458)_%7C_DNA_%20_catabolic_%20_process_%2C__%20_exonucleolytic_%20_(GO:0000738)_%7C_DNA_%20_metabolic_%20_process_%20_(GO:0006259)_%7C_DNA_%20_recombination_%20_(GO:0006310)_%7C_DNA_%20_repair_%20_(GO:0006281)_%7C_DNA_%20_replication_%20_(GO:0006260)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_mismatch_%20_repair_%20_(GO:0006298)_%7C_nucleic_%20_acid_%20_phosphodiester_%20_bond_%20_hydrolysis_%20_(GO:0090305)_%7C_positive_%20_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032481)_%7C_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032479)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)|3'-5'_%20_exonuclease_%20_activity_%20_(GO:0008408)_%7C_3'-5'-exodeoxyribonuclease_%20_activity_%20_(GO:0008296)_%7C_adenyl_%20_deoxyribonucleotide_%20_binding_%20_(GO:0032558)_%7C_double-stranded_%20_DNA_%20_binding_%20_(GO:0003690)_%7C_exodeoxyribonuclease_%20_III_%20_activity_%20_(GO:0008853)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_MutLalpha_%20_complex_%20_binding_%20_(GO:0032405)_%7C_MutSalpha_%20_complex_%20_binding_%20_(GO:0032407)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_single-stranded_%20_DNA_%20_binding_%20_(GO:0003697)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 49053682 indel.74958 A AT . PASS FUNCOTATION=[DALRD3|hg19|chr3|49053682|49053683|FRAME_SHIFT_INS||INS|-|-|T|g.chr3:49053682_49053683insT|ENST00000440857.1|-|10|1440|c.736_737insA|c.(736-738)ctcfs|p.L246fs|0.5525|CTCTCAAAGAGTGTGGCAAG|DALRD3_ENST00000341949.4_FRAME_SHIFT_INS_p.L413fs/DALRD3_ENST00000313778.5_FRAME_SHIFT_INS_p.L246fs/DALRD3_ENST00000441576.2_FRAME_SHIFT_INS_p.L413fs/DALRD3_ENST00000395462.4_FRAME_SHIFT_INS_p.L246fs/NDUFAF3_ENST00000326912.4_FIVE_PRIME_FLANK/NDUFAF3_ENST00000326925.6_FIVE_PRIME_FLANK/NDUFAF3_ENST00000395458.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||AC137630|||HGNC:25536|DALR_%20_anticodon_%20_binding_%20_domain_%20_containing_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10496||3p21.31|2014-11-19|||BC014099||55152|ENSG00000178149|12477932|NM_018114|||CCDS2783_%2C__%20_CCDS33754_%2C__%20_CCDS63632|OTTHUMG00000156748|55152||NM_001009996|Q5D0E6|ENSG00000178149|uc003cvm.4|DALD3_HUMAN||Q7Z5S7_%7C_Q86WY1_%7C_Q8N105_%7C_Q8NA89_%7C_Q9NVU8|Q5D0E6|arginyl-tRNA_%20_aminoacylation_%20_(GO:0006420)||arginine-tRNA_%20_ligase_%20_activity_%20_(GO:0004814)_%7C_ATP_%20_binding_%20_(GO:0005524)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 51928908 exm319305 A G . PASS FUNCOTATION=[IQCF1|hg19|chr3|51928908|51928908|NONSTOP||SNP|A|A|G|g.chr3:51928908A>G|ENST00000310914.5|-|4|679|c.616T>C|c.(616-618)Tga>Cga|p.*206R|0.5187032418952618|AGACCACTTCATTCCTTTATT||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC034228|NM_152397.2|NP_689610.2|HGNC:28607|IQ_%20_motif_%20_containing_%20_F1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC39725||3p21.2|2016-10-05|||BC029595||132141|ENSG00000173389|12477932|NM_152397|||CCDS2836|OTTHUMG00000156908|132141||NM_152397|Q8N6M8|ENSG00000173389|uc003dbv.4|IQCF1_HUMAN||Q8N711|Q8N6M8|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 57310755 indel.75748 T TA . PASS FUNCOTATION=[ASB14|hg19|chr3|57310755|57310756|SPLICE_SITE|FRAME_SHIFT_INS|INS|-|-|A|g.chr3:57310755_57310756insA|ENST00000487349.1|-|10|1708|c.1586_1587insT|c.(1585-1587)acafs|p.N530fs|0.3725|GCGAGGGTTTGCTAAAAAGA|ASB14_ENST00000389601.3_SPLICE_SITE_p.N530fs|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||AL832472|NM_130387.5|NP_569058.1|HGNC:19766|ankyrin_%20_repeat_%20_and_%20_SOCS_%20_box_%20_containing_%20_14|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ankyrin_%20_repeat_%20_and_%20_SOCS_%20_box-containing_%20_14"|DKFZp313L0121||3p14.3|2016-10-05||2011-01-25|AF403032||142686|ENSG00000239388|12076535||403|Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS46856|OTTHUMG00000158602|142686||NM_001142733|A6NK59|ENSG00000239388|uc062kwt.1|ASB14_HUMAN||C9JX97_%7C_Q8WXK2_%7C_Q92816|A6NK59|intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 67053976 indel.75928 A AT . PASS FUNCOTATION=[KBTBD8|hg19|chr3|67053976|67053977|FRAME_SHIFT_INS||INS|-|-|T|g.chr3:67053976_67053977insT|ENST00000417314.2|+|3|634|c.585_586insT|c.(586-588)ctgfs|p.L196fs|0.3825|AAAAGACCAACTGATAAGTA|KBTBD8_ENST00000460576.1_INTRON/KBTBD8_ENST00000295568.4_FRAME_SHIFT_INS_p.L170fs/KBTBD8_ENST00000469661.1_INTRON|||||||||||||||||||||||||585|biliary_tract(2)_%7C_breast(222)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_lung(134)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||BC117487|||HGNC:30691|kelch_%20_repeat_%20_and_%20_BTB_%20_domain_%20_containing_%20_8|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch_%20_repeat_%20_and_%20_BTB_%20_(POZ)_%20_domain_%20_containing_%20_8"|TA-KRP_%2C__%20_KIAA1842|"T-cell_%20_activation_%20_kelch_%20_repeat_%20_protein"|3p14.1|2016-10-05||2016-02-12|AF385438||84541|ENSG00000163376|11347906|NM_032505|861|BTB_%20_domain_%20_containing|CCDS2906|OTTHUMG00000158779|84541|616607|NM_032505|Q8NFY9|ENSG00000163376|uc003dmy.4|KBTB8_HUMAN||B4DTW6_%7C_Q96JI5|Q8NFY9||cytoskeleton_%20_(GO:0005856)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 97806944 exm332468 T C . PASS FUNCOTATION=[OR5AC2|hg19|chr3|97806944|97806944|NONSTOP||SNP|T|T|C|g.chr3:97806944T>C|ENST00000358642.2|+|1|928|c.928T>C|c.(928-930)Taa>Caa|p.*310Q|0.4114713216957606|TATAAGGAAGTAAACAGTTCC||||||||||||||||||||||||||68|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AF179759|NM_054106.1|NP_473447.1|HGNC:15431|olfactory_%20_receptor_%20_family_%20_5_%20_subfamily_%20_AC_%20_member_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"olfactory_%20_receptor_%2C__%20_family_%20_5_%2C__%20_subfamily_%20_AC_%2C__%20_member_%20_2"|HSA1||3q11.2|2015-12-09||2015-12-09|AF179759||81050|ENSG00000196578|||152|Olfactory_%20_receptors_%2C__%20_family_%20_5|CCDS33796|OTTHUMG00000160083|81050||NM_054106|Q9NZP5|ENSG00000196578|uc011bgs.2|O5AC2_HUMAN|||Q9NZP5|detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_smell_%20_(GO:0050911)_%7C_sensory_%20_perception_%20_of_%20_smell_%20_(GO:0007608)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 97869139 indel.76151 A AC . PASS FUNCOTATION=[OR5H14|hg19|chr3|97869139|97869140|FRAME_SHIFT_INS||INS|-|-|C|g.chr3:97869139_97869140insC|ENST00000437310.1|+|1|970|c.910_911insC|c.(910-912)atgfs|p.M304fs|0.345|TTCACAAAAATGTTCAAAAG|RP11-343D2.11_ENST00000508964.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC136984|NM_001005514.1|NP_001005514.1|HGNC:31286|olfactory_%20_receptor_%20_family_%20_5_%20_subfamily_%20_H_%20_member_%20_14|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"olfactory_%20_receptor_%2C__%20_family_%20_5_%2C__%20_subfamily_%20_H_%2C__%20_member_%20_14"|||3q11.2|2015-12-09||2015-12-09|||403273|ENSG00000236032|||152|Olfactory_%20_receptors_%2C__%20_family_%20_5|CCDS33798|OTTHUMG00000160079|403273||NM_001005514|A6NHG9|ENSG00000236032|uc003dsg.2|O5H14_HUMAN||B9EH15|A6NHG9||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 100354621 exm333947 C T . PASS FUNCOTATION=[GPR128|hg19|chr3|100354621|100354621|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr3:100354621C>T|ENST00000475887.1|+|1|||||0.371571072319202|ACTAGTGCTACGCGAGTGGTT|GPR128_ENST00000273352.3_MISSENSE_p.T183M|Pancreas(87_%3B_185_%20_1975_%20_7223_%20_18722)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AK172774||||||||||||||||||||||||||||||||GP128_HUMAN||Q14D94_%7C_Q86SQ2|Q96K78|G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)_%7C_neuropeptide_%20_signaling_%20_pathway_%20_(GO:0007218)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 100712249 exm334232 T C . PASS FUNCOTATION=[ABI3BP|hg19|chr3|100712249|100712249|START_CODON_SNP||SNP|T|T|C|g.chr3:100712249T>C|ENST00000471714.1|-|1|111|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.4389027431421446|CCACCTCGCATGGGGAATGAT|ABI3BP_ENST00000284322.5_START_CODON_SNP_p.M1V/ABI3BP_ENST00000495063.1_START_CODON_SNP_p.M1V|||||||||||||||||||||||||135|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(44)_%7C_large_intestine(35)_%7C_pancreas(22)|||||||AC106721|||HGNC:17265|ABI_%20_family_%20_member_%20_3_%20_binding_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ABI_%20_family_%2C__%20_member_%20_3_%20_(NESH)_%20_binding_%20_protein"|NESHBP_%2C__%20_DKFZP586L2024_%2C__%20_TARSH|"target_%20_of_%20_Nesh-SH3"|3q12.2|2015-11-17||2015-11-17|AB056106||25890|ENSG00000154175|11501947||555|Fibronectin_%20_type_%20_III_%20_domain_%20_containing|CCDS46880|OTTHUMG00000159094|25890|606279|NM_015429|Q7Z7G0|ENSG00000154175|uc003dun.4|TARSH_HUMAN||B3KSL4_%7C_Q6ZW20_%7C_Q6ZW22_%7C_Q9C082_%7C_Q9UFI6|Q7Z7G0|extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_positive_%20_regulation_%20_of_%20_cell-substrate_%20_adhesion_%20_(GO:0010811)|extracellular_%20_space_%20_(GO:0005615)_%7C_interstitial_%20_matrix_%20_(GO:0005614)|heparin_%20_binding_%20_(GO:0008201)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 107941167 exm335539 C A . PASS FUNCOTATION=[IFT57|hg19|chr3|107941167|107941167|START_CODON_SNP||SNP|C|C|A|g.chr3:107941167C>A|ENST00000264538.3|-|1|251|c.3G>T|c.(1-3)atG>atT|p.M1I|0.6408977556109726|GAGCAGCAGTCATCGCAGAAC||||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR457251|NM_018010.3|NP_060480.1|HGNC:17367|intraflagellar_%20_transport_%20_57|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ESRRBL1|"estrogen-related_%20_receptor_%20_beta_%20_like_%20_1"_%2C__%20_"intraflagellar_%20_transport_%20_57_%20_homolog_%20_(Chlamydomonas)"|FLJ10147_%2C__%20_HIPPI_%2C__%20_MHS4R2||3q13.12-q13.13|2017-06-08|2005-11-02|2014-07-03|AK001009||55081|ENSG00000114446||NM_018010|615|Intraflagellar_%20_transport_%20_proteins|CCDS2951|OTTHUMG00000159223|55081|606621|NM_018010|Q9NWB7|ENSG00000114446|uc003dwx.4|IFT57_HUMAN||Q96DA9|Q9NWB7|activation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_(GO:0006919)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_cilium_%20_assembly_%20_(GO:0042384)_%7C_heart_%20_looping_%20_(GO:0001947)_%7C_intraciliary_%20_transport_%20_(GO:0042073)_%7C_left/right_%20_pattern_%20_formation_%20_(GO:0060972)_%7C_negative_%20_regulation_%20_of_%20_epithelial_%20_cell_%20_proliferation_%20_(GO:0050680)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_smoothened_%20_signaling_%20_pathway_%20_(GO:0007224)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|centrosome_%20_(GO:0005813)_%7C_ciliary_%20_basal_%20_body_%20_(GO:0036064)_%7C_cilium_%20_(GO:0005929)_%7C_dendrite_%20_terminus_%20_(GO:0044292)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_intraciliary_%20_transport_%20_particle_%20_B_%20_(GO:0030992)_%7C_photoreceptor_%20_connecting_%20_cilium_%20_(GO:0032391)|DNA_%20_binding_%20_(GO:0003677)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 111261097 exm336575 T C . PASS FUNCOTATION=[CD96|hg19|chr3|111261097|111261097|START_CODON_SNP||SNP|T|T|C|g.chr3:111261097T>C|ENST00000352690.4|+|1|242|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.4339152119700748|CAGAAGACAATGGAGAAAAAA|CD96_ENST00000283285.5_START_CODON_SNP_p.M1T/CD96_ENST00000438817.2_START_CODON_SNP_p.M1T|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)||||Opitz_%20_Trigonocephaly_%20_syndrome|C_%20_syndrome_%2C__%20_Trigonocephaly_%20_syndrome|Familial_%20_Cancer_%20_Database|M88282|NM_005816.4|NP_005807.1|HGNC:16892|CD96_%20_molecule|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"CD96_%20_antigen"|TACTILE||3q13.13-q13.2|2017-06-08||2006-03-28|M88282||10225|ENSG00000153283|1313846||594_%7C_471_%7C_1410|Immunoglobulin_%20_like_%20_domain_%20_containing_%7C_CD_%20_molecules_%7C_Ig-like_%20_cell_%20_adhesion_%20_molecule_%20_family|CCDS2958_%2C__%20_CCDS2959_%2C__%20_CCDS82817|OTTHUMG00000159275|10225|606037|NM_001318889|P40200|ENSG00000153283|uc003dxw.4|TACT_HUMAN||Q5JPB3|P40200|cell_%20_adhesion_%20_(GO:0007155)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_regulation_%20_of_%20_immune_%20_response_%20_(GO:0050776)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 118955888 rs3806698 G A . PASS FUNCOTATION=[B4GALT4|hg19|chr3|118955888|118955888|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr3:118955888G>A|ENST00000483209.1|-|2|||||0.4713216957605985|GGCAAGAGCCGTGGAAATCCA|B4GALT4_ENST00000393765.2_DE_NOVO_START_OUT_FRAME/B4GALT4_ENST00000359213.3_DE_NOVO_START_OUT_FRAME/B4GALT4_ENST00000467604.1_DE_NOVO_START_OUT_FRAME/B4GALT4-AS1_ENST00000470790.1_RNA/B4GALT4_ENST00000460321.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||FJ525878|||HGNC:927|beta-1_%2C_4-galactosyltransferase_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"UDP-Gal:betaGlcNAc_%20_beta_%20_1_%2C_4-_%20_galactosyltransferase_%2C__%20_polypeptide_%20_4"|beta4Gal-T4||3q13.32|2016-10-05||2016-03-15|AF022367|2.4.1.275|8702|ENSG00000121578|9597550_%2C__%20_9792633|NM_003778|425|Beta_%20_4-glycosyltransferases|CCDS2986|OTTHUMG00000159358|8702|604015|NM_003778|O60513|ENSG00000121578|uc003eci.4|B4GT4_HUMAN|N-Acetyl-D-glucosamine(DB00141)|Q68D68_%7C_Q9BSW3_%7C_Q9C078|O60513|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_keratan_%20_sulfate_%20_biosynthetic_%20_process_%20_(GO:0018146)_%7C_keratan_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0042339)_%7C_membrane_%20_lipid_%20_metabolic_%20_process_%20_(GO:0006643)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)_%7C_protein_%20_N-linked_%20_glycosylation_%20_via_%20_asparagine_%20_(GO:0018279)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|Golgi_%20_membrane_%20_(GO:0000139)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|galactosyltransferase_%20_activity_%20_(GO:0008378)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_N-acetyllactosamine_%20_synthase_%20_activity_%20_(GO:0003945)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 119912256 indel.76783 G GT . PASS FUNCOTATION=[GPR156|hg19|chr3|119912256|119912257|FRAME_SHIFT_INS||INS|-|-|T|g.chr3:119912256_119912257insT|ENST00000464295.1|-|4|695|c.248_249insA|c.(247-249)tccfs|p.S84fs|0.425|ATTGGGACTGGACATCTTCA|GPR156_ENST00000461057.1_FRAME_SHIFT_INS_p.S84fs/GPR156_ENST00000315843.3_FRAME_SHIFT_INS_p.S84fs|||||||||||||||||||||||||194|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(104)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC143606|||HGNC:20844|G_%20_protein-coupled_%20_receptor_%20_156|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||PGR28_%2C__%20_GABABL||3q13.33|2014-11-19|||AF488739||165829|ENSG00000175697|12591167|NM_153002|285|G_%20_protein-coupled_%20_receptors_%2C__%20_Class_%20_C_%20_orphans|CCDS2997_%2C__%20_CCDS54629|OTTHUMG00000159406|165829|610464|NM_001168271|Q8NFN8|ENSG00000175697|uc011bjg.3|GP156_HUMAN||B7ZL66_%7C_E9PFZ4_%7C_Q14CM1_%7C_Q86SN6|Q8NFN8||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_GABA_%20_receptor_%20_activity_%20_(GO:0004965)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 120408670 exm341061 T C . PASS FUNCOTATION=[RABL3|hg19|chr3|120408670|120408670|NONSTOP||SNP|T|T|C|g.chr3:120408670T>C|ENST00000273375.3|-|8|741|c.711A>G|c.(709-711)tgA>tgG|p.*237W|0.3740648379052369|TGAGTGTAATTCAGTCATAAT|RABL3_ENST00000483733.1_NONSTOP_p.*213W/RABL3_ENST00000491398.1_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471052|NM_173825.3|NP_776186.2|HGNC:18072|RAB_%2C__%20_member_%20_of_%20_RAS_%20_oncogene_%20_family_%20_like_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"RAB_%2C__%20_member_%20_of_%20_RAS_%20_oncogene_%20_family-like_%20_3"|MGC23920||3q13.33|2016-04-04||2016-04-04|BC020832||285282|ENSG00000144840|12477932|NM_173825|394|RAB_%20_like_%20_GTPases|CCDS3001|OTTHUMG00000159668|285282||NM_173825|Q5HYI8|ENSG00000144840|uc003edx.3|RABL3_HUMAN||Q8WUD3|Q5HYI8|small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)||GTP_%20_binding_%20_(GO:0005525)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 122133383 exm2255644 T C . PASS FUNCOTATION=[WDR5B|hg19|chr3|122133383|122133383|SILENT||SNP|T|T|C|g.chr3:122133383T>C|ENST00000330689.4|-|1|1500|c.993A>G|c.(991-993)taA>taG|p.*331*|0.3516209476309227|TTCAAAGGGATTAGTGGTTAC|RP11-299J3.8_ENST00000608015.1_FIVE_PRIME_FLANK/RP11-299J3.8_ENST00000608346.1_FIVE_PRIME_FLANK/RP11-299J3.8_ENST00000608465.1_FIVE_PRIME_FLANK/RP11-299J3.8_ENST00000608756.1_FIVE_PRIME_FLANK/RP11-299J3.8_ENST00000609469.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR457279|NM_019069.3|NP_061942.2|HGNC:17826|WD_%20_repeat_%20_domain_%20_5B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ11287||3q21.1|2013-01-09|||AK002149||54554|ENSG00000196981|10369878|NM_019069|362|WD_%20_repeat_%20_domain_%20_containing|CCDS3012|OTTHUMG00000159489|54554||NM_019069|Q86VZ2|ENSG00000196981|uc003efa.2|WDR5B_HUMAN||B2RCM9_%7C_Q9NUL4|Q86VZ2|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 122180151 indel.77008 T TGGGA . PASS FUNCOTATION=[KPNA1|hg19|chr3|122180151|122180152|FRAME_SHIFT_INS||INS|-|-|GGGA|g.chr3:122180151_122180152insGGGA|ENST00000344337.6|-|5|529|c.351_352insTCCC|c.(352-354)attfs|p.I118fs|0.3275|CTTCATCAATAGGAGGGTTA|KPNA1_ENST00000466923.1_FIVE_PRIME_FLANK|Melanoma(12_%3B_340_%20_801_%20_11196_%20_19797)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||S75295|NM_002264.3|NP_002255.3|HGNC:6394|karyopherin_%20_subunit_%20_alpha_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"karyopherin_%20_alpha_%20_1_%20_(importin_%20_alpha_%20_5)"_%2C__%20_"karyopherin_%20_alpha_%20_1"|SRP1_%2C__%20_RCH2_%2C__%20_NPI-1_%2C__%20_IPOA5|"importin_%20_alpha_%20_5"|3q21.1|2016-10-05||2016-02-01|S75295||3836|ENSG00000114030|8052633|NM_002264|596_%7C_409|Importins_%7C_Armadillo_%20_repeat_%20_containing|CCDS3013|OTTHUMG00000159487|3836|600686|NM_002264|P52294|ENSG00000114030|uc003efe.3|IMA5_HUMAN||D3DN93_%7C_Q6IBQ9_%7C_Q9BQ56|P52294|apoptotic_%20_DNA_%20_fragmentation_%20_(GO:0006309)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_component_%20_disassembly_%20_involved_%20_in_%20_execution_%20_phase_%20_of_%20_apoptosis_%20_(GO:0006921)_%7C_cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_intracellular_%20_transport_%20_of_%20_virus_%20_(GO:0075733)_%7C_NLS-bearing_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006607)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0042307)_%7C_regulation_%20_of_%20_DNA_%20_recombination_%20_(GO:0000018)_%7C_viral_%20_life_%20_cycle_%20_(GO:0019058)_%7C_viral_%20_process_%20_(GO:0016032)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_dendrite_%20_(GO:0030425)_%7C_nuclear_%20_pore_%20_(GO:0005643)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|nuclear_%20_localization_%20_sequence_%20_binding_%20_(GO:0008139)_%7C_protein_%20_transporter_%20_activity_%20_(GO:0008565)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 130394240 exm350511 A T . PASS FUNCOTATION=[COL6A6|hg19|chr3|130394240|130394240|NONSTOP||SNP|A|A|T|g.chr3:130394240A>T|ENST00000358511.6|+|36|6822|c.6791A>T|c.(6790-6792)tAa>tTa|p.*2264L|0.371571072319202|CAACATGATTAAAAAAATGCT|COL6A6_ENST00000453409.2_NONSTOP_p.*2264L|||||||||||||||||||||||||71|biliary_tract(2)_%7C_breast(1)_%7C_central_nervous_system(45)_%7C_kidney(1)_%7C_pancreas(22)|||||||AM774227|NM_001102608.1|NP_001096078.1|HGNC:27023|collagen_%20_type_%20_VI_%20_alpha_%20_6_%20_chain|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"collagen_%2C__%20_type_%20_VI_%2C__%20_alpha_%20_6"|||3q22.1|2016-07-20||2016-07-20|AL713792||131873|ENSG00000206384|23869615|NM_001102608|490|Collagens|CCDS46911|OTTHUMG00000159653|131873|616613|NM_001102608|A6NMZ7|ENSG00000206384|uc010htl.4|CO6A6_HUMAN||A7DZQ0_%7C_A7DZQ1_%7C_A7DZQ2_%7C_Q69YT0|A6NMZ7|cell_%20_adhesion_%20_(GO:0007155)_%7C_collagen_%20_catabolic_%20_process_%20_(GO:0030574)_%7C_extracellular_%20_matrix_%20_disassembly_%20_(GO:0022617)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)|collagen_%20_trimer_%20_(GO:0005581)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_proteinaceous_%20_extracellular_%20_matrix_%20_(GO:0005578)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 131102185 exm2255693 G A . PASS FUNCOTATION=[NUDT16|hg19|chr3|131102185|131102185|SILENT||SNP|G|G|A|g.chr3:131102185G>A|ENST00000521288.1|+|3|619|c.588G>A|c.(586-588)taG>taA|p.*196*|0.5087281795511222|CTCATCACTAGAGGCAGCCCT|NUDT16_ENST00000502852.1_THREE_PRIME_UTR/NUDT16_ENST00000359850.3_SILENT_p.*163*/NUDT16_ENST00000537561.1_INTRON/RP11-933H2.4_ENST00000502521.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BP199028|||HGNC:26442|nudix_%20_hydrolase_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nudix_%20_(nucleoside_%20_diphosphate_%20_linked_%20_moiety_%20_X)-type_%20_motif_%20_16"|FLJ31265||3q22.1|2016-10-24||2015-11-13|AK055827||131870|ENSG00000198585|12477932|NM_152395|667|Nudix_%20_hydrolase_%20_family|CCDS3070_%2C__%20_CCDS54640_%2C__%20_CCDS54641|OTTHUMG00000159623|131870|617381|NM_001171905|Q96DE0|ENSG00000198585|uc003eog.3|NUD16_HUMAN||B4E3B4_%7C_E9PED4_%7C_F5GYJ1_%7C_Q96N82|Q96DE0|adenosine_%20_to_%20_inosine_%20_editing_%20_(GO:0006382)_%7C_dephosphorylation_%20_(GO:0016311)_%7C_dITP_%20_catabolic_%20_process_%20_(GO:0035863)_%7C_IDP_%20_catabolic_%20_process_%20_(GO:0046709)_%7C_mRNA_%20_catabolic_%20_process_%20_(GO:0006402)_%7C_negative_%20_regulation_%20_of_%20_rRNA_%20_processing_%20_(GO:2000233)_%7C_nucleobase-containing_%20_small_%20_molecule_%20_catabolic_%20_process_%20_(GO:0034656)_%7C_nucleobase-containing_%20_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0055086)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_cycle_%20_process_%20_(GO:0090068)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_double-strand_%20_break_%20_repair_%20_(GO:2000781)_%7C_proteolysis_%20_(GO:0006508)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_snoRNA_%20_catabolic_%20_process_%20_(GO:0016077)_%7C_XDP_%20_catabolic_%20_process_%20_(GO:1901639)|cytoplasm_%20_(GO:0005737)_%7C_nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|cobalt_%20_ion_%20_binding_%20_(GO:0050897)_%7C_dIDP_%20_diphosphatase_%20_activity_%20_(GO:0097383)_%7C_dITP_%20_diphosphatase_%20_activity_%20_(GO:0035870)_%7C_GTP_%20_binding_%20_(GO:0005525)_%7C_inosine-diphosphatase_%20_activity_%20_(GO:0090450)_%7C_ITP_%20_binding_%20_(GO:1901641)_%7C_m7G(5')pppN_%20_diphosphatase_%20_activity_%20_(GO:0050072)_%7C_magnesium_%20_ion_%20_binding_%20_(GO:0000287)_%7C_manganese_%20_ion_%20_binding_%20_(GO:0030145)_%7C_metalloexopeptidase_%20_activity_%20_(GO:0008235)_%7C_mRNA_%20_binding_%20_(GO:0003729)_%7C_nucleotide_%20_phosphatase_%20_activity_%2C__%20_acting_%20_on_%20_free_%20_nucleotides_%20_(GO:0098519)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_snoRNA_%20_binding_%20_(GO:0030515)_%7C_XTP_%20_binding_%20_(GO:1901640)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 132075720 exm2038069 T C . PASS FUNCOTATION=[ACPP|hg19|chr3|132075720|132075720|NONSTOP||SNP|T|T|C|g.chr3:132075720T>C|ENST00000475741.1|+|9|1111|c.1060T>C|c.(1060-1062)Tag>Cag|p.*354Q|0.5087281795511222|CAGTACAGATTAGTGTGCACA|ACPP_ENST00000351273.7_INTRON/ACPP_ENST00000336375.5_NONSTOP_p.*387Q|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X74961|||HGNC:125|acid_%20_phosphatase_%2C__%20_prostate|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ACP3_%2C__%20_ACP-3_%2C__%20_PAP|"prostatic_%20_acid_%20_phosphatase"|3q22.1|2015-08-21||||3.1.3.2|55|ENSG00000014257|1375464_%2C__%20_2842184|NM_001099|1071|Acid_%20_phosphatases|CCDS3073_%2C__%20_CCDS46916_%2C__%20_CCDS77818|OTTHUMG00000159650|55|171790|NM_001099|P15309|ENSG00000014257|uc010htp.3|PPAP_HUMAN||D3DNC6_%7C_Q5FBY0_%7C_Q96KY0_%7C_Q96QK9_%7C_Q96QM0|P15309|adenosine_%20_metabolic_%20_process_%20_(GO:0046085)_%7C_dephosphorylation_%20_(GO:0016311)_%7C_nucleotide_%20_metabolic_%20_process_%20_(GO:0009117)_%7C_positive_%20_regulation_%20_of_%20_adenosine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0060168)_%7C_purine_%20_nucleobase_%20_metabolic_%20_process_%20_(GO:0006144)_%7C_regulation_%20_of_%20_sensory_%20_perception_%20_of_%20_pain_%20_(GO:0051930)_%7C_thiamine_%20_metabolic_%20_process_%20_(GO:0006772)|apical_%20_part_%20_of_%20_cell_%20_(GO:0045177)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_filopodium_%20_(GO:0030175)_%7C_Golgi_%20_cisterna_%20_(GO:0031985)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intracellular_%20_(GO:0005622)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_multivesicular_%20_body_%20_(GO:0005771)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_secretory_%20_granule_%20_(GO:0030141)_%7C_vesicle_%20_membrane_%20_(GO:0012506)|5'-nucleotidase_%20_activity_%20_(GO:0008253)_%7C_acid_%20_phosphatase_%20_activity_%20_(GO:0003993)_%7C_choline_%20_binding_%20_(GO:0033265)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_lysophosphatidic_%20_acid_%20_phosphatase_%20_activity_%20_(GO:0052642)_%7C_phosphatase_%20_activity_%20_(GO:0016791)_%7C_thiamine_%20_phosphate_%20_phosphatase_%20_activity_%20_(GO:0042131)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 133928551 exm352529 T C . PASS FUNCOTATION=[RYK|hg19|chr3|133928551|133928551|START_CODON_SNP||SNP|T|T|C|g.chr3:133928551T>C|ENST00000427044.2|-|5|612|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.3192019950124688|TTGTAGCACATTTTCCTTCGT|RYK_ENST00000296084.4_MISSENSE_p.M191V|||||||||||||||||||||||||1073|biliary_tract(2)_%7C_breast(201)_%7C_central_nervous_system(60)_%7C_haematopoietic_and_lymphoid_tissue(54)_%7C_kidney(46)_%7C_large_intestine(71)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_stomach(54)_%7C_testis(13)|||||||BC021700|||HGNC:10481|receptor-like_%20_tyrosine_%20_kinase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|JTK5A|"JTK5A_%20_protein_%20_tyrosine_%20_kinase"_%2C__%20_"RYK_%20_receptor-like_%20_tyrosine_%20_kinase"|D3S3195_%2C__%20_RYK1_%2C__%20_JTK5||3q22.2|2016-10-05||2012-02-28|S59184|2.7.10.1|6259|ENSG00000163785|8386829|NM_001005861|321|Receptor_%20_Tyrosine_%20_Kinases|CCDS75016_%2C__%20_CCDS77820|OTTHUMG00000159750|6259|600524|NM_001005861|P34925|ENSG00000163785|uc032sdh.1|RYK_HUMAN||Q04696|P34925|axon_%20_guidance_%20_(GO:0007411)_%7C_corpus_%20_callosum_%20_development_%20_(GO:0022038)_%7C_neuron_%20_differentiation_%20_(GO:0030182)_%7C_neuron_%20_projection_%20_development_%20_(GO:0031175)_%7C_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0018108)_%7C_positive_%20_regulation_%20_of_%20_MAPK_%20_cascade_%20_(GO:0043410)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055)|cytoplasm_%20_(GO:0005737)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ATP_%20_binding_%20_(GO:0005524)_%7C_transmembrane_%20_receptor_%20_protein_%20_tyrosine_%20_kinase_%20_activity_%20_(GO:0004714)_%7C_transmembrane_%20_signaling_%20_receptor_%20_activity_%20_(GO:0004888)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 136046015 indel.77697 G GTA . PASS FUNCOTATION=[PCCB|hg19|chr3|136046015|136046016|FRAME_SHIFT_INS||INS|-|-|TA|g.chr3:136046015_136046016insTA|ENST00000471595.1|+|12|1235|c.1217_1218insTA|c.(1216-1218)gggfs|p.G407fs|0.5225|AGGAATACGGGGGCATCATC|PCCB_ENST00000483687.1_FRAME_SHIFT_INS_p.G388fs/PCCB_ENST00000490504.1_FRAME_SHIFT_INS_p.G350fs/PCCB_ENST00000469217.1_FRAME_SHIFT_INS_p.G427fs/PCCB_ENST00000251654.4_FRAME_SHIFT_INS_p.G407fs/PCCB_ENST00000468777.1_FRAME_SHIFT_INS_p.G438fs/PCCB_ENST00000466072.1_FRAME_SHIFT_INS_p.G427fs/PCCB_ENST00000462637.1_FRAME_SHIFT_INS_p.G384fs/PCCB_ENST00000482086.1_FRAME_SHIFT_INS_p.G291fs/PCCB_ENST00000478469.1_INTRON/PCCB_ENST00000474833.1_INTRON|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(2)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AC069524|||HGNC:8654|propionyl-CoA_%20_carboxylase_%20_beta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"propionyl_%20_Coenzyme_%20_A_%20_carboxylase_%2C__%20_beta_%20_polypeptide"|||3q22.3|2016-10-05||2015-11-11||6.4.1.3|5096|ENSG00000114054|2895916||||CCDS3089_%2C__%20_CCDS54643|OTTHUMG00000159792|5096|232050|NM_000532|P05166|ENSG00000114054|uc003eqy.3|PCCB_HUMAN|Biotin(DB00121)_%7C_L-Valine(DB00161)|B7Z2Z4_%7C_Q16813_%7C_Q96CX0|P05166|biotin_%20_metabolic_%20_process_%20_(GO:0006768)_%7C_cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_fatty_%20_acid_%20_beta-oxidation_%20_(GO:0006635)_%7C_short-chain_%20_fatty_%20_acid_%20_catabolic_%20_process_%20_(GO:0019626)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_mitochondrion_%20_(GO:0005739)|ATP_%20_binding_%20_(GO:0005524)_%7C_propionyl-CoA_%20_carboxylase_%20_activity_%20_(GO:0004658)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 137717711 exm353585 A G . PASS FUNCOTATION=[CLDN18|hg19|chr3|137717711|137717711|START_CODON_SNP||SNP|A|A|G|g.chr3:137717711A>G|ENST00000343735.4|+|1|135|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5511221945137157|GTGCGCCACCATGGCCGTGAC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471052|NM_001002026.2|NP_001002026.1|HGNC:2039|claudin_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SFTPJ|"surfactant_%20_associated_%20_protein_%20_J"|||3q22.3|2014-11-19|||AF221069_%2C__%20_AY102073||51208|ENSG00000066405||NM_001002026|488|Claudins|CCDS3095_%2C__%20_CCDS33862|OTTHUMG00000159762|51208|609210|NM_001002026|P56856|ENSG00000066405|uc003erp.2|CLD18_HUMAN||A5PL21_%7C_Q96PH4|P56856|calcium-independent_%20_cell-cell_%20_adhesion_%20_(GO:0016338)_%7C_cell_%20_junction_%20_assembly_%20_(GO:0034329)_%7C_cell-cell_%20_junction_%20_organization_%20_(GO:0045216)_%7C_tight_%20_junction_%20_assembly_%20_(GO:0070830)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_tight_%20_junction_%20_(GO:0005923)|identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 138256018 variant.77781 A G . PASS FUNCOTATION=[CEP70|hg19|chr3|138256018|138256018|NONSTOP||SNP|A|A|G|g.chr3:138256018A>G|ENST00000464035.1|-|6|797|c.637T>C|c.(637-639)Taa>Caa|p.*213Q|0.34413965087281795|TAGCAAAATTACTGTCTATCC|CEP70_ENST00000264982.3_SPLICE_SITE/CEP70_ENST00000481834.1_SPLICE_SITE/CEP70_ENST00000484888.1_SPLICE_SITE/CEP70_ENST00000489254.1_SPLICE_SITE/CEP70_ENST00000542237.1_SPLICE_SITE/CEP70_ENST00000478673.1_SPLICE_SITE|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471052|||HGNC:29972|centrosomal_%20_protein_%20_70|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"centrosomal_%20_protein_%20_70kDa"|BITE_%2C__%20_FLJ13036||3q22.3|2016-03-30||2016-03-30|AF202146||80321|ENSG00000114107|14654843|NM_024491|||CCDS3102_%2C__%20_CCDS75022_%2C__%20_CCDS75023_%2C__%20_CCDS75024_%2C__%20_CCDS82842|OTTHUMG00000159891|80321|614310|NM_001288964|Q8NHQ1|ENSG00000114107|uc003esl.5|CEP70_HUMAN||B7Z5I8_%7C_B7Z7E8_%7C_D3DNE9_%7C_F5GZX8_%7C_Q96B31_%7C_Q9H2C3_%7C_Q9H2Z1_%7C_Q9H940|Q8NHQ1|G2/M_%20_transition_%20_of_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0000086)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_nuclear_%20_membrane_%20_(GO:0031965)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 145939856 exm357008 C G . PASS FUNCOTATION=[PLSCR4|hg19|chr3|145939856|145939856|START_CODON_SNP||SNP|C|C|G|g.chr3:145939856C>G|ENST00000354952.2|-|2|244|c.3G>C|c.(1-3)atG>atC|p.M1I|0.26184538653366585|ACTTACCTGACATTTTGAAGA|PLSCR4_ENST00000446574.2_START_CODON_SNP_p.M1I/PLSCR4_ENST00000493382.1_START_CODON_SNP_p.M1I/PLSCR4_ENST00000433593.2_INTRON/PLSCR4_ENST00000383083.2_START_CODON_SNP_p.M1I|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471052|NM_020353.2|NP_065086.2|HGNC:16497|phospholipid_%20_scramblase_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||3q24|2014-11-18|||AF199023||57088|ENSG00000114698|10930526|NM_020353|954|Phospholipid_%20_scramblases|CCDS3133_%2C__%20_CCDS54651|OTTHUMG00000159415|57088|607612|NM_001128304|Q9NRQ2|ENSG00000114698|uc003evt.6|PLS4_HUMAN||A8K2E9_%7C_Q2TTR3_%7C_Q658L3_%7C_Q6ZR73_%7C_Q7Z505|Q9NRQ2|cellular_%20_response_%20_to_%20_lipopolysaccharide_%20_(GO:0071222)_%7C_phospholipid_%20_scrambling_%20_(GO:0017121)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_CD4_%20_receptor_%20_binding_%20_(GO:0042609)_%7C_enzyme_%20_binding_%20_(GO:0019899)_%7C_phospholipid_%20_scramblase_%20_activity_%20_(GO:0017128)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 146322998 exm357123 A G . PASS FUNCOTATION=[PLSCR5|hg19|chr3|146322998|146322998|START_CODON_SNP||SNP|A|A|G|g.chr3:146322998A>G|ENST00000443512.1|-|1|1006|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.36658354114713215|TTTAGAGGCCATGAAGATGTC|PLSCR5_ENST00000492200.1_START_CODON_SNP_p.M1T/PLSCR5_ENST00000482567.1_START_CODON_SNP_p.M1T|||||||||||||||||||||||||||||||||AY436642|NM_001085420.1|NP_001078889.1|HGNC:19952|phospholipid_%20_scramblase_%20_family_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phospholipid_%20_scramblase_%20_family_%2C__%20_member_%20_5"|||3q24|2015-11-18||2015-11-18|AY436642||389158|ENSG00000231213||XM_371670|954|Phospholipid_%20_scramblases|CCDS46931_%2C__%20_CCDS82853|OTTHUMG00000159437|389158||NM_001085420|A0PG75|ENSG00000231213|uc062otn.1|PLS5_HUMAN||B2RXK5|A0PG75|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 151531952 exm359634 T C . PASS FUNCOTATION=[AADAC|hg19|chr3|151531952|151531952|START_CODON_SNP||SNP|T|T|C|g.chr3:151531952T>C|ENST00000232892.7|+|1|128|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.38902743142144636|ACGTTCACCATGGGAAGAAAA|AADAC_ENST00000488869.1_START_CODON_SNP_p.M1T/RP11-454C18.2_ENST00000483843.2_RNA/RP11-454C18.2_ENST00000475855.1_RNA|Ovarian(30_%3B_839_%20_841_%20_2699_%20_32801_%20_46334)||||||||||||||||||||||||278|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(188)_%7C_pancreas(22)|||||||L32179|NM_001086.2|NP_001077.2|HGNC:17|arylacetamide_%20_deacetylase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"arylacetamide_%20_deacetylase_%20_(esterase)"|DAC_%2C__%20_CES5A1||3q25.1|2015-08-24||2012-07-13|L32179|3.1.1.3|13|ENSG00000114771|8063807|NM_001086|465_%7C_464|Arylacetamide_%20_deacetylase_%20_family_%7C_Lipases|CCDS33877|OTTHUMG00000159876|13|600338|NM_001086|P22760|ENSG00000114771|uc003eze.4|AAAD_HUMAN||A8K3L3_%7C_D3DNJ6_%7C_Q8N1A9|P22760|positive_%20_regulation_%20_of_%20_triglyceride_%20_catabolic_%20_process_%20_(GO:0010898)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|catalytic_%20_activity_%20_(GO:0003824)_%7C_deacetylase_%20_activity_%20_(GO:0019213)_%7C_lipase_%20_activity_%20_(GO:0016298)_%7C_serine_%20_hydrolase_%20_activity_%20_(GO:0017171)_%7C_triglyceride_%20_lipase_%20_activity_%20_(GO:0004806)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 151545958 exm359691 T C . PASS FUNCOTATION=[AADAC|hg19|chr3|151545958|151545958|NONSTOP||SNP|T|T|C|g.chr3:151545958T>C|ENST00000232892.7|+|5|1324|c.1198T>C|c.(1198-1200)Tag>Cag|p.*400Q|0.33915211970074816|GGAAAATCTATAGTAAAACAT|RP11-454C18.2_ENST00000483843.2_RNA/RP11-454C18.2_ENST00000475855.1_RNA|Ovarian(30_%3B_839_%20_841_%20_2699_%20_32801_%20_46334)||||||||||||||||||||||||278|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(188)_%7C_pancreas(22)|||||||L32179|NM_001086.2|NP_001077.2|HGNC:17|arylacetamide_%20_deacetylase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"arylacetamide_%20_deacetylase_%20_(esterase)"|DAC_%2C__%20_CES5A1||3q25.1|2015-08-24||2012-07-13|L32179|3.1.1.3|13|ENSG00000114771|8063807|NM_001086|465_%7C_464|Arylacetamide_%20_deacetylase_%20_family_%7C_Lipases|CCDS33877|OTTHUMG00000159876|13|600338|NM_001086|P22760|ENSG00000114771|uc003eze.4|AAAD_HUMAN||A8K3L3_%7C_D3DNJ6_%7C_Q8N1A9|P22760|positive_%20_regulation_%20_of_%20_triglyceride_%20_catabolic_%20_process_%20_(GO:0010898)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|catalytic_%20_activity_%20_(GO:0003824)_%7C_deacetylase_%20_activity_%20_(GO:0019213)_%7C_lipase_%20_activity_%20_(GO:0016298)_%7C_serine_%20_hydrolase_%20_activity_%20_(GO:0017171)_%7C_triglyceride_%20_lipase_%20_activity_%20_(GO:0004806)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 153202348 exm359862 G A . PASS FUNCOTATION=[C3orf79|hg19|chr3|153202348|153202348|START_CODON_SNP||SNP|G|G|A|g.chr3:153202348G>A|ENST00000446603.2|+|1|65|c.3G>A|c.(1-3)atG>atA|p.M1I|0.428927680798005|GAGTACAGATGCATGTATGTG|RP11-23D24.2_ENST00000493214.2_RNA|||||||||||||||||||||||||||||||||AF086445|NM_001101337.1|NP_001094807.1|HGNC:37259|chromosome_%20_3_%20_open_%20_reading_%20_frame_%20_79|Approved|unknown|other|||||3q25.2|2016-09-30|||AF086445||152118|ENSG00000237787||NM_001101337||||OTTHUMG00000159629|152118||NM_001101337|P0CE67|ENSG00000237787|uc003ezt.4|CC079_HUMAN|||P0CE67|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 154147404 exm360201 T G . PASS FUNCOTATION=[GPR149|hg19|chr3|154147404|154147404|START_CODON_SNP||SNP|T|T|G|g.chr3:154147404T>G|ENST00000389740.2|-|1|101|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.3865336658354115|AATAAAGACATTGTCCTTGGT||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||DQ318360|NM_001038705.1|NP_001033794.1|HGNC:23627|G_%20_protein-coupled_%20_receptor_%20_149|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||PGR10_%2C__%20_IEDA_%2C__%20_R35||3q25.2|2017-06-27|||AY255534||344758|ENSG00000174948|11161467_%2C__%20_12679517|XM_293580|262|G_%20_protein-coupled_%20_receptors_%2C__%20_Class_%20_A_%20_orphans|CCDS43162|OTTHUMG00000159131|344758||NM_001038705|Q86SP6|ENSG00000174948|uc003faa.3|GP149_HUMAN|||Q86SP6|antral_%20_ovarian_%20_follicle_%20_growth_%20_(GO:0001547)_%7C_estrous_%20_cycle_%20_phase_%20_(GO:0060206)_%7C_negative_%20_regulation_%20_of_%20_ovulation_%20_(GO:0060280)_%7C_preantral_%20_ovarian_%20_follicle_%20_growth_%20_(GO:0001546)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 158262029 indel.78315 C CT . PASS FUNCOTATION=[RSRC1|hg19|chr3|158262029|158262030|FRAME_SHIFT_INS||INS|-|-|T|g.chr3:158262029_158262030insT|ENST00000295930.3|+|10|1132|c.970_971insT|c.(970-972)cgafs|p.R324fs|0.3125|ATTGCTCTCCGACAAGAAAG|RSRC1_ENST00000480820.1_FRAME_SHIFT_INS_p.R324fs/RSRC1_ENST00000464171.1_FRAME_SHIFT_INS_p.R266fs/RSRC1_ENST00000312179.6_FRAME_SHIFT_INS_p.R266fs/RSRC1_ENST00000475278.2_FRAME_SHIFT_INS_p.R273fs|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC010357|NM_016625.3|NP_057709.2|HGNC:24152|arginine_%20_and_%20_serine_%20_rich_%20_coiled-coil_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"arginine/serine-rich_%20_coiled-coil_%20_1"|MGC12197_%2C__%20_BM-011_%2C__%20_SRrp53_%2C__%20_SFRS21|"splicing_%20_factor_%2C__%20_arginine/serine-rich_%20_21"|3q25.32|2016-06-06||2016-06-06|AF208853||51319|ENSG00000174891|15798186_%2C__%20_19065146|NM_016625|||CCDS3181_%2C__%20_CCDS63822|OTTHUMG00000158758|51319|613352|NM_001271834|Q96IZ7|ENSG00000174891|uc062pjk.1|RSRC1_HUMAN||A8K2R9_%7C_Q96QK2_%7C_Q9NZE5|Q96IZ7|mRNA_%20_splicing_%2C__%20_via_%20_spliceosome_%20_(GO:0000398)_%7C_nucleocytoplasmic_%20_transport_%20_(GO:0006913)_%7C_RNA_%20_splicing_%20_(GO:0008380)|cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_speck_%20_(GO:0016607)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 158428700 indel.78351 C CT . PASS FUNCOTATION=[RARRES1|hg19|chr3|158428700|158428701|FRAME_SHIFT_INS||INS|-|-|T|g.chr3:158428700_158428701insT|ENST00000237696.5|-|3|643|c.361_362insA|c.(361-363)ggafs|p.G121fs|0.4275|CCCAAACGTCCCTCACCTTC|RARRES1_ENST00000479756.1_FRAME_SHIFT_INS_p.G121fs/RARRES1_ENST00000498640.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U27185|NM_206963.1|NP_996846.1|HGNC:9867|retinoic_%20_acid_%20_receptor_%20_responder_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"retinoic_%20_acid_%20_receptor_%20_responder_%20_(tazarotene_%20_induced)_%20_1"|TIG1_%2C__%20_LXNL|"latexin-like"|3q25.32|2016-03-15||2016-03-15|U27185|||ENSG00000118849|8601727_%2C__%20_9270552||||CCDS3184_%2C__%20_CCDS54665|OTTHUMG00000158834|5918|605090|NM_002888|P49788|ENSG00000118849|uc003fci.4|TIG1_HUMAN|Tretinoin(DB00755)|Q8N1D7|P49788|negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 172607362 exm365204 A G . PASS FUNCOTATION=[SPATA16|hg19|chr3|172607362|172607362|NONSTOP||SNP|A|A|G|g.chr3:172607362A>G|ENST00000351008.3|-|11|1892|c.1708T>C|c.(1708-1710)Tag>Cag|p.*570Q|0.3790523690773067|CCTAATGACTACCTTTGCTGA||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||DQ142639|NM_031955.5|NP_114161.3|HGNC:29935|spermatogenesis_%20_associated_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||NYD-SP12||3q26.31|2014-11-19|||AF345909||83893|ENSG00000144962|12529416_%2C__%20_17847006|NM_031955|||CCDS3221|OTTHUMG00000156865|83893|609856|NM_031955|Q9BXB7|ENSG00000144962|uc003fin.5|SPT16_HUMAN||Q0R0N4_%7C_Q0R0S0_%7C_Q0R0W2_%7C_Q0R129_%7C_Q0R131_%7C_Q0R140_%7C_Q0R1B8_%7C_Q0R1G5_%7C_Q0R1I2_%7C_Q0R1J6_%7C_Q0R1S4_%7C_Q0R202_%7C_Q0R280_%7C_Q0R2F8_%7C_Q0R2N6_%7C_Q0R2N7_%7C_Q0R2R0_%7C_Q0R2R1_%7C_Q0R2S3_%7C_Q0R2S4_%7C_Q0R2S5_%7C_Q0R2T4_%7C_Q0R2T7_%7C_Q0R2U2_%7C_Q0R2U8_%7C_Q0R2U9_%7C_Q0R2V5_%7C_Q0R2V7_%7C_Q8NE67|Q9BXB7|cell_%20_differentiation_%20_(GO:0030154)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_spermatogenesis_%20_(GO:0007283)|Golgi_%20_apparatus_%20_(GO:0005794)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 183014766 indel.78803 T TC . PASS FUNCOTATION=[MCF2L2|hg19|chr3|183014766|183014767|FRAME_SHIFT_INS||INS|-|-|C|g.chr3:183014766_183014767insC|ENST00000328913.3|-|12|1793|c.1494_1495insG|c.(1495-1497)aagfs|p.K499fs|0.5275|GCATTACCTTTGCATCGAGG|MCF2L2_ENST00000473233.1_FRAME_SHIFT_INS_p.K499fs/MCF2L2_ENST00000414362.2_FRAME_SHIFT_INS_p.K499fs/MCF2L2_ENST00000447025.2_FRAME_SHIFT_INS_p.K499fs/B3GNT5_ENST00000462559.1_INTRON|||||||||||||||||||||||||247|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(38)_%7C_lung(1)_%7C_pancreas(22)|||||||BC064632|NM_015078.2|NP_055893.3|HGNC:30319|MCF.2_%20_cell_%20_line_%20_derived_%20_transforming_%20_sequence-like_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA0861_%2C__%20_ARHGEF22||3q27.1|2016-10-05|||AB020668||23101|ENSG00000053524||NM_015078|722|Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factors|CCDS3243|OTTHUMG00000158388|23101||NM_015078|Q86YR7|ENSG00000053524|uc003fli.3|MF2L2_HUMAN||O94942_%7C_Q6P2B8_%7C_Q6ZVJ5_%7C_Q8N318|Q86YR7|||Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 183273440 exm367182 A T . PASS FUNCOTATION=[KLHL6|hg19|chr3|183273440|183273440|START_CODON_SNP||SNP|A|A|T|g.chr3:183273440A>T|ENST00000341319.3|-|1|38|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.5087281795511222|TGCCATCAACATCGAGACTGA||||||||||||||||||||||||||186|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(85)_%7C_large_intestine(21)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||CH471052|NM_130446.2|NP_569713.2|HGNC:18653|kelch_%20_like_%20_family_%20_member_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_6_%20_(Drosophila)"|FLJ00029|"kelch-like_%20_protein_%20_KLHL6"|3q27.1|2016-10-05||2015-11-18|AF441792||89857|ENSG00000172578|11214971_%2C__%20_12617994|NM_130446|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS3245|OTTHUMG00000148673|89857|614214|NM_130446|Q8WZ60|ENSG00000172578|uc003flr.4|KLHL6_HUMAN||B2RB31_%7C_D3DNS8_%7C_Q8N5I1_%7C_Q8N892|Q8WZ60|B_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050853)_%7C_germinal_%20_center_%20_formation_%20_(GO:0002467)||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 195960068 exm376334 T C . PASS FUNCOTATION=[SLC51A|hg19|chr3|195960068|195960068|NONSTOP||SNP|T|T|C|g.chr3:195960068T>C|ENST00000296327.5|+|9|1230|c.1021T>C|c.(1021-1023)Taa>Caa|p.*341Q|0.428927680798005|CCTCAAAGCCTAAGGTGGATG|PCYT1A_ENST00000419333.1_INTRON/SLC51A_ENST00000479732.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||CH471191|NM_152672.5|NP_689885.4|HGNC:29955|solute_%20_carrier_%20_family_%20_51_%20_alpha_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_51_%2C__%20_alpha_%20_subunit"|OSTalpha|"organic_%20_solute_%20_transporter_%2C__%20_alpha_%20_subunit"|3q29|2015-12-08||2015-12-08|||200931|ENSG00000163959|12719432_%2C__%20_20538072|NM_152672|752|Solute_%20_carriers|CCDS3314|OTTHUMG00000155684|200931|612084|NM_152672|Q86UW1|ENSG00000163959|uc003fwd.4|OSTA_HUMAN|Conjugated_%20_Estrogens(DB00286)_%7C_Digoxin(DB00390)_%7C_Dinoprostone(DB00917)|Q6ZMC7|Q86UW1|bile_%20_acid_%20_and_%20_bile_%20_salt_%20_transport_%20_(GO:0015721)_%7C_transport_%20_(GO:0006810)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_protein_%20_complex_%20_(GO:0043234)|protein_%20_heterodimerization_%20_activity_%20_(GO:0046982)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_transporter_%20_activity_%20_(GO:0005215)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 197260392 indel.79539 CA C . PASS FUNCOTATION=[BDH1|hg19|chr3|197260393|197260393|DE_NOVO_START_OUT_FRAME||DEL|A|A|-|g.chr3:197260393delA|ENST00000441275.1|-|3|||||0.5785536159600998|TCCGACGGCCAATCGGGATAA|BDH1_ENST00000392378.2_FRAME_SHIFT_DEL_p.I41fs/BDH1_ENST00000358186.2_FRAME_SHIFT_DEL_p.I41fs/BDH1_ENST00000392379.1_FRAME_SHIFT_DEL_p.I41fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||EF095211|||HGNC:1027|3-hydroxybutyrate_%20_dehydrogenase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|BDH|"3-hydroxybutyrate_%20_dehydrogenase_%20_(heart_%2C__%20_mitochondrial)"_%2C__%20_"3-hydroxybutyrate_%20_dehydrogenase_%2C__%20_type_%20_1"|SDR9C1|"short_%20_chain_%20_dehydrogenase/reductase_%20_family_%20_9C_%2C__%20_member_%20_1"|3q29|2016-12-12|2005-11-15|2016-12-12|M93107|1.1.1.30|622|ENSG00000161267|1639787_%2C__%20_19027726_%2C__%20_21791085|NM_004051|743|Short_%20_chain_%20_dehydrogenase/reductase_%20_superfamily|CCDS3328|OTTHUMG00000155478|622|603063|NM_004051|Q02338|ENSG00000161267|uc003fxu.3|BDH_HUMAN||D3DXC0_%7C_Q96ET1_%7C_Q9BRZ4|Q02338|adipose_%20_tissue_%20_development_%20_(GO:0060612)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_cellular_%20_ketone_%20_body_%20_metabolic_%20_process_%20_(GO:0046950)_%7C_cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_ketone_%20_body_%20_biosynthetic_%20_process_%20_(GO:0046951)_%7C_ketone_%20_body_%20_catabolic_%20_process_%20_(GO:0046952)_%7C_liver_%20_development_%20_(GO:0001889)_%7C_response_%20_to_%20_cadmium_%20_ion_%20_(GO:0046686)_%7C_response_%20_to_%20_corticosterone_%20_(GO:0051412)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_response_%20_to_%20_estradiol_%20_(GO:0032355)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_response_%20_to_%20_growth_%20_hormone_%20_(GO:0060416)_%7C_response_%20_to_%20_insulin_%20_(GO:0032868)_%7C_response_%20_to_%20_nutrient_%20_(GO:0007584)_%7C_response_%20_to_%20_starvation_%20_(GO:0042594)_%7C_response_%20_to_%20_toxic_%20_substance_%20_(GO:0009636)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|3-hydroxybutyrate_%20_dehydrogenase_%20_activity_%20_(GO:0003858)_%7C_phospholipid_%20_binding_%20_(GO:0005543)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 2632732 exm2240883 A G . PASS FUNCOTATION=[FAM193A|hg19|chr4|2632732|2632732|START_CODON_SNP||SNP|A|A|G|g.chr4:2632732A>G|ENST00000502458.1|+|3|322|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5960099750623441|TGTGCTGGAGATGAAGGTCCG|FAM193A_ENST00000324666.5_START_CODON_SNP_p.M1V/FAM193A_ENST00000382839.3_START_CODON_SNP_p.M1V/FAM193A_ENST00000505311.1_START_CODON_SNP_p.M1V/FAM193A_ENST00000545951.1_START_CODON_SNP_p.M1V|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC144340|||HGNC:16822|family_%20_with_%20_sequence_%20_similarity_%20_193_%20_member_%20_A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C4orf8|"chromosome_%20_4_%20_open_%20_reading_%20_frame_%20_8"_%2C__%20_"family_%20_with_%20_sequence_%20_similarity_%20_193_%2C__%20_member_%20_A"|RES4-22||4p16.3|2016-10-24|2009-09-04|2015-11-18|AB000459||8603|ENSG00000125386|9734812|NM_003704|||CCDS33943_%2C__%20_CCDS58874_%2C__%20_CCDS58875_%2C__%20_CCDS58876|OTTHUMG00000160512|8603||NM_001256666|P78312|ENSG00000125386|uc003gfd.4|F193A_HUMAN||B7ZM85_%7C_B9EGR0_%7C_E9PFA1_%7C_O43607_%7C_P78311_%7C_P78313_%7C_Q9UEG8|P78312|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 2835561 exm383150 A G . PASS FUNCOTATION=[SH3BP2|hg19|chr4|2835561|2835561|NONSTOP||SNP|A|A|G|g.chr4:2835561A>G|ENST00000356331.5|+|13|1947|c.1686A>G|c.(1684-1686)tgA>tgG|p.*562W|0.6408977556109726|GGCCTAGGTGATGGCAGTCCA|SH3BP2_ENST00000511747.1_NONSTOP_p.*562W/SH3BP2_ENST00000435136.2_NONSTOP_p.*562W/SH3BP2_ENST00000452765.2_NONSTOP_p.*562W/SH3BP2_ENST00000442312.2_NONSTOP_p.*590W/SH3BP2_ENST00000503393.2_NONSTOP_p.*619W|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)||||Cherubism|Familial_%20_Benign_%20_Giant-cell_%20_Tumor_%20_of_%20_the_%20_Jaw_%2C__%20_Familial_%20_Multilocular_%20_Cystic_%20_Disease|Familial_%20_Cancer_%20_Database|U56386|NM_003023.4|NP_003014.3|HGNC:10825|SH3_%20_domain_%20_binding_%20_protein_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Cherubism"|RES4-23_%2C__%20_CRBM||4p16.3|2016-10-25||2016-04-28|BC022996||6452|ENSG00000087266|9299232_%2C__%20_11381256|NM_003023|682_%7C_741|Pleckstrin_%20_homology_%20_domain_%20_containing_%7C_SH2_%20_domain_%20_containing|CCDS33944_%2C__%20_CCDS54715_%2C__%20_CCDS54716|OTTHUMG00000160801|6452|602104|NM_001122681|P78314|ENSG00000087266|uc003gfi.5|3BP2_HUMAN||A6NNC2_%7C_B2R5R6_%7C_B4DT04_%7C_D3DVR0_%7C_D6R919_%7C_O00500_%7C_O15373_%7C_P78315|P78314|positive_%20_regulation_%20_of_%20_signal_%20_transduction_%20_(GO:0009967)_%7C_signal_%20_transduction_%20_(GO:0007165)||SH3/SH2_%20_adaptor_%20_activity_%20_(GO:0005070)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 7765492 exm2275332 C G . PASS FUNCOTATION=[AFAP1|hg19|chr4|7765492|7765492|NONSTOP||SNP|C|C|G|g.chr4:7765492C>G|ENST00000360265.4|-|16|2428|c.2193G>C|c.(2191-2193)taG>taC|p.*731Y|0.5411471321695761|CTGCTGTCCCCTAGGTCCCGT|AFAP1_ENST00000382543.3_NONSTOP_p.*815Y/AFAP1_ENST00000358461.2_NONSTOP_p.*731Y/AFAP1_ENST00000420658.1_NONSTOP_p.*815Y/AFAP1-AS1_ENST00000608442.1_RNA/AFAP1_ENST00000513842.1_INTRON|||||||||||||||||||||||||124|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_skin(32)_%7C_upper_aerodigestive_tract(1)|||||||BC032777|||HGNC:24017|actin_%20_filament_%20_associated_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||AFAP-110_%2C__%20_AFAP||4p16.1|2016-10-05||2007-02-07|AB209676||60312|ENSG00000196526|14755689_%2C__%20_11641786_%2C__%20_11607843|NM_021638|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS3397_%2C__%20_CCDS47010|OTTHUMG00000125515|60312|608252|NM_001134647|Q8N556|ENSG00000196526|uc003gkg.2|AFAP1_HUMAN||A8K442_%7C_B4DMU2_%7C_E9PDT7_%7C_Q59EY5_%7C_Q9HBY1|Q8N556||cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_focal_%20_adhesion_%20_(GO:0005925)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 39450305 exm2256602 A G . PASS FUNCOTATION=[KLB|hg19|chr4|39450305|39450305|SILENT||SNP|A|A|G|g.chr4:39450305A>G|ENST00000257408.4|+|5|3231|c.3134A>G|c.(3133-3135)tAa>tGa|p.*1045*|0.38902743142144636|GTTGTTAGCTAAACTGATCTG||||||||||||||||||||||||||70|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_lung(1)_%7C_pancreas(22)|||||||BC113653|NM_175737.3|NP_783864.1|HGNC:15527|klotho_%20_beta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||||"b-Klotho"|4p14|2016-12-15|||AB079373||152831|ENSG00000134962||NM_175737|||CCDS3451|OTTHUMG00000128577|152831|611135|NM_175737|Q86Z14|ENSG00000134962|uc003gua.4|KLOTB_HUMAN||Q2M3K8|Q86Z14|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_MAPKKK_%20_cascade_%20_by_%20_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0090080)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|fibroblast_%20_growth_%20_factor_%20_binding_%20_(GO:0017134)_%7C_hydrolase_%20_activity_%2C__%20_hydrolyzing_%20_O-glycosyl_%20_compounds_%20_(GO:0004553)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 40810351 exm2074268 A T . PASS FUNCOTATION=[NSUN7|hg19|chr4|40810351|40810351|NONSTOP||SNP|A|A|T|g.chr4:40810351A>T|ENST00000316607.5|+|11|1895|c.1428A>T|c.(1426-1428)tgA>tgT|p.*476C|0.38403990024937656|AGTGTCTGTGAATGATGTTTT|NSUN7_ENST00000381782.2_MISSENSE_p.N518Y/RP11-632F7.3_ENST00000513127.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||BC036568|||HGNC:25857|NOP2/Sun_%20_RNA_%20_methyltransferase_%20_family_%20_member_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"NOL1/NOP2/Sun_%20_domain_%20_family_%2C__%20_member_%20_7"_%2C__%20_"NOP2/Sun_%20_domain_%20_family_%2C__%20_member_%20_7"|FLJ14001||4p14|2015-11-17||2015-11-17|BC036568||79730|ENSG00000179299|17442852|NM_024677|664|NOP2/Sun_%20_RNA_%20_methyltransferase_%20_family|CCDS3461_%2C__%20_CCDS82917|OTTHUMG00000128597|79730|617185|NM_024677|Q8NE18|ENSG00000179299|uc003gvj.4|NSUN7_HUMAN||C9JI19_%7C_Q8N9K8_%7C_Q9H815|Q8NE18|||methyltransferase_%20_activity_%20_(GO:0008168)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 41663502 indel.80694 A AT . PASS FUNCOTATION=[LIMCH1|hg19|chr4|41663502|41663503|FRAME_SHIFT_INS||INS|-|-|T|g.chr4:41663502_41663503insT|ENST00000514096.1|+|8|1690|c.1470_1471insT|c.(1471-1473)gggfs|p.G491fs|0.39|ATCAAGAAAAGGGAATATAG|LIMCH1_ENST00000313860.7_FRAME_SHIFT_INS_p.G650fs/LIMCH1_ENST00000512946.1_FRAME_SHIFT_INS_p.G650fs/LIMCH1_ENST00000508501.1_FRAME_SHIFT_INS_p.G650fs/LIMCH1_ENST00000396595.3_FRAME_SHIFT_INS_p.G496fs/LIMCH1_ENST00000381753.4_FRAME_SHIFT_INS_p.G484fs/LIMCH1_ENST00000503057.1_FRAME_SHIFT_INS_p.G1035fs/LIMCH1_ENST00000513024.1_FRAME_SHIFT_INS_p.G479fs/LIMCH1_ENST00000512820.1_FRAME_SHIFT_INS_p.G638fs/LIMCH1_ENST00000512632.1_FRAME_SHIFT_INS_p.G650fs/LIMCH1_ENST00000509277.1_FRAME_SHIFT_INS_p.G484fs/LIMCH1_ENST00000511496.1_FRAME_SHIFT_INS_p.G491fs|||||||||||||||||||||||||23|central_nervous_system(22)_%7C_lung(1)|||||||AC124009|||HGNC:29191|LIM_%20_and_%20_calponin_%20_homology_%20_domains_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||DKFZP686A01247_%2C__%20_LIMCH1A_%2C__%20_LMO7B||4p13|2015-08-25|2008-01-09||AB029025||22998|ENSG00000064042|10470851|NM_014988|1218|LIM_%20_domain_%20_containing|CCDS33977_%2C__%20_CCDS47047_%2C__%20_CCDS54763_%2C__%20_CCDS54764_%2C__%20_CCDS54765_%2C__%20_CCDS75119_%2C__%20_CCDS75121_%2C__%20_CCDS82919_%2C__%20_CCDS82920|OTTHUMG00000160575|22998|617750|NM_001112717|Q9UPQ0|ENSG00000064042|uc003gvu.6|LIMC1_HUMAN||A8MXC3_%7C_E9PHM7_%7C_Q503B5_%7C_Q5CZB1_%7C_Q5CZB6_%7C_Q5H9S8_%7C_Q68E07_%7C_Q6PJ44_%7C_Q7Z3G5_%7C_Q8N3S9_%7C_Q8N6M2|Q9UPQ0|actomyosin_%20_structure_%20_organization_%20_(GO:0031032)||zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 47593397 exm397774 A G . PASS FUNCOTATION=[ATP10D|hg19|chr4|47593397|47593397|NONSTOP||SNP|A|A|G|g.chr4:47593397A>G|ENST00000273859.3|+|23|4549|c.4280A>G|c.(4279-4281)tAg>tGg|p.*1427W|0.4239401496259352|AAAGAAAGCTAGATACCCTCC||||||||||||||||||||||||||93|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(1)_%7C_large_intestine(11)_%7C_lung(1)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||CH471069|NM_020453.3|NP_065186.3|HGNC:13549|ATPase_%20_phospholipid_%20_transporting_%20_10D_%20_(putative)|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ATPase_%2C__%20_Class_%20_V_%2C__%20_type_%20_10D"|ATPVD_%2C__%20_KIAA1487||4p12|2016-06-28||2016-02-11|AB040920||57205|ENSG00000145246|12532265|NM_020453|1210|ATPase_%20_phospholipid_%20_transporting|CCDS3476|OTTHUMG00000160784|57205||NM_020453|Q9P241|ENSG00000145246|uc003gxk.2|AT10D_HUMAN||A2RRC8_%7C_D6REN2_%7C_Q8NC70_%7C_Q96SR3|Q9P241|cation_%20_transport_%20_(GO:0006812)_%7C_ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_phospholipid_%20_translocation_%20_(GO:0045332)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ATP_%20_binding_%20_(GO:0005524)_%7C_cation-transporting_%20_ATPase_%20_activity_%20_(GO:0019829)_%7C_magnesium_%20_ion_%20_binding_%20_(GO:0000287)_%7C_phospholipid-translocating_%20_ATPase_%20_activity_%20_(GO:0004012)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 57350953 indel.81056 C CG . PASS FUNCOTATION=[SRP72|hg19|chr4|57350953|57350954|FRAME_SHIFT_INS||INS|-|-|G|g.chr4:57350953_57350954insG|ENST00000342756.5|+|10|1730|c.1009_1010insG|c.(1009-1011)catfs|p.H337fs|0.3725|AGTCCCGAGCATCTCTTACC|SRP72_ENST00000510663.1_FRAME_SHIFT_INS_p.H276fs|||||||||||||||||||||||||115|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_upper_aerodigestive_tract(1)|||||||CH471057|NM_006947.3|NP_008878.3|HGNC:11303|signal_%20_recognition_%20_particle_%20_72|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"signal_%20_recognition_%20_particle_%20_72kDa"|||4q12|2016-10-05||2016-06-22|AF069765||6731|ENSG00000174780|9224693_%2C__%20_9857079||769|Tetratricopeptide_%20_repeat_%20_domain_%20_containing|CCDS3506_%2C__%20_CCDS58898|OTTHUMG00000128843|6731|602122|NM_001267722|O76094|ENSG00000174780|uc003hbv.4|SRP72_HUMAN||G5E9Z8_%7C_Q7Z3C0|O76094|cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_SRP-dependent_%20_cotranslational_%20_protein_%20_targeting_%20_to_%20_membrane_%20_(GO:0006614)_%7C_translation_%20_(GO:0006412)|cytosol_%20_(GO:0005829)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_signal_%20_recognition_%20_particle_%2C__%20_endoplasmic_%20_reticulum_%20_targeting_%20_(GO:0005786)|7S_%20_RNA_%20_binding_%20_(GO:0008312)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_signal_%20_recognition_%20_particle_%20_binding_%20_(GO:0005047)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 68829109 exm402434 C T . PASS FUNCOTATION=[TMPRSS11A|hg19|chr4|68829109|68829109|START_CODON_SNP||SNP|C|C|T|g.chr4:68829109C>T|ENST00000334830.7|-|1|750|c.3G>A|c.(1-3)atG>atA|p.M1I|0.371571072319202|ACCGATACATCATGTACAGGA|TMPRSS11A_ENST00000508048.1_FIVE_PRIME_UTR/TMPRSS11A_ENST00000396188.2_START_CODON_SNP_p.M1I/UBA6-AS1_ENST00000500538.2_RNA|NSCLC(26_%3B_2_%20_894_%20_10941_%20_14480_%20_22546)||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BN000133|||HGNC:27954|transmembrane_%20_protease_%2C__%20_serine_%20_11A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ECRG1||4q13.2|2014-11-19|||AF071882||339967|ENSG00000187054|15328353|NM_182606|738|Proteases_%2C__%20_serine|CCDS3519_%2C__%20_CCDS47065|OTTHUMG00000129303|339967|611704|NM_001114387|Q6ZMR5|ENSG00000187054|uc003hdr.2|TM11A_HUMAN||J3KNQ8_%7C_Q2NKI9_%7C_Q6JE90_%7C_Q7RTY4_%7C_Q86TK8|Q6ZMR5|cell_%20_cycle_%20_(GO:0007049)|extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 69093631 variant.81168 A C . PASS FUNCOTATION=[TMPRSS11B|hg19|chr4|69093631|69093631|NONSTOP||SNP|A|A|C|g.chr4:69093631A>C|ENST00000332644.5|-|10|1411|c.1249T>G|c.(1249-1251)Tga>Gga|p.*417G|0.3092269326683292|CTTTTTTTTCAGAGTCCAGTC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BX537945|NM_182502.3|NP_872308.2|HGNC:25398|transmembrane_%20_protease_%2C__%20_serine_%20_11B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||4q13.2|2014-11-19|||BX537945||132724|ENSG00000185873||NM_182502|738|Proteases_%2C__%20_serine|CCDS3521|OTTHUMG00000129301|132724||NM_182502|Q86T26|ENSG00000185873|uc003hdw.5|TM11B_HUMAN||A8K4D9|Q86T26||extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 70513361 exm403696 A G . PASS FUNCOTATION=[UGT2A1|hg19|chr4|70513361|70513361|START_CODON_SNP||SNP|A|A|G|g.chr4:70513361A>G|ENST00000503640.1|-|1|58|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.3566084788029925|GTTGTTTAACATGATGTGGCT|UGT2A1_ENST00000514019.1_START_CODON_SNP_p.M1T/UGT2A1_ENST00000512704.1_START_CODON_SNP_p.M1T/UGT2A1_ENST00000286604.4_START_CODON_SNP_p.M1T|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||FJ664273|NM_006798.3|NP_006789.2|HGNC:12542|UDP_%20_glucuronosyltransferase_%20_family_%20_2_%20_member_%20_A1_%20_complex_%20_locus|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"UDP_%20_glycosyltransferase_%20_2_%20_family_%2C__%20_polypeptide_%20_A1"_%2C__%20_"UDP_%20_glucuronosyltransferase_%20_2_%20_family_%2C__%20_polypeptide_%20_A1_%2C__%20_complex_%20_locus"|||4q13.3|2016-03-01||2016-03-01|AJ006054||10941|ENSG00000173610|10359671|NM_006798|363|UDP_%20_glucuronosyltransferases|CCDS3529_%2C__%20_CCDS58901_%2C__%20_CCDS58902_%2C__%20_CCDS77925|OTTHUMG00000184942|10941|604716|NM_001252274|Q9Y4X1|ENSG00000173610|uc062xbf.1|UD2A1_HUMAN||B4E2F4_%7C_D3GER1_%7C_D3GER2_%7C_E9PDM7_%7C_J3KNA3|Q9Y4X1|cellular_%20_glucuronidation_%20_(GO:0052695)_%7C_detection_%20_of_%20_chemical_%20_stimulus_%20_(GO:0009593)_%7C_metabolic_%20_process_%20_(GO:0008152)_%7C_sensory_%20_perception_%20_of_%20_smell_%20_(GO:0007608)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|glucuronosyltransferase_%20_activity_%20_(GO:0015020)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 71201943 rs13039 A G . PASS FUNCOTATION=[CABS1|hg19|chr4|71201943|71201943|SILENT||SNP|A|A|G|g.chr4:71201943A>G|ENST00000273936.5|+|1|1261|c.1187A>G|c.(1186-1188)tAa>tGa|p.*396*|0.3690773067331671|TTCATGATTTAAAAGCAACAA||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471057|NM_033122.3|NP_149113.3|HGNC:30710|calcium_%20_binding_%20_protein_%2C__%20_spermatid_%20_associated_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C4orf35|"chromosome_%20_4_%20_open_%20_reading_%20_frame_%20_35"_%2C__%20_"calcium-binding_%20_protein_%2C__%20_spermatid-specific_%20_1"|NYD-SP26_%2C__%20_FLJ32897_%2C__%20_CLPH|"casein-like_%20_phosphoprotein"|4q13.3|2016-02-29|2011-01-25|2016-02-29|AF380838||85438|ENSG00000145309|19208547_%2C__%20_19271754|NM_033122|||CCDS3539|OTTHUMG00000129405|85438||NM_033122|Q96KC9|ENSG00000145309|uc003hff.4|CABS1_HUMAN||B2RCB5_%7C_Q86UE0_%7C_Q96M17|Q96KC9|spermatogenesis_%20_(GO:0007283)|mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_motile_%20_cilium_%20_(GO:0031514)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 71275790 exm2276910 T C . PASS FUNCOTATION=[PROL1|hg19|chr4|71275790|71275790|NONSTOP||SNP|T|T|C|g.chr4:71275790T>C|ENST00000399575.2|+|3|919|c.745T>C|c.(745-747)Tga>Cga|p.*249R|0.3940149625935162|CATTTTTGGTTGAACATGCAA||||||||||||||||||||||||||136|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(44)_%7C_large_intestine(35)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||S83198|NM_021225.4|NP_067048.4||||||||||||||||||||||||||||||PROL1_HUMAN||A8MZ07_%7C_P85047|Q99935|negative_%20_regulation_%20_of_%20_endopeptidase_%20_activity_%20_(GO:0010951)_%7C_regulation_%20_of_%20_sensory_%20_perception_%20_of_%20_pain_%20_(GO:0051930)_%7C_retina_%20_homeostasis_%20_(GO:0001895)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|endopeptidase_%20_inhibitor_%20_activity_%20_(GO:0004866)_%7C_peptidase_%20_inhibitor_%20_activity_%20_(GO:0030414)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 74270123 exm405598 C T . PASS FUNCOTATION=[ALB|hg19|chr4|74270123|74270123|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr4:74270123C>T|ENST00000503124.1|+|1|||||0.3192019950124688|TCGAGATGCACGTAAGAAATC|ALB_ENST00000295897.4_SPLICE_SITE_p.H27Y/ALB_ENST00000509063.1_SPLICE_SITE_p.H27Y/ALB_ENST00000401494.3_SPLICE_SITE_p.H27Y/ALB_ENST00000415165.2_SPLICE_SITE_p.H27Y/ALB_ENST00000505649.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AC108157|||HGNC:399|albumin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||4q13.3|2014-11-18|2006-06-30|2006-06-30|V00494||213|ENSG00000163631|6292049_%2C__%20_6192711|NM_000477|||CCDS3555|OTTHUMG00000129919|213|103600|NM_000477|P02768|ENSG00000163631|uc003hgs.5|FBF1_HUMAN||B5MEM5_%7C_Q96IF6_%7C_Q96JG4_%7C_Q96MA8|Q8TES7|apical_%20_junction_%20_assembly_%20_(GO:0043297)_%7C_cilium_%20_assembly_%20_(GO:0042384)_%7C_establishment_%20_of_%20_epithelial_%20_cell_%20_polarity_%20_(GO:0090162)|cell_%20_junction_%20_(GO:0030054)_%7C_centriole_%20_(GO:0005814)_%7C_ciliary_%20_transition_%20_fiber_%20_(GO:0097539)_%7C_spindle_%20_pole_%20_(GO:0000922)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 76943085 exm407033 A G . PASS FUNCOTATION=[CXCL10|hg19|chr4|76943085|76943085|NONSTOP||SNP|A|A|G|g.chr4:76943085A>G|ENST00000306602.1|-|4|361|c.295T>C|c.(295-297)Taa>Caa|p.*99Q|0.4164588528678304|CTCTGGTTTTAAGGAGATCTT|ART3_ENST00000341029.5_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X02530|NM_001565.3|NP_001556.2|HGNC:10637|C-X-C_%20_motif_%20_chemokine_%20_ligand_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|INP10_%2C__%20_SCYB10|"small_%20_inducible_%20_cytokine_%20_subfamily_%20_B_%20_(Cys-X-Cys)_%2C__%20_member_%20_10"_%2C__%20_"chemokine_%20_(C-X-C_%20_motif)_%20_ligand_%20_10"|IFI10_%2C__%20_IP-10_%2C__%20_crg-2_%2C__%20_mob-1_%2C__%20_C7_%2C__%20_gIP-10||4q21.1|2016-10-05|2002-08-23|2016-03-01|X02530||3627|ENSG00000169245|2437586_%2C__%20_3925348||542_%7C_483|Endogenous_%20_ligands_%7C_Chemokine_%20_ligands|CCDS43240|OTTHUMG00000160887|3627|147310|NM_001565|P02778|ENSG00000169245|uc003hjl.5|CXL10_HUMAN||Q96QJ5|P02778|blood_%20_circulation_%20_(GO:0008015)_%7C_cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007166)_%7C_cell-cell_%20_signaling_%20_(GO:0007267)_%7C_cellular_%20_response_%20_to_%20_heat_%20_(GO:0034605)_%7C_cellular_%20_response_%20_to_%20_lipopolysaccharide_%20_(GO:0071222)_%7C_chemokine-mediated_%20_signaling_%20_pathway_%20_(GO:0070098)_%7C_chemotaxis_%20_(GO:0006935)_%7C_defense_%20_response_%20_to_%20_virus_%20_(GO:0051607)_%7C_G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_muscle_%20_organ_%20_development_%20_(GO:0007517)_%7C_negative_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0016525)_%7C_positive_%20_regulation_%20_of_%20_cAMP_%20_metabolic_%20_process_%20_(GO:0030816)_%7C_positive_%20_regulation_%20_of_%20_cAMP-mediated_%20_signaling_%20_(GO:0043950)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_leukocyte_%20_chemotaxis_%20_(GO:0002690)_%7C_positive_%20_regulation_%20_of_%20_release_%20_of_%20_sequestered_%20_calcium_%20_ion_%20_into_%20_cytosol_%20_(GO:0051281)_%7C_positive_%20_regulation_%20_of_%20_T_%20_cell_%20_migration_%20_(GO:2000406)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_protein_%20_secretion_%20_(GO:0009306)_%7C_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0042127)_%7C_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0045859)_%7C_response_%20_to_%20_auditory_%20_stimulus_%20_(GO:0010996)_%7C_response_%20_to_%20_cold_%20_(GO:0009409)_%7C_response_%20_to_%20_gamma_%20_radiation_%20_(GO:0010332)_%7C_response_%20_to_%20_vitamin_%20_D_%20_(GO:0033280)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_T_%20_cell_%20_chemotaxis_%20_(GO:0010818)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|cAMP-dependent_%20_protein_%20_kinase_%20_regulator_%20_activity_%20_(GO:0008603)_%7C_chemokine_%20_activity_%20_(GO:0008009)_%7C_CXCR3_%20_chemokine_%20_receptor_%20_binding_%20_(GO:0048248)_%7C_heparin_%20_binding_%20_(GO:0008201)_%7C_receptor_%20_binding_%20_(GO:0005102)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 76955947 exm407044 T A . PASS FUNCOTATION=[CXCL11|hg19|chr4|76955947|76955947|NONSTOP||SNP|T|T|A|g.chr4:76955947T>A|ENST00000503860.1|-|5|663|c.284A>T|c.(283-285)tAa>tTa|p.*95L|0.34663341645885287|TTGATATTTTTAAAAATTCTT|CXCL11_ENST00000306621.3_NONSTOP_p.*95L/ART3_ENST00000341029.5_INTRON|Pancreas(31_%3B_57_%20_931_%20_1690_%20_18027_%20_37686)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||Y15221|||HGNC:10638|C-X-C_%20_motif_%20_chemokine_%20_ligand_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SCYB9B_%2C__%20_SCYB11|"small_%20_inducible_%20_cytokine_%20_subfamily_%20_B_%20_(Cys-X-Cys)_%2C__%20_member_%20_11"_%2C__%20_"chemokine_%20_(C-X-C_%20_motif)_%20_ligand_%20_11"|H174_%2C__%20_b-R1_%2C__%20_I-TAC_%2C__%20_IP-9||4q21.1|2016-10-05|2002-08-23|2016-03-01|U66096||6373|ENSG00000169248|9730616||542_%7C_483|Endogenous_%20_ligands_%7C_Chemokine_%20_ligands|CCDS3574|OTTHUMG00000130101|6373|604852|NM_001302123|O14625|ENSG00000169248|uc062xkv.1|CXL11_HUMAN||Q53YA3_%7C_Q92840|O14625|cell-cell_%20_signaling_%20_(GO:0007267)_%7C_chemokine-mediated_%20_signaling_%20_pathway_%20_(GO:0070098)_%7C_chemotaxis_%20_(GO:0006935)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_positive_%20_regulation_%20_of_%20_cAMP_%20_metabolic_%20_process_%20_(GO:0030816)_%7C_positive_%20_regulation_%20_of_%20_cAMP-mediated_%20_signaling_%20_(GO:0043950)_%7C_positive_%20_regulation_%20_of_%20_release_%20_of_%20_sequestered_%20_calcium_%20_ion_%20_into_%20_cytosol_%20_(GO:0051281)_%7C_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0042127)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_T_%20_cell_%20_chemotaxis_%20_(GO:0010818)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|chemokine_%20_activity_%20_(GO:0008009)_%7C_CXCR3_%20_chemokine_%20_receptor_%20_binding_%20_(GO:0048248)_%7C_heparin_%20_binding_%20_(GO:0008201)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 87812672 exm411464 A G . PASS FUNCOTATION=[C4orf36|hg19|chr4|87812672|87812672|START_CODON_SNP||SNP|A|A|G|g.chr4:87812672A>G|ENST00000473559.1|-|5|666|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.3940149625935162|TCCATACGCCATGGTGAGTTA|C4orf36_ENST00000295898.3_START_CODON_SNP_p.M1T/C4orf36_ENST00000503001.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC016746|||HGNC:28386|chromosome_%20_4_%20_open_%20_reading_%20_frame_%20_36|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC26744||4q21.3|2016-09-30|||BC016746||132989|ENSG00000163633|12477932|NM_144645|||CCDS3615|OTTHUMG00000130597|132989||NM_144645|Q96KX1|ENSG00000163633|uc062xzo.1|CD036_HUMAN|||Q96KX1|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 88416233 exm411973 G A . PASS FUNCOTATION=[SPARCL1|hg19|chr4|88416233|88416233|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr4:88416233G>A|ENST00000503414.1|-|4|||||0.3117206982543641|AGGTGCTACCGTTTCAGCAGT|SPARCL1_ENST00000282470.6_MISSENSE_p.T34M/SPARCL1_ENST00000418378.1_MISSENSE_p.T34M|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AK304494|||HGNC:11220|SPARC_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"SPARC-like_%20_1_%20_(mast9_%2C__%20_hevin)"|MAST9|"hevin"|4q22.1|2016-10-05||2015-11-13|X86693||8404|ENSG00000152583|8488563_%2C__%20_7600298_%2C__%20_16844696||1278|SPARC_%20_family|CCDS3622_%2C__%20_CCDS77939|OTTHUMG00000130605|8404|606041|NM_001128310|Q14515|ENSG00000152583|uc003hqs.5|SPRL1_HUMAN||B4E2Z0_%7C_E7ESU2_%7C_Q14800|Q14515|signal_%20_transduction_%20_(GO:0007165)|extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_proteinaceous_%20_extracellular_%20_matrix_%20_(GO:0005578)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 90830509 variant.82032 G T . PASS FUNCOTATION=[MMRN1|hg19|chr4|90830509|90830509|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr4:90830509G>T|ENST00000508372.1|+|2|||||0.3566084788029925|AGGTGGGAAAGGACCTTGTGG|MMRN1_ENST00000394980.1_NONSENSE_p.G236*/MMRN1_ENST00000264790.2_NONSENSE_p.G236*/MMRN1_ENST00000394981.1_NONSENSE_p.G202*|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(3)_%7C_oesophagus(4)_%7C_pancreas(22)|||||||AC093759|||HGNC:7178|multimerin_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MMRN|"multimerin"|ECM_%2C__%20_EMILIN4_%2C__%20_GPIa*|"glycoprotein_%20_Ia*"|4q22.1|2016-10-05|2004-03-02|2004-03-02|U27109||22915|ENSG00000138722|7629143_%2C__%20_10828608|NM_007351|540|EMI_%20_domain_%20_containing|CCDS3635|OTTHUMG00000130947|22915|601456|NM_007351|Q13201|ENSG00000138722|uc003hst.4|MMRN1_HUMAN||Q4W5L1_%7C_Q6P3T8_%7C_Q6ZUL9|Q13201|blood_%20_coagulation_%20_(GO:0007596)_%7C_cell_%20_adhesion_%20_(GO:0007155)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_platelet_%20_degranulation_%20_(GO:0002576)|extracellular_%20_region_%20_(GO:0005576)_%7C_platelet_%20_alpha_%20_granule_%20_lumen_%20_(GO:0031093)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 111434635 indel.82436 A ACG . PASS FUNCOTATION=[ENPEP|hg19|chr4|111434635|111434636|FRAME_SHIFT_INS||INS|-|-|CG|g.chr4:111434635_111434636insCG|ENST00000265162.5|+|7|1715|c.1373_1374insCG|c.(1372-1374)catfs|p.P459fs|0.325|TGTCTTCGCATCCAATTATT|RP11-380D23.1_ENST00000503998.1_RNA|||||||||||||||||||||||||154|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||L14721|NM_001977.3|NP_001968.3|HGNC:3355|glutamyl_%20_aminopeptidase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"glutamyl_%20_aminopeptidase_%20_(aminopeptidase_%20_A)"|gp160_%2C__%20_CD249||4q25|2016-01-06||2016-01-06|L12468|3.4.11.7|2028|ENSG00000138792|9268642||471_%7C_1437_%7C_104|CD_%20_molecules_%7C_M1_%20_metallopeptidases_%7C_Aminopeptidases|CCDS3691|OTTHUMG00000132546|2028|138297|NM_001977|Q07075|ENSG00000138792|uc003iab.5|AMPE_HUMAN||Q504U2|Q07075|angiogenesis_%20_(GO:0001525)_%7C_angiotensin_%20_catabolic_%20_process_%20_in_%20_blood_%20_(GO:0002005)_%7C_angiotensin_%20_maturation_%20_(GO:0002003)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_cell-cell_%20_signaling_%20_(GO:0007267)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_glomerulus_%20_development_%20_(GO:0032835)_%7C_regulation_%20_of_%20_systemic_%20_arterial_%20_blood_%20_pressure_%20_by_%20_renin-angiotensin_%20_(GO:0003081)|apical_%20_part_%20_of_%20_cell_%20_(GO:0045177)_%7C_apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_brush_%20_border_%20_(GO:0005903)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_plasma_%20_membrane_%20_(GO:0005886)|aminopeptidase_%20_activity_%20_(GO:0004177)_%7C_metalloaminopeptidase_%20_activity_%20_(GO:0070006)_%7C_metallopeptidase_%20_activity_%20_(GO:0008237)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 122747017 exm422046 A G . PASS FUNCOTATION=[BBS7|hg19|chr4|122747017|122747017|NONSTOP||SNP|A|A|G|g.chr4:122747017A>G|ENST00000264499.4|-|19|2330|c.2146T>C|c.(2146-2148)Tga>Cga|p.*716R|0.2743142144638404|TTTGTATGTCATGCTGCATCG|CCNA2_ENST00000274026.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)||||Bardet-Biedl_%20_syndrome|BBS_%2C__%20_Bardet-Biedl_%20_syndrome_%2C__%20_type_%20_1-12:_%20_BBS1-12_%2C_Laurence-Moon-Biedl_%20_syndrome|Familial_%20_Cancer_%20_Database|BC032691|NM_176824.2|NP_789794.1|HGNC:18758|Bardet-Biedl_%20_syndrome_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10715_%2C__%20_BBS2L1||4q27|2016-10-25|||AF521644||55212|ENSG00000138686|||980_%7C_1122|Bardet-Biedl_%20_syndrome_%20_associated_%7C_BBSome|CCDS3724_%2C__%20_CCDS54799|OTTHUMG00000133076|55212|607590|NM_018190|Q8IWZ6|ENSG00000138686|uc003ied.4|BBS7_HUMAN||Q4W5P8_%7C_Q8N581_%7C_Q9NVI4|Q8IWZ6|brain_%20_development_%20_(GO:0007420)_%7C_cilium_%20_morphogenesis_%20_(GO:0060271)_%7C_determination_%20_of_%20_left/right_%20_symmetry_%20_(GO:0007368)_%7C_digestive_%20_tract_%20_morphogenesis_%20_(GO:0048546)_%7C_eye_%20_development_%20_(GO:0001654)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_heart_%20_looping_%20_(GO:0001947)_%7C_limb_%20_development_%20_(GO:0060173)_%7C_melanosome_%20_transport_%20_(GO:0032402)_%7C_nonmotile_%20_primary_%20_cilium_%20_assembly_%20_(GO:0035058)_%7C_palate_%20_development_%20_(GO:0060021)_%7C_pigment_%20_granule_%20_aggregation_%20_in_%20_cell_%20_center_%20_(GO:0051877)_%7C_positive_%20_regulation_%20_of_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0032436)_%7C_protein_%20_transport_%20_(GO:0015031)_%7C_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006357)_%7C_smoothened_%20_signaling_%20_pathway_%20_(GO:0007224)_%7C_visual_%20_perception_%20_(GO:0007601)|axoneme_%20_(GO:0005930)_%7C_BBSome_%20_(GO:0034464)_%7C_centrosome_%20_(GO:0005813)_%7C_ciliary_%20_basal_%20_body_%20_(GO:0036064)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|RNA_%20_polymerase_%20_II_%20_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0001103)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 126370567 indel.82760 A AC . PASS FUNCOTATION=[FAT4|hg19|chr4|126370567|126370568|FRAME_SHIFT_INS||INS|-|-|C|g.chr4:126370567_126370568insC|ENST00000394329.3|+|9|8409|c.8396_8397insC|c.(8395-8397)gaafs|p.E2799fs|0.385|CTTCTGATGAAGACATTGGG|FAT4_ENST00000335110.5_FRAME_SHIFT_INS_p.E1097fs|||||||||||||||||||||||||1246|biliary_tract(27)_%7C_breast(15)_%7C_central_nervous_system(44)_%7C_cervix(15)_%7C_haematopoietic_and_lymphoid_tissue(584)_%7C_large_intestine(206)_%7C_lung(106)_%7C_pancreas(26)_%7C_pituitary(4)_%7C_skin(3)_%7C_stomach(95)_%7C_upper_aerodigestive_tract(121)|||||||AY356402|NM_024582.4|NP_078858.4|HGNC:23109|FAT_%20_atypical_%20_cadherin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"FAT_%20_tumor_%20_suppressor_%20_homolog_%20_4_%20_(Drosophila)"|CDHF14_%2C__%20_FAT-J_%2C__%20_CDHR11|"cadherin-related_%20_family_%20_member_%20_11"|4q28.1|2015-09-01||2013-05-31|AY356402||79633|ENSG00000196159|15003449|NM_024582|24|Cadherin_%20_related|CCDS3732|OTTHUMG00000133100|79633|612411|NM_001291285|Q6V0I7|ENSG00000196159|uc003ifj.5|FAT4_HUMAN||A8K5Z6_%7C_B5MDG4_%7C_Q3LIA6_%7C_Q8TCK7_%7C_Q9H5T6|Q6V0I7|branching_%20_involved_%20_in_%20_ureteric_%20_bud_%20_morphogenesis_%20_(GO:0001658)_%7C_cerebral_%20_cortex_%20_development_%20_(GO:0021987)_%7C_digestive_%20_tract_%20_development_%20_(GO:0048565)_%7C_heart_%20_morphogenesis_%20_(GO:0003007)_%7C_heterophilic_%20_cell-cell_%20_adhesion_%20_(GO:0007157)_%7C_hippo_%20_signaling_%20_(GO:0035329)_%7C_homophilic_%20_cell_%20_adhesion_%20_(GO:0007156)_%7C_inner_%20_ear_%20_receptor_%20_stereocilium_%20_organization_%20_(GO:0060122)_%7C_neurogenesis_%20_(GO:0022008)_%7C_ossification_%20_involved_%20_in_%20_bone_%20_maturation_%20_(GO:0043931)_%7C_plasma_%20_membrane_%20_organization_%20_(GO:0007009)_%7C_regulation_%20_of_%20_metanephric_%20_nephron_%20_tubule_%20_epithelial_%20_cell_%20_differentiation_%20_(GO:0072307)|apical_%20_part_%20_of_%20_cell_%20_(GO:0045177)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 128651703 exm423993 G T . PASS FUNCOTATION=[SLC25A31|hg19|chr4|128651703|128651703|START_CODON_SNP||SNP|G|G|T|g.chr4:128651703G>T|ENST00000281154.4|+|1|171|c.3G>T|c.(1-3)atG>atT|p.M1I|0.6134663341645885|TCTCCATCATGCATCGTGAGC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471056|NM_031291.2|NP_112581.1|HGNC:25319|solute_%20_carrier_%20_family_%20_25_%20_member_%20_31|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_25_%20_(mitochondrial_%20_carrier_%3B__%20_adenine_%20_nucleotide_%20_translocator)_%2C__%20_member_%20_31"|DKFZP434N1235_%2C__%20_ANT4||4q28.1|2016-10-05||2016-02-18|AL136857||83447|ENSG00000151475|15670820|NM_031291|752|Solute_%20_carriers|CCDS3733|OTTHUMG00000133300|83447|610796|NM_001318467|Q9H0C2|ENSG00000151475|uc003ifl.4|ADT4_HUMAN|||Q9H0C2|transmembrane_%20_transport_%20_(GO:0055085)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrion_%20_(GO:0005739)_%7C_motile_%20_cilium_%20_(GO:0031514)_%7C_nucleus_%20_(GO:0005634)|transporter_%20_activity_%20_(GO:0005215)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 129805634 exm424582 A G . PASS FUNCOTATION=[SCLT1|hg19|chr4|129805634|129805634|NONSTOP||SNP|A|A|G|g.chr4:129805634A>G|ENST00000281142.5|-|21|2569|c.2065T>C|c.(2065-2067)Taa>Caa|p.*689Q|0.3341645885286783|GAATATTTTTAAATATTTTCC|SCLT1_ENST00000503215.1_NONSTOP_p.*285Q/SCLT1_ENST00000439369.2_NONSTOP_p.*176Q/SCLT1_ENST00000434680.1_NONSTOP_p.*308Q/SCLT1_ENST00000502495.1_INTRON|||||||||||||||||||||||||523|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_large_intestine(12)_%7C_lung(134)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||CH471056|NM_144643.2|NP_653244.2|HGNC:26406|sodium_%20_channel_%20_and_%20_clathrin_%20_linker_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||hCAP-1A_%2C__%20_FLJ30655||4q28.2|2014-11-19|||AK055217||132320|ENSG00000151466|15797711|NM_144643|||CCDS3740_%2C__%20_CCDS77957_%2C__%20_CCDS77958|OTTHUMG00000133346|132320|611399|NM_001300897|Q96NL6|ENSG00000151466|uc003igp.3|SCLT1_HUMAN||A4QN04_%7C_Q0VAH2_%7C_Q6P2M4|Q96NL6|cilium_%20_assembly_%20_(GO:0042384)_%7C_clustering_%20_of_%20_voltage-gated_%20_sodium_%20_channels_%20_(GO:0045162)|centriole_%20_(GO:0005814)_%7C_centrosome_%20_(GO:0005813)_%7C_ciliary_%20_transition_%20_fiber_%20_(GO:0097539)_%7C_clathrin_%20_complex_%20_(GO:0071439)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_microtubule_%20_cytoskeleton_%20_(GO:0015630)|sodium_%20_channel_%20_regulator_%20_activity_%20_(GO:0017080)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 130032945 exm424717 A G . PASS FUNCOTATION=[C4orf33|hg19|chr4|130032945|130032945|NONSTOP||SNP|A|A|G|g.chr4:130032945A>G|ENST00000281146.5|+|6|1320|c.599A>G|c.(598-600)tAg>tGg|p.*200W|0.30174563591022446|TGTGATATATAGGAGTAATAG|C4orf33_ENST00000425929.1_NONSTOP_p.*200W|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471056|NM_173487.2|NP_775758.2|HGNC:27025|chromosome_%20_4_%20_open_%20_reading_%20_frame_%20_33|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ33703||4q28.2|2016-09-30|||AK091022||132321|ENSG00000151470|12477932|NM_173487|||CCDS3741|OTTHUMG00000133347|132321||NM_001099783|Q8N1A6|ENSG00000151470|uc003igu.5|CD033_HUMAN||D3DNY2_%7C_Q6PJF3_%7C_Q8NBC5|Q8N1A6|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 144618679 indel.82923 A AC . PASS FUNCOTATION=[FREM3|hg19|chr4|144618679|144618680|FRAME_SHIFT_INS||INS|-|-|C|g.chr4:144618679_144618680insC|ENST00000329798.5|-|1|3150|c.3149_3150insG|c.(3148-3150)aatfs|p.N1050fs|0.4775|TATTATGCTATTCCCCACTA|RP13-578N3.3_ENST00000499587.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AC139713|NM_001168235.1|NP_001161707.1|HGNC:25172|FRAS1_%20_related_%20_extracellular_%20_matrix_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||4q31.21|2015-09-11|||BX091796||166752|ENSG00000183090|15345741|XM_094074|||CCDS54808|OTTHUMG00000161577|166752|608946|NM_001168235|P0C091|ENSG00000183090|uc021xsj.2|FREM3_HUMAN|||P0C091|cell_%20_adhesion_%20_(GO:0007155)_%7C_cell_%20_communication_%20_(GO:0007154)|basement_%20_membrane_%20_(GO:0005604)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 152212603 exm428580 T G . PASS FUNCOTATION=[PRSS48|hg19|chr4|152212603|152212603|NONSTOP||SNP|T|T|G|g.chr4:152212603T>G|ENST00000455694.2|+|5|987|c.985T>G|c.(985-987)Taa>Gaa|p.*329E|0.42144638403990026|CAGGGGCAGATAACTCACAGG|PRSS48_ENST00000441586.2_NONSTOP_p.*186E/SH3D19_ENST00000604030.1_INTRON|||||||||||||||||||||||||67|breast(32)_%7C_large_intestine(35)|||||||BN000134|NM_183375.2|NP_899231.2|HGNC:24635|protease_%2C__%20_serine_%20_48|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ESSPL||4q31.3|2015-11-16||2015-11-16|BN000134||345062|ENSG00000189099|12838346|NM_183375|738|Proteases_%2C__%20_serine|CCDS47145|OTTHUMG00000161673|345062||NM_183375|Q7RTY5|ENSG00000189099|uc011cif.3|PRS48_HUMAN||Q08E82_%7C_Q0VAD4|Q7RTY5||extracellular_%20_region_%20_(GO:0005576)|serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 155407595 exm430189 C A . PASS FUNCOTATION=[DCHS2|hg19|chr4|155407595|155407595|NONSTOP||SNP|C|C|A|g.chr4:155407595C>A|ENST00000456341.2|-|2|2109|c.2109G>T|c.(2107-2109)taG>taT|p.*703Y|0.4139650872817955|TACAGGAAATCTAGGCAAGAT|DCHS2_ENST00000339452.1_INTRON/DCHS2_ENST00000443500.1_NONSTOP_p.*710Y|||||||||||||||||||||||||485|biliary_tract(2)_%7C_breast(13)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(104)_%7C_large_intestine(197)_%7C_lung(103)_%7C_pancreas(22)|||||||AY354498|||HGNC:23111|dachsous_%20_cadherin-related_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CDH27_%2C__%20_PCDH23|"cadherin-like_%20_27"_%2C__%20_"dachsous_%20_2_%20_(Drosophila)"|CDHJ_%2C__%20_FLJ20047_%2C__%20_PCDHJ_%2C__%20_CDHR7|"cadherin-related_%20_family_%20_member_%20_7"|4q31.3|2016-10-05|2004-09-03|2013-10-04|BC140919||54798|ENSG00000197410|15003449|NM_001142552|24|Cadherin_%20_related|CCDS3785_%2C__%20_CCDS47150|OTTHUMG00000161556|54798|612486|NM_001142552|Q6V1P9|ENSG00000197410|uc003inw.2|PCD23_HUMAN||B2RU14_%7C_E9PC11_%7C_Q4W5P9_%7C_Q6ZS61_%7C_Q9NXU8|Q6V1P9|homophilic_%20_cell_%20_adhesion_%20_(GO:0007156)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 156274490 indel.83213 T TC . PASS FUNCOTATION=[MAP9|hg19|chr4|156274490|156274491|FRAME_SHIFT_INS||INS|-|-|C|g.chr4:156274490_156274491insC|ENST00000311277.4|-|11|1647|c.1382_1383insG|c.(1381-1383)aaafs|p.A463fs|0.2825|AGCAGCTTTTTTCTACAGTG|MAP9_ENST00000515654.1_FRAME_SHIFT_INS_p.A439fs/AC097467.2_ENST00000608463.1_RNA/AC097467.2_ENST00000610249.1_RNA/AC097467.2_ENST00000593387.2_RNA/AC097467.2_ENST00000609716.1_RNA/AC097467.2_ENST00000609486.1_RNA/AC097467.2_ENST00000598252.1_RNA/AC097467.2_ENST00000608544.1_RNA/AC097467.2_ENST00000609254.1_RNA/AC097467.2_ENST00000608092.1_RNA/AC097467.2_ENST00000597939.1_RNA/AC097467.2_ENST00000608406.1_RNA/AC097467.2_ENST00000601977.1_RNA/AC097467.2_ENST00000608762.1_RNA/AC097467.2_ENST00000417474.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000594492.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000594666.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000596165.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000596754.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000597831.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000598890.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000600928.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR749274|NM_001039580.1|NP_001034669.1|HGNC:26118|microtubule_%20_associated_%20_protein_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ASAP_%2C__%20_FLJ21159|"aster-associated_%20_protein"|4q32.1|2015-11-16||2015-11-16|AK024812||79884|ENSG00000164114|16049101|NM_001039580|||CCDS35493|OTTHUMG00000133628|79884|610070|NM_001039580|Q49MG5|ENSG00000164114|uc003ios.4|MAP9_HUMAN||Q4W5I7_%7C_Q68DU1_%7C_Q9H781_%7C_Q9H7B6|Q49MG5|cytokinesis_%20_(GO:0000910)_%7C_regulation_%20_of_%20_mitosis_%20_(GO:0007088)_%7C_spindle_%20_assembly_%20_involved_%20_in_%20_mitosis_%20_(GO:0090307)|astral_%20_microtubule_%20_(GO:0000235)_%7C_mitotic_%20_spindle_%20_midzone_%20_(GO:1990023)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 169279300 exm433315 A G . PASS FUNCOTATION=[DDX60L|hg19|chr4|169279300|169279300|NONSTOP||SNP|A|A|G|g.chr4:169279300A>G|ENST00000511577.1|-|38|5367|c.5119T>C|c.(5119-5121)Taa>Caa|p.*1707Q|0.2892768079800499|CCATGGTGTTATTCTAAATGA|DDX60L_ENST00000260184.7_NONSTOP_p.*1707Q|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CR933601|||HGNC:26429|DExD/H-box_%20_60_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DEAD_%20_(Asp-Glu-Ala-Asp)_%20_box_%20_polypeptide_%20_60-like"|FLJ31033||4q32.3|2017-09-12||2017-09-12|AK092461||91351|ENSG00000181381|26269178|NM_001012967|1559|Ski2_%20_like_%20_RNA_%20_helicases|CCDS47161|OTTHUMG00000161412|91351|616725|NM_001012967|Q5H9U9|ENSG00000181381|uc003irq.5|DDX6L_HUMAN||Q96ND6|Q5H9U9|||ATP_%20_binding_%20_(GO:0005524)_%7C_helicase_%20_activity_%20_(GO:0004386)_%7C_RNA_%20_binding_%20_(GO:0003723)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 184633795 exm436211 T C . PASS FUNCOTATION=[TRAPPC11|hg19|chr4|184633795|184633795|NONSTOP||SNP|T|T|C|g.chr4:184633795T>C|ENST00000334690.6|+|30|3602|c.3400T>C|c.(3400-3402)Tga>Cga|p.*1134R|0.3316708229426434|TGCTGCTGCATGATGTTCAAG|TRAPPC11_ENST00000512476.1_NONSTOP_p.*740R/TRAPPC11_ENST00000357207.4_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||CR533553|NM_021942.5|NP_068761.4|HGNC:25751|trafficking_%20_protein_%20_particle_%20_complex_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C4orf41|"chromosome_%20_4_%20_open_%20_reading_%20_frame_%20_41"|FLJ12716_%2C__%20_gry_%2C__%20_foigr|"gryzun_%20_homolog_%20_(Drosophila)"_%2C__%20_"foie_%20_gras_%20_homolog_%20_(zebrafish)"|4q35.1|2014-11-19|2011-12-12|2011-12-12|||60684|ENSG00000168538|19942856_%2C__%20_21525244|NM_021942|772|Trafficking_%20_protein_%20_particle_%20_complex|CCDS34112_%2C__%20_CCDS47166|OTTHUMG00000160673|60684|614138|NM_021942|Q7Z392|ENSG00000168538|uc003ivx.4|TPC11_HUMAN||A4QPB8_%7C_B2RCD6_%7C_Q5U5I7_%7C_Q6FI73_%7C_Q86T25_%7C_Q9H0L1_%7C_Q9H5K9_%7C_Q9H8Q1_%7C_Q9H9I7|Q7Z392|vesicle-mediated_%20_transport_%20_(GO:0016192)|Golgi_%20_apparatus_%20_(GO:0005794)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 185655214 exm436696 C T . PASS FUNCOTATION=[MLF1IP|hg19|chr4|185655214|185655214|START_CODON_SNP||SNP|C|C|T|g.chr4:185655214C>T|ENST00000281453.5|-|1|74|c.3G>A|c.(1-3)atG>atA|p.M1I|0.7007481296758105|CCCGCGGGGCCATGGTGCCGC|MLF1IP_ENST00000541971.1_START_CODON_SNP_p.M1I|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR457376|NM_024629.3|NP_078905.2||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 10235354 indel.84117 G GC . PASS FUNCOTATION=[FAM173B|hg19|chr5|10235354|10235355|FRAME_SHIFT_INS||INS|-|-|C|g.chr5:10235354_10235355insC|ENST00000511437.1|-|4|477|c.463_464insG|c.(463-465)tcgfs|p.S155fs|0.42|ACAACGTTCGAGTACTGCGA|FAM173B_ENST00000510047.1_INTRON/FAM173B_ENST00000280330.8_FIVE_PRIME_UTR/FAM173B_ENST00000510052.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471102|NM_199133.3|NP_954584.2|HGNC:27029|family_%20_with_%20_sequence_%20_similarity_%20_173_%20_member_%20_B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"family_%20_with_%20_sequence_%20_similarity_%20_173_%2C__%20_member_%20_B"|JS-2||5p15.2|2017-01-04||2015-11-18|||134145|ENSG00000150756|12477932|NM_199133|1400|Seven-beta-strand_%20_methyltransferase_%20_motif_%20_containing|CCDS43301_%2C__%20_CCDS58942|OTTHUMG00000161771|134145||NM_001258388|Q6P4H8|ENSG00000150756|uc003jeo.4|F173B_HUMAN||B4DT41_%7C_B4DXK2_%7C_E9PBZ4|Q6P4H8||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 33441193 exm448264 A G . PASS FUNCOTATION=[TARS|hg19|chr5|33441193|33441193|START_CODON_SNP||SNP|A|A|G|g.chr5:33441193A>G|ENST00000455217.2|+|1|123|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6583541147132169|TCGTTCGCCAATGTTTGAGGA|TARS_ENST00000265112.3_START_CODON_SNP_p.M1V/TARS_ENST00000502553.1_START_CODON_SNP_p.M1V/TARS_ENST00000414361.2_FIVE_PRIME_UTR/TARS_ENST00000541634.1_FIVE_PRIME_UTR/CTD-2203K17.1_ENST00000507251.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M63180|NM_001258438.1|NP_001245367.1|HGNC:11572|threonyl-tRNA_%20_synthetase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||||"threonine_%20_tRNA_%20_ligase_%20_1_%2C__%20_cytoplasmic"|5p13.3|2016-10-05|||AK095852|6.1.1.3|6897|ENSG00000113407||NM_152295|132|Aminoacyl_%20_tRNA_%20_synthetases_%2C__%20_Class_%20_II|CCDS3899_%2C__%20_CCDS58943|OTTHUMG00000090683|6897|187790|NM_001258437|P26639|ENSG00000113407|uc003jhy.5|SYTC_HUMAN|L-Threonine(DB00156)|A8K8I1_%7C_B4DEG8_%7C_Q96FP5_%7C_Q9BWA6|P26639|gene_%20_expression_%20_(GO:0010467)_%7C_threonyl-tRNA_%20_aminoacylation_%20_(GO:0006435)_%7C_translation_%20_(GO:0006412)_%7C_tRNA_%20_aminoacylation_%20_for_%20_protein_%20_translation_%20_(GO:0006418)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|ATP_%20_binding_%20_(GO:0005524)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_threonine-tRNA_%20_ligase_%20_activity_%20_(GO:0004829)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 36227619 exm450129 T C . PASS FUNCOTATION=[NADK2|hg19|chr5|36227619|36227619|DE_NOVO_START_OUT_FRAME||SNP|T|T|C|g.chr5:36227619T>C|ENST00000506945.1|-|2|||||0.2817955112219451|TTGGTGTGAATATGATGTCGT|NADK2_ENST00000381937.4_MISSENSE_p.I117V/NADK2_ENST00000397338.1_DE_NOVO_START_OUT_FRAME/NADK2_ENST00000282512.3_DE_NOVO_START_OUT_FRAME/NADK2_ENST00000514504.1_MISSENSE_p.I117V|||||||||||||||||||||||||||||||||BC032912|||HGNC:26404|NAD_%20_kinase_%20_2_%2C__%20_mitochondrial|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C5orf33_%2C__%20_NADKD1|"chromosome_%20_5_%20_open_%20_reading_%20_frame_%20_33"_%2C__%20_"NAD_%20_kinase_%20_domain_%20_containing_%20_1"|FLJ30596_%2C__%20_MNADK|"mitochondrial_%20_NAD_%20_kinase"|5p13.2|2016-01-27|2013-04-30|2013-04-30|BC062567|2.7.1.23|133686|ENSG00000152620|23616928|NM_153013|||CCDS3917_%2C__%20_CCDS47197_%2C__%20_CCDS75235|OTTHUMG00000131105|133686|615787|NM_001085411|Q4G0N4|ENSG00000152620||NAKD2_HUMAN||B5MC93_%7C_Q6UTX5_%7C_Q96NM0|Q4G0N4|NAD_%20_metabolic_%20_process_%20_(GO:0019674)_%7C_NADP_%20_biosynthetic_%20_process_%20_(GO:0006741)|mitochondrion_%20_(GO:0005739)|ATP_%20_binding_%20_(GO:0005524)_%7C_NAD+_%20_kinase_%20_activity_%20_(GO:0003951)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 43388500 exm453467 A T . PASS FUNCOTATION=[CCL28|hg19|chr5|43388500|43388500|START_CODON_SNP||SNP|A|A|T|g.chr5:43388500A>T|ENST00000513525.1|-|2|309|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.4239401496259352|GATGCGACACATATTCACTCT|CCL28_ENST00000361115.4_MISSENSE_p.M48K/CCL28_ENST00000537013.1_MISSENSE_p.M48K|Esophageal_%20_Squamous(178_%3B_1549_%20_1997_%20_2043_%20_22794_%20_27051)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471119|||HGNC:17700|C-C_%20_motif_%20_chemokine_%20_ligand_%20_28|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"chemokine_%20_(C-C_%20_motif)_%20_ligand_%20_28"|SCYA28_%2C__%20_MEC_%2C__%20_CCK1|"CC_%20_chemokine_%20_CCL28"_%2C__%20_"mucosae-associated_%20_epithelial_%20_chemokine"_%2C__%20_"small_%20_inducible_%20_cytokine_%20_subfamily_%20_A_%20_(Cys-Cys)_%2C__%20_member_%20_28"_%2C__%20_"small_%20_inducible_%20_cytokine_%20_A28"|5p12|2016-03-01||2016-03-01|AF110384||56477|ENSG00000151882|10781587_%2C__%20_11295038|NM_148672|542_%7C_483|Endogenous_%20_ligands_%7C_Chemokine_%20_ligands|CCDS3944_%2C__%20_CCDS78006|OTTHUMG00000094811|56477|605240|NM_001301873|Q9NRJ3|ENSG00000151882|uc003jnu.4|CCL28_HUMAN||D7RIE7|Q9NRJ3|cell_%20_chemotaxis_%20_(GO:0060326)_%7C_chemotaxis_%20_(GO:0006935)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_negative_%20_regulation_%20_of_%20_leukocyte_%20_tethering_%20_or_%20_rolling_%20_(GO:1903237)_%7C_positive_%20_regulation_%20_of_%20_cell-matrix_%20_adhesion_%20_(GO:0001954)_%7C_positive_%20_regulation_%20_of_%20_cytosolic_%20_calcium_%20_ion_%20_concentration_%20_(GO:0007204)_%7C_response_%20_to_%20_nutrient_%20_(GO:0007584)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|chemokine_%20_activity_%20_(GO:0008009)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 43656769 indel.84762 G GT . PASS FUNCOTATION=[NNT|hg19|chr5|43656769|43656770|FRAME_SHIFT_INS||INS|-|-|T|g.chr5:43656769_43656770insT|ENST00000264663.5|+|16|2529|c.2308_2309insT|c.(2308-2310)gccfs|p.A770fs|0.415|CTGAAATCTGCCCCTCTCCT|NNT_ENST00000344920.4_FRAME_SHIFT_INS_p.A770fs/NNT_ENST00000512996.2_FRAME_SHIFT_INS_p.A639fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z50101|NM_012343.3|NP_036475.3|HGNC:7863|nicotinamide_%20_nucleotide_%20_transhydrogenase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||5p12|2014-11-19|||U40490|1.6.1.1|23530|ENSG00000112992|9271681_%2C__%20_9524818|NM_182977|||CCDS3949_%2C__%20_CCDS82994|OTTHUMG00000096961|23530|607878|NM_012343|Q13423|ENSG00000112992|uc003joe.4|NNTM_HUMAN||Q16796_%7C_Q2TB60_%7C_Q8N3V4|Q13423|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_hydrogen_%20_ion_%20_transmembrane_%20_transport_%20_(GO:1902600)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_proton_%20_transport_%20_(GO:0015992)_%7C_reactive_%20_oxygen_%20_species_%20_metabolic_%20_process_%20_(GO:0072593)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_tricarboxylic_%20_acid_%20_cycle_%20_(GO:0006099)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_(GO:0005746)_%7C_mitochondrion_%20_(GO:0005739)|NAD_%20_binding_%20_(GO:0051287)_%7C_NAD(P)+_%20_transhydrogenase_%20_(AB-specific)_%20_activity_%20_(GO:0008750)_%7C_NAD(P)+_%20_transhydrogenase_%20_(B-specific)_%20_activity_%20_(GO:0003957)_%7C_NAD(P)+_%20_transhydrogenase_%20_activity_%20_(GO:0008746)_%7C_NADP_%20_binding_%20_(GO:0050661)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 44809066 exm453799 T C . PASS FUNCOTATION=[MRPS30|hg19|chr5|44809066|44809066|START_CODON_SNP||SNP|T|T|C|g.chr5:44809066T>C|ENST00000507110.1|+|1|40|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.5910224438902744|CGGGCAAAGATGGCGGCGGCC|RP11-53O19.1_ENST00000503179.1_FIVE_PRIME_FLANK/RP11-53O19.1_ENST00000503452.1_FIVE_PRIME_FLANK/RP11-53O19.1_ENST00000505302.1_FIVE_PRIME_FLANK/RP11-53O19.1_ENST00000505401.1_FIVE_PRIME_FLANK/RP11-53O19.1_ENST00000505637.1_FIVE_PRIME_FLANK/RP11-53O19.1_ENST00000508123.1_FIVE_PRIME_FLANK/RP11-53O19.1_ENST00000508945.1_FIVE_PRIME_FLANK/RP11-53O19.1_ENST00000514597.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||184|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||BC007735|NM_016640.3|NP_057724.2|HGNC:8769|mitochondrial_%20_ribosomal_%20_protein_%20_S30|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PDCD9||PAP||5p12|2016-10-05|2001-11-09||AF146192||10884|ENSG00000112996|10640817_%2C__%20_11279123|NM_016640|646|Mitochondrial_%20_ribosomal_%20_proteins|CCDS3951|OTTHUMG00000096967|10884|611991|NM_016640|Q9NP92|ENSG00000112996|uc003joh.4|RT30_HUMAN||Q96I91_%7C_Q96Q19_%7C_Q9H0P8_%7C_Q9NSF9_%7C_Q9NZ76|Q9NP92|apoptotic_%20_process_%20_(GO:0006915)_%7C_translation_%20_(GO:0006412)|mitochondrion_%20_(GO:0005739)_%7C_ribosome_%20_(GO:0005840)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_structural_%20_constituent_%20_of_%20_ribosome_%20_(GO:0003735)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 54329752 indel.84832 TAA T . PASS FUNCOTATION=[GZMK|hg19|chr5|54329753|54329754|NONSTOP||DEL|AA|AA|-|g.chr5:54329753_54329754delAA|ENST00000231009.2|+|5|863_864|c.794_795delAA|c.(793-795)taafs|p.*265fs|0.39800995024875624|CATACAAATTAAGTTACAAATA|CTD-2313F11.1_ENST00000609699.1_RNA/CTD-2313F11.1_ENST00000595218.1_RNA/CTD-2313F11.1_ENST00000596137.1_FIVE_PRIME_FLANK/CTD-2313F11.1_ENST00000609792.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U35237|NM_002104.2|NP_002095.1|HGNC:4711|granzyme_%20_K|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"granzyme_%20_K_%20_(serine_%20_protease_%2C__%20_granzyme_%20_3_%3B__%20_tryptase_%20_II)"_%2C__%20_"granzyme_%20_K_%20_(granzyme_%20_3_%3B__%20_tryptase_%20_II)"|TRYP2_%2C__%20_PRSS|"tryptase_%20_II"|5q11.2|2015-11-16||2015-11-16|BC035802||3003|ENSG00000113088|7758581|NM_002104|||CCDS3964|OTTHUMG00000097009|3003|600784|NM_002104|P49863|ENSG00000113088|uc003jpl.2|GRAK_HUMAN||B2R563|P49863||extracellular_%20_region_%20_(GO:0005576)|serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)_%7C_serine-type_%20_peptidase_%20_activity_%20_(GO:0008236)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 76342200 indel.85335 T TA . PASS FUNCOTATION=[AGGF1|hg19|chr5|76342200|76342201|FRAME_SHIFT_INS||INS|-|-|A|g.chr5:76342200_76342201insA|ENST00000312916.7|+|6|1281|c.899_900insA|c.(898-900)ttcfs|p.F300fs|0.3725|AAAAAGCCTTCAGTGTTGAA||||||||||||||||||||||||||140|biliary_tract(27)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_upper_aerodigestive_tract(1)|||||||U84971|NM_018046.4|NP_060516.2|HGNC:24684|angiogenic_%20_factor_%20_with_%20_G-patch_%20_and_%20_FHA_%20_domains_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||VG5Q_%2C__%20_HSU84971_%2C__%20_FLJ10283_%2C__%20_GPATC7_%2C__%20_GPATCH7||5q13.3|2015-11-13||2015-11-13|AK001145||55109|ENSG00000164252|18564129_%2C__%20_17103452|NM_018046|579|G-patch_%20_domain_%20_containing|CCDS4035|OTTHUMG00000102132|55109|608464|NM_018046|Q8N302|ENSG00000164252|uc003ket.4|AGGF1_HUMAN||O00581_%7C_Q53YS3_%7C_Q9BU84_%7C_Q9NW66|Q8N302|angiogenesis_%20_(GO:0001525)_%7C_cell_%20_adhesion_%20_(GO:0007155)_%7C_positive_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0045766)_%7C_positive_%20_regulation_%20_of_%20_endothelial_%20_cell_%20_proliferation_%20_(GO:0001938)_%7C_RNA_%20_processing_%20_(GO:0006396)_%7C_vasculogenesis_%20_(GO:0001570)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)|nucleic_%20_acid_%20_binding_%20_(GO:0003676)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 94785984 exm467542 T C . PASS FUNCOTATION=[FAM81B|hg19|chr5|94785984|94785984|NONSTOP||SNP|T|T|C|g.chr5:94785984T>C|ENST00000283357.5|+|10|1403|c.1357T>C|c.(1357-1359)Taa>Caa|p.*453Q|0.32418952618453867|CCAGGAAGTATAAACCTTTTC||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC034772|NM_152548.2|NP_689761.2|HGNC:26335|family_%20_with_%20_sequence_%20_similarity_%20_81_%20_member_%20_B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"family_%20_with_%20_sequence_%20_similarity_%20_81_%2C__%20_member_%20_B"|FLJ25333||5q15|2016-09-30||2015-11-18|||153643|ENSG00000153347||NM_152548|||CCDS43341|OTTHUMG00000162837|153643||NM_152548|Q96LP2|ENSG00000153347|uc003kla.2|FA81B_HUMAN|||Q96LP2||nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 101572564 exm469248 A G . PASS FUNCOTATION=[SLCO4C1|hg19|chr5|101572564|101572564|NONSTOP||SNP|A|A|G|g.chr5:101572564A>G|ENST00000310954.6|-|13|2460|c.2173T>C|c.(2173-2175)Tga>Cga|p.*725R|0.3192019950124688|TTCCCATTTCACCCTTCTTTT||||||||||||||||||||||||||211|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)_%7C_urinary_tract(1)|||||||CH471086|NM_180991.4|NP_851322.3|HGNC:23612|solute_%20_carrier_%20_organic_%20_anion_%20_transporter_%20_family_%20_member_%20_4C1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_organic_%20_anion_%20_transporter_%20_family_%2C__%20_member_%20_4C1"|SLC21A20_%2C__%20_OATP4C1_%2C__%20_OATPX_%2C__%20_OATP-H||5q21.1|2016-10-05||2015-11-18|AY273896||353189|ENSG00000173930||NM_180991|752|Solute_%20_carriers|CCDS34205|OTTHUMG00000162757|353189|609013|NM_180991|Q6ZQN7|ENSG00000173930|uc003knm.4|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 101631965 exm469338 A G . PASS FUNCOTATION=[SLCO4C1|hg19|chr5|101631965|101631965|START_CODON_SNP||SNP|A|A|G|g.chr5:101631965A>G|ENST00000310954.6|-|1|289|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6259351620947631|GGCGCTCTTCATGTCTGGATG||||||||||||||||||||||||||211|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)_%7C_urinary_tract(1)|||||||CH471086|NM_180991.4|NP_851322.3|HGNC:23612|solute_%20_carrier_%20_organic_%20_anion_%20_transporter_%20_family_%20_member_%20_4C1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_organic_%20_anion_%20_transporter_%20_family_%2C__%20_member_%20_4C1"|SLC21A20_%2C__%20_OATP4C1_%2C__%20_OATPX_%2C__%20_OATP-H||5q21.1|2016-10-05||2015-11-18|AY273896||353189|ENSG00000173930||NM_180991|752|Solute_%20_carriers|CCDS34205|OTTHUMG00000162757|353189|609013|NM_180991|Q6ZQN7|ENSG00000173930|uc003knm.4|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 115167503 exm472287 A T . PASS FUNCOTATION=[ATG12|hg19|chr5|115167503|115167503|NONSTOP||SNP|A|A|T|g.chr5:115167503A>T|ENST00000509910.1|-|4|727|c.421T>A|c.(421-423)Tga>Aga|p.*141R|0.34413965087281795|TTTGTGGTTCATCCCCACGCC|ATG12_ENST00000500945.2_THREE_PRIME_UTR/ATG12_ENST00000274459.4_NONSTOP_p.*188R/ATG12_ENST00000509598.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC012266|||HGNC:588|autophagy_%20_related_%20_12|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|APG12L|"Apg12_%20_(autophagy_%20_12_%2C__%20_S._%20_cerevisiae)-like"_%2C__%20_"APG12_%20_autophagy_%20_12-like_%20_(S._%20_cerevisiae)"_%2C__%20_"ATG12_%20_autophagy_%20_related_%20_12_%20_homolog_%20_(S._%20_cerevisiae)"|APG12|"APG12_%20_autophagy_%20_12-like"|5q22.3|2016-10-05|2005-09-11|2012-06-06|AB017507||9140|ENSG00000145782|9852036|NM_004707|1022|Autophagy_%20_related|CCDS4122_%2C__%20_CCDS64222|OTTHUMG00000128889|9140|609608|NM_001277783|O94817|ENSG00000145782|uc003krh.4|ATG12_HUMAN||Q6PJV2|O94817|autophagic_%20_vacuole_%20_assembly_%20_(GO:0000045)_%7C_C-terminal_%20_protein_%20_lipidation_%20_(GO:0006501)_%7C_cellular_%20_response_%20_to_%20_nitrogen_%20_starvation_%20_(GO:0006995)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_mitochondrion_%20_degradation_%20_(GO:0000422)_%7C_negative_%20_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032480)_%7C_nucleophagy_%20_(GO:0044804)|Atg12-Atg5-Atg16_%20_complex_%20_(GO:0034274)_%7C_pre-autophagosomal_%20_structure_%20_membrane_%20_(GO:0034045)|Atg8_%20_ligase_%20_activity_%20_(GO:0019776)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 118860923 indel.86141 C CAA . PASS FUNCOTATION=[HSD17B4|hg19|chr5|118860923|118860924|FRAME_SHIFT_INS||INS|-|-|AA|g.chr5:118860923_118860924insAA|ENST00000515320.1|+|17|1541|c.1462_1463insAA|c.(1462-1464)cgcfs|p.R488fs|0.2975|GCTTTGTACCGCCTCAGTGG|HSD17B4_ENST00000509514.1_FRAME_SHIFT_INS_p.R244fs/HSD17B4_ENST00000256216.6_FRAME_SHIFT_INS_p.R506fs/HSD17B4_ENST00000504811.1_FRAME_SHIFT_INS_p.R531fs/HSD17B4_ENST00000510025.1_FRAME_SHIFT_INS_p.R482fs/HSD17B4_ENST00000414835.2_FRAME_SHIFT_INS_p.R366fs/HSD17B4_ENST00000513628.1_FRAME_SHIFT_INS_p.R369fs/HSD17B4_ENST00000522415.1_INTRON|Colon(35_%3B_490_%20_801_%20_34689_%20_41394_%20_43344)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Y11393|NM_001199292.1|NP_001186221.1|HGNC:5213|hydroxysteroid_%20_17-beta_%20_dehydrogenase_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"hydroxysteroid_%20_(17-beta)_%20_dehydrogenase_%20_4"|MFE-2_%2C__%20_DBP_%2C__%20_SDR8C1|"17beta-estradiol_%20_dehydrogenase_%20_type_%20_IV"_%2C__%20_"peroxisomal_%20_multifunctional_%20_protein_%20_2"_%2C__%20_"17-beta-HSD_%20_IV"_%2C__%20_"17-beta-hydroxysteroid_%20_dehydrogenase_%20_4"_%2C__%20_"D-bifunctional_%20_protein_%2C__%20_peroxisomal"_%2C__%20_"D-3-hydroxyacyl-CoA_%20_dehydratase"_%2C__%20_"3-alpha_%2C_7-alpha_%2C_12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA_%20_hydratase"_%2C__%20_"beta-keto-reductase"_%2C__%20_"beta-hydroxyacyl_%20_dehydrogenase"_%2C__%20_"short_%20_chain_%20_dehydrogenase/reductase_%20_family_%20_8C_%2C__%20_member_%20_1"|5q23.1|2016-10-05||2016-06-03||4.2.1.107_%2C__%20_1.1.1.35|3295|ENSG00000133835|8938456_%2C__%20_19027726|NM_000414|743|Short_%20_chain_%20_dehydrogenase/reductase_%20_superfamily|CCDS4126_%2C__%20_CCDS56378_%2C__%20_CCDS56379_%2C__%20_CCDS78051_%2C__%20_CCDS78052|OTTHUMG00000128899|3295|601860|NM_000414|P51659|ENSG00000133835|uc003ksj.4|DHB4_HUMAN||B4DNV1_%7C_B4DVS5_%7C_E9PB82_%7C_F5HE57|P51659|alpha-linolenic_%20_acid_%20_metabolic_%20_process_%20_(GO:0036109)_%7C_androgen_%20_metabolic_%20_process_%20_(GO:0008209)_%7C_bile_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0006699)_%7C_bile_%20_acid_%20_metabolic_%20_process_%20_(GO:0008206)_%7C_cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_estrogen_%20_metabolic_%20_process_%20_(GO:0008210)_%7C_fatty_%20_acid_%20_beta-oxidation_%20_(GO:0006635)_%7C_fatty_%20_acid_%20_beta-oxidation_%20_using_%20_acyl-CoA_%20_oxidase_%20_(GO:0033540)_%7C_medium-chain_%20_fatty-acyl-CoA_%20_metabolic_%20_process_%20_(GO:0036112)_%7C_metabolic_%20_process_%20_(GO:0008152)_%7C_osteoblast_%20_differentiation_%20_(GO:0001649)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_Sertoli_%20_cell_%20_development_%20_(GO:0060009)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_unsaturated_%20_fatty_%20_acid_%20_metabolic_%20_process_%20_(GO:0033559)_%7C_very_%20_long-chain_%20_fatty_%20_acid_%20_metabolic_%20_process_%20_(GO:0000038)_%7C_very_%20_long-chain_%20_fatty-acyl-CoA_%20_metabolic_%20_process_%20_(GO:0036111)|intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrion_%20_(GO:0005739)_%7C_peroxisomal_%20_matrix_%20_(GO:0005782)_%7C_peroxisomal_%20_membrane_%20_(GO:0005778)_%7C_peroxisome_%20_(GO:0005777)|17-beta-hydroxysteroid_%20_dehydrogenase_%20_(NAD+)_%20_activity_%20_(GO:0044594)_%7C_3-hydroxyacyl-CoA_%20_dehydrogenase_%20_activity_%20_(GO:0003857)_%7C_3alpha_%2C_7alpha_%2C_12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA_%20_hydratase_%20_activity_%20_(GO:0033989)_%7C_isomerase_%20_activity_%20_(GO:0016853)_%7C_long-chain-enoyl-CoA_%20_hydratase_%20_activity_%20_(GO:0016508)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_receptor_%20_binding_%20_(GO:0005102)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 121297728 exm473453 A G . PASS FUNCOTATION=[SRFBP1|hg19|chr5|121297728|121297728|START_CODON_SNP||SNP|A|A|G|g.chr5:121297728A>G|ENST00000339397.4|+|1|73|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.57356608478803|TTCATCTACCATGGCTCAGCC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471086|NM_152546.2|NP_689759.2|HGNC:26333|serum_%20_response_%20_factor_%20_binding_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ25286_%2C__%20_p49_%2C__%20_STRAP_%2C__%20_BUD22_%2C__%20_Rlb1|"BUD22_%20_homolog_%20_(S._%20_cerevisiae)"|5q23.1|2016-10-25|||AK058015||153443|ENSG00000151304|15492011|NM_152546|||CCDS43354|OTTHUMG00000162970|153443|610479|NM_152546|Q8NEF9|ENSG00000151304|uc003kst.2|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 132208861 rs765760 C T . PASS FUNCOTATION=[LEAP2|hg19|chr5|132208861|132208861|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr5:132208861C>T|ENST00000296877.2|+|1|||||0.4339152119700748|AGCAAGTGGACGATCTGGGGA|LEAP2_ENST00000485457.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471062|NM_052971.2|NP_443203.1|HGNC:29571|liver_%20_enriched_%20_antimicrobial_%20_peptide_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"liver_%20_expressed_%20_antimicrobial_%20_peptide_%20_2"|LEAP-2||5q31.1|2016-07-11||2016-07-11|AJ409065_%2C__%20_BX443829||116842|ENSG00000164406|12493837|NM_052971|||CCDS4163|OTTHUMG00000059837|116842|611373|NM_052971|Q969E1|ENSG00000164406|uc003kyc.4|LEAP2_HUMAN||D3DQ91|Q969E1|defense_%20_response_%20_to_%20_bacterium_%20_(GO:0042742)|extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 135513085 newrs55765823 T TC . PASS FUNCOTATION=[SMAD5|hg19|chr5|135513085|135513086|SPLICE_SITE|FRAME_SHIFT_INS|INS|-|-|C|g.chr5:135513085_135513086insC|ENST00000545279.1|+|8|1674|c.1314_1315insC|c.(1315-1317)cttfs|p.L439fs|0.36|GATTGAGATTATCTTCATGG|SMAD5_ENST00000545620.1_SPLICE_SITE_p.L439fs/SMAD5_ENST00000514641.2_INTRON|||||||||||||||||||||||||278|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(188)_%7C_pancreas(22)|||||||U73825|NM_005903.5|NP_005894.3|HGNC:6771|SMAD_%20_family_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MADH5|"MAD_%2C__%20_mothers_%20_against_%20_decapentaplegic_%20_homolog_%20_5_%20_(Drosophila)"_%2C__%20_"SMAD_%2C__%20_mothers_%20_against_%20_DPP_%20_homolog_%20_5_%20_(Drosophila)"|Dwfc_%2C__%20_JV5-1||5q31.1|2016-10-25|2004-05-26|2006-11-06|U59913||4090|ENSG00000113658|8673135|NM_005903|750|SMAD_%20_family|CCDS75308|OTTHUMG00000163212|4090|603110|NM_001001419|Q99717|ENSG00000113658|uc032vlx.1|SMAD5_HUMAN||O14688_%7C_Q15798_%7C_Q9UQA1|Q99717|BMP_%20_signaling_%20_pathway_%20_(GO:0030509)_%7C_bone_%20_development_%20_(GO:0060348)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_cartilage_%20_development_%20_(GO:0051216)_%7C_cellular_%20_response_%20_to_%20_BMP_%20_stimulus_%20_(GO:0071773)_%7C_cellular_%20_response_%20_to_%20_organic_%20_cyclic_%20_compound_%20_(GO:0071407)_%7C_embryonic_%20_pattern_%20_specification_%20_(GO:0009880)_%7C_erythrocyte_%20_differentiation_%20_(GO:0030218)_%7C_germ_%20_cell_%20_development_%20_(GO:0007281)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_Mullerian_%20_duct_%20_regression_%20_(GO:0001880)_%7C_osteoblast_%20_fate_%20_commitment_%20_(GO:0002051)_%7C_positive_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045669)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_involved_%20_in_%20_cellular_%20_response_%20_to_%20_chemical_%20_stimulus_%20_(GO:1901522)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007179)_%7C_ureteric_%20_bud_%20_development_%20_(GO:0001657)|cytosol_%20_(GO:0005829)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intracellular_%20_(GO:0005622)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_protein_%20_complex_%20_(GO:0043234)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_receptor_%20_signaling_%20_protein_%20_activity_%20_(GO:0005057)_%7C_RNA_%20_polymerase_%20_II_%20_core_%20_promoter_%20_sequence-specific_%20_DNA_%20_binding_%20_(GO:0000979)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_receptor_%2C__%20_pathway-specific_%20_cytoplasmic_%20_mediator_%20_activity_%20_(GO:0030618)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 137451371 exm480022 T A . PASS FUNCOTATION=[NME5|hg19|chr5|137451371|137451371|NONSTOP||SNP|T|T|A|g.chr5:137451371T>A|ENST00000265191.2|-|6|688|c.638A>T|c.(637-639)tAa>tTa|p.*213L|0.26433915211970077|ATTTTTTTTTTAATAAGGTTC|RNU6-460P_ENST00000391158.1_FIVE_PRIME_FLANK/snoU13_ENST00000459094.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||115|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_upper_aerodigestive_tract(1)|||||||Y14992|NM_003551.2|NP_003542.1|HGNC:7853|NME/NM23_%20_family_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"non-metastatic_%20_cells_%20_5_%2C__%20_protein_%20_expressed_%20_in_%20_(nucleoside-diphosphate_%20_kinase)"|nm23-H5_%2C__%20_RSPH23|"radial_%20_spoke_%20_23_%20_homolog_%20_(Chlamydomonas)"|5q31.2|2014-11-19||2012-05-18|Y14992||8382|ENSG00000112981|9742940_%2C__%20_19852809|NM_003551|961|NME/NM23_%20_family|CCDS4197|OTTHUMG00000129207|8382|603575|NM_003551|P56597|ENSG00000112981|uc003lce.4|NDK5_HUMAN||B2R5G7|P56597|cilium_%20_assembly_%20_(GO:0042384)_%7C_CTP_%20_biosynthetic_%20_process_%20_(GO:0006241)_%7C_epithelial_%20_cilium_%20_movement_%20_(GO:0003351)_%7C_GTP_%20_biosynthetic_%20_process_%20_(GO:0006183)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1902176)_%7C_nucleoside_%20_metabolic_%20_process_%20_(GO:0009116)_%7C_spermatid_%20_development_%20_(GO:0007286)_%7C_spermatogenesis_%20_(GO:0007283)_%7C_UTP_%20_biosynthetic_%20_process_%20_(GO:0006228)_%7C_ventricular_%20_system_%20_development_%20_(GO:0021591)|sperm_%20_flagellum_%20_(GO:0036126)|ATP_%20_binding_%20_(GO:0005524)_%7C_nucleoside_%20_diphosphate_%20_kinase_%20_activity_%20_(GO:0004550)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 138210895 rs288036 C A . PASS FUNCOTATION=[LRRTM2|hg19|chr5|138210895|138210895|DE_NOVO_START_OUT_FRAME||SNP|C|C|A|g.chr5:138210895C>A|ENST00000518785.1|-|1|||||0.4314214463840399|CTTCAGTCTCCTTTCCGCAGC|LRRTM2_ENST00000521094.2_DE_NOVO_START_OUT_FRAME/CTNNA1_ENST00000518825.1_INTRON/LRRTM2_ENST00000274711.6_DE_NOVO_START_OUT_FRAME/CTNNA1_ENST00000302763.7_INTRON/CTNNA1_ENST00000355078.5_INTRON/CTNNA1_ENST00000540387.1_FIVE_PRIME_FLANK/CTNNA1_ENST00000520400.1_INTRON/LRRTM2_ENST00000523537.1_INTRON|||||||||||||||||||||||||||||||||AC011405|||HGNC:19409|leucine_%20_rich_%20_repeat_%20_transmembrane_%20_neuronal_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KIAA0416||5q31.2|2016-10-25|||AB007876||26045|ENSG00000146006|12676565||||CCDS47272|OTTHUMG00000163535|26045|610868|NM_015564|O43300|ENSG00000146006|uc011cyz.2|LRRT2_HUMAN||A0AVL3_%7C_A8K4U9_%7C_B7ZLN8_%7C_Q7L770|O43300|long-term_%20_synaptic_%20_potentiation_%20_(GO:0060291)_%7C_negative_%20_regulation_%20_of_%20_receptor_%20_internalization_%20_(GO:0002091)_%7C_synapse_%20_organization_%20_(GO:0050808)|cell_%20_junction_%20_(GO:0030054)_%7C_excitatory_%20_synapse_%20_(GO:0060076)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 139508064 exm481924 G A . PASS FUNCOTATION=[IGIP|hg19|chr5|139508064|139508064|START_CODON_SNP||SNP|G|G|A|g.chr5:139508064G>A|ENST00000333305.3|+|1|2544|c.3G>A|c.(1-3)atG>atA|p.M1I|0.35910224438902744|TATTAAATATGTGCAGTTATT||||||||||||||||||||||||||||||||||AC011379|NM_001007189.1|NP_001007190.1|HGNC:33847|IgA_%20_inducing_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C5orf53|"chromosome_%20_5_%20_open_%20_reading_%20_frame_%20_53"_%2C__%20_"IgA-inducing_%20_protein_%20_homolog_%20_(Bos_%20_taurus)"|LOC492311||5q31.3|2016-10-05|2011-09-22|2016-06-13|AB073888_%2C__%20_BC017422_%2C__%20_BC041380||492311|ENSG00000182700|19201837_%2C__%20_12874223_%2C__%20_21074276|NM_001007189|||CCDS34244|OTTHUMG00000163359|492311||NM_001007189|A6NJ69|ENSG00000182700|uc003lfb.2|IGIP_HUMAN|||A6NJ69||extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 140213970 exm484005 T G . PASS FUNCOTATION=[PCDHA7|hg19|chr5|140213970|140213970|START_CODON_SNP||SNP|T|T|G|g.chr5:140213970T>G|ENST00000525929.1|+|1|2|c.2T>G|c.(1-3)aTg>aGg|p.M1R|0.5087281795511222|TAATTTGAAATGGTGTGCCCG|PCDHA6_ENST00000529310.1_INTRON/PCDHA3_ENST00000522353.2_INTRON/PCDHA2_ENST00000526136.1_INTRON/PCDHA4_ENST00000530339.1_INTRON/PCDHA5_ENST00000529859.1_INTRON/PCDHA1_ENST00000504120.2_INTRON/PCDHA1_ENST00000394633.3_INTRON/PCDHA4_ENST00000512229.2_INTRON/PCDHA5_ENST00000529619.1_INTRON/PCDHA6_ENST00000527624.1_INTRON/PCDHA7_ENST00000378125.3_SPLICE_SITE_p.M1R|NSCLC(160_%3B_258_%20_2013_%20_5070_%20_22440_%20_28951)||||||||||||||||||||||||353|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(173)_%7C_lung(101)_%7C_pancreas(22)|||||||AF152485|NM_018910.2|NP_061733.1|HGNC:8673|protocadherin_%20_alpha_%20_7|Approved|complex_%20_locus_%20_constituent|other|CNRS4||CNR4_%2C__%20_CRNR4|"KIAA0345-like_%20_7"_%2C__%20_"ortholog_%20_to_%20_mouse_%20_CNR4"|5q31.3|2016-10-24|||AF152485||56141|ENSG00000204963|10380929_%2C__%20_10662547|NM_018910|20|Clustered_%20_protocadherins|CCDS54918|OTTHUMG00000163371|56141|606313|NM_018910|Q9UN72|ENSG00000204963|uc003lhq.2|PCDA7_HUMAN||O75282|Q9UN72|cell_%20_adhesion_%20_(GO:0007155)_%7C_homophilic_%20_cell_%20_adhesion_%20_(GO:0007156)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 140255770 indel.86893 A AC . PASS FUNCOTATION=[PCDHA12|hg19|chr5|140255770|140255771|FRAME_SHIFT_INS||INS|-|-|C|g.chr5:140255770_140255771insC|ENST00000398631.2|+|1|713|c.713_714insC|c.(712-714)aatfs|p.G239fs|0.3675|TGAATGACAATGGTCCGGCG|PCDHA9_ENST00000532602.1_INTRON/PCDHA6_ENST00000529310.1_INTRON/PCDHA3_ENST00000522353.2_INTRON/PCDHA8_ENST00000531613.1_INTRON/PCDHA11_ENST00000398640.2_INTRON/PCDHA10_ENST00000307360.5_INTRON/PCDHA2_ENST00000526136.1_INTRON/PCDHA4_ENST00000530339.1_INTRON/PCDHA7_ENST00000525929.1_INTRON/PCDHA5_ENST00000529859.1_INTRON/PCDHA1_ENST00000504120.2_INTRON/PCDHA1_ENST00000394633.3_INTRON/PCDHA4_ENST00000512229.2_INTRON/PCDHA5_ENST00000529619.1_INTRON/PCDHA10_ENST00000506939.2_INTRON/PCDHA6_ENST00000527624.1_INTRON|Pancreas(113_%3B_759_%20_1672_%20_13322_%20_24104_%20_50104)||||||||||||||||||||||||261|large_intestine(160)_%7C_lung(98)_%7C_oesophagus(1)_%7C_upper_aerodigestive_tract(2)|||||||BC113372|NM_031864.2|NP_114070.1|HGNC:8666|protocadherin_%20_alpha_%20_12|Approved|complex_%20_locus_%20_constituent|other|||PCDH-ALPHA12|"KIAA0345-like_%20_2"|5q31.3|2016-10-05|||AF152477||56137|ENSG00000251664|10380929|NM_018903|20|Clustered_%20_protocadherins|CCDS47285_%2C__%20_CCDS75327|OTTHUMG00000163366|56137|606318|NM_018903|Q9UN75|ENSG00000251664|uc003lic.4|PCDAC_HUMAN||O75278_%7C_Q2M1N8|Q9UN75|homophilic_%20_cell_%20_adhesion_%20_(GO:0007156)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 140503900 indel.86950 T TG . PASS FUNCOTATION=[PCDHB4|hg19|chr5|140503900|140503901|FRAME_SHIFT_INS||INS|-|-|G|g.chr5:140503900_140503901insG|ENST00000194152.1|+|1|2320|c.2320_2321insG|c.(2320-2322)ttgfs|p.L774fs|0.4975|CCTAATCTCTTGGTTCAGGA||||||||||||||||||||||||||470|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(173)_%7C_lung(98)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||BC098346|NM_018938.2|NP_061761.1|HGNC:8689|protocadherin_%20_beta_%20_4|Approved|protocadherin|other|||PCDH-BETA4||5q31.3|2016-10-05|||AF152497||56131|ENSG00000081818|10380929|NM_018938|20|Clustered_%20_protocadherins|CCDS4246|OTTHUMG00000129617|56131|606330|NM_018938|Q9Y5E5|ENSG00000081818|uc003lip.3|PCDB4_HUMAN||Q4V761|Q9Y5E5|calcium-dependent_%20_cell-cell_%20_adhesion_%20_(GO:0016339)_%7C_cell_%20_adhesion_%20_(GO:0007155)_%7C_homophilic_%20_cell_%20_adhesion_%20_(GO:0007156)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_synapse_%20_assembly_%20_(GO:0007416)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|cytoplasm_%20_(GO:0005737)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 140529841 exm2089280 G A . PASS FUNCOTATION=[PCDHB6|hg19|chr5|140529841|140529841|START_CODON_SNP||SNP|G|G|A|g.chr5:140529841G>A|ENST00000231136.1|+|1|3|c.3G>A|c.(1-3)atG>atA|p.M1I|0.4613466334164589|TAATAGACATGATGCAAACTA|PCDHB6_ENST00000543635.1_FIVE_PRIME_UTR|||||||||||||||||||||||||351|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(171)_%7C_lung(101)_%7C_pancreas(22)|||||||AF217752|NM_018939.2|NP_061762.1|HGNC:8691|protocadherin_%20_beta_%20_6|Approved|protocadherin|other|||PCDH-BETA6||5q31.3|2016-10-05|||AF152499||56130|ENSG00000113211|10380929|NM_018939|20|Clustered_%20_protocadherins|CCDS4248_%2C__%20_CCDS78067|OTTHUMG00000129623|56130|606332|NM_001303145|Q9Y5E3|ENSG00000113211|uc003lir.4|PCDB6_HUMAN||B2R8R9|Q9Y5E3|calcium-dependent_%20_cell-cell_%20_adhesion_%20_(GO:0016339)_%7C_cell_%20_adhesion_%20_(GO:0007155)_%7C_homophilic_%20_cell_%20_adhesion_%20_(GO:0007156)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_synapse_%20_assembly_%20_(GO:0007416)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 140596092 exm487247 A G . PASS FUNCOTATION=[PCDHB13|hg19|chr5|140596092|140596092|NONSTOP||SNP|A|A|G|g.chr5:140596092A>G|ENST00000341948.4|+|1|2584|c.2397A>G|c.(2395-2397)tgA>tgG|p.*799W|0.41895261845386533|ATATTCAGTGACCATAGTTGA||||||||||||||||||||||||||418|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_large_intestine(172)_%7C_lung(99)_%7C_pancreas(22)|||||||BC071934|NM_018933.2|NP_061756.1|HGNC:8684|protocadherin_%20_beta_%20_13|Approved|protocadherin|other|||PCDH-BETA13||5q31.3|2016-10-05|||AF152492||56123|ENSG00000187372|10380929|NM_018933|20|Clustered_%20_protocadherins|CCDS4255|OTTHUMG00000129615|56123|606339|NM_018933|Q9Y5F0|ENSG00000187372|uc003lja.3|PCDBD_HUMAN||A8K9V6|Q9Y5F0|calcium-dependent_%20_cell-cell_%20_adhesion_%20_(GO:0016339)_%7C_homophilic_%20_cell_%20_adhesion_%20_(GO:0007156)_%7C_synapse_%20_assembly_%20_(GO:0007416)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 142814699 kgp22176342 A C . PASS FUNCOTATION=[NR3C1|hg19|chr5|142814699|142814699|DE_NOVO_START_IN_FRAME||SNP|A|A|C|g.chr5:142814699A>C|ENST00000343796.2|-|1|||||0.428927680798005|AAACTAAATGAATGCGTGCAT|NR3C1_ENST00000504572.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||650|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(452)_%7C_kidney(108)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X03348|NM_001018077.1|NP_001191194.1|HGNC:7978|nuclear_%20_receptor_%20_subfamily_%20_3_%20_group_%20_C_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GRL|"nuclear_%20_receptor_%20_subfamily_%20_3_%2C__%20_group_%20_C_%2C__%20_member_%20_1"_%2C__%20_"nuclear_%20_receptor_%20_subfamily_%20_3_%2C__%20_group_%20_C_%2C__%20_member_%20_1_%20_(glucocorticoid_%20_receptor)"|GR|"glucocorticoid_%20_receptor"|5q31.3|2016-10-05||2015-11-18|X03225||2908|ENSG00000113580|2867473||71|Nuclear_%20_hormone_%20_receptors|CCDS4278_%2C__%20_CCDS34258_%2C__%20_CCDS47298|OTTHUMG00000129677|2908|138040|NM_000176|P04150|ENSG00000113580|uc003lnd.3|GCR_HUMAN|Alclometasone(DB00240)_%7C_Amcinonide(DB00288)_%7C_Beclomethasone(DB00394)_%7C_Betamethasone(DB00443)_%7C_Budesonide(DB01222)_%7C_Ciclesonide(DB01410)_%7C_Clobetasol_%20_propionate(DB01013)_%7C_Clocortolone(DB00838)_%7C_Cortisone_%20_acetate(DB01380)_%7C_Desonide(DB01260)_%7C_Desoximetasone(DB00547)_%7C_Dexamethasone(DB01234)_%7C_Diflorasone(DB00223)_%7C_Difluprednate(DB06781)_%7C_Fludrocortisone(DB00687)_%7C_Flumethasone_%20_Pivalate(DB00663)_%7C_Flunisolide(DB00180)_%7C_Fluocinolone_%20_Acetonide(DB00591)_%7C_Fluocinonide(DB01047)_%7C_Fluorometholone(DB00324)_%7C_Fluoxymesterone(DB01185)_%7C_Flurandrenolide(DB00846)_%7C_Fluticasone_%20_furoate(DB08906)_%7C_Fluticasone_%20_Propionate(DB00588)_%7C_Halobetasol_%20_Propionate(DB00596)_%7C_Hydrocortamate(DB00769)_%7C_Hydrocortisone(DB00741)_%7C_Loteprednol(DB00873)_%7C_Medrysone(DB00253)_%7C_Megestrol_%20_acetate(DB00351)_%7C_Methylprednisolone(DB00959)_%7C_Mifepristone(DB00834)_%7C_Mometasone(DB00764)_%7C_Paramethasone(DB01384)_%7C_Prednicarbate(DB01130)_%7C_Prednisolone(DB00860)_%7C_Prednisone(DB00635)_%7C_Rimexolone(DB00896)_%7C_Spironolactone(DB00421)_%7C_Triamcinolone(DB00620)|A0ZXF9_%7C_B0LPG8_%7C_D3DQF4_%7C_P04151_%7C_Q53EP5_%7C_Q6N0A4|P04150|adrenal_%20_gland_%20_development_%20_(GO:0030325)_%7C_chromatin_%20_modification_%20_(GO:0016568)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_glucocorticoid_%20_metabolic_%20_process_%20_(GO:0008211)_%7C_mammary_%20_gland_%20_duct_%20_morphogenesis_%20_(GO:0060603)_%7C_negative_%20_regulation_%20_of_%20_glucocorticoid_%20_mediated_%20_signaling_%20_pathway_%20_(GO:1900170)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_regulation_%20_of_%20_glucocorticoid_%20_biosynthetic_%20_process_%20_(GO:0031946)_%7C_regulation_%20_of_%20_gluconeogenesis_%20_(GO:0006111)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006366)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|glucocorticoid_%20_receptor_%20_activity_%20_(GO:0004883)_%7C_RNA_%20_polymerase_%20_II_%20_core_%20_promoter_%20_proximal_%20_region_%20_sequence-specific_%20_DNA_%20_binding_%20_(GO:0000978)_%7C_RNA_%20_polymerase_%20_II_%20_core_%20_promoter_%20_proximal_%20_region_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_involved_%20_in_%20_positive_%20_regulation_%20_of_%20_transcription_%20_(GO:0001077)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_steroid_%20_binding_%20_(GO:0005496)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 142815041 kgp22485205 C A . PASS FUNCOTATION=[NR3C1|hg19|chr5|142815041|142815041|DE_NOVO_START_OUT_FRAME||SNP|C|C|A|g.chr5:142815041C>A|ENST00000343796.2|-|1|||||0.4114713216957606|GAAGAGGTACCTTTTGAATGG|NR3C1_ENST00000504572.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||650|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(452)_%7C_kidney(108)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X03348|NM_001018077.1|NP_001191194.1|HGNC:7978|nuclear_%20_receptor_%20_subfamily_%20_3_%20_group_%20_C_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GRL|"nuclear_%20_receptor_%20_subfamily_%20_3_%2C__%20_group_%20_C_%2C__%20_member_%20_1"_%2C__%20_"nuclear_%20_receptor_%20_subfamily_%20_3_%2C__%20_group_%20_C_%2C__%20_member_%20_1_%20_(glucocorticoid_%20_receptor)"|GR|"glucocorticoid_%20_receptor"|5q31.3|2016-10-05||2015-11-18|X03225||2908|ENSG00000113580|2867473||71|Nuclear_%20_hormone_%20_receptors|CCDS4278_%2C__%20_CCDS34258_%2C__%20_CCDS47298|OTTHUMG00000129677|2908|138040|NM_000176|P04150|ENSG00000113580|uc003lnd.3|GCR_HUMAN|Alclometasone(DB00240)_%7C_Amcinonide(DB00288)_%7C_Beclomethasone(DB00394)_%7C_Betamethasone(DB00443)_%7C_Budesonide(DB01222)_%7C_Ciclesonide(DB01410)_%7C_Clobetasol_%20_propionate(DB01013)_%7C_Clocortolone(DB00838)_%7C_Cortisone_%20_acetate(DB01380)_%7C_Desonide(DB01260)_%7C_Desoximetasone(DB00547)_%7C_Dexamethasone(DB01234)_%7C_Diflorasone(DB00223)_%7C_Difluprednate(DB06781)_%7C_Fludrocortisone(DB00687)_%7C_Flumethasone_%20_Pivalate(DB00663)_%7C_Flunisolide(DB00180)_%7C_Fluocinolone_%20_Acetonide(DB00591)_%7C_Fluocinonide(DB01047)_%7C_Fluorometholone(DB00324)_%7C_Fluoxymesterone(DB01185)_%7C_Flurandrenolide(DB00846)_%7C_Fluticasone_%20_furoate(DB08906)_%7C_Fluticasone_%20_Propionate(DB00588)_%7C_Halobetasol_%20_Propionate(DB00596)_%7C_Hydrocortamate(DB00769)_%7C_Hydrocortisone(DB00741)_%7C_Loteprednol(DB00873)_%7C_Medrysone(DB00253)_%7C_Megestrol_%20_acetate(DB00351)_%7C_Methylprednisolone(DB00959)_%7C_Mifepristone(DB00834)_%7C_Mometasone(DB00764)_%7C_Paramethasone(DB01384)_%7C_Prednicarbate(DB01130)_%7C_Prednisolone(DB00860)_%7C_Prednisone(DB00635)_%7C_Rimexolone(DB00896)_%7C_Spironolactone(DB00421)_%7C_Triamcinolone(DB00620)|A0ZXF9_%7C_B0LPG8_%7C_D3DQF4_%7C_P04151_%7C_Q53EP5_%7C_Q6N0A4|P04150|adrenal_%20_gland_%20_development_%20_(GO:0030325)_%7C_chromatin_%20_modification_%20_(GO:0016568)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_glucocorticoid_%20_metabolic_%20_process_%20_(GO:0008211)_%7C_mammary_%20_gland_%20_duct_%20_morphogenesis_%20_(GO:0060603)_%7C_negative_%20_regulation_%20_of_%20_glucocorticoid_%20_mediated_%20_signaling_%20_pathway_%20_(GO:1900170)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_regulation_%20_of_%20_glucocorticoid_%20_biosynthetic_%20_process_%20_(GO:0031946)_%7C_regulation_%20_of_%20_gluconeogenesis_%20_(GO:0006111)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006366)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|glucocorticoid_%20_receptor_%20_activity_%20_(GO:0004883)_%7C_RNA_%20_polymerase_%20_II_%20_core_%20_promoter_%20_proximal_%20_region_%20_sequence-specific_%20_DNA_%20_binding_%20_(GO:0000978)_%7C_RNA_%20_polymerase_%20_II_%20_core_%20_promoter_%20_proximal_%20_region_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_involved_%20_in_%20_positive_%20_regulation_%20_of_%20_transcription_%20_(GO:0001077)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_steroid_%20_binding_%20_(GO:0005496)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 147665609 exm492891 T C . PASS FUNCOTATION=[SPINK13|hg19|chr5|147665609|147665609|NONSTOP||SNP|T|T|C|g.chr5:147665609T>C|ENST00000512953.1|+|6|814|c.283T>C|c.(283-285)Taa>Caa|p.*95Q|0.2892768079800499|AAAATGTGATTAATGGGTACC|SPINK13_ENST00000511106.1_NONSTOP_p.*55Q/SPINK13_ENST00000398450.4_NONSTOP_p.*95Q/RP11-373N22.3_ENST00000501695.3_RNA|||||||||||||||||||||||||22|central_nervous_system(22)|||||||DQ438947|||HGNC:27200|serine_%20_peptidase_%20_inhibitor_%2C__%20_Kazal_%20_type_%20_13_%20_(putative)|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SPINK5L3_%2C__%20_LiESP6_%2C__%20_HESPINTOR_%2C__%20_MGC149260||5q32|2016-10-31|||||153218|ENSG00000214510|23430248|NM_001040129.2|740|Serine_%20_peptidase_%20_inhibitors_%2C__%20_Kazal_%20_type|CCDS43383|OTTHUMG00000163426|153218|615205|NM_001040129|Q1W4C9|ENSG00000214510|uc003lpc.4|ISK13_HUMAN||A1A4Y2|Q1W4C9|negative_%20_regulation_%20_of_%20_acrosome_%20_reaction_%20_(GO:1902225)|extracellular_%20_region_%20_(GO:0005576)|serine-type_%20_endopeptidase_%20_inhibitor_%20_activity_%20_(GO:0004867)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 153409127 indel.87683 G GA . PASS FUNCOTATION=[FAM114A2|hg19|chr5|153409127|153409128|FRAME_SHIFT_INS||INS|-|-|A|g.chr5:153409127_153409128insA|ENST00000351797.4|-|5|494|c.416_417insT|c.(415-417)gccfs|p.K140fs|0.3875|ATTCTCTTTGGCATTTGTCT|FAM114A2_ENST00000522858.1_FRAME_SHIFT_INS_p.K140fs/FAM114A2_ENST00000520667.1_FRAME_SHIFT_INS_p.K140fs/FAM114A2_ENST00000520313.1_FRAME_SHIFT_INS_p.K70fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471062|NM_018691.2|NP_061161.2|HGNC:1333|family_%20_with_%20_sequence_%20_similarity_%20_114_%20_member_%20_A2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C5orf3|"chromosome_%20_5_%20_open_%20_reading_%20_frame_%20_3"_%2C__%20_"family_%20_with_%20_sequence_%20_similarity_%20_114_%2C__%20_member_%20_A2"|133K02||5q33.2|2017-07-12|2008-06-13|2015-11-18|AF159700||10827|ENSG00000055147|10843801|NM_018691|||CCDS4323_%2C__%20_CCDS83036|OTTHUMG00000130147|10827||NM_001317993|Q9NRY5|ENSG00000055147|uc003lvc.5|F1142_HUMAN||B2R8D8_%7C_Q9H7E0|Q9NRY5|||purine_%20_nucleotide_%20_binding_%20_(GO:0017076)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 169675703 exm2094972 A G . PASS FUNCOTATION=[LCP2|hg19|chr5|169675703|169675703|NONSTOP||SNP|A|A|G|g.chr5:169675703A>G|ENST00000046794.5|-|21|2216|c.1600T>C|c.(1600-1602)Tag>Cag|p.*534Q|0.4114713216957606|ATAACTTGCTATGGGTACCCT|LCP2_ENST00000521416.1_NONSTOP_p.*329Q/C5orf58_ENST00000517575.1_INTRON|||||||||||||||||||||||||23|breast(1)_%7C_central_nervous_system(22)|||||||U20158|NM_005565.3|NP_005556.1|HGNC:6529|lymphocyte_%20_cytosolic_%20_protein_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SLP76|"lymphocyte_%20_cytosolic_%20_protein_%20_2_%20_(SH2_%20_domain-containing_%20_leukocyte_%20_protein_%20_of_%20_76kD)"_%2C__%20_"lymphocyte_%20_cytosolic_%20_protein_%20_2_%20_(SH2_%20_domain_%20_containing_%20_leukocyte_%20_protein_%20_of_%20_76kDa)"|SLP-76|"76_%20_kDa_%20_tyrosine_%20_phosphoprotein"_%2C__%20_"SH2_%20_domain-containing_%20_leukocyte_%20_protein_%20_of_%20_76kD"|5q35.1|2015-11-10||2015-11-10|||3937|ENSG00000043462|7706237|NM_005565|741|SH2_%20_domain_%20_containing|CCDS47339|OTTHUMG00000163121|3937|601603|NM_005565|Q13094|ENSG00000043462|uc003man.2|LCP2_HUMAN||A8KA25_%7C_Q53XV4|Q13094|blood_%20_coagulation_%20_(GO:0007596)_%7C_cytokine_%20_secretion_%20_(GO:0050663)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_mast_%20_cell_%20_activation_%20_(GO:0045576)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_transmembrane_%20_receptor_%20_protein_%20_tyrosine_%20_kinase_%20_signaling_%20_pathway_%20_(GO:0007169)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytosol_%20_(GO:0005829)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 176943944 exm507743 C T . PASS FUNCOTATION=[DDX41|hg19|chr5|176943944|176943944|START_CODON_SNP||SNP|C|C|T|g.chr5:176943944C>T|ENST00000507955.1|-|1|527|c.3G>A|c.(1-3)atG>atA|p.M1I|0.6384039900249376|CCGACTCCTCCATTCTTTGCT|DDX41_ENST00000506965.1_INTRON|||||||||||||||||||||||||381|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(198)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471195|NM_016222.2|NP_057306.2|HGNC:18674|DEAD-box_%20_helicase_%20_41|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DEAD_%20_(Asp-Glu-Ala-Asp)_%20_box_%20_polypeptide_%20_41"|ABS_%2C__%20_MGC8828||5q35.3|2016-01-07||2016-01-07|AF195417||51428|ENSG00000183258|10607561|NM_016222|1516_%7C_499_%7C_1510|Spliceosomal_%20_P_%20_complex_%7C_DEAD-box_%20_helicases_%7C_Spliceosomal_%20_C_%20_complex|CCDS4427|OTTHUMG00000130858|51428|608170|NM_001321732|Q9UJV9|ENSG00000183258|uc003mho.4|DDX41_HUMAN||B2RDC8_%7C_Q96BK6_%7C_Q96K05_%7C_Q9NT96_%7C_Q9NW04|Q9UJV9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_interferon-beta_%20_(GO:0035458)_%7C_defense_%20_response_%20_to_%20_virus_%20_(GO:0051607)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_mRNA_%20_splicing_%2C__%20_via_%20_spliceosome_%20_(GO:0000398)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032481)_%7C_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032479)_%7C_RNA_%20_processing_%20_(GO:0006396)|catalytic_%20_step_%20_2_%20_spliceosome_%20_(GO:0071013)_%7C_cytosol_%20_(GO:0005829)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_membrane_%20_(GO:0016020)|ATP_%20_binding_%20_(GO:0005524)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_helicase_%20_activity_%20_(GO:0004386)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 180167058 exm511288 T A . PASS FUNCOTATION=[OR2Y1|hg19|chr5|180167058|180167058|START_CODON_SNP||SNP|T|T|A|g.chr5:180167058T>A|ENST00000307832.2|-|1|42|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.4389027431421446|AAACTTCCCATGGCCTTTTGC||||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471165|NM_001001657.1|NP_001001657.1|HGNC:14837|olfactory_%20_receptor_%20_family_%20_2_%20_subfamily_%20_Y_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"olfactory_%20_receptor_%2C__%20_family_%20_2_%2C__%20_subfamily_%20_Y_%2C__%20_member_%20_1"|||5q35.3|2016-10-05||2015-12-09|AB065676||134083|ENSG00000174339||XM_068682|149|Olfactory_%20_receptors_%2C__%20_family_%20_2|CCDS34323|OTTHUMG00000162237|134083||NM_001001657|Q8NGV0|ENSG00000174339|uc003mmf.2|OR2Y1_HUMAN||B9EIP1_%7C_Q6IFB1_%7C_Q96R16|Q8NGV0||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +5 180622167 exm511746 C G . PASS FUNCOTATION=[TRIM7|hg19|chr5|180622167|180622167|NONSTOP||SNP|C|C|G|g.chr5:180622167C>G|ENST00000274773.7|-|7|1597|c.1535G>C|c.(1534-1536)tGa>tCa|p.*512S|0.6583541147132169|CAGTGCCCCTCAAGGCCAGAT|TRIM7_ENST00000393315.1_NONSTOP_p.*304S/TRIM7_ENST00000361809.3_NONSTOP_p.*304S/TRIM7_ENST00000393319.3_NONSTOP_p.*330S/TRIM7_ENST00000422067.2_NONSTOP_p.*304S/TRIM7_ENST00000504241.1_INTRON/CTC-338M12.6_ENST00000419707.2_FIVE_PRIME_FLANK/CTC-338M12.6_ENST00000502812.2_FIVE_PRIME_FLANK/CTC-338M12.6_ENST00000509080.1_FIVE_PRIME_FLANK/CTC-338M12.6_ENST00000511517.1_FIVE_PRIME_FLANK/CTC-338M12.6_ENST00000512508.1_FIVE_PRIME_FLANK/CTC-338M12.2_ENST00000513771.1_FIVE_PRIME_FLANK|Esophageal_%20_Squamous(128_%3B_2258_%20_2308_%20_35507_%20_48647)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471165|NM_203293.2|NP_976038.1|HGNC:16278|tripartite_%20_motif_%20_containing_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tripartite_%20_motif-containing_%20_7"|RNF90_%2C__%20_GNIP|"glycogenin-interacting_%20_protein"_%2C__%20_"tripartite_%20_motif_%20_protein_%20_TRIM7"|5q35.3|2014-11-19||2011-01-25|AF220032||81786|ENSG00000146054|11331580|NM_203296|58_%7C_59|Ring_%20_finger_%20_proteins_%7C_Tripartite_%20_motif_%20_containing|CCDS4462_%2C__%20_CCDS4463_%2C__%20_CCDS4464_%2C__%20_CCDS43414|OTTHUMG00000130963|81786|609315|NM_033342|Q9C029|ENSG00000146054|uc003mmz.3|TRIM7_HUMAN||A2RUE4_%7C_D3DWR7_%7C_Q969F5_%7C_Q96F67_%7C_Q96J89_%7C_Q96J90|Q9C029||cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 4068932 exm513626 A G . PASS FUNCOTATION=[FAM217A|hg19|chr6|4068932|4068932|NONSTOP||SNP|A|A|G|g.chr6:4068932A>G|ENST00000274673.3|-|7|1929|c.1525T>C|c.(1525-1527)Taa>Caa|p.*509Q|0.3790523690773067|GAAAAGAGTTATTTTTGTTCA|FAM217A_ENST00000380188.2_INTRON|||||||||||||||||||||||||||||||||BC039349|NM_173563.2|NP_775834.2|HGNC:21362|family_%20_with_%20_sequence_%20_similarity_%20_217_%20_member_%20_A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C6orf146|"chromosome_%20_6_%20_open_%20_reading_%20_frame_%20_146"_%2C__%20_"family_%20_with_%20_sequence_%20_similarity_%20_217_%2C__%20_member_%20_A"|MGC43581||6p25.2|2016-10-05|2012-02-07|2015-11-18|BC039349||222826|ENSG00000145975||NM_173563|||CCDS4489|OTTHUMG00000014159|222826||NM_173563|Q8IXS0|ENSG00000145975|uc003mvx.4|F217A_HUMAN||Q5JYK1|Q8IXS0|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 6251131 indel.88686 T TC . PASS FUNCOTATION=[F13A1|hg19|chr6|6251131|6251132|FRAME_SHIFT_INS||INS|-|-|C|g.chr6:6251131_6251132insC|ENST00000264870.3|-|5|869|c.602_603insG|c.(601-603)gaafs|p.R202fs|0.355|CTCTTCTCTTTCTTTCTCAT||||||||||||||||||||||||||93|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(3)_%7C_pancreas(22)|||||||M22001|NM_000129.3|NP_000120.2|HGNC:3531|coagulation_%20_factor_%20_XIII_%20_A_%20_chain|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|F13A|"coagulation_%20_factor_%20_XIII_%2C__%20_A1_%20_polypeptide"|||6p25.1|2017-03-24||2016-01-15|M14539||2162|ENSG00000124491||NM_000129|773|Transglutaminases|CCDS4496|OTTHUMG00000014186|2162|134570|NM_000129|P00488|ENSG00000124491|uc003mwv.4|F13A_HUMAN|L-Glutamine(DB00130)|Q59HA7_%7C_Q8N6X2_%7C_Q96P24_%7C_Q9BX29|P00488|blood_%20_coagulation_%20_(GO:0007596)_%7C_peptide_%20_cross-linking_%20_(GO:0018149)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_platelet_%20_degranulation_%20_(GO:0002576)|blood_%20_microparticle_%20_(GO:0072562)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_platelet_%20_alpha_%20_granule_%20_lumen_%20_(GO:0031093)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_protein-glutamine_%20_gamma-glutamyltransferase_%20_activity_%20_(GO:0003810)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 18149358 rs9333569 T C . PASS FUNCOTATION=[TPMT|hg19|chr6|18149358|18149358|START_CODON_SNP||SNP|T|T|C|g.chr6:18149358T>C|ENST00000309983.4|-|2|87|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.34663341645885287|GTACCATCCATAGTTTCAGAG||Colon(190_%3B_1381_%20_2791_%20_16728_%20_32493)||||||||||||||||||||||||214|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(61)_%7C_large_intestine(21)_%7C_pancreas(22)_%7C_skin(73)_%7C_soft_tissue(24)|||||||U81573|NM_000367.2|NP_000358.1|HGNC:12014|thiopurine_%20_S-methyltransferase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||6p22.3|2017-03-24||||2.1.1.67|7172|ENSG00000137364|8316220||1400|Seven-beta-strand_%20_methyltransferase_%20_motif_%20_containing|CCDS4543|OTTHUMG00000014317|7172|187680|NM_000367|P51580|ENSG00000137364|uc003ncm.4|TPMT_HUMAN|Azathioprine(DB00993)_%7C_Bendroflumethiazide(DB00436)_%7C_Cefazolin(DB01327)_%7C_Mercaptopurine(DB01033)_%7C_Olsalazine(DB01250)_%7C_Trichlormethiazide(DB01021)|O14806_%7C_O15423_%7C_O15424_%7C_O15425_%7C_O15426_%7C_O15515_%7C_O15548_%7C_O43213_%7C_Q5VUK6_%7C_Q9UBE6_%7C_Q9UBT8_%7C_Q9UE62|P51580|methylation_%20_(GO:0032259)_%7C_nucleobase-containing_%20_compound_%20_metabolic_%20_process_%20_(GO:0006139)_%7C_response_%20_to_%20_testosterone_%20_(GO:0033574)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|thiopurine_%20_S-methyltransferase_%20_activity_%20_(GO:0008119)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 24403275 exm519703 A G . PASS FUNCOTATION=[MRS2|hg19|chr6|24403275|24403275|START_CODON_SNP||SNP|A|A|G|g.chr6:24403275A>G|ENST00000378386.3|+|1|94|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6758104738154613|CTCCAGCACCATGGAATGCCT|MRS2_ENST00000378353.1_START_CODON_SNP_p.M1V/MRS2_ENST00000274747.7_START_CODON_SNP_p.M1V/MRS2_ENST00000535061.1_START_CODON_SNP_p.M1V/MRS2_ENST00000443868.2_START_CODON_SNP_p.M1V/MRS2_ENST00000543597.1_FIVE_PRIME_UTR/MRS2_ENST00000483634.1_INTRON|||||||||||||||||||||||||69|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471087|NM_020662.2|NP_065713.1|HGNC:13785|MRS2_%2C__%20_magnesium_%20_transporter|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MRS2L|"MRS2-like_%2C__%20_magnesium_%20_homeostasis_%20_factor_%20_(S._%20_cerevisiae)"_%2C__%20_"MRS2_%20_magnesium_%20_homeostasis_%20_factor_%20_homolog_%20_(S._%20_cerevisiae)"|||6p22.3|2016-10-05|2008-01-18|2015-11-27|AF288288||57380|ENSG00000124532|||||CCDS4552_%2C__%20_CCDS69055_%2C__%20_CCDS69056_%2C__%20_CCDS75408|OTTHUMG00000014355|57380||NM_001286264|Q9HD23|ENSG00000124532|uc003neb.5|MRS2_HUMAN||A8K4U3_%7C_B3KNN2_%7C_B4DQL2_%7C_Q5T3Y1_%7C_Q6NTG4_%7C_Q96KF8_%7C_Q9BVP1|Q9HD23||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)|magnesium_%20_ion_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015095)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 24533938 exm520091 T C . PASS FUNCOTATION=[ALDH5A1|hg19|chr6|24533938|24533938|NONSTOP||SNP|T|T|C|g.chr6:24533938T>C|ENST00000491546.1|+|9|1652|c.1522T>C|c.(1522-1524)Tag>Cag|p.*508Q|0.428927680798005|CGGGGGCTTGTAGGATTCTTT|ALDH5A1_ENST00000357578.3_NONSTOP_p.*536Q/ALDH5A1_ENST00000348925.2_NONSTOP_p.*549Q/ALDH5A1_ENST00000546278.1_NONSTOP_p.*448Q|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||AL031230|||HGNC:408|aldehyde_%20_dehydrogenase_%20_5_%20_family_%20_member_%20_A1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"aldehyde_%20_dehydrogenase_%20_5_%20_family_%2C__%20_member_%20_A1"|SSADH_%2C__%20_SSDH|"succinate-semialdehyde_%20_dehydrogenase"|6p22.3|2016-10-05||2015-11-18|L34820|1.2.1.24|7915|ENSG00000112294|7814412_%2C__%20_9059628||398|Aldehyde_%20_dehydrogenases|CCDS4555_%2C__%20_CCDS4556|OTTHUMG00000014356|7915|610045|NM_001080|P51649|ENSG00000112294|uc003neg.4|SSDH_HUMAN|Chlormerodrin(DB00534)_%7C_Succinic_%20_acid(DB00139)_%7C_Valproic_%20_Acid(DB00313)|B2RD26_%7C_G5E949_%7C_Q546H9_%7C_Q8N3W6|P51649|acetate_%20_metabolic_%20_process_%20_(GO:0006083)_%7C_central_%20_nervous_%20_system_%20_development_%20_(GO:0007417)_%7C_galactosylceramide_%20_metabolic_%20_process_%20_(GO:0006681)_%7C_gamma-aminobutyric_%20_acid_%20_catabolic_%20_process_%20_(GO:0009450)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_glucosylceramide_%20_metabolic_%20_process_%20_(GO:0006678)_%7C_glutamate_%20_metabolic_%20_process_%20_(GO:0006536)_%7C_glutamine_%20_metabolic_%20_process_%20_(GO:0006541)_%7C_glutathione_%20_metabolic_%20_process_%20_(GO:0006749)_%7C_glycerophospholipid_%20_metabolic_%20_process_%20_(GO:0006650)_%7C_neurotransmitter_%20_catabolic_%20_process_%20_(GO:0042135)_%7C_neurotransmitter_%20_secretion_%20_(GO:0007269)_%7C_post-embryonic_%20_development_%20_(GO:0009791)_%7C_protein_%20_homotetramerization_%20_(GO:0051289)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_short-chain_%20_fatty_%20_acid_%20_metabolic_%20_process_%20_(GO:0046459)_%7C_succinate_%20_metabolic_%20_process_%20_(GO:0006105)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_mitochondrion_%20_(GO:0005739)|protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_succinate-semialdehyde_%20_dehydrogenase_%20_(NAD+)_%20_activity_%20_(GO:0004777)_%7C_succinate-semialdehyde_%20_dehydrogenase_%20_[NAD(P)+]_%20_activity_%20_(GO:0009013)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 24701770 indel.89060 C CG . PASS FUNCOTATION=[ACOT13|hg19|chr6|24701770|24701771|FRAME_SHIFT_INS||INS|-|-|G|g.chr6:24701770_24701771insG|ENST00000230048.4|+|3|543|c.350_351insG|c.(349-351)tctfs|p.V118fs|0.35|CATTTACCTCTGTGGATCTG|ACOT13_ENST00000537591.1_FRAME_SHIFT_INS_p.V95fs/RP1-30M3.5_ENST00000607014.1_RNA/ACOT13_ENST00000476436.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC000894|NM_018473.3|NP_060943.1|HGNC:20999|acyl-CoA_%20_thioesterase_%20_13|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|THEM2|"thioesterase_%20_superfamily_%20_member_%20_2"|HT012||6p22.3|2016-10-05|2009-05-05|2009-05-05|AF220186||55856|ENSG00000112304|16934754_%2C__%20_19405909|NM_018473|41|Acyl-CoA_%20_thioesterases|CCDS4558_%2C__%20_CCDS54972|OTTHUMG00000014359|55856|615652|NM_001160094|Q9NPJ3|ENSG00000112304|uc003nek.4|ACO13_HUMAN||F5H2L4_%7C_O95549|Q9NPJ3|metabolic_%20_process_%20_(GO:0008152)_%7C_protein_%20_homotetramerization_%20_(GO:0051289)|cytoskeleton_%20_(GO:0005856)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|acyl-CoA_%20_hydrolase_%20_activity_%20_(GO:0047617)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 26027478 exm2118520 C T . PASS FUNCOTATION=[HIST1H4B|hg19|chr6|26027478|26027478|START_CODON_SNP||SNP|C|C|T|g.chr6:26027478C>T|ENST00000377364.3|-|1|3|c.3G>A|c.(1-3)atG>atA|p.M1I|0.5211970074812967|CGCGACCAGACATGTCTAACC||||||||||||||||||||||||||189|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||Z98744|NM_003544.2|NP_003535.1|HGNC:4789|histone_%20_cluster_%20_1_%20_H4_%20_family_%20_member_%20_b|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|H4FI|"H4_%20_histone_%20_family_%2C__%20_member_%20_I"_%2C__%20_"histone_%20_1_%2C__%20_H4b"_%2C__%20_"histone_%20_cluster_%20_1_%2C__%20_H4b"|H4/I||6p22.2|2016-08-15|2003-02-14|2016-08-15|X67081||8366|ENSG00000278705|9119399_%2C__%20_12408966|NM_003544|864|Histones|CCDS4572|OTTHUMG00000014417|8366|602829|NM_003544|P62805|ENSG00000278705|uc003nfr.4|H4_HUMAN||A2VCL0_%7C_P02304_%7C_P02305_%7C_Q6DRA9_%7C_Q6FGB8_%7C_Q6NWP7|P62805|CENP-A_%20_containing_%20_nucleosome_%20_assembly_%20_(GO:0034080)_%7C_chromatin_%20_organization_%20_(GO:0006325)_%7C_DNA_%20_replication-dependent_%20_nucleosome_%20_assembly_%20_(GO:0006335)_%7C_DNA_%20_replication-independent_%20_nucleosome_%20_assembly_%20_(GO:0006336)_%7C_histone_%20_H4-K20_%20_demethylation_%20_(GO:0035574)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_negative_%20_regulation_%20_of_%20_megakaryocyte_%20_differentiation_%20_(GO:0045653)_%7C_nucleosome_%20_assembly_%20_(GO:0006334)_%7C_telomere_%20_maintenance_%20_(GO:0000723)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_nuclear_%20_chromosome_%20_(GO:0000228)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleosome_%20_(GO:0000786)_%7C_nucleus_%20_(GO:0005634)_%7C_protein_%20_complex_%20_(GO:0043234)|DNA_%20_binding_%20_(GO:0003677)_%7C_histone_%20_demethylase_%20_activity_%20_(H4-K20_%20_specific)_%20_(GO:0035575)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 26216869 exm2118836 C A . PASS FUNCOTATION=[HIST1H2BG|hg19|chr6|26216869|26216869|START_CODON_SNP||SNP|C|C|A|g.chr6:26216869C>A|ENST00000244601.3|-|1|4|c.3G>T|c.(1-3)atG>atT|p.M1I|0.4488778054862843|CTGGTTCAGGCATGCTGTCAG|HIST1H2AE_ENST00000303910.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(1)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||Z80783|NM_003518.3|NP_003509.1|HGNC:4746|histone_%20_cluster_%20_1_%20_H2B_%20_family_%20_member_%20_g|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|H2BFA|"H2B_%20_histone_%20_family_%2C__%20_member_%20_A"_%2C__%20_"histone_%20_1_%2C__%20_H2bg"_%2C__%20_"histone_%20_cluster_%20_1_%2C__%20_H2bg"|H2B/a_%2C__%20_H2B.1A||6p22.2|2016-08-15|2003-02-14|2016-08-15|M60750||8339|ENSG00000273802|1916825_%2C__%20_12408966|NM_003518|864|Histones|CCDS4594|OTTHUMG00000014446|8339|602798|NM_003518|P62807|ENSG00000273802|uc003ngz.5|H2B1C_HUMAN||P02278_%7C_Q3B872_%7C_Q4VB69_%7C_Q93078_%7C_Q93080|P62807|antibacterial_%20_humoral_%20_response_%20_(GO:0019731)_%7C_chromatin_%20_organization_%20_(GO:0006325)_%7C_defense_%20_response_%20_to_%20_Gram-positive_%20_bacterium_%20_(GO:0050830)_%7C_innate_%20_immune_%20_response_%20_in_%20_mucosa_%20_(GO:0002227)_%7C_nucleosome_%20_assembly_%20_(GO:0006334)|extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleosome_%20_(GO:0000786)_%7C_nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 27114910 exm523525 G A . PASS FUNCOTATION=[HIST1H2AH|hg19|chr6|27114910|27114910|START_CODON_SNP||SNP|G|G|A|g.chr6:27114910G>A|ENST00000377459.1|+|1|50|c.3G>A|c.(1-3)atG>atA|p.M1I|0.5361596009975063|TGACCAGTATGTCTGGACGTG|HIST1H2BK_ENST00000356950.1_FIVE_PRIME_FLANK/HIST1H2BK_ENST00000396891.4_FIVE_PRIME_FLANK/MIR3143_ENST00000584253.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471081|NM_080596.2|NP_542163.1|HGNC:13671|histone_%20_cluster_%20_1_%20_H2A_%20_family_%20_member_%20_h|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"histone_%20_1_%2C__%20_H2ah"_%2C__%20_"histone_%20_cluster_%20_1_%2C__%20_H2ah"|H2AFALii_%2C__%20_dJ86C11.1_%2C__%20_H2A/S||6p22.1|2016-08-15||2016-08-15|AY131988||85235|ENSG00000274997|12408966|NM_080596|864|Histones|CCDS4622|OTTHUMG00000014468|85235|615013|NM_080596|Q96KK5|ENSG00000274997|uc003niz.5|H2A1H_HUMAN|||Q96KK5||extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleosome_%20_(GO:0000786)_%7C_nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 28056967 indel.89354 A AC . PASS FUNCOTATION=[ZNF165|hg19|chr6|28056967|28056968|FRAME_SHIFT_INS||INS|-|-|C|g.chr6:28056967_28056968insC|ENST00000377325.1|+|4|1733|c.1177_1178insC|c.(1177-1179)attfs|p.I393fs|0.435|CATCGGCGAATTCACACTGG|ZSCAN12P1_ENST00000529104.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(13)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X84801|NM_003447.3|NP_003438.1|HGNC:12953|zinc_%20_finger_%20_protein_%20_165|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ZSCAN7_%2C__%20_CT53|"cancer/testis_%20_antigen_%20_53"|6p22.1|2016-10-05|||U78722||7718|ENSG00000197279|7490084|NM_003447|42_%7C_28|SCAN_%20_domain_%20_containing_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS4643|OTTHUMG00000014505|7718|600834|NM_003447|P49910|ENSG00000197279|uc021yro.2|ZN165_HUMAN|||P49910|transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 29795623 exm526510 T C . PASS FUNCOTATION=[HLA-G|hg19|chr6|29795623|29795623|START_CODON_SNP||SNP|T|T|C|g.chr6:29795623T>C|ENST00000360323.6|+|1|26|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6758104738154613|ACGCCAAGGATGGTGGTCATG|HLA-G_ENST00000376828.2_MISSENSE_p.M6T/HLA-G_ENST00000376818.3_START_CODON_SNP_p.M1T/HLA-G_ENST00000376815.3_START_CODON_SNP_p.M1T/HLA-G_ENST00000428701.1_START_CODON_SNP_p.M1T|||||||||||||||||||||||||130|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_skin(32)_%7C_upper_aerodigestive_tract(8)|||||||X60983|||HGNC:4964|major_%20_histocompatibility_%20_complex_%2C__%20_class_%20_I_%2C__%20_G|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"HLA-G_%20_histocompatibility_%20_antigen_%2C__%20_class_%20_I_%2C__%20_G"||"b2_%20_microglobulin"|6p22.1|2017-07-07||2007-12-12|||3135|ENSG00000204632||NM_002127|591_%7C_588|C1-set_%20_domain_%20_containing_%7C_Histocompatibility_%20_complex|CCDS4668|OTTHUMG00000031157|3135|142871|NM_002127|P17693|ENSG00000204632|uc003nnw.2|HLAG_HUMAN|||P17693|antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_(GO:0042590)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%2C__%20_TAP-dependent_%20_(GO:0002479)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%2C__%20_TAP-independent_%20_(GO:0002480)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_(GO:0002474)_%7C_cellular_%20_defense_%20_response_%20_(GO:0006968)_%7C_cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_immune_%20_response-inhibiting_%20_cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0002767)_%7C_interferon-gamma-mediated_%20_signaling_%20_pathway_%20_(GO:0060333)_%7C_negative_%20_regulation_%20_of_%20_dendritic_%20_cell_%20_differentiation_%20_(GO:2001199)_%7C_negative_%20_regulation_%20_of_%20_T_%20_cell_%20_proliferation_%20_(GO:0042130)_%7C_positive_%20_regulation_%20_of_%20_interleukin-12_%20_production_%20_(GO:0032735)_%7C_positive_%20_regulation_%20_of_%20_regulatory_%20_T_%20_cell_%20_differentiation_%20_(GO:0045591)_%7C_positive_%20_regulation_%20_of_%20_T_%20_cell_%20_mediated_%20_cytotoxicity_%20_(GO:0001916)_%7C_positive_%20_regulation_%20_of_%20_T_%20_cell_%20_tolerance_%20_induction_%20_(GO:0002666)_%7C_regulation_%20_of_%20_immune_%20_response_%20_(GO:0050776)_%7C_type_%20_I_%20_interferon_%20_signaling_%20_pathway_%20_(GO:0060337)|early_%20_endosome_%20_membrane_%20_(GO:0031901)_%7C_ER_%20_to_%20_Golgi_%20_transport_%20_vesicle_%20_membrane_%20_(GO:0012507)_%7C_Golgi_%20_membrane_%20_(GO:0000139)_%7C_integral_%20_component_%20_of_%20_lumenal_%20_side_%20_of_%20_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0071556)_%7C_membrane_%20_(GO:0016020)_%7C_MHC_%20_class_%20_I_%20_protein_%20_complex_%20_(GO:0042612)_%7C_phagocytic_%20_vesicle_%20_membrane_%20_(GO:0030670)_%7C_plasma_%20_membrane_%20_(GO:0005886)|peptide_%20_antigen_%20_binding_%20_(GO:0042605)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_receptor_%20_binding_%20_(GO:0005102)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 30080582 exm527119 T C . PASS FUNCOTATION=[TRIM31|hg19|chr6|30080582|30080582|START_CODON_SNP||SNP|T|T|C|g.chr6:30080582T>C|ENST00000376734.3|-|2|127|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.46633416458852867|CCACTGGCCATGACAGAACAA|TRIM31_ENST00000540829.1_START_CODON_SNP_p.M1V/TRIM31-AS1_ENST00000440874.1_RNA/TRIM31_ENST00000485864.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||616|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(1)|||||||Y07828|NM_007028.3|NP_008959.3|HGNC:16289|tripartite_%20_motif_%20_containing_%20_31|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tripartite_%20_motif-containing_%20_31"|RNF_%2C__%20_HCGI_%2C__%20_C6orf13_%2C__%20_HCG1||6p22.1|2016-10-05||2011-01-25|AF230386||11074|ENSG00000204616|11331580||59_%7C_58|Tripartite_%20_motif_%20_containing_%7C_Ring_%20_finger_%20_proteins|CCDS34374|OTTHUMG00000031064|11074|609316|NM_007028|Q9BZY9|ENSG00000204616|uc011ihp.3|TRI31_HUMAN||A6NLX6_%7C_A9R9Q4_%7C_Q53H52_%7C_Q5RI37_%7C_Q5SRJ7_%7C_Q5SRJ8_%7C_Q5SS28_%7C_Q96AK4_%7C_Q96AP8_%7C_Q99579_%7C_Q9BZY8|Q9BZY9|innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_negative_%20_regulation_%20_of_%20_viral_%20_entry_%20_into_%20_host_%20_cell_%20_(GO:0046597)_%7C_negative_%20_regulation_%20_of_%20_viral_%20_transcription_%20_(GO:0032897)_%7C_positive_%20_regulation_%20_of_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0051091)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)_%7C_regulation_%20_of_%20_viral_%20_release_%20_from_%20_host_%20_cell_%20_(GO:1902186)|mitochondrion_%20_(GO:0005739)|ligase_%20_activity_%20_(GO:0016874)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 31828246 indel.89874 C CCT . PASS FUNCOTATION=[NEU1|hg19|chr6|31828246|31828247|FRAME_SHIFT_INS||INS|-|-|CT|g.chr6:31828246_31828247insCT|ENST00000375631.4|-|4|898|c.767_768insAG|c.(766-768)cagfs|p.E257fs|0.5925|ATCATTTTCCTGCTTGGGCT||||||||||||||||||||||||||159|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X78687|NM_000434.3|NP_000425.1|HGNC:7758|neuraminidase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|NEU|"sialidase_%20_1_%20_(lysosomal_%20_sialidase)"_%2C__%20_"neuraminidase_%20_1_%20_(lysosomal_%20_sialidase)"|||6p21.33|2016-10-05||2016-07-01|AF040958|3.2.1.18|4758|ENSG00000204386|9054950||||CCDS4723|OTTHUMG00000031284|4758|608272|NM_000434|Q99519|ENSG00000204386|uc011ise.3|NEUR1_HUMAN|Oseltamivir(DB00198)||Q99519|glycosphingolipid_%20_metabolic_%20_process_%20_(GO:0006687)_%7C_lipid_%20_catabolic_%20_process_%20_(GO:0016042)_%7C_oligosaccharide_%20_catabolic_%20_process_%20_(GO:0009313)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_sphingolipid_%20_metabolic_%20_process_%20_(GO:0006665)|cell_%20_junction_%20_(GO:0030054)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_lysosome_%20_(GO:0005764)_%7C_plasma_%20_membrane_%20_(GO:0005886)|exo-alpha-(2->3)-sialidase_%20_activity_%20_(GO:0052794)_%7C_exo-alpha-(2->6)-sialidase_%20_activity_%20_(GO:0052795)_%7C_exo-alpha-(2->8)-sialidase_%20_activity_%20_(GO:0052796)_%7C_exo-alpha-sialidase_%20_activity_%20_(GO:0004308)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 32731258 exm-rs1573649 G A . PASS FUNCOTATION=[HLA-DQB2|hg19|chr6|32731258|32731258|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr6:32731258G>A|ENST00000437316.2|-|1|||||0.5236907730673317|CTTCCAAGACGTAAGTGAGAC|HLA-DQB2_ENST00000435145.2_DE_NOVO_START_IN_FRAME/HLA-DQB2_ENST00000411527.1_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||||||||||AL672104|||HGNC:4945|major_%20_histocompatibility_%20_complex_%2C__%20_class_%20_II_%2C__%20_DQ_%20_beta_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HLA-DXB||||6p21.32|2016-10-05|||M83890||3120|ENSG00000232629|2564844||591_%7C_588|C1-set_%20_domain_%20_containing_%7C_Histocompatibility_%20_complex|CCDS56419_%2C__%20_CCDS78128|OTTHUMG00000031125|3120|615161|NM_001198858|P05538|ENSG00000232629|uc063zhn.1|DQB2_HUMAN||A6NIA5_%7C_Q29826_%7C_Q29870_%7C_Q29871_%7C_Q29872_%7C_Q29873_%7C_Q5SR06|P05538|antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_II_%20_(GO:0019886)_%7C_B_%20_cell_%20_affinity_%20_maturation_%20_(GO:0002344)_%7C_cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_interferon-gamma-mediated_%20_signaling_%20_pathway_%20_(GO:0060333)_%7C_positive_%20_regulation_%20_of_%20_alpha-beta_%20_T_%20_cell_%20_activation_%20_(GO:0046635)_%7C_positive_%20_regulation_%20_of_%20_antigen_%20_processing_%20_and_%20_presentation_%20_(GO:0002579)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_1_%20_type_%20_immune_%20_response_%20_(GO:0002827)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)|clathrin-coated_%20_endocytic_%20_vesicle_%20_membrane_%20_(GO:0030669)_%7C_early_%20_endosome_%20_(GO:0005769)_%7C_endocytic_%20_vesicle_%20_membrane_%20_(GO:0030666)_%7C_ER_%20_to_%20_Golgi_%20_transport_%20_vesicle_%20_membrane_%20_(GO:0012507)_%7C_external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_Golgi_%20_membrane_%20_(GO:0000139)_%7C_integral_%20_component_%20_of_%20_lumenal_%20_side_%20_of_%20_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0071556)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_MHC_%20_class_%20_II_%20_protein_%20_complex_%20_(GO:0042613)_%7C_multivesicular_%20_body_%20_(GO:0005771)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_trans-Golgi_%20_network_%20_membrane_%20_(GO:0032588)_%7C_transport_%20_vesicle_%20_membrane_%20_(GO:0030658)|MHC_%20_class_%20_II_%20_receptor_%20_activity_%20_(GO:0032395)_%7C_peptide_%20_antigen_%20_binding_%20_(GO:0042605)_%7C_toxic_%20_substance_%20_binding_%20_(GO:0015643)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 32731258 rs1573649 G A . PASS FUNCOTATION=[HLA-DQB2|hg19|chr6|32731258|32731258|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr6:32731258G>A|ENST00000437316.2|-|1|||||0.5236907730673317|CTTCCAAGACGTAAGTGAGAC|HLA-DQB2_ENST00000435145.2_DE_NOVO_START_IN_FRAME/HLA-DQB2_ENST00000411527.1_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||||||||||AL672104|||HGNC:4945|major_%20_histocompatibility_%20_complex_%2C__%20_class_%20_II_%2C__%20_DQ_%20_beta_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HLA-DXB||||6p21.32|2016-10-05|||M83890||3120|ENSG00000232629|2564844||591_%7C_588|C1-set_%20_domain_%20_containing_%7C_Histocompatibility_%20_complex|CCDS56419_%2C__%20_CCDS78128|OTTHUMG00000031125|3120|615161|NM_001198858|P05538|ENSG00000232629|uc063zhn.1|DQB2_HUMAN||A6NIA5_%7C_Q29826_%7C_Q29870_%7C_Q29871_%7C_Q29872_%7C_Q29873_%7C_Q5SR06|P05538|antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_II_%20_(GO:0019886)_%7C_B_%20_cell_%20_affinity_%20_maturation_%20_(GO:0002344)_%7C_cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_interferon-gamma-mediated_%20_signaling_%20_pathway_%20_(GO:0060333)_%7C_positive_%20_regulation_%20_of_%20_alpha-beta_%20_T_%20_cell_%20_activation_%20_(GO:0046635)_%7C_positive_%20_regulation_%20_of_%20_antigen_%20_processing_%20_and_%20_presentation_%20_(GO:0002579)_%7C_positive_%20_regulation_%20_of_%20_T-helper_%20_1_%20_type_%20_immune_%20_response_%20_(GO:0002827)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)|clathrin-coated_%20_endocytic_%20_vesicle_%20_membrane_%20_(GO:0030669)_%7C_early_%20_endosome_%20_(GO:0005769)_%7C_endocytic_%20_vesicle_%20_membrane_%20_(GO:0030666)_%7C_ER_%20_to_%20_Golgi_%20_transport_%20_vesicle_%20_membrane_%20_(GO:0012507)_%7C_external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_Golgi_%20_membrane_%20_(GO:0000139)_%7C_integral_%20_component_%20_of_%20_lumenal_%20_side_%20_of_%20_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0071556)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_MHC_%20_class_%20_II_%20_protein_%20_complex_%20_(GO:0042613)_%7C_multivesicular_%20_body_%20_(GO:0005771)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_trans-Golgi_%20_network_%20_membrane_%20_(GO:0032588)_%7C_transport_%20_vesicle_%20_membrane_%20_(GO:0030658)|MHC_%20_class_%20_II_%20_receptor_%20_activity_%20_(GO:0032395)_%7C_peptide_%20_antigen_%20_binding_%20_(GO:0042605)_%7C_toxic_%20_substance_%20_binding_%20_(GO:0015643)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 33172446 exm537955 A G . PASS FUNCOTATION=[HSD17B8|hg19|chr6|33172446|33172446|START_CODON_SNP||SNP|A|A|G|g.chr6:33172446A>G|ENST00000374662.3|+|1|28|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6658354114713217|ACAGCCCGCCATGGCGTCTCA|RING1_ENST00000374656.4_FIVE_PRIME_FLANK/RXRB_ENST00000374680.3_FIVE_PRIME_FLANK/RXRB_ENST00000374685.4_FIVE_PRIME_FLANK/RXRB_ENST00000413614.2_FIVE_PRIME_FLANK/RXRB_ENST00000544186.1_FIVE_PRIME_FLANK/MIR219-1_ENST00000362166.1_FIVE_PRIME_FLANK/HSD17B8_ENST00000469186.1_FIVE_PRIME_FLANK/RING1_ENST00000478431.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||154|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||D82061|NM_014234.4|NP_055049.1|HGNC:3554|hydroxysteroid_%20_17-beta_%20_dehydrogenase_%20_8|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FABGL|"FabG_%20_(beta-ketoacyl-[acyl-carrier-protein]_%20_reductase_%2C__%20_E_%20_coli)_%20_like_%20_(E._%20_coli)"_%2C__%20_"hydroxysteroid_%20_(17-beta)_%20_dehydrogenase_%20_8"|HKE6_%2C__%20_D6S2245E_%2C__%20_RING2_%2C__%20_KE6_%2C__%20_H2-KE6_%2C__%20_SDR30C1|"short_%20_chain_%20_dehydrogenase/reductase_%20_family_%20_30C_%2C__%20_member_%20_1"|6p21.32|2016-10-05|2002-02-22|2016-06-03|D82061|1.1.1.62|7923|ENSG00000204228|8812499_%2C__%20_19027726|NM_014234|743|Short_%20_chain_%20_dehydrogenase/reductase_%20_superfamily|CCDS4769|OTTHUMG00000031117|7923|601417|NM_014234|Q92506|ENSG00000204228|uc011izs.3|DHB8_HUMAN||A6NLX7_%7C_Q5STP7_%7C_Q9UIQ1|Q92506|androgen_%20_metabolic_%20_process_%20_(GO:0008209)_%7C_estrogen_%20_biosynthetic_%20_process_%20_(GO:0006703)_%7C_fatty_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0006633)|mitochondrial_%20_envelope_%20_(GO:0005740)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_plasma_%20_membrane_%20_(GO:0005886)|3-hydroxyacyl-CoA_%20_dehydrogenase_%20_activity_%20_(GO:0003857)_%7C_estradiol_%20_17-beta-dehydrogenase_%20_activity_%20_(GO:0004303)_%7C_testosterone_%20_dehydrogenase_%20_(NAD+)_%20_activity_%20_(GO:0047035)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 39554075 indel.90611 T TGC . PASS FUNCOTATION=[KIF6|hg19|chr6|39554075|39554076|FRAME_SHIFT_INS||INS|-|-|GC|g.chr6:39554075_39554076insGC|ENST00000287152.7|-|8|1047|c.951_952insGC|c.(952-954)atgfs|p.M318fs|0.425|TTGCAATCATAGTTGTCATG|KIF6_ENST00000373215.3_FRAME_SHIFT_INS_p.M318fs/KIF6_ENST00000373216.3_FRAME_SHIFT_INS_p.M318fs/KIF6_ENST00000373213.4_FRAME_SHIFT_INS_p.M157fs/KIF6_ENST00000538893.1_FRAME_SHIFT_INS_p.M318fs|||||||||||||||||||||||||246|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||BX649045|NM_145027.4|NP_659464.3|HGNC:21202|kinesin_%20_family_%20_member_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C6orf102|"chromosome_%20_6_%20_open_%20_reading_%20_frame_%20_102"|dJ1043E3.1_%2C__%20_MGC33317_%2C__%20_dJ137F1.4_%2C__%20_dJ188D3.1_%2C__%20_DKFZp451I2418||6p21.2|2014-11-19|||AL832634||221458|ENSG00000164627||NM_145027|622|Kinesins|CCDS4844_%2C__%20_CCDS75449|OTTHUMG00000014648|221458|613919|NM_001289020|Q6ZMV9|ENSG00000164627|uc003oot.3|KIF6_HUMAN||Q2MDE3_%7C_Q2MDE4_%7C_Q5T8J6_%7C_Q6ZWE3_%7C_Q86T87_%7C_Q8WTV4|Q6ZMV9|ATP_%20_catabolic_%20_process_%20_(GO:0006200)_%7C_metabolic_%20_process_%20_(GO:0008152)_%7C_microtubule-based_%20_movement_%20_(GO:0007018)|cytoplasm_%20_(GO:0005737)_%7C_kinesin_%20_complex_%20_(GO:0005871)_%7C_male_%20_germ_%20_cell_%20_nucleus_%20_(GO:0001673)_%7C_microtubule_%20_(GO:0005874)|ATP_%20_binding_%20_(GO:0005524)_%7C_ATPase_%20_activity_%20_(GO:0016887)_%7C_microtubule_%20_motor_%20_activity_%20_(GO:0003777)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 42713809 exm547280 C T . PASS FUNCOTATION=[TBCC|hg19|chr6|42713809|42713809|START_CODON_SNP||SNP|C|C|T|g.chr6:42713809C>T|ENST00000372876.1|-|1|26|c.3G>A|c.(1-3)atG>atA|p.M1I|0.5960099750623441|TGACGGACTCCATATTGGCTT|TBCC_ENST00000244625.2_START_CODON_SNP_p.M1I|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U61234|NM_003192.2|NP_003183.1|HGNC:11580|tubulin_%20_folding_%20_cofactor_%20_C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tubulin-specific_%20_chaperone_%20_c"|CFC||6p21.1|2015-08-26||2006-11-21|U61234||6903|ENSG00000124659|8706133_%2C__%20_11847227|NM_003192|||CCDS4872|OTTHUMG00000014704|6903|602971|NM_003192|Q15814|ENSG00000124659|uc003osl.4|TBCC_HUMAN||Q53Y43_%7C_Q5T787|Q15814|'de_%20_novo'_%20_posttranslational_%20_protein_%20_folding_%20_(GO:0051084)_%7C_cell_%20_morphogenesis_%20_(GO:0000902)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_GTP_%20_catabolic_%20_process_%20_(GO:0006184)_%7C_post-chaperonin_%20_tubulin_%20_folding_%20_pathway_%20_(GO:0007023)_%7C_protein_%20_folding_%20_(GO:0006457)|cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_microtubule_%20_(GO:0005874)_%7C_photoreceptor_%20_connecting_%20_cilium_%20_(GO:0032391)|chaperone_%20_binding_%20_(GO:0051087)_%7C_GTPase_%20_activity_%20_(GO:0003924)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 42713810 exm547281 A C . PASS FUNCOTATION=[TBCC|hg19|chr6|42713810|42713810|START_CODON_SNP||SNP|A|A|C|g.chr6:42713810A>C|ENST00000372876.1|-|1|25|c.2T>G|c.(1-3)aTg>aGg|p.M1R|0.5935162094763092|GACGGACTCCATATTGGCTTC|TBCC_ENST00000244625.2_START_CODON_SNP_p.M1R|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U61234|NM_003192.2|NP_003183.1|HGNC:11580|tubulin_%20_folding_%20_cofactor_%20_C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tubulin-specific_%20_chaperone_%20_c"|CFC||6p21.1|2015-08-26||2006-11-21|U61234||6903|ENSG00000124659|8706133_%2C__%20_11847227|NM_003192|||CCDS4872|OTTHUMG00000014704|6903|602971|NM_003192|Q15814|ENSG00000124659|uc003osl.4|TBCC_HUMAN||Q53Y43_%7C_Q5T787|Q15814|'de_%20_novo'_%20_posttranslational_%20_protein_%20_folding_%20_(GO:0051084)_%7C_cell_%20_morphogenesis_%20_(GO:0000902)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_GTP_%20_catabolic_%20_process_%20_(GO:0006184)_%7C_post-chaperonin_%20_tubulin_%20_folding_%20_pathway_%20_(GO:0007023)_%7C_protein_%20_folding_%20_(GO:0006457)|cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_microtubule_%20_(GO:0005874)_%7C_photoreceptor_%20_connecting_%20_cilium_%20_(GO:0032391)|chaperone_%20_binding_%20_(GO:0051087)_%7C_GTPase_%20_activity_%20_(GO:0003924)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 42858524 exm547465 C T . PASS FUNCOTATION=[C6orf226|hg19|chr6|42858524|42858524|START_CODON_SNP||SNP|C|C|T|g.chr6:42858524C>T|ENST00000408925.2|-|1|31|c.3G>A|c.(1-3)atG>atA|p.M1I|0.6533665835411472|GGGGACGCTCCATGTCGGGTC||||||||||||||||||||||||||||||||||BC094854|NM_001008739.1|NP_001008739.1|HGNC:34431|chromosome_%20_6_%20_open_%20_reading_%20_frame_%20_226|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||LOC441150||6p21.1|2016-09-30|||BC051007_%2C__%20_BC060325||441150|ENSG00000221821||NM_001008739|||CCDS43463|OTTHUMG00000156926|441150||NM_001008739|Q5I0X4|ENSG00000221821|uc003osw.3|CF226_HUMAN|||Q5I0X4|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 49604523 newrs121918588 C A . PASS FUNCOTATION=[RHAG|hg19|chr6|49604523|49604523|START_CODON_SNP||SNP|C|C|A|g.chr6:49604523C>A|ENST00000371175.4|-|1|30|c.3G>T|c.(1-3)atG>atT|p.M1I|0.41895261845386533|ATGTGAACCTCATGTTTGTGG|RHAG_ENST00000229810.7_START_CODON_SNP_p.M1I|Ovarian(176_%3B_476_%20_2003_%20_7720_%20_43408_%20_44749)||||||||||||||||||||||||155|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_lung(1)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||X64594|NM_000324.2|NP_000315.2|HGNC:10006|Rh_%20_associated_%20_glycoprotein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Rhesus_%20_blood_%20_group-associated_%20_glycoprotein"|RH50A_%2C__%20_CD241_%2C__%20_SLC42A1||6p12.3|2017-09-12||2017-09-12|||6005|ENSG00000112077|9479501||752_%7C_471_%7C_454|Solute_%20_carriers_%7C_CD_%20_molecules_%7C_Blood_%20_group_%20_antigens|CCDS4927|OTTHUMG00000016377|6005|180297|NM_000324|Q02094|ENSG00000112077|uc003ozk.5|RHAG_HUMAN||B2R8T8_%7C_O43514_%7C_O43515_%7C_Q7L8L3_%7C_Q9H454|Q02094|ammonium_%20_transmembrane_%20_transport_%20_(GO:0072488)_%7C_ammonium_%20_transport_%20_(GO:0015696)_%7C_bicarbonate_%20_transport_%20_(GO:0015701)_%7C_carbon_%20_dioxide_%20_transport_%20_(GO:0015670)_%7C_cellular_%20_ion_%20_homeostasis_%20_(GO:0006873)_%7C_erythrocyte_%20_development_%20_(GO:0048821)_%7C_multicellular_%20_organismal_%20_iron_%20_ion_%20_homeostasis_%20_(GO:0060586)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ammonium_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0008519)_%7C_ankyrin_%20_binding_%20_(GO:0030506)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 52285209 exm555450 A G . PASS FUNCOTATION=[EFHC1|hg19|chr6|52285209|52285209|START_CODON_SNP||SNP|A|A|G|g.chr6:52285209A>G|ENST00000371068.5|+|1|104|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6134663341645885|ACCGGCTGCAATGGTGTCCAA|EFHC1_ENST00000433625.2_FIVE_PRIME_UTR/EFHC1_ENST00000538167.1_FIVE_PRIME_FLANK/EFHC1_ENST00000491749.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||EU520261|NM_018100.3|NP_060570.2|HGNC:16406|EF-hand_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EJM1_%2C__%20_EJM|"epilepsy_%2C__%20_juvenile_%20_myoclonic_%20_1"_%2C__%20_"EF-hand_%20_domain_%20_(C-terminal)_%20_containing_%20_1"|FLJ10466|"myoclonin-1"|6p12.2|2016-10-05||2016-04-06|AK001328||114327|ENSG00000096093|15258581|NM_018100|863|EF-hand_%20_domain_%20_containing|CCDS4942_%2C__%20_CCDS55021|OTTHUMG00000014848|114327|608815|NM_001172420|Q5JVL4|ENSG00000096093|uc003pap.5|EFHC1_HUMAN||B4DMU3_%7C_F5GZD8_%7C_Q5XKM4_%7C_Q6E1U7_%7C_Q6E1U8_%7C_Q8WUL2_%7C_Q9NVW6|Q5JVL4||axoneme_%20_(GO:0005930)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein_%20_C-terminus_%20_binding_%20_(GO:0008022)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 76782204 exm562176 A T . PASS FUNCOTATION=[IMPG1|hg19|chr6|76782204|76782204|START_CODON_SNP||SNP|A|A|T|g.chr6:76782204A>T|ENST00000369950.3|-|1|192|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.3167082294264339|TTCCAAATACATTCTGGCTTT|IMPG1_ENST00000369963.3_START_CODON_SNP_p.M1K|Pancreas(37_%3B_839_%20_1141_%20_2599_%20_26037)||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471051|NM_001563.2|NP_001554.2|HGNC:6055|interphotoreceptor_%20_matrix_%20_proteoglycan_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SPACR|"sialoprotein_%20_associated_%20_with_%20_cones_%20_and_%20_rods"|IPM150_%2C__%20_GP147||6q14.1|2016-10-05||2004-05-25|AF017776||3617|ENSG00000112706||NM_001563|||CCDS4985_%2C__%20_CCDS75483|OTTHUMG00000015063|3617|602870|NM_001282368|Q17R60|ENSG00000112706|uc032xbg.2|||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 84567107 exm563671 A C . PASS FUNCOTATION=[RIPPLY2|hg19|chr6|84567107|84567107|NONSTOP||SNP|A|A|C|g.chr6:84567107A>C|ENST00000369689.1|+|4|537|c.386A>C|c.(385-387)tAa>tCa|p.*129S|0.2793017456359102|TGTGAAAATTAATCTGATTAG|RIPPLY2_ENST00000369687.1_NONSTOP_p.*71S/CYB5R4_ENST00000369679.4_FIVE_PRIME_FLANK/CYB5R4_ENST00000369681.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471051|NM_001009994.2|NP_001009994.1|HGNC:21390|ripply_%20_transcriptional_%20_repressor_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C6orf159|"chromosome_%20_6_%20_open_%20_reading_%20_frame_%20_159"_%2C__%20_"ripply2_%20_homolog_%20_(zebrafish)"|dJ237I15.1||6q14.2|2014-11-19|2008-05-07|2013-07-23|BC130460||134701|ENSG00000203877||NM_001009994|||CCDS34493|OTTHUMG00000015117|134701|609891|NM_001009994|Q5TAB7|ENSG00000203877|uc003pke.5|RIPP2_HUMAN||Q5TAB6|Q5TAB7|bone_%20_morphogenesis_%20_(GO:0060349)_%7C_determination_%20_of_%20_left/right_%20_symmetry_%20_(GO:0007368)_%7C_Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_ossification_%20_(GO:0001503)_%7C_post-anal_%20_tail_%20_morphogenesis_%20_(GO:0036342)_%7C_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0010468)_%7C_somite_%20_rostral/caudal_%20_axis_%20_specification_%20_(GO:0032525)_%7C_somitogenesis_%20_(GO:0001756)|nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 88255394 var_6_88255394 CTTT C . PASS FUNCOTATION=[RARS2|hg19|chr6|88255395|88255397|IN_FRAME_DEL||DEL|TTT|TTT|-|g.chr6:88255395_88255397delTTT|ENST00000369536.5|-|7|521_523|c.472_474delAAA|c.(472-474)aaadel|p.K158del|0.2903225806451613|CTAAAGCTTCTTTGAGATTTGCT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471051|NM_020320.3|NP_064716.2|HGNC:21406|arginyl-tRNA_%20_synthetase_%20_2_%2C__%20_mitochondrial|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|RARSL|"arginyl-tRNA_%20_synthetase-like"|MGC14993_%2C__%20_MGC23778_%2C__%20_PRO1992_%2C__%20_dJ382I10.6_%2C__%20_DALRD2|"arginine_%20_tRNA_%20_ligase_%20_2_%2C__%20_mitochondrial_%20_(putative)"|6q15|2016-10-05|2007-02-23|2007-09-27|AK093934|6.1.1.19|57038|ENSG00000146282|17847012|NM_020320|131|Aminoacyl_%20_tRNA_%20_synthetases_%2C__%20_Class_%20_I|CCDS5011|OTTHUMG00000015178|57038|611524|NM_001318785|Q5T160|ENSG00000146282|uc003pme.4|SYRM_HUMAN||B2RDT7_%7C_Q96FU5_%7C_Q9H8K8|Q5T160|arginyl-tRNA_%20_aminoacylation_%20_(GO:0006420)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_tRNA_%20_aminoacylation_%20_for_%20_protein_%20_translation_%20_(GO:0006418)|mitochondrial_%20_matrix_%20_(GO:0005759)|arginine-tRNA_%20_ligase_%20_activity_%20_(GO:0004814)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||true|false||false|false|||false|false|false|RARS2:57038|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|757743894|88255395|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|DIV|true|0x050000000005040402000200|1|false|144|rs757743894|] +6 109954114 exm571178 T A . PASS FUNCOTATION=[AK9|hg19|chr6|109954114|109954114|NONSTOP||SNP|T|T|A|g.chr6:109954114T>A|ENST00000285397.5|-|12|1348|c.1266A>T|c.(1264-1266)taA>taT|p.*422Y|0.33915211970074816|AGACAGATAGTTAGTTAGTCA|AK9_ENST00000368948.2_INTRON/AK9_ENST00000424296.2_INTRON/AK9_ENST00000341338.6_INTRON|||||||||||||||||||||||||||||||||CH471051|NM_145025.4|NP_659462.1|HGNC:33814|adenylate_%20_kinase_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C6orf224_%2C__%20_AKD2_%2C__%20_C6orf199_%2C__%20_AKD1|"chromosome_%20_6_%20_open_%20_reading_%20_frame_%20_224"_%2C__%20_"adenylate_%20_kinase_%20_domain_%20_containing_%20_2"_%2C__%20_"chromosome_%20_6_%20_open_%20_reading_%20_frame_%20_199"_%2C__%20_"adenylate_%20_kinase_%20_domain_%20_containing_%20_1"|FLJ42177_%2C__%20_FLJ25791_%2C__%20_dJ70A9.1_%2C__%20_MGC26954||6q21|2015-10-15|2013-04-29|2013-04-29|AK131244_%2C__%20_BC146443_%2C__%20_BC087860|2.7.4.3|221264|ENSG00000155085|23416111|NM_001145128|356|Adenylate_%20_kinases|CCDS5077_%2C__%20_CCDS55048|OTTHUMG00000157658|221264|615358|NM_001145128|Q5TCS8|ENSG00000155085||KAD9_HUMAN||A6NL75_%7C_B2RDJ0_%7C_B6ZDM7_%7C_Q3MIS4_%7C_Q5I0W8_%7C_Q6ZNF1_%7C_Q6ZVR7_%7C_Q8N7C6_%7C_Q8WW00_%7C_Q96NF4|Q5TCS8|ADP_%20_phosphorylation_%20_(GO:0006757)_%7C_AMP_%20_phosphorylation_%20_(GO:0006756)_%7C_CDP_%20_phosphorylation_%20_(GO:0061508)_%7C_CMP_%20_phosphorylation_%20_(GO:0061566)_%7C_dADP_%20_phosphorylation_%20_(GO:0006174)_%7C_dAMP_%20_phosphorylation_%20_(GO:0061565)_%7C_dCDP_%20_phosphorylation_%20_(GO:0061570)_%7C_dCMP_%20_phosphorylation_%20_(GO:0061567)_%7C_dGDP_%20_phosphorylation_%20_(GO:0006186)_%7C_GDP_%20_phosphorylation_%20_(GO:0061568)_%7C_TDP_%20_phosphorylation_%20_(GO:0061571)_%7C_UDP_%20_phosphorylation_%20_(GO:0061569)|cytoplasm_%20_(GO:0005737)_%7C_nuclear_%20_membrane_%20_(GO:0031965)_%7C_nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_nucleoside_%20_diphosphate_%20_kinase_%20_activity_%20_(GO:0004550)_%7C_nucleoside_%20_phosphate_%20_kinase_%20_activity_%20_(GO:0050145)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 117249986 indel.92725 C CA . PASS FUNCOTATION=[RFX6|hg19|chr6|117249986|117249987|FRAME_SHIFT_INS||INS|-|-|A|g.chr6:117249986_117249987insA|ENST00000332958.2|+|18|2479|c.2463_2464insA|c.(2464-2466)gttfs|p.V822fs|0.3925|GAATCAGCACGTTTCTGTCA||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||CH471051|NM_173560.3|NP_775831.2|HGNC:21478|regulatory_%20_factor_%20_X6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|RFXDC1|"regulatory_%20_factor_%20_X_%20_domain_%20_containing_%20_1"_%2C__%20_"regulatory_%20_factor_%20_X_%2C__%20_6"|MGC33442_%2C__%20_dJ955L16.1|"DNA-binding_%20_protein_%20_RFX6"|6q22.1|2016-10-05|2008-08-04|2015-11-30|BC039248||222546|ENSG00000185002||NM_173560|1153|Regulatory_%20_factor_%20_X_%20_family|CCDS5113|OTTHUMG00000015449|222546|612659|NM_173560|Q8HWS3|ENSG00000185002|uc003pxm.4|RFX6_HUMAN||Q5T6B3|Q8HWS3|endocrine_%20_pancreas_%20_development_%20_(GO:0031018)_%7C_glucose_%20_homeostasis_%20_(GO:0042593)_%7C_pancreatic_%20_A_%20_cell_%20_differentiation_%20_(GO:0003310)_%7C_pancreatic_%20_D_%20_cell_%20_differentiation_%20_(GO:0003311)_%7C_pancreatic_%20_epsilon_%20_cell_%20_differentiation_%20_(GO:0090104)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_regulation_%20_of_%20_insulin_%20_secretion_%20_(GO:0050796)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_type_%20_B_%20_pancreatic_%20_cell_%20_differentiation_%20_(GO:0003309)|nucleus_%20_(GO:0005634)|transcription_%20_regulatory_%20_region_%20_DNA_%20_binding_%20_(GO:0044212)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 132874859 exm579084 A G . PASS FUNCOTATION=[TAAR8|hg19|chr6|132874859|132874859|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr6:132874859A>G|ENST00000275200.1|+|1|1028|c.1028A>G|c.(1027-1029)tAa>tGa|p.*343*|0.26184538653366585|TTTTTAGAATAAGTTTAAGCA||||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(3)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||BC069166|NM_053278.1|NP_444508.1|HGNC:14964|trace_%20_amine_%20_associated_%20_receptor_%20_8|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GPR102_%2C__%20_TRAR5|"trace_%20_amine_%20_receptor_%20_5"|TA5_%2C__%20_TAR5||6q23.2|2014-11-19|2005-02-24|2005-02-23|AF380193||83551|ENSG00000146385|11574155_%2C__%20_15718104|NM_053278|188|Trace_%20_amine_%20_receptors|CCDS5154|OTTHUMG00000015586|83551|606927|NM_053278|Q969N4|ENSG00000146385|uc011ecj.2|TAAR8_HUMAN||Q5VUQ0|Q969N4|G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_trace-amine_%20_receptor_%20_activity_%20_(GO:0001594)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 133004281 exm579323 A G . PASS FUNCOTATION=[VNN1|hg19|chr6|133004281|133004281|NONSTOP||SNP|A|A|G|g.chr6:133004281A>G|ENST00000367928.4|-|7|1554|c.1540T>C|c.(1540-1542)Tag>Cag|p.*514Q|0.32418952618453867|TCAATATTCTACCAACTTAAT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U39664|NM_004666.2|NP_004657.2|HGNC:12705|vanin_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Tiff66||6q23.2|2016-10-05|||AJ132099|3.5.1.92|8876|ENSG00000112299|9790769||10|Vanins|CCDS5159|OTTHUMG00000015587|8876|603570|NM_004666|O95497|ENSG00000112299|uc003qdo.4|VNN1_HUMAN||A8K310_%7C_Q4JFW6_%7C_Q4VAS7_%7C_Q4VAS8_%7C_Q4VAS9_%7C_Q9UF16_%7C_Q9UJF4|O95497|acute_%20_inflammatory_%20_response_%20_(GO:0002526)_%7C_cellular_%20_component_%20_movement_%20_(GO:0006928)_%7C_chronic_%20_inflammatory_%20_response_%20_(GO:0002544)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1902176)_%7C_pantothenate_%20_metabolic_%20_process_%20_(GO:0015939)_%7C_positive_%20_regulation_%20_of_%20_T_%20_cell_%20_differentiation_%20_in_%20_thymus_%20_(GO:0033089)_%7C_response_%20_to_%20_oxidative_%20_stress_%20_(GO:0006979)_%7C_single_%20_organismal_%20_cell-cell_%20_adhesion_%20_(GO:0016337)|anchored_%20_component_%20_of_%20_membrane_%20_(GO:0031225)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|GPI_%20_anchor_%20_binding_%20_(GO:0034235)_%7C_pantetheine_%20_hydrolase_%20_activity_%20_(GO:0017159)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 136603803 kgp16927569 A C . PASS FUNCOTATION=[BCLAF1|hg19|chr6|136603803|136603803|DE_NOVO_START_OUT_FRAME||SNP|A|A|C|g.chr6:136603803A>C|ENST00000531224.1|-|2|||||0.3092269326683292|TGCTCTGAGAAATTAAACTCT|BCLAF1_ENST00000530767.1_DE_NOVO_START_OUT_FRAME/BCLAF1_ENST00000527536.1_DE_NOVO_START_OUT_FRAME/BCLAF1_ENST00000527759.1_DE_NOVO_START_OUT_FRAME/BCLAF1_ENST00000353331.4_DE_NOVO_START_OUT_FRAME/BCLAF1_ENST00000392348.2_FIVE_PRIME_FLANK|Colon(142_%3B_1534_%20_1789_%20_5427_%20_7063_%20_28491)||||||||||||||||||||||||449|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(266)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||D79986|NM_014739.2|NP_055554.1|HGNC:16863|BCL2_%20_associated_%20_transcription_%20_factor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"BCL2-associated_%20_transcription_%20_factor_%20_1"|KIAA0164_%2C__%20_BTF|"BCLAF1_%20_and_%20_THRAP3_%20_family_%20_member_%20_1"|6q23.3|2017-06-09||2016-01-28|AF249273||9774|ENSG00000029363|8724849_%2C__%20_10330179|NM_014739|1420|WTAP_%20_complex|CCDS5177_%2C__%20_CCDS47485_%2C__%20_CCDS47486_%2C__%20_CCDS75525|OTTHUMG00000033323|9774|612588|NM_001077440|Q9NYF8|ENSG00000029363|uc003qgx.1|BCLF1_HUMAN||A2RU75_%7C_B7ZM58_%7C_E1P586_%7C_Q14673_%7C_Q86WU6_%7C_Q86WY0|Q9NYF8|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_DNA-templated_%20_transcription_%2C__%20_initiation_%20_(GO:2000144)_%7C_positive_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001244)_%7C_positive_%20_regulation_%20_of_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:2001022)_%7C_regulation_%20_of_%20_DNA-templated_%20_transcription_%20_in_%20_response_%20_to_%20_stress_%20_(GO:0043620)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 149721528 exm585306 A G . PASS FUNCOTATION=[SUMO4|hg19|chr6|149721528|149721528|START_CODON_SNP||SNP|A|A|G|g.chr6:149721528A>G|ENST00000326669.4|+|1|34|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5411471321695761|GGTGTTCACCATGGCCAACGA|TAB2_ENST00000367456.1_INTRON/TAB2_ENST00000538427.1_INTRON/TAB2_ENST00000286332.5_INTRON/TAB2_ENST00000536230.1_INTRON|||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471051|NM_001002255.1|NP_001002255.1|HGNC:21181|small_%20_ubiquitin-like_%20_modifier_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SMT3H4_%2C__%20_IDDM5|"SMT3_%20_suppressor_%20_of_%20_mif_%20_two_%20_3_%20_homolog_%20_4_%20_(yeast)"_%2C__%20_"SMT3_%20_suppressor_%20_of_%20_mif_%20_two_%20_3_%20_homolog_%20_4_%20_(S._%20_cerevisiae)"_%2C__%20_"insulin-dependent_%20_diabetes_%20_mellitus_%20_5"|dJ281H8.4||6q25.1|2015-09-09|2004-05-19|2013-06-05|||387082|ENSG00000177688|15123604||||CCDS34549|OTTHUMG00000015785|387082|608829|NM_001002255|Q6EEV6|ENSG00000177688|uc003qml.4|SUMO4_HUMAN||A1L3W5|Q6EEV6|protein_%20_sumoylation_%20_(GO:0016925)|nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 149721529 exm585307 T C . PASS FUNCOTATION=[SUMO4|hg19|chr6|149721529|149721529|START_CODON_SNP||SNP|T|T|C|g.chr6:149721529T>C|ENST00000326669.4|+|1|35|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.5411471321695761|GTGTTCACCATGGCCAACGAA|TAB2_ENST00000367456.1_INTRON/TAB2_ENST00000538427.1_INTRON/TAB2_ENST00000286332.5_INTRON/TAB2_ENST00000536230.1_INTRON|||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471051|NM_001002255.1|NP_001002255.1|HGNC:21181|small_%20_ubiquitin-like_%20_modifier_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SMT3H4_%2C__%20_IDDM5|"SMT3_%20_suppressor_%20_of_%20_mif_%20_two_%20_3_%20_homolog_%20_4_%20_(yeast)"_%2C__%20_"SMT3_%20_suppressor_%20_of_%20_mif_%20_two_%20_3_%20_homolog_%20_4_%20_(S._%20_cerevisiae)"_%2C__%20_"insulin-dependent_%20_diabetes_%20_mellitus_%20_5"|dJ281H8.4||6q25.1|2015-09-09|2004-05-19|2013-06-05|||387082|ENSG00000177688|15123604||||CCDS34549|OTTHUMG00000015785|387082|608829|NM_001002255|Q6EEV6|ENSG00000177688|uc003qml.4|SUMO4_HUMAN||A1L3W5|Q6EEV6|protein_%20_sumoylation_%20_(GO:0016925)|nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 149721815 exm585324 A G . PASS FUNCOTATION=[SUMO4|hg19|chr6|149721815|149721815|NONSTOP||SNP|A|A|G|g.chr6:149721815A>G|ENST00000326669.4|+|1|321|c.288A>G|c.(286-288)tgA>tgG|p.*96W|0.39650872817955113|GTGTCTACTGAAAAGGGAACC|TAB2_ENST00000367456.1_INTRON/TAB2_ENST00000538427.1_INTRON/TAB2_ENST00000286332.5_INTRON/TAB2_ENST00000536230.1_INTRON|||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471051|NM_001002255.1|NP_001002255.1|HGNC:21181|small_%20_ubiquitin-like_%20_modifier_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SMT3H4_%2C__%20_IDDM5|"SMT3_%20_suppressor_%20_of_%20_mif_%20_two_%20_3_%20_homolog_%20_4_%20_(yeast)"_%2C__%20_"SMT3_%20_suppressor_%20_of_%20_mif_%20_two_%20_3_%20_homolog_%20_4_%20_(S._%20_cerevisiae)"_%2C__%20_"insulin-dependent_%20_diabetes_%20_mellitus_%20_5"|dJ281H8.4||6q25.1|2015-09-09|2004-05-19|2013-06-05|||387082|ENSG00000177688|15123604||||CCDS34549|OTTHUMG00000015785|387082|608829|NM_001002255|Q6EEV6|ENSG00000177688|uc003qml.4|SUMO4_HUMAN||A1L3W5|Q6EEV6|protein_%20_sumoylation_%20_(GO:0016925)|nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 160241547 exm2243431 T C . PASS FUNCOTATION=[PNLDC1|hg19|chr6|160241547|160241547|NONSTOP||SNP|T|T|C|g.chr6:160241547T>C|ENST00000392167.3|+|19|1628|c.1594T>C|c.(1594-1596)Tga>Cga|p.*532R|0.5336658354114713|ATCTGGTACCTGAGTGCAGCG|PNLDC1_ENST00000610273.1_NONSTOP_p.*521R|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471051|NM_001271862.1|NP_001258791.1|HGNC:21185|PARN_%20_like_%2C__%20_ribonuclease_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"poly(A)-specific_%20_ribonuclease_%20_(PARN)-like_%20_domain_%20_containing_%20_1"|FLJ40240_%2C__%20_dJ195P10.2||6q25.3|2016-04-25||2015-11-18|AK097559||154197|ENSG00000146453||NM_173516|||CCDS5271_%2C__%20_CCDS64561|OTTHUMG00000015941|154197||NM_001271862|Q8NA58|ENSG00000146453|uc003qsy.3|PNDC1_HUMAN||Q5TAP7_%7C_Q8N7X5|Q8NA58||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)|nucleic_%20_acid_%20_binding_%20_(GO:0003676)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 166308924 rs10806835 G A . PASS FUNCOTATION=[SDIM1|hg19|chr6|166308924|166308924|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr6:166308924G>A|ENST00000545867.1|-|1|||||0.5411471321695761|AGGATCCTCCGTGGTGGCTTT|PDE10A_ENST00000535229.1_INTRON|||||||||||||||||||||||||||||||||AL590482|||HGNC:38749|stress_%20_responsive_%20_DNAJB4_%20_interacting_%20_membrane_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||6q27|2011-01-31|||AK129633||100505705||21255413|XM_003118900|||||100505705|||Q6ZPB5|||SDIM1_HUMAN|||Q6ZPB5|cellular_%20_response_%20_to_%20_stress_%20_(GO:0033554)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_death_%20_(GO:0060548)_%7C_neuron_%20_apoptotic_%20_process_%20_(GO:0051402)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 20685486 indel.94825 G GA . PASS FUNCOTATION=[ABCB5|hg19|chr7|20685486|20685487|FRAME_SHIFT_INS||INS|-|-|A|g.chr7:20685486_20685487insA|ENST00000404938.2|+|8|1438|c.786_787insA|c.(787-789)gagfs|p.E263fs|0.3725|TAGGGCCCAGGAGAAAGAAC|ABCB5_ENST00000258738.6_FIVE_PRIME_FLANK/ABCB5_ENST00000406935.1_FIVE_PRIME_FLANK/ABCB5_ENST00000443026.2_FIVE_PRIME_FLANK/ABCB5_ENST00000477094.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||157|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_lung(1)_%7C_oesophagus(3)_%7C_pancreas(22)|||||||GU437216|NM_001163941.1|NP_001157413.1|HGNC:46|ATP_%20_binding_%20_cassette_%20_subfamily_%20_B_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ATP-binding_%20_cassette_%2C__%20_sub-family_%20_B_%20_(MDR/TAP)_%2C__%20_member_%20_5"|EST422562_%2C__%20_ABCB5beta_%2C__%20_ABCB5alpha|"P-glycoprotein_%20_ABCB5"_%2C__%20_"ATP-binding_%20_cassette_%20_protein"|7p21.1|2016-10-05||2015-11-13|U66692||340273|ENSG00000004846|8894702_%2C__%20_12960149|NM_178559|806|ATP_%20_binding_%20_cassette_%20_subfamily_%20_B|CCDS5371_%2C__%20_CCDS55090_%2C__%20_CCDS55091_%2C__%20_CCDS55092|OTTHUMG00000094789|340273|611785|NM_001163941|Q2M3G0|ENSG00000004846|uc010kuh.4|ABCB5_HUMAN||A4D131_%7C_A7BKA4_%7C_B5MD19_%7C_B7WPL1_%7C_F8QQP8_%7C_F8QQP9_%7C_J3KQ04_%7C_Q2M3I5_%7C_Q5I5Q7_%7C_Q5I5Q8_%7C_Q6KG50_%7C_Q6XFQ5_%7C_Q8IXA1|Q2M3G0|antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_endogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_via_%20_ER_%20_pathway_%2C__%20_TAP-dependent_%20_(GO:0002485)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_endogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_Ib_%20_via_%20_ER_%20_pathway_%2C__%20_TAP-dependent_%20_(GO:0002489)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_protein_%20_antigen_%20_via_%20_MHC_%20_class_%20_Ib_%2C__%20_TAP-dependent_%20_(GO:0002481)_%7C_cell_%20_differentiation_%20_(GO:0030154)_%7C_compound_%20_eye_%20_corneal_%20_lens_%20_development_%20_(GO:0048058)_%7C_positive_%20_regulation_%20_of_%20_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_(GO:0002591)_%7C_regulation_%20_of_%20_membrane_%20_potential_%20_(GO:0042391)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ATP_%20_binding_%20_(GO:0005524)_%7C_ATPase_%20_activity_%2C__%20_coupled_%20_to_%20_transmembrane_%20_movement_%20_of_%20_substances_%20_(GO:0042626)_%7C_efflux_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015562)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 23338972 exm609536 A G . PASS FUNCOTATION=[MALSU1|hg19|chr7|23338972|23338972|START_CODON_SNP||SNP|A|A|G|g.chr7:23338972A>G|ENST00000466681.1|+|1|154|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6708229426433915|GGCTGCTGCTATGGGGCCGGG|MALSU1_ENST00000479974.1_INTRON|||||||||||||||||||||||||||||||||CH471073|NM_138446.1|NP_612455.1|HGNC:21721|mitochondrial_%20_assembly_%20_of_%20_ribosomal_%20_large_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C7orf30|"chromosome_%20_7_%20_open_%20_reading_%20_frame_%20_30"|mtRsfA||7p15.3|2014-11-19|2012-02-20|2012-02-20|BC012331||115416|ENSG00000156928|22238376_%2C__%20_22238375|NM_138446|||CCDS5381|OTTHUMG00000128443|115416|614624|NM_138446|Q96EH3|ENSG00000156928|uc003swd.2|MASU1_HUMAN||A4D154|Q96EH3|negative_%20_regulation_%20_of_%20_mitochondrial_%20_translation_%20_(GO:0070130)_%7C_ribosomal_%20_large_%20_subunit_%20_biogenesis_%20_(GO:0042273)|mitochondrion_%20_(GO:0005739)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 23749905 exm609783 A T . PASS FUNCOTATION=[STK31|hg19|chr7|23749905|23749905|START_CODON_SNP||SNP|A|A|T|g.chr7:23749905A>T|ENST00000355870.3|+|1|120|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.6234413965087282|AAAGTCCAGTATGTGGGTCCA|STK31_ENST00000433467.2_START_CODON_SNP_p.M1L/STK31_ENST00000354639.3_FIVE_PRIME_FLANK/STK31_ENST00000428484.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||453|biliary_tract(2)_%7C_breast(27)_%7C_central_nervous_system(60)_%7C_haematopoietic_and_lymphoid_tissue(54)_%7C_kidney(46)_%7C_large_intestine(71)_%7C_lung(52)_%7C_ovary(52)_%7C_pancreas(22)_%7C_stomach(54)_%7C_testis(13)|||||||BC059374|NM_031414.4|NP_113602.2|HGNC:11407|serine/threonine_%20_kinase_%20_31|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||TDRD8_%2C__%20_SgK396||7p15.3|2014-11-19|||AF285599||56164|ENSG00000196335|11279525|NM_031414|780|Tudor_%20_domain_%20_containing|CCDS5386_%2C__%20_CCDS43556_%2C__%20_CCDS59049|OTTHUMG00000023053|56164|605790|NM_001260504|Q9BXU1|ENSG00000196335|uc003sws.6|STK31_HUMAN||B4DZ06_%7C_B7WPP5_%7C_C9J4F9_%7C_Q6PCD3_%7C_Q9BXH8|Q9BXU1||acrosomal_%20_vesicle_%20_(GO:0001669)|ATP_%20_binding_%20_(GO:0005524)_%7C_hydrolase_%20_activity_%2C__%20_acting_%20_on_%20_ester_%20_bonds_%20_(GO:0016788)_%7C_nucleic_%20_acid_%20_binding_%20_(GO:0003676)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 27181455 indel.95055 CAG C . PASS FUNCOTATION=[HOXA5|hg19|chr7|27181456|27181457|NONSTOP||DEL|AG|AG|-|g.chr7:27181456_27181457delAG|ENST00000222726.3|-|2|873_874|c.810_811delCT|c.(808-810)cccfs|p.*271fs|0.4651741293532338|TCAGATACTCAGGGACGGAAGG|RP1-170O19.22_ENST00000467897.2_RNA/HOXA-AS3_ENST00000521197.1_RNA/HOXA-AS3_ENST00000518848.1_RNA/HOXA5_ENST00000520854.1_INTRON/HOXA3_ENST00000521401.1_FIVE_PRIME_FLANK|Colon(119_%3B_75_%20_2200_%20_7557_%20_42868)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M26679|NM_019102.3|NP_061975.2|HGNC:5106|homeobox_%20_A5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HOX1C_%2C__%20_HOX1|"homeo_%20_box_%20_A5"|||7p15.2|2015-09-07||2005-12-22|||3202|ENSG00000106004|1973146_%2C__%20_1358459||518|HOXL_%20_subclass_%20_homeoboxes|CCDS5406|OTTHUMG00000023214|3202|142952|NM_019102|P20719|ENSG00000106004|uc003syn.2|HXA5_HUMAN||A4D179_%7C_O43367_%7C_Q96CY6|P20719|anterior/posterior_%20_pattern_%20_specification_%20_(GO:0009952)_%7C_bronchiole_%20_development_%20_(GO:0060435)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_cell-cell_%20_signaling_%20_involved_%20_in_%20_mammary_%20_gland_%20_development_%20_(GO:0060764)_%7C_embryonic_%20_skeletal_%20_system_%20_morphogenesis_%20_(GO:0048704)_%7C_epithelial_%20_tube_%20_branching_%20_involved_%20_in_%20_lung_%20_morphogenesis_%20_(GO:0060441)_%7C_intestinal_%20_epithelial_%20_cell_%20_maturation_%20_(GO:0060574)_%7C_lung_%20_alveolus_%20_development_%20_(GO:0048286)_%7C_lung_%20_goblet_%20_cell_%20_differentiation_%20_(GO:0060480)_%7C_lung-associated_%20_mesenchyme_%20_development_%20_(GO:0060484)_%7C_mammary_%20_gland_%20_alveolus_%20_development_%20_(GO:0060749)_%7C_mammary_%20_gland_%20_epithelial_%20_cell_%20_differentiation_%20_(GO:0060644)_%7C_mesenchymal-epithelial_%20_cell_%20_signaling_%20_(GO:0060638)_%7C_multicellular_%20_organism_%20_growth_%20_(GO:0035264)_%7C_negative_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0016525)_%7C_negative_%20_regulation_%20_of_%20_erythrocyte_%20_differentiation_%20_(GO:0045647)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_myeloid_%20_cell_%20_differentiation_%20_(GO:0045639)_%7C_positive_%20_regulation_%20_of_%20_receptor_%20_biosynthetic_%20_process_%20_(GO:0010870)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_regulation_%20_of_%20_mammary_%20_gland_%20_epithelial_%20_cell_%20_proliferation_%20_(GO:0033599)_%7C_respiratory_%20_system_%20_process_%20_(GO:0003016)_%7C_thyroid_%20_gland_%20_development_%20_(GO:0030878)_%7C_trachea_%20_cartilage_%20_morphogenesis_%20_(GO:0060535)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 33134847 var_7_33134847 CA C . PASS FUNCOTATION=[RP9|hg19|chr7|33134848|33134848|NONSTOP||DEL|A|A|-|g.chr7:33134848delA|ENST00000297157.3|-|6|683|c.664delT|c.(664-666)tgafs|p.*222fs|0.4488778054862843|CATCCTTGTCACTCTGAGTCA||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC025928|NM_203288.1|NP_976033.1|HGNC:10288|RP9_%2C__%20_pre-mRNA_%20_splicing_%20_factor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"retinitis_%20_pigmentosa_%20_9_%20_(autosomal_%20_dominant)"|PAP-1|"Pim-1_%20_kinase_%20_associated_%20_protein"|7p14.3|2017-07-07||2017-07-07|AX016710||6100|ENSG00000164610|8513323_%2C__%20_15474994|NM_203288|||CCDS5440|OTTHUMG00000152988|6100|607331|NM_203288|Q8TA86|ENSG00000164610|uc003tdm.4|RP9_HUMAN|||Q8TA86|cognition_%20_(GO:0050890)_%7C_RNA_%20_splicing_%20_(GO:0008380)|nucleus_%20_(GO:0005634)_%7C_signal_%20_recognition_%20_particle_%20_receptor_%20_complex_%20_(GO:0005785)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 48278997 indel.95654 C CGGTA . PASS FUNCOTATION=[ABCA13|hg19|chr7|48278997|48278998|FRAME_SHIFT_INS||INS|-|-|GGTA|g.chr7:48278997_48278998insGGTA|ENST00000435803.1|+|9|1081|c.1057_1058insGGTA|c.(1057-1059)caafs|p.Q353fs|0.495|CGAGTCTACCAACAGGTGCT||||||||||||||||||||||||||107|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(45)_%7C_large_intestine(11)_%7C_oesophagus(16)_%7C_pancreas(22)|||||||AY204751|NM_152701.3|NP_689914.2|HGNC:14638|ATP_%20_binding_%20_cassette_%20_subfamily_%20_A_%20_member_%20_13|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"ATP-binding_%20_cassette_%2C__%20_sub-family_%20_A_%20_(ABC1)_%2C__%20_member_%20_13"|FLJ33876_%2C__%20_FLJ33951||7p12.3|2015-11-13||2015-11-13|AY204751||154664|ENSG00000179869|12697998|NM_152701|805|ATP_%20_binding_%20_cassette_%20_subfamily_%20_A|CCDS47584|OTTHUMG00000155840|154664|607807|NM_152701|Q86UQ4|ENSG00000179869|uc003toq.2|ABCAD_HUMAN||K9LC76_%7C_K9LC79_%7C_K9LCX7_%7C_K9LDK8_%7C_K9LDY4_%7C_Q6ZTT7_%7C_Q86WI2_%7C_Q8N248|Q86UQ4|transport_%20_(GO:0006810)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|ATP_%20_binding_%20_(GO:0005524)_%7C_ATPase_%20_activity_%20_(GO:0016887)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 54610426 exm621856 G A . PASS FUNCOTATION=[VSTM2A|hg19|chr7|54610426|54610426|START_CODON_SNP||SNP|G|G|A|g.chr7:54610426G>A|ENST00000404951.1|+|1|318|c.3G>A|c.(1-3)atG>atA|p.M1I|0.4837905236907731|TTTTTGGAATGATGGGGATCT|VSTM2A_ENST00000407838.3_START_CODON_SNP_p.M1I/VSTM2A_ENST00000302287.3_START_CODON_SNP_p.M1I/VSTM2A_ENST00000402613.3_START_CODON_SNP_p.M1I/VSTM2A_ENST00000402026.2_FIVE_PRIME_UTR/VSTM2A_ENST00000498834.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||1|large_intestine(1)|||||||AC069313|||HGNC:28499|V-set_%20_and_%20_transmembrane_%20_domain_%20_containing_%20_2A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|VSTM2|"V-set_%20_and_%20_transmembrane_%20_domain_%20_containing_%20_2"|MGC33530||7p11.2|2014-11-19|2007-08-10|2007-08-10|BC028404||222008|ENSG00000170419|12477932|NM_182546|590|V-set_%20_domain_%20_containing|CCDS5512_%2C__%20_CCDS75604_%2C__%20_CCDS83185|OTTHUMG00000129271|222008||NM_001301009|Q8TAG5|ENSG00000170419|uc010kzf.4|VTM2A_HUMAN||A4D2E9_%7C_B5MC94|Q8TAG5||extracellular_%20_region_%20_(GO:0005576)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 64453403 exm623577 A T . PASS FUNCOTATION=[ERV3-1|hg19|chr7|64453403|64453403|START_CODON_SNP||SNP|A|A|T|g.chr7:64453403A>T|ENST00000394323.2|-|2|503|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.46384039900249374|CATACCCAGCATGGACAGAAA|ZNF117_ENST00000282869.6_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||M12140|NM_001007253.3|NP_001007254.2|HGNC:3454|endogenous_%20_retrovirus_%20_group_%20_3_%20_member_%20_1_%2C__%20_envelope|Approved|endogenous_%20_retrovirus|other|ERV3|"endogenous_%20_retroviral_%20_sequence_%20_3_%20_(includes_%20_zinc_%20_finger_%20_protein_%20_H-plk/HPF9)"_%2C__%20_"endogenous_%20_retroviral_%20_sequence_%20_3"_%2C__%20_"endogenous_%20_retrovirus_%20_group_%20_3_%2C__%20_member_%20_1"_%2C__%20_"endogenous_%20_retrovirus_%20_group_%20_3_%20_member_%20_1"|H-PLK_%2C__%20_HERV-R_%2C__%20_ERV-R_%2C__%20_envR||7q11.21|2017-03-30|2011-05-05|2017-03-30|AK295189||2086|ENSG00000213462|2115127_%2C__%20_6495650_%2C__%20_21542922|NM_001007253|1412|Envelope_%20_ERV_%20_derived_%20_genes|CCDS47595|OTTHUMG00000165023|2086|131170|NM_001007253|Q14264|ENSG00000213462|uc011kdr.3|ENR1_HUMAN|||Q14264||extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_viral_%20_envelope_%20_(GO:0019031)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 73442483 seq_chr7_73442483 G T . PASS FUNCOTATION=[ELN|hg19|chr7|73442483|73442483|DE_NOVO_START_IN_FRAME||SNP|G|G|T|g.chr7:73442483G>T|ENST00000252034.7|+|1|||||0.683291770573566|GATAAAACGAGGTGCGGAGAG|ELN_ENST00000414324.1_DE_NOVO_START_IN_FRAME/ELN_ENST00000320492.7_DE_NOVO_START_IN_FRAME/ELN_ENST00000445912.1_DE_NOVO_START_IN_FRAME/ELN_ENST00000380562.4_DE_NOVO_START_IN_FRAME/ELN_ENST00000358929.4_DE_NOVO_START_IN_FRAME/ELN_ENST00000320399.6_FIVE_PRIME_FLANK/ELN_ENST00000357036.5_FIVE_PRIME_FLANK/ELN_ENST00000380553.4_FIVE_PRIME_FLANK/ELN_ENST00000380575.4_FIVE_PRIME_FLANK/ELN_ENST00000380576.5_FIVE_PRIME_FLANK/ELN_ENST00000380584.4_FIVE_PRIME_FLANK/ELN_ENST00000429192.1_FIVE_PRIME_FLANK/ELN_ENST00000458204.1_FIVE_PRIME_FLANK||elastin|2006|7|7q11.23|yes||B-ALL|||L|Dom|T|PAX5|yes|"Supravalvular_%20_Aortic_%20_Stenosis_%2C__%20_Cutis_%20_laxa_%20__%2C__%20_Williams-Beuren_%20_Syndrome"|||||||||237|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(88)_%7C_large_intestine(70)_%7C_pancreas(22)|||||||X15603|NM_001278915.1|NP_001265844.1|HGNC:3327|elastin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||WBS_%2C__%20_WS_%2C__%20_SVAS|"tropoelastin"_%2C__%20_"supravalvular_%20_aortic_%20_stenosis"_%2C__%20_"Williams-Beuren_%20_syndrome"|7q11.23|2016-10-05||2008-08-01|||2006|ENSG00000049540|8096434|NM_000501|||CCDS5562_%2C__%20_CCDS43598_%2C__%20_CCDS43599_%2C__%20_CCDS47611_%2C__%20_CCDS47612_%2C__%20_CCDS64673_%2C__%20_CCDS64674_%2C__%20_CCDS64675_%2C__%20_CCDS64676_%2C__%20_CCDS64677_%2C__%20_CCDS64678_%2C__%20_CCDS75616_%2C__%20_CCDS75617|OTTHUMG00000150229|2006|130160|NM_000501|P15502|ENSG00000049540|uc003tzn.5|ELN_HUMAN||B3KTS6_%7C_O15336_%7C_O15337_%7C_Q14233_%7C_Q14234_%7C_Q14235_%7C_Q14238_%7C_Q6P0L4_%7C_Q6ZWJ6_%7C_Q75MU5_%7C_Q7Z316_%7C_Q7Z3F5_%7C_Q9UMF5|P15502|blood_%20_circulation_%20_(GO:0008015)_%7C_blood_%20_vessel_%20_remodeling_%20_(GO:0001974)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_extracellular_%20_matrix_%20_disassembly_%20_(GO:0022617)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_organ_%20_morphogenesis_%20_(GO:0009887)_%7C_regulation_%20_of_%20_actin_%20_filament_%20_polymerization_%20_(GO:0030833)_%7C_respiratory_%20_gaseous_%20_exchange_%20_(GO:0007585)_%7C_skeletal_%20_muscle_%20_tissue_%20_development_%20_(GO:0007519)_%7C_stress_%20_fiber_%20_assembly_%20_(GO:0043149)|elastic_%20_fiber_%20_(GO:0071953)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_mitochondrion_%20_(GO:0005739)_%7C_proteinaceous_%20_extracellular_%20_matrix_%20_(GO:0005578)|extracellular_%20_matrix_%20_binding_%20_(GO:0050840)_%7C_extracellular_%20_matrix_%20_constituent_%20_conferring_%20_elasticity_%20_(GO:0030023)_%7C_extracellular_%20_matrix_%20_structural_%20_constituent_%20_(GO:0005201)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 75932030 exm628281 A C . PASS FUNCOTATION=[HSPB1|hg19|chr7|75932030|75932030|START_CODON_SNP||SNP|A|A|C|g.chr7:75932030A>C|ENST00000248553.6|+|1|170|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.6783042394014963|GTCAGCCAGCATGACCGAGCG|HSPB1_ENST00000429938.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||615|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||Z23090|NM_001540.3|NP_001531.1|HGNC:5246|heat_%20_shock_%20_protein_%20_family_%20_B_%20_(small)_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"heat_%20_shock_%20_27kD_%20_protein_%20_1"_%2C__%20_"heat_%20_shock_%20_27kDa_%20_protein_%20_1"|HSP27_%2C__%20_HSP28_%2C__%20_Hs.76067_%2C__%20_Hsp25_%2C__%20_CMT2F||7q11.23|2017-03-24||2015-11-19|X54079||3315|ENSG00000106211|2243808_%2C__%20_9344682||585|Small_%20_heat_%20_shock_%20_proteins|CCDS5583|OTTHUMG00000023228|3315|602195|NM_001540|P04792|ENSG00000106211|uc003uew.4|HSPB1_HUMAN||B2R4N8_%7C_Q6FI47_%7C_Q96C20_%7C_Q96EI7_%7C_Q9UC31_%7C_Q9UC34_%7C_Q9UC35_%7C_Q9UC36|P04792|cell_%20_death_%20_(GO:0008219)_%7C_cellular_%20_component_%20_movement_%20_(GO:0006928)_%7C_cellular_%20_response_%20_to_%20_vascular_%20_endothelial_%20_growth_%20_factor_%20_stimulus_%20_(GO:0035924)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_mRNA_%20_metabolic_%20_process_%20_(GO:0016071)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1902176)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_platelet_%20_aggregation_%20_(GO:0070527)_%7C_positive_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0045766)_%7C_positive_%20_regulation_%20_of_%20_blood_%20_vessel_%20_endothelial_%20_cell_%20_migration_%20_(GO:0043536)_%7C_positive_%20_regulation_%20_of_%20_endothelial_%20_cell_%20_chemotaxis_%20_(GO:2001028)_%7C_positive_%20_regulation_%20_of_%20_endothelial_%20_cell_%20_chemotaxis_%20_by_%20_VEGF-activated_%20_vascular_%20_endothelial_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038033)_%7C_positive_%20_regulation_%20_of_%20_interleukin-1_%20_beta_%20_production_%20_(GO:0032731)_%7C_positive_%20_regulation_%20_of_%20_tumor_%20_necrosis_%20_factor_%20_biosynthetic_%20_process_%20_(GO:0042535)_%7C_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043122)_%7C_regulation_%20_of_%20_translational_%20_initiation_%20_(GO:0006446)_%7C_response_%20_to_%20_unfolded_%20_protein_%20_(GO:0006986)_%7C_response_%20_to_%20_virus_%20_(GO:0009615)_%7C_retina_%20_homeostasis_%20_(GO:0001895)_%7C_RNA_%20_metabolic_%20_process_%20_(GO:0016070)|cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_proteasome_%20_complex_%20_(GO:0000502)_%7C_Z_%20_disc_%20_(GO:0030018)|identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_protein_%20_kinase_%20_C_%20_binding_%20_(GO:0005080)_%7C_protein_%20_kinase_%20_C_%20_inhibitor_%20_activity_%20_(GO:0008426)_%7C_ubiquitin_%20_binding_%20_(GO:0043130)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 93551452 exm634970 G C . PASS FUNCOTATION=[GNG11|hg19|chr7|93551452|93551452|START_CODON_SNP||SNP|G|G|C|g.chr7:93551452G>C|ENST00000248564.5|+|1|442|c.3G>C|c.(1-3)atG>atC|p.M1I|0.5561097256857855|GGGCGAAAATGCCTGCCCTTC||||||||||||||||||||||||||580|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(488)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_soft_tissue(1)|||||||U31384|NM_004126.3|NP_004117.1|HGNC:4403|G_%20_protein_%20_subunit_%20_gamma_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"guanine_%20_nucleotide_%20_binding_%20_protein_%20_(G_%20_protein)_%2C__%20_gamma_%20_11"|GNGT11|"G_%20_protein_%20_gamma-11_%20_subunit"_%2C__%20_"guanine_%20_nucleotide-binding_%20_protein_%20_G(I)/G(S)/G(O)_%20_gamma-11_%20_subunit"|7q21.3|2016-10-05||2016-03-03|||2791|ENSG00000127920|7665596|NM_004126|1432|G_%20_protein_%20_subunits_%20_gamma|CCDS5634|OTTHUMG00000023411|2791|604390|NM_004126|P61952|ENSG00000127920|uc003und.4|GBG11_HUMAN||P50152|P61952|cellular_%20_response_%20_to_%20_glucagon_%20_stimulus_%20_(GO:0071377)_%7C_energy_%20_reserve_%20_metabolic_%20_process_%20_(GO:0006112)_%7C_G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)_%7C_GTP_%20_catabolic_%20_process_%20_(GO:0006184)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|heterotrimeric_%20_G-protein_%20_complex_%20_(GO:0005834)_%7C_plasma_%20_membrane_%20_(GO:0005886)|GTPase_%20_activity_%20_(GO:0003924)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 99264234 indel.96884 T TA . PASS FUNCOTATION=[CYP3A5|hg19|chr7|99264234|99264235|FRAME_SHIFT_INS||INS|-|-|A|g.chr7:99264234_99264235insA|ENST00000222982.4|-|6|611|c.510_511insT|c.(511-513)accfs|p.T171fs|0.5025|CTTTCAAGGTGACAGGCTTG|CYP3A5_ENST00000343703.5_FRAME_SHIFT_INS_p.T161fs/CYP3A5_ENST00000339843.2_THREE_PRIME_UTR|||||||||||||||||||||||||173|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(61)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_skin(43)_%7C_soft_tissue(22)|||||||S74700|NM_000777.3|NP_000768.1|HGNC:2638|cytochrome_%20_P450_%20_family_%20_3_%20_subfamily_%20_A_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"cytochrome_%20_P450_%2C__%20_subfamily_%20_IIIA_%20_(niphedipine_%20_oxidase)_%2C__%20_polypeptide_%20_5"_%2C__%20_"cytochrome_%20_P450_%2C__%20_family_%20_3_%2C__%20_subfamily_%20_A_%2C__%20_polypeptide_%20_5"|PCN3_%2C__%20_P450PCN3_%2C__%20_CP35||7q22.1|2016-10-05||2015-12-09|L26985||1577|ENSG00000106258|||1002|Cytochrome_%20_P450_%20_family_%20_3|CCDS5672_%2C__%20_CCDS55134|OTTHUMG00000156724|1577|605325|NM_000777|P20815|ENSG00000106258|uc003urq.4|CP3A5_HUMAN|ado-trastuzumab_%20_emtansine(DB05773)_%7C_Alfentanil(DB00802)_%7C_Alprazolam(DB00404)_%7C_Amiodarone(DB01118)_%7C_Amitriptyline(DB00321)_%7C_Amlodipine(DB00381)_%7C_Amprenavir(DB00701)_%7C_Apixaban(DB06605)_%7C_Aprepitant(DB00673)_%7C_Argatroban(DB00278)_%7C_Aripiprazole(DB01238)_%7C_Artemether(DB06697)_%7C_Astemizole(DB00637)_%7C_Atorvastatin(DB01076)_%7C_Axitinib(DB06626)_%7C_Azelastine(DB00972)_%7C_Beclomethasone(DB00394)_%7C_Boceprevir(DB08873)_%7C_Brentuximab_%20_vedotin(DB08870)_%7C_Buprenorphine(DB00921)_%7C_Buspirone(DB00490)_%7C_Cabazitaxel(DB06772)_%7C_Caffeine(DB00201)_%7C_Carbamazepine(DB00564)_%7C_Chloramphenicol(DB00446)_%7C_Chloroquine(DB00608)_%7C_Chlorphenamine(DB01114)_%7C_Cilostazol(DB01166)_%7C_Cimetidine(DB00501)_%7C_Ciprofloxacin(DB00537)_%7C_Cisapride(DB00604)_%7C_Clarithromycin(DB01211)_%7C_Clonidine(DB00575)_%7C_Clopidogrel(DB00758)_%7C_Cocaine(DB00907)_%7C_Codeine(DB00318)_%7C_Crizotinib(DB08865)_%7C_Cyclophosphamide(DB00531)_%7C_Cyclosporine(DB00091)_%7C_Dapsone(DB00250)_%7C_Dasatinib(DB01254)_%7C_Daunorubicin(DB00694)_%7C_Delavirdine(DB00705)_%7C_Dexamethasone(DB01234)_%7C_Dextromethorphan(DB00514)_%7C_Diazepam(DB00829)_%7C_Diltiazem(DB00343)_%7C_Disulfiram(DB00822)_%7C_Docetaxel(DB01248)_%7C_Dolutegravir(DB08930)_%7C_Domperidone(DB01184)_%7C_Dutasteride(DB01126)_%7C_Enzalutamide(DB08899)_%7C_Eplerenone(DB00700)_%7C_Erlotinib(DB00530)_%7C_Erythromycin(DB00199)_%7C_Estradiol(DB00783)_%7C_Estrone(DB00655)_%7C_Ethosuximide(DB00593)_%7C_Etoposide(DB00773)_%7C_Felodipine(DB01023)_%7C_Fentanyl(DB00813)_%7C_Finasteride(DB01216)_%7C_Fluconazole(DB00196)_%7C_Fluoxetine(DB00472)_%7C_Flutamide(DB00499)_%7C_Fluticasone_%20_Propionate(DB00588)_%7C_Fluvastatin(DB01095)_%7C_Fluvoxamine(DB00176)_%7C_Gefitinib(DB00317)_%7C_Gestodene(DB06730)_%7C_Granisetron(DB00889)_%7C_Halofantrine(DB01218)_%7C_Haloperidol(DB00502)_%7C_Hydrocortisone(DB00741)_%7C_Ifosfamide(DB01181)_%7C_Iloperidone(DB04946)_%7C_Imatinib(DB00619)_%7C_Indinavir(DB00224)_%7C_Irinotecan(DB00762)_%7C_Itraconazole(DB01167)_%7C_Ketoconazole(DB01026)_%7C_Lapatinib(DB01259)_%7C_Lercanidipine(DB00528)_%7C_Levomethadyl_%20_Acetate(DB01227)_%7C_Lidocaine(DB00281)_%7C_Losartan(DB00678)_%7C_Lovastatin(DB00227)_%7C_Methadone(DB00333)_%7C_Midazolam(DB00683)_%7C_Mifepristone(DB00834)_%7C_Modafinil(DB00745)_%7C_Mycophenolate_%20_mofetil(DB00688)_%7C_Nateglinide(DB00731)_%7C_Nefazodone(DB01149)_%7C_Nelfinavir(DB00220)_%7C_Nevirapine(DB00238)_%7C_Nicardipine(DB00622)_%7C_Nifedipine(DB01115)_%7C_Nimodipine(DB00393)_%7C_Nisoldipine(DB00401)_%7C_Nitrendipine(DB01054)_%7C_Norethindrone(DB00717)_%7C_Norfloxacin(DB01059)_%7C_Nortriptyline(DB00540)_%7C_Ondansetron(DB00904)_%7C_Oxazepam(DB00842)_%7C_Oxcarbazepine(DB00776)_%7C_Oxybutynin(DB01062)_%7C_Oxycodone(DB00497)_%7C_Paclitaxel(DB01229)_%7C_Paliperidone(DB01267)_%7C_Pentamidine(DB00738)_%7C_Perampanel(DB08883)_%7C_Phenelzine(DB00780)_%7C_Phenobarbital(DB01174)_%7C_Phenytoin(DB00252)_%7C_Pimozide(DB01100)_%7C_Ponatinib(DB08901)_%7C_Pravastatin(DB00175)_%7C_Praziquantel(DB01058)_%7C_Progesterone(DB00396)_%7C_Propranolol(DB00571)_%7C_Quetiapine(DB01224)_%7C_Quinacrine(DB01103)_%7C_Quinine(DB00468)_%7C_Ranitidine(DB00863)_%7C_Reserpine(DB00206)_%7C_Rifampicin(DB01045)_%7C_Rifapentine(DB01201)_%7C_Risperidone(DB00734)_%7C_Ritonavir(DB00503)_%7C_Rivaroxaban(DB06228)_%7C_Rosuvastatin(DB01098)_%7C_Salmeterol(DB00938)_%7C_Saquinavir(DB01232)_%7C_Saxagliptin(DB06335)_%7C_Sildenafil(DB00203)_%7C_Simvastatin(DB00641)_%7C_Sirolimus(DB00877)_%7C_Sorafenib(DB00398)_%7C_Sulfasalazine(DB00795)_%7C_Sunitinib(DB01268)_%7C_Tacrolimus(DB00864)_%7C_Tamoxifen(DB00675)_%7C_Telithromycin(DB00976)_%7C_Temsirolimus(DB06287)_%7C_Teniposide(DB00444)_%7C_Testosterone(DB00624)_%7C_Thalidomide(DB01041)_%7C_Trazodone(DB00656)_%7C_Tretinoin(DB00755)_%7C_Triazolam(DB00897)_%7C_Troleandomycin(DB01361)_%7C_Udenafil(DB06267)_%7C_Valproic_%20_Acid(DB00313)_%7C_Vardenafil(DB00862)_%7C_Verapamil(DB00661)_%7C_Vincristine(DB00541)_%7C_Voriconazole(DB00582)_%7C_Zalcitabine(DB00943)_%7C_Zaleplon(DB00962)_%7C_Ziprasidone(DB00246)_%7C_Zolpidem(DB00425)|A4D289_%7C_B7Z5I7_%7C_Q53WY8_%7C_Q75MV0_%7C_Q9HB56|P20815|alkaloid_%20_catabolic_%20_process_%20_(GO:0009822)_%7C_drug_%20_catabolic_%20_process_%20_(GO:0042737)_%7C_oxidative_%20_demethylation_%20_(GO:0070989)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_steroid_%20_metabolic_%20_process_%20_(GO:0008202)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)|aromatase_%20_activity_%20_(GO:0070330)_%7C_heme_%20_binding_%20_(GO:0020037)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)_%7C_monooxygenase_%20_activity_%20_(GO:0004497)_%7C_oxidoreductase_%20_activity_%20_(GO:0016491)_%7C_oxygen_%20_binding_%20_(GO:0019825)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 99514391 indel.96936 A AC . PASS FUNCOTATION=[TRIM4|hg19|chr7|99514391|99514392|FRAME_SHIFT_INS||INS|-|-|C|g.chr7:99514391_99514392insC|ENST00000355947.2|-|2|535|c.404_405insG|c.(403-405)tttfs|p.F135fs|0.4375|GTGGATGTCAAAGTTACCTG|TRIM4_ENST00000349062.2_INTRON/TRIM4_ENST00000354241.5_INTRON|||||||||||||||||||||||||271|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471091|NM_033017.3|NP_148977.2|HGNC:16275|tripartite_%20_motif_%20_containing_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tripartite_%20_motif-containing_%20_4"|RNF87|"tripartite_%20_motif_%20_protein_%20_TRIM4"_%2C__%20_"tripartite_%20_motif_%20_protein_%20_4"|7q22.1|2016-10-05||2011-01-25|AF220023||89122|ENSG00000146833|11331580|NM_033017|59_%7C_58|Tripartite_%20_motif_%20_containing_%7C_Ring_%20_finger_%20_proteins|CCDS5678_%2C__%20_CCDS5679|OTTHUMG00000156648|89122||NM_033017|Q9C037|ENSG00000146833|uc003usd.4|TRIM4_HUMAN||A4D298_%7C_Q75MK1_%7C_Q96F06_%7C_Q9C036|Q9C037|protein_%20_trimerization_%20_(GO:0070206)|cytoplasm_%20_(GO:0005737)_%7C_plasma_%20_membrane_%20_(GO:0005886)|zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 99527243 exm2158709 T C . PASS FUNCOTATION=[GJC3|hg19|chr7|99527243|99527243|START_CODON_SNP||SNP|T|T|C|g.chr7:99527243T>C|ENST00000312891.2|-|1|1|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5336658354114713|CTGCCACACATCCTGTTTTGG|RP4-604G5.1_ENST00000456499.1_RNA|||||||||||||||||||||||||23|central_nervous_system(22)_%7C_lung(1)|||||||CH471091|NM_181538.2|NP_853516.1|HGNC:17495|gap_%20_junction_%20_protein_%20_gamma_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GJE1|"gap_%20_junction_%20_protein_%2C__%20_epsilon_%20_1_%2C__%20_29kDa"_%2C__%20_"gap_%20_junction_%20_protein_%2C__%20_gamma_%20_3_%2C__%20_30.2kDa"|CX30.2|"connexin_%20_30.2"|7q22.1|2015-11-09|2007-11-06|2015-11-09|AF503615||349149|ENSG00000176402||NM_181538|314|Gap_%20_junction_%20_proteins|CCDS34697|OTTHUMG00000156649|349149|611925|NM_181538|Q8NFK1|ENSG00000176402|uc011kjd.2|CXG3_HUMAN||A4D296_%7C_Q86XI9|Q8NFK1|cell_%20_communication_%20_(GO:0007154)_%7C_myelination_%20_(GO:0042552)_%7C_sensory_%20_perception_%20_of_%20_sound_%20_(GO:0007605)|connexon_%20_complex_%20_(GO:0005922)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_myelin_%20_sheath_%20_(GO:0043209)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 99757553 exm639976 A G . PASS FUNCOTATION=[GAL3ST4|hg19|chr7|99757553|99757553|NONSTOP||SNP|A|A|G|g.chr7:99757553A>G|ENST00000360039.4|-|4|1852|c.1459T>C|c.(1459-1461)Taa>Caa|p.*487Q|0.5486284289276808|TCTGATGTTTATGGGGAGAGT|GAL3ST4_ENST00000413800.1_NONSTOP_p.*487Q/GAL3ST4_ENST00000423751.1_THREE_PRIME_UTR/GAL3ST4_ENST00000411994.1_THREE_PRIME_UTR/GAL3ST4_ENST00000426974.2_NONSTOP_p.*425Q/C7orf43_ENST00000316937.3_FIVE_PRIME_FLANK/C7orf43_ENST00000394035.2_FIVE_PRIME_FLANK/C7orf43_ENST00000419841.1_FIVE_PRIME_FLANK/C7orf43_ENST00000457641.1_FIVE_PRIME_FLANK/C7orf43_ENST00000498638.1_FIVE_PRIME_FLANK/MIR4658_ENST00000584344.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||44|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)|||||||CH471091|NM_024637.4|NP_078913.3|HGNC:24145|galactose-3-O-sulfotransferase_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ12116||7q22.1|2014-11-18|||AF316113||79690|ENSG00000197093|11333265|NM_024637|763|Sulfotransferases_%2C__%20_membrane_%20_bound|CCDS5688|OTTHUMG00000154885|79690|608235|NM_024637|Q96RP7|ENSG00000197093|uc003utu.4|G3ST4_HUMAN||A4D2A8_%7C_B4DWL8_%7C_D6W5U5_%7C_Q8N3P7_%7C_Q8WZ17_%7C_Q96E33_%7C_Q9HA78|Q96RP7|cell-cell_%20_signaling_%20_(GO:0007267)_%7C_glycoprotein_%20_metabolic_%20_process_%20_(GO:0009100)_%7C_oligosaccharide_%20_metabolic_%20_process_%20_(GO:0009311)_%7C_proteoglycan_%20_biosynthetic_%20_process_%20_(GO:0030166)_%7C_sulfur_%20_compound_%20_metabolic_%20_process_%20_(GO:0006790)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)|3'-phosphoadenosine_%20_5'-phosphosulfate_%20_binding_%20_(GO:0050656)_%7C_galactose_%20_3-O-sulfotransferase_%20_activity_%20_(GO:0050694)_%7C_galactosylceramide_%20_sulfotransferase_%20_activity_%20_(GO:0001733)_%7C_proteoglycan_%20_sulfotransferase_%20_activity_%20_(GO:0050698)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 100486464 exm643029 T G . PASS FUNCOTATION=[UFSP1|hg19|chr7|100486464|100486464|NONSTOP||SNP|T|T|G|g.chr7:100486464T>G|ENST00000388761.2|-|1|876|c.429A>C|c.(427-429)tgA>tgC|p.*143C|0.5411471321695761|AACTTCGTCCTCAGTCCAAGG||||||||||||||||||||||||||22|central_nervous_system(22)|||||||CH236956|NM_001015072.3|NP_001015072.2|HGNC:33821|UFM1_%20_specific_%20_peptidase_%20_1_%20_(inactive)|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"UFM1-specific_%20_peptidase_%20_1_%20_(non-functional)"|UFSP||7q22.1|2016-07-04||2016-07-04|AF312032||402682|ENSG00000176125|17182609_%2C__%20_18321862|NM_001015072|||CCDS34710|OTTHUMG00000159662|402682|611481|NM_001015072|Q6NVU6|ENSG00000176125|uc003uxc.4|UFSP1_HUMAN||A4D2E4_%7C_A8K8V2_%7C_B6ZDG6_%7C_Q9BXP6|Q6NVU6||extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|thiolester_%20_hydrolase_%20_activity_%20_(GO:0016790)_%7C_UFM1_%20_hydrolase_%20_activity_%20_(GO:0071567)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 102524676 indel.97387 C CA . PASS FUNCOTATION=[FBXL13|hg19|chr7|102524676|102524677|FRAME_SHIFT_INS||INS|-|-|A|g.chr7:102524676_102524677insA|ENST00000313221.4|-|12|1519|c.1091_1092insT|c.(1090-1092)acgfs|p.D365fs|0.32|ACAGTTGTCCGTCAGAGTTG|FBXL13_ENST00000436908.1_FRAME_SHIFT_INS_p.D365fs/FBXL13_ENST00000393772.2_FRAME_SHIFT_INS_p.D365fs/FBXL13_ENST00000379308.3_FRAME_SHIFT_INS_p.D365fs/FBXL13_ENST00000379305.3_FRAME_SHIFT_INS_p.D365fs/FBXL13_ENST00000455112.2_FRAME_SHIFT_INS_p.D365fs/FBXL13_ENST00000379306.3_INTRON/FBXL13_ENST00000456695.1_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC031285|NM_145032.3|NP_659469.3|HGNC:21658|F-box_%20_and_%20_leucine_%20_rich_%20_repeat_%20_protein_%20_13|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC21636_%2C__%20_Fbl13_%2C__%20_DRC6||7q22.1|2016-06-06||2016-06-06|BC031285||222235|ENSG00000161040||NM_145032|981_%7C_558_%7C_1491|Dynein_%20_regulatory_%20_complex_%7C_F-box_%20_and_%20_leucine_%20_rich_%20_repeat_%20_proteins_%7C_Cilia_%20_and_%20_flagella_%20_associated|CCDS5726_%2C__%20_CCDS47678_%2C__%20_CCDS75649|OTTHUMG00000157224|222235|609080|NM_001111038|Q8NEE6|ENSG00000161040|uc003vaq.3|FXL13_HUMAN||C9J565_%7C_C9J566_%7C_Q6UVW7_%7C_Q6UVW8_%7C_Q75MN5_%7C_Q86UJ5_%7C_Q8N7Y4_%7C_Q8TCL2_%7C_Q8WUF9_%7C_Q8WUG0|Q8NEE6|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 112424910 variant.97734 G A . PASS FUNCOTATION=[TMEM168|hg19|chr7|112424910|112424910|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr7:112424910G>A|ENST00000312814.6|-|2|||||0.3167082294264339|TTTCCCTCACGTTACAAAAAT|TMEM168_ENST00000454074.1_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471070|NM_022484.5|NP_071929.3|HGNC:25826|transmembrane_%20_protein_%20_168|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||DKFZp564C012_%2C_FLJ13576||7q31.1|2016-10-05|||||64418|ENSG00000146802|12477932|NM_022484|||CCDS5757|OTTHUMG00000155188|64418||NM_001287497|Q9H0V1|ENSG00000146802|uc003vgn.5|TM168_HUMAN||A4D0T9_%7C_B4DDS0_%7C_Q8NEK4_%7C_Q9H8J2|Q9H0V1||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_transport_%20_vesicle_%20_(GO:0030133)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 122338970 exm653867 C T . PASS FUNCOTATION=[RNF133|hg19|chr7|122338970|122338970|START_CODON_SNP||SNP|C|C|T|g.chr7:122338970C>T|ENST00000340112.2|-|1|241|c.3G>A|c.(1-3)atG>atA|p.M1I|0.3865336658354115|TGAGTAGATGCATCTCTCTCT|CADPS2_ENST00000412584.2_INTRON/CADPS2_ENST00000449022.2_INTRON/CADPS2_ENST00000334010.7_INTRON/CADPS2_ENST00000313070.7_INTRON|Colon(198_%3B_1778_%20_2057_%20_7449_%20_19869_%20_45985)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471070|NM_139175.1|NP_631914.1|HGNC:21154|ring_%20_finger_%20_protein_%20_133|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||7q31.32|2016-10-05|||AF447589||168433|ENSG00000188050||NM_139175|58|Ring_%20_finger_%20_proteins|CCDS5784|OTTHUMG00000157092|168433||NM_139175|Q8WVZ7|ENSG00000188050|uc003vkj.2|RN133_HUMAN||A4D0W2_%7C_Q8N7G7|Q8WVZ7|protein_%20_autoubiquitination_%20_(GO:0051865)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|ligase_%20_activity_%20_(GO:0016874)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 123197849 exm654183 T G . PASS FUNCOTATION=[NDUFA5|hg19|chr7|123197849|123197849|START_CODON_SNP||SNP|T|T|G|g.chr7:123197849T>G|ENST00000355749.2|-|1|461|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.5635910224438903|ACACCCGCCATGACAGCGCCA|NDUFA5_ENST00000471770.1_FIVE_PRIME_FLANK/NDUFA5_ENST00000467117.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U64028|NM_005000.2|NP_004991.1|HGNC:7688|NADH:ubiquinone_%20_oxidoreductase_%20_subunit_%20_A5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_1_%20_alpha_%20_subcomplex_%2C__%20_5_%20_(13kD_%2C__%20_B13)"_%2C__%20_"NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_1_%20_alpha_%20_subcomplex_%2C__%20_5_%2C__%20_13kDa"_%2C__%20_"NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_1_%20_alpha_%20_subcomplex_%2C__%20_5"|B13_%2C__%20_NUFM_%2C__%20_CI-13KD-B_%2C__%20_UQOR13_%2C__%20_CI-13kB|"complex_%20_I_%20_13kDa_%20_subunit_%20_B"_%2C__%20_"ubiquinone_%20_reductase"_%2C__%20_"type_%20_I_%20_dehydrogenase"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_13_%20_kDa-B_%20_subunit"|7q31.32|2016-10-05||2015-11-20|||4698|ENSG00000128609|9763677_%2C__%20_9021153|NM_005000|1150|NADH:ubiquinone_%20_oxidoreductase_%20_supernumerary_%20_subunits|CCDS5788_%2C__%20_CCDS64760_%2C__%20_CCDS75655_%2C__%20_CCDS75656|OTTHUMG00000157348|4698|601677|NM_001282419|Q16718|ENSG00000128609|uc033afk.2|NDUA5_HUMAN||B2RD98_%7C_Q5H9R2_%7C_Q6IRX7|Q16718|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 138711291 exm661303 T A . PASS FUNCOTATION=[ZC3HAV1L|hg19|chr7|138711291|138711291|NONSTOP||SNP|T|T|A|g.chr7:138711291T>A|ENST00000275766.1|-|5|914|c.902A>T|c.(901-903)tAa>tTa|p.*301L|0.456359102244389|CCATCTTCTTTACTTCTCGCA||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC020784|NM_080660.3|NP_542391.2|HGNC:22423|zinc_%20_finger_%20_CCCH-type_%20_containing_%2C__%20_antiviral_%20_1_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C7orf39|"chromosome_%20_7_%20_open_%20_reading_%20_frame_%20_39"|MGC14289||7q34|2017-03-10||2016-02-12|BC008842||92092|ENSG00000146858||NM_080660|||CCDS5850|OTTHUMG00000157229|92092||NM_080660|Q96H79|ENSG00000146858|uc003vum.1|ZCCHL_HUMAN||Q8WUD9|Q96H79|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 143748430 exm666951 A G . PASS FUNCOTATION=[OR2A5|hg19|chr7|143748430|143748430|NONSTOP||SNP|A|A|G|g.chr7:143748430A>G|ENST00000408906.2|+|1|970|c.936A>G|c.(934-936)tgA>tgG|p.*312W|0.48877805486284287|GATCAAAGTGAGGGATGCCAG||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||U86281|NM_012365.1|NP_036497.1|HGNC:8232|olfactory_%20_receptor_%20_family_%20_2_%20_subfamily_%20_A_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|OR2A8_%2C__%20_OR2A26|"olfactory_%20_receptor_%2C__%20_family_%20_2_%2C__%20_subfamily_%20_A_%2C__%20_member_%20_5"|OR7-138_%2C__%20_OR7-141||7q35|2015-12-09||2015-12-09|U86278||393046|ENSG00000221836|9500546||149|Olfactory_%20_receptors_%2C__%20_family_%20_2|CCDS43668|OTTHUMG00000158006|393046||NM_012365|Q96R48|ENSG00000221836|uc011ktw.3|OR2A5_HUMAN||B9EGX2_%7C_O43885_%7C_O43888|Q96R48||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 143771791 indel.98888 T TTAAC . PASS FUNCOTATION=[OR2A25|hg19|chr7|143771791|143771792|FRAME_SHIFT_INS||INS|-|-|TAAC|g.chr7:143771791_143771792insTAAC|ENST00000408898.2|+|1|517|c.479_480insTAAC|c.(478-480)gtgfs|p.L161fs|0.4525|TCCATCTAGTGTTACTGCTA||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH236959|NM_001004488.1|NP_001004488.1|HGNC:19562|olfactory_%20_receptor_%20_family_%20_2_%20_subfamily_%20_A_%20_member_%20_25|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|OR2A25P_%2C__%20_OR2A27|"olfactory_%20_receptor_%2C__%20_family_%20_2_%2C__%20_subfamily_%20_A_%2C__%20_member_%20_25"|||7q35|2015-12-09|2004-03-10|2015-12-09|||392138|ENSG00000221933|||149|Olfactory_%20_receptors_%2C__%20_family_%20_2|CCDS43669|OTTHUMG00000158013|392138||NM_001004488|A4D2G3|ENSG00000221933|uc011ktx.3|O2A25_HUMAN||B2RNC9|A4D2G3||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 150434689 exm671051 C T . PASS FUNCOTATION=[GIMAP5|hg19|chr7|150434689|150434689|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr7:150434689C>T|ENST00000358647.3|+|1|||||0.5361596009975063|CGCACACAGACGCAGAGCAGG|GIMAP5_ENST00000479556.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR457280|NM_018384.4|NP_060854.2|HGNC:18005|GTPase_%2C__%20_IMAP_%20_family_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|IAN4L1|"immune_%20_associated_%20_nucleotide_%20_4_%20_like_%20_1_%20_(mouse)"|HIMAP3_%2C__%20_IAN5|"immune-associated_%20_nucleotide-binding_%20_protein_%20_5"|7q36.1|2015-09-10|2004-10-30|2004-10-29|AK002158||55340|ENSG00000196329||NM_018384|580|GTPases_%2C__%20_IMAP|CCDS5907|OTTHUMG00000157542|55340|608086|NM_018384|Q96F15|ENSG00000196329|uc064jdz.2|GIMA5_HUMAN||D3DWZ5_%7C_Q6IA75_%7C_Q96NE4_%7C_Q9NUK9|Q96F15|myeloid_%20_dendritic_%20_cell_%20_differentiation_%20_(GO:0043011)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_interferon-gamma_%20_production_%20_(GO:0032689)_%7C_negative_%20_regulation_%20_of_%20_lipid_%20_catabolic_%20_process_%20_(GO:0050995)_%7C_negative_%20_regulation_%20_of_%20_nitric_%20_oxide_%20_biosynthetic_%20_process_%20_(GO:0045019)_%7C_negative_%20_regulation_%20_of_%20_T_%20_cell_%20_activation_%20_(GO:0050868)_%7C_positive_%20_regulation_%20_of_%20_calcium_%20_ion_%20_transport_%20_into_%20_cytosol_%20_(GO:0010524)_%7C_positive_%20_regulation_%20_of_%20_CD4-positive_%2C__%20_CD25-positive_%2C__%20_alpha-beta_%20_regulatory_%20_T_%20_cell_%20_differentiation_%20_(GO:0032831)_%7C_positive_%20_regulation_%20_of_%20_gamma-delta_%20_T_%20_cell_%20_differentiation_%20_(GO:0045588)_%7C_positive_%20_regulation_%20_of_%20_humoral_%20_immune_%20_response_%20_mediated_%20_by_%20_circulating_%20_immunoglobulin_%20_(GO:0002925)_%7C_positive_%20_regulation_%20_of_%20_membrane_%20_potential_%20_(GO:0045838)_%7C_positive_%20_regulation_%20_of_%20_natural_%20_killer_%20_cell_%20_cytokine_%20_production_%20_(GO:0002729)_%7C_positive_%20_regulation_%20_of_%20_natural_%20_killer_%20_cell_%20_mediated_%20_cytotoxicity_%20_(GO:0045954)_%7C_regulation_%20_of_%20_mitochondrial_%20_membrane_%20_permeability_%20_(GO:0046902)_%7C_T_%20_cell_%20_differentiation_%20_(GO:0030217)_%7C_T_%20_cell_%20_homeostasis_%20_(GO:0043029)_%7C_temperature_%20_homeostasis_%20_(GO:0001659)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosome_%20_(GO:0005764)_%7C_mitochondrial_%20_outer_%20_membrane_%20_(GO:0005741)|GTP_%20_binding_%20_(GO:0005525)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 154863078 exm2144851 G A . PASS FUNCOTATION=[HTR5A-AS1|hg19|chr7|154863078|154863078|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr7:154863078G>A|ENST00000395731.2|-|1|||||0.6384039900249376|CCGCAAGTGCGTCTCCAACGT|HTR5A_ENST00000287907.2_MISSENSE_p.V157I/HTR5A-AS1_ENST00000543018.1_DE_NOVO_START_IN_FRAME/HTR5A-AS1_ENST00000493904.1_INTRON|||||||||||||||||||||||||||||||||AC093726|||HGNC:48956|HTR5A_%20_antisense_%20_RNA_%20_1|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|HTR5AOS|"HTR5A_%20_opposite_%20_strand"|||7q36.2|2014-10-03|2014-10-03|2014-10-03|BC031272_%2C__%20_BC045795||100128264|ENSG00000220575||NR_038945||||OTTHUMG00000151326|100128264||NR_038945||ENSG00000220575||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 155755336 rs7807731 C T . PASS FUNCOTATION=[AC021218.2|hg19|chr7|155755336|155755336|DE_NOVO_START_IN_FRAME||SNP|C|C|T|g.chr7:155755336C>T|ENST00000377722.2|+|1|||||0.5037406483790524|TTTAGGAGCACGGGTACTACT||||||||||||||||||||||||||||||||||AC021218||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +8 6614907 exm679475 T C . PASS FUNCOTATION=[AGPAT5|hg19|chr8|6614907|6614907|NONSTOP||SNP|T|T|C|g.chr8:6614907T>C|ENST00000285518.6|+|8|1405|c.1093T>C|c.(1093-1095)Tag>Cag|p.*365Q|0.3940149625935162|TATTAAAGCATAGACAAGTAG||||||||||||||||||||||||AGPAT5{ENST00000285518}:r.1_898_MCPH1{ENST00000344683}:r.2529_3158(2)||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC080537|NM_018361.3|NP_060831.2|HGNC:20886|1-acylglycerol-3-phosphate_%20_O-acyltransferase_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"1-acylglycerol-3-phosphate_%20_O-acyltransferase_%20_5_%20_(lysophosphatidic_%20_acid_%20_acyltransferase_%2C__%20_epsilon)"|FLJ11210_%2C__%20_LPAAT-e_%2C__%20_LPAAT-epsilon|"lysophosphatidic_%20_acid_%20_acyltransferase_%2C__%20_epsilon"|8p23.1|2013-02-05||2013-02-05|AF375789|2.3.1.51|55326|ENSG00000155189||NM_018361|46|1-acylglycerol-3-phosphate_%20_O-acyltransferases|CCDS34796|OTTHUMG00000163656|55326|614796|NM_018361|Q9NUQ2|ENSG00000155189|uc003wqo.4|PLCE_HUMAN||Q8IZ47_%7C_Q9BQG4|Q9NUQ2|CDP-diacylglycerol_%20_biosynthetic_%20_process_%20_(GO:0016024)_%7C_cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_glycerophospholipid_%20_biosynthetic_%20_process_%20_(GO:0046474)_%7C_hematopoietic_%20_progenitor_%20_cell_%20_differentiation_%20_(GO:0002244)_%7C_phosphatidic_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0006654)_%7C_phospholipid_%20_biosynthetic_%20_process_%20_(GO:0008654)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_triglyceride_%20_biosynthetic_%20_process_%20_(GO:0019432)|endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_outer_%20_membrane_%20_(GO:0005741)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|1-acylglycerol-3-phosphate_%20_O-acyltransferase_%20_activity_%20_(GO:0003841)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +8 10464405 exm2160034 C G . PASS FUNCOTATION=[RP1L1|hg19|chr8|10464405|10464405|NONSTOP||SNP|C|C|G|g.chr8:10464405C>G|ENST00000382483.3|-|4|7427|c.7203G>C|c.(7201-7203)taG>taC|p.*2401Y|0.516209476309227|TTGATCTTGTCTAGAAATCTA||||||||||||||||||||||||||246|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(104)_%7C_large_intestine(36)_%7C_oesophagus(6)_%7C_pancreas(22)|||||||AC105001|NM_178857.5|NP_849188.4|HGNC:15946|RP1_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"retinitis_%20_pigmentosa_%20_1-like_%20_1"_%2C__%20_"retinitis_%20_pigmentosa_%20_1_%20_like_%20_1"|DCDC4B|"doublecortin_%20_domain_%20_containing_%20_4B"|8p23.1|2016-12-12||2016-12-12|AY168346||94137|ENSG00000183638|12634863||1369|Doublecortin_%20_superfamily|CCDS43708|OTTHUMG00000163806|94137|608581|NM_178857|Q8IWN7|ENSG00000183638|uc003wtc.4|RP1L1_HUMAN||Q86SQ1_%7C_Q8IWN8_%7C_Q8IWN9_%7C_Q8IWP0_%7C_Q8IWP1_%7C_Q8IWP2|Q8IWN7|cell_%20_projection_%20_organization_%20_(GO:0030030)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_photoreceptor_%20_cell_%20_development_%20_(GO:0042461)_%7C_photoreceptor_%20_cell_%20_maintenance_%20_(GO:0045494)_%7C_visual_%20_perception_%20_(GO:0007601)|axoneme_%20_(GO:0005930)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_microtubule_%20_(GO:0005874)_%7C_photoreceptor_%20_connecting_%20_cilium_%20_(GO:0032391)_%7C_photoreceptor_%20_outer_%20_segment_%20_(GO:0001750)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +8 18076998 variant.99838 G T . PASS FUNCOTATION=[NAT1|hg19|chr8|18076998|18076998|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr8:18076998G>T|ENST00000517492.1|+|2|||||0.3690773067331671|TACTAAGAAAGGTATTAAGGG|NAT1_ENST00000518029.1_DE_NOVO_START_OUT_FRAME/NAT1_ENST00000535084.1_DE_NOVO_START_OUT_FRAME/NAT1_ENST00000541942.1_DE_NOVO_START_OUT_FRAME/NAT1_ENST00000307719.4_DE_NOVO_START_OUT_FRAME/NAT1_ENST00000539092.1_DE_NOVO_START_OUT_FRAME/NAT1_ENST00000545197.1_SPLICE_SITE_p.K60N/NAT1_ENST00000520546.1_FIVE_PRIME_FLANK/NAT1_ENST00000517441.1_SPLICE_SITE|||||||||||||||||||||||||104|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_thymus(14)|||||||X17059|||HGNC:7645|N-acetyltransferase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AAC1|"N-acetyltransferase_%20_1_%20_(arylamine_%20_N-acetyltransferase)"||"arylamine_%20_N-acetyltransferase_%20_1"|8p22|2016-06-21||2016-06-21|BC047666|2.3.1.5|9|ENSG00000171428|7773298|NM_000662|1133|Arylamine_%20_N-acetyltransferases|CCDS6007_%2C__%20_CCDS55205|OTTHUMG00000097001|9|108345|NM_000662|P18440|ENSG00000171428|uc003wyq.4|S38A6_HUMAN||C9JWA6_%7C_Q86SY5|Q8IZM9|amino_%20_acid_%20_transport_%20_(GO:0006865)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +8 18258384 exm685706 T G . PASS FUNCOTATION=[NAT2|hg19|chr8|18258384|18258384|NONSTOP||SNP|T|T|G|g.chr8:18258384T>G|ENST00000286479.3|+|2|978|c.871T>G|c.(871-873)Tag>Gag|p.*291E|0.3491271820448878|CCTTACTATTTAGAATAAGGA|NAT2_ENST00000520116.1_NONSTOP_p.*161E|||||||||||||||||||||||||105|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_thymus(14)||||Naso-/Oropharyngeal/Laryngeal_%20_Cancer_%2C__%20_Familial_%20_Clustering_%20_of|incl.:_%20_Familial_%20_Head_%20_and_%20_Neck_%20_Cancer|Familial_%20_Cancer_%20_Database|X14672|NM_000015.2|NP_000006.2|HGNC:7646|N-acetyltransferase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AAC2|"N-acetyltransferase_%20_2_%20_(arylamine_%20_N-acetyltransferase)"||"arylamine_%20_N-acetyltransferase_%20_2"|8p22|2016-06-21||2016-06-21|D90042|2.3.1.5|10|ENSG00000156006|7773298|NM_000015|1133|Arylamine_%20_N-acetyltransferases|CCDS6008|OTTHUMG00000130826|10|612182|NM_000015|P11245|ENSG00000156006|uc003wyw.2|ARY2_HUMAN|Acetaminophen(DB00316)_%7C_Clonazepam(DB01068)_%7C_Dapsone(DB00250)_%7C_Ezogabine(DB04953)_%7C_Isoniazid(DB00951)_%7C_Sulfamethoxazole(DB01015)|O43637_%7C_O60654_%7C_O60655_%7C_Q13146_%7C_Q16697_%7C_Q2MLE4_%7C_Q2MLF5_%7C_Q2MLG8_%7C_Q2MLJ6_%7C_Q2MLK4_%7C_Q2MLK6_%7C_Q2MLN7_%7C_Q6LET4_%7C_Q86XS0_%7C_Q86XS1_%7C_Q96KY8_%7C_Q96T64_%7C_Q96T65_%7C_Q9H220|P11245|small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805)|cytosol_%20_(GO:0005829)|arylamine_%20_N-acetyltransferase_%20_activity_%20_(GO:0004060)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +8 22995385 exm689245 A G . PASS FUNCOTATION=[TNFRSF10D|hg19|chr8|22995385|22995385|NONSTOP||SNP|A|A|G|g.chr8:22995385A>G|ENST00000312584.3|-|9|1254|c.1159T>C|c.(1159-1161)Tga>Cga|p.*387R|0.47381546134663344|AGATTCTTTCACAGGCAGGAC||||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC052270|NM_003840.4|NP_003831.2|HGNC:11907|TNF_%20_receptor_%20_superfamily_%20_member_%20_10d|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_10d_%2C__%20_decoy_%20_with_%20_truncated_%20_death_%20_domain"|DcR2_%2C__%20_TRUNDD_%2C__%20_TRAILR4_%2C__%20_CD264||8p21.3|2016-10-05||2016-06-28|AF029761||8793|ENSG00000173530|9382840_%2C__%20_9537512||471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS6038|OTTHUMG00000097845|8793|603614|NM_003840|Q9UBN6|ENSG00000173530|uc003xcz.4|TR10D_HUMAN||B2R8W0_%7C_Q9Y6Q4|Q9UBN6|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|transmembrane_%20_signaling_%20_receptor_%20_activity_%20_(GO:0004888)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +8 23049208 exm689342 C A . PASS FUNCOTATION=[TNFRSF10A|hg19|chr8|23049208|23049208|NONSTOP||SNP|C|C|A|g.chr8:23049208C>A|ENST00000221132.3|-|10|1471|c.1406G>T|c.(1405-1407)tGa>tTa|p.*469L|0.4688279301745636|AAGAGTCTTTCACTCCAAGGA||||||||||||||||||||||||||615|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||U90875|NM_003844.3|NP_003835.3|HGNC:11904|TNF_%20_receptor_%20_superfamily_%20_member_%20_10a|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_10a"|DR4_%2C__%20_Apo2_%2C__%20_TRAILR-1_%2C__%20_CD261||8p21.3|2016-10-05||2016-06-28|U90875||8797|ENSG00000104689|9311998_%2C__%20_9082980|NM_003844|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS6039|OTTHUMG00000097843|8797|603611|NM_003844|O00220|ENSG00000104689|uc003xda.4|TR10A_HUMAN||A8K5I4_%7C_Q53Y72_%7C_Q96E62|O00220|activation_%20_of_%20_NF-kappaB-inducing_%20_kinase_%20_activity_%20_(GO:0007250)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_mechanical_%20_stimulus_%20_(GO:0071260)_%7C_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097191)_%7C_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_via_%20_death_%20_domain_%20_receptors_%20_(GO:0008625)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_TRAIL-activated_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:0036462)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|death_%20_receptor_%20_activity_%20_(GO:0005035)_%7C_protease_%20_binding_%20_(GO:0002020)_%7C_receptor_%20_activity_%20_(GO:0004872)_%7C_TRAIL_%20_binding_%20_(GO:0045569)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +8 24211915 exm690079 T G . PASS FUNCOTATION=[ADAM28|hg19|chr8|24211915|24211915|NONSTOP||SNP|T|T|G|g.chr8:24211915T>G|ENST00000265769.4|+|23|2436|c.2326T>G|c.(2326-2328)Tga>Gga|p.*776G|0.32917705735660846|TCCAAAAGCATGAAGCAACAG|ADAM28_ENST00000397649.3_THREE_PRIME_UTR/RP11-624C23.1_ENST00000518988.1_RNA/RP11-624C23.1_ENST00000519689.1_RNA/RP11-624C23.1_ENST00000523700.1_RNA/RP11-624C23.1_ENST00000523578.1_RNA|NSCLC(193_%3B_488_%20_2149_%20_22258_%20_34798_%20_40734)||||||||||||||||||||||||210|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_skin(27)|||||||CH471080|NM_014265.4|NP_055080.2|HGNC:206|ADAM_%20_metallopeptidase_%20_domain_%20_28|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"a_%20_disintegrin_%20_and_%20_metalloproteinase_%20_domain_%20_28"|eMDCII_%2C__%20_MDC-Lm_%2C__%20_MDC-Ls_%2C__%20_ADAM23||8p21.2|2014-11-19||2005-08-18|AJ242015||10863|ENSG00000042980||NM_021778|47|ADAM_%20_metallopeptidase_%20_domain_%20_containing|CCDS34865_%2C__%20_CCDS47830|OTTHUMG00000163780|10863|606188|NM_001304351|Q9UKQ2|ENSG00000042980|uc003xdy.4|ADA28_HUMAN||B2RMV5_%7C_Q9Y339_%7C_Q9Y3S0|Q9UKQ2|spermatogenesis_%20_(GO:0007283)|extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_metallopeptidase_%20_activity_%20_(GO:0008237)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +8 37635620 indel.100492 TG T . PASS FUNCOTATION=[PROSC|hg19|chr8|37635621|37635621|NONSTOP||DEL|G|G|-|g.chr8:37635621delG|ENST00000328195.3|+|8|893|c.827delG|c.(826-828)tgafs|p.A277fs|0.47880299251870323|CAGGAGCACTGAGCCAGGGAA||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533532|NM_007198.3|NP_009129.1||||||||||||||||||||||||||||||PROSC_HUMAN|L-Proline(DB00172)|Q6FI94|O94903|alpha-amino_%20_acid_%20_metabolic_%20_process_%20_(GO:1901605)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_intracellular_%20_(GO:0005622)_%7C_mitochondrion_%20_(GO:0005739)|pyridoxal_%20_phosphate_%20_binding_%20_(GO:0030170)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +8 39840213 indel.100718 A AT . PASS FUNCOTATION=[IDO2|hg19|chr8|39840213|39840214|FRAME_SHIFT_INS||INS|-|-|T|g.chr8:39840213_39840214insT|ENST00000389060.4|+|4|358|c.358_359insT|c.(358-360)aggfs|p.R120fs|0.445|GAAGTCTCCAGGAACTTGGG|IDO2_ENST00000502986.2_FRAME_SHIFT_INS_p.R133fs/RP11-44K6.3_ENST00000517623.1_RNA/IDO2_ENST00000343295.4_INTRON|||||||||||||||||||||||||127|breast(1)_%7C_central_nervous_system(22)_%7C_haematopoietic_and_lymphoid_tissue(104)|||||||EF052681|||HGNC:27269|indoleamine_%20_2_%2C_3-dioxygenase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|INDOL1|"indoleamine-pyrrole_%20_2_%2C_3_%20_dioxygenase-like_%20_1"|||8p11.21|2014-11-19|2009-01-07|2009-01-07|AK128691||169355|ENSG00000188676||NM_194294|||CCDS6114|OTTHUMG00000141271|169355|612129|NM_194294|Q6ZQW0|ENSG00000188676|uc064mgi.1|I23O2_HUMAN||A4UD41|Q6ZQW0|cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_tryptophan_%20_catabolic_%20_process_%20_(GO:0006569)_%7C_tryptophan_%20_catabolic_%20_process_%20_to_%20_kynurenine_%20_(GO:0019441)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)|heme_%20_binding_%20_(GO:0020037)_%7C_indoleamine_%20_2_%2C_3-dioxygenase_%20_activity_%20_(GO:0033754)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_tryptophan_%20_2_%2C_3-dioxygenase_%20_activity_%20_(GO:0004833)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +8 63978501 indel.101068 T TAA . PASS FUNCOTATION=[TTPA|hg19|chr8|63978501|63978502|FRAME_SHIFT_INS||INS|-|-|AA|g.chr8:63978501_63978502insAA|ENST00000260116.4|-|3|546|c.513_514insTT|c.(514-516)actfs|p.T172fs|0.3325|CGGATGGAGTGATTTGAAAA|TTPA_ENST00000521138.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U21938|NM_000370.3|NP_000361.1|HGNC:12404|alpha_%20_tocopherol_%20_transfer_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AVED|"ataxia_%20_(Friedreich-like)_%20_with_%20_vitamin_%20_E_%20_deficiency"_%2C__%20_"tocopherol_%20_(alpha)_%20_transfer_%20_protein"|||8q12.3|2016-11-01||2016-05-23|BC058000||7274|ENSG00000137561|7719340_%2C__%20_7887897|NM_000370|||CCDS6178|OTTHUMG00000164367|7274|600415|NM_000370|P49638|ENSG00000137561|uc003xux.3|TTPA_HUMAN|Vitamin_%20_E(DB00163)|Q71V64|P49638|embryonic_%20_placenta_%20_development_%20_(GO:0001892)_%7C_intermembrane_%20_transport_%20_(GO:0046909)_%7C_intracellular_%20_pH_%20_reduction_%20_(GO:0051452)_%7C_lipid_%20_metabolic_%20_process_%20_(GO:0006629)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_death_%20_(GO:0060548)_%7C_negative_%20_regulation_%20_of_%20_establishment_%20_of_%20_blood-brain_%20_barrier_%20_(GO:0090212)_%7C_response_%20_to_%20_nutrient_%20_(GO:0007584)_%7C_response_%20_to_%20_pH_%20_(GO:0009268)_%7C_response_%20_to_%20_toxic_%20_substance_%20_(GO:0009636)_%7C_transport_%20_(GO:0006810)_%7C_vitamin_%20_E_%20_metabolic_%20_process_%20_(GO:0042360)_%7C_vitamin_%20_transport_%20_(GO:0051180)|cytosol_%20_(GO:0005829)_%7C_late_%20_endosome_%20_(GO:0005770)|phosphatidylinositol-3_%2C_4-bisphosphate_%20_binding_%20_(GO:0043325)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_binding_%20_(GO:0005546)_%7C_transporter_%20_activity_%20_(GO:0005215)_%7C_vitamin_%20_E_%20_binding_%20_(GO:0008431)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +8 67900620 exm704244 A G . PASS FUNCOTATION=[PPP1R42|hg19|chr8|67900620|67900620|NONSTOP||SNP|A|A|G|g.chr8:67900620A>G|ENST00000324682.5|-|6|830|c.685T>C|c.(685-687)Taa>Caa|p.*229Q|0.30423940149625933|AAATTATATTAATATAAATAT|PPP1R42_ENST00000522909.1_INTRON|||||||||||||||||||||||||||||||||BC055413|NM_001013626.2|NP_001013648.1|HGNC:33732|protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunit_%20_42|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|LRRC67|"leucine_%20_rich_%20_repeat_%20_containing_%20_67"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_42"|dtr_%2C__%20_TLLR|"testis_%20_leucine-rich_%20_repeat"|8q13.1|2016-10-05|2011-10-11|2015-11-18|BC055413||286187|ENSG00000178125||NM_001013626|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS34902|OTTHUMG00000164745|286187|617720|NM_001013626|Q7Z4L9|ENSG00000178125|uc003xxc.4|PPR42_HUMAN|||Q7Z4L9|regulation_%20_of_%20_phosphatase_%20_activity_%20_(GO:0010921)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_manchette_%20_(GO:0002177)_%7C_microtubule_%20_cytoskeleton_%20_(GO:0015630)_%7C_microtubule_%20_organizing_%20_center_%20_(GO:0005815)|actin_%20_binding_%20_(GO:0003779)_%7C_dynein_%20_binding_%20_(GO:0045502)_%7C_tubulin_%20_binding_%20_(GO:0015631)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +8 82713734 exm2176858 A G . PASS FUNCOTATION=[SNX16|hg19|chr8|82713734|82713734|NONSTOP||SNP|A|A|G|g.chr8:82713734A>G|ENST00000345957.4|-|8|1312|c.1033T>C|c.(1033-1035)Taa>Caa|p.*345Q|0.29177057356608477|GTGATACATTAGTCTTCTTCA|SNX16_ENST00000353788.4_NONSTOP_p.*316Q/SNX16_ENST00000396330.2_NONSTOP_p.*345Q/RP13-923O23.6_ENST00000524337.1_RNA|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471068|NM_152836.2|NP_690049.1|HGNC:14980|sorting_%20_nexin_%20_16|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||8q21.13|2015-08-26|||AF305779||64089|ENSG00000104497|12461558_%2C__%20_12813048|NM_022133|754|Sorting_%20_nexins|CCDS6234_%2C__%20_CCDS6235|OTTHUMG00000164727|64089|614903|NM_022133|P57768|ENSG00000104497|uc011lft.3|SNX16_HUMAN||A8K4D8_%7C_Q658L0_%7C_Q8N4U3|P57768|early_%20_endosome_%20_to_%20_late_%20_endosome_%20_transport_%20_(GO:0045022)_%7C_endosome_%20_to_%20_lysosome_%20_transport_%20_(GO:0008333)_%7C_protein_%20_targeting_%20_to_%20_lysosome_%20_(GO:0006622)|early_%20_endosome_%20_(GO:0005769)_%7C_extrinsic_%20_component_%20_of_%20_endosome_%20_membrane_%20_(GO:0031313)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_lysosome_%20_(GO:0005764)|identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_phosphatidylinositol_%20_binding_%20_(GO:0035091)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +8 86057746 exm707986 A G . PASS FUNCOTATION=[LRRCC1|hg19|chr8|86057746|86057746|NONSTOP||SNP|A|A|G|g.chr8:86057746A>G|ENST00000360375.3|+|19|3248|c.3099A>G|c.(3097-3099)tgA>tgG|p.*1033W|0.2518703241895262|AAGATATGTGATGGTTCTGAG|LRRCC1_ENST00000414626.2_NONSTOP_p.*1013W|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471068|NM_033402.4|NP_208325.3|HGNC:29373|leucine_%20_rich_%20_repeat_%20_and_%20_coiled-coil_%20_centrosomal_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"leucine_%20_rich_%20_repeat_%20_and_%20_coiled-coil_%20_domain_%20_containing_%20_1"|KIAA1764_%2C__%20_CLERC_%2C__%20_VFL1|"centrosomal_%20_leucine-rich_%20_repeat_%20_and_%20_coiled-coil_%20_containing_%20_protein"_%2C__%20_"variable_%20_number_%20_of_%20_flagella_%20_1_%20_homolog_%20_(Chlamydomonas)"|8q21.2|2015-08-25||2012-04-10|BC030701||85444|ENSG00000133739|11214970_%2C__%20_18728398|NM_033402|||CCDS43750|OTTHUMG00000164784|85444||NM_033402|Q9C099|ENSG00000133739|uc003ycw.4|LRCC1_HUMAN||B4DYX6_%7C_B5RI11_%7C_Q8N768_%7C_Q96DK7_%7C_Q96N01|Q9C099|mitotic_%20_nuclear_%20_division_%20_(GO:0007067)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +8 104061183 indel.101975 G GTT . PASS FUNCOTATION=[ATP6V1C1|hg19|chr8|104061183|104061184|SPLICE_SITE|FRAME_SHIFT_INS|INS|-|-|TT|g.chr8:104061183_104061184insTT|ENST00000395862.3|+|4|445|c.286_287insTT|c.(286-288)gtgfs|p.D97fs|0.3175|GCTAATGGAGGTAAGCTAAT|ATP6V1C1_ENST00000518738.1_SPLICE_SITE_p.D97fs/ATP6V1C1_ENST00000518857.1_SPLICE_SITE_p.D22fs/ATP6V1C1_ENST00000521514.1_SPLICE_SITE_p.D22fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X69151|NM_001695.4|NP_001686.1|HGNC:856|ATPase_%20_H+_%20_transporting_%20_V1_%20_subunit_%20_C1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ATP6D_%2C__%20_ATP6C|"ATPase_%2C__%20_H+_%20_transporting_%2C__%20_lysosomal_%20_(vacuolar_%20_proton_%20_pump)_%20_42kD"_%2C__%20_"ATPase_%2C__%20_H+_%20_transporting_%2C__%20_lysosomal_%20_42kDa_%2C__%20_V1_%20_subunit_%20_C_%2C__%20_isoform_%20_1"_%2C__%20_"ATPase_%2C__%20_H+_%20_transporting_%2C__%20_lysosomal_%20_42kDa_%2C__%20_V1_%20_subunit_%20_C1"|VATC_%2C__%20_Vma5||8q22.3|2016-10-05|2002-05-10|2016-02-11|X69151|3.6.3.14|528|ENSG00000155097|8250920_%2C__%20_14580332|NM_001695|415|V-type_%20_ATPases|CCDS6296|OTTHUMG00000164761|528|603097|NM_001695|P21283|ENSG00000155097|uc003yla.4|VATC1_HUMAN|||P21283|ATP_%20_hydrolysis_%20_coupled_%20_proton_%20_transport_%20_(GO:0015991)_%7C_cellular_%20_iron_%20_ion_%20_homeostasis_%20_(GO:0006879)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_interaction_%20_with_%20_host_%20_(GO:0051701)_%7C_phagosome_%20_maturation_%20_(GO:0090382)_%7C_proton_%20_transport_%20_(GO:0015992)_%7C_transferrin_%20_transport_%20_(GO:0033572)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_part_%20_of_%20_cell_%20_(GO:0045177)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_proton-transporting_%20_two-sector_%20_ATPase_%20_complex_%20_(GO:0016469)_%7C_proton-transporting_%20_V-type_%20_ATPase_%2C__%20_V1_%20_domain_%20_(GO:0033180)|hydrogen-exporting_%20_ATPase_%20_activity_%2C__%20_phosphorylative_%20_mechanism_%20_(GO:0008553)_%7C_proton-transporting_%20_ATPase_%20_activity_%2C__%20_rotational_%20_mechanism_%20_(GO:0046961)_%7C_transporter_%20_activity_%20_(GO:0005215)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +8 104433259 indel.102006 A AT . PASS FUNCOTATION=[DCAF13|hg19|chr8|104433259|104433260|FRAME_SHIFT_INS||INS|-|-|T|g.chr8:104433259_104433260insT|ENST00000297579.5|+|3|1060|c.783_784insT|c.(784-786)ggcfs|p.G262fs|0.33|AGCACATGAAGGCTTTGTAC|DCAF13_ENST00000519682.1_FRAME_SHIFT_INS_p.G106fs/DCAF13_ENST00000521971.1_INTRON/DCAF13_ENST00000521999.1_INTRON|||||||||||||||||||||||||182|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(44)_%7C_large_intestine(35)_%7C_pancreas(22)_%7C_stomach(47)|||||||BC112042|NM_015420.6|NP_056235.4|HGNC:24535|DDB1_%20_and_%20_CUL4_%20_associated_%20_factor_%20_13|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|WDSOF1|"WD_%20_repeats_%20_and_%20_SOF1_%20_domain_%20_containing"|DKFZP564O0463_%2C__%20_Gm83_%2C__%20_HSPC064_%2C__%20_Sof1||8q22.3|2017-05-26|2009-07-17|2009-07-17|AK074725||25879|ENSG00000164934|11042152_%2C__%20_16949367|NM_015420|498_%7C_362|DDB1_%20_and_%20_CUL4_%20_associated_%20_factors_%7C_WD_%20_repeat_%20_domain_%20_containing|CCDS34934|OTTHUMG00000164888|25879|616196|NM_015420|Q9NV06|ENSG00000164934|uc064pja.1|DCA13_HUMAN||Q3MII9_%7C_Q8NCH8_%7C_Q8TC51_%7C_Q96JY7_%7C_Q9NZX3|Q9NV06|protein_%20_ubiquitination_%20_(GO:0016567)_%7C_rRNA_%20_processing_%20_(GO:0006364)|Cul4-RING_%20_E3_%20_ubiquitin_%20_ligase_%20_complex_%20_(GO:0080008)_%7C_nucleus_%20_(GO:0005634)_%7C_ribonucleoprotein_%20_complex_%20_(GO:0030529)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +8 124359584 exm718993 G A . PASS FUNCOTATION=[ATAD2|hg19|chr8|124359584|124359584|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr8:124359584G>A|ENST00000521903.1|-|17|||||0.40648379052369077|TGTGGGTAGCGTCGTCGTAAA|ATAD2_ENST00000287394.5_MISSENSE_p.R654C/MIR548AA1_ENST00000384971.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||170|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_oesophagus(6)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(72)||||||||||HGNC:30123|ATPase_%20_family_%2C__%20_AAA_%20_domain_%20_containing_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||PRO2000_%2C__%20_DKFZp667N1320_%2C__%20_MGC5254_%2C__%20_MGC29843_%2C__%20_CT137_%2C__%20_ANCCA|"AAA_%20_nuclear_%20_coregulator_%20_cancer-associated_%20_protein"|8q24.13|2017-11-27|2007-02-08||BC019909||29028|ENSG00000156802|26459632|NM_014109|413_%7C_1232|AAA_%20_ATPases_%7C_Bromodomain_%20_containing|CCDS6343|OTTHUMG00000165090|29028|611941|NM_014109|Q6PL18|ENSG00000156802|uc003yqh.5|ATAD2_HUMAN||Q14CR1_%7C_Q658P2_%7C_Q68CQ0_%7C_Q6PJV6_%7C_Q8N890_%7C_Q9UHS5|Q6PL18|ATP_%20_catabolic_%20_process_%20_(GO:0006200)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_ATPase_%20_activity_%20_(GO:0016887)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +8 140943503 rs2233230 C T . PASS FUNCOTATION=[C8orf17|hg19|chr8|140943503|140943503|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr8:140943503C>T|ENST00000507535.3|+|1|||||0.4937655860349127|CGAGCATACACGTAATCCTCA|TRAPPC9_ENST00000389328.4_INTRON/TRAPPC9_ENST00000438773.2_INTRON/TRAPPC9_ENST00000389327.3_INTRON|||||||||||||||||||||||||||||||||CH471060|||HGNC:17737|chromosome_%20_8_%20_open_%20_reading_%20_frame_%20_17|Approved|unknown|other|||MOST-1||8q24.3|2016-09-30|||AF220264||100507249|ENSG00000250733|17143515|||||OTTHUMG00000140391|100507249|616992||Q9NRJ1|ENSG00000250733|uc064qpr.1|MOST1_HUMAN|||Q9NRJ1||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_membrane_%20_(GO:0016020)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +8 143761931 exm-rs2294008 C T . PASS FUNCOTATION=[PSCA|hg19|chr8|143761931|143761931|DE_NOVO_START_IN_FRAME||SNP|C|C|T|g.chr8:143761931C>T|ENST00000301258.4|+|1|||||0.6483790523690773|CCAGTGACCACGAAGGCTGTG|PSCA_ENST00000513264.1_DE_NOVO_START_IN_FRAME/PSCA_ENST00000505305.1_INTRON|||||||||||||||||||||||||||||||||CH471162|NM_005672.4|NP_005663.2|HGNC:9500|prostate_%20_stem_%20_cell_%20_antigen|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||8q24.3|2016-10-25|||AF043498||8000|ENSG00000167653|9465086|NM_005672|1226|LY6/PLAUR_%20_domain_%20_containing|CCDS47925|OTTHUMG00000162077|8000|602470|NM_005672|O43653|ENSG00000167653|uc003ywu.4|PSCA_HUMAN||Q6UW92|O43653||anchored_%20_component_%20_of_%20_membrane_%20_(GO:0031225)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +8 144413416 rs2450772 G A . PASS FUNCOTATION=[TOP1MT|hg19|chr8|144413416|144413416|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr8:144413416G>A|ENST00000523676.1|-|3|||||0.6334164588528678|AACGCACTCCGTCGGGAAGGG|TOP1MT_ENST00000521193.1_DE_NOVO_START_OUT_FRAME/TOP1MT_ENST00000329245.4_SILENT_p.D72D/TOP1MT_ENST00000519148.1_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||112|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(21)|||||||BC071914|||HGNC:29787|DNA_%20_topoisomerase_%20_I_%20_mitochondrial|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"topoisomerase_%20_(DNA)_%20_I_%2C__%20_mitochondrial"|||8q24.3|2017-08-04||2017-08-04|AF349018||116447|ENSG00000184428|11526219|NM_052963|1050|Topoisomerases|CCDS6400_%2C__%20_CCDS59115|OTTHUMG00000164979|116447|606387|NM_001258446|Q969P6|ENSG00000184428|uc003yxz.6|TOP1M_HUMAN|Irinotecan(DB00762)_%7C_Topotecan(DB01030)|B7ZAR5_%7C_E7ES89_%7C_Q86ST4_%7C_Q86V82|Q969P6|DNA_%20_replication_%20_(GO:0006260)_%7C_DNA_%20_topological_%20_change_%20_(GO:0006265)|chromosome_%20_(GO:0005694)_%7C_mitochondrial_%20_nucleoid_%20_(GO:0042645)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_DNA_%20_topoisomerase_%20_type_%20_I_%20_activity_%20_(GO:0003917)_%7C_DNA_%20_topoisomerase_%20_type_%20_II_%20_(ATP-hydrolyzing)_%20_activity_%20_(GO:0003918)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +9 80855026 indel.104663 G GT . PASS FUNCOTATION=[CEP78|hg19|chr9|80855026|80855027|FRAME_SHIFT_INS||INS|-|-|T|g.chr9:80855026_80855027insT|ENST00000376597.4|+|2|485|c.341_342insT|c.(340-342)ggcfs|p.C115fs|0.3475|CTCTTAAAGGCTGTTTAAGT|CEP78_ENST00000424347.2_FRAME_SHIFT_INS_p.C115fs/CEP78_ENST00000415759.2_FRAME_SHIFT_INS_p.C115fs/CEP78_ENST00000277082.5_FRAME_SHIFT_INS_p.C115fs/CEP78_ENST00000376598.2_FRAME_SHIFT_INS_p.C115fs|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC128058|NM_001098802.1|NP_001092272.1|HGNC:25740|centrosomal_%20_protein_%20_78|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C9orf81|"chromosome_%20_9_%20_open_%20_reading_%20_frame_%20_81"_%2C__%20_"centrosomal_%20_protein_%20_78kDa"|FLJ12643||9q21.2|2016-03-30|2005-12-01|2016-03-30|BC058931||84131|ENSG00000148019|14654843|XM_095991|||CCDS47984_%2C__%20_CCDS47985_%2C__%20_CCDS83376_%2C__%20_CCDS83377_%2C__%20_CCDS83378|OTTHUMG00000020062|84131|617110|NM_001098802|Q5JTW2|ENSG00000148019|uc004aky.5|CEP78_HUMAN||A1A4S8_%7C_E9PHX5_%7C_Q5BJE3_%7C_Q5JTW0_%7C_Q5JTW1_%7C_Q9H9N3|Q5JTW2|G2/M_%20_transition_%20_of_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0000086)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)|centrosome_%20_(GO:0005813)_%7C_cytosol_%20_(GO:0005829)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +9 114355240 indel.105666 C CT . PASS FUNCOTATION=[PTGR1|hg19|chr9|114355240|114355241|FRAME_SHIFT_INS||INS|-|-|T|g.chr9:114355240_114355241insT|ENST00000407693.2|-|4|438|c.174_175insA|c.(175-177)gaafs|p.E59fs|0.3925|TATCACCTTCCTTCAATCTT|PTGR1_ENST00000309195.5_FRAME_SHIFT_INS_p.E59fs/PTGR1_ENST00000538962.1_FRAME_SHIFT_INS_p.E59fs/PTGR1_ENST00000238248.3_FIVE_PRIME_UTR|Ovarian(200_%3B_132_%20_2151_%20_7551_%20_19220_%20_46064)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||D49387|NM_001146108.1|NP_001139580.1|HGNC:18429|prostaglandin_%20_reductase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|LTB4DH|"leukotriene_%20_B4_%20_12-hydroxydehydrogenase"|ZADH3|"zinc_%20_binding_%20_alcohol_%20_dehydrogenase_%20_domain_%20_containing_%20_3"|9q31.3|2016-10-05|2008-06-02|2008-06-02|D49387|1.3.1.74_%2C__%20_1.3.1.48|22949|ENSG00000106853|8576264_%2C__%20_17449869||||CCDS6779_%2C__%20_CCDS55331|OTTHUMG00000020493|22949|601274|NM_001146108|Q14914|ENSG00000106853|uc004bfi.3|PTGR1_HUMAN||A8K0N2_%7C_B4DPK3_%7C_F5GY50_%7C_Q8IYQ0_%7C_Q9H1X6|Q14914|arachidonic_%20_acid_%20_metabolic_%20_process_%20_(GO:0019369)_%7C_cyclooxygenase_%20_pathway_%20_(GO:0019371)_%7C_leukotriene_%20_metabolic_%20_process_%20_(GO:0006691)_%7C_lipoxin_%20_metabolic_%20_process_%20_(GO:2001300)_%7C_response_%20_to_%20_toxic_%20_substance_%20_(GO:0009636)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|13-prostaglandin_%20_reductase_%20_activity_%20_(GO:0036132)_%7C_15-oxoprostaglandin_%20_13-oxidase_%20_activity_%20_(GO:0047522)_%7C_2-alkenal_%20_reductase_%20_[NAD(P)]_%20_activity_%20_(GO:0032440)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +9 125282025 indel.106072 G GTGTC . PASS FUNCOTATION=[OR1J4|hg19|chr9|125282025|125282026|FRAME_SHIFT_INS||INS|-|-|TGTC|g.chr9:125282025_125282026insTGTC|ENST00000340750.1|+|1|606|c.606_607insTGTC|c.(607-609)ggafs|p.G203fs|0.4875|TTTCACAGTGGGACAGGCAG||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X64979|NM_001004452.1|NP_001004452.1|HGNC:8211|olfactory_%20_receptor_%20_family_%20_1_%20_subfamily_%20_J_%20_member_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"olfactory_%20_receptor_%2C__%20_family_%20_1_%2C__%20_subfamily_%20_J_%2C__%20_member_%20_4"|HTPCRX01_%2C__%20_HSHTPCRX01||9q33.2|2015-12-09||2015-12-09|X64979||26219|ENSG00000239590|1370859||147|Olfactory_%20_receptors_%2C__%20_family_%20_1|CCDS35122|OTTHUMG00000020606|26219||NM_001004452|Q8NGS1|ENSG00000239590|uc011lyw.2|OR1J4_HUMAN||A3KFM0_%7C_Q6IEZ3_%7C_Q96R89|Q8NGS1||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +9 131221884 exm785426 C T . PASS FUNCOTATION=[ODF2|hg19|chr9|131221884|131221884|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr9:131221884C>T|ENST00000393527.3|+|3|||||0.4937655860349127|ACGAGTCTCACGCAGAAAAAG|ODF2_ENST00000448249.3_DE_NOVO_START_OUT_FRAME/ODF2_ENST00000434106.3_MISSENSE_p.T24M/ODF2_ENST00000604420.1_MISSENSE_p.T24M/ODF2_ENST00000372791.3_MISSENSE_p.T24M/ODF2_ENST00000372814.3_MISSENSE_p.T68M/ODF2_ENST00000546203.1_MISSENSE_p.T24M/ODF2_ENST00000393533.2_MISSENSE_p.T24M/ODF2_ENST00000351030.3_DE_NOVO_START_IN_FRAME/ODF2_ENST00000535026.1_DE_NOVO_START_OUT_FRAME/ODF2_ENST00000372807.5_FIVE_PRIME_FLANK/ODF2_ENST00000444119.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC012785|NM_002540.4|NP_002531.3|HGNC:8114|outer_%20_dense_%20_fiber_%20_of_%20_sperm_%20_tails_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"outer_%20_dense_%20_fibre_%20_of_%20_sperm_%20_tails_%20_2"|ODF84_%2C__%20_CT134|"cancer/testis_%20_antigen_%20_134"_%2C__%20_"cenexin"|9q34.11|2016-10-05||2002-10-21|AF012549||4957|ENSG00000136811|9045620_%2C__%20_10072582||||CCDS6902_%2C__%20_CCDS56585_%2C__%20_CCDS56586_%2C__%20_CCDS56587_%2C__%20_CCDS56588_%2C__%20_CCDS56589_%2C__%20_CCDS56590|OTTHUMG00000020748|4957|602015|NM_001242352|Q5BJF6|ENSG00000136811|uc064wes.1|ODFP2_HUMAN||B1AND3_%7C_B4DRK4_%7C_B4DX73_%7C_B4DZ02_%7C_E7EWL2_%7C_F5H6J4_%7C_O14721_%7C_O60631_%7C_Q1W2J6_%7C_Q6UN26_%7C_Q7Z5I6_%7C_Q96FN2|Q5BJF6|G2/M_%20_transition_%20_of_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0000086)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_regulation_%20_of_%20_cilium_%20_assembly_%20_(GO:1902017)_%7C_spermatid_%20_development_%20_(GO:0007286)|centriole_%20_(GO:0005814)_%7C_centrosome_%20_(GO:0005813)_%7C_ciliary_%20_basal_%20_body_%20_(GO:0036064)_%7C_cytosol_%20_(GO:0005829)_%7C_microtubule_%20_(GO:0005874)_%7C_nucleus_%20_(GO:0005634)_%7C_outer_%20_dense_%20_fiber_%20_(GO:0001520)_%7C_primary_%20_cilium_%20_(GO:0072372)|Rab_%20_GTPase_%20_binding_%20_(GO:0017137)_%7C_structural_%20_molecule_%20_activity_%20_(GO:0005198)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +9 133327612 exm788586 C T . PASS FUNCOTATION=[ASS1|hg19|chr9|133327612|133327612|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr9:133327612C>T|ENST00000372394.1|+|3|||||0.6234413965087282|TCCCGCCAGACGCTATGTCCA|ASS1_ENST00000352480.5_DE_NOVO_START_OUT_FRAME/ASS1_ENST00000372393.3_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X01630|||HGNC:758|argininosuccinate_%20_synthase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ASS|"argininosuccinate_%20_synthetase"|CTLN1||9q34.11|2016-10-05|2006-08-24|2010-04-20|X01630|6.3.4.5|445|ENSG00000130707|3513483_%2C__%20_852520|NM_000050|||CCDS6933|OTTHUMG00000020806|445|603470|NM_000050|P00966|ENSG00000130707|uc004bzn.4|ASSY_HUMAN|Adenosine_%20_triphosphate(DB00171)_%7C_L-Arginine(DB00125)_%7C_L-Aspartic_%20_Acid(DB00128)_%7C_L-Citrulline(DB00155)|Q6LDL2_%7C_Q86UZ0_%7C_Q96GT4|P00966|acute-phase_%20_response_%20_(GO:0006953)_%7C_aging_%20_(GO:0007568)_%7C_arginine_%20_biosynthetic_%20_process_%20_(GO:0006526)_%7C_argininosuccinate_%20_metabolic_%20_process_%20_(GO:0000053)_%7C_aspartate_%20_metabolic_%20_process_%20_(GO:0006531)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_cellular_%20_response_%20_to_%20_amine_%20_stimulus_%20_(GO:0071418)_%7C_cellular_%20_response_%20_to_%20_amino_%20_acid_%20_stimulus_%20_(GO:0071230)_%7C_cellular_%20_response_%20_to_%20_ammonium_%20_ion_%20_(GO:0071242)_%7C_cellular_%20_response_%20_to_%20_cAMP_%20_(GO:0071320)_%7C_cellular_%20_response_%20_to_%20_dexamethasone_%20_stimulus_%20_(GO:0071549)_%7C_cellular_%20_response_%20_to_%20_glucagon_%20_stimulus_%20_(GO:0071377)_%7C_cellular_%20_response_%20_to_%20_interferon-gamma_%20_(GO:0071346)_%7C_cellular_%20_response_%20_to_%20_laminar_%20_fluid_%20_shear_%20_stress_%20_(GO:0071499)_%7C_cellular_%20_response_%20_to_%20_lipopolysaccharide_%20_(GO:0071222)_%7C_cellular_%20_response_%20_to_%20_oleic_%20_acid_%20_(GO:0071400)_%7C_cellular_%20_response_%20_to_%20_tumor_%20_necrosis_%20_factor_%20_(GO:0071356)_%7C_citrulline_%20_metabolic_%20_process_%20_(GO:0000052)_%7C_diaphragm_%20_development_%20_(GO:0060539)_%7C_kidney_%20_development_%20_(GO:0001822)_%7C_liver_%20_development_%20_(GO:0001889)_%7C_midgut_%20_development_%20_(GO:0007494)_%7C_negative_%20_regulation_%20_of_%20_leukocyte_%20_cell-cell_%20_adhesion_%20_(GO:1903038)_%7C_positive_%20_regulation_%20_of_%20_nitric_%20_oxide_%20_biosynthetic_%20_process_%20_(GO:0045429)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_response_%20_to_%20_estradiol_%20_(GO:0032355)_%7C_response_%20_to_%20_growth_%20_hormone_%20_(GO:0060416)_%7C_response_%20_to_%20_mycotoxin_%20_(GO:0010046)_%7C_response_%20_to_%20_nutrient_%20_(GO:0007584)_%7C_response_%20_to_%20_zinc_%20_ion_%20_(GO:0010043)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_urea_%20_cycle_%20_(GO:0000050)|cell_%20_body_%20_fiber_%20_(GO:0070852)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_lysosome_%20_(GO:0005764)_%7C_mitochondrial_%20_outer_%20_membrane_%20_(GO:0005741)_%7C_nucleus_%20_(GO:0005634)_%7C_perikaryon_%20_(GO:0043204)|amino_%20_acid_%20_binding_%20_(GO:0016597)_%7C_argininosuccinate_%20_synthase_%20_activity_%20_(GO:0004055)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_toxic_%20_substance_%20_binding_%20_(GO:0015643)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +9 139371562 exm798457 G A . PASS FUNCOTATION=[SEC16A|hg19|chr9|139371562|139371562|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr9:139371562G>A|ENST00000371706.3|-|1|||||0.6084788029925187|CCCATGAGACGTTTCAGGATC|SEC16A_ENST00000313050.7_MISSENSE_p.T169M/SEC16A_ENST00000290037.6_FIVE_PRIME_FLANK/SEC16A_ENST00000431893.2_FIVE_PRIME_FLANK|||||||||||||||||||||||SEC16A{ENST00000313050}:r.1_118_NOTCH1{ENST00000277541}:r.5244_9371(2)_%7C_SEC16A{ENST00000313050}:r.1_118_NOTCH1{ENST00000277541}:r.5095_9371(2)||157|genital_tract(91)_%7C_testis(65)_%7C_upper_aerodigestive_tract(1)|||||||DQ903855|NM_001276418.1|NP_001263347.1|HGNC:29006|SEC16_%20_homolog_%20_A_%2C__%20_endoplasmic_%20_reticulum_%20_export_%20_factor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|KIAA0310|"KIAA0310"_%2C__%20_"SEC16_%20_homolog_%20_A_%20_(S._%20_cerevisiae)"|p250_%2C__%20_Sec16L||9q34.3|2015-07-23|2007-06-20|2015-07-23|AK074565||9919|ENSG00000148396|17192411_%2C__%20_21045114|NM_014866|||CCDS55351_%2C__%20_CCDS75936|OTTHUMG00000020932|9919|612854|NM_001276418|O15027|ENSG00000148396|uc064xcg.1|SC16A_HUMAN||A1YCA4_%7C_Q4G0D7_%7C_Q5SXP0_%7C_Q5SXP1_%7C_Q8N347_%7C_Q96HP1|O15027|COPII_%20_vesicle_%20_coating_%20_(GO:0048208)_%7C_endoplasmic_%20_reticulum_%20_organization_%20_(GO:0007029)_%7C_protein_%20_transport_%20_(GO:0015031)_%7C_substantia_%20_nigra_%20_development_%20_(GO:0021762)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_membrane_%20_(GO:0000139)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +X 148582542 exm1661263 A C . PASS FUNCOTATION=[IDS|hg19|chrX|148582542|148582542|DE_NOVO_START_OUT_FRAME||SNP|A|A|C|g.chrX:148582542A>C|ENST00000422081.2|-|4|||||0.3940149625935162|CTATACGGAGAATCATCGGTA|IDS_ENST00000340855.6_MISSENSE_p.S149A/IDS_ENST00000370441.4_MISSENSE_p.S149A/IDS_ENST00000541269.1_DE_NOVO_START_OUT_FRAME/IDS_ENST00000370443.4_MISSENSE_p.S149A/IDS_ENST00000490775.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471171|||HGNC:5389|iduronate_%20_2-sulfatase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SIDS|||"Hunter_%20_syndrome"|Xq28|2016-10-05||2008-08-01|M58342|3.1.6.13|3423|ENSG00000010404|||410|Sulfatases|CCDS14685_%2C__%20_CCDS14686|OTTHUMG00000022615|3423|300823|NM_000202|P22304|ENSG00000010404|uc011mxe.3|IDS_HUMAN||D3DWT4_%7C_Q14604_%7C_Q9BRM3|P22304|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_catabolic_%20_process_%20_(GO:0030207)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_glycosaminoglycan_%20_catabolic_%20_process_%20_(GO:0006027)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|lysosomal_%20_lumen_%20_(GO:0043202)|iduronate-2-sulfatase_%20_activity_%20_(GO:0004423)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +MT 72 2010-08-MT-841 T C . PASS FUNCOTATION=[MT-ND1|hg19|chrM|72|72|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:72T>C|ENST00000361390.2|+||||||0.4375|GTCTGGGGGGTATGCACGCGA|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +MT 125 200610-102 T C . PASS FUNCOTATION=[MT-ND1|hg19|chrM|125|125|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:125T>C|ENST00000361390.2|+||||||0.4523076923076923|TATGTCGCAGTATCTGTCTTT|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +MT 212 200610-104 T C . PASS FUNCOTATION=[MT-ND1|hg19|chrM|212|212|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:212T>C|ENST00000361390.2|+||||||0.4389027431421446|AGTGTGTTAATTAATTAATGC|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +MT 217 exm-rs41531144 T C . PASS FUNCOTATION=[MT-ND1|hg19|chrM|217|217|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:217T>C|ENST00000361390.2|+||||||0.44139650872817954|GTTAATTAATTAATGCTTGTA|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +MT 228 exm-rs41323649 G A . PASS FUNCOTATION=[MT-ND1|hg19|chrM|228|228|FIVE_PRIME_FLANK||SNP|G|G|A|g.chrM:228G>A|ENST00000361390.2|+||||||0.43640897755610975|AATGCTTGTAGGACATAATAA|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +MT 236 200610-105 T C . PASS FUNCOTATION=[MT-ND1|hg19|chrM|236|236|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:236T>C|ENST00000361390.2|+||||||0.4389027431421446|TAGGACATAATAATAACAATT|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +MT 246 200610-106 T C . PASS FUNCOTATION=[MT-ND1|hg19|chrM|246|246|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:246T>C|ENST00000361390.2|+||||||0.4339152119700748|TAATAACAATTGAATGTCTGC|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +MT 295 exm-rs41528348 C T . PASS FUNCOTATION=[MT-ND1|hg19|chrM|295|295|FIVE_PRIME_FLANK||SNP|C|C|T|g.chrM:295C>T|ENST00000361390.2|+||||||0.42144638403990026|CAAAAAATTTCCACCAAACCC|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +MT 489 exm-rs28625645 T C . PASS FUNCOTATION=[MT-ND1|hg19|chrM|489|489|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:489T>C|ENST00000361390.2|+||||||0.46633416458852867|ATCTCATCAATACAACCCCCG|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +MT 499 exm-rs3901846 G A . PASS FUNCOTATION=[MT-ND1|hg19|chrM|499|499|FIVE_PRIME_FLANK||SNP|G|G|A|g.chrM:499G>A|ENST00000361390.2|+||||||0.4688279301745636|TACAACCCCCGCCCATCCTAC|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +MT 1719 exm-rs3928305 G A . PASS FUNCOTATION=[MT-ND1|hg19|chrM|1719|1719|FIVE_PRIME_FLANK||SNP|G|G|A|g.chrM:1719G>A|ENST00000361390.2|+||||||0.4114713216957606|GACAACCTTAGCCAAACCATT|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-CO1_ENST00000361624.2_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_RNA/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-TW_ENST00000387382.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +MT 3316 exm-rs2853516 G A . PASS FUNCOTATION=[MT-ND1|hg19|chrM|3316|3316|MISSENSE||SNP|G|G|A|g.chrM:3316G>A|ENST00000361390.2|+|1|10|c.10G>A|c.(10-12)Gcc>Acc|p.A4T|0.4613466334164589|CATACCCATGGCCAACCTCCT|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-CO1_ENST00000361624.2_FIVE_PRIME_FLANK/MT-CO2_ENST00000361739.1_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-TW_ENST00000387382.1_FIVE_PRIME_FLANK/MT-TD_ENST00000387419.1_FIVE_PRIME_FLANK/MT-TK_ENST00000387421.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||V00662|||HGNC:7455|mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MTND1|"NADH_%20_dehydrogenase_%20_1"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_1"|ND1_%2C__%20_NAD1|"complex_%20_I_%20_ND1_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_1"|mitochondria|2015-11-20|2005-02-16|2015-11-20||1.6.5.3|4535|ENSG00000198888||YP_003024026|1149|NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits|||4535|516000||P03886|ENSG00000198888|uc064xou.1|NU1M_HUMAN|Desflurane(DB01189)_%7C_Halothane(DB01159)_%7C_Isoflurane(DB00753)_%7C_Methoxyflurane(DB01028)_%7C_Sevoflurane(DB01236)|C0JKH6_%7C_Q37523|P03886|cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_membrane_%20_(GO:0031966)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747)|NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1_expected.vcf b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1_expected.vcf index bc22be45a38..5046ab1eaf1 100644 --- a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1_expected.vcf +++ b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1_expected.vcf @@ -91,201 +91,201 @@ ##reference=/cromwell_root/broad-references/hg19/v0/Homo_sapiens_assembly19.fasta ##source=Funcotator #CHROM POS ID REF ALT QUAL FILTER INFO -chr1 752566 rs3094315 G A . PASS FUNCOTATION=[RP11-206L10.10|hg19|chr1|752566|752566|RNA||SNP|G|G|A|g.chr1:752566G>A|ENST00000435300.1|-|||c.e1-187C>T|||0.3690773067331671|CAAGAGAAACGTTTGACAGAG|FAM87B_ENST00000326734.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2817_%2C_0.7183|false|false|1||false|true|false|FAM87B:400728|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|true|false|3094315|752566|true|false|0|true|0|false|0.351947_%2C_0.648053|false|false|false|SNV|true|0x05012802000515053f000101|1|false|103|rs3094315|] -chr1 752721 rs3131972 A G . PASS FUNCOTATION=[RP11-206L10.10|hg19|chr1|752721|752721|RNA||SNP|A|A|G|g.chr1:752721A>G|ENST00000435300.1|-|||c.e1-32T>C|||0.486284289276808|AGAAAGGAAAAGGGAAGAATG|FAM87B_ENST00000326734.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3466_%2C_0.6534|false|false|1||false|true|true|FAM87B:400728|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3131972|752721|true|false|0|true|0|false|0.393296_%2C_0.606704|false|false|false|SNV|true|0x05010002000517053f000100|1|false|103|rs3131972|] -chr1 762320 exm2268640 C T . PASS FUNCOTATION=[LINC00115|hg19|chr1|762320|762320|LINCRNA||SNP|C|C|T|g.chr1:762320C>T|ENST00000473798.1|-|||c.e1-582G>A|||0.6084788029925187|ACCCAACAGTCACCGCTAGTG|RP11-206L10.11_ENST00000445118.2_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||HGNC:26211|long_%20_intergenic_%20_non-protein_%20_coding_%20_RNA_%20_115|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|NCRNA00115|"non-protein_%20_coding_%20_RNA_%20_115"|FLJ22639||1p36.33|2014-11-18|2011-08-11|2011-08-11|BC017762||79854|ENSG00000225880|12477932|XR_017693||||OTTHUMG00000141258|79854||NR_024321||ENSG00000225880|uc010nxx.3|||||||||||true|false|0.9305_%2C_0.06949|false|false|1||false|true|false|LINC01128:643837_%7C_LINC00115:79854|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|75333668|762320|false|false|0|true|0|false||false|false|false|SNV|true|0x050100020005150436000100|1|false|131|rs75333668|] -chr1 798959 rs11240777 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|798959|798959|IGR||SNP|G|G|A|g.chr1:798959G>A|no_transcript|||||||0.4089775561097257|TGGGCTTTAAGGTATGACTAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 838555 rs4970383 C A . PASS FUNCOTATION=[RP11-54O7.16|hg19|chr1|838555|838555|FIVE_PRIME_FLANK||SNP|C|C|A|g.chr1:838555C>A|ENST00000607769.1|+||||||0.5511221945137157|GACCCCATTTCACCTTAATCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 846808 rs4475691 C T . PASS FUNCOTATION=[RP11-54O7.16|hg19|chr1|846808|846808|LINCRNA||SNP|C|C|T|g.chr1:846808C>T|ENST00000607769.1|+|||c.e2-4322C>T|||0.6059850374064838|TGGTGAGCTGCGCCTTTGTGC|RP11-54O7.2_ENST00000398216.2_FIVE_PRIME_FLANK/RP11-54O7.1_ENST00000448179.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7452_%2C_0.2548|false|false|1||false|true|true|LOC284600:284600|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|4475691|846808|false|false|0|true|0|false|0.725634_%2C_0.274366|false|false|false|SNV|true|0x05010002000517053e000100|1|false|111|rs4475691|] -chr1 861349 exm41 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|861349|861349|MISSENSE||SNP|C|C|T|g.chr1:861349C>T|ENST00000342066.3|+|2|111|c.28C>T|c.(28-30)Cct>Tct|p.P10S|0.6533665835411472|GCAGGTGCATCCTCCGATCTG|AL645608.1_ENST00000598827.1_MISSENSE_p.G84E|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200686669|861349|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs200686669|] -chr1 861808 rs13302982 A G . PASS FUNCOTATION=[SAMD11|hg19|chr1|861808|861808|INTRON||SNP|A|A|G|g.chr1:861808A>G|ENST00000342066.3|+|||c.e2+415A>G|||0.6134663341645885|GGACGACAGCATTTTGGGGAG|AL645608.1_ENST00000598827.1_INTRON|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.3177_%2C_0.6823|false|false|1||false|true|false|SAMD11:148398|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|13302982|861808|false|false|0|true|0|false|0.289649_%2C_0.710351|false|false|false|SNV|true|0x05010008000515053f000100|1|false|121|rs13302982|] -chr1 865545 exm1916089 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865545|865545|MISSENSE||SNP|G|G|A|g.chr1:865545G>A|ENST00000342066.3|+|3|166|c.83G>A|c.(82-84)cGg>cAg|p.R28Q|0.6683291770573566|AACCGGGGGCGGCTGGCAGAC|AL645608.1_ENST00000598827.1_INTRON|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9972_%2C_0.002796|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201186828|865545|false|false|0|false|0|false|0.997012_%2C_0.00298784|false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs201186828|] -chr1 865584 exm44 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865584|865584|MISSENSE||SNP|G|G|A|g.chr1:865584G>A|ENST00000342066.3|+|3|205|c.122G>A|c.(121-123)cGg>cAg|p.R41Q|0.6683291770573566|CCTGCCGCCCGGAACCTGAAG|AL645608.1_ENST00000598827.1_MISSENSE_p.P53L|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.989_%2C_0.01098|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|148711625|865584|false|false|0|true|0|false|0.986984_%2C_0.013016|false|false|false|SNV|true|0x050100000a05140436000100|1|false|134|rs148711625|] -chr1 865625 exm46 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865625|865625|MISSENSE||SNP|G|G|A|g.chr1:865625G>A|ENST00000342066.3|+|3|246|c.163G>A|c.(163-165)Gat>Aat|p.D55N|0.6583541147132169|CTCTGCCAGCGATGGTGACAG|AL645608.1_ENST00000598827.1_SILENT_p.I39I|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9986_%2C_0.001398|false|false|1||false|false|false|SAMD11:148398|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146327803|865625|false|false|0|false|0|false|0.99763_%2C_0.00236967|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs146327803|] -chr1 865628 exm47 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865628|865628|MISSENSE||SNP|G|G|A|g.chr1:865628G>A|ENST00000342066.3|+|3|249|c.166G>A|c.(166-168)Ggt>Agt|p.G56S|0.655860349127182|TGCCAGCGATGGTGACAGCGA|AL645608.1_ENST00000598827.1_SILENT_p.T38T|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9972_%2C_0.002796|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|41285790|865628|false|false|0|true|0|false|0.996909_%2C_0.00309087|false|false|false|SNV|true|0x050100000a05040436000100|1|false|127|rs41285790|] -chr1 865662 exm51 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865662|865662|MISSENSE||SNP|G|G|A|g.chr1:865662G>A|ENST00000342066.3|+|3|283|c.200G>A|c.(199-201)cGg>cAg|p.R67Q|0.6433915211970075|ACCTGTGGGCGGCGGCCAGGC|AL645608.1_ENST00000598827.1_SPLICE_SITE|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9992_%2C_0.0007987|false|false|0||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|140751899|865662|false|false|0|false|0|false|0.997836_%2C_0.00216361|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs140751899|] -chr1 865665 exm53 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865665|865665|MISSENSE||SNP|G|G|A|g.chr1:865665G>A|ENST00000342066.3|+|3|286|c.203G>A|c.(202-204)cGg>cAg|p.R68Q|0.6408977556109726|TGTGGGCGGCGGCCAGGCTTG|AL645608.1_ENST00000598827.1_SPLICE_SITE|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|145442390|865665|false|false|0|false|0|false|0.999141_%2C_0.000858575|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs145442390|] -chr1 865694 exm55 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|865694|865694|MISSENSE||SNP|C|C|T|g.chr1:865694C>T|ENST00000342066.3|+|3|315|c.232C>T|c.(232-234)Cac>Tac|p.H78Y|0.6359102244389028|GGATGGTCCGCACATCCGTAT|AL645608.1_ENST00000598827.1_MISSENSE_p.C18Y|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9475_%2C_0.05252|false|false|1||false|true|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|9988179|865694|false|false|0|true|0|false|0.976441_%2C_0.0235593|false|false|false|SNV|true|0x050100000a05150436000100|1|false|119|rs9988179|] -chr1 865700 exm56 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|865700|865700|MISSENSE||SNP|C|C|T|g.chr1:865700C>T|ENST00000342066.3|+|3|321|c.238C>T|c.(238-240)Cgt>Tgt|p.R80C|0.6384039900249376|TCCGCACATCCGTATCATGAA|AL645608.1_ENST00000598827.1_MISSENSE_p.R16Q|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|116730894|865700|false|false|0|true|0|false|0.997802_%2C_0.00219795|false|false|false|SNV|true|0x050100000a05040436000100|1|false|132|rs116730894|] -chr1 866429 exm60 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|866429|866429|MISSENSE||SNP|C|C|T|g.chr1:866429C>T|ENST00000342066.3|+|4|348|c.265C>T|c.(265-267)Cac>Tac|p.H89Y|0.6384039900249376|AGTCCACACCCACTGGGACGT|AL645608.1_ENST00000598827.1_NONSENSE_p.W6*|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144317111|866429|false|false|0|false|0|false|0.999691_%2C_0.000309108|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs144317111|] -chr1 871276 exm85 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|871276|871276|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:871276G>A|ENST00000342066.3|+|5|513|c.430G>A|c.(430-432)Ggt>Agt|p.G144S|0.6758104738154613|GCGACCCGCCGGTGAGGAGCA|AL645608.1_ENST00000598827.1_FIVE_PRIME_FLANK/SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146347471|871276|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs146347471|] -chr1 878697 exm151 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|878697|878697|NONSENSE||SNP|G|G|A|g.chr1:878697G>A|ENST00000342066.3|+|12|1712|c.1629G>A|c.(1627-1629)tgG>tgA|p.W543*|0.6458852867830424|TCACCAAGTGGACCGTGGATG||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|147226614|878697|false|true|0|false|0|false||false|false|false|SNV|true|0x050200080605040402000100|1|false|134|rs147226614|] -chr1 880167 exm2253572 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|880167|880167|SILENT||SNP|G|G|A|g.chr1:880167G>A|ENST00000327044.6|-|19|2207|c.2157C>T|c.(2155-2157)gaC>gaT|p.D719D|0.6134663341645885|CCGCCTCTGCGTCTGGGTCTC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|SAMD11:148398_%7C_NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|201894720|880167|false|false|0|false|0|true||false|false|false|SNV|true|0x050000040305040402000100|1|false|137|rs201894720|] -chr1 880943 exm249 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|880943|880943|SILENT||SNP|G|G|A|g.chr1:880943G>A|ENST00000327044.6|-|17|2058|c.2008C>T|c.(2008-2010)Ctg>Ttg|p.L670L|0.6159600997506235|GAGCTGTTCAGGTCAAAGAGG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9988_%2C_0.001198_%2C_.|false|false|1||false|false|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|113650656|880943|false|false|0|true|0|true|0.998489_%2C_0.00144241_%2C_6.8686e-005|false|false|false|SNV|true|0x050100000b05040536000100|1|false|132|rs113650656|] -chr1 881554 exm255 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|881554|881554|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:881554C>T|ENST00000327044.6|-|16|1966|c.1916G>A|c.(1915-1917)cGg>cAg|p.R639Q|0.628428927680798|GAGCCGCACCCGCTCTTTGCC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147322750|881554|false|false|0|false|0|false|0.999725_%2C_0.000274744|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs147322750|] -chr1 881627 exm2253575 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|881627|881627|SILENT||SNP|G|G|A|g.chr1:881627G>A|ENST00000327044.6|-|16|1893|c.1843C>T|c.(1843-1845)Ctg>Ttg|p.L615L|0.6408977556109726|TACAAGGTCAGGGGTGTCCCC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.5581_%2C_0.4419|false|false|1||false|true|true|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|2272757|881627|true|false|0|true|0|true|0.601312_%2C_0.398688|false|false|false|SNV|true|0x050100000305170536000100|1|false|100|rs2272757|] -chr1 887521 variant.16 T C . PASS FUNCOTATION=[NOC2L|hg19|chr1|887521|887521|SPLICE_SITE|INTRON|SNP|T|T|C|g.chr1:887521T>C|ENST00000327044.6|-|||c.e11+2A>G|c.e11-2||0.6059850374064838|GTATGTTTCCTGGTCAGAGAG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|true||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|377598297|887521|false|false|0|false|0|false||false|false|false|SNV|false|0x050000200005000402000100|1|false|138|rs377598297|] -chr1 891309 exm360 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|891309|891309|MISSENSE||SNP|C|C|T|g.chr1:891309C>T|ENST00000327044.6|-|6|742|c.692G>A|c.(691-693)aGc>aAc|p.S231N|0.5960099750623441|TTACCTGCTGCTATCCTTTGC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|148852075|891309|false|false|0|false|0|false|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs148852075|] -chr1 891358 exm369 G T . PASS FUNCOTATION=[NOC2L|hg19|chr1|891358|891358|MISSENSE||SNP|G|G|T|g.chr1:891358G>T|ENST00000327044.6|-|6|693|c.643C>A|c.(643-645)Ctc>Atc|p.L215I|0.5910224438902744|CAGCCAATGAGGTCTCTGATG|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9994_%2C_._%2C_0.000599|false|false|0||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147225789|891358|false|false|0|true|0|false|0.999107_%2C_6.8686e-005_%2C_0.000824232|false|false|false|SNV|true|0x050100000a05040436000100|1|false|134|rs147225789|] -chr1 891384 exm371 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891384|891384|MISSENSE||SNP|G|G|A|g.chr1:891384G>A|ENST00000327044.6|-|6|667|c.617C>T|c.(616-618)gCt>gTt|p.A206V|0.57356608478803|GGTAACCAGAGCATTGAATGC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|139726958|891384|false|false|0|false|0|false|0.99976_%2C_0.000240401|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs139726958|] -chr1 891393 exm372 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891393|891393|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:891393G>A|ENST00000327044.6|-|6|658|c.608C>T|c.(607-609)gCa>gTa|p.A203V|0.5785536159600998|AGCATTGAATGCTGCAACGAA|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|113620763|891393|false|false|0|true|0|false|0.998523_%2C_0.00147675|false|false|false|SNV|true|0x050100000a05040536000100|1|false|132|rs113620763|] -chr1 894573 exm2264981 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|894573|894573|INTRON||SNP|G|G|A|g.chr1:894573G>A|ENST00000327044.6|-|||c.e1-22C>T|||0.6932668329177057|AGGCCAAATCGGCCCTCGGAC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.3656_%2C_0.6344|false|false|1||false|true|true|KLHL17:339451_%7C_NOC2L:26155|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|13303010|894573|false|false|0|true|0|false|0.400467_%2C_0.599533|false|false|false|SNV|true|0x0501000a000517053f000100|1|false|121|rs13303010|] -chr1 900427 exm596 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|900427|900427|SILENT||SNP|G|G|A|g.chr1:900427G>A|ENST00000338591.3|+|12|1892|c.1785G>A|c.(1783-1785)gaG>gaA|p.E595E|0.6508728179551122|ACTCCATCGAGAAGTACAACC|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.9649_%2C_0.03514|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|115741058|900427|false|true|0|true|0|true|0.949413_%2C_0.0505873|false|false|false|SNV|true|0x05030002030515043e000100|1|false|132|rs115741058|] -chr1 904165 rs28391282 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|904165|904165|INTRON||SNP|G|G|A|g.chr1:904165G>A|ENST00000379410.3|+|||c.e3-1492G>A|||0.57356608478803|TAAGGAGGGGGGTCAGGACTG|PLEKHN1_ENST00000379407.3_INTRON/PLEKHN1_ENST00000379409.2_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.8982_%2C_0.1018|false|false|1||false|true|false|PLEKHN1:84069|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28391282|904165|false|false|0|true|0|false|0.908098_%2C_0.0919019|false|false|false|SNV|true|0x05010008000515053f000100|1|false|125|rs28391282|] -chr1 906472 exm1918903 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906472|906472|INTRON||SNP|G|G|A|g.chr1:906472G>A|ENST00000379410.3|+|||c.e7-21G>A|||0.7082294264339152|CTGCGGAGACGAACTCCCCTG|PLEKHN1_ENST00000379407.3_MISSENSE_p.E210K/PLEKHN1_ENST00000379409.2_MISSENSE_p.E250K|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|PLEKHN1:84069|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201680039|906472|false|false|0|false|0|false|0.999347_%2C_0.000652517|false|false|false|SNV|true|0x050000080a05040436000100|1|false|137|rs201680039|] -chr1 908390 exm739 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|908390|908390|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:908390G>A|ENST00000379410.3|+|11|1187|c.1152G>A|c.(1150-1152)ccG>ccA|p.P384P|0.6583541147132169|AGCACACACCGGTGAGCGCTT|PLEKHN1_ENST00000379407.3_SPLICE_SITE_p.P396P/PLEKHN1_ENST00000379409.2_SPLICE_SITE_p.P436P|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9968_%2C_0.003195|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|148169601|908390|false|false|0|false|0|true|0.999897_%2C_0.000103029|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs148169601|] -chr1 908585 exm741 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|908585|908585|MISSENSE||SNP|G|G|A|g.chr1:908585G>A|ENST00000379410.3|+|12|1207|c.1172G>A|c.(1171-1173)cGt>cAt|p.R391H|0.6633416458852868|AACTCTGACCGTGCCAGCATT|PLEKHN1_ENST00000379407.3_INTRON/PLEKHN1_ENST00000379409.2_MISSENSE_p.R443H|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|PLEKHN1:84069|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|76884838|908585|false|false|0|false|0|false||false|false|false|SNV|false|0x050000080a05000436000100|1|false|131|rs76884838|] -chr1 908587 exm742 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|908587|908587|MISSENSE||SNP|G|G|A|g.chr1:908587G>A|ENST00000379410.3|+|12|1209|c.1174G>A|c.(1174-1176)Gcc>Acc|p.A392T|0.6633416458852868|CTCTGACCGTGCCAGCATTGG|PLEKHN1_ENST00000379407.3_INTRON/PLEKHN1_ENST00000379409.2_MISSENSE_p.A444T|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|PLEKHN1:84069|false|true|true|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|375212442|908587|false|false|0|false|0|false|0.998626_%2C_0.00137372|false|false|false|SNV|true|0x050000080a05040426000100|1|false|138|rs375212442|] -chr1 909320 exm2253598 C T . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|909320|909320|SILENT||SNP|C|C|T|g.chr1:909320C>T|ENST00000379410.3|+|14|1577|c.1542C>T|c.(1540-1542)ccC>ccT|p.P514P|0.6957605985037406|CCTCCGGCCCCGCTGGCCCCT|PLEKHN1_ENST00000379407.3_SILENT_p.P479P/PLEKHN1_ENST00000379409.2_SILENT_p.P566P|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9986_%2C_0.001398|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|144710974|909320|false|false|0|false|0|true|0.998077_%2C_0.00192334|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs144710974|] -chr1 918573 rs2341354 A G . PASS FUNCOTATION=[C1orf170|hg19|chr1|918573|918573|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:918573A>G|ENST00000341290.2|-||||||0.6408977556109726|CGAACCTCTCACATTTCCAGG|C1orf170_ENST00000433179.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||||||||||||||||||||||||||||||||||PERM1_HUMAN||Q6ZVZ7_%7C_Q9BRF2_%7C_S5G239|Q5SV97|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_response_%20_to_%20_muscle_%20_activity_%20_(GO:0014850)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 928836 rs9777703 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|928836|928836|IGR||SNP|C|C|T|g.chr1:928836C>T|no_transcript|||||||0.5985037406483791|TTCCTAAAGCCGAACTGGAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 932457 rs1891910 G A . PASS FUNCOTATION=[RP11-54O7.17|hg19|chr1|932457|932457|LINCRNA||SNP|G|G|A|g.chr1:932457G>A|ENST00000606034.1|-|||c.e1-974C>T|||0.6408977556109726|CATTCAAAGGGATGGATTAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8684_%2C_0.1316_%2C_.|false|false|1||false|true|false||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|1891910|932457|false|false|0|true|0|false|0.840569_%2C_0.159397_%2C_3.43454e-005|false|false|false|SNV|true|0x05010000000515053f000100|1|false|92|rs1891910|] -chr1 934735 exm860 A C . PASS FUNCOTATION=[HES4|hg19|chr1|934735|934735|MISSENSE||SNP|A|A|C|g.chr1:934735A>C|ENST00000304952.6|-|4|508|c.370T>G|c.(370-372)Ttc>Gtc|p.F124V|0.7805486284289277|CCGGCCAGGAAGCGGTTCACC|HES4_ENST00000428771.2_MISSENSE_p.F150V/HES4_ENST00000484667.2_MISSENSE_p.F92V/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC012351|||HGNC:24149|hes_%20_family_%20_bHLH_%20_transcription_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"hairy_%20_and_%20_enhancer_%20_of_%20_split_%20_4_%20_(Drosophila)"|bHLHb42||1p36.33|2016-10-05||2013-10-17|BC012351||57801|ENSG00000188290|11260262_%2C__%20_15254753|NM_021170|420|Basic_%20_helix-loop-helix_%20_proteins|CCDS5_%2C__%20_CCDS44034|OTTHUMG00000040758|57801|608060|NM_001142467|Q9HCC6|ENSG00000188290|uc001aci.3|HES4_HUMAN||Q5SVA5|Q9HCC6|cell_%20_differentiation_%20_(GO:0030154)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)||||true|false|0.9986_%2C_0.001398|false|false|1||false|false|false|HES4:57801|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200527634|934735|false|false|0|false|0|false|0.99763_%2C_0.00236967|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs200527634|] -chr1 934770 exm861 G A . PASS FUNCOTATION=[HES4|hg19|chr1|934770|934770|MISSENSE||SNP|G|G|A|g.chr1:934770G>A|ENST00000304952.6|-|4|473|c.335C>T|c.(334-336)gCc>gTc|p.A112V|0.7680798004987531|GTGGAAGCCGGCGCGGTACTT|HES4_ENST00000428771.2_MISSENSE_p.A138V/HES4_ENST00000484667.2_MISSENSE_p.A80V/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC012351|||HGNC:24149|hes_%20_family_%20_bHLH_%20_transcription_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"hairy_%20_and_%20_enhancer_%20_of_%20_split_%20_4_%20_(Drosophila)"|bHLHb42||1p36.33|2016-10-05||2013-10-17|BC012351||57801|ENSG00000188290|11260262_%2C__%20_15254753|NM_021170|420|Basic_%20_helix-loop-helix_%20_proteins|CCDS5_%2C__%20_CCDS44034|OTTHUMG00000040758|57801|608060|NM_001142467|Q9HCC6|ENSG00000188290|uc001aci.3|HES4_HUMAN||Q5SVA5|Q9HCC6|cell_%20_differentiation_%20_(GO:0030154)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)||||true|false|0.9994_%2C_0.000599|false|false|1||false|false|false|HES4:57801|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201391049|934770|false|false|0|false|0|false|0.999451_%2C_0.000549488|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs201391049|] -chr1 934801 exm866 C T . PASS FUNCOTATION=[HES4|hg19|chr1|934801|934801|MISSENSE||SNP|C|C|T|g.chr1:934801C>T|ENST00000304952.6|-|4|442|c.304G>A|c.(304-306)Gcc>Acc|p.A102T|0.7581047381546134|GCGGGGTCGGCGCTGAGCGCG|HES4_ENST00000428771.2_MISSENSE_p.A128T/HES4_ENST00000484667.2_MISSENSE_p.A70T/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC012351|||HGNC:24149|hes_%20_family_%20_bHLH_%20_transcription_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"hairy_%20_and_%20_enhancer_%20_of_%20_split_%20_4_%20_(Drosophila)"|bHLHb42||1p36.33|2016-10-05||2013-10-17|BC012351||57801|ENSG00000188290|11260262_%2C__%20_15254753|NM_021170|420|Basic_%20_helix-loop-helix_%20_proteins|CCDS5_%2C__%20_CCDS44034|OTTHUMG00000040758|57801|608060|NM_001142467|Q9HCC6|ENSG00000188290|uc001aci.3|HES4_HUMAN||Q5SVA5|Q9HCC6|cell_%20_differentiation_%20_(GO:0030154)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)||||true|false|0.9974_%2C_0.002596|false|false|1||false|false|false|HES4:57801|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200512735|934801|false|false|0|false|0|false|0.999313_%2C_0.00068686|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs200512735|] -chr1 935085 exm878 G A . PASS FUNCOTATION=[HES4|hg19|chr1|935085|935085|MISSENSE||SNP|G|G|A|g.chr1:935085G>A|ENST00000304952.6|-|2|329|c.191C>T|c.(190-192)gCc>gTc|p.A64V|0.7107231920199502|TTTTCTGAGGGCGTCCAGGAT|HES4_ENST00000428771.2_MISSENSE_p.A90V/HES4_ENST00000484667.2_INTRON/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC012351|||HGNC:24149|hes_%20_family_%20_bHLH_%20_transcription_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"hairy_%20_and_%20_enhancer_%20_of_%20_split_%20_4_%20_(Drosophila)"|bHLHb42||1p36.33|2016-10-05||2013-10-17|BC012351||57801|ENSG00000188290|11260262_%2C__%20_15254753|NM_021170|420|Basic_%20_helix-loop-helix_%20_proteins|CCDS5_%2C__%20_CCDS44034|OTTHUMG00000040758|57801|608060|NM_001142467|Q9HCC6|ENSG00000188290|uc001aci.3|HES4_HUMAN||Q5SVA5|Q9HCC6|cell_%20_differentiation_%20_(GO:0030154)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|HES4:57801|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144665333|935085|false|false|0|false|0|false|0.999004_%2C_0.000995948|false|false|false|SNV|true|0x050000080a05040436000100|1|false|134|rs144665333|] -chr1 935089 exm880 C G . PASS FUNCOTATION=[HES4|hg19|chr1|935089|935089|MISSENSE||SNP|C|C|G|g.chr1:935089C>G|ENST00000304952.6|-|2|325|c.187G>C|c.(187-189)Gac>Cac|p.D63H|0.7107231920199502|CTGAGGGCGTCCAGGATGAGG|HES4_ENST00000428771.2_MISSENSE_p.D89H/HES4_ENST00000484667.2_INTRON/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC012351|||HGNC:24149|hes_%20_family_%20_bHLH_%20_transcription_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"hairy_%20_and_%20_enhancer_%20_of_%20_split_%20_4_%20_(Drosophila)"|bHLHb42||1p36.33|2016-10-05||2013-10-17|BC012351||57801|ENSG00000188290|11260262_%2C__%20_15254753|NM_021170|420|Basic_%20_helix-loop-helix_%20_proteins|CCDS5_%2C__%20_CCDS44034|OTTHUMG00000040758|57801|608060|NM_001142467|Q9HCC6|ENSG00000188290|uc001aci.3|HES4_HUMAN||Q5SVA5|Q9HCC6|cell_%20_differentiation_%20_(GO:0030154)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)||||true|false||false|false|||false|false|false|HES4:57801|false|true|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144493256|935089|false|false|0|false|0|false||false|false|false|SNV|true|0x050000080a05040402000100|1|false|134|rs144493256|] -chr1 944564 rs3128117 T C . PASS FUNCOTATION=[ISG15|hg19|chr1|944564|944564|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:944564T>C|ENST00000379389.4|+||||||0.47880299251870323|AGAATACATTTCTGTGGTGTG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M21786|NM_005101.3|NP_005092.1|HGNC:4053|ISG15_%20_ubiquitin-like_%20_modifier|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|G1P2|"interferon_%2C__%20_alpha-inducible_%20_protein_%20_(clone_%20_IFI-15K)"|IFI15_%2C__%20_UCRP||1p36.33|2015-08-25|2006-04-28|2006-04-28|BC009507||9636|ENSG00000187608|3087979|NM_005101|||CCDS6|OTTHUMG00000040777|9636|147571|NM_005101|P05161|ENSG00000187608|uc001acj.5|ISG15_HUMAN||Q5SVA4_%7C_Q7Z2G2_%7C_Q96GF0|P05161|cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_defense_%20_response_%20_to_%20_bacterium_%20_(GO:0042742)_%7C_defense_%20_response_%20_to_%20_virus_%20_(GO:0051607)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_ISG15-protein_%20_conjugation_%20_(GO:0032020)_%7C_modification-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0019941)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032480)_%7C_negative_%20_regulation_%20_of_%20_viral_%20_genome_%20_replication_%20_(GO:0045071)_%7C_positive_%20_regulation_%20_of_%20_erythrocyte_%20_differentiation_%20_(GO:0045648)_%7C_regulation_%20_of_%20_interferon-gamma_%20_production_%20_(GO:0032649)_%7C_response_%20_to_%20_type_%20_I_%20_interferon_%20_(GO:0034340)_%7C_type_%20_I_%20_interferon_%20_signaling_%20_pathway_%20_(GO:0060337)_%7C_viral_%20_process_%20_(GO:0016032)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|protein_%20_tag_%20_(GO:0031386)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 981345 exm1123 C T . PASS FUNCOTATION=[AGRN|hg19|chr1|981345|981345|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:981345C>T|ENST00000379370.2|+|16|2732|c.2682C>T|c.(2680-2682)gaC>gaT|p.D894D|0.6583541147132169|GTGCCCCAGACGCTTCTGCGC||||||||||||||||||||||||||163|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(45)_%7C_kidney(1)_%7C_large_intestine(35)_%7C_lung(2)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(24)|||||||U84406|NM_198576.3|NP_940978.2|HGNC:329|agrin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AGRIN|"agrin_%20_proteoglycan"|||1p36.33|2017-07-07|2007-02-16||XM_372195||375790|ENSG00000188157|1851019_%2C__%20_12270958|NM_198576|570|Proteoglycans|CCDS30551|OTTHUMG00000040778|375790|103320|NM_001305275|O00468|ENSG00000188157|uc001ack.3|AGRIN_HUMAN||Q5SVA1_%7C_Q5SVA2_%7C_Q60FE1_%7C_Q7KYS8_%7C_Q8N4J5_%7C_Q96IC1_%7C_Q9BTD4|O00468|axon_%20_guidance_%20_(GO:0007411)_%7C_carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_clustering_%20_of_%20_voltage-gated_%20_sodium_%20_channels_%20_(GO:0045162)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_glycosaminoglycan_%20_biosynthetic_%20_process_%20_(GO:0006024)_%7C_glycosaminoglycan_%20_catabolic_%20_process_%20_(GO:0006027)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_receptor_%20_metabolic_%20_process_%20_(GO:0045213)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_plasma_%20_membrane_%20_organization_%20_(GO:0007009)_%7C_positive_%20_regulation_%20_of_%20_filopodium_%20_assembly_%20_(GO:0051491)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_growth_%20_at_%20_neuromuscular_%20_junction_%20_(GO:0045887)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synapse_%20_organization_%20_(GO:0050808)|basal_%20_lamina_%20_(GO:0005605)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|acetylcholine_%20_receptor_%20_regulator_%20_activity_%20_(GO:0030548)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_chondroitin_%20_sulfate_%20_binding_%20_(GO:0035374)_%7C_dystroglycan_%20_binding_%20_(GO:0002162)_%7C_heparan_%20_sulfate_%20_proteoglycan_%20_binding_%20_(GO:0043395)_%7C_laminin_%20_binding_%20_(GO:0043236)_%7C_sialic_%20_acid_%20_binding_%20_(GO:0033691)_%7C_structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)||||true|false|0.998_%2C_0.001997|false|false|1||false|false|false|AGRN:375790|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|118105080|981345|false|false|0|true|0|true|0.99976_%2C_0.000240401|false|false|false|SNV|true|0x050128000305040436000100|1|false|132|rs118105080|] -chr1 990417 rs2465136 T C . PASS FUNCOTATION=[AGRN|hg19|chr1|990417|990417|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:990417T>C|ENST00000379370.2|+|36|||||0.6458852867830424|GTAAACTTGTTGCTTTTTGAT|RP11-54O7.14_ENST00000418300.1_RNA/RP11-465B22.3_ENST00000427998.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||163|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(45)_%7C_kidney(1)_%7C_large_intestine(35)_%7C_lung(2)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(24)|||||||U84406|NM_198576.3|NP_940978.2|HGNC:329|agrin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AGRIN|"agrin_%20_proteoglycan"|||1p36.33|2017-07-07|2007-02-16||XM_372195||375790|ENSG00000188157|1851019_%2C__%20_12270958|NM_198576|570|Proteoglycans|CCDS30551|OTTHUMG00000040778|375790|103320|NM_001305275|O00468|ENSG00000188157|uc001ack.3|AGRIN_HUMAN||Q5SVA1_%7C_Q5SVA2_%7C_Q60FE1_%7C_Q7KYS8_%7C_Q8N4J5_%7C_Q96IC1_%7C_Q9BTD4|O00468|axon_%20_guidance_%20_(GO:0007411)_%7C_carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_clustering_%20_of_%20_voltage-gated_%20_sodium_%20_channels_%20_(GO:0045162)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_glycosaminoglycan_%20_biosynthetic_%20_process_%20_(GO:0006024)_%7C_glycosaminoglycan_%20_catabolic_%20_process_%20_(GO:0006027)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_receptor_%20_metabolic_%20_process_%20_(GO:0045213)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_plasma_%20_membrane_%20_organization_%20_(GO:0007009)_%7C_positive_%20_regulation_%20_of_%20_filopodium_%20_assembly_%20_(GO:0051491)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_growth_%20_at_%20_neuromuscular_%20_junction_%20_(GO:0045887)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synapse_%20_organization_%20_(GO:0050808)|basal_%20_lamina_%20_(GO:0005605)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|acetylcholine_%20_receptor_%20_regulator_%20_activity_%20_(GO:0030548)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_chondroitin_%20_sulfate_%20_binding_%20_(GO:0035374)_%7C_dystroglycan_%20_binding_%20_(GO:0002162)_%7C_heparan_%20_sulfate_%20_proteoglycan_%20_binding_%20_(GO:0043395)_%7C_laminin_%20_binding_%20_(GO:0043236)_%7C_sialic_%20_acid_%20_binding_%20_(GO:0033691)_%7C_structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)||||true|false|0.616_%2C_0.384|false|false|1||false|true|true|AGRN:375790|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2465136|990417|true|false|0|true|0|false|0.565114_%2C_0.434886|false|true|false|SNV|true|0x05010080000517053f000100|1|false|100|rs2465136|] -chr1 998395 rs7526076 A G . PASS FUNCOTATION=[RP11-465B22.3|hg19|chr1|998395|998395|RNA||SNP|A|A|G|g.chr1:998395A>G|ENST00000427998.1|+|||c.e3-64A>G|||0.655860349127182|CGTGGAAACAATGAGGGAGGT|RP11-54O7.18_ENST00000442292.2_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1777_%2C_0.8223|false|false|1||false|true|true|LOC100288175:100288175|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7526076|998395|false|false|0|true|0|false|0.225771_%2C_0.774229|false|false|false|SNV|true|0x05010008000517053f000100|1|false|116|rs7526076|] -chr1 1062638 rs9442373 C A . PASS FUNCOTATION=[Unknown|hg19|chr1|1062638|1062638|IGR||SNP|C|C|A|g.chr1:1062638C>A|no_transcript|||||||0.543640897755611|CCCGGCCCGCCGCAGCTTTAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1066403 rs10907182 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1066403|1066403|IGR||SNP|T|T|C|g.chr1:1066403T>C|no_transcript|||||||0.5935162094763092|GGTCCGGCAATGGCATCCCAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1097335 rs9442385 T G . PASS FUNCOTATION=[Unknown|hg19|chr1|1097335|1097335|IGR||SNP|T|T|G|g.chr1:1097335T>G|no_transcript|||||||0.6309226932668329|GGGCTCTTCCTCTGGGAGATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1106784 rs4442317 T C . PASS FUNCOTATION=[TTLL10|hg19|chr1|1106784|1106784|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:1106784T>C|ENST00000379289.1|+||||||0.6683291770573566|GAAGGGCCAGTTCTGGAGAGG|TTLL10_ENST00000379290.1_FIVE_PRIME_FLANK/TTLL10_ENST00000506177.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|NM_001130045.1|NP_001123517.1|HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 1115954 exm1571 C T . PASS FUNCOTATION=[TTLL10|hg19|chr1|1115954|1115954|NONSENSE||SNP|C|C|T|g.chr1:1115954C>T|ENST00000379290.1|+|7|771|c.598C>T|c.(598-600)Cga>Tga|p.R200*|0.6907730673316709|GGTCAAGAGCCGAGACAGCTA|TTLL10_ENST00000379289.1_NONSENSE_p.R200*/TTLL10_ENST00000379288.3_NONSENSE_p.R127*/TTLL10-AS1_ENST00000379317.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|TTLL10:254173|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|191284590|1115954|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000605040436000100|1|false|135|rs191284590|] -chr1 1120536 psy_rs77950429 G A . PASS FUNCOTATION=[TTLL10|hg19|chr1|1120536|1120536|INTRON||SNP|G|G|A|g.chr1:1120536G>A|ENST00000379290.1|+|||c.e13+47G>A|||0.6384039900249376|CCCTCGGGGCGGGGGTGTGTG|TTLL10_ENST00000379289.1_INTRON/TTLL10_ENST00000379288.3_THREE_PRIME_UTR|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.9483_%2C_0.05172|false|false|1||false|true|false|TTLL10:254173|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|77950429|1120536|false|false|0|true|0|false|0.976578_%2C_0.0234219|false|true|false|SNV|true|0x050100880005150536000100|1|false|131|rs77950429|] -chr1 1138913 rs3819001 T C . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1138913|1138913|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:1138913T>C|ENST00000379268.2|-|5|||||0.6783042394014963|TTATTGAAGGTCCCCTGCAGC|TNFRSF18_ENST00000328596.6_THREE_PRIME_UTR|GBM(157_%3B_472_%20_1934_%20_13810_%20_14591_%20_35952)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_148902.1|NP_683700.1|HGNC:11914|TNF_%20_receptor_%20_superfamily_%20_member_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_18"|AITR_%2C__%20_GITR_%2C__%20_CD357||1p36.33|2016-10-05||2016-06-28|AF125304||8784|ENSG00000186891|9177197_%2C__%20_10037686|NM_004195|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS9_%2C__%20_CCDS10_%2C__%20_CCDS30552|OTTHUMG00000001414|8784|603905|NM_004195|Q9Y5U5|ENSG00000186891|uc001add.4|TNR18_HUMAN||B1AME1_%7C_O95851_%7C_Q5U0I4_%7C_Q9NYJ9|Q9Y5U5|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)||||true|false|0.8015_%2C_0.1985|false|false|1||false|true|false|TNFRSF18:8784|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3819001|1138913|true|false|0|true|0|false|0.781922_%2C_0.218078|false|true|false|SNV|true|0x05010080000515053f000100|1|false|107|rs3819001|] -chr1 1139062 exm1677 G A . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1139062|1139062|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:1139062G>A|ENST00000379268.2|-|5|||||0.685785536159601|CGCGGCCGCCGAACTGCATGG|TNFRSF18_ENST00000328596.6_MISSENSE_p.S226L|GBM(157_%3B_472_%20_1934_%20_13810_%20_14591_%20_35952)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_148902.1|NP_683700.1|HGNC:11914|TNF_%20_receptor_%20_superfamily_%20_member_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_18"|AITR_%2C__%20_GITR_%2C__%20_CD357||1p36.33|2016-10-05||2016-06-28|AF125304||8784|ENSG00000186891|9177197_%2C__%20_10037686|NM_004195|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS9_%2C__%20_CCDS10_%2C__%20_CCDS30552|OTTHUMG00000001414|8784|603905|NM_004195|Q9Y5U5|ENSG00000186891|uc001add.4|TNR18_HUMAN||B1AME1_%7C_O95851_%7C_Q5U0I4_%7C_Q9NYJ9|Q9Y5U5|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|TNFRSF18:8784|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200799216|1139062|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|true|false|SNV|true|0x050000800a05040436000100|1|false|137|rs200799216|] -chr1 1139268 exm1688 G A . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1139268|1139268|NONSENSE||SNP|G|G|A|g.chr1:1139268G>A|ENST00000379268.2|-|5|802|c.682C>T|c.(682-684)Cga>Tga|p.R228*|0.7007481296758105|TCTGCCGATCGCTCGCCCCGC|TNFRSF18_ENST00000379265.5_NONSENSE_p.R221*/TNFRSF18_ENST00000486728.1_NONSENSE_p.R156*/TNFRSF18_ENST00000328596.6_SILENT_p.S157S|GBM(157_%3B_472_%20_1934_%20_13810_%20_14591_%20_35952)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_148902.1|NP_683700.1|HGNC:11914|TNF_%20_receptor_%20_superfamily_%20_member_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_18"|AITR_%2C__%20_GITR_%2C__%20_CD357||1p36.33|2016-10-05||2016-06-28|AF125304||8784|ENSG00000186891|9177197_%2C__%20_10037686|NM_004195|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS9_%2C__%20_CCDS10_%2C__%20_CCDS30552|OTTHUMG00000001414|8784|603905|NM_004195|Q9Y5U5|ENSG00000186891|uc001add.4|TNR18_HUMAN||B1AME1_%7C_O95851_%7C_Q5U0I4_%7C_Q9NYJ9|Q9Y5U5|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)||||true|false||false|false|||false|false|false|TNFRSF18:8784|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|142584447|1139268|false|false|0|false|0|true|0.999107_%2C_0.000892918|false|false|false|SNV|true|0x050000000705040402000100|1|false|134|rs142584447|] -chr1 1140855 exm1726 C T . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1140855|1140855|MISSENSE||SNP|C|C|T|g.chr1:1140855C>T|ENST00000379268.2|-|2|325|c.205G>A|c.(205-207)Gag>Aag|p.E69K|0.6658354114713217|CAGTCCCACTCGGAACAGCAC|TNFRSF18_ENST00000379265.5_MISSENSE_p.E69K/TNFRSF18_ENST00000328596.6_MISSENSE_p.E69K/TNFRSF18_ENST00000486728.1_FIVE_PRIME_UTR|GBM(157_%3B_472_%20_1934_%20_13810_%20_14591_%20_35952)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_148902.1|NP_683700.1|HGNC:11914|TNF_%20_receptor_%20_superfamily_%20_member_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_18"|AITR_%2C__%20_GITR_%2C__%20_CD357||1p36.33|2016-10-05||2016-06-28|AF125304||8784|ENSG00000186891|9177197_%2C__%20_10037686|NM_004195|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS9_%2C__%20_CCDS10_%2C__%20_CCDS30552|OTTHUMG00000001414|8784|603905|NM_004195|Q9Y5U5|ENSG00000186891|uc001add.4|TNR18_HUMAN||B1AME1_%7C_O95851_%7C_Q5U0I4_%7C_Q9NYJ9|Q9Y5U5|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)||||true|false|0.9992_%2C_0.0007987|false|false|0||false|false|false|TNFRSF18:8784|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|143092669|1140855|false|false|0|false|0|false|0.999107_%2C_0.000892918|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs143092669|] -chr1 1152917 exm1808 G A . PASS FUNCOTATION=[SDF4|hg19|chr1|1152917|1152917|MISSENSE||SNP|G|G|A|g.chr1:1152917G>A|ENST00000360001.6|-|7|1327|c.1064C>T|c.(1063-1065)gCg>gTg|p.A355V|0.7082294264339152|CACGCTGCGCGCGTAGTCCAC|SDF4_ENST00000263741.7_THREE_PRIME_UTR/TNFRSF4_ENST00000379236.3_FIVE_PRIME_FLANK/TNFRSF4_ENST00000453580.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||L79912|||HGNC:24188|stromal_%20_cell_%20_derived_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Cab45|"calcium_%20_binding_%20_protein"|1p36.33|2014-11-19|||||51150|ENSG00000078808|9254016_%2C__%20_8609160|NM_016176|863|EF-hand_%20_domain_%20_containing|CCDS12_%2C__%20_CCDS30553|OTTHUMG00000001812|51150|614282|NM_016176|Q9BRK5|ENSG00000078808|uc001adi.5|CAB45_HUMAN||B1AME5_%7C_B1AME6_%7C_B2RDF1_%7C_B4DSM1_%7C_Q53G52_%7C_Q53HQ9_%7C_Q8NBQ3_%7C_Q96AA1_%7C_Q9NZP7_%7C_Q9UN53|Q9BRK5|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_cerebellum_%20_development_%20_(GO:0021549)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_UV_%20_protection_%20_(GO:0009650)_%7C_zymogen_%20_granule_%20_exocytosis_%20_(GO:0070625)|cell_%20_projection_%20_(GO:0042995)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||true|false||false|false|||false|false|false|SDF4:51150|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|113021852|1152917|false|false|0|true|0|false|0.999863_%2C_0.000137372_%2C_.|false|true|false|SNV|true|0x050100800a05040502000100|1|false|132|rs113021852|] -chr1 1152971 exm1812 T C . PASS FUNCOTATION=[SDF4|hg19|chr1|1152971|1152971|MISSENSE||SNP|T|T|C|g.chr1:1152971T>C|ENST00000360001.6|-|7|1273|c.1010A>G|c.(1009-1011)gAg>gGg|p.E337G|0.6907730673316709|GAGCACCTCCTCGGGCTCCAG|SDF4_ENST00000263741.7_THREE_PRIME_UTR/TNFRSF4_ENST00000379236.3_FIVE_PRIME_FLANK/TNFRSF4_ENST00000453580.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||L79912|||HGNC:24188|stromal_%20_cell_%20_derived_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Cab45|"calcium_%20_binding_%20_protein"|1p36.33|2014-11-19|||||51150|ENSG00000078808|9254016_%2C__%20_8609160|NM_016176|863|EF-hand_%20_domain_%20_containing|CCDS12_%2C__%20_CCDS30553|OTTHUMG00000001812|51150|614282|NM_016176|Q9BRK5|ENSG00000078808|uc001adi.5|CAB45_HUMAN||B1AME5_%7C_B1AME6_%7C_B2RDF1_%7C_B4DSM1_%7C_Q53G52_%7C_Q53HQ9_%7C_Q8NBQ3_%7C_Q96AA1_%7C_Q9NZP7_%7C_Q9UN53|Q9BRK5|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_cerebellum_%20_development_%20_(GO:0021549)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_UV_%20_protection_%20_(GO:0009650)_%7C_zymogen_%20_granule_%20_exocytosis_%20_(GO:0070625)|cell_%20_projection_%20_(GO:0042995)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|SDF4:51150|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149492192|1152971|false|true|0|false|0|false|0.999347_%2C_0.000652517|false|true|false|SNV|true|0x050200800a05040426000100|1|false|134|rs149492192|] -chr1 1153047 exm1822 C T . PASS FUNCOTATION=[SDF4|hg19|chr1|1153047|1153047|MISSENSE||SNP|C|C|T|g.chr1:1153047C>T|ENST00000360001.6|-|7|1197|c.934G>A|c.(934-936)Gag>Aag|p.E312K|0.6633416458852868|GCGTTGTACTCGTTCATGGGG|SDF4_ENST00000263741.7_THREE_PRIME_UTR/TNFRSF4_ENST00000379236.3_FIVE_PRIME_FLANK/TNFRSF4_ENST00000453580.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||L79912|||HGNC:24188|stromal_%20_cell_%20_derived_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Cab45|"calcium_%20_binding_%20_protein"|1p36.33|2014-11-19|||||51150|ENSG00000078808|9254016_%2C__%20_8609160|NM_016176|863|EF-hand_%20_domain_%20_containing|CCDS12_%2C__%20_CCDS30553|OTTHUMG00000001812|51150|614282|NM_016176|Q9BRK5|ENSG00000078808|uc001adi.5|CAB45_HUMAN||B1AME5_%7C_B1AME6_%7C_B2RDF1_%7C_B4DSM1_%7C_Q53G52_%7C_Q53HQ9_%7C_Q8NBQ3_%7C_Q96AA1_%7C_Q9NZP7_%7C_Q9UN53|Q9BRK5|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_cerebellum_%20_development_%20_(GO:0021549)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_UV_%20_protection_%20_(GO:0009650)_%7C_zymogen_%20_granule_%20_exocytosis_%20_(GO:0070625)|cell_%20_projection_%20_(GO:0042995)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||true|false||false|false|||false|false|false|SDF4:51150|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201770843|1153047|false|true|0|false|0|false|0.999794_%2C_0.000206058|false|true|false|SNV|true|0x050200800a05040402000100|1|false|137|rs201770843|] -chr1 1178848 exm1965 G A . PASS FUNCOTATION=[FAM132A|hg19|chr1|1178848|1178848|NONSENSE||SNP|G|G|A|g.chr1:1178848G>A|ENST00000330388.2|-|5|648|c.616C>T|c.(616-618)Cag>Tag|p.Q206*|0.71571072319202|GCAGAGAACTGGAAGATGCCG||||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC089443|NM_001014980.2|NP_001014980.1||||||||||||||||||||||||||||||ADIPL_HUMAN||Q5EBL5|Q5T7M4|negative_%20_regulation_%20_of_%20_gluconeogenesis_%20_(GO:0045721)_%7C_negative_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050728)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_secretion_%20_involved_%20_in_%20_cellular_%20_response_%20_to_%20_glucose_%20_stimulus_%20_(GO:0035774)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051897)_%7C_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046324)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|hormone_%20_activity_%20_(GO:0005179)||||true|false|0.9968_%2C_0.003195|false|false|1||false|false|false|FAM132A:388581|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|115005664|1178848|false|false|0|false|0|false|0.993474_%2C_0.00652562|false|false|false|SNV|true|0x050000000605040436000100|1|false|132|rs115005664|] -chr1 1179619 exm1987 C A . PASS FUNCOTATION=[FAM132A|hg19|chr1|1179619|1179619|NONSENSE||SNP|C|C|A|g.chr1:1179619C>A|ENST00000330388.2|-|3|363|c.331G>T|c.(331-333)Gaa>Taa|p.E111*|0.6982543640897756|GCGGTCACTTCTGCACCTGGA||||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC089443|NM_001014980.2|NP_001014980.1||||||||||||||||||||||||||||||ADIPL_HUMAN||Q5EBL5|Q5T7M4|negative_%20_regulation_%20_of_%20_gluconeogenesis_%20_(GO:0045721)_%7C_negative_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050728)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_secretion_%20_involved_%20_in_%20_cellular_%20_response_%20_to_%20_glucose_%20_stimulus_%20_(GO:0035774)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051897)_%7C_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046324)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|hormone_%20_activity_%20_(GO:0005179)||||true|false||false|false|||false|false|false|FAM132A:388581|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|201741650|1179619|false|false|0|false|0|false|0.999966_%2C_3.43454e-005|false|false|false|SNV|true|0x050000000605040402000100|1|false|137|rs201741650|] -chr1 1211292 exm-rs6685064 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1211292|1211292|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:1211292C>T|ENST00000338555.2|+||||||0.44389027431421446|ATGTTATAGGCAGATTCAAAA|UBE2J2_ENST00000347370.2_FIVE_PRIME_FLANK/UBE2J2_ENST00000348298.7_FIVE_PRIME_FLANK/UBE2J2_ENST00000349431.6_FIVE_PRIME_FLANK/UBE2J2_ENST00000360466.2_FIVE_PRIME_FLANK/SCNN1D_ENST00000379116.5_FIVE_PRIME_FLANK/UBE2J2_ENST00000400929.2_FIVE_PRIME_FLANK/UBE2J2_ENST00000400930.4_FIVE_PRIME_FLANK/RP5-902P8.10_ENST00000453732.1_LINCRNA/UBE2J2_ENST00000491779.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U38254|||HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.5695_%2C_0.4305|false|false|1||false|true|false|LOC101928895:101928895|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6685064|1211292|false|false|0|true|0|false|0.693592_%2C_0.306408|false|false|false|SNV|true|0x05010008000515053f000100|1|false|116|rs6685064|] -chr1 1216848 exm2059 G A . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1216848|1216848|SILENT||SNP|G|G|A|g.chr1:1216848G>A|ENST00000379116.5|+|3|361|c.135G>A|c.(133-135)tcG>tcA|p.S45S|0.6633416458852868|AGCTGGGTTCGCCCCACCCCA|SCNN1D_ENST00000338555.2_FIVE_PRIME_UTR/SCNN1D_ENST00000325425.8_FIVE_PRIME_FLANK/SCNN1D_ENST00000400928.3_FIVE_PRIME_FLANK/SCNN1D_ENST00000467651.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.9928_%2C_0.007188|false|false|1||false|false|false|SCNN1D:6339|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|34385715|1216848|true|false|0|true|0|true|0.9932_%2C_0.00679992|false|false|false|SNV|true|0x050100000305040536000100|1|false|126|rs34385715|] -chr1 1219382 exm2062 C G . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1219382|1219382|MISSENSE||SNP|C|C|G|g.chr1:1219382C>G|ENST00000379116.5|+|5|602|c.376C>G|c.(376-378)Cag>Gag|p.Q126E|0.6758104738154613|CATCCTGCTTCAGAGCTGCCA|SCNN1D_ENST00000325425.8_MISSENSE_p.Q28E/SCNN1D_ENST00000338555.2_FIVE_PRIME_UTR/SCNN1D_ENST00000400928.3_FIVE_PRIME_UTR/SCNN1D_ENST00000467651.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.9798_%2C_0.01518_%2C_0.004992|false|false|1||false|false|false|SCNN1D:6339|false|true|false|true|true|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|114582555|1219382|false|false|0|true|0|false|0.975338_%2C_0.0246617_%2C_.|false|false|false|SNV|true|0x050100000e05140436000100|1|false|132|rs114582555|] -chr1 1219401 exm2063 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1219401|1219401|MISSENSE||SNP|C|C|T|g.chr1:1219401C>T|ENST00000379116.5|+|5|621|c.395C>T|c.(394-396)cCg>cTg|p.P132L|0.6733167082294265|CAGCTGCCCCCGCAATGGCTG|SCNN1D_ENST00000325425.8_MISSENSE_p.P34L/SCNN1D_ENST00000338555.2_FIVE_PRIME_UTR/SCNN1D_ENST00000400928.3_FIVE_PRIME_UTR/SCNN1D_ENST00000467651.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|SCNN1D:6339|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201680784|1219401|false|false|0|false|0|false|0.999176_%2C_0.000824346|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs201680784|] -chr1 1222519 exm2129 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1222519|1222519|NONSENSE||SNP|C|C|T|g.chr1:1222519C>T|ENST00000379116.5|+|9|1376|c.1150C>T|c.(1150-1152)Cga>Tga|p.R384*|0.6807980049875312|CTGCTTTTACCGAGGCTACAC|SCNN1D_ENST00000338555.2_NONSENSE_p.R220*/SCNN1D_ENST00000325425.8_NONSENSE_p.R286*/SCNN1D_ENST00000400928.3_NONSENSE_p.R220*|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|SCNN1D:6339|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|148588796|1222519|false|true|0|true|0|false|0.998661_%2C_0.00133938|false|false|false|SNV|true|0x050300000605040436000100|1|false|134|rs148588796|] -chr1 1227897 rs3737721 A G . PASS FUNCOTATION=[ACAP3|hg19|chr1|1227897|1227897|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:1227897A>G|ENST00000354700.5|-|24|||||0.655860349127182|CTTCAGGGTCACAGGCAGCAG|ACAP3_ENST00000353662.3_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_030649.2|NP_085152.2|HGNC:16754|ArfGAP_%20_with_%20_coiled-coil_%2C__%20_ankyrin_%20_repeat_%20_and_%20_PH_%20_domains_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CENTB5|"centaurin_%2C__%20_beta_%20_5"|KIAA1716||1p36.33|2016-10-05|2008-09-22|2008-09-22|AF411981||116983|ENSG00000131584||NM_030649|403_%7C_682_%7C_395_%7C_1291|Ankyrin_%20_repeat_%20_domain_%20_containing_%7C_Pleckstrin_%20_homology_%20_domain_%20_containing_%7C_ArfGAPs_%7C_BAR-PH_%20_domain_%20_containing|CCDS19|OTTHUMG00000002235|116983||NM_030649|Q96P50|ENSG00000131584|uc001aeb.3|ACAP3_HUMAN||B1AMF5_%7C_Q5TA42_%7C_Q5TA43_%7C_Q86UT3_%7C_Q9BSR9_%7C_Q9C0E7|Q96P50|regulation_%20_of_%20_ARF_%20_GTPase_%20_activity_%20_(GO:0032312)||ARF_%20_GTPase_%20_activator_%20_activity_%20_(GO:0008060)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.772_%2C_0.228|false|false|1||false|true|false|SCNN1D:6339_%7C_ACAP3:116983|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3737721|1227897|true|false|0|true|0|false|0.918916_%2C_0.0810839|false|true|false|SNV|true|0x05010088000515053f000100|1|false|107|rs3737721|] -chr1 1249193 indel.166 C CGCAA . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1249193|1249194|FRAME_SHIFT_INS||INS|-|-|GCAA|g.chr1:1249193_1249194insGCAA|ENST00000435064.1|-|9|959|c.875_876insTTGC|c.(874-876)aagfs|p.K292fs|0.6325|CACGAAAGTCTTGCGGATCT|CPSF3L_ENST00000421495.2_FRAME_SHIFT_INS_p.K34fs/CPSF3L_ENST00000450926.2_FRAME_SHIFT_INS_p.K270fs/CPSF3L_ENST00000411962.1_FRAME_SHIFT_INS_p.K194fs/CPSF3L_ENST00000419704.1_FRAME_SHIFT_INS_p.K191fs/CPSF3L_ENST00000540437.1_FRAME_SHIFT_INS_p.K298fs/CPSF3L_ENST00000545578.1_FRAME_SHIFT_INS_p.K263fs/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|true|752230074|1249193|false|false|0|false|0|false||false|false|false|DIV|false|0x050000021205000402000200|1|false|144|rs752230074|] -chr1 1250794 variant.168 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1250794|1250794|NONSENSE||SNP|G|G|A|g.chr1:1250794G>A|ENST00000435064.1|-|6|636|c.553C>T|c.(553-555)Cga>Tga|p.R185*|0.6084788029925187|CCTAAGTGTCGGTCTGGGGTC|CPSF3L_ENST00000450926.2_NONSENSE_p.R163*/CPSF3L_ENST00000411962.1_NONSENSE_p.R87*/CPSF3L_ENST00000419704.1_NONSENSE_p.R84*/CPSF3L_ENST00000421495.2_FIVE_PRIME_UTR/CPSF3L_ENST00000540437.1_NONSENSE_p.R191*/CPSF3L_ENST00000545578.1_NONSENSE_p.R156*/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|false|false|false|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|373723769|1250794|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000e05040402000100|1|false|138|rs373723769|] -chr1 1254678 exm2656 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1254678|1254678|NONSENSE||SNP|G|G|A|g.chr1:1254678G>A|ENST00000435064.1|-|4|510|c.427C>T|c.(427-429)Cag>Tag|p.Q143*|0.628428927680798|AACCTGACCTGGACCGTCTGG|CPSF3L_ENST00000450926.2_NONSENSE_p.Q143*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.Q149*/CPSF3L_ENST00000545578.1_NONSENSE_p.Q114*/RP5-890O3.9_ENST00000444968.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|200207309|1254678|false|true|0|false|0|false||false|false|false|SNV|false|0x0502000a0605000402000100|1|false|137|rs200207309|] -chr1 1256453 exm2676 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1256453|1256453|NONSENSE||SNP|G|G|A|g.chr1:1256453G>A|ENST00000435064.1|-|2|132|c.49C>T|c.(49-51)Cga>Tga|p.R17*|0.6458852867830424|ATGCAGCTTCGGCCCACGTCC|CPSF3L_ENST00000450926.2_NONSENSE_p.R17*/CPSF3L_ENST00000419704.1_NONSENSE_p.R17*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.R23*/CPSF3L_ENST00000545578.1_FIVE_PRIME_UTR/GLTPD1_ENST00000343938.4_FIVE_PRIME_FLANK/RP5-890O3.9_ENST00000444968.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK/GLTPD1_ENST00000464957.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|CPSF3L:54973|false|true|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|200498230|1256453|false|true|0|false|0|false|0.999897_%2C_0.000103029|false|false|true|SNV|true|0x050200480605040436000100|1|false|137|rs200498230|] -chr1 1366830 rs873927 A G . PASS FUNCOTATION=[VWA1|hg19|chr1|1366830|1366830|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:1366830A>G|ENST00000338660.5|+||||||0.6633416458852868|CCACTTCAGGACCCTGGGTCC|VWA1_ENST00000404702.3_FIVE_PRIME_FLANK/VWA1_ENST00000476993.1_FIVE_PRIME_FLANK/RP4-758J18.10_ENST00000417917.1_LINCRNA|||||||||||||||||||||||||22|breast(11)_%7C_large_intestine(11)|||||||CH471183|||HGNC:30910|von_%20_Willebrand_%20_factor_%20_A_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ22215_%2C__%20_VWA-1_%2C__%20_WARP||1p36.33|2016-04-25|||BC059409||64856|ENSG00000179403|14527666_%2C__%20_12062410|NM_022834|555|Fibronectin_%20_type_%20_III_%20_domain_%20_containing|CCDS27_%2C__%20_CCDS28|OTTHUMG00000002975|64856|611901|NM_022834|Q6PCB0|ENSG00000179403|uc001afs.4|VWA1_HUMAN||A8K692_%7C_B3KUA1_%7C_E9PB53_%7C_Q7L5D7_%7C_Q9H6J5|Q6PCB0|behavioral_%20_response_%20_to_%20_pain_%20_(GO:0048266)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)|basement_%20_membrane_%20_(GO:0005604)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_interstitial_%20_matrix_%20_(GO:0005614)|||||true|false|0.3157_%2C_0.6843|false|false|1||false|true|false|LOC102724312:102724312|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|873927|1366830|true|false|0|true|0|false|0.497733_%2C_0.502267|false|false|false|SNV|true|0x050100080005150537000100|1|false|92|rs873927|] -chr1 1550992 exm3957 C A . PASS FUNCOTATION=[MIB2|hg19|chr1|1550992|1550992|NONSENSE||SNP|C|C|A|g.chr1:1550992C>A|ENST00000505820.2|+|1|170|c.153C>A|c.(151-153)tgC>tgA|p.C51*|0.7630922693266833|TGGCGCGATGCGGGCCGTCCT|MIB2_ENST00000520777.1_NONSENSE_p.C51*/MIB2_ENST00000355826.5_NONSENSE_p.C51*/MIB2_ENST00000518681.1_NONSENSE_p.C51*/MIB2_ENST00000357210.4_FIVE_PRIME_UTR/MIB2_ENST00000360522.4_FIVE_PRIME_UTR/MIB2_ENST00000378710.3_FIVE_PRIME_UTR/MIB2_ENST00000378708.1_FIVE_PRIME_FLANK/MIB2_ENST00000378712.1_FIVE_PRIME_FLANK/MIB2_ENST00000504599.1_FIVE_PRIME_FLANK/RP11-345P4.9_ENST00000607222.1_RNA|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC037542|||HGNC:30577|mindbomb_%20_E3_%20_ubiquitin_%20_protein_%20_ligase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZZANK1|"zinc_%20_finger_%2C__%20_ZZ_%20_type_%20_with_%20_ankyrin_%20_repeat_%20_domain_%20_1"_%2C__%20_"mindbomb_%20_homolog_%20_2_%20_(Drosophila)"|skeletrophin_%2C__%20_ZZZ5_%2C__%20_FLJ39787||1p36.33|2016-04-25|2005-04-01|2012-02-23|AK097106||142678|ENSG00000197530|12761501|NM_080875|91_%7C_403|Zinc_%20_fingers_%20_ZZ-type_%7C_Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS41224_%2C__%20_CCDS53261_%2C__%20_CCDS53262_%2C__%20_CCDS53263_%2C__%20_CCDS53264|OTTHUMG00000074647|142678|611141|NM_001170686|Q96AX9|ENSG00000197530|uc001agg.4|MIB2_HUMAN||A2AGM5_%7C_A2AGM6_%7C_B3KV93_%7C_B3KVF4_%7C_B3KXY1_%7C_B4DZ57_%7C_E9PGU1_%7C_E9PHQ1_%7C_F8WA73_%7C_J3KNZ7_%7C_Q7Z437_%7C_Q8IY62_%7C_Q8N786_%7C_Q8N897_%7C_Q8N8R2_%7C_Q8N911_%7C_Q8NB36_%7C_Q8NCY1_%7C_Q8NG59_%7C_Q8NG60_%7C_Q8NG61_%7C_Q8NI59_%7C_Q8WYN1|Q96AX9|Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)|early_%20_endosome_%20_(GO:0005769)_%7C_ubiquitin_%20_ligase_%20_complex_%20_(GO:0000151)|ligase_%20_activity_%20_(GO:0016874)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false||false|false|||false|false|false|MIB2:142678|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|199741261|1550992|false|false|0|true|0|false|0.998798_%2C_0.00120201|false|false|false|SNV|true|0x050100020605040402000100|1|false|137|rs199741261|] -chr1 1551927 exm3962 T C . PASS FUNCOTATION=[MIB2|hg19|chr1|1551927|1551927|MISSENSE||SNP|T|T|C|g.chr1:1551927T>C|ENST00000505820.2|+|2|231|c.214T>C|c.(214-216)Ttc>Ctc|p.F72L|0.6708229426433915|GTCCCAAAGTTTCCAGGCATC|MIB2_ENST00000520777.1_MISSENSE_p.F72L/MIB2_ENST00000355826.5_MISSENSE_p.F72L/MIB2_ENST00000504599.1_FIVE_PRIME_UTR/MIB2_ENST00000518681.1_MISSENSE_p.F72L/MIB2_ENST00000378712.1_FIVE_PRIME_UTR/MIB2_ENST00000357210.4_MISSENSE_p.F15L/MIB2_ENST00000360522.4_MISSENSE_p.F15L/MIB2_ENST00000378710.3_MISSENSE_p.F15L/MIB2_ENST00000378708.1_FIVE_PRIME_FLANK/RP11-345P4.9_ENST00000607222.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC037542|||HGNC:30577|mindbomb_%20_E3_%20_ubiquitin_%20_protein_%20_ligase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZZANK1|"zinc_%20_finger_%2C__%20_ZZ_%20_type_%20_with_%20_ankyrin_%20_repeat_%20_domain_%20_1"_%2C__%20_"mindbomb_%20_homolog_%20_2_%20_(Drosophila)"|skeletrophin_%2C__%20_ZZZ5_%2C__%20_FLJ39787||1p36.33|2016-04-25|2005-04-01|2012-02-23|AK097106||142678|ENSG00000197530|12761501|NM_080875|91_%7C_403|Zinc_%20_fingers_%20_ZZ-type_%7C_Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS41224_%2C__%20_CCDS53261_%2C__%20_CCDS53262_%2C__%20_CCDS53263_%2C__%20_CCDS53264|OTTHUMG00000074647|142678|611141|NM_001170686|Q96AX9|ENSG00000197530|uc001agg.4|MIB2_HUMAN||A2AGM5_%7C_A2AGM6_%7C_B3KV93_%7C_B3KVF4_%7C_B3KXY1_%7C_B4DZ57_%7C_E9PGU1_%7C_E9PHQ1_%7C_F8WA73_%7C_J3KNZ7_%7C_Q7Z437_%7C_Q8IY62_%7C_Q8N786_%7C_Q8N897_%7C_Q8N8R2_%7C_Q8N911_%7C_Q8NB36_%7C_Q8NCY1_%7C_Q8NG59_%7C_Q8NG60_%7C_Q8NG61_%7C_Q8NI59_%7C_Q8WYN1|Q96AX9|Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)|early_%20_endosome_%20_(GO:0005769)_%7C_ubiquitin_%20_ligase_%20_complex_%20_(GO:0000151)|ligase_%20_activity_%20_(GO:0016874)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.523_%2C_0.477|false|false|1||false|true|true|MIB2:142678|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|7418389|1551927|true|false|0|true|0|false|0.374373_%2C_0.625627|false|false|true|SNV|true|0x050100400a0517053e000100|1|false|116|rs7418389|] -chr1 1551952 exm3966 G A . PASS FUNCOTATION=[MIB2|hg19|chr1|1551952|1551952|MISSENSE||SNP|G|G|A|g.chr1:1551952G>A|ENST00000505820.2|+|2|256|c.239G>A|c.(238-240)aGg>aAg|p.R80K|0.6633416458852868|CTGCAGCCCAGGAGCCTCAAG|MIB2_ENST00000520777.1_MISSENSE_p.R80K/MIB2_ENST00000355826.5_MISSENSE_p.R80K/MIB2_ENST00000504599.1_FIVE_PRIME_UTR/MIB2_ENST00000518681.1_MISSENSE_p.R80K/MIB2_ENST00000378712.1_FIVE_PRIME_UTR/MIB2_ENST00000357210.4_MISSENSE_p.R23K/MIB2_ENST00000360522.4_MISSENSE_p.R23K/MIB2_ENST00000378710.3_MISSENSE_p.R23K/MIB2_ENST00000378708.1_FIVE_PRIME_FLANK/RP11-345P4.9_ENST00000607222.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC037542|||HGNC:30577|mindbomb_%20_E3_%20_ubiquitin_%20_protein_%20_ligase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZZANK1|"zinc_%20_finger_%2C__%20_ZZ_%20_type_%20_with_%20_ankyrin_%20_repeat_%20_domain_%20_1"_%2C__%20_"mindbomb_%20_homolog_%20_2_%20_(Drosophila)"|skeletrophin_%2C__%20_ZZZ5_%2C__%20_FLJ39787||1p36.33|2016-04-25|2005-04-01|2012-02-23|AK097106||142678|ENSG00000197530|12761501|NM_080875|91_%7C_403|Zinc_%20_fingers_%20_ZZ-type_%7C_Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS41224_%2C__%20_CCDS53261_%2C__%20_CCDS53262_%2C__%20_CCDS53263_%2C__%20_CCDS53264|OTTHUMG00000074647|142678|611141|NM_001170686|Q96AX9|ENSG00000197530|uc001agg.4|MIB2_HUMAN||A2AGM5_%7C_A2AGM6_%7C_B3KV93_%7C_B3KVF4_%7C_B3KXY1_%7C_B4DZ57_%7C_E9PGU1_%7C_E9PHQ1_%7C_F8WA73_%7C_J3KNZ7_%7C_Q7Z437_%7C_Q8IY62_%7C_Q8N786_%7C_Q8N897_%7C_Q8N8R2_%7C_Q8N911_%7C_Q8NB36_%7C_Q8NCY1_%7C_Q8NG59_%7C_Q8NG60_%7C_Q8NG61_%7C_Q8NI59_%7C_Q8WYN1|Q96AX9|Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)|early_%20_endosome_%20_(GO:0005769)_%7C_ubiquitin_%20_ligase_%20_complex_%20_(GO:0000151)|ligase_%20_activity_%20_(GO:0016874)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.9982_%2C_0.001797|false|false|1||false|false|false|MIB2:142678|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199576573|1551952|false|false|0|false|0|false|0.997527_%2C_0.0024727|false|false|true|SNV|true|0x050000400a05040426000100|1|false|137|rs199576573|] -chr1 1558792 exm3973 T C . PASS FUNCOTATION=[MIB2|hg19|chr1|1558792|1558792|MISSENSE||SNP|T|T|C|g.chr1:1558792T>C|ENST00000505820.2|+|3|322|c.305T>C|c.(304-306)aTg>aCg|p.M102T|0.7281795511221946|CGGCCCACCATGGACCCCTCT|MIB2_ENST00000520777.1_MISSENSE_p.M102T/MIB2_ENST00000504599.1_START_CODON_SNP_p.M1T/MIB2_ENST00000355826.5_INTRON/MIB2_ENST00000378708.1_INTRON/MIB2_ENST00000518681.1_MISSENSE_p.M102T/MIB2_ENST00000378712.1_INTRON/MIB2_ENST00000357210.4_MISSENSE_p.M45T/MIB2_ENST00000360522.4_MISSENSE_p.M45T/MIB2_ENST00000378710.3_MISSENSE_p.M45T/MIB2_ENST00000512004.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC037542|||HGNC:30577|mindbomb_%20_E3_%20_ubiquitin_%20_protein_%20_ligase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZZANK1|"zinc_%20_finger_%2C__%20_ZZ_%20_type_%20_with_%20_ankyrin_%20_repeat_%20_domain_%20_1"_%2C__%20_"mindbomb_%20_homolog_%20_2_%20_(Drosophila)"|skeletrophin_%2C__%20_ZZZ5_%2C__%20_FLJ39787||1p36.33|2016-04-25|2005-04-01|2012-02-23|AK097106||142678|ENSG00000197530|12761501|NM_080875|91_%7C_403|Zinc_%20_fingers_%20_ZZ-type_%7C_Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS41224_%2C__%20_CCDS53261_%2C__%20_CCDS53262_%2C__%20_CCDS53263_%2C__%20_CCDS53264|OTTHUMG00000074647|142678|611141|NM_001170686|Q96AX9|ENSG00000197530|uc001agg.4|MIB2_HUMAN||A2AGM5_%7C_A2AGM6_%7C_B3KV93_%7C_B3KVF4_%7C_B3KXY1_%7C_B4DZ57_%7C_E9PGU1_%7C_E9PHQ1_%7C_F8WA73_%7C_J3KNZ7_%7C_Q7Z437_%7C_Q8IY62_%7C_Q8N786_%7C_Q8N897_%7C_Q8N8R2_%7C_Q8N911_%7C_Q8NB36_%7C_Q8NCY1_%7C_Q8NG59_%7C_Q8NG60_%7C_Q8NG61_%7C_Q8NI59_%7C_Q8WYN1|Q96AX9|Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)|early_%20_endosome_%20_(GO:0005769)_%7C_ubiquitin_%20_ligase_%20_complex_%20_(GO:0000151)|ligase_%20_activity_%20_(GO:0016874)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.2264_%2C_0.7736_%2C_.|false|false|1||false|true|false|MIB2:142678|true|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|12755088|1558792|false|false|0|true|0|false||false|false|false|SNV|true|0x050100080a0515053e000100|1|false|121|rs12755088|] -chr1 1647785 indel.249 CT C . PASS FUNCOTATION=[CDK11A|hg19|chr1|1647786|1647786|SPLICE_SITE|FRAME_SHIFT_DEL|DEL|T|T|-|g.chr1:1647786delT|ENST00000358779.5|-|5|538|c.457delA|c.(457-459)aggfs|p.R153fs|0.48129675810473815|CCCACTCACCTTTCTCTCCTG|CDK11A_ENST00000356200.3_SPLICE_SITE_p.R129fs/CDK11A_ENST00000378633.1_SPLICE_SITE_p.R153fs/CDK11A_ENST00000404249.3_SPLICE_SITE_p.R163fs/CDK11A_ENST00000357760.2_SPLICE_SITE_p.R153fs/CDK11A_ENST00000378638.2_SPLICE_SITE_p.R129fs/CDK11A_ENST00000378635.3_SPLICE_SITE_p.S153fs/RP1-283E3.8_ENST00000598846.1_SPLICE_SITE|Pancreas(186_%3B_965_%20_2119_%20_30274_%20_40311_%20_50569)||||||||||||||||||||||||15|oesophagus(1)_%7C_stomach(14)|||||||U07705|NM_033529.2|NP_277071.2|HGNC:1730|cyclin_%20_dependent_%20_kinase_%20_11A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CDC2L3_%2C__%20_CDC2L2|"cell_%20_division_%20_cycle_%20_2-like_%20_2"_%2C__%20_"cell_%20_division_%20_cycle_%20_2-like_%20_2_%20_(PITSLRE_%20_proteins)"|PITSLRE_%2C__%20_CDK11-p110_%2C__%20_CDK11-p58_%2C__%20_CDK11-p46_%2C__%20_p58GTA||1p36.33|2016-06-08|2009-12-16|2016-06-08|AF067522||728642|ENSG00000008128|7920654_%2C__%20_9750192_%2C__%20_19884882|NM_024011|496|Cyclin_%20_dependent_%20_kinases|CCDS44042_%2C__%20_CCDS44043_%2C__%20_CCDS81253_%2C__%20_CCDS81254|OTTHUMG00000000703|728642|116951|NM_001313896|Q9UQ88|ENSG00000008128|uc009vks.4|CD11A_HUMAN||O95227_%7C_O95228_%7C_O96012_%7C_Q12821_%7C_Q12853_%7C_Q12854_%7C_Q2TAJ0_%7C_Q5QPR0_%7C_Q5QPR1_%7C_Q5QPR2_%7C_Q9UBC4_%7C_Q9UBI3_%7C_Q9UEI1_%7C_Q9UEI2_%7C_Q9UP53_%7C_Q9UP54_%7C_Q9UP55_%7C_Q9UP56_%7C_Q9UQ86_%7C_Q9UQ87_%7C_Q9UQ89|Q9UQ88|apoptotic_%20_process_%20_(GO:0006915)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0001558)_%7C_regulation_%20_of_%20_mRNA_%20_processing_%20_(GO:0050684)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004693)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||true|false||false|false|||false|false|false|CDK11A:728642|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|748188287|1647786|false|false|0|false|0|false||false|false|true|DIV|false|0x050000401205000402000200|1|false|144|rs748188287|] -chr1 2146966 rs7512482 T C . PASS FUNCOTATION=[AL590822.1|hg19|chr1|2146966|2146966|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:2146966T>C|ENST00000545087.1|-||||||0.6758104738154613|AGGACCTGCGTGAAGGAGCCC|RP11-181G12.4_ENST00000442483.2_LINCRNA/RP11-181G12.5_ENST00000420964.1_FIVE_PRIME_FLANK/C1orf86_ENST00000487186.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||AL590822||||||||||||||||||||||||||||||||||||||||||true|false|0.7963_%2C_0.2037|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7512482|2146966|false|false|0|true|0|false|0.761969_%2C_0.238031|false|false|false|SNV|true|0x05010000000517053f000100|1|false|116|rs7512482|] -chr1 2327075 rs3736330 C T . PASS FUNCOTATION=[RER1|hg19|chr1|2327075|2327075|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:2327075C>T|ENST00000488353.1|+|1|||||0.5211970074812967|TACTTTTTCCCGAACAATTCA|RER1_ENST00000605895.1_INTRON/RER1_ENST00000378512.1_INTRON/RER1_ENST00000378518.1_INTRON/RER1_ENST00000378513.3_INTRON/MORN1_ENST00000378529.3_FIVE_PRIME_FLANK/MORN1_ENST00000378531.3_FIVE_PRIME_FLANK/MORN1_ENST00000606372.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|||HGNC:30309|retention_%20_in_%20_endoplasmic_%20_reticulum_%20_sorting_%20_receptor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"RER1_%20_retention_%20_in_%20_endoplasmic_%20_reticulum_%20_1_%20_homolog_%20_(S._%20_cerevisiae)"|||1p36.32|2016-10-05||2013-10-18|AF157324||11079|ENSG00000157916|9309388_%2C__%20_17668005||||CCDS41232|OTTHUMG00000001403|11079||NM_007033|O15258|ENSG00000157916|uc001aje.3|RER1_HUMAN||O95322|O15258|positive_%20_regulation_%20_of_%20_establishment_%20_of_%20_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0090004)_%7C_retrograde_%20_vesicle-mediated_%20_transport_%2C__%20_Golgi_%20_to_%20_ER_%20_(GO:0006890)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)|cell_%20_surface_%20_(GO:0009986)_%7C_endoplasmic_%20_reticulum-Golgi_%20_intermediate_%20_compartment_%20_(GO:0005793)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_Golgi_%20_membrane_%20_(GO:0030173)|||||true|false|0.7638_%2C_0.2362|false|false|1||false|true|false|RER1:11079|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3736330|2327075|false|false|0|true|0|false|0.789718_%2C_0.210282|false|false|false|SNV|true|0x050100080005150537000100|1|false|107|rs3736330|] -chr1 2408058 exm5658 C T . PASS FUNCOTATION=[PLCH2|hg19|chr1|2408058|2408058|MISSENSE||SNP|C|C|T|g.chr1:2408058C>T|ENST00000419816.2|+|1|305|c.31C>T|c.(31-33)Cgg>Tgg|p.R11W|0.6907730673316709|CCCCGACAGCCGGACCAAGGG|PLCH2_ENST00000449969.1_INTRON/PLCH2_ENST00000378486.3_MISSENSE_p.R11W/PLCH2_ENST00000378488.3_MISSENSE_p.R11W/PLCH2_ENST00000288766.5_FIVE_PRIME_UTR|||||||||||||||||||||||||228|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(46)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_skin(43)|||||||DQ176850|||HGNC:29037|phospholipase_%20_C_%20_eta_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PLCL4|"phospholipase_%20_C-like_%20_4"_%2C__%20_"phospholipase_%20_C_%2C__%20_eta_%20_2"|KIAA0450_%2C__%20_PLCeta2_%2C__%20_RP3-395M20.1_%2C__%20_PLC-eta2|"1-phosphatidylinositol_%20_4_%2C_5-bisphosphate_%20_phosphodiesterase_%20_eta-2"|1p36.32|2015-11-17|2006-03-16|2015-11-17|AB007919|3.1.4.11|9651|ENSG00000149527|15899900|NM_014638|467_%7C_863|Phospholipases_%7C_EF-hand_%20_domain_%20_containing|CCDS59959|OTTHUMG00000000719|9651|612836|NM_001303012|O75038|ENSG00000149527|uc057bmp.1|PLCH2_HUMAN||A2VCM3_%7C_B9DI80_%7C_Q3LUA8_%7C_Q86XJ2_%7C_Q86XU1_%7C_Q86YU7_%7C_Q8TEH5_%7C_Q8WUS6|O75038|inositol_%20_phosphate_%20_metabolic_%20_process_%20_(GO:0043647)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_lipid_%20_catabolic_%20_process_%20_(GO:0016042)_%7C_phosphatidylinositol_%20_metabolic_%20_process_%20_(GO:0046488)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytoplasm_%20_(GO:0005737)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_phosphatidylinositol_%20_phospholipase_%20_C_%20_activity_%20_(GO:0004435)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false||false|false|||false|false|false|PLCH2:9651|false|true|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199848920|2408058|false|false|0|false|0|false||false|false|true|SNV|true|0x050000480a05040402000100|1|false|137|rs199848920|] -chr1 2450733 indel.338 AG A . PASS FUNCOTATION=[PANK4|hg19|chr1|2450734|2450734|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:2450734delG|ENST00000378466.3|-|7|897|c.883delC|c.(883-885)ctgfs|p.L295fs|0.6059850374064838|ATGTGCAGCAGGCTCTTCGCC|PANK4_ENST00000435556.3_FRAME_SHIFT_DEL_p.L256fs|||||||||||||||||||||||||276|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(22)_%7C_large_intestine(37)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_upper_aerodigestive_tract(121)|||||||CH471183|NM_018216.1|NP_060686.1|HGNC:19366|pantothenate_%20_kinase_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10782||1p36.32|2015-08-25|||AK001644||55229|ENSG00000157881|11479594||||CCDS42|OTTHUMG00000000791|55229|606162|NM_018216|Q9NVE7|ENSG00000157881|uc001ajm.3|PANK4_HUMAN||B9DI84_%7C_Q53EU3_%7C_Q5TA84_%7C_Q7RTX3_%7C_Q9H3X5|Q9NVE7|coenzyme_%20_A_%20_biosynthetic_%20_process_%20_(GO:0015937)|cytoplasm_%20_(GO:0005737)|ATP_%20_binding_%20_(GO:0005524)_%7C_pantothenate_%20_kinase_%20_activity_%20_(GO:0004594)||||true|false||false|false|||false|false|false|PANK4:55229|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|764053138|2450734|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs764053138|] -chr1 2564465 kgp10938344 T C . PASS FUNCOTATION=[MMEL1|hg19|chr1|2564465|2564465|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:2564465T>C|ENST00000288709.6|-|1|||||0.6458852867830424|TGAAGGCTTCTGGGCCTCCTT|MMEL1_ENST00000378412.3_FIVE_PRIME_FLANK/MMEL1_ENST00000502556.1_FIVE_PRIME_FLANK/RP13-436F16.1_ENST00000427302.1_RNA/MMEL1_ENST00000511099.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_033467.3|NP_258428.2|HGNC:14668|membrane_%20_metalloendopeptidase_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MMEL2|"membrane_%20_metallo-endopeptidase-like_%20_2"|SEP_%2C__%20_NL1_%2C__%20_NL2_%2C__%20_NEPII||1p36.32|2016-10-05||2016-08-10|AF336981||79258|ENSG00000142606||NM_033467|1439|M13_%20_metallopeptidases|CCDS30569|OTTHUMG00000000846|79258||NM_033467|Q495T6|ENSG00000142606|uc001ajy.3|MMEL1_HUMAN||B9DI79_%7C_Q495T7_%7C_Q495T8_%7C_Q5SZS6_%7C_Q96PH9|Q495T6||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.4824_%2C_0.5176|false|false|1||false|true|true|MMEL1:79258|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|12752515|2564465|false|false|0|true|0|false|0.403943_%2C_0.596057|false|false|true|SNV|true|0x050100400a0517053e000100|1|false|121|rs12752515|] -chr1 3542385 indel.400 GA G . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3542386|3542386|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:3542386delA|ENST00000378344.2|+|3|473|c.403delA|c.(403-405)atafs|p.I135fs|0.5486284289276808|GGTGGTGCGGATAGCGCTCAA|TPRG1L_ENST00000344579.5_INTRON/RP11-46F15.2_ENST00000435049.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC019034|NM_182752.3|NP_877429.2|HGNC:27007|tumor_%20_protein_%20_p63_%20_regulated_%20_1_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FAM79A|"family_%20_with_%20_sequence_%20_similarity_%20_79_%2C__%20_member_%20_A"|RP11-46F15.3_%2C__%20_FLJ21811||1p36.32|2016-07-27|2008-01-16|2016-07-27|BC019034||127262|ENSG00000158109|12477932|NM_182752|||CCDS47|OTTHUMG00000000609|127262|611460|NM_182752|Q5T0D9|ENSG00000158109|uc001akm.4|TPRGL_HUMAN||A8K1K4_%7C_Q8WV04|Q5T0D9||cell_%20_junction_%20_(GO:0030054)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_synaptic_%20_vesicle_%20_(GO:0008021)|||||true|false||false|false|||false|false|false|TPRG1L:127262|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|749859577|3542386|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|144|rs749859577|] -chr1 3789041 indel.451 CT C . PASS FUNCOTATION=[DFFB|hg19|chr1|3789042|3789042|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:3789042delT|ENST00000378209.3|+|6|1010|c.688delT|c.(688-690)tttfs|p.F230fs|0.5885286783042394|CCAGGGTCCCTTTGACATGGA|DFFB_ENST00000338895.3_FRAME_SHIFT_DEL_p.F230fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC048797|NM_004402.2|NP_004393.1|HGNC:2773|DNA_%20_fragmentation_%20_factor_%20_subunit_%20_beta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DNA_%20_fragmentation_%20_factor_%2C__%20_40kDa_%2C__%20_beta_%20_polypeptide_%20_(caspase-activated_%20_DNase)"|CAD_%2C__%20_CPAN_%2C__%20_DFF-40_%2C__%20_DFF40|"caspase-activated_%20_DNase"|1p36.32|2016-10-05||2016-02-03|||1677|ENSG00000169598|9108473_%2C__%20_9560346|NM_001282669|||CCDS52_%2C__%20_CCDS72693|OTTHUMG00000003525|1677|601883|NM_001282669|O76075|ENSG00000169598|uc001alc.5|DFFB_HUMAN||O60521_%7C_Q5SR22_%7C_Q9BYI4_%7C_Q9BYI5_%7C_Q9BYI6|O76075|apoptotic_%20_chromosome_%20_condensation_%20_(GO:0030263)_%7C_apoptotic_%20_DNA_%20_fragmentation_%20_(GO:0006309)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_cellular_%20_component_%20_disassembly_%20_involved_%20_in_%20_execution_%20_phase_%20_of_%20_apoptosis_%20_(GO:0006921)|cytosol_%20_(GO:0005829)_%7C_nuclear_%20_chromatin_%20_(GO:0000790)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|deoxyribonuclease_%20_activity_%20_(GO:0004536)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_enzyme_%20_binding_%20_(GO:0019899)||||true|false||false|false|||false|false|false|DFFB:1677|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|755710345|3789042|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs755710345|] -chr1 3800158 indel.452 TG T . PASS FUNCOTATION=[DFFB|hg19|chr1|3800159|3800159|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:3800159delG|ENST00000378209.3|+|7|1193|c.871delG|c.(871-873)ggcfs|p.G291fs|0.46384039900249374|GTATTTTTATGGCCTGCTTTT|AL691523.1_ENST00000579705.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC048797|NM_004402.2|NP_004393.1|HGNC:2773|DNA_%20_fragmentation_%20_factor_%20_subunit_%20_beta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DNA_%20_fragmentation_%20_factor_%2C__%20_40kDa_%2C__%20_beta_%20_polypeptide_%20_(caspase-activated_%20_DNase)"|CAD_%2C__%20_CPAN_%2C__%20_DFF-40_%2C__%20_DFF40|"caspase-activated_%20_DNase"|1p36.32|2016-10-05||2016-02-03|||1677|ENSG00000169598|9108473_%2C__%20_9560346|NM_001282669|||CCDS52_%2C__%20_CCDS72693|OTTHUMG00000003525|1677|601883|NM_001282669|O76075|ENSG00000169598|uc001alc.5|DFFB_HUMAN||O60521_%7C_Q5SR22_%7C_Q9BYI4_%7C_Q9BYI5_%7C_Q9BYI6|O76075|apoptotic_%20_chromosome_%20_condensation_%20_(GO:0030263)_%7C_apoptotic_%20_DNA_%20_fragmentation_%20_(GO:0006309)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_cellular_%20_component_%20_disassembly_%20_involved_%20_in_%20_execution_%20_phase_%20_of_%20_apoptosis_%20_(GO:0006921)|cytosol_%20_(GO:0005829)_%7C_nuclear_%20_chromatin_%20_(GO:0000790)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|deoxyribonuclease_%20_activity_%20_(GO:0004536)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_enzyme_%20_binding_%20_(GO:0019899)||||true|false||false|false|||false|false|false|DFFB:1677|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|777060714|3800159|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs777060714|] -chr1 3821782 rs11589102 G A . PASS FUNCOTATION=[C1orf174|hg19|chr1|3821782|3821782|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:3821782G>A|ENST00000361605.3|-||||||0.4688279301745636|CTAAACTAATGTTTTCTTAAT|RP13-15E13.1_ENST00000442673.1_LINCRNA/C1orf174_ENST00000486765.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471130|NM_207356.2|NP_997239.2|HGNC:27915|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_174|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||RP13-531C17.2||1p36.32|2017-07-11|||BC035643||339448|ENSG00000198912|12477932|NM_207356|||CCDS53|OTTHUMG00000003739|339448||NM_207356|Q8IYL3|ENSG00000198912|uc001alf.4|CA174_HUMAN||A8K0C8_%7C_A8MUG9_%7C_Q5SR20_%7C_Q6NX36|Q8IYL3||nucleus_%20_(GO:0005634)|||||true|false|0.8093_%2C_0.1907|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11589102|3821782|false|false|0|true|0|false|0.748643_%2C_0.251357|false|false|false|SNV|true|0x05010008000517053f000101|1|false|120|rs11589102|] -chr1 3822703 rs10909830 C T . PASS FUNCOTATION=[RP13-15E13.1|hg19|chr1|3822703|3822703|LINCRNA||SNP|C|C|T|g.chr1:3822703C>T|ENST00000442673.1|+|||c.e1+5508C>T|||0.5012468827930174|TTTTCACCGACGCAGGCCCGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7055_%2C_0.2945|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10909830|3822703|false|false|0|true|0|false|0.663061_%2C_0.336939|false|false|false|SNV|true|0x05010008000517053f000100|1|false|120|rs10909830|] -chr1 3823395 kgp9113347 C T . PASS FUNCOTATION=[RP13-15E13.1|hg19|chr1|3823395|3823395|LINCRNA||SNP|C|C|T|g.chr1:3823395C>T|ENST00000442673.1|+|||c.e1+6200C>T|||0.5411471321695761|TGCAGATCCACGTCTGCCTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8087_%2C_0.1913|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28973022|3823395|false|false|0|true|0|false|0.748918_%2C_0.251082|false|false|false|SNV|true|0x05010008000517053f000100|1|false|125|rs28973022|] -chr1 3825525 rs35383955 C T . PASS FUNCOTATION=[RP13-15E13.1|hg19|chr1|3825525|3825525|LINCRNA||SNP|C|C|T|g.chr1:3825525C>T|ENST00000442673.1|+|||c.e2-5434C>T|||0.600997506234414|GTGCCCCAAGCGGAGCTCTTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7456_%2C_0.2544|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|35383955|3825525|false|false|0|true|0|false||false|false|false|SNV|true|0x05010008000517053e000100|1|false|126|rs35383955|] -chr1 4002498 psy_rs7538691 T C . PASS FUNCOTATION=[RP13-614K11.1|hg19|chr1|4002498|4002498|LINCRNA||SNP|T|T|C|g.chr1:4002498T>C|ENST00000412674.1|+|||c.e2+1295T>C|||0.456359102244389|ATCCACATGCTGAAGTCCTTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4375_%2C_0.5625|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7538691|4002498|false|false|0|true|0|false|0.405969_%2C_0.594031|false|false|false|SNV|true|0x05010008000517053f000100|1|false|116|rs7538691|] -chr1 6550505 exm2233725 C T . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6550505|6550505|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:6550505C>T|ENST00000340850.5|-|1|||||0.6633416458852868|CGCGACTCACCTAGGAACAGG|PLEKHG5_ENST00000377725.1_FIVE_PRIME_UTR/PLEKHG5_ENST00000377748.1_INTRON/PLEKHG5_ENST00000377732.1_INTRON/PLEKHG5_ENST00000400915.3_INTRON/PLEKHG5_ENST00000377728.3_INTRON/PLEKHG5_ENST00000377740.3_INTRON/PLEKHG5_ENST00000544978.1_INTRON/PLEKHG5_ENST00000537245.1_INTRON/PLEKHG5_ENST00000377737.2_INTRON/PLEKHG5_ENST00000400913.1_FIVE_PRIME_FLANK/PLEKHG5_ENST00000535355.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||304|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_stomach(121)|||||||CH471130|NM_001265594.1|NP_001252523.1|HGNC:29105|pleckstrin_%20_homology_%20_and_%20_RhoGEF_%20_domain_%20_containing_%20_G5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_G_%20_(with_%20_RhoGef_%20_domain)_%20_member_%20_5"|KIAA0720_%2C__%20_Syx_%2C__%20_GEF720_%2C__%20_Tech|"synectin-binding_%20_guanine_%20_exchange_%20_factor"|1p36.31|2017-03-24|2005-08-09|2015-11-18|AK024676||57449|ENSG00000171680|17564964|NM_020631|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS79_%2C__%20_CCDS41240_%2C__%20_CCDS41241_%2C__%20_CCDS57967_%2C__%20_CCDS57968_%2C__%20_CCDS57969|OTTHUMG00000000905|57449|611101|NM_001042663|O94827|ENSG00000171680|uc001anm.3|PKHG5_HUMAN||B3KU07_%7C_B7Z2M3_%7C_B7Z5X2_%7C_F5GZ21_%7C_F5H1I0_%7C_Q5SY17_%7C_Q5T8W5_%7C_Q5T8W9_%7C_Q6ZNM0_%7C_Q7Z436_%7C_Q86YD8_%7C_Q96BS1|O94827|apoptotic_%20_signaling_%20_pathway_%20_(GO:0097190)_%7C_endothelial_%20_cell_%20_chemotaxis_%20_(GO:0035767)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endocytic_%20_vesicle_%20_(GO:0030139)_%7C_lamellipodium_%20_(GO:0030027)_%7C_plasma_%20_membrane_%20_(GO:0005886)|Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false|0.8051_%2C_0.1949|false|false|1||false|true|true|PLEKHG5:57449|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11806429|6550505|false|false|0|true|0|false|0.824748_%2C_0.175252|false|false|true|SNV|true|0x05010048000517053f000100|1|false|120|rs11806429|] -chr1 6556585 exm9669 G A . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6556585|6556585|MISSENSE||SNP|G|G|A|g.chr1:6556585G>A|ENST00000377748.1|-|2|610|c.112C>T|c.(112-114)Ccc>Tcc|p.P38S|0.6408977556109726|ATGCAGGCGGGGTTCTGACAG|PLEKHG5_ENST00000400915.3_MISSENSE_p.P17S/PLEKHG5_ENST00000377740.3_MISSENSE_p.P38S/PLEKHG5_ENST00000377732.1_FIVE_PRIME_UTR/PLEKHG5_ENST00000544978.1_FIVE_PRIME_UTR/PLEKHG5_ENST00000537245.1_MISSENSE_p.P40S/PLEKHG5_ENST00000377737.2_FIVE_PRIME_UTR/PLEKHG5_ENST00000377728.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||304|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_stomach(121)|||||||CH471130|NM_198681.3|NP_941374.2|HGNC:29105|pleckstrin_%20_homology_%20_and_%20_RhoGEF_%20_domain_%20_containing_%20_G5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_G_%20_(with_%20_RhoGef_%20_domain)_%20_member_%20_5"|KIAA0720_%2C__%20_Syx_%2C__%20_GEF720_%2C__%20_Tech|"synectin-binding_%20_guanine_%20_exchange_%20_factor"|1p36.31|2017-03-24|2005-08-09|2015-11-18|AK024676||57449|ENSG00000171680|17564964|NM_020631|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS79_%2C__%20_CCDS41240_%2C__%20_CCDS41241_%2C__%20_CCDS57967_%2C__%20_CCDS57968_%2C__%20_CCDS57969|OTTHUMG00000000905|57449|611101|NM_001042663|O94827|ENSG00000171680|uc001anm.3|PKHG5_HUMAN||B3KU07_%7C_B7Z2M3_%7C_B7Z5X2_%7C_F5GZ21_%7C_F5H1I0_%7C_Q5SY17_%7C_Q5T8W5_%7C_Q5T8W9_%7C_Q6ZNM0_%7C_Q7Z436_%7C_Q86YD8_%7C_Q96BS1|O94827|apoptotic_%20_signaling_%20_pathway_%20_(GO:0097190)_%7C_endothelial_%20_cell_%20_chemotaxis_%20_(GO:0035767)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endocytic_%20_vesicle_%20_(GO:0030139)_%7C_lamellipodium_%20_(GO:0030027)_%7C_plasma_%20_membrane_%20_(GO:0005886)|Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|PLEKHG5:57449|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201669114|6556585|false|false|0|false|0|false|0.997974_%2C_0.00202624|false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs201669114|] -chr1 6635345 indel.549 TC T . PASS FUNCOTATION=[TAS1R1|hg19|chr1|6635346|6635346|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:6635346delC|ENST00000333172.6|+|3|1346|c.1154delC|c.(1153-1155)tctfs|p.S385fs|0.600997506234414|TCCATGAGTTCTGCCTACAAC|TAS1R1_ENST00000351136.3_INTRON/TAS1R1_ENST00000328191.4_FRAME_SHIFT_DEL_p.S385fs/ZBTB48_ENST00000377674.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BK000153|NM_138697.3|NP_619642.2|HGNC:14448|taste_%20_1_%20_receptor_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GPR70|"G_%20_protein-coupled_%20_receptor_%20_70"_%2C__%20_"taste_%20_receptor_%2C__%20_type_%20_1_%2C__%20_member_%20_1"|T1R1_%2C__%20_TR1||1p36.31|2015-12-16||2015-12-16|||80835|ENSG00000173662|12856281_%2C__%20_11894099|NM_138697|1161|Taste_%20_1_%20_receptors|CCDS81_%2C__%20_CCDS82|OTTHUMG00000001441|80835|606225|NM_138697|Q7RTX1|ENSG00000173662|uc001ant.4|TS1R1_HUMAN||B2RMX0_%7C_Q5SY22_%7C_Q5SY24_%7C_Q8NGZ7_%7C_Q8TDJ7_%7C_Q8TDJ8_%7C_Q8TDJ9_%7C_Q8TDK0|Q7RTX1|detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050912)_%7C_sensory_%20_perception_%20_of_%20_umami_%20_taste_%20_(GO:0050917)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|protein_%20_heterodimerization_%20_activity_%20_(GO:0046982)_%7C_taste_%20_receptor_%20_activity_%20_(GO:0008527)||||true|false||false|false|||false|false|false|TAS1R1:80835|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|867182312|6635346|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|147|rs867182312|] -chr1 7897138 indel.606 CA C . PASS FUNCOTATION=[PER3|hg19|chr1|7897139|7897139|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:7897139delA|ENST00000377532.3|+|20|3702|c.3479delA|c.(3478-3480)caafs|p.K1161fs|0.3940149625935162|TCTCATGGGCAAAAGGAGGAG|PER3_ENST00000361923.2_FRAME_SHIFT_DEL_p.K1152fs|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:8847|period_%20_circadian_%20_regulator_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"period_%20_(Drosophila)_%20_homolog_%20_3"_%2C__%20_"period_%20_homolog_%20_3_%20_(Drosophila)"_%2C__%20_"period_%20_circadian_%20_clock_%20_3"|||1p36.23|2017-10-02||2017-10-02|BC026102||8863|ENSG00000049246|9427249|NM_016831|||CCDS89_%2C__%20_CCDS72695_%2C__%20_CCDS76097|OTTHUMG00000001216|8863|603427|NM_001289861|P56645|ENSG00000049246|uc057bxs.1|PER3_HUMAN||Q5H8X4_%7C_Q5H8X5_%7C_Q969K6_%7C_Q96S77_%7C_Q96S78_%7C_Q9C0J3_%7C_Q9NSP9_%7C_Q9UGU8|P56645|circadian_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0032922)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_sleep_%20_(GO:0045187)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false||false|false|||false|false|false|PER3:8863|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|773961726|7897139|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs773961726|] -chr1 7913430 rs228648 G A . PASS FUNCOTATION=[UTS2|hg19|chr1|7913430|7913430|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr1:7913430G>A|ENST00000377516.2|-|1|||||0.3566084788029925|GCAAAGAGACGTGGATTTATG|UTS2_ENST00000054668.5_MISSENSE_p.T21M/UTS2_ENST00000361696.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:12636|urotensin_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||UII_%2C__%20_U-II_%2C__%20_UCN2_%2C__%20_PRO1068|"prepro_%20_U-II"|1p36.23|2016-10-05|||AF104118||10911|ENSG00000049247|9861051_%2C__%20_10499587|NM_006786|542|Endogenous_%20_ligands|CCDS90_%2C__%20_CCDS91|OTTHUMG00000001218|10911|604097|NM_006786|O95399|ENSG00000049247|uc001aos.4|UTS2_HUMAN||Q5H8X7_%7C_Q6UXF6_%7C_Q9UKP7|O95399|muscle_%20_contraction_%20_(GO:0006936)_%7C_negative_%20_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0045776)_%7C_negative_%20_regulation_%20_of_%20_glomerular_%20_filtration_%20_(GO:0003105)_%7C_negative_%20_regulation_%20_of_%20_heart_%20_rate_%20_(GO:0010459)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_secretion_%20_(GO:0046676)_%7C_negative_%20_regulation_%20_of_%20_renal_%20_sodium_%20_excretion_%20_(GO:0035814)_%7C_negative_%20_regulation_%20_of_%20_urine_%20_volume_%20_(GO:0035811)_%7C_positive_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0045766)_%7C_positive_%20_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0045777)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045597)_%7C_positive_%20_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_REM_%20_sleep_%20_(GO:0046005)_%7C_positive_%20_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_wakefulness_%20_(GO:0010841)_%7C_positive_%20_regulation_%20_of_%20_collagen_%20_biosynthetic_%20_process_%20_(GO:0032967)_%7C_positive_%20_regulation_%20_of_%20_cytosolic_%20_calcium_%20_ion_%20_concentration_%20_(GO:0007204)_%7C_positive_%20_regulation_%20_of_%20_fibroblast_%20_migration_%20_(GO:0010763)_%7C_positive_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048146)_%7C_positive_%20_regulation_%20_of_%20_heart_%20_rate_%20_(GO:0010460)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_transmission_%2C__%20_cholinergic_%20_(GO:0032224)_%7C_positive_%20_regulation_%20_of_%20_vasodilation_%20_(GO:0045909)_%7C_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_response_%20_to_%20_testosterone_%20_(GO:0033574)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|hormone_%20_activity_%20_(GO:0005179)_%7C_receptor_%20_binding_%20_(GO:0005102)||||true|false|0.5216_%2C_0.4784|false|false|1||false|true|true|UTS2:10911|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|true|true|228648|7913430|false|false|0|true|0|false|0.476578_%2C_0.523422|false|false|false|SNV|true|0x050128020a0517053f000101|1|false|79|rs228648|] -chr1 8045014 indel.625 GGCC G . PASS FUNCOTATION=[PARK7|hg19|chr1|8045015|8045017|IN_FRAME_DEL||DEL|GCC|GCC|-|g.chr1:8045015_8045017delGCC|ENST00000493678.1|+|7|537_539|c.471_473delGCC|c.(469-474)gggcct>ggt|p.P158del|0.4466501240694789|CAAGCCGGGGGCCTGGGACCAGC|PARK7_ENST00000377491.1_IN_FRAME_DEL_p.P158del/PARK7_ENST00000338639.5_IN_FRAME_DEL_p.P158del/PARK7_ENST00000377488.1_IN_FRAME_DEL_p.P158del/PARK7_ENST00000377493.5_IN_FRAME_DEL_p.P138del/Y_RNA_ENST00000363474.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||D61380|||HGNC:16369|Parkinsonism_%20_associated_%20_deglycase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Parkinson_%20_disease_%20_(autosomal_%20_recessive_%2C__%20_early_%20_onset)_%20_7"_%2C__%20_"parkinson_%20_protein_%20_7"|DJ-1_%2C__%20_DJ1_%2C__%20_GATD2||1p36.23|2017-07-25||2016-02-15|D61380||11315|ENSG00000116288|11462174_%2C__%20_9070310_%2C__%20_25416785_%2C__%20_28596309|NM_007262|672_%7C_1408|Parkinson_%20_disease_%20_associated_%20_genes_%7C_Glutamine_%20_amidotransferase_%20_like_%20_class_%20_1_%20_domain_%20_containing|CCDS93|OTTHUMG00000001210|11315|602533|NM_001123377|Q99497|ENSG00000116288|uc057byc.1|PARK7_HUMAN||B2R4Z1_%7C_O14805_%7C_Q6DR95_%7C_Q7LFU2|Q99497|adult_%20_locomotory_%20_behavior_%20_(GO:0008344)_%7C_autophagy_%20_(GO:0006914)_%7C_cellular_%20_response_%20_to_%20_glyoxal_%20_(GO:0036471)_%7C_cellular_%20_response_%20_to_%20_hydrogen_%20_peroxide_%20_(GO:0070301)_%7C_cellular_%20_response_%20_to_%20_oxidative_%20_stress_%20_(GO:0034599)_%7C_dopamine_%20_uptake_%20_involved_%20_in_%20_synaptic_%20_transmission_%20_(GO:0051583)_%7C_glycolate_%20_biosynthetic_%20_process_%20_(GO:0046295)_%7C_glyoxal_%20_catabolic_%20_process_%20_(GO:1903190)_%7C_hydrogen_%20_peroxide_%20_metabolic_%20_process_%20_(GO:0042743)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_lactate_%20_biosynthetic_%20_process_%20_(GO:0019249)_%7C_membrane_%20_depolarization_%20_(GO:0051899)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_methylglyoxal_%20_catabolic_%20_process_%20_to_%20_D-lactate_%20_(GO:0019243)_%7C_mitochondrion_%20_organization_%20_(GO:0007005)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_death_%20_(GO:0060548)_%7C_negative_%20_regulation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001268)_%7C_negative_%20_regulation_%20_of_%20_death-inducing_%20_signaling_%20_complex_%20_assembly_%20_(GO:1903073)_%7C_negative_%20_regulation_%20_of_%20_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001237)_%7C_negative_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0010629)_%7C_negative_%20_regulation_%20_of_%20_hydrogen_%20_peroxide-induced_%20_cell_%20_death_%20_(GO:1903206)_%7C_negative_%20_regulation_%20_of_%20_hydrogen_%20_peroxide-induced_%20_neuron_%20_death_%20_(GO:1903208)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_death_%20_(GO:1901215)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_cell_%20_death_%20_(GO:1903202)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_neuron_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1903377)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_acetylation_%20_(GO:1901984)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_export_%20_from_%20_nucleus_%20_(GO:0046826)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_K48-linked_%20_deubiquitination_%20_(GO:1903094)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_phosphorylation_%20_(GO:0001933)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_sumoylation_%20_(GO:0033234)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_TRAIL-activated_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1903122)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0051444)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-specific_%20_protease_%20_activity_%20_(GO:2000157)_%7C_positive_%20_regulation_%20_of_%20_androgen_%20_receptor_%20_activity_%20_(GO:2000825)_%7C_positive_%20_regulation_%20_of_%20_dopamine_%20_biosynthetic_%20_process_%20_(GO:1903181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-8_%20_production_%20_(GO:0032757)_%7C_positive_%20_regulation_%20_of_%20_L-dopa_%20_biosynthetic_%20_process_%20_(GO:1903197)_%7C_positive_%20_regulation_%20_of_%20_L-dopa_%20_decarboxylase_%20_activity_%20_(GO:1903200)_%7C_positive_%20_regulation_%20_of_%20_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:1902958)_%7C_positive_%20_regulation_%20_of_%20_oxidative_%20_phosphorylation_%20_uncoupler_%20_activity_%20_(GO:2000277)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_homodimerization_%20_activity_%20_(GO:0090073)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:1900182)_%7C_positive_%20_regulation_%20_of_%20_pyrroline-5-carboxylate_%20_reductase_%20_activity_%20_(GO:1903168)_%7C_positive_%20_regulation_%20_of_%20_superoxide_%20_dismutase_%20_activity_%20_(GO:1901671)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_tyrosine_%20_3-monooxygenase_%20_activity_%20_(GO:1903178)_%7C_protein_%20_stabilization_%20_(GO:0050821)_%7C_regulation_%20_of_%20_androgen_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0060765)_%7C_regulation_%20_of_%20_fibril_%20_organization_%20_(GO:1902903)_%7C_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050727)_%7C_regulation_%20_of_%20_mitochondrial_%20_membrane_%20_potential_%20_(GO:0051881)_%7C_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043523)_%7C_single_%20_fertilization_%20_(GO:0007338)|chromatin_%20_(GO:0000785)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_PML_%20_body_%20_(GO:0016605)|androgen_%20_receptor_%20_binding_%20_(GO:0050681)_%7C_cupric_%20_ion_%20_binding_%20_(GO:1903135)_%7C_cuprous_%20_ion_%20_binding_%20_(GO:1903136)_%7C_cytokine_%20_binding_%20_(GO:0019955)_%7C_enzyme_%20_binding_%20_(GO:0019899)_%7C_glyoxalase_%20_(glycolic_%20_acid-forming)_%20_activity_%20_(GO:1990422)_%7C_glyoxalase_%20_III_%20_activity_%20_(GO:0019172)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_L-dopa_%20_decarboxylase_%20_activator_%20_activity_%20_(GO:0036478)_%7C_mRNA_%20_binding_%20_(GO:0003729)_%7C_oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_peroxide_%20_as_%20_acceptor_%20_(GO:0016684)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_peroxidase_%20_activity_%20_(GO:0004601)_%7C_peroxiredoxin_%20_activity_%20_(GO:0051920)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_receptor_%20_binding_%20_(GO:0005102)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_RNA_%20_binding_%20_(GO:0003723)_%7C_scaffold_%20_protein_%20_binding_%20_(GO:0097110)_%7C_small_%20_protein_%20_activating_%20_enzyme_%20_binding_%20_(GO:0044388)_%7C_small_%20_protein_%20_conjugating_%20_enzyme_%20_binding_%20_(GO:0044390)_%7C_superoxide_%20_dismutase_%20_copper_%20_chaperone_%20_activity_%20_(GO:0016532)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)_%7C_tyrosine_%20_3-monooxygenase_%20_activator_%20_activity_%20_(GO:0036470)_%7C_ubiquitin-specific_%20_protease_%20_binding_%20_(GO:1990381)||||true|false||false|false|||false|false|false|PARK7:11315|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|764877312|8045015|false|false|0|false|0|false||false|false|false|DIV|true|0x050000000005040402000200|1|false|144|rs764877312|] -chr1 9994822 indel.687 CT C . PASS FUNCOTATION=[LZIC|hg19|chr1|9994823|9994823|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:9994823delT|ENST00000377223.1|-|5|582|c.333delA|c.(331-333)gcafs|p.E112fs|0.3516209476309227|ATTTTACCTCTGCTAACCTTG|LZIC_ENST00000377213.1_FRAME_SHIFT_DEL_p.E112fs/LZIC_ENST00000400903.2_FRAME_SHIFT_DEL_p.E112fs/LZIC_ENST00000541052.1_FRAME_SHIFT_DEL_p.E133fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471130|||HGNC:17497|leucine_%20_zipper_%20_and_%20_CTNNBIP1_%20_domain_%20_containing|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC15436||1p36.22|2014-11-18|||AB060688||84328|ENSG00000162441|11712074|NM_032368|||CCDS107|OTTHUMG00000001804|84328|610458|NM_001316973|Q8WZA0|ENSG00000162441|uc001aqo.4|LZIC_HUMAN||B2R6F0_%7C_B4E2N0_%7C_Q96IU1|Q8WZA0|response_%20_to_%20_ionizing_%20_radiation_%20_(GO:0010212)||||||true|false||false|false|||false|false|false|LZIC:84328|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|866608629|9994823|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|147|rs866608629|] -chr1 10478954 indel.710 TC T . PASS FUNCOTATION=[PGD|hg19|chr1|10478955|10478955|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:10478955delC|ENST00000270776.8|+|11|1219|c.1182delC|c.(1180-1182)ttcfs|p.F395fs|0.46384039900249374|TGGACGACTTCTTTAAGTCAG|PGD_ENST00000538557.1_FRAME_SHIFT_DEL_p.F382fs/PGD_ENST00000541529.1_FRAME_SHIFT_DEL_p.F373fs/PGD_ENST00000498356.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U30255|NM_002631.2|NP_002622.2|HGNC:8891|phosphogluconate_%20_dehydrogenase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.22|2014-11-18|||BC000368|1.1.1.43|5226|ENSG00000142657||NM_002631|||CCDS113|OTTHUMG00000001905|5226|172200|NM_001304451|P52209|ENSG00000142657|uc001arc.4|6PGD_HUMAN|Dacarbazine(DB00851)_%7C_Furosemide(DB00695)_%7C_Gadopentetate_%20_dimeglumine(DB00789)_%7C_Ketotifen(DB00920)_%7C_Meloxicam(DB00814)_%7C_Methotrexate(DB00563)_%7C_Ritodrine(DB00867)|A8K2Y9_%7C_B4DQJ8_%7C_Q9BWD8|P52209|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_D-gluconate_%20_metabolic_%20_process_%20_(GO:0019521)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_pentose_%20_biosynthetic_%20_process_%20_(GO:0019322)_%7C_pentose-phosphate_%20_shunt_%20_(GO:0006098)_%7C_pentose-phosphate_%20_shunt_%2C__%20_oxidative_%20_branch_%20_(GO:0009051)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleus_%20_(GO:0005634)|NADP_%20_binding_%20_(GO:0050661)_%7C_phosphogluconate_%20_dehydrogenase_%20_(decarboxylating)_%20_activity_%20_(GO:0004616)||||true|false||false|false|||false|false|false|PGD:5226|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|767877628|10478955|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs767877628|] -chr1 11906068 exm15531 A G . PASS FUNCOTATION=[NPPA|hg19|chr1|11906068|11906068|NONSTOP||SNP|A|A|G|g.chr1:11906068A>G|ENST00000376480.3|-|3|553|c.454T>C|c.(454-456)Tga>Cga|p.*152R|0.4937655860349127|TGTTATCTTCAGTACTGCAAA|NPPA_ENST00000376476.1_NONSTOP_p.*102R/NPPA-AS1_ENST00000446542.1_RNA/NPPA-AS1_ENST00000400892.2_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X02558|NM_006172.3|NP_006163.1|HGNC:7939|natriuretic_%20_peptide_%20_A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ANP_%2C__%20_PND|"natriuretic_%20_peptide_%20_precursor_%20_A"|||1p36.22|2017-03-24||2010-11-09|BC005893||4878|ENSG00000175206||NM_006172|542|Endogenous_%20_ligands|CCDS139|OTTHUMG00000002388|4878|108780|NM_006172|P01160|ENSG00000175206|uc001ati.4|ANF_HUMAN||Q13766_%7C_Q5JZE1|P01160|cardiac_%20_muscle_%20_hypertrophy_%20_in_%20_response_%20_to_%20_stress_%20_(GO:0014898)_%7C_cellular_%20_response_%20_to_%20_mechanical_%20_stimulus_%20_(GO:0071260)_%7C_cGMP_%20_biosynthetic_%20_process_%20_(GO:0006182)_%7C_female_%20_pregnancy_%20_(GO:0007565)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_systemic_%20_arterial_%20_blood_%20_pressure_%20_(GO:0003085)_%7C_receptor_%20_guanylyl_%20_cyclase_%20_signaling_%20_pathway_%20_(GO:0007168)_%7C_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_regulation_%20_of_%20_blood_%20_vessel_%20_size_%20_(GO:0050880)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_response_%20_to_%20_insulin_%20_(GO:0032868)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_mast_%20_cell_%20_granule_%20_(GO:0042629)_%7C_nucleus_%20_(GO:0005634)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)|receptor_%20_binding_%20_(GO:0005102)||||true|false|0.8209_%2C_0.1791|false|false|1||false|true|false|NPPA:4878_%7C_NPPA-AS1:100379251|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|5065|11906068|false|false|0|true|0|false|0.737688_%2C_0.262312|true|false|false|SNV|true|0x05013808020515053f000100|1|false|52|rs5065|] -chr1 12069756 indel.888 CACTT C . PASS FUNCOTATION=[MFN2|hg19|chr1|12069757|12069760|FRAME_SHIFT_DEL||DEL|ACTT|ACTT|-|g.chr1:12069757_12069760delACTT|ENST00000235329.5|+|18|2499_2502|c.2178_2181delACTT|c.(2176-2181)tcacttfs|p.L727fs|0.5693069306930693|TTCTTGACTCACTTCAGAGCAAAG|MFN2_ENST00000444836.1_FRAME_SHIFT_DEL_p.L727fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||D86987|NM_014874.3|NP_055689.1|HGNC:16877|mitofusin_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CPRP1_%2C__%20_KIAA0214_%2C__%20_MARF_%2C__%20_CMT2A2||1p36.22|2017-03-24|||AF036536||9927|ENSG00000116688|12499352_%2C__%20_11181170|NM_014874|||CCDS30587|OTTHUMG00000002392|9927|608507|NM_001127660|O95140|ENSG00000116688|uc009vni.4|MFN2_HUMAN||A8K1B3_%7C_O95572_%7C_Q5JXC3_%7C_Q5JXC4_%7C_Q9H131_%7C_Q9NSX8|O95140|apoptotic_%20_process_%20_(GO:0006915)_%7C_autophagy_%20_(GO:0006914)_%7C_blastocyst_%20_formation_%20_(GO:0001825)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_mitochondrial_%20_fusion_%20_(GO:0008053)_%7C_mitochondrial_%20_membrane_%20_organization_%20_(GO:0007006)_%7C_mitochondrion_%20_localization_%20_(GO:0051646)_%7C_negative_%20_regulation_%20_of_%20_Ras_%20_protein_%20_signal_%20_transduction_%20_(GO:0046580)_%7C_negative_%20_regulation_%20_of_%20_smooth_%20_muscle_%20_cell_%20_proliferation_%20_(GO:0048662)_%7C_protein_%20_localization_%20_to_%20_pre-autophagosomal_%20_structure_%20_(GO:0034497)_%7C_protein_%20_targeting_%20_to_%20_mitochondrion_%20_(GO:0006626)_%7C_response_%20_to_%20_unfolded_%20_protein_%20_(GO:0006986)|cytosol_%20_(GO:0005829)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intrinsic_%20_component_%20_of_%20_mitochondrial_%20_outer_%20_membrane_%20_(GO:0031306)_%7C_microtubule_%20_cytoskeleton_%20_(GO:0015630)_%7C_mitochondrial_%20_outer_%20_membrane_%20_(GO:0005741)_%7C_mitochondrion_%20_(GO:0005739)|GTP_%20_binding_%20_(GO:0005525)_%7C_GTPase_%20_activity_%20_(GO:0003924)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)||||true|false||false|false|||false|false|false|MFN2:9927|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|772270096|12069757|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs772270096|] -chr1 12776344 exm16961 A T . PASS FUNCOTATION=[AADACL3|hg19|chr1|12776344|12776344|FIVE_PRIME_UTR||SNP|A|A|T|g.chr1:12776344A>T|ENST00000359318.5|+|1|||||0.5311720698254364|TGCTGTTGACATGGGTGAGTT|AADACL3_ENST00000332530.3_START_CODON_SNP_p.M1L|||||||||||||||||||||||||22|central_nervous_system(22)|||||||AL513016|NM_001103170.1|NP_001096640.1|HGNC:32037|arylacetamide_%20_deacetylase_%20_like_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||OTTHUMG00000001887||1p36.21|2016-05-26||2016-05-26|||126767|ENSG00000188984||NM_001103170|465|Arylacetamide_%20_deacetylase_%20_family|CCDS41253|OTTHUMG00000001887|126767||NM_001103170|Q5VUY0|ENSG00000188984|uc057ckc.1|ADCL3_HUMAN||B3KXR9_%7C_Q5VUY1|Q5VUY0|||hydrolase_%20_activity_%20_(GO:0016787)||||true|false|0.3435_%2C_0.6565|false|false|1||false|true|true|AADACL3:126767|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|3000859|12776344|true|true|0|true|0|true||false|false|false|SNV|true|0x050300000b0517053f000100|1|false|101|rs3000859|] -chr1 13933727 exm18587 A G . PASS FUNCOTATION=[PDPN|hg19|chr1|13933727|13933727|MISSENSE||SNP|A|A|G|g.chr1:13933727A>G|ENST00000509009.1|+|2|156|c.112A>G|c.(112-114)Atg>Gtg|p.M38V|0.42144638403990026|CGGCGTTGCCATGCCAGGTGC|PDPN_ENST00000294489.6_MISSENSE_p.M119V/PDPN_ENST00000376057.4_MISSENSE_p.M119V/PDPN_ENST00000376061.4_START_CODON_SNP_p.M1V/PDPN_ENST00000513143.1_START_CODON_SNP_p.M1V/PDPN_ENST00000475043.1_START_CODON_SNP_p.M1V/PDPN_ENST00000487038.1_START_CODON_SNP_p.M1V|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(2)|||||||AL359771|||HGNC:29602|podoplanin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||T1A-2_%2C__%20_Gp38_%2C__%20_aggrus_%2C__%20_GP40_%2C__%20_PA2.26|"lung_%20_type_%20_I_%20_cell_%20_membrane_%20_associated_%20_glycoprotein"|1p36.21|2014-11-19|||AB127958_%2C__%20_AY194238||10630|ENSG00000162493|10393083_%2C__%20_9651190|NM_006474|||CCDS30602_%2C__%20_CCDS41266_%2C__%20_CCDS44060_%2C__%20_CCDS53270|OTTHUMG00000007912|10630|608863|NM_001006624|Q86YL7|ENSG00000162493|uc001avd.4|||||||||||true|false|0.9954_%2C_0.004593|false|false|1||false|false|false|PDPN:10630|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|141726617|13933727|false|false|0|false|0|false|0.990487_%2C_0.00951302|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs141726617|] -chr1 15671649 exm19151 T C . PASS FUNCOTATION=[FHAD1|hg19|chr1|15671649|15671649|MISSENSE||SNP|T|T|C|g.chr1:15671649T>C|ENST00000375998.4|+|15|2135|c.2135T>C|c.(2134-2136)aTg>aCg|p.M712T|0.571072319201995|CGGAAGAGAATGCAAGAACTG|FHAD1_ENST00000358897.4_MISSENSE_p.M712T/FHAD1_ENST00000417793.1_MISSENSE_p.M712T/FHAD1_ENST00000375999.3_MISSENSE_p.M712T/FHAD1_ENST00000314740.8_START_CODON_SNP_p.M1T/FHAD1_ENST00000471347.1_INTRON/RP3-467K16.2_ENST00000428747.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||69|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||AL391094|||HGNC:29408|forkhead_%20_associated_%20_phosphopeptide_%20_binding_%20_domain_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"forkhead-associated_%20_(FHA)_%20_phosphopeptide_%20_binding_%20_domain_%20_1"|KIAA1937||1p36.21|2016-06-21||2016-06-21|AK093300||114827|ENSG00000142621|11572484|NM_052929||||OTTHUMG00000002088|114827||NM_052929|B1AJZ9|ENSG00000142621|uc001awb.2|FHAD1_HUMAN||Q0P6F5_%7C_Q8N8D3_%7C_Q8N9T6_%7C_Q8NA05|B1AJZ9|||||||true|false||false|false|||false|false|false|FHAD1:114827_%7C_LOC101927417:101927417|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|200826682|15671649|false|false|0|false|0|false|0.999554_%2C_0.000446459|false|false|false|SNV|true|0x050000020a05040402000100|1|false|137|rs200826682|] -chr1 17634718 exm23564 A G . PASS FUNCOTATION=[PADI4|hg19|chr1|17634718|17634718|START_CODON_SNP||SNP|A|A|G|g.chr1:17634718A>G|ENST00000375448.4|+|1|27|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6134663341645885|TAGCCCGACGATGGCCCAGGG|PADI4_ENST00000375453.1_START_CODON_SNP_p.M1V|||||||||||||||||||||||||70|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_urinary_tract(1)|||||||BC025718|NM_012387.2|NP_036519.2|HGNC:18368|peptidyl_%20_arginine_%20_deiminase_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PADI5|"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_V"_%2C__%20_"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_IV"|PAD_%2C__%20_PDI5_%2C__%20_PDI4||1p36.13|2016-04-06||2016-04-06|AB017919|3.5.3.15|23569|ENSG00000159339|10488123|NM_012387|677|Peptidyl_%20_arginine_%20_deiminases|CCDS180|OTTHUMG00000002371|23569|605347|NM_012387|Q9UM07|ENSG00000159339|uc001baj.3|PADI4_HUMAN|L-Citrulline(DB00155)|A8K392_%7C_B2RBW0_%7C_Q5VTZ8_%7C_Q70SX4|Q9UM07|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)_%7C_chromatin_%20_modification_%20_(GO:0016568)_%7C_chromatin_%20_remodeling_%20_(GO:0006338)_%7C_histone_%20_citrullination_%20_(GO:0036414)_%7C_histone_%20_H3-R26_%20_citrullination_%20_(GO:0036413)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_nucleosome_%20_assembly_%20_(GO:0006334)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_stem_%20_cell_%20_maintenance_%20_(GO:0019827)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|arginine_%20_deiminase_%20_activity_%20_(GO:0016990)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|PADI4:23569|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|141280036|17634718|false|true|0|false|0|false|0.999176_%2C_0.000824232|false|false|false|SNV|true|0x050200000a05040426000100|1|false|134|rs141280036|] -chr1 17942591 exm23940 G A . PASS FUNCOTATION=[ARHGEF10L|hg19|chr1|17942591|17942591|MISSENSE||SNP|G|G|A|g.chr1:17942591G>A|ENST00000375415.1|+|7|655|c.612G>A|c.(610-612)atG>atA|p.M204I|0.6359102244389028|TTGCTCAGATGACCCAGCTCA|ARHGEF10L_ENST00000361221.3_MISSENSE_p.M243I/ARHGEF10L_ENST00000452522.1_MISSENSE_p.M204I/ARHGEF10L_ENST00000434513.1_MISSENSE_p.M243I/ARHGEF10L_ENST00000375420.3_START_CODON_SNP_p.M1I/ARHGEF10L_ENST00000167825.4_FIVE_PRIME_FLANK/ARHGEF10L_ENST00000375408.3_FIVE_PRIME_FLANK/ARHGEF10L_ENST00000469726.1_INTRON|||||||||||||||||||||||||246|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||DQ139833|NM_001011722.2|NP_001011722.2|HGNC:25540|Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factor_%20_10_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factor_%20_(GEF)_%20_10-like"|FLJ10521_%2C__%20_KIAA1626|"GrinchGEF"|1p36.13|2015-11-09||2015-11-09|AB046846||55160|ENSG00000074964|10997877_%2C__%20_16112081|NM_018125|722|Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factors|CCDS182_%2C__%20_CCDS30617|OTTHUMG00000002514|55160|612494|NM_001011722|Q9HCE6|ENSG00000074964|uc001ban.4|ARGAL_HUMAN||B7ZKS1_%7C_Q17RW1_%7C_Q3YFJ4_%7C_Q5VXI5_%7C_Q5VXI6_%7C_Q66K51_%7C_Q6P0L7_%7C_Q8NAV5_%7C_Q9NVT3|Q9HCE6||cytoplasm_%20_(GO:0005737)|Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|ARHGEF10L:55160|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201155898|17942591|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs201155898|] -chr1 21800057 indel.1508 G GC . PASS FUNCOTATION=[NBPF3|hg19|chr1|21800057|21800058|FRAME_SHIFT_INS||INS|-|-|C|g.chr1:21800057_21800058insC|ENST00000318220.6|+|10|1799|c.751_752insC|c.(751-753)gatfs|p.D251fs|0.4525|GAATGGTTGGATGCTGTATG|NBPF3_ENST00000342104.5_FRAME_SHIFT_INS_p.D307fs/NBPF3_ENST00000318249.5_FRAME_SHIFT_INS_p.D307fs/NBPF3_ENST00000454000.2_FRAME_SHIFT_INS_p.D237fs|||||||||||||||||||||||||211|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||BC024011|||HGNC:25076|NBPF_%20_member_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"neuroblastoma_%20_breakpoint_%20_family_%2C__%20_member_%20_3"|AE2||1p36.12|2017-03-01||2017-03-01|BC024011||84224|ENSG00000142794|11230166_%2C__%20_16079250|NM_032264|662|NBPF_%20_members|CCDS216_%2C__%20_CCDS57976_%2C__%20_CCDS57977_%2C__%20_CCDS81275|OTTHUMG00000002944|84224|612992|NM_001256416|Q9H094|ENSG00000142794|uc001ber.5|NBPF3_HUMAN||A8K965_%7C_B4DSP2_%7C_I3L0I8_%7C_Q3BBW1_%7C_Q5VTG2_%7C_Q5VTG3_%7C_Q5VTG4_%7C_Q8IX78_%7C_Q8ND86_%7C_Q8TC96|Q9H094||cytoplasm_%20_(GO:0005737)|||||true|false||false|false|||false|false|false|NBPF3:84224|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|747645859|21800057|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs747645859|] -chr1 21896823 exm28148 C T . PASS FUNCOTATION=[ALPL|hg19|chr1|21896823|21896823|MISSENSE||SNP|C|C|T|g.chr1:21896823C>T|ENST00000374840.3|+|8|1068|c.818C>T|c.(817-819)aCg>aTg|p.T273M|0.5810473815461347|TGGAACCGCACGGAACTCCTG|ALPL_ENST00000374832.1_MISSENSE_p.T273M/ALPL_ENST00000374830.1_DE_NOVO_START_IN_FRAME/ALPL_ENST00000425315.2_MISSENSE_p.T273M/ALPL_ENST00000540617.1_MISSENSE_p.T218M/ALPL_ENST00000539907.1_MISSENSE_p.T196M/ALPL_ENST00000374829.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(45)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X14174|NM_000478.4|NP_000469.3|HGNC:438|alkaline_%20_phosphatase_%2C__%20_liver/bone/kidney|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HOPS||TNSALP||1p36.12|2014-11-18|||BC021289|3.1.3.1|249|ENSG00000162551|3532105_%2C__%20_3446011|NM_000478|1072|Alkaline_%20_phosphatases|CCDS217_%2C__%20_CCDS53274_%2C__%20_CCDS53275|OTTHUMG00000002949|249|171760|NM_000478|P05186|ENSG00000162551|uc001bet.4|PPBT_HUMAN|Amifostine(DB01143)_%7C_Fospropofol(DB06716)|A1A4E7_%7C_B2RMP8_%7C_B7Z387_%7C_B7Z4Y6_%7C_O75090_%7C_Q2TAI7_%7C_Q59EJ7_%7C_Q5BKZ5_%7C_Q5VTG5_%7C_Q6NZI8_%7C_Q8WU32_%7C_Q9UBK0|P05186|cellular_%20_response_%20_to_%20_organic_%20_cyclic_%20_compound_%20_(GO:0071407)_%7C_cementum_%20_mineralization_%20_(GO:0071529)_%7C_developmental_%20_process_%20_involved_%20_in_%20_reproduction_%20_(GO:0003006)_%7C_endochondral_%20_ossification_%20_(GO:0001958)_%7C_osteoblast_%20_differentiation_%20_(GO:0001649)_%7C_response_%20_to_%20_antibiotic_%20_(GO:0046677)_%7C_response_%20_to_%20_glucocorticoid_%20_(GO:0051384)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)_%7C_response_%20_to_%20_vitamin_%20_D_%20_(GO:0033280)_%7C_skeletal_%20_system_%20_development_%20_(GO:0001501)|anchored_%20_component_%20_of_%20_membrane_%20_(GO:0031225)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|alkaline_%20_phosphatase_%20_activity_%20_(GO:0004035)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_pyrophosphatase_%20_activity_%20_(GO:0016462)||||true|false||false|false|||false|false|false|ALPL:249|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|148405563|21896823|false|true|0|false|0|false|0.999244_%2C_0.000755546|false|false|false|SNV|true|0x050200000a05040402000100|1|false|134|rs148405563|] -chr1 23435538 rs16827981 G A . PASS FUNCOTATION=[LUZP1|hg19|chr1|23435538|23435538|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr1:23435538G>A|ENST00000302291.4|-|3|||||0.4339152119700748|CAAGCTTTCCGTCAATACTTC|LUZP1_ENST00000314174.5_INTRON/LUZP1_ENST00000418342.1_DE_NOVO_START_IN_FRAME/LUZP1_ENST00000374623.3_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC051733|||HGNC:14985|leucine_%20_zipper_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||LUZP||1p36.12|2016-10-05|||BC051733||7798|ENSG00000169641|8812416|NM_033631|||CCDS30628|OTTHUMG00000003227|7798|601422|NM_001142546|Q86V48|ENSG00000169641|uc001bgm.2|LUZP1_HUMAN||Q5TH93_%7C_Q8N4X3_%7C_Q8TEH1|Q86V48|artery_%20_development_%20_(GO:0060840)_%7C_neural_%20_fold_%20_bending_%20_(GO:0021503)_%7C_ventricular_%20_septum_%20_development_%20_(GO:0003281)|membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)|||||true|false|0.8674_%2C_0.1326|false|false|1||false|true|false|LUZP1:7798|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|16827981|23435538|false|false|0|true|0|false|0.807164_%2C_0.192836|false|false|true|SNV|true|0x050100400005150537000100|1|false|123|rs16827981|] -chr1 23435538 rs16827981 G AT . PASS FUNCOTATION=[LUZP1|hg19|chr1|23435538|23435539|DE_NOVO_START_OUT_FRAME||INS|-|-|T|g.chr1:23435538_23435539insAT|ENST00000302291.4|-|3|||||0.4325|AAGCTTTCCGTCAATACTTC|LUZP1_ENST00000314174.5_INTRON/LUZP1_ENST00000418342.1_DE_NOVO_START_OUT_FRAME/LUZP1_ENST00000374623.3_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC051733|||HGNC:14985|leucine_%20_zipper_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||LUZP||1p36.12|2016-10-05|||BC051733||7798|ENSG00000169641|8812416|NM_033631|||CCDS30628|OTTHUMG00000003227|7798|601422|NM_001142546|Q86V48|ENSG00000169641|uc001bgm.2|LUZP1_HUMAN||Q5TH93_%7C_Q8N4X3_%7C_Q8TEH1|Q86V48|artery_%20_development_%20_(GO:0060840)_%7C_neural_%20_fold_%20_bending_%20_(GO:0021503)_%7C_ventricular_%20_septum_%20_development_%20_(GO:0003281)|membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 23751126 exm30864 T A . PASS FUNCOTATION=[TCEA3|hg19|chr1|23751126|23751126|START_CODON_SNP||SNP|T|T|A|g.chr1:23751126T>A|ENST00000450454.2|-|1|108|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.7506234413965087|TCCTGGCCCATGTTGGCCCGC|TCEA3_ENST00000374601.3_START_CODON_SNP_p.M1L|||||||||||||||||||||||||1|upper_aerodigestive_tract(1)|||||||BC041613|NM_003196.1|NP_003187.1|HGNC:11615|transcription_%20_elongation_%20_factor_%20_A3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"transcription_%20_elongation_%20_factor_%20_A_%20_(SII)_%2C__%20_3"|TFIIS.H||1p36.12|2016-10-05||2016-02-15|AJ223473||6920|ENSG00000204219|9790746|NM_003196|||CCDS44086|OTTHUMG00000003233|6920|604128|NM_003196|O75764|ENSG00000204219|uc057dfl.1|TCEA3_HUMAN||A8K2K7_%7C_Q5DR83|O75764|regulation_%20_of_%20_DNA-templated_%20_transcription_%2C__%20_elongation_%20_(GO:0032784)_%7C_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006357)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false||false|false|||false|false|false|TCEA3:6920|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200503010|23751126|false|true|0|false|0|false|0.999794_%2C_0.000171715_%2C_3.4343e-005|false|false|false|SNV|true|0x050200000a05040402000100|1|false|137|rs200503010|] -chr1 23756350 exm30867 T C . PASS FUNCOTATION=[ASAP3|hg19|chr1|23756350|23756350|NONSTOP||SNP|T|T|C|g.chr1:23756350T>C|ENST00000336689.3|-|25|2756|c.2711A>G|c.(2710-2712)tAg>tGg|p.*904W|0.4763092269326683|AGCAAGGAGCTAGTCTTGCAA|ASAP3_ENST00000437606.2_NONSTOP_p.*895W/ASAP3_ENST00000495646.1_NONSTOP_p.*408W|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471134|NM_017707.3|NP_060177.2|HGNC:14987|ArfGAP_%20_with_%20_SH3_%20_domain_%2C__%20_ankyrin_%20_repeat_%20_and_%20_PH_%20_domain_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DDEFL1|"development_%20_and_%20_differentiation_%20_enhancing_%20_factor-like_%20_1"|FLJ20199_%2C__%20_UPLC1_%2C__%20_CENTB6|"centaurin_%2C__%20_beta_%20_6"|1p36.12|2016-10-05|2008-09-22|2008-10-09|AK000206||55616|ENSG00000088280|14654939|NM_017707|403_%7C_682_%7C_395_%7C_1291|Ankyrin_%20_repeat_%20_domain_%20_containing_%7C_Pleckstrin_%20_homology_%20_domain_%20_containing_%7C_ArfGAPs_%7C_BAR-PH_%20_domain_%20_containing|CCDS235_%2C__%20_CCDS44087|OTTHUMG00000003234|55616|616594|NM_001143778|Q8TDY4|ENSG00000088280|uc001bha.3|ASAP3_HUMAN||B3KRW0_%7C_B4DHH4_%7C_Q6P9F4_%7C_Q86UY1_%7C_Q9NXK2|Q8TDY4|cell_%20_migration_%20_(GO:0016477)_%7C_positive_%20_regulation_%20_of_%20_ARF_%20_GTPase_%20_activity_%20_(GO:0032850)_%7C_regulation_%20_of_%20_stress_%20_fiber_%20_assembly_%20_(GO:0051492)|cytoplasm_%20_(GO:0005737)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_ruffle_%20_(GO:0001726)|ARF_%20_GTPase_%20_activator_%20_activity_%20_(GO:0008060)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false||false|false|||false|false|false|ASAP3:55616|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|148021104|23756350|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000205000402000100|1|false|134|rs148021104|] -chr1 24201027 var_1_24201027 AG A . PASS FUNCOTATION=[CNR2|hg19|chr1|24201028|24201028|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:24201028delG|ENST00000374472.4|-|2|1243|c.1080delC|c.(1078-1080)tgcfs|p.*361fs|0.5286783042394015|GGCCTCATCAGCAATCAGAGA|CNR2_ENST00000536471.1_FRAME_SHIFT_DEL_p.*361fs|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X74328|NM_001841.2|NP_001832.1|HGNC:2160|cannabinoid_%20_receptor_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"cannabinoid_%20_receptor_%20_2_%20_(macrophage)"|CB2||1p36.11|2016-10-05||2015-11-06|X74328||1269|ENSG00000188822||NM_001841|202|Cannabinoid_%20_receptors|CCDS245|OTTHUMG00000013892|1269|605051|NM_001841|P34972|ENSG00000188822|uc001bif.4|CNR2_HUMAN|Dronabinol(DB00470)_%7C_Nabilone(DB00486)|C6ES44_%7C_Q4VBK8_%7C_Q5JRH7_%7C_Q6B0G7_%7C_Q6NSY0|P34972|G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%2C__%20_coupled_%20_to_%20_cyclic_%20_nucleotide_%20_second_%20_messenger_%20_(GO:0007187)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_negative_%20_regulation_%20_of_%20_action_%20_potential_%20_(GO:0045759)_%7C_negative_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050728)_%7C_negative_%20_regulation_%20_of_%20_mast_%20_cell_%20_activation_%20_(GO:0033004)_%7C_negative_%20_regulation_%20_of_%20_nitric-oxide_%20_synthase_%20_activity_%20_(GO:0051001)_%7C_negative_%20_regulation_%20_of_%20_synaptic_%20_transmission_%2C__%20_GABAergic_%20_(GO:0032229)_%7C_response_%20_to_%20_amphetamine_%20_(GO:0001975)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)_%7C_sensory_%20_perception_%20_of_%20_pain_%20_(GO:0019233)|dendrite_%20_(GO:0030425)_%7C_extrinsic_%20_component_%20_of_%20_cytoplasmic_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0031234)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)|cannabinoid_%20_receptor_%20_activity_%20_(GO:0004949)||||true|false||false|false|||false|false|false|CNR2:1269|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|758031503|24201028|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs758031503|] -chr1 24687425 indel.1723 T TA . PASS FUNCOTATION=[STPG1|hg19|chr1|24687425|24687426|FRAME_SHIFT_INS||INS|-|-|A|g.chr1:24687425_24687426insA|ENST00000374409.1|-|8|1099|c.843_844insT|c.(844-846)aagfs|p.K282fs|0.5|TGAAATGCTTGCGGGGGCCT|STPG1_ENST00000337248.4_FRAME_SHIFT_INS_p.K282fs/STPG1_ENST00000003583.8_FRAME_SHIFT_INS_p.K235fs/GRHL3_ENST00000350501.5_INTRON/STPG1_ENST00000440416.1_FRAME_SHIFT_INS_p.K235fs/STPG1_ENST00000468303.1_INTRON|||||||||||||||||||||||||||||||||BC063891|NM_001199012.1|NP_001185941.1|HGNC:28070|sperm_%20_tail_%20_PG-rich_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf201|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_201"|FLJ33340_%2C__%20_MAPO2|"O6-methylguanine-induced_%20_apoptosis_%20_2"|1p36.11|2016-02-26|2012-07-30|2016-02-26|BC047705||90529|ENSG00000001460|23028632|NM_178122|||CCDS253_%2C__%20_CCDS55581|OTTHUMG00000003297|90529|615826|NM_001199012|Q5TH74|ENSG00000001460|uc001bja.4|STPG1_HUMAN||Q49AP0_%7C_Q6P3R4_%7C_Q86VU9_%7C_Q8WVQ3|Q5TH74|apoptotic_%20_process_%20_(GO:0006915)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|STPG1:90529_%7C_GRHL3:57822|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|868621625|24687425|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|147|rs868621625|] -chr1 31791962 exm39079 A G . PASS FUNCOTATION=[ZCCHC17|hg19|chr1|31791962|31791962|MISSENSE||SNP|A|A|G|g.chr1:31791962A>G|ENST00000373714.1|+|3|334|c.73A>G|c.(73-75)Atg>Gtg|p.M25V|0.3690773067331671|ATAGGTTGCTATGGTGACAGA|ZCCHC17_ENST00000344147.5_MISSENSE_p.M25V/ZCCHC17_ENST00000546109.1_MISSENSE_p.M17V/ZCCHC17_ENST00000422613.2_START_CODON_SNP_p.M1V/ZCCHC17_ENST00000479629.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_001282570.1|NP_001269503.1|HGNC:30246|zinc_%20_finger_%20_CCHC-type_%20_containing_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||PS1D_%2C__%20_HSPC251_%2C__%20_pNO40||1p35.2|2016-02-12||2016-02-12|AF151085||51538|ENSG00000121766|12202495_%2C__%20_12893261|NM_016505|74|Zinc_%20_fingers_%20_CCHC-type|CCDS341_%2C__%20_CCDS60061_%2C__%20_CCDS72741_%2C__%20_CCDS72742_%2C__%20_CCDS72743_%2C__%20_CCDS72744_%2C__%20_CCDS60062|OTTHUMG00000003791|51538||NM_001282566|Q9NP64|ENSG00000121766|uc001bsp.3|NO40_HUMAN||B4DY38_%7C_D3DPN4_%7C_Q6PKH4_%7C_Q9NYG4_%7C_Q9P0M8|Q9NP64||cytosolic_%20_large_%20_ribosomal_%20_subunit_%20_(GO:0022625)_%7C_nucleolus_%20_(GO:0005730)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|ZCCHC17:51538|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149257512|31791962|false|true|0|false|0|false|0.998729_%2C_0.00127069|false|false|true|SNV|true|0x050200400a05040436000100|1|false|134|rs149257512|] -chr1 32620194 exm40264 A G . PASS FUNCOTATION=[KPNA6|hg19|chr1|32620194|32620194|MISSENSE||SNP|A|A|G|g.chr1:32620194A>G|ENST00000373625.3|+|2|103|c.10A>G|c.(10-12)Atg>Gtg|p.M4V|0.4688279301745636|TCTAGAGACCATGGCGAGCCC|KPNA6_ENST00000537234.1_START_CODON_SNP_p.M1V/KPNA6_ENST00000545542.1_MISSENSE_p.M9V/KPNA6_ENST00000469790.1_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471059|NM_012316.4|NP_036448.1|HGNC:6399|karyopherin_%20_subunit_%20_alpha_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"karyopherin_%20_alpha_%20_6_%20_(importin_%20_alpha_%20_7)"_%2C__%20_"karyopherin_%20_alpha_%20_6"|IPOA7_%2C__%20_KPNA7_%2C__%20_MGC17918_%2C__%20_FLJ11249|"importin_%20_alpha_%20_7"|1p35.2|2016-10-05||2016-02-01|AF060543||23633|ENSG00000025800|10523667|NM_012316|596_%7C_409|Importins_%7C_Armadillo_%20_repeat_%20_containing|CCDS352|OTTHUMG00000004333|23633|610563|NM_012316|O60684|ENSG00000025800|uc001bug.4|IMA7_HUMAN||B2RDC7_%7C_D3DPP5_%7C_Q5VVU3|O60684|maternal_%20_process_%20_involved_%20_in_%20_female_%20_pregnancy_%20_(GO:0060135)_%7C_NLS-bearing_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006607)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)|cytoplasm_%20_(GO:0005737)_%7C_membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)|protein_%20_transporter_%20_activity_%20_(GO:0008565)||||true|false||false|false|||false|false|false|KPNA6:23633|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147022148|32620194|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs147022148|] -chr1 36558985 exm44727 T G . PASS FUNCOTATION=[ADPRHL2|hg19|chr1|36558985|36558985|NONSTOP||SNP|T|T|G|g.chr1:36558985T>G|ENST00000373178.4|+|6|1120|c.1090T>G|c.(1090-1092)Tga>Gga|p.*364G|0.571072319201995|CCAGAAGAGTTGATGAGGGCT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR457237|NM_017825.2|NP_060295.1|HGNC:21304|ADP-ribosylhydrolase_%20_like_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ARH3_%2C__%20_FLJ20446|"ADP-ribosylarginine_%20_hydrolase_%20_like_%20_2"|1p34.3|2016-06-02|||AJ427295||54936|ENSG00000116863|12070318_%2C__%20_16278211|NM_017825|||CCDS402|OTTHUMG00000007628|54936|610624|NM_017825|Q9NX46|ENSG00000116863|uc001bzt.4|ARHL2_HUMAN||Q53G94_%7C_Q6IAB8_%7C_Q9BY47|Q9NX46||mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_poly(ADP-ribose)_%20_glycohydrolase_%20_activity_%20_(GO:0004649)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|ADPRHL2:54936|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|183554661|36558985|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000205040436000100|1|false|135|rs183554661|] -chr1 43232984 exm51112 T C . PASS FUNCOTATION=[C1orf50|hg19|chr1|43232984|43232984|START_CODON_SNP||SNP|T|T|C|g.chr1:43232984T>C|ENST00000372525.5|+|1|45|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6957605985037406|GGCGCTGTCATGGAGGACGCC|C1orf50_ENST00000536543.1_THREE_PRIME_UTR/LEPRE1_ENST00000236040.4_FIVE_PRIME_FLANK/LEPRE1_ENST00000296388.5_FIVE_PRIME_FLANK/LEPRE1_ENST00000397054.3_FIVE_PRIME_FLANK/C1orf50_ENST00000468913.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC001711|NM_024097.3|NP_077002.2|HGNC:28795|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_50|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC955||1p34.2|2016-10-24|||BC001711||79078|ENSG00000164008|12477932|NM_024097|||CCDS473|OTTHUMG00000191873|79078||NM_024097|Q9BV19|ENSG00000164008|uc001cia.5|CA050_HUMAN|||Q9BV19|||||||true|false|0.9996_%2C_._%2C_0.0003994|false|false|0||false|false|false|P3H1:64175_%7C_C1orf50:79078|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|200116115|43232984|false|false|0|false|0|false|0.999622_%2C_0.000171715_%2C_0.000206058|false|false|false|SNV|true|0x050000020a05040436000100|1|false|137|rs200116115|] -chr1 45974886 exm55303 G C . PASS FUNCOTATION=[MMACHC|hg19|chr1|45974886|45974886|NONSTOP||SNP|G|G|C|g.chr1:45974886G>C|ENST00000401061.4|+|4|1128|c.848G>C|c.(847-849)tGa>tCa|p.*283S|0.5112219451371571|CCTGGCCCTTGATTTTCTCCC|MMACHC_ENST00000477188.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC006122|NM_015506.2|NP_056321.2|HGNC:24525|methylmalonic_%20_aciduria_%20_(cobalamin_%20_deficiency)_%20_cblC_%20_type_%2C__%20_with_%20_homocystinuria|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||DKFZP564I122_%2C__%20_cblC||1p34.1|2016-07-08|||||25974|ENSG00000132763|16311595_%2C__%20_19700356_%2C__%20_19801555|NM_015506|||CCDS41324_%2C__%20_CCDS81315|OTTHUMG00000007742|25974|609831|NM_015506|Q9Y4U1|ENSG00000132763|uc009vxv.4|MMAC_HUMAN|Cyanocobalamin(DB00115)_%7C_Hydroxocobalamin(DB00200)|Q5T157_%7C_Q9BRQ7|Q9Y4U1|cobalamin_%20_biosynthetic_%20_process_%20_(GO:0009236)_%7C_cobalamin_%20_metabolic_%20_process_%20_(GO:0009235)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)_%7C_mitochondrion_%20_(GO:0005739)|cobalamin_%20_binding_%20_(GO:0031419)||||true|false||false|false|||false|false|false|MMACHC:25974|false|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201025783|45974886|false|false|0|false|0|false|0.999244_%2C_0.000240401_%2C_0.000515145|false|false|false|SNV|true|0x050000000205040416000100|1|false|137|rs201025783|] -chr1 47013404 exm56794 A G . PASS FUNCOTATION=[KNCN|hg19|chr1|47013404|47013404|NONSTOP||SNP|A|A|G|g.chr1:47013404A>G|ENST00000396314.3|-|3|304|c.304T>C|c.(304-306)Tga>Cga|p.*102R|0.6508728179551122|ACTTTGCCTCAGCATTCCTCA|KNCN_ENST00000481882.2_NONSTOP_p.*125R/MKNK1-AS1_ENST00000602433.1_RNA/KNCN_ENST00000524908.1_INTRON|||||||||||||||||||||||||||||||||DA208279|NM_001097611.1|NP_001091080.1|HGNC:26488|kinocilin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32011_%2C__%20_KINO_%2C__%20_L5||1p33|2014-02-12||2006-10-26|AK056573||148930|ENSG00000162456|15855039|NM_182516|||CCDS44133_%2C__%20_CCDS81316|OTTHUMG00000007987|148930|611455|NM_001097611|A6PVL3|ENSG00000162456|uc009vyh.2|KNCN_HUMAN||A8MXE3|A6PVL3||apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_ciliary_%20_basal_%20_body_%20_(GO:0036064)_%7C_cuticular_%20_plate_%20_(GO:0032437)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_kinocilium_%20_(GO:0060091)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)|||||true|false|0.9964_%2C_0.003594|false|false|1||false|false|false|MKNK1-AS1:100507423_%7C_KNCN:148930|false|true|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|140455646|47013404|false|false|0|false|0|false|0.993337_%2C_0.00666255|false|false|false|SNV|true|0x050000080205040426000100|1|false|134|rs140455646|] -chr1 47075329 exm56885 A G . PASS FUNCOTATION=[MOB3C|hg19|chr1|47075329|47075329|NONSTOP||SNP|A|A|G|g.chr1:47075329A>G|ENST00000371940.1|-|3|3793|c.718T>C|c.(718-720)Tga>Cga|p.*240R|0.543640897755611|ACCTGGGCTCAGTGGCAGATC|MOB3C_ENST00000271139.8_NONSTOP_p.*269R/MOB3C_ENST00000319928.3_NONSTOP_p.*217R/MKNK1_ENST00000545730.1_INTRON|||||||||||||||||||||||||||||||||CH471059|||HGNC:29800|MOB_%20_kinase_%20_activator_%20_3C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MOBKL2C|"MOB1_%2C__%20_Mps_%20_One_%20_Binder_%20_kinase_%20_activator-like_%20_2C_%20_(yeast)"|MOB1E||1p33|2016-10-05|2011-09-28|2011-09-28|AK091808||148932|ENSG00000142961|12477932|NM_145279|647|MOB_%20_kinase_%20_activators|CCDS539_%2C__%20_CCDS540|OTTHUMG00000007989|148932||NM_145279|Q70IA8|ENSG00000142961|uc001cqf.4|MOB3C_HUMAN||D3DQ22_%7C_Q0VA98_%7C_Q5TC10_%7C_Q5TC11_%7C_Q8NAZ2_%7C_Q8NF28|Q70IA8|||metal_%20_ion_%20_binding_%20_(GO:0046872)||||true|false||false|false|||false|false|false|MOB3C:148932|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|149444077|47075329|false|false|0|true|0|false|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050100000205040402000100|1|false|134|rs149444077|] -chr1 55207184 var_1_55207184 T TAG . PASS FUNCOTATION=[TTC4|hg19|chr1|55207184|55207185|FRAME_SHIFT_INS||INS|-|-|AG|g.chr1:55207184_55207185insAG|ENST00000371281.3|+|10|1249|c.1162_1163insAG|c.(1162-1164)tgafs|p.L389fs|0.51|CAGATACGATGACTAAGCCA|TTC4_ENST00000371284.5_INTRON/MROH7-TTC4_ENST00000414150.2_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_004623.4|NP_004614.3|HGNC:12394|tetratricopeptide_%20_repeat_%20_domain_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC5097_%2C__%20_FLJ41930_%2C__%20_CNS1||1p32.3|2017-05-19|||||7268|ENSG00000243725|9933562|NM_004623|769|Tetratricopeptide_%20_repeat_%20_domain_%20_containing|CCDS596|OTTHUMG00000009914|7268|606753|NM_001291333|O95801|ENSG00000243725|uc001cxx.5|TTC4_HUMAN||Q53Y95_%7C_Q5TA96_%7C_Q9H3I2|O95801|||||||true|false||false|false|||false|false|false|TTC4:7268_%7C_MROH7-TTC4:100527960|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|775455587|55207184|false|false|0|false|0|true||false|false|false|DIV|true|0x050000000305040402000200|1|false|144|rs775455587|] -chr1 55307347 exm62368 T G . PASS FUNCOTATION=[C1orf177|hg19|chr1|55307347|55307347|INTRON||SNP|T|T|G|g.chr1:55307347T>G|ENST00000371273.3|+|||c.e10-127T>G|||0.4339152119700748|CTCACCAATGTAGGATCTCCT|C1orf177_ENST00000358193.3_NONSTOP_p.*415E|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC064142|NM_001110533.1|NP_001104003.1||||||||||||||||||||||||||||||CA177_HUMAN||B7WPL2_%7C_Q8N7Y9|Q3ZCV2|||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|LEXM:163747|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|147344078|55307347|false|false|0|false|0|false|0.999451_%2C_0.000549488|false|false|false|SNV|true|0x050000080205040436000100|1|false|134|rs147344078|] -chr1 60228254 exm1845312 T C . PASS FUNCOTATION=[FGGY|hg19|chr1|60228254|60228254|NONSTOP||SNP|T|T|C|g.chr1:60228254T>C|ENST00000371218.4|+|17|1910|c.1726T>C|c.(1726-1728)Tga>Cga|p.*576R|0.3765586034912718|GAATGATGACTGAACAGGGCT|FGGY_ENST00000371212.1_NONSTOP_p.*464R/FGGY_ENST00000303721.7_NONSTOP_p.*552R/FGGY_ENST00000371210.1_NONSTOP_p.*253R/RP4-782L23.2_ENST00000443012.1_RNA|||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(1)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471059|NM_001113411.1|NP_001106882.1|HGNC:25610|FGGY_%20_carbohydrate_%20_kinase_%20_domain_%20_containing|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10986||1p32.1|2015-09-11|||||55277|ENSG00000172456|17671248|NM_001113411|||CCDS611_%2C__%20_CCDS44155_%2C__%20_CCDS58003_%2C__%20_CCDS60155|OTTHUMG00000008424|55277|611370|NM_001113411|Q96C11|ENSG00000172456|uc001czi.6|FGGY_HUMAN||B1AK92_%7C_B1AK93_%7C_B1AK94_%7C_B2RDR8_%7C_D3DQ56_%7C_Q9HA63_%7C_Q9NV20|Q96C11|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cell_%20_death_%20_(GO:0008219)_%7C_neuron_%20_cellular_%20_homeostasis_%20_(GO:0070050)||kinase_%20_activity_%20_(GO:0016301)_%7C_phosphotransferase_%20_activity_%2C__%20_alcohol_%20_group_%20_as_%20_acceptor_%20_(GO:0016773)||||true|false|0.9996_%2C_0.0003994_%2C_.|false|false|0||false|false|false|FGGY:55277|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201875327|60228254|false|false|0|false|0|false|0.999897_%2C_._%2C_0.000103029|false|false|false|SNV|true|0x050000000205040436000100|1|false|137|rs201875327|] -chr1 67160814 rs1325267 C T . PASS FUNCOTATION=[SGIP1|hg19|chr1|67160814|67160814|INTRON||SNP|C|C|T|g.chr1:67160814C>T|ENST00000237247.6|+|||c.e20-303C>T|||0.4014962593516209|AATATGCTGACGCCCCTGCAT|SGIP1_ENST00000371037.4_INTRON/SGIP1_ENST00000371039.1_INTRON/SGIP1_ENST00000435165.2_DE_NOVO_START_IN_FRAME/SGIP1_ENST00000371036.3_INTRON/SGIP1_ENST00000371035.3_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR749541|||HGNC:25412|SH3_%20_domain_%20_GRB2_%20_like_%20_endophilin_%20_interacting_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||DKFZp761D221||1p31.3|2016-05-18||2016-05-18|AL136561||84251|ENSG00000118473|11230166|NM_032291|||CCDS30744_%2C__%20_CCDS76171|OTTHUMG00000009161|84251|611540|NM_001308203|Q9BQI5|ENSG00000118473|uc001dcr.4|SGIP1_HUMAN||A6NL81_%7C_A6NLD1_%7C_Q4LE32_%7C_Q5VYE2_%7C_Q5VYE3_%7C_Q5VYE4_%7C_Q68D76_%7C_Q6MZY6_%7C_Q8IWC2|Q9BQI5|endocytosis_%20_(GO:0006897)_%7C_membrane_%20_tubulation_%20_(GO:0097320)_%7C_positive_%20_regulation_%20_of_%20_energy_%20_homeostasis_%20_(GO:2000507)_%7C_positive_%20_regulation_%20_of_%20_feeding_%20_behavior_%20_(GO:2000253)_%7C_positive_%20_regulation_%20_of_%20_receptor-mediated_%20_endocytosis_%20_(GO:0048260)_%7C_response_%20_to_%20_dietary_%20_excess_%20_(GO:0002021)|AP-2_%20_adaptor_%20_complex_%20_(GO:0030122)_%7C_clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_coated_%20_pit_%20_(GO:0005905)_%7C_cytoplasm_%20_(GO:0005737)_%7C_plasma_%20_membrane_%20_(GO:0005886)|microtubule_%20_binding_%20_(GO:0008017)_%7C_phospholipid_%20_binding_%20_(GO:0005543)_%7C_SH3_%20_domain_%20_binding_%20_(GO:0017124)||||true|false|0.7632_%2C_0.2368|false|false|1||false|true|true|SGIP1:84251|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|1325267|67160814|false|false|0|true|0|false|0.864585_%2C_0.135415|false|false|false|SNV|true|0x05010008000517053f000100|1|false|88|rs1325267|] -chr1 67288063 indel.4057 G GCT . PASS FUNCOTATION=[WDR78|hg19|chr1|67288063|67288064|FRAME_SHIFT_INS||INS|-|-|CT|g.chr1:67288063_67288064insCT|ENST00000371026.3|-|16|2533|c.2476_2477insAG|c.(2476-2478)actfs|p.T826fs|0.3275|TCCAAAACAGTAGGCATATT|WDR78_ENST00000431318.1_FRAME_SHIFT_INS_p.T539fs/RP11-342H21.2_ENST00000456389.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC032406|NM_024763.4|NP_079039.4|HGNC:26252|WD_%20_repeat_%20_domain_%20_78|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||DIC4_%2C__%20_FLJ23129||1p31.3|2016-10-05|2013-02-19|2013-02-19|BX648840||79819|ENSG00000152763|21953912|NM_024763|362|WD_%20_repeat_%20_domain_%20_containing|CCDS635_%2C__%20_CCDS44157|OTTHUMG00000009165|79819||NM_024763|Q5VTH9|ENSG00000152763|uc001dcx.5|WDR78_HUMAN||A8K9W5_%7C_B5MDT3_%7C_H7BY80_%7C_Q5VTI0_%7C_Q8N5G5_%7C_Q9H5R9_%7C_Q9UF44|Q5VTH9|hematopoietic_%20_progenitor_%20_cell_%20_differentiation_%20_(GO:0002244)||||||true|false||false|false|||false|false|false|WDR78:79819|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|754415129|67288063|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs754415129|] -chr1 67773351 rs12142823 C T . PASS FUNCOTATION=[IL12RB2|hg19|chr1|67773351|67773351|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:67773351C>T|ENST00000262345.1|+|1|||||0.6633416458852868|GTGGAAACCACGGGCGCCCGC|IL12RB2_ENST00000371000.1_DE_NOVO_START_OUT_FRAME/IL12RB2_ENST00000541374.1_FIVE_PRIME_FLANK/IL12RB2_ENST00000544434.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U64198|NM_001559.2|NP_001550.1|HGNC:5972|interleukin_%20_12_%20_receptor_%20_subunit_%20_beta_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"interleukin_%20_12_%20_receptor_%2C__%20_beta_%20_2"|||1p31.3|2016-10-05||2015-12-11|U64198||3595|ENSG00000081985|9284929_%2C__%20_8943050|NM_001559|555_%7C_602|Fibronectin_%20_type_%20_III_%20_domain_%20_containing_%7C_Interleukin_%20_receptors|CCDS638_%2C__%20_CCDS58006_%2C__%20_CCDS58007_%2C__%20_CCDS72805|OTTHUMG00000009094|3595|601642|NM_001258214|Q99665|ENSG00000081985|uc001ddu.3|I12R2_HUMAN||B1AN98_%7C_B7ZKL9_%7C_F5H7L6_%7C_Q2M3V3|Q99665|cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007166)_%7C_cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_interferon-gamma_%20_production_%20_(GO:0032609)_%7C_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0018108)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_interferon-gamma_%20_production_%20_(GO:0032729)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|cytokine_%20_receptor_%20_activity_%20_(GO:0004896)||||true|false|0.8325_%2C_._%2C_0.1675|false|false|1||false|true|true|IL12RB2:3595|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|12142823|67773351|false|false|0|true|0|false|0.85727_%2C_6.8686e-005_%2C_0.142661|false|false|true|SNV|true|0x05010042000517053e000100|1|false|120|rs12142823|] -chr1 74671167 var_1_74671167 A ATTTC . PASS FUNCOTATION=[FPGT-TNNI3K|hg19|chr1|74671167|74671168|INTRON||INS|-|-|TTTC|g.chr1:74671167_74671168insTTTC|ENST00000370899.3|+|||c.e3+4073A>ATTTC|||0.395|ACTTGAAAAAGAGTGTGAAA|FPGT-TNNI3K_ENST00000557284.2_INTRON/FPGT_ENST00000370898.3_FRAME_SHIFT_INS_p.K492fs/FPGT_ENST00000534056.1_FRAME_SHIFT_INS_p.K225fs/FPGT_ENST00000370894.5_THREE_PRIME_UTR/FPGT-TNNI3K_ENST00000370895.1_INTRON/FPGT-TNNI3K_ENST00000370893.1_INTRON/FPGT_ENST00000609362.1_FRAME_SHIFT_INS_p.K479fs/TNNI3K_ENST00000370891.2_INTRON/FPGT_ENST00000524915.1_INTRON/FPGT-TNNI3K_ENST00000533006.1_INTRON|||||||||||||||||||||||||||||||||BX470253|NM_001199327.1|NP_001186256.2|HGNC:42952|FPGT-TNNI3K_%20_readthrough|Approved|readthrough|other|||||1p31.1|2016-10-05|||||100526835|ENSG00000259030|||403|Ankyrin_%20_repeat_%20_domain_%20_containing||OTTHUMG00000166281|100526835||NM_001112808||ENSG00000259030|uc001dge.4|||||||||||true|false||false|false|||false|false|false|FPGT-TNNI3K:100526835_%7C_FPGT:8790|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|763292758|74671167|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|true|false|DIV|true|0x050000881205040402000200|1|false|144|rs763292758|] -chr1 86841963 indel.4587 G GT . PASS FUNCOTATION=[ODF2L|hg19|chr1|86841963|86841964|FRAME_SHIFT_INS||INS|-|-|T|g.chr1:86841963_86841964insT|ENST00000370566.3|-|8|1130|c.762_763insA|c.(763-765)catfs|p.H255fs|0.2775|CTGTAAAATGGTCAAGCCTT|ODF2L_ENST00000359242.3_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000294678.2_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000317336.7_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000370567.1_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000394731.1_FRAME_SHIFT_INS_p.H124fs/ODF2L_ENST00000524695.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR591511|NM_001184766.1|NP_001171695.1|HGNC:29225|outer_%20_dense_%20_fiber_%20_of_%20_sperm_%20_tails_%20_2_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"outer_%20_dense_%20_fiber_%20_of_%20_sperm_%20_tails_%20_2-like"|KIAA1229||1p22.3|2016-04-25||2016-02-23|||57489|ENSG00000122417|10574462||||CCDS30763_%2C__%20_CCDS41354_%2C__%20_CCDS53339|OTTHUMG00000010080|57489||NM_001007022|Q9ULJ1|ENSG00000122417|uc001dlm.3|ODF2L_HUMAN||A8MU56_%7C_B4E037_%7C_Q05C40_%7C_Q5BJG5_%7C_Q5TBX3_%7C_Q5TBX4_%7C_Q86X31|Q9ULJ1||centrosome_%20_(GO:0005813)|||||true|false||false|false|||false|false|false|ODF2L:57489|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|867604743|86841963|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|147|rs867604743|] -chr1 92729242 indel.4840 A AG . PASS FUNCOTATION=[GLMN|hg19|chr1|92729242|92729243|FRAME_SHIFT_INS||INS|-|-|G|g.chr1:92729242_92729243insG|ENST00000370360.3|-|15|1429|c.1346_1347insC|c.(1345-1347)cttfs|p.L450fs|0.325|CAAATCAAGAAGGGAAATCA|GLMN_ENST00000534881.1_FRAME_SHIFT_INS_p.L436fs|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)||||Multiple_%20_Glomus_%20_Tumors_%20_(of_%20_the_%20_Skin)_%2C__%20_Familial|Multiple_%20_Familial_%20_Glomangiomas_%2C__%20_Hereditary_%20_Multiple_%20_Glomus_%20_Tumors_%2C__%20_Familial_%20_Multiple_%20_Glomangiomatosis_%2C__%20_Inherited_%20_Cutaneous_%20_Venous_%20_Anomalies_%2C__%20_incl._%20_Familial_%20_Multiple_%20_Glomangiomyoma|Familial_%20_Cancer_%20_Database|U73704|NM_053274.2|NP_444504.1|HGNC:14373|glomulin_%2C__%20_FKBP_%20_associated_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|VMGLOM|"venous_%20_malformation_%20_with_%20_glomus_%20_cells"|FAP48_%2C__%20_GLML_%2C__%20_GVM_%2C__%20_FKBPAP||1p22.1|2014-11-19||2004-07-01|U73704||11146|ENSG00000174842|8955134|NM_007070|||CCDS738|OTTHUMG00000010283|11146|601749|NM_001319683|Q92990|ENSG00000174842|uc001dor.4|GLMN_HUMAN||Q5VVC3_%7C_Q9BVE8|Q92990|muscle_%20_cell_%20_differentiation_%20_(GO:0042692)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_T_%20_cell_%20_proliferation_%20_(GO:0042130)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_positive_%20_regulation_%20_of_%20_cytokine_%20_secretion_%20_(GO:0050715)_%7C_positive_%20_regulation_%20_of_%20_interleukin-2_%20_biosynthetic_%20_process_%20_(GO:0045086)_%7C_positive_%20_regulation_%20_of_%20_phosphorylation_%20_(GO:0042327)_%7C_regulation_%20_of_%20_gene_%20_expression_%2C__%20_epigenetic_%20_(GO:0040029)_%7C_regulation_%20_of_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0032434)_%7C_vasculogenesis_%20_(GO:0001570)|Cul2-RING_%20_ubiquitin_%20_ligase_%20_complex_%20_(GO:0031462)_%7C_Cul3-RING_%20_ubiquitin_%20_ligase_%20_complex_%20_(GO:0031463)_%7C_Cul4A-RING_%20_E3_%20_ubiquitin_%20_ligase_%20_complex_%20_(GO:0031464)_%7C_cullin-RING_%20_ubiquitin_%20_ligase_%20_complex_%20_(GO:0031461)_%7C_intracellular_%20_(GO:0005622)|hepatocyte_%20_growth_%20_factor_%20_receptor_%20_binding_%20_(GO:0005171)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_ubiquitin-protein_%20_transferase_%20_inhibitor_%20_activity_%20_(GO:0055105)||||true|false||false|false|||false|false|false|GLMN:11146|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|763357116|92729242|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs763357116|] -chr1 100327026 rs2307129 C T . PASS FUNCOTATION=[AGL|hg19|chr1|100327026|100327026|INTRON||SNP|C|C|T|g.chr1:100327026C>T|ENST00000294724.4|+|||c.e3-33C>T|||0.32418952618453867|TTAAGTCCTACGATGAGTTTA|AGL_ENST00000361915.3_INTRON/AGL_ENST00000370163.3_INTRON/AGL_ENST00000370165.3_INTRON/AGL_ENST00000361522.4_DE_NOVO_START_IN_FRAME/AGL_ENST00000361302.3_INTRON/AGL_ENST00000370161.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U84011|NM_000028.2|NP_000019.2|HGNC:321|amylo-alpha-1_%2C__%20_6-glucosidase_%2C__%20_4-alpha-glucanotransferase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"amylo-1_%2C__%20_6-glucosidase_%2C__%20_4-alpha-glucanotransferase"||"glycogen_%20_debranching_%20_enzyme"_%2C__%20_"glycogen_%20_storage_%20_disease_%20_type_%20_III"|1p21.2|2016-10-05||2010-04-27|BC078663|2.4.1.25_%2C__%20_3.2.1.33|178|ENSG00000162688|1505983|NM_000028|||CCDS759_%2C__%20_CCDS760|OTTHUMG00000010803|178|610860|NM_000028|P35573|ENSG00000162688|uc001dsi.2|GDE_HUMAN||A6NCX7_%7C_A6NEK2_%7C_D3DT51_%7C_P78354_%7C_P78544_%7C_Q59H92_%7C_Q6AZ90_%7C_Q9UF08|P35573|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_glycogen_%20_biosynthetic_%20_process_%20_(GO:0005978)_%7C_glycogen_%20_catabolic_%20_process_%20_(GO:0005980)_%7C_response_%20_to_%20_glucocorticoid_%20_(GO:0051384)_%7C_response_%20_to_%20_nutrient_%20_(GO:0007584)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_inclusion_%20_body_%20_(GO:0016234)_%7C_isoamylase_%20_complex_%20_(GO:0043033)_%7C_nucleus_%20_(GO:0005634)_%7C_sarcoplasmic_%20_reticulum_%20_(GO:0016529)|4-alpha-glucanotransferase_%20_activity_%20_(GO:0004134)_%7C_amylo-alpha-1_%2C_6-glucosidase_%20_activity_%20_(GO:0004135)_%7C_glycogen_%20_debranching_%20_enzyme_%20_activity_%20_(GO:0004133)_%7C_polysaccharide_%20_binding_%20_(GO:0030247)||||true|false|0.7728_%2C_0.2272|false|false|1||false|true|true|AGL:178|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|2307129|100327026|true|false|0|true|0|false|0.729068_%2C_0.270932|false|false|true|SNV|true|0x05012848000517053f000100|1|false|100|rs2307129|] -chr1 110300600 indel.5498 C CCTGCTGGTTTT . PASS FUNCOTATION=[EPS8L3|hg19|chr1|110300600|110300601|FRAME_SHIFT_INS||INS|-|-|CTGCTGGTTTT|g.chr1:110300600_110300601insCTGCTGGTTTT|ENST00000369805.3|-|9|1031|c.800_801insAAAACCAGCAG|c.(799-801)aagfs|p.K269fs|0.58|AAATTTCTTCTTCCTGCTGG|EPS8L3_ENST00000361965.4_FRAME_SHIFT_INS_p.K268fs/EPS8L3_ENST00000361852.4_FRAME_SHIFT_INS_p.K268fs/RP4-735C1.4_ENST00000431955.1_RNA|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(12)_%7C_lung(1)_%7C_pancreas(22)|||||||BC012926|NM_139053.2|NP_620641.1|HGNC:21297|EPS8_%20_like_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"EPS8-like_%20_3"|FLJ21522_%2C__%20_MGC16817||1p13.3|2016-10-05||2016-01-20|AK025175||79574|ENSG00000198758|12620401|NM_024526|||CCDS813_%2C__%20_CCDS814_%2C__%20_CCDS815|OTTHUMG00000011651|79574|614989|NM_001319952|Q8TE67|ENSG00000198758|uc001dyq.3|ES8L3_HUMAN||A8K833_%7C_Q5T8Q6_%7C_Q5T8Q7_%7C_Q5T8Q8_%7C_Q96E47_%7C_Q9H719|Q8TE67||cytoplasm_%20_(GO:0005737)|||||true|false||false|false|||false|false|false|EPS8L3:79574_%7C_LOC101928585:101928585|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|562835845|110300600|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|DIV|true|0x050000081205040402000200|1|false|142|rs562835845|] -chr1 113010195 exm84380 T G . PASS FUNCOTATION=[WNT2B|hg19|chr1|113010195|113010195|DE_NOVO_START_OUT_FRAME||SNP|T|T|G|g.chr1:113010195T>G|ENST00000256640.5|+|1|||||0.36658354114713215|CCATAAGCATTTTTGGAATTC|WNT2B_ENST00000369686.5_MISSENSE_p.I12M|||||||||||||||||||||||||523|biliary_tract(2)_%7C_breast(186)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(134)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL354760|||HGNC:12781|Wnt_%20_family_%20_member_%20_2B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|WNT13|"wingless-type_%20_MMTV_%20_integration_%20_site_%20_family_%2C__%20_member_%20_2B"|XWNT2|"XWNT2_%2C__%20_Xenopus_%2C__%20_homolog_%20_of"_%2C__%20_"wingless-type_%20_MMTV_%20_integration_%20_site_%20_family_%2C__%20_member_%20_13"|1p13.2|2016-10-05||2016-03-18|AB045116||7482|ENSG00000134245|8761309_%2C__%20_10944466|NM_004185|360|Wnt_%20_family|CCDS847_%2C__%20_CCDS846_%2C__%20_CCDS76188|OTTHUMG00000011157|7482|601968|NM_001291880|Q93097|ENSG00000134245|uc001ecb.4|WNT2B_HUMAN||O14903_%7C_Q5TEH9_%7C_Q5TEI2_%7C_Q9HDC1_%7C_Q9HDC2|Q93097|canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0060070)_%7C_cell_%20_fate_%20_commitment_%20_(GO:0045165)_%7C_cellular_%20_response_%20_to_%20_starvation_%20_(GO:0009267)_%7C_chondrocyte_%20_differentiation_%20_(GO:0002062)_%7C_cornea_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0061303)_%7C_forebrain_%20_regionalization_%20_(GO:0021871)_%7C_hematopoietic_%20_stem_%20_cell_%20_proliferation_%20_(GO:0071425)_%7C_iris_%20_morphogenesis_%20_(GO:0061072)_%7C_lens_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0002088)_%7C_lung_%20_induction_%20_(GO:0060492)_%7C_male_%20_gonad_%20_development_%20_(GO:0008584)_%7C_mesenchymal-epithelial_%20_cell_%20_signaling_%20_(GO:0060638)_%7C_neuron_%20_differentiation_%20_(GO:0030182)_%7C_positive_%20_regulation_%20_of_%20_branching_%20_involved_%20_in_%20_ureteric_%20_bud_%20_morphogenesis_%20_(GO:0090190)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_proteinaceous_%20_extracellular_%20_matrix_%20_(GO:0005578)|frizzled_%20_binding_%20_(GO:0005109)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|WNT2B:7482|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|189656664|113010195|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|true|SNV|true|0x050000400a05040436000100|1|false|135|rs189656664|] -chr1 114447565 exm2230834 G A . PASS FUNCOTATION=[AP4B1|hg19|chr1|114447565|114447565|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:114447565G>A|ENST00000369569.1|-|1|||||0.6309226932668329|AGGCCCTACCGTCGGCCGGCA|AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME/DCLRE1B_ENST00000369563.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369566.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369567.1_FIVE_PRIME_FLANK/DCLRE1B_ENST00000466480.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC014146|NM_001253852.1|NP_001240781.1|HGNC:572|adaptor_%20_related_%20_protein_%20_complex_%20_4_%20_beta_%20_1_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SPG47|"spastic_%20_paraplegia_%20_47"_%2C__%20_"adaptor-related_%20_protein_%20_complex_%20_4_%2C__%20_beta_%20_1_%20_subunit"|BETA-4|"beta_%20_4_%20_subunit_%20_of_%20_AP-4"_%2C__%20_"AP-4_%20_complex_%20_subunit_%20_beta-1"|1p13.2|2016-01-19||2016-01-12|AF092094||10717|ENSG00000134262|10066790|NM_006594|||CCDS865_%2C__%20_CCDS76192|OTTHUMG00000011943|10717|607245|NM_001253852|Q9Y6B7|ENSG00000134262|uc001eed.4|AP4B1_HUMAN||B7Z4X3_%7C_Q59EJ4_%7C_Q96CL6|Q9Y6B7|intracellular_%20_protein_%20_transport_%20_(GO:0006886)_%7C_vesicle-mediated_%20_transport_%20_(GO:0016192)|clathrin_%20_adaptor_%20_complex_%20_(GO:0030131)_%7C_coated_%20_pit_%20_(GO:0005905)_%7C_trans-Golgi_%20_network_%20_(GO:0005802)|protein_%20_transporter_%20_activity_%20_(GO:0008565)_%7C_transporter_%20_activity_%20_(GO:0005215)||||true|false|0.6705_%2C_0.3295|false|false|1||false|true|false|DCLRE1B:64858_%7C_AP4B1:10717|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1217397|114447565|true|false|0|true|0|false|0.586304_%2C_0.413696|false|false|true|SNV|true|0x0501004a000515053f000101|1|false|87|rs1217397|] -chr1 120307172 indel.6031 A ATTGGCCTCCAGGGCCA . PASS FUNCOTATION=[HMGCS2|hg19|chr1|120307172|120307173|FRAME_SHIFT_INS||INS|-|-|TTGGCCTCCAGGGCCA|g.chr1:120307172_120307173insTTGGCCTCCAGGGCCA|ENST00000369406.3|-|2|232|c.181_182insTGGCCCTGGAGGCCAA|c.(181-183)gtcfs|p.Y62fs|0.4875|GGGAAGTAGACCTCCAGGGC|HMGCS2_ENST00000544913.2_FRAME_SHIFT_INS_p.Y62fs/HMGCS2_ENST00000476640.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X83618|NM_005518.3|NP_005509.1|HGNC:5008|3-hydroxy-3-methylglutaryl-CoA_%20_synthase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"3-hydroxy-3-methylglutaryl-Coenzyme_%20_A_%20_synthase_%20_2_%20_(mitochondrial)"_%2C__%20_"3-hydroxy-3-methylglutaryl-CoA_%20_synthase_%20_2_%20_(mitochondrial)"|||1p12|2017-03-24||2016-01-21|BC044217|2.3.3.10|3158|ENSG00000134240|7851882_%2C__%20_7893153|NM_005518|||CCDS905_%2C__%20_CCDS53353|OTTHUMG00000012101|3158|600234|NM_001166107|P54868|ENSG00000134240|uc001eid.4|HMCS2_HUMAN||B7Z8R3_%7C_D3Y5K6_%7C_Q5SZU2_%7C_Q6IBF4|P54868|cellular_%20_ketone_%20_body_%20_metabolic_%20_process_%20_(GO:0046950)_%7C_cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_cholesterol_%20_biosynthetic_%20_process_%20_(GO:0006695)_%7C_isoprenoid_%20_biosynthetic_%20_process_%20_(GO:0008299)_%7C_ketone_%20_body_%20_biosynthetic_%20_process_%20_(GO:0046951)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_mitochondrion_%20_(GO:0005739)|hydroxymethylglutaryl-CoA_%20_synthase_%20_activity_%20_(GO:0004421)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 156571202 exm109653 G A . PASS FUNCOTATION=[GPATCH4|hg19|chr1|156571202|156571202|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:156571202G>A|ENST00000438976.2|-|1|61|c.30C>T|c.(28-30)gaC>gaT|p.D10D|0.5610972568578554|GCCCCTTACCGTCATTGCTGG|GPATCH4_ENST00000368232.4_DE_NOVO_START_OUT_FRAME/GPATCH4_ENST00000334588.7_DE_NOVO_START_OUT_FRAME/GPATCH4_ENST00000497287.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL365181|||HGNC:25982|G-patch_%20_domain_%20_containing_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GPATC4||FLJ20249_%2C__%20_DKFZP434F1735||1q22-q23.1|2017-06-08|2006-12-13|2015-11-13|BC056904||54865|ENSG00000160818|12477932|NM_017725|579|G-patch_%20_domain_%20_containing|CCDS1146_%2C__%20_CCDS44245|OTTHUMG00000033203|54865||NM_015590|Q5T3I0|ENSG00000160818|uc001fpl.4|GPTC4_HUMAN||Q5T3I1_%7C_Q6ZUE7_%7C_Q8IWG8_%7C_Q9NXH4|Q5T3I0|||poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||true|false||false|false|||false|false|false|GPATCH4:54865|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|202090190|156571202|false|false|0|false|0|true|0.999279_%2C_0.000721203|false|false|true|SNV|true|0x050000400305040402000100|1|false|137|rs202090190|] -chr1 171154418 rs28369797 C T . PASS FUNCOTATION=[FMO2|hg19|chr1|171154418|171154418|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:171154418C>T|ENST00000209929.7|+|1|||||0.43640897755610975|CTCTTAAAAACGCTTCCAACT|FMO2_ENST00000441535.1_DE_NOVO_START_OUT_FRAME/FMO2_ENST00000529935.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Y09267|||HGNC:3770|flavin_%20_containing_%20_monooxygenase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"flavin_%20_containing_%20_monooxygenase_%20_2_%20_(non-functional)"|||1q24.3|2016-04-25||2015-11-04|BC005894||2327|ENSG00000094963|1417778_%2C__%20_9804831|NM_001460|||CCDS1293|OTTHUMG00000035504|2327|603955|NM_001301347|Q99518|ENSG00000094963|uc057ngi.1|FMO4_HUMAN||Q53XR0|P31512|drug_%20_catabolic_%20_process_%20_(GO:0042737)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|flavin_%20_adenine_%20_dinucleotide_%20_binding_%20_(GO:0050660)_%7C_N_%2C_N-dimethylaniline_%20_monooxygenase_%20_activity_%20_(GO:0004499)_%7C_NADP_%20_binding_%20_(GO:0050661)||||true|false|0.9882_%2C_._%2C_0.01178|false|false|1||false|true|false|FMO2:2327|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28369797|171154418|false|false|0|true|0|false|0.993028_%2C_._%2C_0.00697163|true|false|true|SNV|true|0x050110400005150537000100|1|false|125|rs28369797|] -chr1 209932121 rs10489341 C T . PASS FUNCOTATION=[TRAF3IP3|hg19|chr1|209932121|209932121|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:209932121C>T|ENST00000367024.1|+|1|||||0.5236907730673317|GAATTTCCAACGCTCAGGATC|TRAF3IP3_ENST00000367025.3_INTRON/TRAF3IP3_ENST00000367026.3_INTRON/TRAF3IP3_ENST00000400959.3_INTRON/TRAF3IP3_ENST00000010338.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||247|biliary_tract(2)_%7C_breast(49)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471100|||HGNC:30766|TRAF3_%20_interacting_%20_protein_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||T3JAM|"TRAF3_%20_interacting_%20_Jun_%20_N_%20_terminal_%20_kinase_%20_(JNK)_%20_activating_%20_modulator"|1q32.2|2016-10-05|||||80342|ENSG00000009790|14572659||||CCDS1490_%2C__%20_CCDS73023_%2C__%20_CCDS81422|OTTHUMG00000036480|80342|608255|NM_001287754|Q9Y228|ENSG00000009790|uc001hho.5|T3JAM_HUMAN||A1L464_%7C_A6NIU9_%7C_Q2YDB5_%7C_Q4VY06_%7C_Q7Z706|Q9Y228||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.8838_%2C_0.1162|false|false|1||false|true|false|TRAF3IP3:80342|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|10489341|209932121|false|false|0|true|0|false|0.849876_%2C_0.150124|false|false|true|SNV|true|0x05012848000515053f000100|1|false|119|rs10489341|] -chr1 228296020 variant.10429 C A . PASS FUNCOTATION=[MRPL55|hg19|chr1|228296020|228296020|DE_NOVO_START_IN_FRAME||SNP|C|C|A|g.chr1:228296020C>A|ENST00000366735.1|-|1|||||0.5286783042394015|GGCGTGCAACCTGCTAGGCAG|MRPL55_ENST00000366734.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366740.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366742.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000411464.2_SPLICE_SITE/MRPL55_ENST00000366733.1_SPLICE_SITE/MRPL55_ENST00000336520.3_SPLICE_SITE/MRPL55_ENST00000366744.1_SPLICE_SITE/MRPL55_ENST00000336300.5_SPLICE_SITE/MRPL55_ENST00000348259.5_SPLICE_SITE/MRPL55_ENST00000366736.1_SPLICE_SITE/MRPL55_ENST00000366739.1_SPLICE_SITE/MRPL55_ENST00000295008.4_SPLICE_SITE/MRPL55_ENST00000366741.1_SPLICE_SITE/MRPL55_ENST00000366747.3_SPLICE_SITE/MRPL55_ENST00000366746.3_SPLICE_SITE/MRPL55_ENST00000366732.1_SPLICE_SITE/MRPL55_ENST00000366738.1_SPLICE_SITE/MRPL55_ENST00000391867.3_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366731.5_SPLICE_SITE/MRPL55_ENST00000430433.1_SPLICE_SITE/C1orf35_ENST00000272139.4_FIVE_PRIME_FLANK/MRPL55_ENST00000465397.1_SPLICE_SITE/C1orf35_ENST00000472617.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC052806|||HGNC:16686|mitochondrial_%20_ribosomal_%20_protein_%20_L55|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q42.13|2015-08-25|||AK056987||128308|ENSG00000162910||XM_059233|646|Mitochondrial_%20_ribosomal_%20_proteins|CCDS1567_%2C__%20_CCDS44325|OTTHUMG00000037965|128308|611859|NM_001321284|Q7Z7F7|ENSG00000162910|uc001hsa.5|RM55_HUMAN||Q5TBY3_%7C_Q5TBY6_%7C_Q6UWI8|Q7Z7F7|translation_%20_(GO:0006412)|mitochondrial_%20_large_%20_ribosomal_%20_subunit_%20_(GO:0005762)|structural_%20_constituent_%20_of_%20_ribosome_%20_(GO:0003735)||||true|true||false|false|||false|false|false|MRPL55:128308|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|868542799|228296020|false|false|0|false|0|false|0.999931_%2C_6.86908e-005|false|false|true|SNV|false|0x050000600005000402000100|1|false|147|rs868542799|] -chr2 3519739 rs6422709 C A . PASS FUNCOTATION=[ADI1|hg19|chr2|3519739|3519739|INTRON||SNP|C|C|A|g.chr2:3519739C>A|ENST00000327435.6|-|||c.e2+1992G>T|||0.38154613466334164|AAAACTTAGCCTATCCACTGC|ADI1_ENST00000382093.5_DE_NOVO_START_OUT_FRAME/AC142528.1_ENST00000450917.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471053|NM_018269.3|NP_060739.2|HGNC:30576|acireductone_%20_dioxygenase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SIPL_%2C__%20_MTCBP-1_%2C__%20_ARD_%2C__%20_APL1_%2C__%20_FLJ10913_%2C__%20_HMFT1638_%2C__%20_mtnD|"membrane-type_%20_1_%20_matrix_%20_metalloproteinase_%20_cytoplasmic_%20_tail_%20_binding_%20_protein-1"|2p25.3|2016-10-05||||1.13.11.54|55256|ENSG00000182551|14718544_%2C__%20_15938715|NM_018269|||CCDS1653_%2C__%20_CCDS77380|OTTHUMG00000112441|55256|613400|NM_001306077|Q9BV57|ENSG00000182551|uc002qxp.5|||||||||||true|false|0.8101_%2C_0.1899|false|false|1||false|true|true|ADI1:55256|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6422709|3519739|false|false|0|true|0|false|0.805468_%2C_0.194532|false|false|true|SNV|true|0x05010048000517053f000100|1|false|116|rs6422709|] -chr2 27603003 exm181213 G A . PASS FUNCOTATION=[ZNF513|hg19|chr2|27603003|27603003|SILENT||SNP|G|G|A|g.chr2:27603003G>A|ENST00000323703.6|-|2|367|c.168C>T|c.(166-168)gaC>gaT|p.D56D|0.5461346633416458|CACTGTTGCCGTCGCCTTCCT|ZNF513_ENST00000407879.1_DE_NOVO_START_OUT_FRAME/ZNF513_ENST00000491924.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471053|NM_144631.5|NP_653232.3|HGNC:26498|zinc_%20_finger_%20_protein_%20_513|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32203_%2C__%20_RP58||2p23.3|2015-08-27|||AL833946||130557|ENSG00000163795|20797688|NM_144631|28|Zinc_%20_fingers_%20_C2H2-type|CCDS1751_%2C__%20_CCDS56114|OTTHUMG00000097783|130557|613598|NM_001201459|Q8N8E2|ENSG00000163795|uc002rkk.4|ZN513_HUMAN||A8K3S5_%7C_B7WP71_%7C_Q3ZCU1_%7C_Q68CJ1_%7C_Q86UZ3_%7C_Q8NDL8_%7C_Q96ML3|Q8N8E2|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_visual_%20_perception_%20_(GO:0007601)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_transcription_%20_regulatory_%20_region_%20_DNA_%20_binding_%20_(GO:0044212)||||true|false|0.9998_%2C_0.0001997_%2C_.|false|false|0||false|false|false|ZNF513:130557|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|144091327|27603003|false|false|0|false|0|true|0.999519_%2C_0.000480835_%2C_.|false|false|true|SNV|true|0x050000420b05040436000100|1|false|134|rs144091327|] -chr2 36818090 exm186382 T C . PASS FUNCOTATION=[FEZ2|hg19|chr2|36818090|36818090|MISSENSE||SNP|T|T|C|g.chr2:36818090T>C|ENST00000379245.4|-|2|380|c.331A>G|c.(331-333)Act>Gct|p.T111A|0.371571072319202|AAGGTCCTAGTATGCGATGAC|FEZ2_ENST00000405912.3_MISSENSE_p.T111A/FEZ2_ENST00000305852.7_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||22|central_nervous_system(22)|||||||U69140|NM_001042548.1|NP_001036013.1|HGNC:3660|fasciculation_%20_and_%20_elongation_%20_protein_%20_zeta_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||||"zygin_%20_II"|2p22.2|2016-10-05||2016-01-12|U60061||9637|ENSG00000171055|9096408||||CCDS46257_%2C__%20_CCDS46258|OTTHUMG00000152148|9637|604826|NM_001042548|Q9UHY8|ENSG00000171055|uc002rpg.3|FEZ2_HUMAN||Q5EBN3_%7C_Q76LN0_%7C_Q99690|Q9UHY8|axon_%20_guidance_%20_(GO:0007411)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_signal_%20_transduction_%20_(GO:0007165)||||||true|false|0.9992_%2C_0.0007987|false|false|0||false|false|false|FEZ2:9637|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|35730082|36818090|true|false|0|true|0|false|0.999622_%2C_0.000377799|false|false|false|SNV|true|0x050100000a05040536000100|1|false|126|rs35730082|] -chr2 169926086 rs11889286 C T . PASS FUNCOTATION=[DHRS9|hg19|chr2|169926086|169926086|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr2:169926086C>T|ENST00000357546.2|+|2|||||0.4239401496259352|CAGAGCTCTACGGAAACCCAG|DHRS9_ENST00000428522.1_DE_NOVO_START_OUT_FRAME/DHRS9_ENST00000327239.4_INTRON/DHRS9_ENST00000602501.1_INTRON/DHRS9_ENST00000421653.1_DE_NOVO_START_OUT_FRAME/DHRS9_ENST00000432060.2_INTRON/DHRS9_ENST00000436483.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471058|NM_199204.1|NP_954674.1|HGNC:16888|dehydrogenase/reductase_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dehydrogenase/reductase_%20_(SDR_%20_family)_%20_member_%20_9"|RDHL_%2C__%20_3alpha-HSD_%2C__%20_RETSDR8_%2C__%20_RDH15_%2C__%20_SDR9C4|"NADP-dependent_%20_retinol_%20_dehydrogenase/reductase"_%2C__%20_"3-alpha_%20_hydroxysteroid_%20_dehydrogenase"_%2C__%20_"retinol_%20_dehydrogenase_%20_homolog"_%2C__%20_"short_%20_chain_%20_dehydrogenase/reductase_%20_family_%20_9C_%2C__%20_member_%20_4"|2q31.1|2016-05-27||2016-05-27|AF067174||10170|ENSG00000073737|11304534_%2C__%20_11294878_%2C__%20_19027726|NM_005771|743|Short_%20_chain_%20_dehydrogenase/reductase_%20_superfamily|CCDS2231_%2C__%20_CCDS74600|OTTHUMG00000132180|10170|612131|NM_001142270|Q9BPW9|ENSG00000073737|uc061phg.1|DHRS9_HUMAN||B7Z416_%7C_D3DPC1_%7C_Q5RKX1_%7C_Q9NRA9_%7C_Q9NRB0|Q9BPW9|9-cis-retinoic_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0042904)_%7C_androgen_%20_metabolic_%20_process_%20_(GO:0008209)_%7C_epithelial_%20_cell_%20_differentiation_%20_(GO:0030855)_%7C_progesterone_%20_metabolic_%20_process_%20_(GO:0042448)_%7C_retinol_%20_metabolic_%20_process_%20_(GO:0042572)|integral_%20_component_%20_of_%20_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0030176)|alcohol_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004022)_%7C_racemase_%20_and_%20_epimerase_%20_activity_%20_(GO:0016854)_%7C_retinol_%20_dehydrogenase_%20_activity_%20_(GO:0004745)_%7C_testosterone_%20_dehydrogenase_%20_(NAD+)_%20_activity_%20_(GO:0047035)||||true|false|0.9786_%2C_0.02137|false|false|1||false|true|false|DHRS9:10170|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11889286|169926086|false|false|0|true|0|false|0.971118_%2C_0.0288825|false|false|true|SNV|true|0x05010048000515053f000100|1|false|120|rs11889286|] -chr2 187487140 indel.64390 A ACCT . PASS FUNCOTATION=[ITGAV|hg19|chr2|187487140|187487141|IN_FRAME_INS||INS|-|-|CCT|g.chr2:187487140_187487141insCCT|ENST00000261023.3|+|3|665|c.391_392insCCT|c.(391-393)aaa>aCCTaa|p.K131T*|0.3675|GTGAGGTCGAAACAGGATAA|ITGAV_ENST00000374907.3_IN_FRAME_INS_p.K131T*/ITGAV_ENST00000433736.2_IN_FRAME_INS_p.K85T*|Melanoma(58_%3B_108_%20_1995_%20_6081)||||||||||||||||||||||||274|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(12)_%7C_lung(2)_%7C_pancreas(22)_%7C_soft_tissue(1)|||||||U07375|NM_002210.4|NP_002201.1|HGNC:6150|integrin_%20_subunit_%20_alpha_%20_V|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|VNRA_%2C__%20_MSK8_%2C__%20_VTNR|"antigen_%20_identified_%20_by_%20_monoclonal_%20_antibody_%20_L230"_%2C__%20_"vitronectin_%20_receptor"_%2C__%20_"integrin_%2C__%20_alpha_%20_V_%20_(vitronectin_%20_receptor_%2C__%20_alpha_%20_polypeptide_%2C__%20_antigen_%20_CD51)"_%2C__%20_"integrin_%2C__%20_alpha_%20_V"|CD51||2q32.1|2016-10-05||2015-12-15|||3685|ENSG00000138448|2454952|NM_002210|1160_%7C_471|Integrin_%20_alpha_%20_subunits_%7C_CD_%20_molecules|CCDS2292_%2C__%20_CCDS46470_%2C__%20_CCDS46471|OTTHUMG00000132635|3685|193210|NM_001144999|P06756|ENSG00000138448|uc002upq.5|ITAV_HUMAN|Antithymocyte_%20_globulin(DB00098)|A0AV67_%7C_B0LPF4_%7C_B7Z883_%7C_B7ZLX0_%7C_D3DPG8_%7C_E7EWZ6_%7C_Q53SK4_%7C_Q59EB7_%7C_Q6LD15|P06756|angiogenesis_%20_(GO:0001525)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_(GO:0042590)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%2C__%20_TAP-dependent_%20_(GO:0002479)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_(GO:0002474)_%7C_apolipoprotein_%20_A-I-mediated_%20_signaling_%20_pathway_%20_(GO:0038027)_%7C_apoptotic_%20_cell_%20_clearance_%20_(GO:0043277)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_calcium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0070588)_%7C_cell_%20_adhesion_%20_(GO:0007155)_%7C_cell_%20_growth_%20_(GO:0016049)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_cell-matrix_%20_adhesion_%20_(GO:0007160)_%7C_cell-substrate_%20_adhesion_%20_(GO:0031589)_%7C_endodermal_%20_cell_%20_differentiation_%20_(GO:0035987)_%7C_entry_%20_of_%20_symbiont_%20_into_%20_host_%20_cell_%20_by_%20_promotion_%20_of_%20_host_%20_phagocytosis_%20_(GO:0052066)_%7C_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070371)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_absence_%20_of_%20_ligand_%20_(GO:0097192)_%7C_heterotypic_%20_cell-cell_%20_adhesion_%20_(GO:0034113)_%7C_integrin-mediated_%20_signaling_%20_pathway_%20_(GO:0007229)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_chemotaxis_%20_(GO:0050919)_%7C_negative_%20_regulation_%20_of_%20_entry_%20_of_%20_bacterium_%20_into_%20_host_%20_cell_%20_(GO:2000536)_%7C_negative_%20_regulation_%20_of_%20_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001237)_%7C_negative_%20_regulation_%20_of_%20_lipid_%20_storage_%20_(GO:0010888)_%7C_negative_%20_regulation_%20_of_%20_lipid_%20_transport_%20_(GO:0032369)_%7C_negative_%20_regulation_%20_of_%20_lipoprotein_%20_metabolic_%20_process_%20_(GO:0050748)_%7C_negative_%20_regulation_%20_of_%20_low-density_%20_lipoprotein_%20_particle_%20_receptor_%20_biosynthetic_%20_process_%20_(GO:0045715)_%7C_negative_%20_regulation_%20_of_%20_macrophage_%20_derived_%20_foam_%20_cell_%20_differentiation_%20_(GO:0010745)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_adhesion_%20_(GO:0045785)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_migration_%20_(GO:0030335)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_osteoblast_%20_proliferation_%20_(GO:0033690)_%7C_regulation_%20_of_%20_apoptotic_%20_cell_%20_clearance_%20_(GO:2000425)_%7C_regulation_%20_of_%20_phagocytosis_%20_(GO:0050764)_%7C_substrate_%20_adhesion-dependent_%20_cell_%20_spreading_%20_(GO:0034446)_%7C_viral_%20_entry_%20_into_%20_host_%20_cell_%20_(GO:0046718)|alphav-beta3_%20_integrin-IGF-1-IGF1R_%20_complex_%20_(GO:0035867)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_filopodium_%20_membrane_%20_(GO:0031527)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_integrin_%20_alphav-beta3_%20_complex_%20_(GO:0034683)_%7C_integrin_%20_alphav-beta5_%20_complex_%20_(GO:0034684)_%7C_integrin_%20_alphav-beta8_%20_complex_%20_(GO:0034686)_%7C_integrin_%20_complex_%20_(GO:0008305)_%7C_lamellipodium_%20_membrane_%20_(GO:0031258)_%7C_membrane_%20_(GO:0016020)_%7C_microvillus_%20_membrane_%20_(GO:0031528)_%7C_phagocytic_%20_vesicle_%20_(GO:0045335)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_ruffle_%20_membrane_%20_(GO:0032587)|extracellular_%20_matrix_%20_binding_%20_(GO:0050840)_%7C_extracellular_%20_matrix_%20_protein_%20_binding_%20_(GO:1990430)_%7C_fibronectin_%20_binding_%20_(GO:0001968)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_protease_%20_binding_%20_(GO:0002020)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_binding_%20_(GO:0050431)_%7C_virus_%20_receptor_%20_activity_%20_(GO:0001618)_%7C_voltage-gated_%20_calcium_%20_channel_%20_activity_%20_(GO:0005245)||||true|false||false|false|||false|false|false|ITGAV:3685|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|762770151|187487140|false|false|0|false|0|false||false|false|false|DIV|false|0x050000000005000402000200|1|false|144|rs762770151|] -chr2 220462640 exm269819 G T . PASS FUNCOTATION=[STK11IP|hg19|chr2|220462640|220462640|DE_NOVO_START_IN_FRAME||SNP|G|G|T|g.chr2:220462640G>T|ENST00000456909.1|+|1|||||0.6209476309226932|CAGACGGGGAGGTTCGGTATG|STK11IP_ENST00000295641.10_MISSENSE_p.R1M/STK11IP_ENST00000459692.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||149|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(70)_%7C_pancreas(22)|||||||AC009955|||HGNC:19184|serine/threonine_%20_kinase_%20_11_%20_interacting_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||LIP1_%2C__%20_KIAA1898_%2C__%20_LKB1IP_%2C__%20_STK11IP1|"LKB1_%20_interacting_%20_protein"|2q35|2014-11-19|||AF450267||114790|ENSG00000144589|11741830|NM_052902|||CCDS46521|OTTHUMG00000059239|114790|607172|NM_052902|Q8N1F8|ENSG00000144589|uc002vml.3|S11IP_HUMAN||Q8NAW9_%7C_Q8WXE4_%7C_Q96CN3_%7C_Q96PY9|Q8N1F8|protein_%20_localization_%20_(GO:0008104)|cytoplasm_%20_(GO:0005737)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)|protein_%20_kinase_%20_binding_%20_(GO:0019901)||||true|false|0.1667_%2C_0.8333|false|false|1||false|true|false|STK11IP:114790|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|681747|220462640|false|false|0|true|0|false|0.236589_%2C_0.763411|false|false|true|SNV|true|0x05010040000515053f000101|1|false|83|rs681747|] -chr2 238667455 indel.66367 G GTAA . PASS FUNCOTATION=[LRRFIP1|hg19|chr2|238667455|238667456|IN_FRAME_INS||INS|-|-|TAA|g.chr2:238667455_238667456insTAA|ENST00000308482.9|+|18|1377|c.1308_1309insTAA|c.(1309-1311)gaa>TAAgaa|p.436_437ins*|0.3775|GCTGAAAGAGGAATTAAAGG|LRRFIP1_ENST00000244815.5_INTRON/LRRFIP1_ENST00000289175.6_INTRON/LRRFIP1_ENST00000392000.4_INTRON|||||||||||||||||||||||||253|biliary_tract(2)_%7C_breast(148)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||U69609|NM_001137550.1|NP_001131022.1|HGNC:6702|LRR_%20_binding_%20_FLII_%20_interacting_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"leucine_%20_rich_%20_repeat_%20_(in_%20_FLII)_%20_interacting_%20_protein_%20_1"|FLAP-1_%2C__%20_FLIIAP1_%2C__%20_TRIP_%2C__%20_GCF-2_%2C__%20_HUFI-1|"GC-binding_%20_factor_%20_2"|2q37.3|2016-06-20||2016-06-20|AJ223075||9208|ENSG00000124831|9705290_%2C__%20_9525888_%2C__%20_16199883|NM_004735|||CCDS2521_%2C__%20_CCDS46551_%2C__%20_CCDS46552_%2C__%20_CCDS46553|OTTHUMG00000133339|9208|603256|NM_001137550|Q32MZ4|ENSG00000124831|uc002vxd.4|LRRF1_HUMAN||E9PGZ2_%7C_O75766_%7C_O75799_%7C_Q32MZ5_%7C_Q53T49_%7C_Q6PKG2_%7C_Q9Y607|Q32MZ4|innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_positive_%20_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032481)_%7C_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006357)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|DNA_%20_binding_%20_(GO:0003677)_%7C_double-stranded_%20_RNA_%20_binding_%20_(GO:0003725)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||true|false||false|false|||false|false|false|LRRFIP1:9208|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|752147133|238667455|false|false|0|false|0|false||false|false|false|DIV|false|0x050000080005000402000200|1|false|144|rs752147133|] -chr3 57743569 exm325975 C T . PASS FUNCOTATION=[SLMAP|hg19|chr3|57743569|57743569|MISSENSE||SNP|C|C|T|g.chr3:57743569C>T|ENST00000295951.3|+|2|1408|c.191C>T|c.(190-192)aCg>aTg|p.T64M|0.5112219451371571|GATCACAAGACGGGCAAGGTA|SLMAP_ENST00000383718.3_MISSENSE_p.T64M/SLMAP_ENST00000428312.1_MISSENSE_p.T64M/SLMAP_ENST00000449503.2_MISSENSE_p.T64M/SLMAP_ENST00000295952.3_MISSENSE_p.T64M/SLMAP_ENST00000416870.1_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR627321|||HGNC:16643|sarcolemma_%20_associated_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SLAP_%2C__%20_KIAA1601|"Sarcolemmal-associated_%20_protein"|3p14.3|2016-10-05|||AF100750||7871|ENSG00000163681|9405447_%2C__%20_11042152|NM_007159|1371|STRIPAK_%20_complex|CCDS33774_%2C__%20_CCDS77757_%2C__%20_CCDS77758_%2C__%20_CCDS77759|OTTHUMG00000133764|7871|602701|NM_001304420|Q14BN4|ENSG00000163681|uc062kya.1|SLMAP_HUMAN||Q14C95_%7C_Q6AI54_%7C_Q6UXC9_%7C_Q6ZVQ8_%7C_Q8NCW9_%7C_Q9H297_%7C_Q9HCH1_%7C_Q9Y681|Q14BN4|muscle_%20_contraction_%20_(GO:0006936)|cytoskeleton_%20_(GO:0005856)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_smooth_%20_endoplasmic_%20_reticulum_%20_(GO:0005790)|||||true|false||false|false|||false|false|false|SLMAP:7871|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149291683|57743569|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs149291683|] -chr3 178936088 . A AGGT . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936088|178936089|IN_FRAME_INS||INS|-|-|GGT|g.chr3:178936088_178936089insGGT|ENST00000263967.3|+|10|1787|c.1630_1631insGGT|c.(1630-1632)act>aGGTct|p.T544RS|0.3|TCTGAAATCACTGAGCAGGA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis||||||||||||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936088 . A AGGTGCT . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936088|178936089|IN_FRAME_INS||INS|-|-|GGTGCT|g.chr3:178936088_178936089insGGTGCT|ENST00000263967.3|+|10|1787|c.1630_1631insGGTGCT|c.(1630-1632)act>aGGTGCTct|p.T544RCS|0.3|TCTGAAATCACTGAGCAGGA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis||||||||||||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936089 . C CG . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936089|178936090|FRAME_SHIFT_INS||INS|-|-|G|g.chr3:178936089_178936090insG|ENST00000263967.3|+|10|1788|c.1631_1632insG|c.(1630-1632)actfs|p.E545fs|0.3|CTGAAATCACTGAGCAGGAG||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936089 . C CGT . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936089|178936090|FRAME_SHIFT_INS||INS|-|-|GT|g.chr3:178936089_178936090insGT|ENST00000263967.3|+|10|1788|c.1631_1632insGT|c.(1630-1632)actfs|p.E545fs|0.3|CTGAAATCACTGAGCAGGAG||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936089 . C CGTC . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936089|178936090|IN_FRAME_INS||INS|-|-|GTC|g.chr3:178936089_178936090insGTC|ENST00000263967.3|+|10|1788|c.1631_1632insGTC|c.(1630-1632)act>acGTCt|p.544_545insS|0.3|CTGAAATCACTGAGCAGGAG||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis||||||||||||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936089 . C CGTCG . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936089|178936090|FRAME_SHIFT_INS||INS|-|-|GTCG|g.chr3:178936089_178936090insGTCG|ENST00000263967.3|+|10|1788|c.1631_1632insGTCG|c.(1630-1632)actfs|p.E545fs|0.3|CTGAAATCACTGAGCAGGAG||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936089 . CT C . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936090|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr3:178936090delT|ENST00000263967.3|+|10|1788|c.1632delT|c.(1630-1632)actfs|p.E545fs|0.29925187032418954|CTGAAATCACTGAGCAGGAGA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936089 . CTG C . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936091|FRAME_SHIFT_DEL||DEL|TG|TG|-|g.chr3:178936090_178936091delTG|ENST00000263967.3|+|10|1788_1789|c.1632_1633delTG|c.(1630-1635)actgagfs|p.E545fs|0.29850746268656714|CTGAAATCACTGAGCAGGAGAA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936089 . CTGA C . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936092|IN_FRAME_DEL||DEL|TGA|TGA|-|g.chr3:178936090_178936092delTGA|ENST00000263967.3|+|10|1788_1790|c.1632_1634delTGA|c.(1630-1635)actgag>acg|p.E545del|0.2977667493796526|CTGAAATCACTGAGCAGGAGAAA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936089 . CTGAG C . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936093|FRAME_SHIFT_DEL||DEL|TGAG|TGAG|-|g.chr3:178936090_178936093delTGAG|ENST00000263967.3|+|10|1788_1791|c.1632_1635delTGAG|c.(1630-1635)actgagfs|p.E545fs|0.2995049504950495|CTGAAATCACTGAGCAGGAGAAAG||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936089 . CTGAGCA C . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936095|IN_FRAME_DEL||DEL|TGAGCA|TGAGCA|-|g.chr3:178936090_178936095delTGAGCA|ENST00000263967.3|+|10|1788_1793|c.1632_1637delTGAGCA|c.(1630-1638)actgagcag>acg|p.EQ545del|0.29802955665024633|CTGAAATCACTGAGCAGGAGAAAGAT||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(1)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936089 . CTGAGCAGGA C . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936098|IN_FRAME_DEL||DEL|TGAGCAGGA|TGAGCAGGA|-|g.chr3:178936090_178936098delTGAGCAGGA|ENST00000263967.3|+|10|1788_1796|c.1632_1640delTGAGCAGGA|c.(1630-1641)actgagcaggag>acg|p.EQE545del|0.29584352078239606|CTGAAATCACTGAGCAGGAGAAAGATTTT||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(1)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936089 . CTGAGC CGTCCA . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936089|178936094|MISSENSE||ONP|CTGAGC|CTGAGC|CGTCCA|g.chr3:178936089_178936094CTGAGC>CGTCCA|ENST00000263967.3|+|10|1788_1793|c.1631_1636CTGAGC>CGTCCA|c.(1630-1638)acTGAGCag>acGTCCAag|p.545_546EQ>SK|0.29802955665024633|TCTGAAATCACTGAGCAGGAGAAAGA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(1)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936090 . T TA . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936091|FRAME_SHIFT_INS||INS|-|-|A|g.chr3:178936090_178936091insA|ENST00000263967.3|+|10|1789|c.1632_1633insA|c.(1633-1635)gagfs|p.E545fs|0.3|TGAAATCACTGAGCAGGAGA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936090 . T TAT . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936091|FRAME_SHIFT_INS||INS|-|-|AT|g.chr3:178936090_178936091insAT|ENST00000263967.3|+|10|1789|c.1632_1633insAT|c.(1633-1635)gagfs|p.E545fs|0.3|TGAAATCACTGAGCAGGAGA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936090 . T TATT . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936091|IN_FRAME_INS||INS|-|-|ATT|g.chr3:178936090_178936091insATT|ENST00000263967.3|+|10|1789|c.1632_1633insATT|c.(1633-1635)gag>ATTgag|p.544_545insI|0.3|TGAAATCACTGAGCAGGAGA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis||||||||||||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936090 . T TATTG . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936091|FRAME_SHIFT_INS||INS|-|-|ATTG|g.chr3:178936090_178936091insATTG|ENST00000263967.3|+|10|1789|c.1632_1633insATTG|c.(1633-1635)gagfs|p.E545fs|0.3|TGAAATCACTGAGCAGGAGA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936090 . TG T . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936091|178936091|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr3:178936091delG|ENST00000263967.3|+|10|1789|c.1633delG|c.(1633-1635)gagfs|p.E545fs|0.29925187032418954|TGAAATCACTGAGCAGGAGAA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936090 . TGA T . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936091|178936092|FRAME_SHIFT_DEL||DEL|GA|GA|-|g.chr3:178936091_178936092delGA|ENST00000263967.3|+|10|1789_1790|c.1633_1634delGA|c.(1633-1635)gagfs|p.E545fs|0.29850746268656714|TGAAATCACTGAGCAGGAGAAA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936090 . TGAG T . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936091|178936093|IN_FRAME_DEL||DEL|GAG|GAG|-|g.chr3:178936091_178936093delGAG|ENST00000263967.3|+|10|1789_1791|c.1633_1635delGAG|c.(1633-1635)gagdel|p.E545del|0.3002481389578164|TGAAATCACTGAGCAGGAGAAAG||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936090 . TGAGC T . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936091|178936094|FRAME_SHIFT_DEL||DEL|GAGC|GAGC|-|g.chr3:178936091_178936094delGAGC|ENST00000263967.3|+|10|1789_1792|c.1633_1636delGAGC|c.(1633-1638)gagcagfs|p.E545fs|0.2995049504950495|TGAAATCACTGAGCAGGAGAAAGA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936090 . TGAGCAG T . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936091|178936096|IN_FRAME_DEL||DEL|GAGCAG|GAGCAG|-|g.chr3:178936091_178936096delGAGCAG|ENST00000263967.3|+|10|1789_1794|c.1633_1638delGAGCAG|c.(1633-1638)gagcagdel|p.EQ545del|0.29802955665024633|TGAAATCACTGAGCAGGAGAAAGATT||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(1)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936090 . T TGAG . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936091|IN_FRAME_INS||INS|-|-|GAG|g.chr3:178936090_178936091insGAG|ENST00000263967.3|+|10|1789|c.1632_1633insGAG|c.(1633-1635)gag>GAGgag|p.544_545insE|0.3|TGAAATCACTGAGCAGGAGA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis||||||||||||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr3 178936090 . T TGAGC . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936091|FRAME_SHIFT_INS||INS|-|-|GAGC|g.chr3:178936090_178936091insGAGC|ENST00000263967.3|+|10|1789|c.1632_1633insGAGC|c.(1633-1635)gagfs|p.Q546fs|0.3|TGAAATCACTGAGCAGGAGA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis||||||||||||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr4 82126215 var_4_82126215 C A . PASS FUNCOTATION=[PRKG2|hg19|chr4|82126215|82126215|SPLICE_SITE|INTRON|SNP|C|C|A|g.chr4:82126215C>A|ENST00000395578.1|-|||c.e2+1G>T|c.e2-1||0.4513715710723192|GCTCAGGGACCTGAGAAGGCA|PRKG2_ENST00000264399.1_DE_NOVO_START_IN_FRAME/PRKG2_ENST00000418486.2_SPLICE_SITE|||||||||||||||||||||||||804|biliary_tract(2)_%7C_breast(27)_%7C_central_nervous_system(60)_%7C_haematopoietic_and_lymphoid_tissue(54)_%7C_kidney(46)_%7C_large_intestine(234)_%7C_lung(240)_%7C_ovary(52)_%7C_pancreas(22)_%7C_stomach(54)_%7C_testis(13)|||||||Y16123|||HGNC:9416|protein_%20_kinase_%2C__%20_cGMP-dependent_%2C__%20_type_%20_II|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||cGKII_%2C__%20_PRKGR2||4q21.21|2016-10-05|||X94612|2.7.11.1|5593|ENSG00000138669|7498513|NM_006259|||CCDS3589_%2C__%20_CCDS75150_%2C__%20_CCDS64005|OTTHUMG00000130296|5593|601591|NM_001282480|Q13237|ENSG00000138669|uc003hmh.3|KGP2_HUMAN||B4DMX3_%7C_E7EPE6_%7C_O00125_%7C_O60916|Q13237|blood_%20_coagulation_%20_(GO:0007596)_%7C_circadian_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0032922)_%7C_nitric_%20_oxide_%20_metabolic_%20_process_%20_(GO:0046209)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_nitric-oxide_%20_synthase_%20_activity_%20_(GO:0050999)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ATP_%20_binding_%20_(GO:0005524)_%7C_cGMP_%20_binding_%20_(GO:0030553)_%7C_cGMP-dependent_%20_protein_%20_kinase_%20_activity_%20_(GO:0004692)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)||||true|true||false|false|||false|false|false|PRKG2:5593|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|866277244|82126215|false|false|0|false|0|false||false|false|false|SNV|false|0x050000200005000402000100|1|false|147|rs866277244|] -chr4 87028376 exm411105 G A . PASS FUNCOTATION=[MAPK10|hg19|chr4|87028376|87028376|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr4:87028376G>A|ENST00000395169.3|-|5|973|c.252C>T|c.(250-252)aaC>aaT|p.N84N|0.39900249376558605|CAAAACTCACGTTTTTATGGT|MAPK10_ENST00000395166.1_SPLICE_SITE_p.N84N/MAPK10_ENST00000395160.3_DE_NOVO_START_IN_FRAME/MAPK10_ENST00000395157.3_DE_NOVO_START_IN_FRAME/MAPK10_ENST00000359221.3_SPLICE_SITE_p.N122N/MAPK10_ENST00000361569.2_SPLICE_SITE_p.N122N/MAPK10_ENST00000395161.2_SPLICE_SITE_p.N122N/MAPK10_ENST00000449047.2_DE_NOVO_START_IN_FRAME/MAPK10_ENST00000513839.1_SPLICE_SITE|||||||||||||||||||||||||1134|biliary_tract(2)_%7C_breast(237)_%7C_central_nervous_system(60)_%7C_haematopoietic_and_lymphoid_tissue(54)_%7C_kidney(46)_%7C_large_intestine(71)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||U34820|NM_138982.2|NP_620448.1|HGNC:6872|mitogen-activated_%20_protein_%20_kinase_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PRKM10||JNK3_%2C__%20_p493F12_%2C__%20_p54bSAPK||4q21.3|2016-10-05|||U07620|2.7.11.1|5602|ENSG00000109339|8654373_%2C__%20_12436199||651|Mitogen-activated_%20_protein_%20_kinases|CCDS3612_%2C__%20_CCDS34026_%2C__%20_CCDS43247_%2C__%20_CCDS82937|OTTHUMG00000130604|5602|602897|NM_001318067|P53779|ENSG00000109339|uc003hpr.4|MK10_HUMAN||A6NFS3_%7C_A6NG28_%7C_B3KQ94_%7C_Q15707_%7C_Q49AP1|P53779|activation_%20_of_%20_MAPK_%20_activity_%20_(GO:0000187)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_JNK_%20_cascade_%20_(GO:0007254)_%7C_JUN_%20_phosphorylation_%20_(GO:0007258)_%7C_MyD88-dependent_%20_toll-like_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0002755)_%7C_MyD88-independent_%20_toll-like_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0002756)_%7C_regulation_%20_of_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0051090)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_stress-activated_%20_MAPK_%20_cascade_%20_(GO:0051403)_%7C_toll-like_%20_receptor_%20_10_%20_signaling_%20_pathway_%20_(GO:0034166)_%7C_toll-like_%20_receptor_%20_2_%20_signaling_%20_pathway_%20_(GO:0034134)_%7C_toll-like_%20_receptor_%20_3_%20_signaling_%20_pathway_%20_(GO:0034138)_%7C_toll-like_%20_receptor_%20_4_%20_signaling_%20_pathway_%20_(GO:0034142)_%7C_toll-like_%20_receptor_%20_5_%20_signaling_%20_pathway_%20_(GO:0034146)_%7C_toll-like_%20_receptor_%20_9_%20_signaling_%20_pathway_%20_(GO:0034162)_%7C_toll-like_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0002224)_%7C_toll-like_%20_receptor_%20_TLR1:TLR2_%20_signaling_%20_pathway_%20_(GO:0038123)_%7C_toll-like_%20_receptor_%20_TLR6:TLR2_%20_signaling_%20_pathway_%20_(GO:0038124)_%7C_TRIF-dependent_%20_toll-like_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0035666)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ATP_%20_binding_%20_(GO:0005524)_%7C_JUN_%20_kinase_%20_activity_%20_(GO:0004705)_%7C_MAP_%20_kinase_%20_kinase_%20_activity_%20_(GO:0004708)||||true|false||false|false|||false|false|false|MAPK10:5602|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|200989776|87028376|false|true|0|false|0|true|0.999966_%2C_3.4343e-005|false|false|true|SNV|true|0x050200400305040402000100|1|false|137|rs200989776|] -chr5 1882759 . C CAT . PASS FUNCOTATION=[IRX4|hg19|chr5|1882759|1882760|START_CODON_INS||INS|-|-|AT|g.chr5:1882759_1882760insAT|ENST00000505790.1|-|2|460|c.2_3insAT|||0.72|CGGGTAGGACATGGCGGGCG|IRX4_ENST00000231357.2_START_CODON_INS_/IRX4_ENST00000513692.1_START_CODON_INS_/IRX4_ENST00000505938.1_FIVE_PRIME_FLANK/CTD-2194D22.3_ENST00000506335.1_FIVE_PRIME_FLANK/CTD-2194D22.4_ENST00000514569.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U90306|NM_001278634.1|NP_001265563.1|HGNC:6129|iroquois_%20_homeobox_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"iroquois_%20_homeobox_%20_protein_%20_4"|||5p15.33|2014-11-19||2007-07-13|AF124733||50805|ENSG00000113430|10625552|NM_016358|526|TALE_%20_class_%20_homeoboxes_%20_and_%20_pseudogenes|CCDS3867_%2C__%20_CCDS75225|OTTHUMG00000090411|50805|606199|NM_001278632|P78413|ENSG00000113430|uc031sir.2|IRX4_HUMAN||B2RMW5_%7C_D3DTC5_%7C_H1AFL0_%7C_H1AFL1_%7C_Q2NL64_%7C_Q9UHR2|P78413|establishment_%20_of_%20_organ_%20_orientation_%20_(GO:0048561)_%7C_heart_%20_development_%20_(GO:0007507)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)|nucleus_%20_(GO:0005634)|sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr6 88255394 var_6_88255394 CTTT C . PASS FUNCOTATION=[RARS2|hg19|chr6|88255395|88255397|IN_FRAME_DEL||DEL|TTT|TTT|-|g.chr6:88255395_88255397delTTT|ENST00000369536.5|-|7|521_523|c.472_474delAAA|c.(472-474)aaadel|p.K158del|0.2903225806451613|CTAAAGCTTCTTTGAGATTTGCT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471051|NM_020320.3|NP_064716.2|HGNC:21406|arginyl-tRNA_%20_synthetase_%20_2_%2C__%20_mitochondrial|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|RARSL|"arginyl-tRNA_%20_synthetase-like"|MGC14993_%2C__%20_MGC23778_%2C__%20_PRO1992_%2C__%20_dJ382I10.6_%2C__%20_DALRD2|"arginine_%20_tRNA_%20_ligase_%20_2_%2C__%20_mitochondrial_%20_(putative)"|6q15|2016-10-05|2007-02-23|2007-09-27|AK093934|6.1.1.19|57038|ENSG00000146282|17847012|NM_020320|131|Aminoacyl_%20_tRNA_%20_synthetases_%2C__%20_Class_%20_I|CCDS5011|OTTHUMG00000015178|57038|611524|NM_001318785|Q5T160|ENSG00000146282|uc003pme.4|SYRM_HUMAN||B2RDT7_%7C_Q96FU5_%7C_Q9H8K8|Q5T160|arginyl-tRNA_%20_aminoacylation_%20_(GO:0006420)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_tRNA_%20_aminoacylation_%20_for_%20_protein_%20_translation_%20_(GO:0006418)|mitochondrial_%20_matrix_%20_(GO:0005759)|arginine-tRNA_%20_ligase_%20_activity_%20_(GO:0004814)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||true|false||false|false|||false|false|false|RARS2:57038|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|757743894|88255395|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|DIV|true|0x050000000005040402000200|1|false|144|rs757743894|] -chr10 120795681 indel.14858 TCTCGGTCTCTTG T . PASS FUNCOTATION=[EIF3A|hg19|chr10|120795682|120795693|IN_FRAME_DEL||DEL|CTCGGTCTCTTG|CTCGGTCTCTTG|-|g.chr10:120795682_120795693delCTCGGTCTCTTG|ENST00000369144.3|-|22|4147_4158|c.4007_4018delCAAGAGACCGAG|c.(4006-4020)tcaagagaccgagaa>taa|p.1336_1340SRDRE>*|0.3859223300970874|CGGTCTCTTTCTCGGTCTCTTGAAAGAGCTGG|EIF3A_ENST00000541549.1_IN_FRAME_DEL_p.1302_1306SRDRE>*|||||||||||||||||||||||||185|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||U78311|NM_003750.2|NP_003741.1|HGNC:3271|eukaryotic_%20_translation_%20_initiation_%20_factor_%20_3_%20_subunit_%20_A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EIF3_%2C__%20_EIF3S10|"eukaryotic_%20_translation_%20_initiation_%20_factor_%20_3_%2C__%20_subunit_%20_10_%20_theta_%2C__%20_150/170kDa"_%2C__%20_"eukaryotic_%20_translation_%20_initiation_%20_factor_%20_3_%2C__%20_subunit_%20_A"|eIF3-theta_%2C__%20_eIF3-p170_%2C__%20_KIAA0139_%2C__%20_eIF3a_%2C__%20_TIF32||10q26.11|2015-12-04|2007-07-27|2015-12-04|U78311||8661|ENSG00000107581|9054404_%2C__%20_8590280|NM_003750|1121|Eukaryotic_%20_translation_%20_initiation_%20_factor_%20_3|CCDS7608|OTTHUMG00000019144|8661|602039|NM_003750|Q14152|ENSG00000107581|uc001ldu.4|IF6_HUMAN||B7ZBG9_%7C_Q6IBN8_%7C_Q96TD5|P56537|mature_%20_ribosome_%20_assembly_%20_(GO:0042256)_%7C_ribosomal_%20_large_%20_subunit_%20_biogenesis_%20_(GO:0042273)_%7C_ribosomal_%20_subunit_%20_export_%20_from_%20_nucleus_%20_(GO:0000054)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_lamin_%20_filament_%20_(GO:0005638)_%7C_nucleus_%20_(GO:0005634)|ribosomal_%20_large_%20_subunit_%20_binding_%20_(GO:0043023)_%7C_ribosome_%20_binding_%20_(GO:0043022)_%7C_translation_%20_initiation_%20_factor_%20_activity_%20_(GO:0003743)||||true|false||false|false|||false|false|false|EIF3A:8661|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|766037789|120795682|false|false|0|false|0|false||false|false|false|DIV|false|0x050000000005000402000200|1|false|144|rs766037789|] -chr12 11243923 indel.23289 TTTCACC T . PASS FUNCOTATION=[TAS2R43|hg19|chr12|11243924|11243929|IN_FRAME_DEL||DEL|TTCACC|TTCACC|-|g.chr12:11243924_11243929delTTCACC|ENST00000531678.1|-|1|990_995|c.900_905delGGTGAA|c.(898-906)tgggtgaaa>tga|p.300_302WVK>*|0.35714285714285715|CTTCTCTCCTTTCACCCAGTACCTCA|TAS2R14_ENST00000381852.4_INTRON/PRR4_ENST00000536668.1_INTRON|||||||||||||||||||||||||1|haematopoietic_and_lymphoid_tissue(1)|||||||BC117423|NM_176884.2|NP_795365.2|HGNC:18875|taste_%20_2_%20_receptor_%20_member_%20_43|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"taste_%20_receptor_%2C__%20_type_%20_2_%2C__%20_member_%20_43"|T2R52||12p13.2|2015-12-16||2015-12-16|AF494237||259289||12379855|NM_176884|1162|Taste_%20_2_%20_receptors|CCDS53749||259289|612668|NM_176884|P59537|ENSG00000255374|uc001qzq.1|T2R43_HUMAN||P59546_%7C_Q645X4|P59537|detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_bitter_%20_taste_%20_(GO:0001580)_%7C_G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_motile_%20_cilium_%20_(GO:0031514)_%7C_plasma_%20_membrane_%20_(GO:0005886)|bitter_%20_taste_%20_receptor_%20_activity_%20_(GO:0033038)_%7C_taste_%20_receptor_%20_activity_%20_(GO:0008527)||||true|false||false|false|||false|false|false|PRH1-TAS2R14:106707243_%7C_TAS2R43:259289_%7C_PRH1:5554_%7C_PRH1-PRR4:100533464|false|true|true|false|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|867813065|11243924|false|false|0|false|0|false||false|false|false|DIV|false|0x050000080005000402000210|1|false|147|rs867813065|] -chr12 55820040 indel.25160 GA G . PASS FUNCOTATION=[OR6C76|hg19|chr12|55820041|55820041|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr12:55820041delA|ENST00000328314.3|+|1|3|c.4delA|c.(4-6)aaafs|p.N3fs|0.341645885286783|ATCAGAAATGAAAAATAGAAC||||||||||||||||||||||||||68|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AC125816|NM_001005183.1|NP_001005183.1|HGNC:31305|olfactory_%20_receptor_%20_family_%20_6_%20_subfamily_%20_C_%20_member_%20_76|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"olfactory_%20_receptor_%2C__%20_family_%20_6_%2C__%20_subfamily_%20_C_%2C__%20_member_%20_76"|||12q13.2|2015-12-09||2015-12-09|||390326|ENSG00000185821||NM_001005183|153|Olfactory_%20_receptors_%2C__%20_family_%20_6|CCDS31823|OTTHUMG00000169956|390326||NM_001005183|A6NM76|ENSG00000185821|uc010spm.2|O6C76_HUMAN|||A6NM76||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||true|false||false|false|||false|false|false|OR6C76:390326|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|768848732|55820041|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs768848732|] -chr13 60738150 . C A . PASS FUNCOTATION=[DIAPH3|hg19|chr13|60738150|60738150|FIVE_PRIME_FLANK||SNP|C|C|A|g.chr13:60738150C>A|ENST00000267215.4|-||||||0.6234413965087282|CCCTTCCGGGCACTGCGAAAC|DIAPH3_ENST00000377908.2_FIVE_PRIME_FLANK/DIAPH3_ENST00000400319.1_FIVE_PRIME_FLANK/DIAPH3_ENST00000400320.1_FIVE_PRIME_FLANK/DIAPH3_ENST00000400324.4_FIVE_PRIME_FLANK/DIAPH3_ENST00000400330.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||95|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_oesophagus(4)_%7C_pancreas(22)|||||||BX649186|NM_030932.3|NP_112194.2|HGNC:15480|diaphanous_%20_related_%20_formin_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AUNA1|"diaphanous_%20_(Drosophila_%2C__%20_homolog)_%20_3"_%2C__%20_"auditory_%20_neuropathy_%2C__%20_autosomal_%20_dominant_%20_1"_%2C__%20_"diaphanous_%20_homolog_%20_3_%20_(Drosophila)"|DRF3_%2C__%20_FLJ34705_%2C__%20_AN_%2C__%20_NSDAN||13q21.2|2015-11-18||2015-11-18|AL137718||81624|ENSG00000139734|14767582_%2C__%20_20624953|NM_001042517|||CCDS41898_%2C__%20_CCDS58294_%2C__%20_CCDS58295_%2C__%20_CCDS58296_%2C__%20_CCDS58297_%2C__%20_CCDS73579_%2C__%20_CCDS73580|OTTHUMG00000017004|81624|614567|NM_001042517|Q9NSV4|ENSG00000139734|uc001vht.6|DIAP3_HUMAN||A2A3B8_%7C_A2A3B9_%7C_A2A3C0_%7C_Q18P99_%7C_Q18PA0_%7C_Q18PA1_%7C_Q2KPB6_%7C_Q3ZK23_%7C_Q5JTP8_%7C_Q5T2S7_%7C_Q5XKF6_%7C_Q6MZF0_%7C_Q6NUP0_%7C_Q86VS4_%7C_Q8NAV4|Q9NSV4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_spermatogenesis_%20_(GO:0007283)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr13 60738150 . CAC C . PASS FUNCOTATION=[DIAPH3|hg19|chr13|60738151|60738152|FIVE_PRIME_FLANK||DEL|AC|AC|-|g.chr13:60738151_60738152delAC|ENST00000267215.4|-||||||0.6218905472636815|CCTTCCGGGCACTGCGAAACAT|DIAPH3_ENST00000377908.2_FIVE_PRIME_FLANK/DIAPH3_ENST00000400319.1_FIVE_PRIME_FLANK/DIAPH3_ENST00000400320.1_FIVE_PRIME_FLANK/DIAPH3_ENST00000400324.4_FIVE_PRIME_FLANK/DIAPH3_ENST00000400330.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||95|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_oesophagus(4)_%7C_pancreas(22)|||||||BX649186|NM_030932.3|NP_112194.2|HGNC:15480|diaphanous_%20_related_%20_formin_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AUNA1|"diaphanous_%20_(Drosophila_%2C__%20_homolog)_%20_3"_%2C__%20_"auditory_%20_neuropathy_%2C__%20_autosomal_%20_dominant_%20_1"_%2C__%20_"diaphanous_%20_homolog_%20_3_%20_(Drosophila)"|DRF3_%2C__%20_FLJ34705_%2C__%20_AN_%2C__%20_NSDAN||13q21.2|2015-11-18||2015-11-18|AL137718||81624|ENSG00000139734|14767582_%2C__%20_20624953|NM_001042517|||CCDS41898_%2C__%20_CCDS58294_%2C__%20_CCDS58295_%2C__%20_CCDS58296_%2C__%20_CCDS58297_%2C__%20_CCDS73579_%2C__%20_CCDS73580|OTTHUMG00000017004|81624|614567|NM_001042517|Q9NSV4|ENSG00000139734|uc001vht.6|DIAP3_HUMAN||A2A3B8_%7C_A2A3B9_%7C_A2A3C0_%7C_Q18P99_%7C_Q18PA0_%7C_Q18PA1_%7C_Q2KPB6_%7C_Q3ZK23_%7C_Q5JTP8_%7C_Q5T2S7_%7C_Q5XKF6_%7C_Q6MZF0_%7C_Q6NUP0_%7C_Q86VS4_%7C_Q8NAV4|Q9NSV4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_spermatogenesis_%20_(GO:0007283)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr13 60738150 . C CAC . PASS FUNCOTATION=[DIAPH3|hg19|chr13|60738150|60738151|FIVE_PRIME_FLANK||INS|-|-|AC|g.chr13:60738150_60738151insAC|ENST00000267215.4|-||||||0.6225|CCTTCCGGGCACTGCGAAAC|DIAPH3_ENST00000377908.2_FIVE_PRIME_FLANK/DIAPH3_ENST00000400319.1_FIVE_PRIME_FLANK/DIAPH3_ENST00000400320.1_FIVE_PRIME_FLANK/DIAPH3_ENST00000400324.4_FIVE_PRIME_FLANK/DIAPH3_ENST00000400330.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||95|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_oesophagus(4)_%7C_pancreas(22)|||||||BX649186|NM_030932.3|NP_112194.2|HGNC:15480|diaphanous_%20_related_%20_formin_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AUNA1|"diaphanous_%20_(Drosophila_%2C__%20_homolog)_%20_3"_%2C__%20_"auditory_%20_neuropathy_%2C__%20_autosomal_%20_dominant_%20_1"_%2C__%20_"diaphanous_%20_homolog_%20_3_%20_(Drosophila)"|DRF3_%2C__%20_FLJ34705_%2C__%20_AN_%2C__%20_NSDAN||13q21.2|2015-11-18||2015-11-18|AL137718||81624|ENSG00000139734|14767582_%2C__%20_20624953|NM_001042517|||CCDS41898_%2C__%20_CCDS58294_%2C__%20_CCDS58295_%2C__%20_CCDS58296_%2C__%20_CCDS58297_%2C__%20_CCDS73579_%2C__%20_CCDS73580|OTTHUMG00000017004|81624|614567|NM_001042517|Q9NSV4|ENSG00000139734|uc001vht.6|DIAP3_HUMAN||A2A3B8_%7C_A2A3B9_%7C_A2A3C0_%7C_Q18P99_%7C_Q18PA0_%7C_Q18PA1_%7C_Q2KPB6_%7C_Q3ZK23_%7C_Q5JTP8_%7C_Q5T2S7_%7C_Q5XKF6_%7C_Q6MZF0_%7C_Q6NUP0_%7C_Q86VS4_%7C_Q8NAV4|Q9NSV4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_spermatogenesis_%20_(GO:0007283)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr19 9091787 . A ATTT . PASS FUNCOTATION=[MUC16|hg19|chr19|9091787|9091788|IN_FRAME_INS||INS|-|-|TTT|g.chr19:9091787_9091788insTTT|ENST00000397910.4|-|1|232|c.27_28insAAA|c.(25-30)gggtca>gggAAAtca|p.9_10insK|0.5275|GAGAAGATGACCCAGGAAGG||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr19 9091787 . A ATTTTTT . PASS FUNCOTATION=[MUC16|hg19|chr19|9091787|9091788|IN_FRAME_INS||INS|-|-|TTTTTT|g.chr19:9091787_9091788insTTTTTT|ENST00000397910.4|-|1|232|c.27_28insAAAAAA|c.(25-30)gggtca>gggAAAAAAtca|p.9_10insKK|0.5275|GAGAAGATGACCCAGGAAGG||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr19 9091787 . ACCCA A . PASS FUNCOTATION=[MUC16|hg19|chr19|9091788|9091791|FRAME_SHIFT_DEL||DEL|CCCA|CCCA|-|g.chr19:9091788_9091791delCCCA|ENST00000397910.4|-|1|232_235|c.24_27delTGGG|c.(22-27)cctgggfs|p.G9fs|0.5247524752475248|GAGAAGATGACCCAGGAAGGCCTG||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr19 9091788 . CCCA C . PASS FUNCOTATION=[MUC16|hg19|chr19|9091789|9091791|IN_FRAME_DEL||DEL|CCA|CCA|-|g.chr19:9091789_9091791delCCA|ENST00000397910.4|-|1|231_233|c.24_26delTGG|c.(22-27)cctggg>ccg|p.G9del|0.5235732009925558|AGAAGATGACCCAGGAAGGCCTG||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr19 9091788 . C CTAA . PASS FUNCOTATION=[MUC16|hg19|chr19|9091788|9091789|IN_FRAME_INS||INS|-|-|TAA|g.chr19:9091788_9091789insTAA|ENST00000397910.4|-|1|231|c.26_27insTTA|c.(25-27)ggg>ggTTAg|p.9_10ins*|0.5275|AGAAGATGACCCAGGAAGGC||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr19 9091788 . C CTAATAA . PASS FUNCOTATION=[MUC16|hg19|chr19|9091788|9091789|IN_FRAME_INS||INS|-|-|TAATAA|g.chr19:9091788_9091789insTAATAA|ENST00000397910.4|-|1|231|c.26_27insTTATTA|c.(25-27)ggg>ggTTATTAg|p.9_10insY*|0.5275|AGAAGATGACCCAGGAAGGC||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr19 9091789 . CCA C . PASS FUNCOTATION=[MUC16|hg19|chr19|9091790|9091791|FRAME_SHIFT_DEL||DEL|CA|CA|-|g.chr19:9091790_9091791delCA|ENST00000397910.4|-|1|230_231|c.24_25delTG|c.(22-24)cctfs|p.G9fs|0.5248756218905473|GAAGATGACCCAGGAAGGCCTG||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr19 9091789 . C CT . PASS FUNCOTATION=[MUC16|hg19|chr19|9091789|9091790|FRAME_SHIFT_INS||INS|-|-|T|g.chr19:9091789_9091790insT|ENST00000397910.4|-|1|230|c.25_26insA|c.(25-27)gggfs|p.G9fs|0.5275|GAAGATGACCCAGGAAGGCC||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr19 9091789 . C CTA . PASS FUNCOTATION=[MUC16|hg19|chr19|9091789|9091790|FRAME_SHIFT_INS||INS|-|-|TA|g.chr19:9091789_9091790insTA|ENST00000397910.4|-|1|230|c.25_26insTA|c.(25-27)gggfs|p.G9fs|0.5275|GAAGATGACCCAGGAAGGCC||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr19 9091789 . C CTAA . PASS FUNCOTATION=[MUC16|hg19|chr19|9091789|9091790|IN_FRAME_INS||INS|-|-|TAA|g.chr19:9091789_9091790insTAA|ENST00000397910.4|-|1|230|c.25_26insTTA|c.(25-27)ggg>gTTAgg|p.G9VR|0.5275|GAAGATGACCCAGGAAGGCC||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr19 9091789 . C CTAATAA . PASS FUNCOTATION=[MUC16|hg19|chr19|9091789|9091790|IN_FRAME_INS||INS|-|-|TAATAA|g.chr19:9091789_9091790insTAATAA|ENST00000397910.4|-|1|230|c.25_26insTTATTA|c.(25-27)ggg>gTTATTAgg|p.G9VIR|0.5275|GAAGATGACCCAGGAAGGCC||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr19 9091789 . CCAGGA CGTCCT . PASS FUNCOTATION=[MUC16|hg19|chr19|9091789|9091794|MISSENSE||ONP|CCAGGA|CCAGGA|CGTCCT|g.chr19:9091789_9091794CCAGGA>CGTCCT|ENST00000397910.4|-|1|230_235|c.21_26TCCTGG>AGGACG|c.(19-27)ctTCCTGgg>ctAGGACgg|p.8_9PG>GR|0.5246305418719212|AGAAGATGACCCAGGAAGGCCTGAGG||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr19 9091790 . C CA . PASS FUNCOTATION=[MUC16|hg19|chr19|9091790|9091791|FRAME_SHIFT_INS||INS|-|-|A|g.chr19:9091790_9091791insA|ENST00000397910.4|-|1|229|c.24_25insT|c.(25-27)gggfs|p.G9fs|0.525|AAGATGACCCAGGAAGGCCT||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr19 9091790 . C CAT . PASS FUNCOTATION=[MUC16|hg19|chr19|9091790|9091791|FRAME_SHIFT_INS||INS|-|-|AT|g.chr19:9091790_9091791insAT|ENST00000397910.4|-|1|229|c.24_25insAT|c.(25-27)gggfs|p.G9fs|0.525|AAGATGACCCAGGAAGGCCT||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr19 9091790 . C CATG . PASS FUNCOTATION=[MUC16|hg19|chr19|9091790|9091791|IN_FRAME_INS||INS|-|-|ATG|g.chr19:9091790_9091791insATG|ENST00000397910.4|-|1|229|c.24_25insCAT|c.(22-27)cctggg>cctCATggg|p.8_9insH|0.525|AAGATGACCCAGGAAGGCCT||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr19 9091790 . CA C . PASS FUNCOTATION=[MUC16|hg19|chr19|9091791|9091791|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr19:9091791delA|ENST00000397910.4|-|1|229|c.24delT|c.(22-24)cctfs|p.S10fs|0.5236907730673317|AAGATGACCCAGGAAGGCCTG||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 752566 rs3094315 G A . PASS FUNCOTATION=[RP11-206L10.10|hg19|chr1|752566|752566|RNA||SNP|G|G|A|g.chr1:752566G>A|ENST00000435300.1|-|||c.e1-187C>T|||0.3690773067331671|CAAGAGAAACGTTTGACAGAG|FAM87B_ENST00000326734.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2817_%2C_0.7183|false|false|1||false|true|false|FAM87B:400728|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|true|false|3094315|752566|true|false|0|true|0|false|0.351947_%2C_0.648053|false|false|false|SNV|true|0x05012802000515053f000101|1|false|103|rs3094315|] +1 752721 rs3131972 A G . PASS FUNCOTATION=[RP11-206L10.10|hg19|chr1|752721|752721|RNA||SNP|A|A|G|g.chr1:752721A>G|ENST00000435300.1|-|||c.e1-32T>C|||0.486284289276808|AGAAAGGAAAAGGGAAGAATG|FAM87B_ENST00000326734.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3466_%2C_0.6534|false|false|1||false|true|true|FAM87B:400728|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3131972|752721|true|false|0|true|0|false|0.393296_%2C_0.606704|false|false|false|SNV|true|0x05010002000517053f000100|1|false|103|rs3131972|] +1 762320 exm2268640 C T . PASS FUNCOTATION=[LINC00115|hg19|chr1|762320|762320|LINCRNA||SNP|C|C|T|g.chr1:762320C>T|ENST00000473798.1|-|||c.e1-582G>A|||0.6084788029925187|ACCCAACAGTCACCGCTAGTG|RP11-206L10.11_ENST00000445118.2_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||HGNC:26211|long_%20_intergenic_%20_non-protein_%20_coding_%20_RNA_%20_115|Approved|RNA_%2C__%20_long_%20_non-coding|non-coding_%20_RNA|NCRNA00115|"non-protein_%20_coding_%20_RNA_%20_115"|FLJ22639||1p36.33|2014-11-18|2011-08-11|2011-08-11|BC017762||79854|ENSG00000225880|12477932|XR_017693||||OTTHUMG00000141258|79854||NR_024321||ENSG00000225880|uc010nxx.3|||||||||||true|false|0.9305_%2C_0.06949|false|false|1||false|true|false|LINC01128:643837_%7C_LINC00115:79854|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|75333668|762320|false|false|0|true|0|false||false|false|false|SNV|true|0x050100020005150436000100|1|false|131|rs75333668|] +1 798959 rs11240777 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|798959|798959|IGR||SNP|G|G|A|g.chr1:798959G>A|no_transcript|||||||0.4089775561097257|TGGGCTTTAAGGTATGACTAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 838555 rs4970383 C A . PASS FUNCOTATION=[RP11-54O7.16|hg19|chr1|838555|838555|FIVE_PRIME_FLANK||SNP|C|C|A|g.chr1:838555C>A|ENST00000607769.1|+||||||0.5511221945137157|GACCCCATTTCACCTTAATCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 846808 rs4475691 C T . PASS FUNCOTATION=[RP11-54O7.16|hg19|chr1|846808|846808|LINCRNA||SNP|C|C|T|g.chr1:846808C>T|ENST00000607769.1|+|||c.e2-4322C>T|||0.6059850374064838|TGGTGAGCTGCGCCTTTGTGC|RP11-54O7.2_ENST00000398216.2_FIVE_PRIME_FLANK/RP11-54O7.1_ENST00000448179.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7452_%2C_0.2548|false|false|1||false|true|true|LOC284600:284600|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|4475691|846808|false|false|0|true|0|false|0.725634_%2C_0.274366|false|false|false|SNV|true|0x05010002000517053e000100|1|false|111|rs4475691|] +1 861349 exm41 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|861349|861349|MISSENSE||SNP|C|C|T|g.chr1:861349C>T|ENST00000342066.3|+|2|111|c.28C>T|c.(28-30)Cct>Tct|p.P10S|0.6533665835411472|GCAGGTGCATCCTCCGATCTG|AL645608.1_ENST00000598827.1_MISSENSE_p.G84E|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200686669|861349|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs200686669|] +1 861808 rs13302982 A G . PASS FUNCOTATION=[SAMD11|hg19|chr1|861808|861808|INTRON||SNP|A|A|G|g.chr1:861808A>G|ENST00000342066.3|+|||c.e2+415A>G|||0.6134663341645885|GGACGACAGCATTTTGGGGAG|AL645608.1_ENST00000598827.1_INTRON|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.3177_%2C_0.6823|false|false|1||false|true|false|SAMD11:148398|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|13302982|861808|false|false|0|true|0|false|0.289649_%2C_0.710351|false|false|false|SNV|true|0x05010008000515053f000100|1|false|121|rs13302982|] +1 865545 exm1916089 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865545|865545|MISSENSE||SNP|G|G|A|g.chr1:865545G>A|ENST00000342066.3|+|3|166|c.83G>A|c.(82-84)cGg>cAg|p.R28Q|0.6683291770573566|AACCGGGGGCGGCTGGCAGAC|AL645608.1_ENST00000598827.1_INTRON|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9972_%2C_0.002796|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201186828|865545|false|false|0|false|0|false|0.997012_%2C_0.00298784|false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs201186828|] +1 865584 exm44 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865584|865584|MISSENSE||SNP|G|G|A|g.chr1:865584G>A|ENST00000342066.3|+|3|205|c.122G>A|c.(121-123)cGg>cAg|p.R41Q|0.6683291770573566|CCTGCCGCCCGGAACCTGAAG|AL645608.1_ENST00000598827.1_MISSENSE_p.P53L|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.989_%2C_0.01098|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|148711625|865584|false|false|0|true|0|false|0.986984_%2C_0.013016|false|false|false|SNV|true|0x050100000a05140436000100|1|false|134|rs148711625|] +1 865625 exm46 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865625|865625|MISSENSE||SNP|G|G|A|g.chr1:865625G>A|ENST00000342066.3|+|3|246|c.163G>A|c.(163-165)Gat>Aat|p.D55N|0.6583541147132169|CTCTGCCAGCGATGGTGACAG|AL645608.1_ENST00000598827.1_SILENT_p.I39I|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9986_%2C_0.001398|false|false|1||false|false|false|SAMD11:148398|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146327803|865625|false|false|0|false|0|false|0.99763_%2C_0.00236967|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs146327803|] +1 865628 exm47 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865628|865628|MISSENSE||SNP|G|G|A|g.chr1:865628G>A|ENST00000342066.3|+|3|249|c.166G>A|c.(166-168)Ggt>Agt|p.G56S|0.655860349127182|TGCCAGCGATGGTGACAGCGA|AL645608.1_ENST00000598827.1_SILENT_p.T38T|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9972_%2C_0.002796|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|41285790|865628|false|false|0|true|0|false|0.996909_%2C_0.00309087|false|false|false|SNV|true|0x050100000a05040436000100|1|false|127|rs41285790|] +1 865662 exm51 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865662|865662|MISSENSE||SNP|G|G|A|g.chr1:865662G>A|ENST00000342066.3|+|3|283|c.200G>A|c.(199-201)cGg>cAg|p.R67Q|0.6433915211970075|ACCTGTGGGCGGCGGCCAGGC|AL645608.1_ENST00000598827.1_SPLICE_SITE|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9992_%2C_0.0007987|false|false|0||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|140751899|865662|false|false|0|false|0|false|0.997836_%2C_0.00216361|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs140751899|] +1 865665 exm53 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865665|865665|MISSENSE||SNP|G|G|A|g.chr1:865665G>A|ENST00000342066.3|+|3|286|c.203G>A|c.(202-204)cGg>cAg|p.R68Q|0.6408977556109726|TGTGGGCGGCGGCCAGGCTTG|AL645608.1_ENST00000598827.1_SPLICE_SITE|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|145442390|865665|false|false|0|false|0|false|0.999141_%2C_0.000858575|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs145442390|] +1 865694 exm55 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|865694|865694|MISSENSE||SNP|C|C|T|g.chr1:865694C>T|ENST00000342066.3|+|3|315|c.232C>T|c.(232-234)Cac>Tac|p.H78Y|0.6359102244389028|GGATGGTCCGCACATCCGTAT|AL645608.1_ENST00000598827.1_MISSENSE_p.C18Y|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9475_%2C_0.05252|false|false|1||false|true|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|9988179|865694|false|false|0|true|0|false|0.976441_%2C_0.0235593|false|false|false|SNV|true|0x050100000a05150436000100|1|false|119|rs9988179|] +1 865700 exm56 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|865700|865700|MISSENSE||SNP|C|C|T|g.chr1:865700C>T|ENST00000342066.3|+|3|321|c.238C>T|c.(238-240)Cgt>Tgt|p.R80C|0.6384039900249376|TCCGCACATCCGTATCATGAA|AL645608.1_ENST00000598827.1_MISSENSE_p.R16Q|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|116730894|865700|false|false|0|true|0|false|0.997802_%2C_0.00219795|false|false|false|SNV|true|0x050100000a05040436000100|1|false|132|rs116730894|] +1 866429 exm60 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|866429|866429|MISSENSE||SNP|C|C|T|g.chr1:866429C>T|ENST00000342066.3|+|4|348|c.265C>T|c.(265-267)Cac>Tac|p.H89Y|0.6384039900249376|AGTCCACACCCACTGGGACGT|AL645608.1_ENST00000598827.1_NONSENSE_p.W6*|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144317111|866429|false|false|0|false|0|false|0.999691_%2C_0.000309108|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs144317111|] +1 871276 exm85 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|871276|871276|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:871276G>A|ENST00000342066.3|+|5|513|c.430G>A|c.(430-432)Ggt>Agt|p.G144S|0.6758104738154613|GCGACCCGCCGGTGAGGAGCA|AL645608.1_ENST00000598827.1_FIVE_PRIME_FLANK/SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146347471|871276|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs146347471|] +1 878697 exm151 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|878697|878697|NONSENSE||SNP|G|G|A|g.chr1:878697G>A|ENST00000342066.3|+|12|1712|c.1629G>A|c.(1627-1629)tgG>tgA|p.W543*|0.6458852867830424|TCACCAAGTGGACCGTGGATG||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|147226614|878697|false|true|0|false|0|false||false|false|false|SNV|true|0x050200080605040402000100|1|false|134|rs147226614|] +1 880167 exm2253572 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|880167|880167|SILENT||SNP|G|G|A|g.chr1:880167G>A|ENST00000327044.6|-|19|2207|c.2157C>T|c.(2155-2157)gaC>gaT|p.D719D|0.6134663341645885|CCGCCTCTGCGTCTGGGTCTC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|SAMD11:148398_%7C_NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|201894720|880167|false|false|0|false|0|true||false|false|false|SNV|true|0x050000040305040402000100|1|false|137|rs201894720|] +1 880943 exm249 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|880943|880943|SILENT||SNP|G|G|A|g.chr1:880943G>A|ENST00000327044.6|-|17|2058|c.2008C>T|c.(2008-2010)Ctg>Ttg|p.L670L|0.6159600997506235|GAGCTGTTCAGGTCAAAGAGG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9988_%2C_0.001198_%2C_.|false|false|1||false|false|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|113650656|880943|false|false|0|true|0|true|0.998489_%2C_0.00144241_%2C_6.8686e-005|false|false|false|SNV|true|0x050100000b05040536000100|1|false|132|rs113650656|] +1 881554 exm255 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|881554|881554|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:881554C>T|ENST00000327044.6|-|16|1966|c.1916G>A|c.(1915-1917)cGg>cAg|p.R639Q|0.628428927680798|GAGCCGCACCCGCTCTTTGCC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147322750|881554|false|false|0|false|0|false|0.999725_%2C_0.000274744|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs147322750|] +1 881627 exm2253575 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|881627|881627|SILENT||SNP|G|G|A|g.chr1:881627G>A|ENST00000327044.6|-|16|1893|c.1843C>T|c.(1843-1845)Ctg>Ttg|p.L615L|0.6408977556109726|TACAAGGTCAGGGGTGTCCCC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.5581_%2C_0.4419|false|false|1||false|true|true|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|2272757|881627|true|false|0|true|0|true|0.601312_%2C_0.398688|false|false|false|SNV|true|0x050100000305170536000100|1|false|100|rs2272757|] +1 887521 variant.16 T C . PASS FUNCOTATION=[NOC2L|hg19|chr1|887521|887521|SPLICE_SITE|INTRON|SNP|T|T|C|g.chr1:887521T>C|ENST00000327044.6|-|||c.e11+2A>G|c.e11-2||0.6059850374064838|GTATGTTTCCTGGTCAGAGAG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|true||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|377598297|887521|false|false|0|false|0|false||false|false|false|SNV|false|0x050000200005000402000100|1|false|138|rs377598297|] +1 891309 exm360 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|891309|891309|MISSENSE||SNP|C|C|T|g.chr1:891309C>T|ENST00000327044.6|-|6|742|c.692G>A|c.(691-693)aGc>aAc|p.S231N|0.5960099750623441|TTACCTGCTGCTATCCTTTGC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|148852075|891309|false|false|0|false|0|false|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs148852075|] +1 891358 exm369 G T . PASS FUNCOTATION=[NOC2L|hg19|chr1|891358|891358|MISSENSE||SNP|G|G|T|g.chr1:891358G>T|ENST00000327044.6|-|6|693|c.643C>A|c.(643-645)Ctc>Atc|p.L215I|0.5910224438902744|CAGCCAATGAGGTCTCTGATG|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9994_%2C_._%2C_0.000599|false|false|0||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147225789|891358|false|false|0|true|0|false|0.999107_%2C_6.8686e-005_%2C_0.000824232|false|false|false|SNV|true|0x050100000a05040436000100|1|false|134|rs147225789|] +1 891384 exm371 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891384|891384|MISSENSE||SNP|G|G|A|g.chr1:891384G>A|ENST00000327044.6|-|6|667|c.617C>T|c.(616-618)gCt>gTt|p.A206V|0.57356608478803|GGTAACCAGAGCATTGAATGC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|139726958|891384|false|false|0|false|0|false|0.99976_%2C_0.000240401|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs139726958|] +1 891393 exm372 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891393|891393|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:891393G>A|ENST00000327044.6|-|6|658|c.608C>T|c.(607-609)gCa>gTa|p.A203V|0.5785536159600998|AGCATTGAATGCTGCAACGAA|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_SPLICE_SITE|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|113620763|891393|false|false|0|true|0|false|0.998523_%2C_0.00147675|false|false|false|SNV|true|0x050100000a05040536000100|1|false|132|rs113620763|] +1 894573 exm2264981 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|894573|894573|INTRON||SNP|G|G|A|g.chr1:894573G>A|ENST00000327044.6|-|||c.e1-22C>T|||0.6932668329177057|AGGCCAAATCGGCCCTCGGAC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.3656_%2C_0.6344|false|false|1||false|true|true|KLHL17:339451_%7C_NOC2L:26155|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|13303010|894573|false|false|0|true|0|false|0.400467_%2C_0.599533|false|false|false|SNV|true|0x0501000a000517053f000100|1|false|121|rs13303010|] +1 900427 exm596 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|900427|900427|SILENT||SNP|G|G|A|g.chr1:900427G>A|ENST00000338591.3|+|12|1892|c.1785G>A|c.(1783-1785)gaG>gaA|p.E595E|0.6508728179551122|ACTCCATCGAGAAGTACAACC|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.9649_%2C_0.03514|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|115741058|900427|false|true|0|true|0|true|0.949413_%2C_0.0505873|false|false|false|SNV|true|0x05030002030515043e000100|1|false|132|rs115741058|] +1 904165 rs28391282 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|904165|904165|INTRON||SNP|G|G|A|g.chr1:904165G>A|ENST00000379410.3|+|||c.e3-1492G>A|||0.57356608478803|TAAGGAGGGGGGTCAGGACTG|PLEKHN1_ENST00000379407.3_INTRON/PLEKHN1_ENST00000379409.2_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.8982_%2C_0.1018|false|false|1||false|true|false|PLEKHN1:84069|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28391282|904165|false|false|0|true|0|false|0.908098_%2C_0.0919019|false|false|false|SNV|true|0x05010008000515053f000100|1|false|125|rs28391282|] +1 906472 exm1918903 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906472|906472|INTRON||SNP|G|G|A|g.chr1:906472G>A|ENST00000379410.3|+|||c.e7-21G>A|||0.7082294264339152|CTGCGGAGACGAACTCCCCTG|PLEKHN1_ENST00000379407.3_MISSENSE_p.E210K/PLEKHN1_ENST00000379409.2_MISSENSE_p.E250K|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|PLEKHN1:84069|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201680039|906472|false|false|0|false|0|false|0.999347_%2C_0.000652517|false|false|false|SNV|true|0x050000080a05040436000100|1|false|137|rs201680039|] +1 908390 exm739 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|908390|908390|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:908390G>A|ENST00000379410.3|+|11|1187|c.1152G>A|c.(1150-1152)ccG>ccA|p.P384P|0.6583541147132169|AGCACACACCGGTGAGCGCTT|PLEKHN1_ENST00000379407.3_SPLICE_SITE_p.P396P/PLEKHN1_ENST00000379409.2_SPLICE_SITE_p.P436P|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9968_%2C_0.003195|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|148169601|908390|false|false|0|false|0|true|0.999897_%2C_0.000103029|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs148169601|] +1 908585 exm741 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|908585|908585|MISSENSE||SNP|G|G|A|g.chr1:908585G>A|ENST00000379410.3|+|12|1207|c.1172G>A|c.(1171-1173)cGt>cAt|p.R391H|0.6633416458852868|AACTCTGACCGTGCCAGCATT|PLEKHN1_ENST00000379407.3_INTRON/PLEKHN1_ENST00000379409.2_MISSENSE_p.R443H|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|PLEKHN1:84069|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|76884838|908585|false|false|0|false|0|false||false|false|false|SNV|false|0x050000080a05000436000100|1|false|131|rs76884838|] +1 908587 exm742 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|908587|908587|MISSENSE||SNP|G|G|A|g.chr1:908587G>A|ENST00000379410.3|+|12|1209|c.1174G>A|c.(1174-1176)Gcc>Acc|p.A392T|0.6633416458852868|CTCTGACCGTGCCAGCATTGG|PLEKHN1_ENST00000379407.3_INTRON/PLEKHN1_ENST00000379409.2_MISSENSE_p.A444T|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|PLEKHN1:84069|false|true|true|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|375212442|908587|false|false|0|false|0|false|0.998626_%2C_0.00137372|false|false|false|SNV|true|0x050000080a05040426000100|1|false|138|rs375212442|] +1 909320 exm2253598 C T . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|909320|909320|SILENT||SNP|C|C|T|g.chr1:909320C>T|ENST00000379410.3|+|14|1577|c.1542C>T|c.(1540-1542)ccC>ccT|p.P514P|0.6957605985037406|CCTCCGGCCCCGCTGGCCCCT|PLEKHN1_ENST00000379407.3_SILENT_p.P479P/PLEKHN1_ENST00000379409.2_SILENT_p.P566P|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.9986_%2C_0.001398|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|144710974|909320|false|false|0|false|0|true|0.998077_%2C_0.00192334|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs144710974|] +1 918573 rs2341354 A G . PASS FUNCOTATION=[C1orf170|hg19|chr1|918573|918573|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:918573A>G|ENST00000341290.2|-||||||0.6408977556109726|CGAACCTCTCACATTTCCAGG|C1orf170_ENST00000433179.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||||||||||||||||||||||||||||||||||PERM1_HUMAN||Q6ZVZ7_%7C_Q9BRF2_%7C_S5G239|Q5SV97|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_response_%20_to_%20_muscle_%20_activity_%20_(GO:0014850)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 928836 rs9777703 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|928836|928836|IGR||SNP|C|C|T|g.chr1:928836C>T|no_transcript|||||||0.5985037406483791|TTCCTAAAGCCGAACTGGAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 932457 rs1891910 G A . PASS FUNCOTATION=[RP11-54O7.17|hg19|chr1|932457|932457|LINCRNA||SNP|G|G|A|g.chr1:932457G>A|ENST00000606034.1|-|||c.e1-974C>T|||0.6408977556109726|CATTCAAAGGGATGGATTAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8684_%2C_0.1316_%2C_.|false|false|1||false|true|false||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|1891910|932457|false|false|0|true|0|false|0.840569_%2C_0.159397_%2C_3.43454e-005|false|false|false|SNV|true|0x05010000000515053f000100|1|false|92|rs1891910|] +1 934735 exm860 A C . PASS FUNCOTATION=[HES4|hg19|chr1|934735|934735|MISSENSE||SNP|A|A|C|g.chr1:934735A>C|ENST00000304952.6|-|4|508|c.370T>G|c.(370-372)Ttc>Gtc|p.F124V|0.7805486284289277|CCGGCCAGGAAGCGGTTCACC|HES4_ENST00000428771.2_MISSENSE_p.F150V/HES4_ENST00000484667.2_MISSENSE_p.F92V/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC012351|||HGNC:24149|hes_%20_family_%20_bHLH_%20_transcription_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"hairy_%20_and_%20_enhancer_%20_of_%20_split_%20_4_%20_(Drosophila)"|bHLHb42||1p36.33|2016-10-05||2013-10-17|BC012351||57801|ENSG00000188290|11260262_%2C__%20_15254753|NM_021170|420|Basic_%20_helix-loop-helix_%20_proteins|CCDS5_%2C__%20_CCDS44034|OTTHUMG00000040758|57801|608060|NM_001142467|Q9HCC6|ENSG00000188290|uc001aci.3|HES4_HUMAN||Q5SVA5|Q9HCC6|cell_%20_differentiation_%20_(GO:0030154)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)||||true|false|0.9986_%2C_0.001398|false|false|1||false|false|false|HES4:57801|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200527634|934735|false|false|0|false|0|false|0.99763_%2C_0.00236967|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs200527634|] +1 934770 exm861 G A . PASS FUNCOTATION=[HES4|hg19|chr1|934770|934770|MISSENSE||SNP|G|G|A|g.chr1:934770G>A|ENST00000304952.6|-|4|473|c.335C>T|c.(334-336)gCc>gTc|p.A112V|0.7680798004987531|GTGGAAGCCGGCGCGGTACTT|HES4_ENST00000428771.2_MISSENSE_p.A138V/HES4_ENST00000484667.2_MISSENSE_p.A80V/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC012351|||HGNC:24149|hes_%20_family_%20_bHLH_%20_transcription_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"hairy_%20_and_%20_enhancer_%20_of_%20_split_%20_4_%20_(Drosophila)"|bHLHb42||1p36.33|2016-10-05||2013-10-17|BC012351||57801|ENSG00000188290|11260262_%2C__%20_15254753|NM_021170|420|Basic_%20_helix-loop-helix_%20_proteins|CCDS5_%2C__%20_CCDS44034|OTTHUMG00000040758|57801|608060|NM_001142467|Q9HCC6|ENSG00000188290|uc001aci.3|HES4_HUMAN||Q5SVA5|Q9HCC6|cell_%20_differentiation_%20_(GO:0030154)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)||||true|false|0.9994_%2C_0.000599|false|false|1||false|false|false|HES4:57801|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201391049|934770|false|false|0|false|0|false|0.999451_%2C_0.000549488|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs201391049|] +1 934801 exm866 C T . PASS FUNCOTATION=[HES4|hg19|chr1|934801|934801|MISSENSE||SNP|C|C|T|g.chr1:934801C>T|ENST00000304952.6|-|4|442|c.304G>A|c.(304-306)Gcc>Acc|p.A102T|0.7581047381546134|GCGGGGTCGGCGCTGAGCGCG|HES4_ENST00000428771.2_MISSENSE_p.A128T/HES4_ENST00000484667.2_MISSENSE_p.A70T/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC012351|||HGNC:24149|hes_%20_family_%20_bHLH_%20_transcription_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"hairy_%20_and_%20_enhancer_%20_of_%20_split_%20_4_%20_(Drosophila)"|bHLHb42||1p36.33|2016-10-05||2013-10-17|BC012351||57801|ENSG00000188290|11260262_%2C__%20_15254753|NM_021170|420|Basic_%20_helix-loop-helix_%20_proteins|CCDS5_%2C__%20_CCDS44034|OTTHUMG00000040758|57801|608060|NM_001142467|Q9HCC6|ENSG00000188290|uc001aci.3|HES4_HUMAN||Q5SVA5|Q9HCC6|cell_%20_differentiation_%20_(GO:0030154)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)||||true|false|0.9974_%2C_0.002596|false|false|1||false|false|false|HES4:57801|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200512735|934801|false|false|0|false|0|false|0.999313_%2C_0.00068686|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs200512735|] +1 935085 exm878 G A . PASS FUNCOTATION=[HES4|hg19|chr1|935085|935085|MISSENSE||SNP|G|G|A|g.chr1:935085G>A|ENST00000304952.6|-|2|329|c.191C>T|c.(190-192)gCc>gTc|p.A64V|0.7107231920199502|TTTTCTGAGGGCGTCCAGGAT|HES4_ENST00000428771.2_MISSENSE_p.A90V/HES4_ENST00000484667.2_INTRON/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC012351|||HGNC:24149|hes_%20_family_%20_bHLH_%20_transcription_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"hairy_%20_and_%20_enhancer_%20_of_%20_split_%20_4_%20_(Drosophila)"|bHLHb42||1p36.33|2016-10-05||2013-10-17|BC012351||57801|ENSG00000188290|11260262_%2C__%20_15254753|NM_021170|420|Basic_%20_helix-loop-helix_%20_proteins|CCDS5_%2C__%20_CCDS44034|OTTHUMG00000040758|57801|608060|NM_001142467|Q9HCC6|ENSG00000188290|uc001aci.3|HES4_HUMAN||Q5SVA5|Q9HCC6|cell_%20_differentiation_%20_(GO:0030154)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|HES4:57801|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144665333|935085|false|false|0|false|0|false|0.999004_%2C_0.000995948|false|false|false|SNV|true|0x050000080a05040436000100|1|false|134|rs144665333|] +1 935089 exm880 C G . PASS FUNCOTATION=[HES4|hg19|chr1|935089|935089|MISSENSE||SNP|C|C|G|g.chr1:935089C>G|ENST00000304952.6|-|2|325|c.187G>C|c.(187-189)Gac>Cac|p.D63H|0.7107231920199502|CTGAGGGCGTCCAGGATGAGG|HES4_ENST00000428771.2_MISSENSE_p.D89H/HES4_ENST00000484667.2_INTRON/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC012351|||HGNC:24149|hes_%20_family_%20_bHLH_%20_transcription_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"hairy_%20_and_%20_enhancer_%20_of_%20_split_%20_4_%20_(Drosophila)"|bHLHb42||1p36.33|2016-10-05||2013-10-17|BC012351||57801|ENSG00000188290|11260262_%2C__%20_15254753|NM_021170|420|Basic_%20_helix-loop-helix_%20_proteins|CCDS5_%2C__%20_CCDS44034|OTTHUMG00000040758|57801|608060|NM_001142467|Q9HCC6|ENSG00000188290|uc001aci.3|HES4_HUMAN||Q5SVA5|Q9HCC6|cell_%20_differentiation_%20_(GO:0030154)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)||||true|false||false|false|||false|false|false|HES4:57801|false|true|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144493256|935089|false|false|0|false|0|false||false|false|false|SNV|true|0x050000080a05040402000100|1|false|134|rs144493256|] +1 944564 rs3128117 T C . PASS FUNCOTATION=[ISG15|hg19|chr1|944564|944564|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:944564T>C|ENST00000379389.4|+||||||0.47880299251870323|AGAATACATTTCTGTGGTGTG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M21786|NM_005101.3|NP_005092.1|HGNC:4053|ISG15_%20_ubiquitin-like_%20_modifier|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|G1P2|"interferon_%2C__%20_alpha-inducible_%20_protein_%20_(clone_%20_IFI-15K)"|IFI15_%2C__%20_UCRP||1p36.33|2015-08-25|2006-04-28|2006-04-28|BC009507||9636|ENSG00000187608|3087979|NM_005101|||CCDS6|OTTHUMG00000040777|9636|147571|NM_005101|P05161|ENSG00000187608|uc001acj.5|ISG15_HUMAN||Q5SVA4_%7C_Q7Z2G2_%7C_Q96GF0|P05161|cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_defense_%20_response_%20_to_%20_bacterium_%20_(GO:0042742)_%7C_defense_%20_response_%20_to_%20_virus_%20_(GO:0051607)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_ISG15-protein_%20_conjugation_%20_(GO:0032020)_%7C_modification-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0019941)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032480)_%7C_negative_%20_regulation_%20_of_%20_viral_%20_genome_%20_replication_%20_(GO:0045071)_%7C_positive_%20_regulation_%20_of_%20_erythrocyte_%20_differentiation_%20_(GO:0045648)_%7C_regulation_%20_of_%20_interferon-gamma_%20_production_%20_(GO:0032649)_%7C_response_%20_to_%20_type_%20_I_%20_interferon_%20_(GO:0034340)_%7C_type_%20_I_%20_interferon_%20_signaling_%20_pathway_%20_(GO:0060337)_%7C_viral_%20_process_%20_(GO:0016032)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|protein_%20_tag_%20_(GO:0031386)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 981345 exm1123 C T . PASS FUNCOTATION=[AGRN|hg19|chr1|981345|981345|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:981345C>T|ENST00000379370.2|+|16|2732|c.2682C>T|c.(2680-2682)gaC>gaT|p.D894D|0.6583541147132169|GTGCCCCAGACGCTTCTGCGC||||||||||||||||||||||||||163|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(45)_%7C_kidney(1)_%7C_large_intestine(35)_%7C_lung(2)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(24)|||||||U84406|NM_198576.3|NP_940978.2|HGNC:329|agrin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AGRIN|"agrin_%20_proteoglycan"|||1p36.33|2017-07-07|2007-02-16||XM_372195||375790|ENSG00000188157|1851019_%2C__%20_12270958|NM_198576|570|Proteoglycans|CCDS30551|OTTHUMG00000040778|375790|103320|NM_001305275|O00468|ENSG00000188157|uc001ack.3|AGRIN_HUMAN||Q5SVA1_%7C_Q5SVA2_%7C_Q60FE1_%7C_Q7KYS8_%7C_Q8N4J5_%7C_Q96IC1_%7C_Q9BTD4|O00468|axon_%20_guidance_%20_(GO:0007411)_%7C_carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_clustering_%20_of_%20_voltage-gated_%20_sodium_%20_channels_%20_(GO:0045162)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_glycosaminoglycan_%20_biosynthetic_%20_process_%20_(GO:0006024)_%7C_glycosaminoglycan_%20_catabolic_%20_process_%20_(GO:0006027)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_receptor_%20_metabolic_%20_process_%20_(GO:0045213)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_plasma_%20_membrane_%20_organization_%20_(GO:0007009)_%7C_positive_%20_regulation_%20_of_%20_filopodium_%20_assembly_%20_(GO:0051491)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_growth_%20_at_%20_neuromuscular_%20_junction_%20_(GO:0045887)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synapse_%20_organization_%20_(GO:0050808)|basal_%20_lamina_%20_(GO:0005605)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|acetylcholine_%20_receptor_%20_regulator_%20_activity_%20_(GO:0030548)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_chondroitin_%20_sulfate_%20_binding_%20_(GO:0035374)_%7C_dystroglycan_%20_binding_%20_(GO:0002162)_%7C_heparan_%20_sulfate_%20_proteoglycan_%20_binding_%20_(GO:0043395)_%7C_laminin_%20_binding_%20_(GO:0043236)_%7C_sialic_%20_acid_%20_binding_%20_(GO:0033691)_%7C_structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)||||true|false|0.998_%2C_0.001997|false|false|1||false|false|false|AGRN:375790|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|118105080|981345|false|false|0|true|0|true|0.99976_%2C_0.000240401|false|false|false|SNV|true|0x050128000305040436000100|1|false|132|rs118105080|] +1 990417 rs2465136 T C . PASS FUNCOTATION=[AGRN|hg19|chr1|990417|990417|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:990417T>C|ENST00000379370.2|+|36|||||0.6458852867830424|GTAAACTTGTTGCTTTTTGAT|RP11-54O7.14_ENST00000418300.1_RNA/RP11-465B22.3_ENST00000427998.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||163|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(45)_%7C_kidney(1)_%7C_large_intestine(35)_%7C_lung(2)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(24)|||||||U84406|NM_198576.3|NP_940978.2|HGNC:329|agrin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AGRIN|"agrin_%20_proteoglycan"|||1p36.33|2017-07-07|2007-02-16||XM_372195||375790|ENSG00000188157|1851019_%2C__%20_12270958|NM_198576|570|Proteoglycans|CCDS30551|OTTHUMG00000040778|375790|103320|NM_001305275|O00468|ENSG00000188157|uc001ack.3|AGRIN_HUMAN||Q5SVA1_%7C_Q5SVA2_%7C_Q60FE1_%7C_Q7KYS8_%7C_Q8N4J5_%7C_Q96IC1_%7C_Q9BTD4|O00468|axon_%20_guidance_%20_(GO:0007411)_%7C_carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_clustering_%20_of_%20_voltage-gated_%20_sodium_%20_channels_%20_(GO:0045162)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_G-protein_%20_coupled_%20_acetylcholine_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007213)_%7C_glycosaminoglycan_%20_biosynthetic_%20_process_%20_(GO:0006024)_%7C_glycosaminoglycan_%20_catabolic_%20_process_%20_(GO:0006027)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_receptor_%20_metabolic_%20_process_%20_(GO:0045213)_%7C_phototransduction_%2C__%20_visible_%20_light_%20_(GO:0007603)_%7C_plasma_%20_membrane_%20_organization_%20_(GO:0007009)_%7C_positive_%20_regulation_%20_of_%20_filopodium_%20_assembly_%20_(GO:0051491)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032321)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_growth_%20_at_%20_neuromuscular_%20_junction_%20_(GO:0045887)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_retinoid_%20_metabolic_%20_process_%20_(GO:0001523)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_synapse_%20_organization_%20_(GO:0050808)|basal_%20_lamina_%20_(GO:0005605)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_lysosomal_%20_lumen_%20_(GO:0043202)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|acetylcholine_%20_receptor_%20_regulator_%20_activity_%20_(GO:0030548)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_chondroitin_%20_sulfate_%20_binding_%20_(GO:0035374)_%7C_dystroglycan_%20_binding_%20_(GO:0002162)_%7C_heparan_%20_sulfate_%20_proteoglycan_%20_binding_%20_(GO:0043395)_%7C_laminin_%20_binding_%20_(GO:0043236)_%7C_sialic_%20_acid_%20_binding_%20_(GO:0033691)_%7C_structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)||||true|false|0.616_%2C_0.384|false|false|1||false|true|true|AGRN:375790|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2465136|990417|true|false|0|true|0|false|0.565114_%2C_0.434886|false|true|false|SNV|true|0x05010080000517053f000100|1|false|100|rs2465136|] +1 998395 rs7526076 A G . PASS FUNCOTATION=[RP11-465B22.3|hg19|chr1|998395|998395|RNA||SNP|A|A|G|g.chr1:998395A>G|ENST00000427998.1|+|||c.e3-64A>G|||0.655860349127182|CGTGGAAACAATGAGGGAGGT|RP11-54O7.18_ENST00000442292.2_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1777_%2C_0.8223|false|false|1||false|true|true|LOC100288175:100288175|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7526076|998395|false|false|0|true|0|false|0.225771_%2C_0.774229|false|false|false|SNV|true|0x05010008000517053f000100|1|false|116|rs7526076|] +1 1062638 rs9442373 C A . PASS FUNCOTATION=[Unknown|hg19|chr1|1062638|1062638|IGR||SNP|C|C|A|g.chr1:1062638C>A|no_transcript|||||||0.543640897755611|CCCGGCCCGCCGCAGCTTTAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1066403 rs10907182 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1066403|1066403|IGR||SNP|T|T|C|g.chr1:1066403T>C|no_transcript|||||||0.5935162094763092|GGTCCGGCAATGGCATCCCAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1097335 rs9442385 T G . PASS FUNCOTATION=[Unknown|hg19|chr1|1097335|1097335|IGR||SNP|T|T|G|g.chr1:1097335T>G|no_transcript|||||||0.6309226932668329|GGGCTCTTCCTCTGGGAGATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1106784 rs4442317 T C . PASS FUNCOTATION=[TTLL10|hg19|chr1|1106784|1106784|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:1106784T>C|ENST00000379289.1|+||||||0.6683291770573566|GAAGGGCCAGTTCTGGAGAGG|TTLL10_ENST00000379290.1_FIVE_PRIME_FLANK/TTLL10_ENST00000506177.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|NM_001130045.1|NP_001123517.1|HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 1115954 exm1571 C T . PASS FUNCOTATION=[TTLL10|hg19|chr1|1115954|1115954|NONSENSE||SNP|C|C|T|g.chr1:1115954C>T|ENST00000379290.1|+|7|771|c.598C>T|c.(598-600)Cga>Tga|p.R200*|0.6907730673316709|GGTCAAGAGCCGAGACAGCTA|TTLL10_ENST00000379289.1_NONSENSE_p.R200*/TTLL10_ENST00000379288.3_NONSENSE_p.R127*/TTLL10-AS1_ENST00000379317.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|TTLL10:254173|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|191284590|1115954|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000605040436000100|1|false|135|rs191284590|] +1 1120536 psy_rs77950429 G A . PASS FUNCOTATION=[TTLL10|hg19|chr1|1120536|1120536|INTRON||SNP|G|G|A|g.chr1:1120536G>A|ENST00000379290.1|+|||c.e13+47G>A|||0.6384039900249376|CCCTCGGGGCGGGGGTGTGTG|TTLL10_ENST00000379289.1_INTRON/TTLL10_ENST00000379288.3_THREE_PRIME_UTR|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471183|||HGNC:26693|tubulin_%20_tyrosine_%20_ligase_%20_like_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TTLL5|"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%2C__%20_member_%20_5"_%2C__%20_"tubulin_%20_tyrosine_%20_ligase-like_%20_family_%20_member_%20_10"|FLJ36119||1p36.33|2015-11-19|2005-07-29|2015-11-19|AK093438||254173|ENSG00000162571|15890843|NM_153254|779|Tubulin_%20_tyrosine_%20_ligase_%20_family|CCDS8_%2C__%20_CCDS44036|OTTHUMG00000000851|254173||NM_001130045|Q6ZVT0|ENSG00000162571|uc010nyg.2|TTL10_HUMAN||B1AMF6_%7C_Q5T2W4_%7C_Q5T2W5_%7C_Q8N9X2|Q6ZVT0|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)||||||true|false|0.9483_%2C_0.05172|false|false|1||false|true|false|TTLL10:254173|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|77950429|1120536|false|false|0|true|0|false|0.976578_%2C_0.0234219|false|true|false|SNV|true|0x050100880005150536000100|1|false|131|rs77950429|] +1 1138913 rs3819001 T C . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1138913|1138913|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:1138913T>C|ENST00000379268.2|-|5|||||0.6783042394014963|TTATTGAAGGTCCCCTGCAGC|TNFRSF18_ENST00000328596.6_THREE_PRIME_UTR|GBM(157_%3B_472_%20_1934_%20_13810_%20_14591_%20_35952)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_148902.1|NP_683700.1|HGNC:11914|TNF_%20_receptor_%20_superfamily_%20_member_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_18"|AITR_%2C__%20_GITR_%2C__%20_CD357||1p36.33|2016-10-05||2016-06-28|AF125304||8784|ENSG00000186891|9177197_%2C__%20_10037686|NM_004195|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS9_%2C__%20_CCDS10_%2C__%20_CCDS30552|OTTHUMG00000001414|8784|603905|NM_004195|Q9Y5U5|ENSG00000186891|uc001add.4|TNR18_HUMAN||B1AME1_%7C_O95851_%7C_Q5U0I4_%7C_Q9NYJ9|Q9Y5U5|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)||||true|false|0.8015_%2C_0.1985|false|false|1||false|true|false|TNFRSF18:8784|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3819001|1138913|true|false|0|true|0|false|0.781922_%2C_0.218078|false|true|false|SNV|true|0x05010080000515053f000100|1|false|107|rs3819001|] +1 1139062 exm1677 G A . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1139062|1139062|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:1139062G>A|ENST00000379268.2|-|5|||||0.685785536159601|CGCGGCCGCCGAACTGCATGG|TNFRSF18_ENST00000328596.6_MISSENSE_p.S226L|GBM(157_%3B_472_%20_1934_%20_13810_%20_14591_%20_35952)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_148902.1|NP_683700.1|HGNC:11914|TNF_%20_receptor_%20_superfamily_%20_member_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_18"|AITR_%2C__%20_GITR_%2C__%20_CD357||1p36.33|2016-10-05||2016-06-28|AF125304||8784|ENSG00000186891|9177197_%2C__%20_10037686|NM_004195|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS9_%2C__%20_CCDS10_%2C__%20_CCDS30552|OTTHUMG00000001414|8784|603905|NM_004195|Q9Y5U5|ENSG00000186891|uc001add.4|TNR18_HUMAN||B1AME1_%7C_O95851_%7C_Q5U0I4_%7C_Q9NYJ9|Q9Y5U5|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|TNFRSF18:8784|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200799216|1139062|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|true|false|SNV|true|0x050000800a05040436000100|1|false|137|rs200799216|] +1 1139268 exm1688 G A . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1139268|1139268|NONSENSE||SNP|G|G|A|g.chr1:1139268G>A|ENST00000379268.2|-|5|802|c.682C>T|c.(682-684)Cga>Tga|p.R228*|0.7007481296758105|TCTGCCGATCGCTCGCCCCGC|TNFRSF18_ENST00000379265.5_NONSENSE_p.R221*/TNFRSF18_ENST00000486728.1_NONSENSE_p.R156*/TNFRSF18_ENST00000328596.6_SILENT_p.S157S|GBM(157_%3B_472_%20_1934_%20_13810_%20_14591_%20_35952)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_148902.1|NP_683700.1|HGNC:11914|TNF_%20_receptor_%20_superfamily_%20_member_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_18"|AITR_%2C__%20_GITR_%2C__%20_CD357||1p36.33|2016-10-05||2016-06-28|AF125304||8784|ENSG00000186891|9177197_%2C__%20_10037686|NM_004195|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS9_%2C__%20_CCDS10_%2C__%20_CCDS30552|OTTHUMG00000001414|8784|603905|NM_004195|Q9Y5U5|ENSG00000186891|uc001add.4|TNR18_HUMAN||B1AME1_%7C_O95851_%7C_Q5U0I4_%7C_Q9NYJ9|Q9Y5U5|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)||||true|false||false|false|||false|false|false|TNFRSF18:8784|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|142584447|1139268|false|false|0|false|0|true|0.999107_%2C_0.000892918|false|false|false|SNV|true|0x050000000705040402000100|1|false|134|rs142584447|] +1 1140855 exm1726 C T . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1140855|1140855|MISSENSE||SNP|C|C|T|g.chr1:1140855C>T|ENST00000379268.2|-|2|325|c.205G>A|c.(205-207)Gag>Aag|p.E69K|0.6658354114713217|CAGTCCCACTCGGAACAGCAC|TNFRSF18_ENST00000379265.5_MISSENSE_p.E69K/TNFRSF18_ENST00000328596.6_MISSENSE_p.E69K/TNFRSF18_ENST00000486728.1_FIVE_PRIME_UTR|GBM(157_%3B_472_%20_1934_%20_13810_%20_14591_%20_35952)||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_148902.1|NP_683700.1|HGNC:11914|TNF_%20_receptor_%20_superfamily_%20_member_%20_18|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily_%2C__%20_member_%20_18"|AITR_%2C__%20_GITR_%2C__%20_CD357||1p36.33|2016-10-05||2016-06-28|AF125304||8784|ENSG00000186891|9177197_%2C__%20_10037686|NM_004195|471_%7C_782|CD_%20_molecules_%7C_Tumor_%20_necrosis_%20_factor_%20_receptor_%20_superfamily|CCDS9_%2C__%20_CCDS10_%2C__%20_CCDS30552|OTTHUMG00000001414|8784|603905|NM_004195|Q9Y5U5|ENSG00000186891|uc001add.4|TNR18_HUMAN||B1AME1_%7C_O95851_%7C_Q5U0I4_%7C_Q9NYJ9|Q9Y5U5|apoptotic_%20_process_%20_(GO:0006915)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_tumor_%20_necrosis_%20_factor-mediated_%20_signaling_%20_pathway_%20_(GO:0033209)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|tumor_%20_necrosis_%20_factor-activated_%20_receptor_%20_activity_%20_(GO:0005031)||||true|false|0.9992_%2C_0.0007987|false|false|0||false|false|false|TNFRSF18:8784|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|143092669|1140855|false|false|0|false|0|false|0.999107_%2C_0.000892918|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs143092669|] +1 1152917 exm1808 G A . PASS FUNCOTATION=[SDF4|hg19|chr1|1152917|1152917|MISSENSE||SNP|G|G|A|g.chr1:1152917G>A|ENST00000360001.6|-|7|1327|c.1064C>T|c.(1063-1065)gCg>gTg|p.A355V|0.7082294264339152|CACGCTGCGCGCGTAGTCCAC|SDF4_ENST00000263741.7_THREE_PRIME_UTR/TNFRSF4_ENST00000379236.3_FIVE_PRIME_FLANK/TNFRSF4_ENST00000453580.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||L79912|||HGNC:24188|stromal_%20_cell_%20_derived_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Cab45|"calcium_%20_binding_%20_protein"|1p36.33|2014-11-19|||||51150|ENSG00000078808|9254016_%2C__%20_8609160|NM_016176|863|EF-hand_%20_domain_%20_containing|CCDS12_%2C__%20_CCDS30553|OTTHUMG00000001812|51150|614282|NM_016176|Q9BRK5|ENSG00000078808|uc001adi.5|CAB45_HUMAN||B1AME5_%7C_B1AME6_%7C_B2RDF1_%7C_B4DSM1_%7C_Q53G52_%7C_Q53HQ9_%7C_Q8NBQ3_%7C_Q96AA1_%7C_Q9NZP7_%7C_Q9UN53|Q9BRK5|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_cerebellum_%20_development_%20_(GO:0021549)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_UV_%20_protection_%20_(GO:0009650)_%7C_zymogen_%20_granule_%20_exocytosis_%20_(GO:0070625)|cell_%20_projection_%20_(GO:0042995)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||true|false||false|false|||false|false|false|SDF4:51150|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|113021852|1152917|false|false|0|true|0|false|0.999863_%2C_0.000137372_%2C_.|false|true|false|SNV|true|0x050100800a05040502000100|1|false|132|rs113021852|] +1 1152971 exm1812 T C . PASS FUNCOTATION=[SDF4|hg19|chr1|1152971|1152971|MISSENSE||SNP|T|T|C|g.chr1:1152971T>C|ENST00000360001.6|-|7|1273|c.1010A>G|c.(1009-1011)gAg>gGg|p.E337G|0.6907730673316709|GAGCACCTCCTCGGGCTCCAG|SDF4_ENST00000263741.7_THREE_PRIME_UTR/TNFRSF4_ENST00000379236.3_FIVE_PRIME_FLANK/TNFRSF4_ENST00000453580.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||L79912|||HGNC:24188|stromal_%20_cell_%20_derived_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Cab45|"calcium_%20_binding_%20_protein"|1p36.33|2014-11-19|||||51150|ENSG00000078808|9254016_%2C__%20_8609160|NM_016176|863|EF-hand_%20_domain_%20_containing|CCDS12_%2C__%20_CCDS30553|OTTHUMG00000001812|51150|614282|NM_016176|Q9BRK5|ENSG00000078808|uc001adi.5|CAB45_HUMAN||B1AME5_%7C_B1AME6_%7C_B2RDF1_%7C_B4DSM1_%7C_Q53G52_%7C_Q53HQ9_%7C_Q8NBQ3_%7C_Q96AA1_%7C_Q9NZP7_%7C_Q9UN53|Q9BRK5|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_cerebellum_%20_development_%20_(GO:0021549)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_UV_%20_protection_%20_(GO:0009650)_%7C_zymogen_%20_granule_%20_exocytosis_%20_(GO:0070625)|cell_%20_projection_%20_(GO:0042995)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|SDF4:51150|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149492192|1152971|false|true|0|false|0|false|0.999347_%2C_0.000652517|false|true|false|SNV|true|0x050200800a05040426000100|1|false|134|rs149492192|] +1 1153047 exm1822 C T . PASS FUNCOTATION=[SDF4|hg19|chr1|1153047|1153047|MISSENSE||SNP|C|C|T|g.chr1:1153047C>T|ENST00000360001.6|-|7|1197|c.934G>A|c.(934-936)Gag>Aag|p.E312K|0.6633416458852868|GCGTTGTACTCGTTCATGGGG|SDF4_ENST00000263741.7_THREE_PRIME_UTR/TNFRSF4_ENST00000379236.3_FIVE_PRIME_FLANK/TNFRSF4_ENST00000453580.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||L79912|||HGNC:24188|stromal_%20_cell_%20_derived_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Cab45|"calcium_%20_binding_%20_protein"|1p36.33|2014-11-19|||||51150|ENSG00000078808|9254016_%2C__%20_8609160|NM_016176|863|EF-hand_%20_domain_%20_containing|CCDS12_%2C__%20_CCDS30553|OTTHUMG00000001812|51150|614282|NM_016176|Q9BRK5|ENSG00000078808|uc001adi.5|CAB45_HUMAN||B1AME5_%7C_B1AME6_%7C_B2RDF1_%7C_B4DSM1_%7C_Q53G52_%7C_Q53HQ9_%7C_Q8NBQ3_%7C_Q96AA1_%7C_Q9NZP7_%7C_Q9UN53|Q9BRK5|calcium_%20_ion-dependent_%20_exocytosis_%20_(GO:0017156)_%7C_cerebellum_%20_development_%20_(GO:0021549)_%7C_fat_%20_cell_%20_differentiation_%20_(GO:0045444)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_UV_%20_protection_%20_(GO:0009650)_%7C_zymogen_%20_granule_%20_exocytosis_%20_(GO:0070625)|cell_%20_projection_%20_(GO:0042995)_%7C_cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)||||true|false||false|false|||false|false|false|SDF4:51150|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201770843|1153047|false|true|0|false|0|false|0.999794_%2C_0.000206058|false|true|false|SNV|true|0x050200800a05040402000100|1|false|137|rs201770843|] +1 1178848 exm1965 G A . PASS FUNCOTATION=[FAM132A|hg19|chr1|1178848|1178848|NONSENSE||SNP|G|G|A|g.chr1:1178848G>A|ENST00000330388.2|-|5|648|c.616C>T|c.(616-618)Cag>Tag|p.Q206*|0.71571072319202|GCAGAGAACTGGAAGATGCCG||||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC089443|NM_001014980.2|NP_001014980.1||||||||||||||||||||||||||||||ADIPL_HUMAN||Q5EBL5|Q5T7M4|negative_%20_regulation_%20_of_%20_gluconeogenesis_%20_(GO:0045721)_%7C_negative_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050728)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_secretion_%20_involved_%20_in_%20_cellular_%20_response_%20_to_%20_glucose_%20_stimulus_%20_(GO:0035774)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051897)_%7C_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046324)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|hormone_%20_activity_%20_(GO:0005179)||||true|false|0.9968_%2C_0.003195|false|false|1||false|false|false|FAM132A:388581|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|115005664|1178848|false|false|0|false|0|false|0.993474_%2C_0.00652562|false|false|false|SNV|true|0x050000000605040436000100|1|false|132|rs115005664|] +1 1179619 exm1987 C A . PASS FUNCOTATION=[FAM132A|hg19|chr1|1179619|1179619|NONSENSE||SNP|C|C|A|g.chr1:1179619C>A|ENST00000330388.2|-|3|363|c.331G>T|c.(331-333)Gaa>Taa|p.E111*|0.6982543640897756|GCGGTCACTTCTGCACCTGGA||||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC089443|NM_001014980.2|NP_001014980.1||||||||||||||||||||||||||||||ADIPL_HUMAN||Q5EBL5|Q5T7M4|negative_%20_regulation_%20_of_%20_gluconeogenesis_%20_(GO:0045721)_%7C_negative_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050728)_%7C_positive_%20_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046326)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0046628)_%7C_positive_%20_regulation_%20_of_%20_insulin_%20_secretion_%20_involved_%20_in_%20_cellular_%20_response_%20_to_%20_glucose_%20_stimulus_%20_(GO:0035774)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051897)_%7C_regulation_%20_of_%20_glucose_%20_import_%20_(GO:0046324)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|hormone_%20_activity_%20_(GO:0005179)||||true|false||false|false|||false|false|false|FAM132A:388581|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|201741650|1179619|false|false|0|false|0|false|0.999966_%2C_3.43454e-005|false|false|false|SNV|true|0x050000000605040402000100|1|false|137|rs201741650|] +1 1211292 exm-rs6685064 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1211292|1211292|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:1211292C>T|ENST00000338555.2|+||||||0.44389027431421446|ATGTTATAGGCAGATTCAAAA|UBE2J2_ENST00000347370.2_FIVE_PRIME_FLANK/UBE2J2_ENST00000348298.7_FIVE_PRIME_FLANK/UBE2J2_ENST00000349431.6_FIVE_PRIME_FLANK/UBE2J2_ENST00000360466.2_FIVE_PRIME_FLANK/SCNN1D_ENST00000379116.5_FIVE_PRIME_FLANK/UBE2J2_ENST00000400929.2_FIVE_PRIME_FLANK/UBE2J2_ENST00000400930.4_FIVE_PRIME_FLANK/RP5-902P8.10_ENST00000453732.1_LINCRNA/UBE2J2_ENST00000491779.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U38254|||HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.5695_%2C_0.4305|false|false|1||false|true|false|LOC101928895:101928895|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6685064|1211292|false|false|0|true|0|false|0.693592_%2C_0.306408|false|false|false|SNV|true|0x05010008000515053f000100|1|false|116|rs6685064|] +1 1216848 exm2059 G A . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1216848|1216848|SILENT||SNP|G|G|A|g.chr1:1216848G>A|ENST00000379116.5|+|3|361|c.135G>A|c.(133-135)tcG>tcA|p.S45S|0.6633416458852868|AGCTGGGTTCGCCCCACCCCA|SCNN1D_ENST00000338555.2_FIVE_PRIME_UTR/SCNN1D_ENST00000325425.8_FIVE_PRIME_FLANK/SCNN1D_ENST00000400928.3_FIVE_PRIME_FLANK/SCNN1D_ENST00000467651.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.9928_%2C_0.007188|false|false|1||false|false|false|SCNN1D:6339|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|34385715|1216848|true|false|0|true|0|true|0.9932_%2C_0.00679992|false|false|false|SNV|true|0x050100000305040536000100|1|false|126|rs34385715|] +1 1219382 exm2062 C G . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1219382|1219382|MISSENSE||SNP|C|C|G|g.chr1:1219382C>G|ENST00000379116.5|+|5|602|c.376C>G|c.(376-378)Cag>Gag|p.Q126E|0.6758104738154613|CATCCTGCTTCAGAGCTGCCA|SCNN1D_ENST00000325425.8_MISSENSE_p.Q28E/SCNN1D_ENST00000338555.2_FIVE_PRIME_UTR/SCNN1D_ENST00000400928.3_FIVE_PRIME_UTR/SCNN1D_ENST00000467651.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.9798_%2C_0.01518_%2C_0.004992|false|false|1||false|false|false|SCNN1D:6339|false|true|false|true|true|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|114582555|1219382|false|false|0|true|0|false|0.975338_%2C_0.0246617_%2C_.|false|false|false|SNV|true|0x050100000e05140436000100|1|false|132|rs114582555|] +1 1219401 exm2063 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1219401|1219401|MISSENSE||SNP|C|C|T|g.chr1:1219401C>T|ENST00000379116.5|+|5|621|c.395C>T|c.(394-396)cCg>cTg|p.P132L|0.6733167082294265|CAGCTGCCCCCGCAATGGCTG|SCNN1D_ENST00000325425.8_MISSENSE_p.P34L/SCNN1D_ENST00000338555.2_FIVE_PRIME_UTR/SCNN1D_ENST00000400928.3_FIVE_PRIME_UTR/SCNN1D_ENST00000467651.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|SCNN1D:6339|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201680784|1219401|false|false|0|false|0|false|0.999176_%2C_0.000824346|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs201680784|] +1 1222519 exm2129 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1222519|1222519|NONSENSE||SNP|C|C|T|g.chr1:1222519C>T|ENST00000379116.5|+|9|1376|c.1150C>T|c.(1150-1152)Cga>Tga|p.R384*|0.6807980049875312|CTGCTTTTACCGAGGCTACAC|SCNN1D_ENST00000338555.2_NONSENSE_p.R220*/SCNN1D_ENST00000325425.8_NONSENSE_p.R286*/SCNN1D_ENST00000400928.3_NONSENSE_p.R220*|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL162741|NM_001130413.3|NP_001123885.2|HGNC:10601|sodium_%20_channel_%20_epithelial_%20_1_%20_delta_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"sodium_%20_channel_%2C__%20_nonvoltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta"_%2C__%20_"sodium_%20_channel_%2C__%20_non-voltage-gated_%20_1_%2C__%20_delta_%20_subunit"_%2C__%20_"sodium_%20_channel_%2C__%20_non_%20_voltage_%20_gated_%20_1_%20_delta_%20_subunit"|ENaCdelta_%2C__%20_dNaCh||1p36.33|2016-10-05||2016-02-05|U38254||6339|ENSG00000162572|8661065_%2C__%20_26772908|NM_002978|185|Sodium_%20_channels_%20_epithelial|CCDS44037|OTTHUMG00000002081|6339|601328|NM_001130413|P51172|ENSG00000162572|uc001adt.2|SCNND_HUMAN|Amiloride(DB00594)_%7C_Triamterene(DB00384)|A9Z1X6_%7C_B1PS44_%7C_Q08AQ3_%7C_Q09HT0_%7C_Q5T7L3_%7C_Q8NA24|P51172|ion_%20_transmembrane_%20_transport_%20_(GO:0034220)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050909)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ligand-gated_%20_sodium_%20_channel_%20_activity_%20_(GO:0015280)||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|SCNN1D:6339|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|148588796|1222519|false|true|0|true|0|false|0.998661_%2C_0.00133938|false|false|false|SNV|true|0x050300000605040436000100|1|false|134|rs148588796|] +1 1227897 rs3737721 A G . PASS FUNCOTATION=[ACAP3|hg19|chr1|1227897|1227897|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:1227897A>G|ENST00000354700.5|-|24|||||0.655860349127182|CTTCAGGGTCACAGGCAGCAG|ACAP3_ENST00000353662.3_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_030649.2|NP_085152.2|HGNC:16754|ArfGAP_%20_with_%20_coiled-coil_%2C__%20_ankyrin_%20_repeat_%20_and_%20_PH_%20_domains_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CENTB5|"centaurin_%2C__%20_beta_%20_5"|KIAA1716||1p36.33|2016-10-05|2008-09-22|2008-09-22|AF411981||116983|ENSG00000131584||NM_030649|403_%7C_682_%7C_395_%7C_1291|Ankyrin_%20_repeat_%20_domain_%20_containing_%7C_Pleckstrin_%20_homology_%20_domain_%20_containing_%7C_ArfGAPs_%7C_BAR-PH_%20_domain_%20_containing|CCDS19|OTTHUMG00000002235|116983||NM_030649|Q96P50|ENSG00000131584|uc001aeb.3|ACAP3_HUMAN||B1AMF5_%7C_Q5TA42_%7C_Q5TA43_%7C_Q86UT3_%7C_Q9BSR9_%7C_Q9C0E7|Q96P50|regulation_%20_of_%20_ARF_%20_GTPase_%20_activity_%20_(GO:0032312)||ARF_%20_GTPase_%20_activator_%20_activity_%20_(GO:0008060)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.772_%2C_0.228|false|false|1||false|true|false|SCNN1D:6339_%7C_ACAP3:116983|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3737721|1227897|true|false|0|true|0|false|0.918916_%2C_0.0810839|false|true|false|SNV|true|0x05010088000515053f000100|1|false|107|rs3737721|] +1 1249193 indel.166 C CGCAA . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1249193|1249194|FRAME_SHIFT_INS||INS|-|-|GCAA|g.chr1:1249193_1249194insGCAA|ENST00000435064.1|-|9|959|c.875_876insTTGC|c.(874-876)aagfs|p.K292fs|0.6325|CACGAAAGTCTTGCGGATCT|CPSF3L_ENST00000421495.2_FRAME_SHIFT_INS_p.K34fs/CPSF3L_ENST00000450926.2_FRAME_SHIFT_INS_p.K270fs/CPSF3L_ENST00000411962.1_FRAME_SHIFT_INS_p.K194fs/CPSF3L_ENST00000419704.1_FRAME_SHIFT_INS_p.K191fs/CPSF3L_ENST00000540437.1_FRAME_SHIFT_INS_p.K298fs/CPSF3L_ENST00000545578.1_FRAME_SHIFT_INS_p.K263fs/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|true|752230074|1249193|false|false|0|false|0|false||false|false|false|DIV|false|0x050000021205000402000200|1|false|144|rs752230074|] +1 1250794 variant.168 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1250794|1250794|NONSENSE||SNP|G|G|A|g.chr1:1250794G>A|ENST00000435064.1|-|6|636|c.553C>T|c.(553-555)Cga>Tga|p.R185*|0.6084788029925187|CCTAAGTGTCGGTCTGGGGTC|CPSF3L_ENST00000450926.2_NONSENSE_p.R163*/CPSF3L_ENST00000411962.1_NONSENSE_p.R87*/CPSF3L_ENST00000419704.1_NONSENSE_p.R84*/CPSF3L_ENST00000421495.2_FIVE_PRIME_UTR/CPSF3L_ENST00000540437.1_NONSENSE_p.R191*/CPSF3L_ENST00000545578.1_NONSENSE_p.R156*/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|false|false|false|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|373723769|1250794|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000e05040402000100|1|false|138|rs373723769|] +1 1254678 exm2656 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1254678|1254678|NONSENSE||SNP|G|G|A|g.chr1:1254678G>A|ENST00000435064.1|-|4|510|c.427C>T|c.(427-429)Cag>Tag|p.Q143*|0.628428927680798|AACCTGACCTGGACCGTCTGG|CPSF3L_ENST00000450926.2_NONSENSE_p.Q143*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.Q149*/CPSF3L_ENST00000545578.1_NONSENSE_p.Q114*/RP5-890O3.9_ENST00000444968.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|200207309|1254678|false|true|0|false|0|false||false|false|false|SNV|false|0x0502000a0605000402000100|1|false|137|rs200207309|] +1 1256453 exm2676 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1256453|1256453|NONSENSE||SNP|G|G|A|g.chr1:1256453G>A|ENST00000435064.1|-|2|132|c.49C>T|c.(49-51)Cga>Tga|p.R17*|0.6458852867830424|ATGCAGCTTCGGCCCACGTCC|CPSF3L_ENST00000450926.2_NONSENSE_p.R17*/CPSF3L_ENST00000419704.1_NONSENSE_p.R17*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.R23*/CPSF3L_ENST00000545578.1_FIVE_PRIME_UTR/GLTPD1_ENST00000343938.4_FIVE_PRIME_FLANK/RP5-890O3.9_ENST00000444968.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK/GLTPD1_ENST00000464957.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|CPSF3L:54973|false|true|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|200498230|1256453|false|true|0|false|0|false|0.999897_%2C_0.000103029|false|false|true|SNV|true|0x050200480605040436000100|1|false|137|rs200498230|] +1 1366830 rs873927 A G . PASS FUNCOTATION=[VWA1|hg19|chr1|1366830|1366830|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:1366830A>G|ENST00000338660.5|+||||||0.6633416458852868|CCACTTCAGGACCCTGGGTCC|VWA1_ENST00000404702.3_FIVE_PRIME_FLANK/VWA1_ENST00000476993.1_FIVE_PRIME_FLANK/RP4-758J18.10_ENST00000417917.1_LINCRNA|||||||||||||||||||||||||22|breast(11)_%7C_large_intestine(11)|||||||CH471183|||HGNC:30910|von_%20_Willebrand_%20_factor_%20_A_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ22215_%2C__%20_VWA-1_%2C__%20_WARP||1p36.33|2016-04-25|||BC059409||64856|ENSG00000179403|14527666_%2C__%20_12062410|NM_022834|555|Fibronectin_%20_type_%20_III_%20_domain_%20_containing|CCDS27_%2C__%20_CCDS28|OTTHUMG00000002975|64856|611901|NM_022834|Q6PCB0|ENSG00000179403|uc001afs.4|VWA1_HUMAN||A8K692_%7C_B3KUA1_%7C_E9PB53_%7C_Q7L5D7_%7C_Q9H6J5|Q6PCB0|behavioral_%20_response_%20_to_%20_pain_%20_(GO:0048266)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)|basement_%20_membrane_%20_(GO:0005604)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_interstitial_%20_matrix_%20_(GO:0005614)|||||true|false|0.3157_%2C_0.6843|false|false|1||false|true|false|LOC102724312:102724312|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|873927|1366830|true|false|0|true|0|false|0.497733_%2C_0.502267|false|false|false|SNV|true|0x050100080005150537000100|1|false|92|rs873927|] +1 1550992 exm3957 C A . PASS FUNCOTATION=[MIB2|hg19|chr1|1550992|1550992|NONSENSE||SNP|C|C|A|g.chr1:1550992C>A|ENST00000505820.2|+|1|170|c.153C>A|c.(151-153)tgC>tgA|p.C51*|0.7630922693266833|TGGCGCGATGCGGGCCGTCCT|MIB2_ENST00000520777.1_NONSENSE_p.C51*/MIB2_ENST00000355826.5_NONSENSE_p.C51*/MIB2_ENST00000518681.1_NONSENSE_p.C51*/MIB2_ENST00000357210.4_FIVE_PRIME_UTR/MIB2_ENST00000360522.4_FIVE_PRIME_UTR/MIB2_ENST00000378710.3_FIVE_PRIME_UTR/MIB2_ENST00000378708.1_FIVE_PRIME_FLANK/MIB2_ENST00000378712.1_FIVE_PRIME_FLANK/MIB2_ENST00000504599.1_FIVE_PRIME_FLANK/RP11-345P4.9_ENST00000607222.1_RNA|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC037542|||HGNC:30577|mindbomb_%20_E3_%20_ubiquitin_%20_protein_%20_ligase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZZANK1|"zinc_%20_finger_%2C__%20_ZZ_%20_type_%20_with_%20_ankyrin_%20_repeat_%20_domain_%20_1"_%2C__%20_"mindbomb_%20_homolog_%20_2_%20_(Drosophila)"|skeletrophin_%2C__%20_ZZZ5_%2C__%20_FLJ39787||1p36.33|2016-04-25|2005-04-01|2012-02-23|AK097106||142678|ENSG00000197530|12761501|NM_080875|91_%7C_403|Zinc_%20_fingers_%20_ZZ-type_%7C_Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS41224_%2C__%20_CCDS53261_%2C__%20_CCDS53262_%2C__%20_CCDS53263_%2C__%20_CCDS53264|OTTHUMG00000074647|142678|611141|NM_001170686|Q96AX9|ENSG00000197530|uc001agg.4|MIB2_HUMAN||A2AGM5_%7C_A2AGM6_%7C_B3KV93_%7C_B3KVF4_%7C_B3KXY1_%7C_B4DZ57_%7C_E9PGU1_%7C_E9PHQ1_%7C_F8WA73_%7C_J3KNZ7_%7C_Q7Z437_%7C_Q8IY62_%7C_Q8N786_%7C_Q8N897_%7C_Q8N8R2_%7C_Q8N911_%7C_Q8NB36_%7C_Q8NCY1_%7C_Q8NG59_%7C_Q8NG60_%7C_Q8NG61_%7C_Q8NI59_%7C_Q8WYN1|Q96AX9|Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)|early_%20_endosome_%20_(GO:0005769)_%7C_ubiquitin_%20_ligase_%20_complex_%20_(GO:0000151)|ligase_%20_activity_%20_(GO:0016874)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false||false|false|||false|false|false|MIB2:142678|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|199741261|1550992|false|false|0|true|0|false|0.998798_%2C_0.00120201|false|false|false|SNV|true|0x050100020605040402000100|1|false|137|rs199741261|] +1 1551927 exm3962 T C . PASS FUNCOTATION=[MIB2|hg19|chr1|1551927|1551927|MISSENSE||SNP|T|T|C|g.chr1:1551927T>C|ENST00000505820.2|+|2|231|c.214T>C|c.(214-216)Ttc>Ctc|p.F72L|0.6708229426433915|GTCCCAAAGTTTCCAGGCATC|MIB2_ENST00000520777.1_MISSENSE_p.F72L/MIB2_ENST00000355826.5_MISSENSE_p.F72L/MIB2_ENST00000504599.1_FIVE_PRIME_UTR/MIB2_ENST00000518681.1_MISSENSE_p.F72L/MIB2_ENST00000378712.1_FIVE_PRIME_UTR/MIB2_ENST00000357210.4_MISSENSE_p.F15L/MIB2_ENST00000360522.4_MISSENSE_p.F15L/MIB2_ENST00000378710.3_MISSENSE_p.F15L/MIB2_ENST00000378708.1_FIVE_PRIME_FLANK/RP11-345P4.9_ENST00000607222.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC037542|||HGNC:30577|mindbomb_%20_E3_%20_ubiquitin_%20_protein_%20_ligase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZZANK1|"zinc_%20_finger_%2C__%20_ZZ_%20_type_%20_with_%20_ankyrin_%20_repeat_%20_domain_%20_1"_%2C__%20_"mindbomb_%20_homolog_%20_2_%20_(Drosophila)"|skeletrophin_%2C__%20_ZZZ5_%2C__%20_FLJ39787||1p36.33|2016-04-25|2005-04-01|2012-02-23|AK097106||142678|ENSG00000197530|12761501|NM_080875|91_%7C_403|Zinc_%20_fingers_%20_ZZ-type_%7C_Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS41224_%2C__%20_CCDS53261_%2C__%20_CCDS53262_%2C__%20_CCDS53263_%2C__%20_CCDS53264|OTTHUMG00000074647|142678|611141|NM_001170686|Q96AX9|ENSG00000197530|uc001agg.4|MIB2_HUMAN||A2AGM5_%7C_A2AGM6_%7C_B3KV93_%7C_B3KVF4_%7C_B3KXY1_%7C_B4DZ57_%7C_E9PGU1_%7C_E9PHQ1_%7C_F8WA73_%7C_J3KNZ7_%7C_Q7Z437_%7C_Q8IY62_%7C_Q8N786_%7C_Q8N897_%7C_Q8N8R2_%7C_Q8N911_%7C_Q8NB36_%7C_Q8NCY1_%7C_Q8NG59_%7C_Q8NG60_%7C_Q8NG61_%7C_Q8NI59_%7C_Q8WYN1|Q96AX9|Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)|early_%20_endosome_%20_(GO:0005769)_%7C_ubiquitin_%20_ligase_%20_complex_%20_(GO:0000151)|ligase_%20_activity_%20_(GO:0016874)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.523_%2C_0.477|false|false|1||false|true|true|MIB2:142678|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|7418389|1551927|true|false|0|true|0|false|0.374373_%2C_0.625627|false|false|true|SNV|true|0x050100400a0517053e000100|1|false|116|rs7418389|] +1 1551952 exm3966 G A . PASS FUNCOTATION=[MIB2|hg19|chr1|1551952|1551952|MISSENSE||SNP|G|G|A|g.chr1:1551952G>A|ENST00000505820.2|+|2|256|c.239G>A|c.(238-240)aGg>aAg|p.R80K|0.6633416458852868|CTGCAGCCCAGGAGCCTCAAG|MIB2_ENST00000520777.1_MISSENSE_p.R80K/MIB2_ENST00000355826.5_MISSENSE_p.R80K/MIB2_ENST00000504599.1_FIVE_PRIME_UTR/MIB2_ENST00000518681.1_MISSENSE_p.R80K/MIB2_ENST00000378712.1_FIVE_PRIME_UTR/MIB2_ENST00000357210.4_MISSENSE_p.R23K/MIB2_ENST00000360522.4_MISSENSE_p.R23K/MIB2_ENST00000378710.3_MISSENSE_p.R23K/MIB2_ENST00000378708.1_FIVE_PRIME_FLANK/RP11-345P4.9_ENST00000607222.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC037542|||HGNC:30577|mindbomb_%20_E3_%20_ubiquitin_%20_protein_%20_ligase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZZANK1|"zinc_%20_finger_%2C__%20_ZZ_%20_type_%20_with_%20_ankyrin_%20_repeat_%20_domain_%20_1"_%2C__%20_"mindbomb_%20_homolog_%20_2_%20_(Drosophila)"|skeletrophin_%2C__%20_ZZZ5_%2C__%20_FLJ39787||1p36.33|2016-04-25|2005-04-01|2012-02-23|AK097106||142678|ENSG00000197530|12761501|NM_080875|91_%7C_403|Zinc_%20_fingers_%20_ZZ-type_%7C_Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS41224_%2C__%20_CCDS53261_%2C__%20_CCDS53262_%2C__%20_CCDS53263_%2C__%20_CCDS53264|OTTHUMG00000074647|142678|611141|NM_001170686|Q96AX9|ENSG00000197530|uc001agg.4|MIB2_HUMAN||A2AGM5_%7C_A2AGM6_%7C_B3KV93_%7C_B3KVF4_%7C_B3KXY1_%7C_B4DZ57_%7C_E9PGU1_%7C_E9PHQ1_%7C_F8WA73_%7C_J3KNZ7_%7C_Q7Z437_%7C_Q8IY62_%7C_Q8N786_%7C_Q8N897_%7C_Q8N8R2_%7C_Q8N911_%7C_Q8NB36_%7C_Q8NCY1_%7C_Q8NG59_%7C_Q8NG60_%7C_Q8NG61_%7C_Q8NI59_%7C_Q8WYN1|Q96AX9|Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)|early_%20_endosome_%20_(GO:0005769)_%7C_ubiquitin_%20_ligase_%20_complex_%20_(GO:0000151)|ligase_%20_activity_%20_(GO:0016874)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.9982_%2C_0.001797|false|false|1||false|false|false|MIB2:142678|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199576573|1551952|false|false|0|false|0|false|0.997527_%2C_0.0024727|false|false|true|SNV|true|0x050000400a05040426000100|1|false|137|rs199576573|] +1 1558792 exm3973 T C . PASS FUNCOTATION=[MIB2|hg19|chr1|1558792|1558792|MISSENSE||SNP|T|T|C|g.chr1:1558792T>C|ENST00000505820.2|+|3|322|c.305T>C|c.(304-306)aTg>aCg|p.M102T|0.7281795511221946|CGGCCCACCATGGACCCCTCT|MIB2_ENST00000520777.1_MISSENSE_p.M102T/MIB2_ENST00000504599.1_START_CODON_SNP_p.M1T/MIB2_ENST00000355826.5_INTRON/MIB2_ENST00000378708.1_INTRON/MIB2_ENST00000518681.1_MISSENSE_p.M102T/MIB2_ENST00000378712.1_INTRON/MIB2_ENST00000357210.4_MISSENSE_p.M45T/MIB2_ENST00000360522.4_MISSENSE_p.M45T/MIB2_ENST00000378710.3_MISSENSE_p.M45T/MIB2_ENST00000512004.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC037542|||HGNC:30577|mindbomb_%20_E3_%20_ubiquitin_%20_protein_%20_ligase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZZANK1|"zinc_%20_finger_%2C__%20_ZZ_%20_type_%20_with_%20_ankyrin_%20_repeat_%20_domain_%20_1"_%2C__%20_"mindbomb_%20_homolog_%20_2_%20_(Drosophila)"|skeletrophin_%2C__%20_ZZZ5_%2C__%20_FLJ39787||1p36.33|2016-04-25|2005-04-01|2012-02-23|AK097106||142678|ENSG00000197530|12761501|NM_080875|91_%7C_403|Zinc_%20_fingers_%20_ZZ-type_%7C_Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS41224_%2C__%20_CCDS53261_%2C__%20_CCDS53262_%2C__%20_CCDS53263_%2C__%20_CCDS53264|OTTHUMG00000074647|142678|611141|NM_001170686|Q96AX9|ENSG00000197530|uc001agg.4|MIB2_HUMAN||A2AGM5_%7C_A2AGM6_%7C_B3KV93_%7C_B3KVF4_%7C_B3KXY1_%7C_B4DZ57_%7C_E9PGU1_%7C_E9PHQ1_%7C_F8WA73_%7C_J3KNZ7_%7C_Q7Z437_%7C_Q8IY62_%7C_Q8N786_%7C_Q8N897_%7C_Q8N8R2_%7C_Q8N911_%7C_Q8NB36_%7C_Q8NCY1_%7C_Q8NG59_%7C_Q8NG60_%7C_Q8NG61_%7C_Q8NI59_%7C_Q8WYN1|Q96AX9|Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)|early_%20_endosome_%20_(GO:0005769)_%7C_ubiquitin_%20_ligase_%20_complex_%20_(GO:0000151)|ligase_%20_activity_%20_(GO:0016874)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.2264_%2C_0.7736_%2C_.|false|false|1||false|true|false|MIB2:142678|true|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|12755088|1558792|false|false|0|true|0|false||false|false|false|SNV|true|0x050100080a0515053e000100|1|false|121|rs12755088|] +1 1647785 indel.249 CT C . PASS FUNCOTATION=[CDK11A|hg19|chr1|1647786|1647786|SPLICE_SITE|FRAME_SHIFT_DEL|DEL|T|T|-|g.chr1:1647786delT|ENST00000358779.5|-|5|538|c.457delA|c.(457-459)aggfs|p.R153fs|0.48129675810473815|CCCACTCACCTTTCTCTCCTG|CDK11A_ENST00000356200.3_SPLICE_SITE_p.R129fs/CDK11A_ENST00000378633.1_SPLICE_SITE_p.R153fs/CDK11A_ENST00000404249.3_SPLICE_SITE_p.R163fs/CDK11A_ENST00000357760.2_SPLICE_SITE_p.R153fs/CDK11A_ENST00000378638.2_SPLICE_SITE_p.R129fs/CDK11A_ENST00000378635.3_SPLICE_SITE_p.S153fs/RP1-283E3.8_ENST00000598846.1_SPLICE_SITE|Pancreas(186_%3B_965_%20_2119_%20_30274_%20_40311_%20_50569)||||||||||||||||||||||||15|oesophagus(1)_%7C_stomach(14)|||||||U07705|NM_033529.2|NP_277071.2|HGNC:1730|cyclin_%20_dependent_%20_kinase_%20_11A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CDC2L3_%2C__%20_CDC2L2|"cell_%20_division_%20_cycle_%20_2-like_%20_2"_%2C__%20_"cell_%20_division_%20_cycle_%20_2-like_%20_2_%20_(PITSLRE_%20_proteins)"|PITSLRE_%2C__%20_CDK11-p110_%2C__%20_CDK11-p58_%2C__%20_CDK11-p46_%2C__%20_p58GTA||1p36.33|2016-06-08|2009-12-16|2016-06-08|AF067522||728642|ENSG00000008128|7920654_%2C__%20_9750192_%2C__%20_19884882|NM_024011|496|Cyclin_%20_dependent_%20_kinases|CCDS44042_%2C__%20_CCDS44043_%2C__%20_CCDS81253_%2C__%20_CCDS81254|OTTHUMG00000000703|728642|116951|NM_001313896|Q9UQ88|ENSG00000008128|uc009vks.4|CD11A_HUMAN||O95227_%7C_O95228_%7C_O96012_%7C_Q12821_%7C_Q12853_%7C_Q12854_%7C_Q2TAJ0_%7C_Q5QPR0_%7C_Q5QPR1_%7C_Q5QPR2_%7C_Q9UBC4_%7C_Q9UBI3_%7C_Q9UEI1_%7C_Q9UEI2_%7C_Q9UP53_%7C_Q9UP54_%7C_Q9UP55_%7C_Q9UP56_%7C_Q9UQ86_%7C_Q9UQ87_%7C_Q9UQ89|Q9UQ88|apoptotic_%20_process_%20_(GO:0006915)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0001558)_%7C_regulation_%20_of_%20_mRNA_%20_processing_%20_(GO:0050684)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004693)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||true|false||false|false|||false|false|false|CDK11A:728642|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|748188287|1647786|false|false|0|false|0|false||false|false|true|DIV|false|0x050000401205000402000200|1|false|144|rs748188287|] +1 2146966 rs7512482 T C . PASS FUNCOTATION=[AL590822.1|hg19|chr1|2146966|2146966|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:2146966T>C|ENST00000545087.1|-||||||0.6758104738154613|AGGACCTGCGTGAAGGAGCCC|RP11-181G12.4_ENST00000442483.2_LINCRNA/RP11-181G12.5_ENST00000420964.1_FIVE_PRIME_FLANK/C1orf86_ENST00000487186.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||AL590822||||||||||||||||||||||||||||||||||||||||||true|false|0.7963_%2C_0.2037|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7512482|2146966|false|false|0|true|0|false|0.761969_%2C_0.238031|false|false|false|SNV|true|0x05010000000517053f000100|1|false|116|rs7512482|] +1 2327075 rs3736330 C T . PASS FUNCOTATION=[RER1|hg19|chr1|2327075|2327075|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:2327075C>T|ENST00000488353.1|+|1|||||0.5211970074812967|TACTTTTTCCCGAACAATTCA|RER1_ENST00000605895.1_INTRON/RER1_ENST00000378512.1_INTRON/RER1_ENST00000378518.1_INTRON/RER1_ENST00000378513.3_INTRON/MORN1_ENST00000378529.3_FIVE_PRIME_FLANK/MORN1_ENST00000378531.3_FIVE_PRIME_FLANK/MORN1_ENST00000606372.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|||HGNC:30309|retention_%20_in_%20_endoplasmic_%20_reticulum_%20_sorting_%20_receptor_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"RER1_%20_retention_%20_in_%20_endoplasmic_%20_reticulum_%20_1_%20_homolog_%20_(S._%20_cerevisiae)"|||1p36.32|2016-10-05||2013-10-18|AF157324||11079|ENSG00000157916|9309388_%2C__%20_17668005||||CCDS41232|OTTHUMG00000001403|11079||NM_007033|O15258|ENSG00000157916|uc001aje.3|RER1_HUMAN||O95322|O15258|positive_%20_regulation_%20_of_%20_establishment_%20_of_%20_protein_%20_localization_%20_to_%20_plasma_%20_membrane_%20_(GO:0090004)_%7C_retrograde_%20_vesicle-mediated_%20_transport_%2C__%20_Golgi_%20_to_%20_ER_%20_(GO:0006890)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)|cell_%20_surface_%20_(GO:0009986)_%7C_endoplasmic_%20_reticulum-Golgi_%20_intermediate_%20_compartment_%20_(GO:0005793)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_Golgi_%20_membrane_%20_(GO:0030173)|||||true|false|0.7638_%2C_0.2362|false|false|1||false|true|false|RER1:11079|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3736330|2327075|false|false|0|true|0|false|0.789718_%2C_0.210282|false|false|false|SNV|true|0x050100080005150537000100|1|false|107|rs3736330|] +1 2408058 exm5658 C T . PASS FUNCOTATION=[PLCH2|hg19|chr1|2408058|2408058|MISSENSE||SNP|C|C|T|g.chr1:2408058C>T|ENST00000419816.2|+|1|305|c.31C>T|c.(31-33)Cgg>Tgg|p.R11W|0.6907730673316709|CCCCGACAGCCGGACCAAGGG|PLCH2_ENST00000449969.1_INTRON/PLCH2_ENST00000378486.3_MISSENSE_p.R11W/PLCH2_ENST00000378488.3_MISSENSE_p.R11W/PLCH2_ENST00000288766.5_FIVE_PRIME_UTR|||||||||||||||||||||||||228|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(46)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_skin(43)|||||||DQ176850|||HGNC:29037|phospholipase_%20_C_%20_eta_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PLCL4|"phospholipase_%20_C-like_%20_4"_%2C__%20_"phospholipase_%20_C_%2C__%20_eta_%20_2"|KIAA0450_%2C__%20_PLCeta2_%2C__%20_RP3-395M20.1_%2C__%20_PLC-eta2|"1-phosphatidylinositol_%20_4_%2C_5-bisphosphate_%20_phosphodiesterase_%20_eta-2"|1p36.32|2015-11-17|2006-03-16|2015-11-17|AB007919|3.1.4.11|9651|ENSG00000149527|15899900|NM_014638|467_%7C_863|Phospholipases_%7C_EF-hand_%20_domain_%20_containing|CCDS59959|OTTHUMG00000000719|9651|612836|NM_001303012|O75038|ENSG00000149527|uc057bmp.1|PLCH2_HUMAN||A2VCM3_%7C_B9DI80_%7C_Q3LUA8_%7C_Q86XJ2_%7C_Q86XU1_%7C_Q86YU7_%7C_Q8TEH5_%7C_Q8WUS6|O75038|inositol_%20_phosphate_%20_metabolic_%20_process_%20_(GO:0043647)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_lipid_%20_catabolic_%20_process_%20_(GO:0016042)_%7C_phosphatidylinositol_%20_metabolic_%20_process_%20_(GO:0046488)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytoplasm_%20_(GO:0005737)_%7C_plasma_%20_membrane_%20_(GO:0005886)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_phosphatidylinositol_%20_phospholipase_%20_C_%20_activity_%20_(GO:0004435)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false||false|false|||false|false|false|PLCH2:9651|false|true|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199848920|2408058|false|false|0|false|0|false||false|false|true|SNV|true|0x050000480a05040402000100|1|false|137|rs199848920|] +1 2450733 indel.338 AG A . PASS FUNCOTATION=[PANK4|hg19|chr1|2450734|2450734|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:2450734delG|ENST00000378466.3|-|7|897|c.883delC|c.(883-885)ctgfs|p.L295fs|0.6059850374064838|ATGTGCAGCAGGCTCTTCGCC|PANK4_ENST00000435556.3_FRAME_SHIFT_DEL_p.L256fs|||||||||||||||||||||||||276|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(22)_%7C_large_intestine(37)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_upper_aerodigestive_tract(121)|||||||CH471183|NM_018216.1|NP_060686.1|HGNC:19366|pantothenate_%20_kinase_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10782||1p36.32|2015-08-25|||AK001644||55229|ENSG00000157881|11479594||||CCDS42|OTTHUMG00000000791|55229|606162|NM_018216|Q9NVE7|ENSG00000157881|uc001ajm.3|PANK4_HUMAN||B9DI84_%7C_Q53EU3_%7C_Q5TA84_%7C_Q7RTX3_%7C_Q9H3X5|Q9NVE7|coenzyme_%20_A_%20_biosynthetic_%20_process_%20_(GO:0015937)|cytoplasm_%20_(GO:0005737)|ATP_%20_binding_%20_(GO:0005524)_%7C_pantothenate_%20_kinase_%20_activity_%20_(GO:0004594)||||true|false||false|false|||false|false|false|PANK4:55229|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|764053138|2450734|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs764053138|] +1 2564465 kgp10938344 T C . PASS FUNCOTATION=[MMEL1|hg19|chr1|2564465|2564465|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:2564465T>C|ENST00000288709.6|-|1|||||0.6458852867830424|TGAAGGCTTCTGGGCCTCCTT|MMEL1_ENST00000378412.3_FIVE_PRIME_FLANK/MMEL1_ENST00000502556.1_FIVE_PRIME_FLANK/RP13-436F16.1_ENST00000427302.1_RNA/MMEL1_ENST00000511099.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_033467.3|NP_258428.2|HGNC:14668|membrane_%20_metalloendopeptidase_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MMEL2|"membrane_%20_metallo-endopeptidase-like_%20_2"|SEP_%2C__%20_NL1_%2C__%20_NL2_%2C__%20_NEPII||1p36.32|2016-10-05||2016-08-10|AF336981||79258|ENSG00000142606||NM_033467|1439|M13_%20_metallopeptidases|CCDS30569|OTTHUMG00000000846|79258||NM_033467|Q495T6|ENSG00000142606|uc001ajy.3|MMEL1_HUMAN||B9DI79_%7C_Q495T7_%7C_Q495T8_%7C_Q5SZS6_%7C_Q96PH9|Q495T6||endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|metalloendopeptidase_%20_activity_%20_(GO:0004222)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.4824_%2C_0.5176|false|false|1||false|true|true|MMEL1:79258|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|12752515|2564465|false|false|0|true|0|false|0.403943_%2C_0.596057|false|false|true|SNV|true|0x050100400a0517053e000100|1|false|121|rs12752515|] +1 3542385 indel.400 GA G . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3542386|3542386|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:3542386delA|ENST00000378344.2|+|3|473|c.403delA|c.(403-405)atafs|p.I135fs|0.5486284289276808|GGTGGTGCGGATAGCGCTCAA|TPRG1L_ENST00000344579.5_INTRON/RP11-46F15.2_ENST00000435049.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||BC019034|NM_182752.3|NP_877429.2|HGNC:27007|tumor_%20_protein_%20_p63_%20_regulated_%20_1_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FAM79A|"family_%20_with_%20_sequence_%20_similarity_%20_79_%2C__%20_member_%20_A"|RP11-46F15.3_%2C__%20_FLJ21811||1p36.32|2016-07-27|2008-01-16|2016-07-27|BC019034||127262|ENSG00000158109|12477932|NM_182752|||CCDS47|OTTHUMG00000000609|127262|611460|NM_182752|Q5T0D9|ENSG00000158109|uc001akm.4|TPRGL_HUMAN||A8K1K4_%7C_Q8WV04|Q5T0D9||cell_%20_junction_%20_(GO:0030054)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_synaptic_%20_vesicle_%20_(GO:0008021)|||||true|false||false|false|||false|false|false|TPRG1L:127262|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|749859577|3542386|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|144|rs749859577|] +1 3789041 indel.451 CT C . PASS FUNCOTATION=[DFFB|hg19|chr1|3789042|3789042|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:3789042delT|ENST00000378209.3|+|6|1010|c.688delT|c.(688-690)tttfs|p.F230fs|0.5885286783042394|CCAGGGTCCCTTTGACATGGA|DFFB_ENST00000338895.3_FRAME_SHIFT_DEL_p.F230fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC048797|NM_004402.2|NP_004393.1|HGNC:2773|DNA_%20_fragmentation_%20_factor_%20_subunit_%20_beta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DNA_%20_fragmentation_%20_factor_%2C__%20_40kDa_%2C__%20_beta_%20_polypeptide_%20_(caspase-activated_%20_DNase)"|CAD_%2C__%20_CPAN_%2C__%20_DFF-40_%2C__%20_DFF40|"caspase-activated_%20_DNase"|1p36.32|2016-10-05||2016-02-03|||1677|ENSG00000169598|9108473_%2C__%20_9560346|NM_001282669|||CCDS52_%2C__%20_CCDS72693|OTTHUMG00000003525|1677|601883|NM_001282669|O76075|ENSG00000169598|uc001alc.5|DFFB_HUMAN||O60521_%7C_Q5SR22_%7C_Q9BYI4_%7C_Q9BYI5_%7C_Q9BYI6|O76075|apoptotic_%20_chromosome_%20_condensation_%20_(GO:0030263)_%7C_apoptotic_%20_DNA_%20_fragmentation_%20_(GO:0006309)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_cellular_%20_component_%20_disassembly_%20_involved_%20_in_%20_execution_%20_phase_%20_of_%20_apoptosis_%20_(GO:0006921)|cytosol_%20_(GO:0005829)_%7C_nuclear_%20_chromatin_%20_(GO:0000790)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|deoxyribonuclease_%20_activity_%20_(GO:0004536)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_enzyme_%20_binding_%20_(GO:0019899)||||true|false||false|false|||false|false|false|DFFB:1677|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|755710345|3789042|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs755710345|] +1 3800158 indel.452 TG T . PASS FUNCOTATION=[DFFB|hg19|chr1|3800159|3800159|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:3800159delG|ENST00000378209.3|+|7|1193|c.871delG|c.(871-873)ggcfs|p.G291fs|0.46384039900249374|GTATTTTTATGGCCTGCTTTT|AL691523.1_ENST00000579705.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC048797|NM_004402.2|NP_004393.1|HGNC:2773|DNA_%20_fragmentation_%20_factor_%20_subunit_%20_beta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DNA_%20_fragmentation_%20_factor_%2C__%20_40kDa_%2C__%20_beta_%20_polypeptide_%20_(caspase-activated_%20_DNase)"|CAD_%2C__%20_CPAN_%2C__%20_DFF-40_%2C__%20_DFF40|"caspase-activated_%20_DNase"|1p36.32|2016-10-05||2016-02-03|||1677|ENSG00000169598|9108473_%2C__%20_9560346|NM_001282669|||CCDS52_%2C__%20_CCDS72693|OTTHUMG00000003525|1677|601883|NM_001282669|O76075|ENSG00000169598|uc001alc.5|DFFB_HUMAN||O60521_%7C_Q5SR22_%7C_Q9BYI4_%7C_Q9BYI5_%7C_Q9BYI6|O76075|apoptotic_%20_chromosome_%20_condensation_%20_(GO:0030263)_%7C_apoptotic_%20_DNA_%20_fragmentation_%20_(GO:0006309)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_cellular_%20_component_%20_disassembly_%20_involved_%20_in_%20_execution_%20_phase_%20_of_%20_apoptosis_%20_(GO:0006921)|cytosol_%20_(GO:0005829)_%7C_nuclear_%20_chromatin_%20_(GO:0000790)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|deoxyribonuclease_%20_activity_%20_(GO:0004536)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_enzyme_%20_binding_%20_(GO:0019899)||||true|false||false|false|||false|false|false|DFFB:1677|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|777060714|3800159|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs777060714|] +1 3821782 rs11589102 G A . PASS FUNCOTATION=[C1orf174|hg19|chr1|3821782|3821782|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:3821782G>A|ENST00000361605.3|-||||||0.4688279301745636|CTAAACTAATGTTTTCTTAAT|RP13-15E13.1_ENST00000442673.1_LINCRNA/C1orf174_ENST00000486765.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471130|NM_207356.2|NP_997239.2|HGNC:27915|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_174|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||RP13-531C17.2||1p36.32|2017-07-11|||BC035643||339448|ENSG00000198912|12477932|NM_207356|||CCDS53|OTTHUMG00000003739|339448||NM_207356|Q8IYL3|ENSG00000198912|uc001alf.4|CA174_HUMAN||A8K0C8_%7C_A8MUG9_%7C_Q5SR20_%7C_Q6NX36|Q8IYL3||nucleus_%20_(GO:0005634)|||||true|false|0.8093_%2C_0.1907|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11589102|3821782|false|false|0|true|0|false|0.748643_%2C_0.251357|false|false|false|SNV|true|0x05010008000517053f000101|1|false|120|rs11589102|] +1 3822703 rs10909830 C T . PASS FUNCOTATION=[RP13-15E13.1|hg19|chr1|3822703|3822703|LINCRNA||SNP|C|C|T|g.chr1:3822703C>T|ENST00000442673.1|+|||c.e1+5508C>T|||0.5012468827930174|TTTTCACCGACGCAGGCCCGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7055_%2C_0.2945|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10909830|3822703|false|false|0|true|0|false|0.663061_%2C_0.336939|false|false|false|SNV|true|0x05010008000517053f000100|1|false|120|rs10909830|] +1 3823395 kgp9113347 C T . PASS FUNCOTATION=[RP13-15E13.1|hg19|chr1|3823395|3823395|LINCRNA||SNP|C|C|T|g.chr1:3823395C>T|ENST00000442673.1|+|||c.e1+6200C>T|||0.5411471321695761|TGCAGATCCACGTCTGCCTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8087_%2C_0.1913|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28973022|3823395|false|false|0|true|0|false|0.748918_%2C_0.251082|false|false|false|SNV|true|0x05010008000517053f000100|1|false|125|rs28973022|] +1 3825525 rs35383955 C T . PASS FUNCOTATION=[RP13-15E13.1|hg19|chr1|3825525|3825525|LINCRNA||SNP|C|C|T|g.chr1:3825525C>T|ENST00000442673.1|+|||c.e2-5434C>T|||0.600997506234414|GTGCCCCAAGCGGAGCTCTTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7456_%2C_0.2544|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|35383955|3825525|false|false|0|true|0|false||false|false|false|SNV|true|0x05010008000517053e000100|1|false|126|rs35383955|] +1 4002498 psy_rs7538691 T C . PASS FUNCOTATION=[RP13-614K11.1|hg19|chr1|4002498|4002498|LINCRNA||SNP|T|T|C|g.chr1:4002498T>C|ENST00000412674.1|+|||c.e2+1295T>C|||0.456359102244389|ATCCACATGCTGAAGTCCTTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4375_%2C_0.5625|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7538691|4002498|false|false|0|true|0|false|0.405969_%2C_0.594031|false|false|false|SNV|true|0x05010008000517053f000100|1|false|116|rs7538691|] +1 6550505 exm2233725 C T . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6550505|6550505|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:6550505C>T|ENST00000340850.5|-|1|||||0.6633416458852868|CGCGACTCACCTAGGAACAGG|PLEKHG5_ENST00000377725.1_FIVE_PRIME_UTR/PLEKHG5_ENST00000377748.1_INTRON/PLEKHG5_ENST00000377732.1_INTRON/PLEKHG5_ENST00000400915.3_INTRON/PLEKHG5_ENST00000377728.3_INTRON/PLEKHG5_ENST00000377740.3_INTRON/PLEKHG5_ENST00000544978.1_INTRON/PLEKHG5_ENST00000537245.1_INTRON/PLEKHG5_ENST00000377737.2_INTRON/PLEKHG5_ENST00000400913.1_FIVE_PRIME_FLANK/PLEKHG5_ENST00000535355.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||304|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_stomach(121)|||||||CH471130|NM_001265594.1|NP_001252523.1|HGNC:29105|pleckstrin_%20_homology_%20_and_%20_RhoGEF_%20_domain_%20_containing_%20_G5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_G_%20_(with_%20_RhoGef_%20_domain)_%20_member_%20_5"|KIAA0720_%2C__%20_Syx_%2C__%20_GEF720_%2C__%20_Tech|"synectin-binding_%20_guanine_%20_exchange_%20_factor"|1p36.31|2017-03-24|2005-08-09|2015-11-18|AK024676||57449|ENSG00000171680|17564964|NM_020631|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS79_%2C__%20_CCDS41240_%2C__%20_CCDS41241_%2C__%20_CCDS57967_%2C__%20_CCDS57968_%2C__%20_CCDS57969|OTTHUMG00000000905|57449|611101|NM_001042663|O94827|ENSG00000171680|uc001anm.3|PKHG5_HUMAN||B3KU07_%7C_B7Z2M3_%7C_B7Z5X2_%7C_F5GZ21_%7C_F5H1I0_%7C_Q5SY17_%7C_Q5T8W5_%7C_Q5T8W9_%7C_Q6ZNM0_%7C_Q7Z436_%7C_Q86YD8_%7C_Q96BS1|O94827|apoptotic_%20_signaling_%20_pathway_%20_(GO:0097190)_%7C_endothelial_%20_cell_%20_chemotaxis_%20_(GO:0035767)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endocytic_%20_vesicle_%20_(GO:0030139)_%7C_lamellipodium_%20_(GO:0030027)_%7C_plasma_%20_membrane_%20_(GO:0005886)|Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false|0.8051_%2C_0.1949|false|false|1||false|true|true|PLEKHG5:57449|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11806429|6550505|false|false|0|true|0|false|0.824748_%2C_0.175252|false|false|true|SNV|true|0x05010048000517053f000100|1|false|120|rs11806429|] +1 6556585 exm9669 G A . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6556585|6556585|MISSENSE||SNP|G|G|A|g.chr1:6556585G>A|ENST00000377748.1|-|2|610|c.112C>T|c.(112-114)Ccc>Tcc|p.P38S|0.6408977556109726|ATGCAGGCGGGGTTCTGACAG|PLEKHG5_ENST00000400915.3_MISSENSE_p.P17S/PLEKHG5_ENST00000377740.3_MISSENSE_p.P38S/PLEKHG5_ENST00000377732.1_FIVE_PRIME_UTR/PLEKHG5_ENST00000544978.1_FIVE_PRIME_UTR/PLEKHG5_ENST00000537245.1_MISSENSE_p.P40S/PLEKHG5_ENST00000377737.2_FIVE_PRIME_UTR/PLEKHG5_ENST00000377728.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||304|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_stomach(121)|||||||CH471130|NM_198681.3|NP_941374.2|HGNC:29105|pleckstrin_%20_homology_%20_and_%20_RhoGEF_%20_domain_%20_containing_%20_G5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_G_%20_(with_%20_RhoGef_%20_domain)_%20_member_%20_5"|KIAA0720_%2C__%20_Syx_%2C__%20_GEF720_%2C__%20_Tech|"synectin-binding_%20_guanine_%20_exchange_%20_factor"|1p36.31|2017-03-24|2005-08-09|2015-11-18|AK024676||57449|ENSG00000171680|17564964|NM_020631|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS79_%2C__%20_CCDS41240_%2C__%20_CCDS41241_%2C__%20_CCDS57967_%2C__%20_CCDS57968_%2C__%20_CCDS57969|OTTHUMG00000000905|57449|611101|NM_001042663|O94827|ENSG00000171680|uc001anm.3|PKHG5_HUMAN||B3KU07_%7C_B7Z2M3_%7C_B7Z5X2_%7C_F5GZ21_%7C_F5H1I0_%7C_Q5SY17_%7C_Q5T8W5_%7C_Q5T8W9_%7C_Q6ZNM0_%7C_Q7Z436_%7C_Q86YD8_%7C_Q96BS1|O94827|apoptotic_%20_signaling_%20_pathway_%20_(GO:0097190)_%7C_endothelial_%20_cell_%20_chemotaxis_%20_(GO:0035767)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051056)_%7C_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0007264)|cell-cell_%20_junction_%20_(GO:0005911)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_endocytic_%20_vesicle_%20_(GO:0030139)_%7C_lamellipodium_%20_(GO:0030027)_%7C_plasma_%20_membrane_%20_(GO:0005886)|Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|PLEKHG5:57449|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201669114|6556585|false|false|0|false|0|false|0.997974_%2C_0.00202624|false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs201669114|] +1 6635345 indel.549 TC T . PASS FUNCOTATION=[TAS1R1|hg19|chr1|6635346|6635346|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:6635346delC|ENST00000333172.6|+|3|1346|c.1154delC|c.(1153-1155)tctfs|p.S385fs|0.600997506234414|TCCATGAGTTCTGCCTACAAC|TAS1R1_ENST00000351136.3_INTRON/TAS1R1_ENST00000328191.4_FRAME_SHIFT_DEL_p.S385fs/ZBTB48_ENST00000377674.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BK000153|NM_138697.3|NP_619642.2|HGNC:14448|taste_%20_1_%20_receptor_%20_member_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GPR70|"G_%20_protein-coupled_%20_receptor_%20_70"_%2C__%20_"taste_%20_receptor_%2C__%20_type_%20_1_%2C__%20_member_%20_1"|T1R1_%2C__%20_TR1||1p36.31|2015-12-16||2015-12-16|||80835|ENSG00000173662|12856281_%2C__%20_11894099|NM_138697|1161|Taste_%20_1_%20_receptors|CCDS81_%2C__%20_CCDS82|OTTHUMG00000001441|80835|606225|NM_138697|Q7RTX1|ENSG00000173662|uc001ant.4|TS1R1_HUMAN||B2RMX0_%7C_Q5SY22_%7C_Q5SY24_%7C_Q8NGZ7_%7C_Q8TDJ7_%7C_Q8TDJ8_%7C_Q8TDJ9_%7C_Q8TDK0|Q7RTX1|detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_taste_%20_(GO:0050912)_%7C_sensory_%20_perception_%20_of_%20_umami_%20_taste_%20_(GO:0050917)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|protein_%20_heterodimerization_%20_activity_%20_(GO:0046982)_%7C_taste_%20_receptor_%20_activity_%20_(GO:0008527)||||true|false||false|false|||false|false|false|TAS1R1:80835|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|867182312|6635346|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|147|rs867182312|] +1 7897138 indel.606 CA C . PASS FUNCOTATION=[PER3|hg19|chr1|7897139|7897139|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:7897139delA|ENST00000377532.3|+|20|3702|c.3479delA|c.(3478-3480)caafs|p.K1161fs|0.3940149625935162|TCTCATGGGCAAAAGGAGGAG|PER3_ENST00000361923.2_FRAME_SHIFT_DEL_p.K1152fs|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:8847|period_%20_circadian_%20_regulator_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"period_%20_(Drosophila)_%20_homolog_%20_3"_%2C__%20_"period_%20_homolog_%20_3_%20_(Drosophila)"_%2C__%20_"period_%20_circadian_%20_clock_%20_3"|||1p36.23|2017-10-02||2017-10-02|BC026102||8863|ENSG00000049246|9427249|NM_016831|||CCDS89_%2C__%20_CCDS72695_%2C__%20_CCDS76097|OTTHUMG00000001216|8863|603427|NM_001289861|P56645|ENSG00000049246|uc057bxs.1|PER3_HUMAN||Q5H8X4_%7C_Q5H8X5_%7C_Q969K6_%7C_Q96S77_%7C_Q96S78_%7C_Q9C0J3_%7C_Q9NSP9_%7C_Q9UGU8|P56645|circadian_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0032922)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_sleep_%20_(GO:0045187)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|signal_%20_transducer_%20_activity_%20_(GO:0004871)||||true|false||false|false|||false|false|false|PER3:8863|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|773961726|7897139|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs773961726|] +1 7913430 rs228648 G A . PASS FUNCOTATION=[UTS2|hg19|chr1|7913430|7913430|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr1:7913430G>A|ENST00000377516.2|-|1|||||0.3566084788029925|GCAAAGAGACGTGGATTTATG|UTS2_ENST00000054668.5_MISSENSE_p.T21M/UTS2_ENST00000361696.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:12636|urotensin_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||UII_%2C__%20_U-II_%2C__%20_UCN2_%2C__%20_PRO1068|"prepro_%20_U-II"|1p36.23|2016-10-05|||AF104118||10911|ENSG00000049247|9861051_%2C__%20_10499587|NM_006786|542|Endogenous_%20_ligands|CCDS90_%2C__%20_CCDS91|OTTHUMG00000001218|10911|604097|NM_006786|O95399|ENSG00000049247|uc001aos.4|UTS2_HUMAN||Q5H8X7_%7C_Q6UXF6_%7C_Q9UKP7|O95399|muscle_%20_contraction_%20_(GO:0006936)_%7C_negative_%20_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0045776)_%7C_negative_%20_regulation_%20_of_%20_glomerular_%20_filtration_%20_(GO:0003105)_%7C_negative_%20_regulation_%20_of_%20_heart_%20_rate_%20_(GO:0010459)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_secretion_%20_(GO:0046676)_%7C_negative_%20_regulation_%20_of_%20_renal_%20_sodium_%20_excretion_%20_(GO:0035814)_%7C_negative_%20_regulation_%20_of_%20_urine_%20_volume_%20_(GO:0035811)_%7C_positive_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0045766)_%7C_positive_%20_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0045777)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045597)_%7C_positive_%20_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_REM_%20_sleep_%20_(GO:0046005)_%7C_positive_%20_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_wakefulness_%20_(GO:0010841)_%7C_positive_%20_regulation_%20_of_%20_collagen_%20_biosynthetic_%20_process_%20_(GO:0032967)_%7C_positive_%20_regulation_%20_of_%20_cytosolic_%20_calcium_%20_ion_%20_concentration_%20_(GO:0007204)_%7C_positive_%20_regulation_%20_of_%20_fibroblast_%20_migration_%20_(GO:0010763)_%7C_positive_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048146)_%7C_positive_%20_regulation_%20_of_%20_heart_%20_rate_%20_(GO:0010460)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_transmission_%2C__%20_cholinergic_%20_(GO:0032224)_%7C_positive_%20_regulation_%20_of_%20_vasodilation_%20_(GO:0045909)_%7C_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_response_%20_to_%20_testosterone_%20_(GO:0033574)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|hormone_%20_activity_%20_(GO:0005179)_%7C_receptor_%20_binding_%20_(GO:0005102)||||true|false|0.5216_%2C_0.4784|false|false|1||false|true|true|UTS2:10911|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|true|true|228648|7913430|false|false|0|true|0|false|0.476578_%2C_0.523422|false|false|false|SNV|true|0x050128020a0517053f000101|1|false|79|rs228648|] +1 8045014 indel.625 GGCC G . PASS FUNCOTATION=[PARK7|hg19|chr1|8045015|8045017|IN_FRAME_DEL||DEL|GCC|GCC|-|g.chr1:8045015_8045017delGCC|ENST00000493678.1|+|7|537_539|c.471_473delGCC|c.(469-474)gggcct>ggt|p.P158del|0.4466501240694789|CAAGCCGGGGGCCTGGGACCAGC|PARK7_ENST00000377491.1_IN_FRAME_DEL_p.P158del/PARK7_ENST00000338639.5_IN_FRAME_DEL_p.P158del/PARK7_ENST00000377488.1_IN_FRAME_DEL_p.P158del/PARK7_ENST00000377493.5_IN_FRAME_DEL_p.P138del/Y_RNA_ENST00000363474.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||D61380|||HGNC:16369|Parkinsonism_%20_associated_%20_deglycase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Parkinson_%20_disease_%20_(autosomal_%20_recessive_%2C__%20_early_%20_onset)_%20_7"_%2C__%20_"parkinson_%20_protein_%20_7"|DJ-1_%2C__%20_DJ1_%2C__%20_GATD2||1p36.23|2017-07-25||2016-02-15|D61380||11315|ENSG00000116288|11462174_%2C__%20_9070310_%2C__%20_25416785_%2C__%20_28596309|NM_007262|672_%7C_1408|Parkinson_%20_disease_%20_associated_%20_genes_%7C_Glutamine_%20_amidotransferase_%20_like_%20_class_%20_1_%20_domain_%20_containing|CCDS93|OTTHUMG00000001210|11315|602533|NM_001123377|Q99497|ENSG00000116288|uc057byc.1|PARK7_HUMAN||B2R4Z1_%7C_O14805_%7C_Q6DR95_%7C_Q7LFU2|Q99497|adult_%20_locomotory_%20_behavior_%20_(GO:0008344)_%7C_autophagy_%20_(GO:0006914)_%7C_cellular_%20_response_%20_to_%20_glyoxal_%20_(GO:0036471)_%7C_cellular_%20_response_%20_to_%20_hydrogen_%20_peroxide_%20_(GO:0070301)_%7C_cellular_%20_response_%20_to_%20_oxidative_%20_stress_%20_(GO:0034599)_%7C_dopamine_%20_uptake_%20_involved_%20_in_%20_synaptic_%20_transmission_%20_(GO:0051583)_%7C_glycolate_%20_biosynthetic_%20_process_%20_(GO:0046295)_%7C_glyoxal_%20_catabolic_%20_process_%20_(GO:1903190)_%7C_hydrogen_%20_peroxide_%20_metabolic_%20_process_%20_(GO:0042743)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_lactate_%20_biosynthetic_%20_process_%20_(GO:0019249)_%7C_membrane_%20_depolarization_%20_(GO:0051899)_%7C_membrane_%20_hyperpolarization_%20_(GO:0060081)_%7C_methylglyoxal_%20_catabolic_%20_process_%20_to_%20_D-lactate_%20_(GO:0019243)_%7C_mitochondrion_%20_organization_%20_(GO:0007005)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_death_%20_(GO:0060548)_%7C_negative_%20_regulation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001268)_%7C_negative_%20_regulation_%20_of_%20_death-inducing_%20_signaling_%20_complex_%20_assembly_%20_(GO:1903073)_%7C_negative_%20_regulation_%20_of_%20_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001237)_%7C_negative_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0010629)_%7C_negative_%20_regulation_%20_of_%20_hydrogen_%20_peroxide-induced_%20_cell_%20_death_%20_(GO:1903206)_%7C_negative_%20_regulation_%20_of_%20_hydrogen_%20_peroxide-induced_%20_neuron_%20_death_%20_(GO:1903208)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_death_%20_(GO:1901215)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_cell_%20_death_%20_(GO:1903202)_%7C_negative_%20_regulation_%20_of_%20_oxidative_%20_stress-induced_%20_neuron_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1903377)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_acetylation_%20_(GO:1901984)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_export_%20_from_%20_nucleus_%20_(GO:0046826)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_K48-linked_%20_deubiquitination_%20_(GO:1903094)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_phosphorylation_%20_(GO:0001933)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_sumoylation_%20_(GO:0033234)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_TRAIL-activated_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:1903122)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0051444)_%7C_negative_%20_regulation_%20_of_%20_ubiquitin-specific_%20_protease_%20_activity_%20_(GO:2000157)_%7C_positive_%20_regulation_%20_of_%20_androgen_%20_receptor_%20_activity_%20_(GO:2000825)_%7C_positive_%20_regulation_%20_of_%20_dopamine_%20_biosynthetic_%20_process_%20_(GO:1903181)_%7C_positive_%20_regulation_%20_of_%20_interleukin-8_%20_production_%20_(GO:0032757)_%7C_positive_%20_regulation_%20_of_%20_L-dopa_%20_biosynthetic_%20_process_%20_(GO:1903197)_%7C_positive_%20_regulation_%20_of_%20_L-dopa_%20_decarboxylase_%20_activity_%20_(GO:1903200)_%7C_positive_%20_regulation_%20_of_%20_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:1902958)_%7C_positive_%20_regulation_%20_of_%20_oxidative_%20_phosphorylation_%20_uncoupler_%20_activity_%20_(GO:2000277)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_homodimerization_%20_activity_%20_(GO:0090073)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:1900182)_%7C_positive_%20_regulation_%20_of_%20_pyrroline-5-carboxylate_%20_reductase_%20_activity_%20_(GO:1903168)_%7C_positive_%20_regulation_%20_of_%20_superoxide_%20_dismutase_%20_activity_%20_(GO:1901671)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_tyrosine_%20_3-monooxygenase_%20_activity_%20_(GO:1903178)_%7C_protein_%20_stabilization_%20_(GO:0050821)_%7C_regulation_%20_of_%20_androgen_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0060765)_%7C_regulation_%20_of_%20_fibril_%20_organization_%20_(GO:1902903)_%7C_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050727)_%7C_regulation_%20_of_%20_mitochondrial_%20_membrane_%20_potential_%20_(GO:0051881)_%7C_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043523)_%7C_single_%20_fertilization_%20_(GO:0007338)|chromatin_%20_(GO:0000785)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_PML_%20_body_%20_(GO:0016605)|androgen_%20_receptor_%20_binding_%20_(GO:0050681)_%7C_cupric_%20_ion_%20_binding_%20_(GO:1903135)_%7C_cuprous_%20_ion_%20_binding_%20_(GO:1903136)_%7C_cytokine_%20_binding_%20_(GO:0019955)_%7C_enzyme_%20_binding_%20_(GO:0019899)_%7C_glyoxalase_%20_(glycolic_%20_acid-forming)_%20_activity_%20_(GO:1990422)_%7C_glyoxalase_%20_III_%20_activity_%20_(GO:0019172)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_L-dopa_%20_decarboxylase_%20_activator_%20_activity_%20_(GO:0036478)_%7C_mRNA_%20_binding_%20_(GO:0003729)_%7C_oxidoreductase_%20_activity_%2C__%20_acting_%20_on_%20_peroxide_%20_as_%20_acceptor_%20_(GO:0016684)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_peroxidase_%20_activity_%20_(GO:0004601)_%7C_peroxiredoxin_%20_activity_%20_(GO:0051920)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_receptor_%20_binding_%20_(GO:0005102)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_RNA_%20_binding_%20_(GO:0003723)_%7C_scaffold_%20_protein_%20_binding_%20_(GO:0097110)_%7C_small_%20_protein_%20_activating_%20_enzyme_%20_binding_%20_(GO:0044388)_%7C_small_%20_protein_%20_conjugating_%20_enzyme_%20_binding_%20_(GO:0044390)_%7C_superoxide_%20_dismutase_%20_copper_%20_chaperone_%20_activity_%20_(GO:0016532)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)_%7C_tyrosine_%20_3-monooxygenase_%20_activator_%20_activity_%20_(GO:0036470)_%7C_ubiquitin-specific_%20_protease_%20_binding_%20_(GO:1990381)||||true|false||false|false|||false|false|false|PARK7:11315|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|764877312|8045015|false|false|0|false|0|false||false|false|false|DIV|true|0x050000000005040402000200|1|false|144|rs764877312|] +1 9994822 indel.687 CT C . PASS FUNCOTATION=[LZIC|hg19|chr1|9994823|9994823|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:9994823delT|ENST00000377223.1|-|5|582|c.333delA|c.(331-333)gcafs|p.E112fs|0.3516209476309227|ATTTTACCTCTGCTAACCTTG|LZIC_ENST00000377213.1_FRAME_SHIFT_DEL_p.E112fs/LZIC_ENST00000400903.2_FRAME_SHIFT_DEL_p.E112fs/LZIC_ENST00000541052.1_FRAME_SHIFT_DEL_p.E133fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471130|||HGNC:17497|leucine_%20_zipper_%20_and_%20_CTNNBIP1_%20_domain_%20_containing|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC15436||1p36.22|2014-11-18|||AB060688||84328|ENSG00000162441|11712074|NM_032368|||CCDS107|OTTHUMG00000001804|84328|610458|NM_001316973|Q8WZA0|ENSG00000162441|uc001aqo.4|LZIC_HUMAN||B2R6F0_%7C_B4E2N0_%7C_Q96IU1|Q8WZA0|response_%20_to_%20_ionizing_%20_radiation_%20_(GO:0010212)||||||true|false||false|false|||false|false|false|LZIC:84328|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|866608629|9994823|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|147|rs866608629|] +1 10478954 indel.710 TC T . PASS FUNCOTATION=[PGD|hg19|chr1|10478955|10478955|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:10478955delC|ENST00000270776.8|+|11|1219|c.1182delC|c.(1180-1182)ttcfs|p.F395fs|0.46384039900249374|TGGACGACTTCTTTAAGTCAG|PGD_ENST00000538557.1_FRAME_SHIFT_DEL_p.F382fs/PGD_ENST00000541529.1_FRAME_SHIFT_DEL_p.F373fs/PGD_ENST00000498356.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U30255|NM_002631.2|NP_002622.2|HGNC:8891|phosphogluconate_%20_dehydrogenase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.22|2014-11-18|||BC000368|1.1.1.43|5226|ENSG00000142657||NM_002631|||CCDS113|OTTHUMG00000001905|5226|172200|NM_001304451|P52209|ENSG00000142657|uc001arc.4|6PGD_HUMAN|Dacarbazine(DB00851)_%7C_Furosemide(DB00695)_%7C_Gadopentetate_%20_dimeglumine(DB00789)_%7C_Ketotifen(DB00920)_%7C_Meloxicam(DB00814)_%7C_Methotrexate(DB00563)_%7C_Ritodrine(DB00867)|A8K2Y9_%7C_B4DQJ8_%7C_Q9BWD8|P52209|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_D-gluconate_%20_metabolic_%20_process_%20_(GO:0019521)_%7C_oxidation-reduction_%20_process_%20_(GO:0055114)_%7C_pentose_%20_biosynthetic_%20_process_%20_(GO:0019322)_%7C_pentose-phosphate_%20_shunt_%20_(GO:0006098)_%7C_pentose-phosphate_%20_shunt_%2C__%20_oxidative_%20_branch_%20_(GO:0009051)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleus_%20_(GO:0005634)|NADP_%20_binding_%20_(GO:0050661)_%7C_phosphogluconate_%20_dehydrogenase_%20_(decarboxylating)_%20_activity_%20_(GO:0004616)||||true|false||false|false|||false|false|false|PGD:5226|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|767877628|10478955|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs767877628|] +1 11906068 exm15531 A G . PASS FUNCOTATION=[NPPA|hg19|chr1|11906068|11906068|NONSTOP||SNP|A|A|G|g.chr1:11906068A>G|ENST00000376480.3|-|3|553|c.454T>C|c.(454-456)Tga>Cga|p.*152R|0.4937655860349127|TGTTATCTTCAGTACTGCAAA|NPPA_ENST00000376476.1_NONSTOP_p.*102R/NPPA-AS1_ENST00000446542.1_RNA/NPPA-AS1_ENST00000400892.2_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X02558|NM_006172.3|NP_006163.1|HGNC:7939|natriuretic_%20_peptide_%20_A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ANP_%2C__%20_PND|"natriuretic_%20_peptide_%20_precursor_%20_A"|||1p36.22|2017-03-24||2010-11-09|BC005893||4878|ENSG00000175206||NM_006172|542|Endogenous_%20_ligands|CCDS139|OTTHUMG00000002388|4878|108780|NM_006172|P01160|ENSG00000175206|uc001ati.4|ANF_HUMAN||Q13766_%7C_Q5JZE1|P01160|cardiac_%20_muscle_%20_hypertrophy_%20_in_%20_response_%20_to_%20_stress_%20_(GO:0014898)_%7C_cellular_%20_response_%20_to_%20_mechanical_%20_stimulus_%20_(GO:0071260)_%7C_cGMP_%20_biosynthetic_%20_process_%20_(GO:0006182)_%7C_female_%20_pregnancy_%20_(GO:0007565)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_systemic_%20_arterial_%20_blood_%20_pressure_%20_(GO:0003085)_%7C_receptor_%20_guanylyl_%20_cyclase_%20_signaling_%20_pathway_%20_(GO:0007168)_%7C_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_regulation_%20_of_%20_blood_%20_vessel_%20_size_%20_(GO:0050880)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_response_%20_to_%20_insulin_%20_(GO:0032868)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_mast_%20_cell_%20_granule_%20_(GO:0042629)_%7C_nucleus_%20_(GO:0005634)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)|receptor_%20_binding_%20_(GO:0005102)||||true|false|0.8209_%2C_0.1791|false|false|1||false|true|false|NPPA:4878_%7C_NPPA-AS1:100379251|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|5065|11906068|false|false|0|true|0|false|0.737688_%2C_0.262312|true|false|false|SNV|true|0x05013808020515053f000100|1|false|52|rs5065|] +1 12069756 indel.888 CACTT C . PASS FUNCOTATION=[MFN2|hg19|chr1|12069757|12069760|FRAME_SHIFT_DEL||DEL|ACTT|ACTT|-|g.chr1:12069757_12069760delACTT|ENST00000235329.5|+|18|2499_2502|c.2178_2181delACTT|c.(2176-2181)tcacttfs|p.L727fs|0.5693069306930693|TTCTTGACTCACTTCAGAGCAAAG|MFN2_ENST00000444836.1_FRAME_SHIFT_DEL_p.L727fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||D86987|NM_014874.3|NP_055689.1|HGNC:16877|mitofusin_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CPRP1_%2C__%20_KIAA0214_%2C__%20_MARF_%2C__%20_CMT2A2||1p36.22|2017-03-24|||AF036536||9927|ENSG00000116688|12499352_%2C__%20_11181170|NM_014874|||CCDS30587|OTTHUMG00000002392|9927|608507|NM_001127660|O95140|ENSG00000116688|uc009vni.4|MFN2_HUMAN||A8K1B3_%7C_O95572_%7C_Q5JXC3_%7C_Q5JXC4_%7C_Q9H131_%7C_Q9NSX8|O95140|apoptotic_%20_process_%20_(GO:0006915)_%7C_autophagy_%20_(GO:0006914)_%7C_blastocyst_%20_formation_%20_(GO:0001825)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_camera-type_%20_eye_%20_morphogenesis_%20_(GO:0048593)_%7C_mitochondrial_%20_fusion_%20_(GO:0008053)_%7C_mitochondrial_%20_membrane_%20_organization_%20_(GO:0007006)_%7C_mitochondrion_%20_localization_%20_(GO:0051646)_%7C_negative_%20_regulation_%20_of_%20_Ras_%20_protein_%20_signal_%20_transduction_%20_(GO:0046580)_%7C_negative_%20_regulation_%20_of_%20_smooth_%20_muscle_%20_cell_%20_proliferation_%20_(GO:0048662)_%7C_protein_%20_localization_%20_to_%20_pre-autophagosomal_%20_structure_%20_(GO:0034497)_%7C_protein_%20_targeting_%20_to_%20_mitochondrion_%20_(GO:0006626)_%7C_response_%20_to_%20_unfolded_%20_protein_%20_(GO:0006986)|cytosol_%20_(GO:0005829)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_intrinsic_%20_component_%20_of_%20_mitochondrial_%20_outer_%20_membrane_%20_(GO:0031306)_%7C_microtubule_%20_cytoskeleton_%20_(GO:0015630)_%7C_mitochondrial_%20_outer_%20_membrane_%20_(GO:0005741)_%7C_mitochondrion_%20_(GO:0005739)|GTP_%20_binding_%20_(GO:0005525)_%7C_GTPase_%20_activity_%20_(GO:0003924)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)||||true|false||false|false|||false|false|false|MFN2:9927|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|772270096|12069757|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs772270096|] +1 12776344 exm16961 A T . PASS FUNCOTATION=[AADACL3|hg19|chr1|12776344|12776344|FIVE_PRIME_UTR||SNP|A|A|T|g.chr1:12776344A>T|ENST00000359318.5|+|1|||||0.5311720698254364|TGCTGTTGACATGGGTGAGTT|AADACL3_ENST00000332530.3_START_CODON_SNP_p.M1L|||||||||||||||||||||||||22|central_nervous_system(22)|||||||AL513016|NM_001103170.1|NP_001096640.1|HGNC:32037|arylacetamide_%20_deacetylase_%20_like_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||OTTHUMG00000001887||1p36.21|2016-05-26||2016-05-26|||126767|ENSG00000188984||NM_001103170|465|Arylacetamide_%20_deacetylase_%20_family|CCDS41253|OTTHUMG00000001887|126767||NM_001103170|Q5VUY0|ENSG00000188984|uc057ckc.1|ADCL3_HUMAN||B3KXR9_%7C_Q5VUY1|Q5VUY0|||hydrolase_%20_activity_%20_(GO:0016787)||||true|false|0.3435_%2C_0.6565|false|false|1||false|true|true|AADACL3:126767|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|3000859|12776344|true|true|0|true|0|true||false|false|false|SNV|true|0x050300000b0517053f000100|1|false|101|rs3000859|] +1 13933727 exm18587 A G . PASS FUNCOTATION=[PDPN|hg19|chr1|13933727|13933727|MISSENSE||SNP|A|A|G|g.chr1:13933727A>G|ENST00000509009.1|+|2|156|c.112A>G|c.(112-114)Atg>Gtg|p.M38V|0.42144638403990026|CGGCGTTGCCATGCCAGGTGC|PDPN_ENST00000294489.6_MISSENSE_p.M119V/PDPN_ENST00000376057.4_MISSENSE_p.M119V/PDPN_ENST00000376061.4_START_CODON_SNP_p.M1V/PDPN_ENST00000513143.1_START_CODON_SNP_p.M1V/PDPN_ENST00000475043.1_START_CODON_SNP_p.M1V/PDPN_ENST00000487038.1_START_CODON_SNP_p.M1V|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(2)|||||||AL359771|||HGNC:29602|podoplanin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||T1A-2_%2C__%20_Gp38_%2C__%20_aggrus_%2C__%20_GP40_%2C__%20_PA2.26|"lung_%20_type_%20_I_%20_cell_%20_membrane_%20_associated_%20_glycoprotein"|1p36.21|2014-11-19|||AB127958_%2C__%20_AY194238||10630|ENSG00000162493|10393083_%2C__%20_9651190|NM_006474|||CCDS30602_%2C__%20_CCDS41266_%2C__%20_CCDS44060_%2C__%20_CCDS53270|OTTHUMG00000007912|10630|608863|NM_001006624|Q86YL7|ENSG00000162493|uc001avd.4|||||||||||true|false|0.9954_%2C_0.004593|false|false|1||false|false|false|PDPN:10630|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|141726617|13933727|false|false|0|false|0|false|0.990487_%2C_0.00951302|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs141726617|] +1 15671649 exm19151 T C . PASS FUNCOTATION=[FHAD1|hg19|chr1|15671649|15671649|MISSENSE||SNP|T|T|C|g.chr1:15671649T>C|ENST00000375998.4|+|15|2135|c.2135T>C|c.(2134-2136)aTg>aCg|p.M712T|0.571072319201995|CGGAAGAGAATGCAAGAACTG|FHAD1_ENST00000358897.4_MISSENSE_p.M712T/FHAD1_ENST00000417793.1_MISSENSE_p.M712T/FHAD1_ENST00000375999.3_MISSENSE_p.M712T/FHAD1_ENST00000314740.8_START_CODON_SNP_p.M1T/FHAD1_ENST00000471347.1_INTRON/RP3-467K16.2_ENST00000428747.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||69|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||AL391094|||HGNC:29408|forkhead_%20_associated_%20_phosphopeptide_%20_binding_%20_domain_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"forkhead-associated_%20_(FHA)_%20_phosphopeptide_%20_binding_%20_domain_%20_1"|KIAA1937||1p36.21|2016-06-21||2016-06-21|AK093300||114827|ENSG00000142621|11572484|NM_052929||||OTTHUMG00000002088|114827||NM_052929|B1AJZ9|ENSG00000142621|uc001awb.2|FHAD1_HUMAN||Q0P6F5_%7C_Q8N8D3_%7C_Q8N9T6_%7C_Q8NA05|B1AJZ9|||||||true|false||false|false|||false|false|false|FHAD1:114827_%7C_LOC101927417:101927417|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|200826682|15671649|false|false|0|false|0|false|0.999554_%2C_0.000446459|false|false|false|SNV|true|0x050000020a05040402000100|1|false|137|rs200826682|] +1 17634718 exm23564 A G . PASS FUNCOTATION=[PADI4|hg19|chr1|17634718|17634718|START_CODON_SNP||SNP|A|A|G|g.chr1:17634718A>G|ENST00000375448.4|+|1|27|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6134663341645885|TAGCCCGACGATGGCCCAGGG|PADI4_ENST00000375453.1_START_CODON_SNP_p.M1V|||||||||||||||||||||||||70|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_urinary_tract(1)|||||||BC025718|NM_012387.2|NP_036519.2|HGNC:18368|peptidyl_%20_arginine_%20_deiminase_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PADI5|"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_V"_%2C__%20_"peptidyl_%20_arginine_%20_deiminase_%2C__%20_type_%20_IV"|PAD_%2C__%20_PDI5_%2C__%20_PDI4||1p36.13|2016-04-06||2016-04-06|AB017919|3.5.3.15|23569|ENSG00000159339|10488123|NM_012387|677|Peptidyl_%20_arginine_%20_deiminases|CCDS180|OTTHUMG00000002371|23569|605347|NM_012387|Q9UM07|ENSG00000159339|uc001baj.3|PADI4_HUMAN|L-Citrulline(DB00155)|A8K392_%7C_B2RBW0_%7C_Q5VTZ8_%7C_Q70SX4|Q9UM07|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)_%7C_chromatin_%20_modification_%20_(GO:0016568)_%7C_chromatin_%20_remodeling_%20_(GO:0006338)_%7C_histone_%20_citrullination_%20_(GO:0036414)_%7C_histone_%20_H3-R26_%20_citrullination_%20_(GO:0036413)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_nucleosome_%20_assembly_%20_(GO:0006334)_%7C_protein_%20_citrullination_%20_(GO:0018101)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_stem_%20_cell_%20_maintenance_%20_(GO:0019827)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|arginine_%20_deiminase_%20_activity_%20_(GO:0016990)_%7C_calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_protein-arginine_%20_deiminase_%20_activity_%20_(GO:0004668)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|PADI4:23569|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|141280036|17634718|false|true|0|false|0|false|0.999176_%2C_0.000824232|false|false|false|SNV|true|0x050200000a05040426000100|1|false|134|rs141280036|] +1 17942591 exm23940 G A . PASS FUNCOTATION=[ARHGEF10L|hg19|chr1|17942591|17942591|MISSENSE||SNP|G|G|A|g.chr1:17942591G>A|ENST00000375415.1|+|7|655|c.612G>A|c.(610-612)atG>atA|p.M204I|0.6359102244389028|TTGCTCAGATGACCCAGCTCA|ARHGEF10L_ENST00000361221.3_MISSENSE_p.M243I/ARHGEF10L_ENST00000452522.1_MISSENSE_p.M204I/ARHGEF10L_ENST00000434513.1_MISSENSE_p.M243I/ARHGEF10L_ENST00000375420.3_START_CODON_SNP_p.M1I/ARHGEF10L_ENST00000167825.4_FIVE_PRIME_FLANK/ARHGEF10L_ENST00000375408.3_FIVE_PRIME_FLANK/ARHGEF10L_ENST00000469726.1_INTRON|||||||||||||||||||||||||246|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||DQ139833|NM_001011722.2|NP_001011722.2|HGNC:25540|Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factor_%20_10_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factor_%20_(GEF)_%20_10-like"|FLJ10521_%2C__%20_KIAA1626|"GrinchGEF"|1p36.13|2015-11-09||2015-11-09|AB046846||55160|ENSG00000074964|10997877_%2C__%20_16112081|NM_018125|722|Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factors|CCDS182_%2C__%20_CCDS30617|OTTHUMG00000002514|55160|612494|NM_001011722|Q9HCE6|ENSG00000074964|uc001ban.4|ARGAL_HUMAN||B7ZKS1_%7C_Q17RW1_%7C_Q3YFJ4_%7C_Q5VXI5_%7C_Q5VXI6_%7C_Q66K51_%7C_Q6P0L7_%7C_Q8NAV5_%7C_Q9NVT3|Q9HCE6||cytoplasm_%20_(GO:0005737)|Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|ARHGEF10L:55160|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201155898|17942591|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs201155898|] +1 21800057 indel.1508 G GC . PASS FUNCOTATION=[NBPF3|hg19|chr1|21800057|21800058|FRAME_SHIFT_INS||INS|-|-|C|g.chr1:21800057_21800058insC|ENST00000318220.6|+|10|1799|c.751_752insC|c.(751-753)gatfs|p.D251fs|0.4525|GAATGGTTGGATGCTGTATG|NBPF3_ENST00000342104.5_FRAME_SHIFT_INS_p.D307fs/NBPF3_ENST00000318249.5_FRAME_SHIFT_INS_p.D307fs/NBPF3_ENST00000454000.2_FRAME_SHIFT_INS_p.D237fs|||||||||||||||||||||||||211|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(120)|||||||BC024011|||HGNC:25076|NBPF_%20_member_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"neuroblastoma_%20_breakpoint_%20_family_%2C__%20_member_%20_3"|AE2||1p36.12|2017-03-01||2017-03-01|BC024011||84224|ENSG00000142794|11230166_%2C__%20_16079250|NM_032264|662|NBPF_%20_members|CCDS216_%2C__%20_CCDS57976_%2C__%20_CCDS57977_%2C__%20_CCDS81275|OTTHUMG00000002944|84224|612992|NM_001256416|Q9H094|ENSG00000142794|uc001ber.5|NBPF3_HUMAN||A8K965_%7C_B4DSP2_%7C_I3L0I8_%7C_Q3BBW1_%7C_Q5VTG2_%7C_Q5VTG3_%7C_Q5VTG4_%7C_Q8IX78_%7C_Q8ND86_%7C_Q8TC96|Q9H094||cytoplasm_%20_(GO:0005737)|||||true|false||false|false|||false|false|false|NBPF3:84224|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|747645859|21800057|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs747645859|] +1 21896823 exm28148 C T . PASS FUNCOTATION=[ALPL|hg19|chr1|21896823|21896823|MISSENSE||SNP|C|C|T|g.chr1:21896823C>T|ENST00000374840.3|+|8|1068|c.818C>T|c.(817-819)aCg>aTg|p.T273M|0.5810473815461347|TGGAACCGCACGGAACTCCTG|ALPL_ENST00000374832.1_MISSENSE_p.T273M/ALPL_ENST00000374830.1_DE_NOVO_START_IN_FRAME/ALPL_ENST00000425315.2_MISSENSE_p.T273M/ALPL_ENST00000540617.1_MISSENSE_p.T218M/ALPL_ENST00000539907.1_MISSENSE_p.T196M/ALPL_ENST00000374829.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(45)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X14174|NM_000478.4|NP_000469.3|HGNC:438|alkaline_%20_phosphatase_%2C__%20_liver/bone/kidney|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HOPS||TNSALP||1p36.12|2014-11-18|||BC021289|3.1.3.1|249|ENSG00000162551|3532105_%2C__%20_3446011|NM_000478|1072|Alkaline_%20_phosphatases|CCDS217_%2C__%20_CCDS53274_%2C__%20_CCDS53275|OTTHUMG00000002949|249|171760|NM_000478|P05186|ENSG00000162551|uc001bet.4|PPBT_HUMAN|Amifostine(DB01143)_%7C_Fospropofol(DB06716)|A1A4E7_%7C_B2RMP8_%7C_B7Z387_%7C_B7Z4Y6_%7C_O75090_%7C_Q2TAI7_%7C_Q59EJ7_%7C_Q5BKZ5_%7C_Q5VTG5_%7C_Q6NZI8_%7C_Q8WU32_%7C_Q9UBK0|P05186|cellular_%20_response_%20_to_%20_organic_%20_cyclic_%20_compound_%20_(GO:0071407)_%7C_cementum_%20_mineralization_%20_(GO:0071529)_%7C_developmental_%20_process_%20_involved_%20_in_%20_reproduction_%20_(GO:0003006)_%7C_endochondral_%20_ossification_%20_(GO:0001958)_%7C_osteoblast_%20_differentiation_%20_(GO:0001649)_%7C_response_%20_to_%20_antibiotic_%20_(GO:0046677)_%7C_response_%20_to_%20_glucocorticoid_%20_(GO:0051384)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)_%7C_response_%20_to_%20_vitamin_%20_D_%20_(GO:0033280)_%7C_skeletal_%20_system_%20_development_%20_(GO:0001501)|anchored_%20_component_%20_of_%20_membrane_%20_(GO:0031225)_%7C_extracellular_%20_matrix_%20_(GO:0031012)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886)|alkaline_%20_phosphatase_%20_activity_%20_(GO:0004035)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_pyrophosphatase_%20_activity_%20_(GO:0016462)||||true|false||false|false|||false|false|false|ALPL:249|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|148405563|21896823|false|true|0|false|0|false|0.999244_%2C_0.000755546|false|false|false|SNV|true|0x050200000a05040402000100|1|false|134|rs148405563|] +1 23435538 rs16827981 G A . PASS FUNCOTATION=[LUZP1|hg19|chr1|23435538|23435538|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr1:23435538G>A|ENST00000302291.4|-|3|||||0.4339152119700748|CAAGCTTTCCGTCAATACTTC|LUZP1_ENST00000314174.5_INTRON/LUZP1_ENST00000418342.1_DE_NOVO_START_IN_FRAME/LUZP1_ENST00000374623.3_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC051733|||HGNC:14985|leucine_%20_zipper_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||LUZP||1p36.12|2016-10-05|||BC051733||7798|ENSG00000169641|8812416|NM_033631|||CCDS30628|OTTHUMG00000003227|7798|601422|NM_001142546|Q86V48|ENSG00000169641|uc001bgm.2|LUZP1_HUMAN||Q5TH93_%7C_Q8N4X3_%7C_Q8TEH1|Q86V48|artery_%20_development_%20_(GO:0060840)_%7C_neural_%20_fold_%20_bending_%20_(GO:0021503)_%7C_ventricular_%20_septum_%20_development_%20_(GO:0003281)|membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)|||||true|false|0.8674_%2C_0.1326|false|false|1||false|true|false|LUZP1:7798|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|16827981|23435538|false|false|0|true|0|false|0.807164_%2C_0.192836|false|false|true|SNV|true|0x050100400005150537000100|1|false|123|rs16827981|] +1 23435538 rs16827981 G AT . PASS FUNCOTATION=[LUZP1|hg19|chr1|23435538|23435539|DE_NOVO_START_OUT_FRAME||INS|-|-|T|g.chr1:23435538_23435539insAT|ENST00000302291.4|-|3|||||0.4325|AAGCTTTCCGTCAATACTTC|LUZP1_ENST00000314174.5_INTRON/LUZP1_ENST00000418342.1_DE_NOVO_START_OUT_FRAME/LUZP1_ENST00000374623.3_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC051733|||HGNC:14985|leucine_%20_zipper_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||LUZP||1p36.12|2016-10-05|||BC051733||7798|ENSG00000169641|8812416|NM_033631|||CCDS30628|OTTHUMG00000003227|7798|601422|NM_001142546|Q86V48|ENSG00000169641|uc001bgm.2|LUZP1_HUMAN||Q5TH93_%7C_Q8N4X3_%7C_Q8TEH1|Q86V48|artery_%20_development_%20_(GO:0060840)_%7C_neural_%20_fold_%20_bending_%20_(GO:0021503)_%7C_ventricular_%20_septum_%20_development_%20_(GO:0003281)|membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 23751126 exm30864 T A . PASS FUNCOTATION=[TCEA3|hg19|chr1|23751126|23751126|START_CODON_SNP||SNP|T|T|A|g.chr1:23751126T>A|ENST00000450454.2|-|1|108|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.7506234413965087|TCCTGGCCCATGTTGGCCCGC|TCEA3_ENST00000374601.3_START_CODON_SNP_p.M1L|||||||||||||||||||||||||1|upper_aerodigestive_tract(1)|||||||BC041613|NM_003196.1|NP_003187.1|HGNC:11615|transcription_%20_elongation_%20_factor_%20_A3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"transcription_%20_elongation_%20_factor_%20_A_%20_(SII)_%2C__%20_3"|TFIIS.H||1p36.12|2016-10-05||2016-02-15|AJ223473||6920|ENSG00000204219|9790746|NM_003196|||CCDS44086|OTTHUMG00000003233|6920|604128|NM_003196|O75764|ENSG00000204219|uc057dfl.1|TCEA3_HUMAN||A8K2K7_%7C_Q5DR83|O75764|regulation_%20_of_%20_DNA-templated_%20_transcription_%2C__%20_elongation_%20_(GO:0032784)_%7C_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006357)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false||false|false|||false|false|false|TCEA3:6920|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200503010|23751126|false|true|0|false|0|false|0.999794_%2C_0.000171715_%2C_3.4343e-005|false|false|false|SNV|true|0x050200000a05040402000100|1|false|137|rs200503010|] +1 23756350 exm30867 T C . PASS FUNCOTATION=[ASAP3|hg19|chr1|23756350|23756350|NONSTOP||SNP|T|T|C|g.chr1:23756350T>C|ENST00000336689.3|-|25|2756|c.2711A>G|c.(2710-2712)tAg>tGg|p.*904W|0.4763092269326683|AGCAAGGAGCTAGTCTTGCAA|ASAP3_ENST00000437606.2_NONSTOP_p.*895W/ASAP3_ENST00000495646.1_NONSTOP_p.*408W|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||CH471134|NM_017707.3|NP_060177.2|HGNC:14987|ArfGAP_%20_with_%20_SH3_%20_domain_%2C__%20_ankyrin_%20_repeat_%20_and_%20_PH_%20_domain_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DDEFL1|"development_%20_and_%20_differentiation_%20_enhancing_%20_factor-like_%20_1"|FLJ20199_%2C__%20_UPLC1_%2C__%20_CENTB6|"centaurin_%2C__%20_beta_%20_6"|1p36.12|2016-10-05|2008-09-22|2008-10-09|AK000206||55616|ENSG00000088280|14654939|NM_017707|403_%7C_682_%7C_395_%7C_1291|Ankyrin_%20_repeat_%20_domain_%20_containing_%7C_Pleckstrin_%20_homology_%20_domain_%20_containing_%7C_ArfGAPs_%7C_BAR-PH_%20_domain_%20_containing|CCDS235_%2C__%20_CCDS44087|OTTHUMG00000003234|55616|616594|NM_001143778|Q8TDY4|ENSG00000088280|uc001bha.3|ASAP3_HUMAN||B3KRW0_%7C_B4DHH4_%7C_Q6P9F4_%7C_Q86UY1_%7C_Q9NXK2|Q8TDY4|cell_%20_migration_%20_(GO:0016477)_%7C_positive_%20_regulation_%20_of_%20_ARF_%20_GTPase_%20_activity_%20_(GO:0032850)_%7C_regulation_%20_of_%20_stress_%20_fiber_%20_assembly_%20_(GO:0051492)|cytoplasm_%20_(GO:0005737)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_ruffle_%20_(GO:0001726)|ARF_%20_GTPase_%20_activator_%20_activity_%20_(GO:0008060)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false||false|false|||false|false|false|ASAP3:55616|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|148021104|23756350|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000205000402000100|1|false|134|rs148021104|] +1 24201027 var_1_24201027 AG A . PASS FUNCOTATION=[CNR2|hg19|chr1|24201028|24201028|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:24201028delG|ENST00000374472.4|-|2|1243|c.1080delC|c.(1078-1080)tgcfs|p.*361fs|0.5286783042394015|GGCCTCATCAGCAATCAGAGA|CNR2_ENST00000536471.1_FRAME_SHIFT_DEL_p.*361fs|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X74328|NM_001841.2|NP_001832.1|HGNC:2160|cannabinoid_%20_receptor_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"cannabinoid_%20_receptor_%20_2_%20_(macrophage)"|CB2||1p36.11|2016-10-05||2015-11-06|X74328||1269|ENSG00000188822||NM_001841|202|Cannabinoid_%20_receptors|CCDS245|OTTHUMG00000013892|1269|605051|NM_001841|P34972|ENSG00000188822|uc001bif.4|CNR2_HUMAN|Dronabinol(DB00470)_%7C_Nabilone(DB00486)|C6ES44_%7C_Q4VBK8_%7C_Q5JRH7_%7C_Q6B0G7_%7C_Q6NSY0|P34972|G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%2C__%20_coupled_%20_to_%20_cyclic_%20_nucleotide_%20_second_%20_messenger_%20_(GO:0007187)_%7C_immune_%20_response_%20_(GO:0006955)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_negative_%20_regulation_%20_of_%20_action_%20_potential_%20_(GO:0045759)_%7C_negative_%20_regulation_%20_of_%20_inflammatory_%20_response_%20_(GO:0050728)_%7C_negative_%20_regulation_%20_of_%20_mast_%20_cell_%20_activation_%20_(GO:0033004)_%7C_negative_%20_regulation_%20_of_%20_nitric-oxide_%20_synthase_%20_activity_%20_(GO:0051001)_%7C_negative_%20_regulation_%20_of_%20_synaptic_%20_transmission_%2C__%20_GABAergic_%20_(GO:0032229)_%7C_response_%20_to_%20_amphetamine_%20_(GO:0001975)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)_%7C_sensory_%20_perception_%20_of_%20_pain_%20_(GO:0019233)|dendrite_%20_(GO:0030425)_%7C_extrinsic_%20_component_%20_of_%20_cytoplasmic_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0031234)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)|cannabinoid_%20_receptor_%20_activity_%20_(GO:0004949)||||true|false||false|false|||false|false|false|CNR2:1269|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|758031503|24201028|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs758031503|] +1 24687425 indel.1723 T TA . PASS FUNCOTATION=[STPG1|hg19|chr1|24687425|24687426|FRAME_SHIFT_INS||INS|-|-|A|g.chr1:24687425_24687426insA|ENST00000374409.1|-|8|1099|c.843_844insT|c.(844-846)aagfs|p.K282fs|0.5|TGAAATGCTTGCGGGGGCCT|STPG1_ENST00000337248.4_FRAME_SHIFT_INS_p.K282fs/STPG1_ENST00000003583.8_FRAME_SHIFT_INS_p.K235fs/GRHL3_ENST00000350501.5_INTRON/STPG1_ENST00000440416.1_FRAME_SHIFT_INS_p.K235fs/STPG1_ENST00000468303.1_INTRON|||||||||||||||||||||||||||||||||BC063891|NM_001199012.1|NP_001185941.1|HGNC:28070|sperm_%20_tail_%20_PG-rich_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C1orf201|"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_201"|FLJ33340_%2C__%20_MAPO2|"O6-methylguanine-induced_%20_apoptosis_%20_2"|1p36.11|2016-02-26|2012-07-30|2016-02-26|BC047705||90529|ENSG00000001460|23028632|NM_178122|||CCDS253_%2C__%20_CCDS55581|OTTHUMG00000003297|90529|615826|NM_001199012|Q5TH74|ENSG00000001460|uc001bja.4|STPG1_HUMAN||Q49AP0_%7C_Q6P3R4_%7C_Q86VU9_%7C_Q8WVQ3|Q5TH74|apoptotic_%20_process_%20_(GO:0006915)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|||||true|false||false|false|||false|false|false|STPG1:90529_%7C_GRHL3:57822|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|868621625|24687425|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|147|rs868621625|] +1 31791962 exm39079 A G . PASS FUNCOTATION=[ZCCHC17|hg19|chr1|31791962|31791962|MISSENSE||SNP|A|A|G|g.chr1:31791962A>G|ENST00000373714.1|+|3|334|c.73A>G|c.(73-75)Atg>Gtg|p.M25V|0.3690773067331671|ATAGGTTGCTATGGTGACAGA|ZCCHC17_ENST00000344147.5_MISSENSE_p.M25V/ZCCHC17_ENST00000546109.1_MISSENSE_p.M17V/ZCCHC17_ENST00000422613.2_START_CODON_SNP_p.M1V/ZCCHC17_ENST00000479629.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_001282570.1|NP_001269503.1|HGNC:30246|zinc_%20_finger_%20_CCHC-type_%20_containing_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||PS1D_%2C__%20_HSPC251_%2C__%20_pNO40||1p35.2|2016-02-12||2016-02-12|AF151085||51538|ENSG00000121766|12202495_%2C__%20_12893261|NM_016505|74|Zinc_%20_fingers_%20_CCHC-type|CCDS341_%2C__%20_CCDS60061_%2C__%20_CCDS72741_%2C__%20_CCDS72742_%2C__%20_CCDS72743_%2C__%20_CCDS72744_%2C__%20_CCDS60062|OTTHUMG00000003791|51538||NM_001282566|Q9NP64|ENSG00000121766|uc001bsp.3|NO40_HUMAN||B4DY38_%7C_D3DPN4_%7C_Q6PKH4_%7C_Q9NYG4_%7C_Q9P0M8|Q9NP64||cytosolic_%20_large_%20_ribosomal_%20_subunit_%20_(GO:0022625)_%7C_nucleolus_%20_(GO:0005730)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|ZCCHC17:51538|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149257512|31791962|false|true|0|false|0|false|0.998729_%2C_0.00127069|false|false|true|SNV|true|0x050200400a05040436000100|1|false|134|rs149257512|] +1 32620194 exm40264 A G . PASS FUNCOTATION=[KPNA6|hg19|chr1|32620194|32620194|MISSENSE||SNP|A|A|G|g.chr1:32620194A>G|ENST00000373625.3|+|2|103|c.10A>G|c.(10-12)Atg>Gtg|p.M4V|0.4688279301745636|TCTAGAGACCATGGCGAGCCC|KPNA6_ENST00000537234.1_START_CODON_SNP_p.M1V/KPNA6_ENST00000545542.1_MISSENSE_p.M9V/KPNA6_ENST00000469790.1_INTRON|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471059|NM_012316.4|NP_036448.1|HGNC:6399|karyopherin_%20_subunit_%20_alpha_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"karyopherin_%20_alpha_%20_6_%20_(importin_%20_alpha_%20_7)"_%2C__%20_"karyopherin_%20_alpha_%20_6"|IPOA7_%2C__%20_KPNA7_%2C__%20_MGC17918_%2C__%20_FLJ11249|"importin_%20_alpha_%20_7"|1p35.2|2016-10-05||2016-02-01|AF060543||23633|ENSG00000025800|10523667|NM_012316|596_%7C_409|Importins_%7C_Armadillo_%20_repeat_%20_containing|CCDS352|OTTHUMG00000004333|23633|610563|NM_012316|O60684|ENSG00000025800|uc001bug.4|IMA7_HUMAN||B2RDC7_%7C_D3DPP5_%7C_Q5VVU3|O60684|maternal_%20_process_%20_involved_%20_in_%20_female_%20_pregnancy_%20_(GO:0060135)_%7C_NLS-bearing_%20_protein_%20_import_%20_into_%20_nucleus_%20_(GO:0006607)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)|cytoplasm_%20_(GO:0005737)_%7C_membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)|protein_%20_transporter_%20_activity_%20_(GO:0008565)||||true|false||false|false|||false|false|false|KPNA6:23633|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147022148|32620194|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs147022148|] +1 36558985 exm44727 T G . PASS FUNCOTATION=[ADPRHL2|hg19|chr1|36558985|36558985|NONSTOP||SNP|T|T|G|g.chr1:36558985T>G|ENST00000373178.4|+|6|1120|c.1090T>G|c.(1090-1092)Tga>Gga|p.*364G|0.571072319201995|CCAGAAGAGTTGATGAGGGCT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR457237|NM_017825.2|NP_060295.1|HGNC:21304|ADP-ribosylhydrolase_%20_like_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||ARH3_%2C__%20_FLJ20446|"ADP-ribosylarginine_%20_hydrolase_%20_like_%20_2"|1p34.3|2016-06-02|||AJ427295||54936|ENSG00000116863|12070318_%2C__%20_16278211|NM_017825|||CCDS402|OTTHUMG00000007628|54936|610624|NM_017825|Q9NX46|ENSG00000116863|uc001bzt.4|ARHL2_HUMAN||Q53G94_%7C_Q6IAB8_%7C_Q9BY47|Q9NX46||mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_poly(ADP-ribose)_%20_glycohydrolase_%20_activity_%20_(GO:0004649)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|ADPRHL2:54936|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|183554661|36558985|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000205040436000100|1|false|135|rs183554661|] +1 43232984 exm51112 T C . PASS FUNCOTATION=[C1orf50|hg19|chr1|43232984|43232984|START_CODON_SNP||SNP|T|T|C|g.chr1:43232984T>C|ENST00000372525.5|+|1|45|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6957605985037406|GGCGCTGTCATGGAGGACGCC|C1orf50_ENST00000536543.1_THREE_PRIME_UTR/LEPRE1_ENST00000236040.4_FIVE_PRIME_FLANK/LEPRE1_ENST00000296388.5_FIVE_PRIME_FLANK/LEPRE1_ENST00000397054.3_FIVE_PRIME_FLANK/C1orf50_ENST00000468913.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC001711|NM_024097.3|NP_077002.2|HGNC:28795|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_50|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC955||1p34.2|2016-10-24|||BC001711||79078|ENSG00000164008|12477932|NM_024097|||CCDS473|OTTHUMG00000191873|79078||NM_024097|Q9BV19|ENSG00000164008|uc001cia.5|CA050_HUMAN|||Q9BV19|||||||true|false|0.9996_%2C_._%2C_0.0003994|false|false|0||false|false|false|P3H1:64175_%7C_C1orf50:79078|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|200116115|43232984|false|false|0|false|0|false|0.999622_%2C_0.000171715_%2C_0.000206058|false|false|false|SNV|true|0x050000020a05040436000100|1|false|137|rs200116115|] +1 45974886 exm55303 G C . PASS FUNCOTATION=[MMACHC|hg19|chr1|45974886|45974886|NONSTOP||SNP|G|G|C|g.chr1:45974886G>C|ENST00000401061.4|+|4|1128|c.848G>C|c.(847-849)tGa>tCa|p.*283S|0.5112219451371571|CCTGGCCCTTGATTTTCTCCC|MMACHC_ENST00000477188.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC006122|NM_015506.2|NP_056321.2|HGNC:24525|methylmalonic_%20_aciduria_%20_(cobalamin_%20_deficiency)_%20_cblC_%20_type_%2C__%20_with_%20_homocystinuria|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||DKFZP564I122_%2C__%20_cblC||1p34.1|2016-07-08|||||25974|ENSG00000132763|16311595_%2C__%20_19700356_%2C__%20_19801555|NM_015506|||CCDS41324_%2C__%20_CCDS81315|OTTHUMG00000007742|25974|609831|NM_015506|Q9Y4U1|ENSG00000132763|uc009vxv.4|MMAC_HUMAN|Cyanocobalamin(DB00115)_%7C_Hydroxocobalamin(DB00200)|Q5T157_%7C_Q9BRQ7|Q9Y4U1|cobalamin_%20_biosynthetic_%20_process_%20_(GO:0009236)_%7C_cobalamin_%20_metabolic_%20_process_%20_(GO:0009235)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)_%7C_mitochondrion_%20_(GO:0005739)|cobalamin_%20_binding_%20_(GO:0031419)||||true|false||false|false|||false|false|false|MMACHC:25974|false|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201025783|45974886|false|false|0|false|0|false|0.999244_%2C_0.000240401_%2C_0.000515145|false|false|false|SNV|true|0x050000000205040416000100|1|false|137|rs201025783|] +1 47013404 exm56794 A G . PASS FUNCOTATION=[KNCN|hg19|chr1|47013404|47013404|NONSTOP||SNP|A|A|G|g.chr1:47013404A>G|ENST00000396314.3|-|3|304|c.304T>C|c.(304-306)Tga>Cga|p.*102R|0.6508728179551122|ACTTTGCCTCAGCATTCCTCA|KNCN_ENST00000481882.2_NONSTOP_p.*125R/MKNK1-AS1_ENST00000602433.1_RNA/KNCN_ENST00000524908.1_INTRON|||||||||||||||||||||||||||||||||DA208279|NM_001097611.1|NP_001091080.1|HGNC:26488|kinocilin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32011_%2C__%20_KINO_%2C__%20_L5||1p33|2014-02-12||2006-10-26|AK056573||148930|ENSG00000162456|15855039|NM_182516|||CCDS44133_%2C__%20_CCDS81316|OTTHUMG00000007987|148930|611455|NM_001097611|A6PVL3|ENSG00000162456|uc009vyh.2|KNCN_HUMAN||A8MXE3|A6PVL3||apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_ciliary_%20_basal_%20_body_%20_(GO:0036064)_%7C_cuticular_%20_plate_%20_(GO:0032437)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_kinocilium_%20_(GO:0060091)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)|||||true|false|0.9964_%2C_0.003594|false|false|1||false|false|false|MKNK1-AS1:100507423_%7C_KNCN:148930|false|true|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|140455646|47013404|false|false|0|false|0|false|0.993337_%2C_0.00666255|false|false|false|SNV|true|0x050000080205040426000100|1|false|134|rs140455646|] +1 47075329 exm56885 A G . PASS FUNCOTATION=[MOB3C|hg19|chr1|47075329|47075329|NONSTOP||SNP|A|A|G|g.chr1:47075329A>G|ENST00000371940.1|-|3|3793|c.718T>C|c.(718-720)Tga>Cga|p.*240R|0.543640897755611|ACCTGGGCTCAGTGGCAGATC|MOB3C_ENST00000271139.8_NONSTOP_p.*269R/MOB3C_ENST00000319928.3_NONSTOP_p.*217R/MKNK1_ENST00000545730.1_INTRON|||||||||||||||||||||||||||||||||CH471059|||HGNC:29800|MOB_%20_kinase_%20_activator_%20_3C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MOBKL2C|"MOB1_%2C__%20_Mps_%20_One_%20_Binder_%20_kinase_%20_activator-like_%20_2C_%20_(yeast)"|MOB1E||1p33|2016-10-05|2011-09-28|2011-09-28|AK091808||148932|ENSG00000142961|12477932|NM_145279|647|MOB_%20_kinase_%20_activators|CCDS539_%2C__%20_CCDS540|OTTHUMG00000007989|148932||NM_145279|Q70IA8|ENSG00000142961|uc001cqf.4|MOB3C_HUMAN||D3DQ22_%7C_Q0VA98_%7C_Q5TC10_%7C_Q5TC11_%7C_Q8NAZ2_%7C_Q8NF28|Q70IA8|||metal_%20_ion_%20_binding_%20_(GO:0046872)||||true|false||false|false|||false|false|false|MOB3C:148932|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|149444077|47075329|false|false|0|true|0|false|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050100000205040402000100|1|false|134|rs149444077|] +1 55207184 var_1_55207184 T TAG . PASS FUNCOTATION=[TTC4|hg19|chr1|55207184|55207185|FRAME_SHIFT_INS||INS|-|-|AG|g.chr1:55207184_55207185insAG|ENST00000371281.3|+|10|1249|c.1162_1163insAG|c.(1162-1164)tgafs|p.L389fs|0.51|CAGATACGATGACTAAGCCA|TTC4_ENST00000371284.5_INTRON/MROH7-TTC4_ENST00000414150.2_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_004623.4|NP_004614.3|HGNC:12394|tetratricopeptide_%20_repeat_%20_domain_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC5097_%2C__%20_FLJ41930_%2C__%20_CNS1||1p32.3|2017-05-19|||||7268|ENSG00000243725|9933562|NM_004623|769|Tetratricopeptide_%20_repeat_%20_domain_%20_containing|CCDS596|OTTHUMG00000009914|7268|606753|NM_001291333|O95801|ENSG00000243725|uc001cxx.5|TTC4_HUMAN||Q53Y95_%7C_Q5TA96_%7C_Q9H3I2|O95801|||||||true|false||false|false|||false|false|false|TTC4:7268_%7C_MROH7-TTC4:100527960|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|775455587|55207184|false|false|0|false|0|true||false|false|false|DIV|true|0x050000000305040402000200|1|false|144|rs775455587|] +1 55307347 exm62368 T G . PASS FUNCOTATION=[C1orf177|hg19|chr1|55307347|55307347|INTRON||SNP|T|T|G|g.chr1:55307347T>G|ENST00000371273.3|+|||c.e10-127T>G|||0.4339152119700748|CTCACCAATGTAGGATCTCCT|C1orf177_ENST00000358193.3_NONSTOP_p.*415E|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC064142|NM_001110533.1|NP_001104003.1||||||||||||||||||||||||||||||CA177_HUMAN||B7WPL2_%7C_Q8N7Y9|Q3ZCV2|||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|LEXM:163747|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|147344078|55307347|false|false|0|false|0|false|0.999451_%2C_0.000549488|false|false|false|SNV|true|0x050000080205040436000100|1|false|134|rs147344078|] +1 60228254 exm1845312 T C . PASS FUNCOTATION=[FGGY|hg19|chr1|60228254|60228254|NONSTOP||SNP|T|T|C|g.chr1:60228254T>C|ENST00000371218.4|+|17|1910|c.1726T>C|c.(1726-1728)Tga>Cga|p.*576R|0.3765586034912718|GAATGATGACTGAACAGGGCT|FGGY_ENST00000371212.1_NONSTOP_p.*464R/FGGY_ENST00000303721.7_NONSTOP_p.*552R/FGGY_ENST00000371210.1_NONSTOP_p.*253R/RP4-782L23.2_ENST00000443012.1_RNA|||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(1)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471059|NM_001113411.1|NP_001106882.1|HGNC:25610|FGGY_%20_carbohydrate_%20_kinase_%20_domain_%20_containing|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ10986||1p32.1|2015-09-11|||||55277|ENSG00000172456|17671248|NM_001113411|||CCDS611_%2C__%20_CCDS44155_%2C__%20_CCDS58003_%2C__%20_CCDS60155|OTTHUMG00000008424|55277|611370|NM_001113411|Q96C11|ENSG00000172456|uc001czi.6|FGGY_HUMAN||B1AK92_%7C_B1AK93_%7C_B1AK94_%7C_B2RDR8_%7C_D3DQ56_%7C_Q9HA63_%7C_Q9NV20|Q96C11|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_cell_%20_death_%20_(GO:0008219)_%7C_neuron_%20_cellular_%20_homeostasis_%20_(GO:0070050)||kinase_%20_activity_%20_(GO:0016301)_%7C_phosphotransferase_%20_activity_%2C__%20_alcohol_%20_group_%20_as_%20_acceptor_%20_(GO:0016773)||||true|false|0.9996_%2C_0.0003994_%2C_.|false|false|0||false|false|false|FGGY:55277|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201875327|60228254|false|false|0|false|0|false|0.999897_%2C_._%2C_0.000103029|false|false|false|SNV|true|0x050000000205040436000100|1|false|137|rs201875327|] +1 67160814 rs1325267 C T . PASS FUNCOTATION=[SGIP1|hg19|chr1|67160814|67160814|INTRON||SNP|C|C|T|g.chr1:67160814C>T|ENST00000237247.6|+|||c.e20-303C>T|||0.4014962593516209|AATATGCTGACGCCCCTGCAT|SGIP1_ENST00000371037.4_INTRON/SGIP1_ENST00000371039.1_INTRON/SGIP1_ENST00000435165.2_DE_NOVO_START_IN_FRAME/SGIP1_ENST00000371036.3_INTRON/SGIP1_ENST00000371035.3_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR749541|||HGNC:25412|SH3_%20_domain_%20_GRB2_%20_like_%20_endophilin_%20_interacting_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||DKFZp761D221||1p31.3|2016-05-18||2016-05-18|AL136561||84251|ENSG00000118473|11230166|NM_032291|||CCDS30744_%2C__%20_CCDS76171|OTTHUMG00000009161|84251|611540|NM_001308203|Q9BQI5|ENSG00000118473|uc001dcr.4|SGIP1_HUMAN||A6NL81_%7C_A6NLD1_%7C_Q4LE32_%7C_Q5VYE2_%7C_Q5VYE3_%7C_Q5VYE4_%7C_Q68D76_%7C_Q6MZY6_%7C_Q8IWC2|Q9BQI5|endocytosis_%20_(GO:0006897)_%7C_membrane_%20_tubulation_%20_(GO:0097320)_%7C_positive_%20_regulation_%20_of_%20_energy_%20_homeostasis_%20_(GO:2000507)_%7C_positive_%20_regulation_%20_of_%20_feeding_%20_behavior_%20_(GO:2000253)_%7C_positive_%20_regulation_%20_of_%20_receptor-mediated_%20_endocytosis_%20_(GO:0048260)_%7C_response_%20_to_%20_dietary_%20_excess_%20_(GO:0002021)|AP-2_%20_adaptor_%20_complex_%20_(GO:0030122)_%7C_clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_coated_%20_pit_%20_(GO:0005905)_%7C_cytoplasm_%20_(GO:0005737)_%7C_plasma_%20_membrane_%20_(GO:0005886)|microtubule_%20_binding_%20_(GO:0008017)_%7C_phospholipid_%20_binding_%20_(GO:0005543)_%7C_SH3_%20_domain_%20_binding_%20_(GO:0017124)||||true|false|0.7632_%2C_0.2368|false|false|1||false|true|true|SGIP1:84251|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|1325267|67160814|false|false|0|true|0|false|0.864585_%2C_0.135415|false|false|false|SNV|true|0x05010008000517053f000100|1|false|88|rs1325267|] +1 67288063 indel.4057 G GCT . PASS FUNCOTATION=[WDR78|hg19|chr1|67288063|67288064|FRAME_SHIFT_INS||INS|-|-|CT|g.chr1:67288063_67288064insCT|ENST00000371026.3|-|16|2533|c.2476_2477insAG|c.(2476-2478)actfs|p.T826fs|0.3275|TCCAAAACAGTAGGCATATT|WDR78_ENST00000431318.1_FRAME_SHIFT_INS_p.T539fs/RP11-342H21.2_ENST00000456389.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC032406|NM_024763.4|NP_079039.4|HGNC:26252|WD_%20_repeat_%20_domain_%20_78|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||DIC4_%2C__%20_FLJ23129||1p31.3|2016-10-05|2013-02-19|2013-02-19|BX648840||79819|ENSG00000152763|21953912|NM_024763|362|WD_%20_repeat_%20_domain_%20_containing|CCDS635_%2C__%20_CCDS44157|OTTHUMG00000009165|79819||NM_024763|Q5VTH9|ENSG00000152763|uc001dcx.5|WDR78_HUMAN||A8K9W5_%7C_B5MDT3_%7C_H7BY80_%7C_Q5VTI0_%7C_Q8N5G5_%7C_Q9H5R9_%7C_Q9UF44|Q5VTH9|hematopoietic_%20_progenitor_%20_cell_%20_differentiation_%20_(GO:0002244)||||||true|false||false|false|||false|false|false|WDR78:79819|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|754415129|67288063|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs754415129|] +1 67773351 rs12142823 C T . PASS FUNCOTATION=[IL12RB2|hg19|chr1|67773351|67773351|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:67773351C>T|ENST00000262345.1|+|1|||||0.6633416458852868|GTGGAAACCACGGGCGCCCGC|IL12RB2_ENST00000371000.1_DE_NOVO_START_OUT_FRAME/IL12RB2_ENST00000541374.1_FIVE_PRIME_FLANK/IL12RB2_ENST00000544434.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U64198|NM_001559.2|NP_001550.1|HGNC:5972|interleukin_%20_12_%20_receptor_%20_subunit_%20_beta_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"interleukin_%20_12_%20_receptor_%2C__%20_beta_%20_2"|||1p31.3|2016-10-05||2015-12-11|U64198||3595|ENSG00000081985|9284929_%2C__%20_8943050|NM_001559|555_%7C_602|Fibronectin_%20_type_%20_III_%20_domain_%20_containing_%7C_Interleukin_%20_receptors|CCDS638_%2C__%20_CCDS58006_%2C__%20_CCDS58007_%2C__%20_CCDS72805|OTTHUMG00000009094|3595|601642|NM_001258214|Q99665|ENSG00000081985|uc001ddu.3|I12R2_HUMAN||B1AN98_%7C_B7ZKL9_%7C_F5H7L6_%7C_Q2M3V3|Q99665|cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007166)_%7C_cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_interferon-gamma_%20_production_%20_(GO:0032609)_%7C_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0018108)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_interferon-gamma_%20_production_%20_(GO:0032729)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)|external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)|cytokine_%20_receptor_%20_activity_%20_(GO:0004896)||||true|false|0.8325_%2C_._%2C_0.1675|false|false|1||false|true|true|IL12RB2:3595|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|12142823|67773351|false|false|0|true|0|false|0.85727_%2C_6.8686e-005_%2C_0.142661|false|false|true|SNV|true|0x05010042000517053e000100|1|false|120|rs12142823|] +1 74671167 var_1_74671167 A ATTTC . PASS FUNCOTATION=[FPGT-TNNI3K|hg19|chr1|74671167|74671168|INTRON||INS|-|-|TTTC|g.chr1:74671167_74671168insTTTC|ENST00000370899.3|+|||c.e3+4073A>ATTTC|||0.395|ACTTGAAAAAGAGTGTGAAA|FPGT-TNNI3K_ENST00000557284.2_INTRON/FPGT_ENST00000370898.3_FRAME_SHIFT_INS_p.K492fs/FPGT_ENST00000534056.1_FRAME_SHIFT_INS_p.K225fs/FPGT_ENST00000370894.5_THREE_PRIME_UTR/FPGT-TNNI3K_ENST00000370895.1_INTRON/FPGT-TNNI3K_ENST00000370893.1_INTRON/FPGT_ENST00000609362.1_FRAME_SHIFT_INS_p.K479fs/TNNI3K_ENST00000370891.2_INTRON/FPGT_ENST00000524915.1_INTRON/FPGT-TNNI3K_ENST00000533006.1_INTRON|||||||||||||||||||||||||||||||||BX470253|NM_001199327.1|NP_001186256.2|HGNC:42952|FPGT-TNNI3K_%20_readthrough|Approved|readthrough|other|||||1p31.1|2016-10-05|||||100526835|ENSG00000259030|||403|Ankyrin_%20_repeat_%20_domain_%20_containing||OTTHUMG00000166281|100526835||NM_001112808||ENSG00000259030|uc001dge.4|||||||||||true|false||false|false|||false|false|false|FPGT-TNNI3K:100526835_%7C_FPGT:8790|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|763292758|74671167|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|true|false|DIV|true|0x050000881205040402000200|1|false|144|rs763292758|] +1 86841963 indel.4587 G GT . PASS FUNCOTATION=[ODF2L|hg19|chr1|86841963|86841964|FRAME_SHIFT_INS||INS|-|-|T|g.chr1:86841963_86841964insT|ENST00000370566.3|-|8|1130|c.762_763insA|c.(763-765)catfs|p.H255fs|0.2775|CTGTAAAATGGTCAAGCCTT|ODF2L_ENST00000359242.3_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000294678.2_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000317336.7_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000370567.1_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000394731.1_FRAME_SHIFT_INS_p.H124fs/ODF2L_ENST00000524695.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||69|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR591511|NM_001184766.1|NP_001171695.1|HGNC:29225|outer_%20_dense_%20_fiber_%20_of_%20_sperm_%20_tails_%20_2_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"outer_%20_dense_%20_fiber_%20_of_%20_sperm_%20_tails_%20_2-like"|KIAA1229||1p22.3|2016-04-25||2016-02-23|||57489|ENSG00000122417|10574462||||CCDS30763_%2C__%20_CCDS41354_%2C__%20_CCDS53339|OTTHUMG00000010080|57489||NM_001007022|Q9ULJ1|ENSG00000122417|uc001dlm.3|ODF2L_HUMAN||A8MU56_%7C_B4E037_%7C_Q05C40_%7C_Q5BJG5_%7C_Q5TBX3_%7C_Q5TBX4_%7C_Q86X31|Q9ULJ1||centrosome_%20_(GO:0005813)|||||true|false||false|false|||false|false|false|ODF2L:57489|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|867604743|86841963|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|147|rs867604743|] +1 92729242 indel.4840 A AG . PASS FUNCOTATION=[GLMN|hg19|chr1|92729242|92729243|FRAME_SHIFT_INS||INS|-|-|G|g.chr1:92729242_92729243insG|ENST00000370360.3|-|15|1429|c.1346_1347insC|c.(1345-1347)cttfs|p.L450fs|0.325|CAAATCAAGAAGGGAAATCA|GLMN_ENST00000534881.1_FRAME_SHIFT_INS_p.L436fs|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)||||Multiple_%20_Glomus_%20_Tumors_%20_(of_%20_the_%20_Skin)_%2C__%20_Familial|Multiple_%20_Familial_%20_Glomangiomas_%2C__%20_Hereditary_%20_Multiple_%20_Glomus_%20_Tumors_%2C__%20_Familial_%20_Multiple_%20_Glomangiomatosis_%2C__%20_Inherited_%20_Cutaneous_%20_Venous_%20_Anomalies_%2C__%20_incl._%20_Familial_%20_Multiple_%20_Glomangiomyoma|Familial_%20_Cancer_%20_Database|U73704|NM_053274.2|NP_444504.1|HGNC:14373|glomulin_%2C__%20_FKBP_%20_associated_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|VMGLOM|"venous_%20_malformation_%20_with_%20_glomus_%20_cells"|FAP48_%2C__%20_GLML_%2C__%20_GVM_%2C__%20_FKBPAP||1p22.1|2014-11-19||2004-07-01|U73704||11146|ENSG00000174842|8955134|NM_007070|||CCDS738|OTTHUMG00000010283|11146|601749|NM_001319683|Q92990|ENSG00000174842|uc001dor.4|GLMN_HUMAN||Q5VVC3_%7C_Q9BVE8|Q92990|muscle_%20_cell_%20_differentiation_%20_(GO:0042692)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_T_%20_cell_%20_proliferation_%20_(GO:0042130)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_positive_%20_regulation_%20_of_%20_cytokine_%20_secretion_%20_(GO:0050715)_%7C_positive_%20_regulation_%20_of_%20_interleukin-2_%20_biosynthetic_%20_process_%20_(GO:0045086)_%7C_positive_%20_regulation_%20_of_%20_phosphorylation_%20_(GO:0042327)_%7C_regulation_%20_of_%20_gene_%20_expression_%2C__%20_epigenetic_%20_(GO:0040029)_%7C_regulation_%20_of_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0032434)_%7C_vasculogenesis_%20_(GO:0001570)|Cul2-RING_%20_ubiquitin_%20_ligase_%20_complex_%20_(GO:0031462)_%7C_Cul3-RING_%20_ubiquitin_%20_ligase_%20_complex_%20_(GO:0031463)_%7C_Cul4A-RING_%20_E3_%20_ubiquitin_%20_ligase_%20_complex_%20_(GO:0031464)_%7C_cullin-RING_%20_ubiquitin_%20_ligase_%20_complex_%20_(GO:0031461)_%7C_intracellular_%20_(GO:0005622)|hepatocyte_%20_growth_%20_factor_%20_receptor_%20_binding_%20_(GO:0005171)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625)_%7C_ubiquitin-protein_%20_transferase_%20_inhibitor_%20_activity_%20_(GO:0055105)||||true|false||false|false|||false|false|false|GLMN:11146|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|763357116|92729242|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs763357116|] +1 100327026 rs2307129 C T . PASS FUNCOTATION=[AGL|hg19|chr1|100327026|100327026|INTRON||SNP|C|C|T|g.chr1:100327026C>T|ENST00000294724.4|+|||c.e3-33C>T|||0.32418952618453867|TTAAGTCCTACGATGAGTTTA|AGL_ENST00000361915.3_INTRON/AGL_ENST00000370163.3_INTRON/AGL_ENST00000370165.3_INTRON/AGL_ENST00000361522.4_DE_NOVO_START_IN_FRAME/AGL_ENST00000361302.3_INTRON/AGL_ENST00000370161.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U84011|NM_000028.2|NP_000019.2|HGNC:321|amylo-alpha-1_%2C__%20_6-glucosidase_%2C__%20_4-alpha-glucanotransferase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"amylo-1_%2C__%20_6-glucosidase_%2C__%20_4-alpha-glucanotransferase"||"glycogen_%20_debranching_%20_enzyme"_%2C__%20_"glycogen_%20_storage_%20_disease_%20_type_%20_III"|1p21.2|2016-10-05||2010-04-27|BC078663|2.4.1.25_%2C__%20_3.2.1.33|178|ENSG00000162688|1505983|NM_000028|||CCDS759_%2C__%20_CCDS760|OTTHUMG00000010803|178|610860|NM_000028|P35573|ENSG00000162688|uc001dsi.2|GDE_HUMAN||A6NCX7_%7C_A6NEK2_%7C_D3DT51_%7C_P78354_%7C_P78544_%7C_Q59H92_%7C_Q6AZ90_%7C_Q9UF08|P35573|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_glycogen_%20_biosynthetic_%20_process_%20_(GO:0005978)_%7C_glycogen_%20_catabolic_%20_process_%20_(GO:0005980)_%7C_response_%20_to_%20_glucocorticoid_%20_(GO:0051384)_%7C_response_%20_to_%20_nutrient_%20_(GO:0007584)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_inclusion_%20_body_%20_(GO:0016234)_%7C_isoamylase_%20_complex_%20_(GO:0043033)_%7C_nucleus_%20_(GO:0005634)_%7C_sarcoplasmic_%20_reticulum_%20_(GO:0016529)|4-alpha-glucanotransferase_%20_activity_%20_(GO:0004134)_%7C_amylo-alpha-1_%2C_6-glucosidase_%20_activity_%20_(GO:0004135)_%7C_glycogen_%20_debranching_%20_enzyme_%20_activity_%20_(GO:0004133)_%7C_polysaccharide_%20_binding_%20_(GO:0030247)||||true|false|0.7728_%2C_0.2272|false|false|1||false|true|true|AGL:178|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|2307129|100327026|true|false|0|true|0|false|0.729068_%2C_0.270932|false|false|true|SNV|true|0x05012848000517053f000100|1|false|100|rs2307129|] +1 110300600 indel.5498 C CCTGCTGGTTTT . PASS FUNCOTATION=[EPS8L3|hg19|chr1|110300600|110300601|FRAME_SHIFT_INS||INS|-|-|CTGCTGGTTTT|g.chr1:110300600_110300601insCTGCTGGTTTT|ENST00000369805.3|-|9|1031|c.800_801insAAAACCAGCAG|c.(799-801)aagfs|p.K269fs|0.58|AAATTTCTTCTTCCTGCTGG|EPS8L3_ENST00000361965.4_FRAME_SHIFT_INS_p.K268fs/EPS8L3_ENST00000361852.4_FRAME_SHIFT_INS_p.K268fs/RP4-735C1.4_ENST00000431955.1_RNA|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(12)_%7C_lung(1)_%7C_pancreas(22)|||||||BC012926|NM_139053.2|NP_620641.1|HGNC:21297|EPS8_%20_like_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"EPS8-like_%20_3"|FLJ21522_%2C__%20_MGC16817||1p13.3|2016-10-05||2016-01-20|AK025175||79574|ENSG00000198758|12620401|NM_024526|||CCDS813_%2C__%20_CCDS814_%2C__%20_CCDS815|OTTHUMG00000011651|79574|614989|NM_001319952|Q8TE67|ENSG00000198758|uc001dyq.3|ES8L3_HUMAN||A8K833_%7C_Q5T8Q6_%7C_Q5T8Q7_%7C_Q5T8Q8_%7C_Q96E47_%7C_Q9H719|Q8TE67||cytoplasm_%20_(GO:0005737)|||||true|false||false|false|||false|false|false|EPS8L3:79574_%7C_LOC101928585:101928585|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|562835845|110300600|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|DIV|true|0x050000081205040402000200|1|false|142|rs562835845|] +1 113010195 exm84380 T G . PASS FUNCOTATION=[WNT2B|hg19|chr1|113010195|113010195|DE_NOVO_START_OUT_FRAME||SNP|T|T|G|g.chr1:113010195T>G|ENST00000256640.5|+|1|||||0.36658354114713215|CCATAAGCATTTTTGGAATTC|WNT2B_ENST00000369686.5_MISSENSE_p.I12M|||||||||||||||||||||||||523|biliary_tract(2)_%7C_breast(186)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(134)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL354760|||HGNC:12781|Wnt_%20_family_%20_member_%20_2B|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|WNT13|"wingless-type_%20_MMTV_%20_integration_%20_site_%20_family_%2C__%20_member_%20_2B"|XWNT2|"XWNT2_%2C__%20_Xenopus_%2C__%20_homolog_%20_of"_%2C__%20_"wingless-type_%20_MMTV_%20_integration_%20_site_%20_family_%2C__%20_member_%20_13"|1p13.2|2016-10-05||2016-03-18|AB045116||7482|ENSG00000134245|8761309_%2C__%20_10944466|NM_004185|360|Wnt_%20_family|CCDS847_%2C__%20_CCDS846_%2C__%20_CCDS76188|OTTHUMG00000011157|7482|601968|NM_001291880|Q93097|ENSG00000134245|uc001ecb.4|WNT2B_HUMAN||O14903_%7C_Q5TEH9_%7C_Q5TEI2_%7C_Q9HDC1_%7C_Q9HDC2|Q93097|canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0060070)_%7C_cell_%20_fate_%20_commitment_%20_(GO:0045165)_%7C_cellular_%20_response_%20_to_%20_starvation_%20_(GO:0009267)_%7C_chondrocyte_%20_differentiation_%20_(GO:0002062)_%7C_cornea_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0061303)_%7C_forebrain_%20_regionalization_%20_(GO:0021871)_%7C_hematopoietic_%20_stem_%20_cell_%20_proliferation_%20_(GO:0071425)_%7C_iris_%20_morphogenesis_%20_(GO:0061072)_%7C_lens_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0002088)_%7C_lung_%20_induction_%20_(GO:0060492)_%7C_male_%20_gonad_%20_development_%20_(GO:0008584)_%7C_mesenchymal-epithelial_%20_cell_%20_signaling_%20_(GO:0060638)_%7C_neuron_%20_differentiation_%20_(GO:0030182)_%7C_positive_%20_regulation_%20_of_%20_branching_%20_involved_%20_in_%20_ureteric_%20_bud_%20_morphogenesis_%20_(GO:0090190)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_proteinaceous_%20_extracellular_%20_matrix_%20_(GO:0005578)|frizzled_%20_binding_%20_(GO:0005109)||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|WNT2B:7482|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|189656664|113010195|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|true|SNV|true|0x050000400a05040436000100|1|false|135|rs189656664|] +1 114447565 exm2230834 G A . PASS FUNCOTATION=[AP4B1|hg19|chr1|114447565|114447565|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:114447565G>A|ENST00000369569.1|-|1|||||0.6309226932668329|AGGCCCTACCGTCGGCCGGCA|AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME/DCLRE1B_ENST00000369563.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369566.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369567.1_FIVE_PRIME_FLANK/DCLRE1B_ENST00000466480.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC014146|NM_001253852.1|NP_001240781.1|HGNC:572|adaptor_%20_related_%20_protein_%20_complex_%20_4_%20_beta_%20_1_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SPG47|"spastic_%20_paraplegia_%20_47"_%2C__%20_"adaptor-related_%20_protein_%20_complex_%20_4_%2C__%20_beta_%20_1_%20_subunit"|BETA-4|"beta_%20_4_%20_subunit_%20_of_%20_AP-4"_%2C__%20_"AP-4_%20_complex_%20_subunit_%20_beta-1"|1p13.2|2016-01-19||2016-01-12|AF092094||10717|ENSG00000134262|10066790|NM_006594|||CCDS865_%2C__%20_CCDS76192|OTTHUMG00000011943|10717|607245|NM_001253852|Q9Y6B7|ENSG00000134262|uc001eed.4|AP4B1_HUMAN||B7Z4X3_%7C_Q59EJ4_%7C_Q96CL6|Q9Y6B7|intracellular_%20_protein_%20_transport_%20_(GO:0006886)_%7C_vesicle-mediated_%20_transport_%20_(GO:0016192)|clathrin_%20_adaptor_%20_complex_%20_(GO:0030131)_%7C_coated_%20_pit_%20_(GO:0005905)_%7C_trans-Golgi_%20_network_%20_(GO:0005802)|protein_%20_transporter_%20_activity_%20_(GO:0008565)_%7C_transporter_%20_activity_%20_(GO:0005215)||||true|false|0.6705_%2C_0.3295|false|false|1||false|true|false|DCLRE1B:64858_%7C_AP4B1:10717|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1217397|114447565|true|false|0|true|0|false|0.586304_%2C_0.413696|false|false|true|SNV|true|0x0501004a000515053f000101|1|false|87|rs1217397|] +1 120307172 indel.6031 A ATTGGCCTCCAGGGCCA . PASS FUNCOTATION=[HMGCS2|hg19|chr1|120307172|120307173|FRAME_SHIFT_INS||INS|-|-|TTGGCCTCCAGGGCCA|g.chr1:120307172_120307173insTTGGCCTCCAGGGCCA|ENST00000369406.3|-|2|232|c.181_182insTGGCCCTGGAGGCCAA|c.(181-183)gtcfs|p.Y62fs|0.4875|GGGAAGTAGACCTCCAGGGC|HMGCS2_ENST00000544913.2_FRAME_SHIFT_INS_p.Y62fs/HMGCS2_ENST00000476640.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||X83618|NM_005518.3|NP_005509.1|HGNC:5008|3-hydroxy-3-methylglutaryl-CoA_%20_synthase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"3-hydroxy-3-methylglutaryl-Coenzyme_%20_A_%20_synthase_%20_2_%20_(mitochondrial)"_%2C__%20_"3-hydroxy-3-methylglutaryl-CoA_%20_synthase_%20_2_%20_(mitochondrial)"|||1p12|2017-03-24||2016-01-21|BC044217|2.3.3.10|3158|ENSG00000134240|7851882_%2C__%20_7893153|NM_005518|||CCDS905_%2C__%20_CCDS53353|OTTHUMG00000012101|3158|600234|NM_001166107|P54868|ENSG00000134240|uc001eid.4|HMCS2_HUMAN||B7Z8R3_%7C_D3Y5K6_%7C_Q5SZU2_%7C_Q6IBF4|P54868|cellular_%20_ketone_%20_body_%20_metabolic_%20_process_%20_(GO:0046950)_%7C_cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_cholesterol_%20_biosynthetic_%20_process_%20_(GO:0006695)_%7C_isoprenoid_%20_biosynthetic_%20_process_%20_(GO:0008299)_%7C_ketone_%20_body_%20_biosynthetic_%20_process_%20_(GO:0046951)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)_%7C_mitochondrion_%20_(GO:0005739)|hydroxymethylglutaryl-CoA_%20_synthase_%20_activity_%20_(GO:0004421)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 156571202 exm109653 G A . PASS FUNCOTATION=[GPATCH4|hg19|chr1|156571202|156571202|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:156571202G>A|ENST00000438976.2|-|1|61|c.30C>T|c.(28-30)gaC>gaT|p.D10D|0.5610972568578554|GCCCCTTACCGTCATTGCTGG|GPATCH4_ENST00000368232.4_DE_NOVO_START_OUT_FRAME/GPATCH4_ENST00000334588.7_DE_NOVO_START_OUT_FRAME/GPATCH4_ENST00000497287.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL365181|||HGNC:25982|G-patch_%20_domain_%20_containing_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|GPATC4||FLJ20249_%2C__%20_DKFZP434F1735||1q22-q23.1|2017-06-08|2006-12-13|2015-11-13|BC056904||54865|ENSG00000160818|12477932|NM_017725|579|G-patch_%20_domain_%20_containing|CCDS1146_%2C__%20_CCDS44245|OTTHUMG00000033203|54865||NM_015590|Q5T3I0|ENSG00000160818|uc001fpl.4|GPTC4_HUMAN||Q5T3I1_%7C_Q6ZUE7_%7C_Q8IWG8_%7C_Q9NXH4|Q5T3I0|||poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||true|false||false|false|||false|false|false|GPATCH4:54865|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|202090190|156571202|false|false|0|false|0|true|0.999279_%2C_0.000721203|false|false|true|SNV|true|0x050000400305040402000100|1|false|137|rs202090190|] +1 171154418 rs28369797 C T . PASS FUNCOTATION=[FMO2|hg19|chr1|171154418|171154418|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:171154418C>T|ENST00000209929.7|+|1|||||0.43640897755610975|CTCTTAAAAACGCTTCCAACT|FMO2_ENST00000441535.1_DE_NOVO_START_OUT_FRAME/FMO2_ENST00000529935.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Y09267|||HGNC:3770|flavin_%20_containing_%20_monooxygenase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"flavin_%20_containing_%20_monooxygenase_%20_2_%20_(non-functional)"|||1q24.3|2016-04-25||2015-11-04|BC005894||2327|ENSG00000094963|1417778_%2C__%20_9804831|NM_001460|||CCDS1293|OTTHUMG00000035504|2327|603955|NM_001301347|Q99518|ENSG00000094963|uc057ngi.1|FMO4_HUMAN||Q53XR0|P31512|drug_%20_catabolic_%20_process_%20_(GO:0042737)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|flavin_%20_adenine_%20_dinucleotide_%20_binding_%20_(GO:0050660)_%7C_N_%2C_N-dimethylaniline_%20_monooxygenase_%20_activity_%20_(GO:0004499)_%7C_NADP_%20_binding_%20_(GO:0050661)||||true|false|0.9882_%2C_._%2C_0.01178|false|false|1||false|true|false|FMO2:2327|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28369797|171154418|false|false|0|true|0|false|0.993028_%2C_._%2C_0.00697163|true|false|true|SNV|true|0x050110400005150537000100|1|false|125|rs28369797|] +1 209932121 rs10489341 C T . PASS FUNCOTATION=[TRAF3IP3|hg19|chr1|209932121|209932121|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:209932121C>T|ENST00000367024.1|+|1|||||0.5236907730673317|GAATTTCCAACGCTCAGGATC|TRAF3IP3_ENST00000367025.3_INTRON/TRAF3IP3_ENST00000367026.3_INTRON/TRAF3IP3_ENST00000400959.3_INTRON/TRAF3IP3_ENST00000010338.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||247|biliary_tract(2)_%7C_breast(49)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471100|||HGNC:30766|TRAF3_%20_interacting_%20_protein_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||T3JAM|"TRAF3_%20_interacting_%20_Jun_%20_N_%20_terminal_%20_kinase_%20_(JNK)_%20_activating_%20_modulator"|1q32.2|2016-10-05|||||80342|ENSG00000009790|14572659||||CCDS1490_%2C__%20_CCDS73023_%2C__%20_CCDS81422|OTTHUMG00000036480|80342|608255|NM_001287754|Q9Y228|ENSG00000009790|uc001hho.5|T3JAM_HUMAN||A1L464_%7C_A6NIU9_%7C_Q2YDB5_%7C_Q4VY06_%7C_Q7Z706|Q9Y228||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.8838_%2C_0.1162|false|false|1||false|true|false|TRAF3IP3:80342|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|10489341|209932121|false|false|0|true|0|false|0.849876_%2C_0.150124|false|false|true|SNV|true|0x05012848000515053f000100|1|false|119|rs10489341|] +1 228296020 variant.10429 C A . PASS FUNCOTATION=[MRPL55|hg19|chr1|228296020|228296020|DE_NOVO_START_IN_FRAME||SNP|C|C|A|g.chr1:228296020C>A|ENST00000366735.1|-|1|||||0.5286783042394015|GGCGTGCAACCTGCTAGGCAG|MRPL55_ENST00000366734.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366740.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366742.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000411464.2_SPLICE_SITE/MRPL55_ENST00000366733.1_SPLICE_SITE/MRPL55_ENST00000336520.3_SPLICE_SITE/MRPL55_ENST00000366744.1_SPLICE_SITE/MRPL55_ENST00000336300.5_SPLICE_SITE/MRPL55_ENST00000348259.5_SPLICE_SITE/MRPL55_ENST00000366736.1_SPLICE_SITE/MRPL55_ENST00000366739.1_SPLICE_SITE/MRPL55_ENST00000295008.4_SPLICE_SITE/MRPL55_ENST00000366741.1_SPLICE_SITE/MRPL55_ENST00000366747.3_SPLICE_SITE/MRPL55_ENST00000366746.3_SPLICE_SITE/MRPL55_ENST00000366732.1_SPLICE_SITE/MRPL55_ENST00000366738.1_SPLICE_SITE/MRPL55_ENST00000391867.3_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366731.5_SPLICE_SITE/MRPL55_ENST00000430433.1_SPLICE_SITE/C1orf35_ENST00000272139.4_FIVE_PRIME_FLANK/MRPL55_ENST00000465397.1_SPLICE_SITE/C1orf35_ENST00000472617.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC052806|||HGNC:16686|mitochondrial_%20_ribosomal_%20_protein_%20_L55|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q42.13|2015-08-25|||AK056987||128308|ENSG00000162910||XM_059233|646|Mitochondrial_%20_ribosomal_%20_proteins|CCDS1567_%2C__%20_CCDS44325|OTTHUMG00000037965|128308|611859|NM_001321284|Q7Z7F7|ENSG00000162910|uc001hsa.5|RM55_HUMAN||Q5TBY3_%7C_Q5TBY6_%7C_Q6UWI8|Q7Z7F7|translation_%20_(GO:0006412)|mitochondrial_%20_large_%20_ribosomal_%20_subunit_%20_(GO:0005762)|structural_%20_constituent_%20_of_%20_ribosome_%20_(GO:0003735)||||true|true||false|false|||false|false|false|MRPL55:128308|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|868542799|228296020|false|false|0|false|0|false|0.999931_%2C_6.86908e-005|false|false|true|SNV|false|0x050000600005000402000100|1|false|147|rs868542799|] +2 3519739 rs6422709 C A . PASS FUNCOTATION=[ADI1|hg19|chr2|3519739|3519739|INTRON||SNP|C|C|A|g.chr2:3519739C>A|ENST00000327435.6|-|||c.e2+1992G>T|||0.38154613466334164|AAAACTTAGCCTATCCACTGC|ADI1_ENST00000382093.5_DE_NOVO_START_OUT_FRAME/AC142528.1_ENST00000450917.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471053|NM_018269.3|NP_060739.2|HGNC:30576|acireductone_%20_dioxygenase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SIPL_%2C__%20_MTCBP-1_%2C__%20_ARD_%2C__%20_APL1_%2C__%20_FLJ10913_%2C__%20_HMFT1638_%2C__%20_mtnD|"membrane-type_%20_1_%20_matrix_%20_metalloproteinase_%20_cytoplasmic_%20_tail_%20_binding_%20_protein-1"|2p25.3|2016-10-05||||1.13.11.54|55256|ENSG00000182551|14718544_%2C__%20_15938715|NM_018269|||CCDS1653_%2C__%20_CCDS77380|OTTHUMG00000112441|55256|613400|NM_001306077|Q9BV57|ENSG00000182551|uc002qxp.5|||||||||||true|false|0.8101_%2C_0.1899|false|false|1||false|true|true|ADI1:55256|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6422709|3519739|false|false|0|true|0|false|0.805468_%2C_0.194532|false|false|true|SNV|true|0x05010048000517053f000100|1|false|116|rs6422709|] +2 27603003 exm181213 G A . PASS FUNCOTATION=[ZNF513|hg19|chr2|27603003|27603003|SILENT||SNP|G|G|A|g.chr2:27603003G>A|ENST00000323703.6|-|2|367|c.168C>T|c.(166-168)gaC>gaT|p.D56D|0.5461346633416458|CACTGTTGCCGTCGCCTTCCT|ZNF513_ENST00000407879.1_DE_NOVO_START_OUT_FRAME/ZNF513_ENST00000491924.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471053|NM_144631.5|NP_653232.3|HGNC:26498|zinc_%20_finger_%20_protein_%20_513|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32203_%2C__%20_RP58||2p23.3|2015-08-27|||AL833946||130557|ENSG00000163795|20797688|NM_144631|28|Zinc_%20_fingers_%20_C2H2-type|CCDS1751_%2C__%20_CCDS56114|OTTHUMG00000097783|130557|613598|NM_001201459|Q8N8E2|ENSG00000163795|uc002rkk.4|ZN513_HUMAN||A8K3S5_%7C_B7WP71_%7C_Q3ZCU1_%7C_Q68CJ1_%7C_Q86UZ3_%7C_Q8NDL8_%7C_Q96ML3|Q8N8E2|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_response_%20_to_%20_stimulus_%20_(GO:0050896)_%7C_retina_%20_development_%20_in_%20_camera-type_%20_eye_%20_(GO:0060041)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)_%7C_visual_%20_perception_%20_(GO:0007601)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_transcription_%20_regulatory_%20_region_%20_DNA_%20_binding_%20_(GO:0044212)||||true|false|0.9998_%2C_0.0001997_%2C_.|false|false|0||false|false|false|ZNF513:130557|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|144091327|27603003|false|false|0|false|0|true|0.999519_%2C_0.000480835_%2C_.|false|false|true|SNV|true|0x050000420b05040436000100|1|false|134|rs144091327|] +2 36818090 exm186382 T C . PASS FUNCOTATION=[FEZ2|hg19|chr2|36818090|36818090|MISSENSE||SNP|T|T|C|g.chr2:36818090T>C|ENST00000379245.4|-|2|380|c.331A>G|c.(331-333)Act>Gct|p.T111A|0.371571072319202|AAGGTCCTAGTATGCGATGAC|FEZ2_ENST00000405912.3_MISSENSE_p.T111A/FEZ2_ENST00000305852.7_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||22|central_nervous_system(22)|||||||U69140|NM_001042548.1|NP_001036013.1|HGNC:3660|fasciculation_%20_and_%20_elongation_%20_protein_%20_zeta_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||||"zygin_%20_II"|2p22.2|2016-10-05||2016-01-12|U60061||9637|ENSG00000171055|9096408||||CCDS46257_%2C__%20_CCDS46258|OTTHUMG00000152148|9637|604826|NM_001042548|Q9UHY8|ENSG00000171055|uc002rpg.3|FEZ2_HUMAN||Q5EBN3_%7C_Q76LN0_%7C_Q99690|Q9UHY8|axon_%20_guidance_%20_(GO:0007411)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_signal_%20_transduction_%20_(GO:0007165)||||||true|false|0.9992_%2C_0.0007987|false|false|0||false|false|false|FEZ2:9637|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|35730082|36818090|true|false|0|true|0|false|0.999622_%2C_0.000377799|false|false|false|SNV|true|0x050100000a05040536000100|1|false|126|rs35730082|] +2 169926086 rs11889286 C T . PASS FUNCOTATION=[DHRS9|hg19|chr2|169926086|169926086|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr2:169926086C>T|ENST00000357546.2|+|2|||||0.4239401496259352|CAGAGCTCTACGGAAACCCAG|DHRS9_ENST00000428522.1_DE_NOVO_START_OUT_FRAME/DHRS9_ENST00000327239.4_INTRON/DHRS9_ENST00000602501.1_INTRON/DHRS9_ENST00000421653.1_DE_NOVO_START_OUT_FRAME/DHRS9_ENST00000432060.2_INTRON/DHRS9_ENST00000436483.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471058|NM_199204.1|NP_954674.1|HGNC:16888|dehydrogenase/reductase_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dehydrogenase/reductase_%20_(SDR_%20_family)_%20_member_%20_9"|RDHL_%2C__%20_3alpha-HSD_%2C__%20_RETSDR8_%2C__%20_RDH15_%2C__%20_SDR9C4|"NADP-dependent_%20_retinol_%20_dehydrogenase/reductase"_%2C__%20_"3-alpha_%20_hydroxysteroid_%20_dehydrogenase"_%2C__%20_"retinol_%20_dehydrogenase_%20_homolog"_%2C__%20_"short_%20_chain_%20_dehydrogenase/reductase_%20_family_%20_9C_%2C__%20_member_%20_4"|2q31.1|2016-05-27||2016-05-27|AF067174||10170|ENSG00000073737|11304534_%2C__%20_11294878_%2C__%20_19027726|NM_005771|743|Short_%20_chain_%20_dehydrogenase/reductase_%20_superfamily|CCDS2231_%2C__%20_CCDS74600|OTTHUMG00000132180|10170|612131|NM_001142270|Q9BPW9|ENSG00000073737|uc061phg.1|DHRS9_HUMAN||B7Z416_%7C_D3DPC1_%7C_Q5RKX1_%7C_Q9NRA9_%7C_Q9NRB0|Q9BPW9|9-cis-retinoic_%20_acid_%20_biosynthetic_%20_process_%20_(GO:0042904)_%7C_androgen_%20_metabolic_%20_process_%20_(GO:0008209)_%7C_epithelial_%20_cell_%20_differentiation_%20_(GO:0030855)_%7C_progesterone_%20_metabolic_%20_process_%20_(GO:0042448)_%7C_retinol_%20_metabolic_%20_process_%20_(GO:0042572)|integral_%20_component_%20_of_%20_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0030176)|alcohol_%20_dehydrogenase_%20_(NAD)_%20_activity_%20_(GO:0004022)_%7C_racemase_%20_and_%20_epimerase_%20_activity_%20_(GO:0016854)_%7C_retinol_%20_dehydrogenase_%20_activity_%20_(GO:0004745)_%7C_testosterone_%20_dehydrogenase_%20_(NAD+)_%20_activity_%20_(GO:0047035)||||true|false|0.9786_%2C_0.02137|false|false|1||false|true|false|DHRS9:10170|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11889286|169926086|false|false|0|true|0|false|0.971118_%2C_0.0288825|false|false|true|SNV|true|0x05010048000515053f000100|1|false|120|rs11889286|] +2 187487140 indel.64390 A ACCT . PASS FUNCOTATION=[ITGAV|hg19|chr2|187487140|187487141|IN_FRAME_INS||INS|-|-|CCT|g.chr2:187487140_187487141insCCT|ENST00000261023.3|+|3|665|c.391_392insCCT|c.(391-393)aaa>aCCTaa|p.K131T*|0.3675|GTGAGGTCGAAACAGGATAA|ITGAV_ENST00000374907.3_IN_FRAME_INS_p.K131T*/ITGAV_ENST00000433736.2_IN_FRAME_INS_p.K85T*|Melanoma(58_%3B_108_%20_1995_%20_6081)||||||||||||||||||||||||274|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(12)_%7C_lung(2)_%7C_pancreas(22)_%7C_soft_tissue(1)|||||||U07375|NM_002210.4|NP_002201.1|HGNC:6150|integrin_%20_subunit_%20_alpha_%20_V|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|VNRA_%2C__%20_MSK8_%2C__%20_VTNR|"antigen_%20_identified_%20_by_%20_monoclonal_%20_antibody_%20_L230"_%2C__%20_"vitronectin_%20_receptor"_%2C__%20_"integrin_%2C__%20_alpha_%20_V_%20_(vitronectin_%20_receptor_%2C__%20_alpha_%20_polypeptide_%2C__%20_antigen_%20_CD51)"_%2C__%20_"integrin_%2C__%20_alpha_%20_V"|CD51||2q32.1|2016-10-05||2015-12-15|||3685|ENSG00000138448|2454952|NM_002210|1160_%7C_471|Integrin_%20_alpha_%20_subunits_%7C_CD_%20_molecules|CCDS2292_%2C__%20_CCDS46470_%2C__%20_CCDS46471|OTTHUMG00000132635|3685|193210|NM_001144999|P06756|ENSG00000138448|uc002upq.5|ITAV_HUMAN|Antithymocyte_%20_globulin(DB00098)|A0AV67_%7C_B0LPF4_%7C_B7Z883_%7C_B7ZLX0_%7C_D3DPG8_%7C_E7EWZ6_%7C_Q53SK4_%7C_Q59EB7_%7C_Q6LD15|P06756|angiogenesis_%20_(GO:0001525)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_(GO:0042590)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_exogenous_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%2C__%20_TAP-dependent_%20_(GO:0002479)_%7C_antigen_%20_processing_%20_and_%20_presentation_%20_of_%20_peptide_%20_antigen_%20_via_%20_MHC_%20_class_%20_I_%20_(GO:0002474)_%7C_apolipoprotein_%20_A-I-mediated_%20_signaling_%20_pathway_%20_(GO:0038027)_%7C_apoptotic_%20_cell_%20_clearance_%20_(GO:0043277)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_calcium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0070588)_%7C_cell_%20_adhesion_%20_(GO:0007155)_%7C_cell_%20_growth_%20_(GO:0016049)_%7C_cell_%20_migration_%20_(GO:0016477)_%7C_cell-matrix_%20_adhesion_%20_(GO:0007160)_%7C_cell-substrate_%20_adhesion_%20_(GO:0031589)_%7C_endodermal_%20_cell_%20_differentiation_%20_(GO:0035987)_%7C_entry_%20_of_%20_symbiont_%20_into_%20_host_%20_cell_%20_by_%20_promotion_%20_of_%20_host_%20_phagocytosis_%20_(GO:0052066)_%7C_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070371)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_absence_%20_of_%20_ligand_%20_(GO:0097192)_%7C_heterotypic_%20_cell-cell_%20_adhesion_%20_(GO:0034113)_%7C_integrin-mediated_%20_signaling_%20_pathway_%20_(GO:0007229)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_chemotaxis_%20_(GO:0050919)_%7C_negative_%20_regulation_%20_of_%20_entry_%20_of_%20_bacterium_%20_into_%20_host_%20_cell_%20_(GO:2000536)_%7C_negative_%20_regulation_%20_of_%20_extrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001237)_%7C_negative_%20_regulation_%20_of_%20_lipid_%20_storage_%20_(GO:0010888)_%7C_negative_%20_regulation_%20_of_%20_lipid_%20_transport_%20_(GO:0032369)_%7C_negative_%20_regulation_%20_of_%20_lipoprotein_%20_metabolic_%20_process_%20_(GO:0050748)_%7C_negative_%20_regulation_%20_of_%20_low-density_%20_lipoprotein_%20_particle_%20_receptor_%20_biosynthetic_%20_process_%20_(GO:0045715)_%7C_negative_%20_regulation_%20_of_%20_macrophage_%20_derived_%20_foam_%20_cell_%20_differentiation_%20_(GO:0010745)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_adhesion_%20_(GO:0045785)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_migration_%20_(GO:0030335)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_osteoblast_%20_proliferation_%20_(GO:0033690)_%7C_regulation_%20_of_%20_apoptotic_%20_cell_%20_clearance_%20_(GO:2000425)_%7C_regulation_%20_of_%20_phagocytosis_%20_(GO:0050764)_%7C_substrate_%20_adhesion-dependent_%20_cell_%20_spreading_%20_(GO:0034446)_%7C_viral_%20_entry_%20_into_%20_host_%20_cell_%20_(GO:0046718)|alphav-beta3_%20_integrin-IGF-1-IGF1R_%20_complex_%20_(GO:0035867)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_filopodium_%20_membrane_%20_(GO:0031527)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_integrin_%20_alphav-beta3_%20_complex_%20_(GO:0034683)_%7C_integrin_%20_alphav-beta5_%20_complex_%20_(GO:0034684)_%7C_integrin_%20_alphav-beta8_%20_complex_%20_(GO:0034686)_%7C_integrin_%20_complex_%20_(GO:0008305)_%7C_lamellipodium_%20_membrane_%20_(GO:0031258)_%7C_membrane_%20_(GO:0016020)_%7C_microvillus_%20_membrane_%20_(GO:0031528)_%7C_phagocytic_%20_vesicle_%20_(GO:0045335)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_ruffle_%20_membrane_%20_(GO:0032587)|extracellular_%20_matrix_%20_binding_%20_(GO:0050840)_%7C_extracellular_%20_matrix_%20_protein_%20_binding_%20_(GO:1990430)_%7C_fibronectin_%20_binding_%20_(GO:0001968)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_protease_%20_binding_%20_(GO:0002020)_%7C_transforming_%20_growth_%20_factor_%20_beta_%20_binding_%20_(GO:0050431)_%7C_virus_%20_receptor_%20_activity_%20_(GO:0001618)_%7C_voltage-gated_%20_calcium_%20_channel_%20_activity_%20_(GO:0005245)||||true|false||false|false|||false|false|false|ITGAV:3685|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|762770151|187487140|false|false|0|false|0|false||false|false|false|DIV|false|0x050000000005000402000200|1|false|144|rs762770151|] +2 220462640 exm269819 G T . PASS FUNCOTATION=[STK11IP|hg19|chr2|220462640|220462640|DE_NOVO_START_IN_FRAME||SNP|G|G|T|g.chr2:220462640G>T|ENST00000456909.1|+|1|||||0.6209476309226932|CAGACGGGGAGGTTCGGTATG|STK11IP_ENST00000295641.10_MISSENSE_p.R1M/STK11IP_ENST00000459692.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||149|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(70)_%7C_pancreas(22)|||||||AC009955|||HGNC:19184|serine/threonine_%20_kinase_%20_11_%20_interacting_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||LIP1_%2C__%20_KIAA1898_%2C__%20_LKB1IP_%2C__%20_STK11IP1|"LKB1_%20_interacting_%20_protein"|2q35|2014-11-19|||AF450267||114790|ENSG00000144589|11741830|NM_052902|||CCDS46521|OTTHUMG00000059239|114790|607172|NM_052902|Q8N1F8|ENSG00000144589|uc002vml.3|S11IP_HUMAN||Q8NAW9_%7C_Q8WXE4_%7C_Q96CN3_%7C_Q96PY9|Q8N1F8|protein_%20_localization_%20_(GO:0008104)|cytoplasm_%20_(GO:0005737)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_lysosomal_%20_membrane_%20_(GO:0005765)|protein_%20_kinase_%20_binding_%20_(GO:0019901)||||true|false|0.1667_%2C_0.8333|false|false|1||false|true|false|STK11IP:114790|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|681747|220462640|false|false|0|true|0|false|0.236589_%2C_0.763411|false|false|true|SNV|true|0x05010040000515053f000101|1|false|83|rs681747|] +2 238667455 indel.66367 G GTAA . PASS FUNCOTATION=[LRRFIP1|hg19|chr2|238667455|238667456|IN_FRAME_INS||INS|-|-|TAA|g.chr2:238667455_238667456insTAA|ENST00000308482.9|+|18|1377|c.1308_1309insTAA|c.(1309-1311)gaa>TAAgaa|p.436_437ins*|0.3775|GCTGAAAGAGGAATTAAAGG|LRRFIP1_ENST00000244815.5_INTRON/LRRFIP1_ENST00000289175.6_INTRON/LRRFIP1_ENST00000392000.4_INTRON|||||||||||||||||||||||||253|biliary_tract(2)_%7C_breast(148)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||U69609|NM_001137550.1|NP_001131022.1|HGNC:6702|LRR_%20_binding_%20_FLII_%20_interacting_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"leucine_%20_rich_%20_repeat_%20_(in_%20_FLII)_%20_interacting_%20_protein_%20_1"|FLAP-1_%2C__%20_FLIIAP1_%2C__%20_TRIP_%2C__%20_GCF-2_%2C__%20_HUFI-1|"GC-binding_%20_factor_%20_2"|2q37.3|2016-06-20||2016-06-20|AJ223075||9208|ENSG00000124831|9705290_%2C__%20_9525888_%2C__%20_16199883|NM_004735|||CCDS2521_%2C__%20_CCDS46551_%2C__%20_CCDS46552_%2C__%20_CCDS46553|OTTHUMG00000133339|9208|603256|NM_001137550|Q32MZ4|ENSG00000124831|uc002vxd.4|LRRF1_HUMAN||E9PGZ2_%7C_O75766_%7C_O75799_%7C_Q32MZ5_%7C_Q53T49_%7C_Q6PKG2_%7C_Q9Y607|Q32MZ4|innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_positive_%20_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032481)_%7C_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006357)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|DNA_%20_binding_%20_(GO:0003677)_%7C_double-stranded_%20_RNA_%20_binding_%20_(GO:0003725)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)||||true|false||false|false|||false|false|false|LRRFIP1:9208|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|752147133|238667455|false|false|0|false|0|false||false|false|false|DIV|false|0x050000080005000402000200|1|false|144|rs752147133|] +3 57743569 exm325975 C T . PASS FUNCOTATION=[SLMAP|hg19|chr3|57743569|57743569|MISSENSE||SNP|C|C|T|g.chr3:57743569C>T|ENST00000295951.3|+|2|1408|c.191C>T|c.(190-192)aCg>aTg|p.T64M|0.5112219451371571|GATCACAAGACGGGCAAGGTA|SLMAP_ENST00000383718.3_MISSENSE_p.T64M/SLMAP_ENST00000428312.1_MISSENSE_p.T64M/SLMAP_ENST00000449503.2_MISSENSE_p.T64M/SLMAP_ENST00000295952.3_MISSENSE_p.T64M/SLMAP_ENST00000416870.1_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR627321|||HGNC:16643|sarcolemma_%20_associated_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SLAP_%2C__%20_KIAA1601|"Sarcolemmal-associated_%20_protein"|3p14.3|2016-10-05|||AF100750||7871|ENSG00000163681|9405447_%2C__%20_11042152|NM_007159|1371|STRIPAK_%20_complex|CCDS33774_%2C__%20_CCDS77757_%2C__%20_CCDS77758_%2C__%20_CCDS77759|OTTHUMG00000133764|7871|602701|NM_001304420|Q14BN4|ENSG00000163681|uc062kya.1|SLMAP_HUMAN||Q14C95_%7C_Q6AI54_%7C_Q6UXC9_%7C_Q6ZVQ8_%7C_Q8NCW9_%7C_Q9H297_%7C_Q9HCH1_%7C_Q9Y681|Q14BN4|muscle_%20_contraction_%20_(GO:0006936)|cytoskeleton_%20_(GO:0005856)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_smooth_%20_endoplasmic_%20_reticulum_%20_(GO:0005790)|||||true|false||false|false|||false|false|false|SLMAP:7871|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149291683|57743569|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs149291683|] +3 178936088 . A AGGT . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936088|178936089|IN_FRAME_INS||INS|-|-|GGT|g.chr3:178936088_178936089insGGT|ENST00000263967.3|+|10|1787|c.1630_1631insGGT|c.(1630-1632)act>aGGTct|p.T544RS|0.3|TCTGAAATCACTGAGCAGGA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis||||||||||||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936088 . A AGGTGCT . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936088|178936089|IN_FRAME_INS||INS|-|-|GGTGCT|g.chr3:178936088_178936089insGGTGCT|ENST00000263967.3|+|10|1787|c.1630_1631insGGTGCT|c.(1630-1632)act>aGGTGCTct|p.T544RCS|0.3|TCTGAAATCACTGAGCAGGA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis||||||||||||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936089 . C CG . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936089|178936090|FRAME_SHIFT_INS||INS|-|-|G|g.chr3:178936089_178936090insG|ENST00000263967.3|+|10|1788|c.1631_1632insG|c.(1630-1632)actfs|p.E545fs|0.3|CTGAAATCACTGAGCAGGAG||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936089 . C CGT . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936089|178936090|FRAME_SHIFT_INS||INS|-|-|GT|g.chr3:178936089_178936090insGT|ENST00000263967.3|+|10|1788|c.1631_1632insGT|c.(1630-1632)actfs|p.E545fs|0.3|CTGAAATCACTGAGCAGGAG||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936089 . C CGTC . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936089|178936090|IN_FRAME_INS||INS|-|-|GTC|g.chr3:178936089_178936090insGTC|ENST00000263967.3|+|10|1788|c.1631_1632insGTC|c.(1630-1632)act>acGTCt|p.544_545insS|0.3|CTGAAATCACTGAGCAGGAG||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis||||||||||||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936089 . C CGTCG . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936089|178936090|FRAME_SHIFT_INS||INS|-|-|GTCG|g.chr3:178936089_178936090insGTCG|ENST00000263967.3|+|10|1788|c.1631_1632insGTCG|c.(1630-1632)actfs|p.E545fs|0.3|CTGAAATCACTGAGCAGGAG||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936089 . CT C . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936090|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr3:178936090delT|ENST00000263967.3|+|10|1788|c.1632delT|c.(1630-1632)actfs|p.E545fs|0.29925187032418954|CTGAAATCACTGAGCAGGAGA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936089 . CTG C . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936091|FRAME_SHIFT_DEL||DEL|TG|TG|-|g.chr3:178936090_178936091delTG|ENST00000263967.3|+|10|1788_1789|c.1632_1633delTG|c.(1630-1635)actgagfs|p.E545fs|0.29850746268656714|CTGAAATCACTGAGCAGGAGAA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936089 . CTGA C . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936092|IN_FRAME_DEL||DEL|TGA|TGA|-|g.chr3:178936090_178936092delTGA|ENST00000263967.3|+|10|1788_1790|c.1632_1634delTGA|c.(1630-1635)actgag>acg|p.E545del|0.2977667493796526|CTGAAATCACTGAGCAGGAGAAA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936089 . CTGAG C . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936093|FRAME_SHIFT_DEL||DEL|TGAG|TGAG|-|g.chr3:178936090_178936093delTGAG|ENST00000263967.3|+|10|1788_1791|c.1632_1635delTGAG|c.(1630-1635)actgagfs|p.E545fs|0.2995049504950495|CTGAAATCACTGAGCAGGAGAAAG||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936089 . CTGAGCA C . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936095|IN_FRAME_DEL||DEL|TGAGCA|TGAGCA|-|g.chr3:178936090_178936095delTGAGCA|ENST00000263967.3|+|10|1788_1793|c.1632_1637delTGAGCA|c.(1630-1638)actgagcag>acg|p.EQ545del|0.29802955665024633|CTGAAATCACTGAGCAGGAGAAAGAT||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(1)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936089 . CTGAGCAGGA C . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936098|IN_FRAME_DEL||DEL|TGAGCAGGA|TGAGCAGGA|-|g.chr3:178936090_178936098delTGAGCAGGA|ENST00000263967.3|+|10|1788_1796|c.1632_1640delTGAGCAGGA|c.(1630-1641)actgagcaggag>acg|p.EQE545del|0.29584352078239606|CTGAAATCACTGAGCAGGAGAAAGATTTT||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(1)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936089 . CTGAGC CGTCCA . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936089|178936094|MISSENSE||ONP|CTGAGC|CTGAGC|CGTCCA|g.chr3:178936089_178936094CTGAGC>CGTCCA|ENST00000263967.3|+|10|1788_1793|c.1631_1636CTGAGC>CGTCCA|c.(1630-1638)acTGAGCag>acGTCCAag|p.545_546EQ>SK|0.29802955665024633|TCTGAAATCACTGAGCAGGAGAAAGA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(1)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936090 . T TA . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936091|FRAME_SHIFT_INS||INS|-|-|A|g.chr3:178936090_178936091insA|ENST00000263967.3|+|10|1789|c.1632_1633insA|c.(1633-1635)gagfs|p.E545fs|0.3|TGAAATCACTGAGCAGGAGA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936090 . T TAT . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936091|FRAME_SHIFT_INS||INS|-|-|AT|g.chr3:178936090_178936091insAT|ENST00000263967.3|+|10|1789|c.1632_1633insAT|c.(1633-1635)gagfs|p.E545fs|0.3|TGAAATCACTGAGCAGGAGA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936090 . T TATT . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936091|IN_FRAME_INS||INS|-|-|ATT|g.chr3:178936090_178936091insATT|ENST00000263967.3|+|10|1789|c.1632_1633insATT|c.(1633-1635)gag>ATTgag|p.544_545insI|0.3|TGAAATCACTGAGCAGGAGA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis||||||||||||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936090 . T TATTG . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936091|FRAME_SHIFT_INS||INS|-|-|ATTG|g.chr3:178936090_178936091insATTG|ENST00000263967.3|+|10|1789|c.1632_1633insATTG|c.(1633-1635)gagfs|p.E545fs|0.3|TGAAATCACTGAGCAGGAGA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936090 . TG T . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936091|178936091|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr3:178936091delG|ENST00000263967.3|+|10|1789|c.1633delG|c.(1633-1635)gagfs|p.E545fs|0.29925187032418954|TGAAATCACTGAGCAGGAGAA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936090 . TGA T . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936091|178936092|FRAME_SHIFT_DEL||DEL|GA|GA|-|g.chr3:178936091_178936092delGA|ENST00000263967.3|+|10|1789_1790|c.1633_1634delGA|c.(1633-1635)gagfs|p.E545fs|0.29850746268656714|TGAAATCACTGAGCAGGAGAAA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936090 . TGAG T . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936091|178936093|IN_FRAME_DEL||DEL|GAG|GAG|-|g.chr3:178936091_178936093delGAG|ENST00000263967.3|+|10|1789_1791|c.1633_1635delGAG|c.(1633-1635)gagdel|p.E545del|0.3002481389578164|TGAAATCACTGAGCAGGAGAAAG||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936090 . TGAGC T . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936091|178936094|FRAME_SHIFT_DEL||DEL|GAGC|GAGC|-|g.chr3:178936091_178936094delGAGC|ENST00000263967.3|+|10|1789_1792|c.1633_1636delGAGC|c.(1633-1638)gagcagfs|p.E545fs|0.2995049504950495|TGAAATCACTGAGCAGGAGAAAGA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(2)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936090 . TGAGCAG T . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936091|178936096|IN_FRAME_DEL||DEL|GAGCAG|GAGCAG|-|g.chr3:178936091_178936096delGAGCAG|ENST00000263967.3|+|10|1789_1794|c.1633_1638delGAGCAG|c.(1633-1638)gagcagdel|p.EQ545del|0.29802955665024633|TGAAATCACTGAGCAGGAGAAAGATT||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis|||||||||p.E545K(1)|||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936090 . T TGAG . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936091|IN_FRAME_INS||INS|-|-|GAG|g.chr3:178936090_178936091insGAG|ENST00000263967.3|+|10|1789|c.1632_1633insGAG|c.(1633-1635)gag>GAGgag|p.544_545insE|0.3|TGAAATCACTGAGCAGGAGA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis||||||||||||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +3 178936090 . T TGAGC . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936091|FRAME_SHIFT_INS||INS|-|-|GAGC|g.chr3:178936090_178936091insGAGC|ENST00000263967.3|+|10|1789|c.1632_1633insGAGC|c.(1633-1635)gagfs|p.Q546fs|0.3|TGAAATCACTGAGCAGGAGA||Colon(199_%3B_1504_%20_1750_%20_3362_%20_26421_%20_31210_%20_32040)|"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"|5290|3|3q26.3|yes||"colorectal_%2C__%20_gastric_%2C__%20_gliobastoma_%2C__%20_breast"|||"E_%2C__%20_O"|Dom|Mis||||||||||||77486|NS(1429)_%7C_adrenal_gland(211)_%7C_autonomic_ganglia(361)_%7C_biliary_tract(648)_%7C_bone(530)_%7C_breast(14681)_%7C_central_nervous_system(1882)_%7C_cervix(1348)_%7C_endometrium(3483)_%7C_eye(195)_%7C_fallopian_tube(2)_%7C_gastrointestinal_tract_(site_indeterminate)(957)_%7C_haematopoietic_and_lymphoid_tissue(2420)_%7C_kidney(480)_%7C_large_intestine(15795)_%7C_liver(980)_%7C_lung(11211)_%7C_meninges(153)_%7C_oesophagus(1461)_%7C_ovary(3199)_%7C_pancreas(1459)_%7C_parathyroid(15)_%7C_penis(28)_%7C_perineum(1)_%7C_peritoneum(148)_%7C_pituitary(407)_%7C_pleura(96)_%7C_prostate(508)_%7C_salivary_gland(490)_%7C_skin(2641)_%7C_small_intestine(113)_%7C_soft_tissue(1826)_%7C_stomach(2067)_%7C_testis(18)_%7C_thymus(191)_%7C_thyroid(2344)_%7C_upper_aerodigestive_tract(2212)_%7C_urinary_tract(1342)_%7C_vagina(1)_%7C_vulva(153)|||||||Z29090|NM_006218.2|NP_006209.2|HGNC:8975|phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_catalytic_%20_subunit_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phosphoinositide-3-kinase_%2C__%20_catalytic_%2C__%20_alpha_%20_polypeptide"_%2C__%20_"phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%2C__%20_catalytic_%20_subunit_%20_alpha"|PI3K||3q26.32|2017-03-24||2015-11-17||2.7.1.153|5290|ENSG00000121879|1322797||831|Phosphatidylinositol_%20_3-kinase_%20_subunits|CCDS43171|OTTHUMG00000157311|5290|171834|NM_006218|P42336|ENSG00000121879|uc003fjk.4|PK3CA_HUMAN|Caffeine(DB00201)|Q14CW1_%7C_Q99762|P42336|angiogenesis_%20_(GO:0001525)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cardiac_%20_muscle_%20_contraction_%20_(GO:0060048)_%7C_endothelial_%20_cell_%20_migration_%20_(GO:0043542)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_hypomethylation_%20_of_%20_CpG_%20_island_%20_(GO:0044029)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_via_%20_phosphatidylinositol_%20_3-kinase_%20_(GO:0038028)_%7C_leukocyte_%20_migration_%20_(GO:0050900)_%7C_negative_%20_regulation_%20_of_%20_anoikis_%20_(GO:2000811)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_apoptotic_%20_process_%20_(GO:2000270)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043524)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_phosphatidylinositol_%20_phosphorylation_%20_(GO:0046854)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0043491)_%7C_regulation_%20_of_%20_genetic_%20_imprinting_%20_(GO:2000653)_%7C_regulation_%20_of_%20_multicellular_%20_organism_%20_growth_%20_(GO:0040014)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_T_%20_cell_%20_costimulation_%20_(GO:0031295)_%7C_T_%20_cell_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0050852)_%7C_vasculature_%20_development_%20_(GO:0001944)|1-phosphatidylinositol-4-phosphate_%20_3-kinase_%2C__%20_class_%20_IA_%20_complex_%20_(GO:0005943)_%7C_cytosol_%20_(GO:0005829)_%7C_lamellipodium_%20_(GO:0030027)_%7C_phosphatidylinositol_%20_3-kinase_%20_complex_%20_(GO:0005942)_%7C_plasma_%20_membrane_%20_(GO:0005886)|1-phosphatidylinositol-3-kinase_%20_activity_%20_(GO:0016303)_%7C_1-phosphatidylinositol-4-phosphate_%20_3-kinase_%20_activity_%20_(GO:0035005)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_phosphatidylinositol_%20_3-kinase_%20_activity_%20_(GO:0035004)_%7C_phosphatidylinositol-4_%2C_5-bisphosphate_%20_3-kinase_%20_activity_%20_(GO:0046934)_%7C_protein_%20_kinase_%20_activator_%20_activity_%20_(GO:0030295)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +4 82126215 var_4_82126215 C A . PASS FUNCOTATION=[PRKG2|hg19|chr4|82126215|82126215|SPLICE_SITE|INTRON|SNP|C|C|A|g.chr4:82126215C>A|ENST00000395578.1|-|||c.e2+1G>T|c.e2-1||0.4513715710723192|GCTCAGGGACCTGAGAAGGCA|PRKG2_ENST00000264399.1_DE_NOVO_START_IN_FRAME/PRKG2_ENST00000418486.2_SPLICE_SITE|||||||||||||||||||||||||804|biliary_tract(2)_%7C_breast(27)_%7C_central_nervous_system(60)_%7C_haematopoietic_and_lymphoid_tissue(54)_%7C_kidney(46)_%7C_large_intestine(234)_%7C_lung(240)_%7C_ovary(52)_%7C_pancreas(22)_%7C_stomach(54)_%7C_testis(13)|||||||Y16123|||HGNC:9416|protein_%20_kinase_%2C__%20_cGMP-dependent_%2C__%20_type_%20_II|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||cGKII_%2C__%20_PRKGR2||4q21.21|2016-10-05|||X94612|2.7.11.1|5593|ENSG00000138669|7498513|NM_006259|||CCDS3589_%2C__%20_CCDS75150_%2C__%20_CCDS64005|OTTHUMG00000130296|5593|601591|NM_001282480|Q13237|ENSG00000138669|uc003hmh.3|KGP2_HUMAN||B4DMX3_%7C_E7EPE6_%7C_O00125_%7C_O60916|Q13237|blood_%20_coagulation_%20_(GO:0007596)_%7C_circadian_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0032922)_%7C_nitric_%20_oxide_%20_metabolic_%20_process_%20_(GO:0046209)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_nitric-oxide_%20_synthase_%20_activity_%20_(GO:0050999)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ATP_%20_binding_%20_(GO:0005524)_%7C_cGMP_%20_binding_%20_(GO:0030553)_%7C_cGMP-dependent_%20_protein_%20_kinase_%20_activity_%20_(GO:0004692)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)||||true|true||false|false|||false|false|false|PRKG2:5593|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|866277244|82126215|false|false|0|false|0|false||false|false|false|SNV|false|0x050000200005000402000100|1|false|147|rs866277244|] +4 87028376 exm411105 G A . PASS FUNCOTATION=[MAPK10|hg19|chr4|87028376|87028376|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr4:87028376G>A|ENST00000395169.3|-|5|973|c.252C>T|c.(250-252)aaC>aaT|p.N84N|0.39900249376558605|CAAAACTCACGTTTTTATGGT|MAPK10_ENST00000395166.1_SPLICE_SITE_p.N84N/MAPK10_ENST00000395160.3_DE_NOVO_START_IN_FRAME/MAPK10_ENST00000395157.3_DE_NOVO_START_IN_FRAME/MAPK10_ENST00000359221.3_SPLICE_SITE_p.N122N/MAPK10_ENST00000361569.2_SPLICE_SITE_p.N122N/MAPK10_ENST00000395161.2_SPLICE_SITE_p.N122N/MAPK10_ENST00000449047.2_DE_NOVO_START_IN_FRAME/MAPK10_ENST00000513839.1_SPLICE_SITE|||||||||||||||||||||||||1134|biliary_tract(2)_%7C_breast(237)_%7C_central_nervous_system(60)_%7C_haematopoietic_and_lymphoid_tissue(54)_%7C_kidney(46)_%7C_large_intestine(71)_%7C_lung(374)_%7C_ovary(110)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_stomach(54)_%7C_testis(13)_%7C_upper_aerodigestive_tract(1)|||||||U34820|NM_138982.2|NP_620448.1|HGNC:6872|mitogen-activated_%20_protein_%20_kinase_%20_10|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PRKM10||JNK3_%2C__%20_p493F12_%2C__%20_p54bSAPK||4q21.3|2016-10-05|||U07620|2.7.11.1|5602|ENSG00000109339|8654373_%2C__%20_12436199||651|Mitogen-activated_%20_protein_%20_kinases|CCDS3612_%2C__%20_CCDS34026_%2C__%20_CCDS43247_%2C__%20_CCDS82937|OTTHUMG00000130604|5602|602897|NM_001318067|P53779|ENSG00000109339|uc003hpr.4|MK10_HUMAN||A6NFS3_%7C_A6NG28_%7C_B3KQ94_%7C_Q15707_%7C_Q49AP1|P53779|activation_%20_of_%20_MAPK_%20_activity_%20_(GO:0000187)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_JNK_%20_cascade_%20_(GO:0007254)_%7C_JUN_%20_phosphorylation_%20_(GO:0007258)_%7C_MyD88-dependent_%20_toll-like_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0002755)_%7C_MyD88-independent_%20_toll-like_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0002756)_%7C_regulation_%20_of_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0051090)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_stress-activated_%20_MAPK_%20_cascade_%20_(GO:0051403)_%7C_toll-like_%20_receptor_%20_10_%20_signaling_%20_pathway_%20_(GO:0034166)_%7C_toll-like_%20_receptor_%20_2_%20_signaling_%20_pathway_%20_(GO:0034134)_%7C_toll-like_%20_receptor_%20_3_%20_signaling_%20_pathway_%20_(GO:0034138)_%7C_toll-like_%20_receptor_%20_4_%20_signaling_%20_pathway_%20_(GO:0034142)_%7C_toll-like_%20_receptor_%20_5_%20_signaling_%20_pathway_%20_(GO:0034146)_%7C_toll-like_%20_receptor_%20_9_%20_signaling_%20_pathway_%20_(GO:0034162)_%7C_toll-like_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0002224)_%7C_toll-like_%20_receptor_%20_TLR1:TLR2_%20_signaling_%20_pathway_%20_(GO:0038123)_%7C_toll-like_%20_receptor_%20_TLR6:TLR2_%20_signaling_%20_pathway_%20_(GO:0038124)_%7C_TRIF-dependent_%20_toll-like_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0035666)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ATP_%20_binding_%20_(GO:0005524)_%7C_JUN_%20_kinase_%20_activity_%20_(GO:0004705)_%7C_MAP_%20_kinase_%20_kinase_%20_activity_%20_(GO:0004708)||||true|false||false|false|||false|false|false|MAPK10:5602|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|200989776|87028376|false|true|0|false|0|true|0.999966_%2C_3.4343e-005|false|false|true|SNV|true|0x050200400305040402000100|1|false|137|rs200989776|] +5 1882759 . C CAT . PASS FUNCOTATION=[IRX4|hg19|chr5|1882759|1882760|START_CODON_INS||INS|-|-|AT|g.chr5:1882759_1882760insAT|ENST00000505790.1|-|2|460|c.2_3insAT|||0.72|CGGGTAGGACATGGCGGGCG|IRX4_ENST00000231357.2_START_CODON_INS_/IRX4_ENST00000513692.1_START_CODON_INS_/IRX4_ENST00000505938.1_FIVE_PRIME_FLANK/CTD-2194D22.3_ENST00000506335.1_FIVE_PRIME_FLANK/CTD-2194D22.4_ENST00000514569.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U90306|NM_001278634.1|NP_001265563.1|HGNC:6129|iroquois_%20_homeobox_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"iroquois_%20_homeobox_%20_protein_%20_4"|||5p15.33|2014-11-19||2007-07-13|AF124733||50805|ENSG00000113430|10625552|NM_016358|526|TALE_%20_class_%20_homeoboxes_%20_and_%20_pseudogenes|CCDS3867_%2C__%20_CCDS75225|OTTHUMG00000090411|50805|606199|NM_001278632|P78413|ENSG00000113430|uc031sir.2|IRX4_HUMAN||B2RMW5_%7C_D3DTC5_%7C_H1AFL0_%7C_H1AFL1_%7C_Q2NL64_%7C_Q9UHR2|P78413|establishment_%20_of_%20_organ_%20_orientation_%20_(GO:0048561)_%7C_heart_%20_development_%20_(GO:0007507)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)|nucleus_%20_(GO:0005634)|sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +6 88255394 var_6_88255394 CTTT C . PASS FUNCOTATION=[RARS2|hg19|chr6|88255395|88255397|IN_FRAME_DEL||DEL|TTT|TTT|-|g.chr6:88255395_88255397delTTT|ENST00000369536.5|-|7|521_523|c.472_474delAAA|c.(472-474)aaadel|p.K158del|0.2903225806451613|CTAAAGCTTCTTTGAGATTTGCT||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471051|NM_020320.3|NP_064716.2|HGNC:21406|arginyl-tRNA_%20_synthetase_%20_2_%2C__%20_mitochondrial|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|RARSL|"arginyl-tRNA_%20_synthetase-like"|MGC14993_%2C__%20_MGC23778_%2C__%20_PRO1992_%2C__%20_dJ382I10.6_%2C__%20_DALRD2|"arginine_%20_tRNA_%20_ligase_%20_2_%2C__%20_mitochondrial_%20_(putative)"|6q15|2016-10-05|2007-02-23|2007-09-27|AK093934|6.1.1.19|57038|ENSG00000146282|17847012|NM_020320|131|Aminoacyl_%20_tRNA_%20_synthetases_%2C__%20_Class_%20_I|CCDS5011|OTTHUMG00000015178|57038|611524|NM_001318785|Q5T160|ENSG00000146282|uc003pme.4|SYRM_HUMAN||B2RDT7_%7C_Q96FU5_%7C_Q9H8K8|Q5T160|arginyl-tRNA_%20_aminoacylation_%20_(GO:0006420)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_tRNA_%20_aminoacylation_%20_for_%20_protein_%20_translation_%20_(GO:0006418)|mitochondrial_%20_matrix_%20_(GO:0005759)|arginine-tRNA_%20_ligase_%20_activity_%20_(GO:0004814)_%7C_ATP_%20_binding_%20_(GO:0005524)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||true|false||false|false|||false|false|false|RARS2:57038|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|757743894|88255395|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|DIV|true|0x050000000005040402000200|1|false|144|rs757743894|] +10 120795681 indel.14858 TCTCGGTCTCTTG T . PASS FUNCOTATION=[EIF3A|hg19|chr10|120795682|120795693|IN_FRAME_DEL||DEL|CTCGGTCTCTTG|CTCGGTCTCTTG|-|g.chr10:120795682_120795693delCTCGGTCTCTTG|ENST00000369144.3|-|22|4147_4158|c.4007_4018delCAAGAGACCGAG|c.(4006-4020)tcaagagaccgagaa>taa|p.1336_1340SRDRE>*|0.3859223300970874|CGGTCTCTTTCTCGGTCTCTTGAAAGAGCTGG|EIF3A_ENST00000541549.1_IN_FRAME_DEL_p.1302_1306SRDRE>*|||||||||||||||||||||||||185|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||U78311|NM_003750.2|NP_003741.1|HGNC:3271|eukaryotic_%20_translation_%20_initiation_%20_factor_%20_3_%20_subunit_%20_A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|EIF3_%2C__%20_EIF3S10|"eukaryotic_%20_translation_%20_initiation_%20_factor_%20_3_%2C__%20_subunit_%20_10_%20_theta_%2C__%20_150/170kDa"_%2C__%20_"eukaryotic_%20_translation_%20_initiation_%20_factor_%20_3_%2C__%20_subunit_%20_A"|eIF3-theta_%2C__%20_eIF3-p170_%2C__%20_KIAA0139_%2C__%20_eIF3a_%2C__%20_TIF32||10q26.11|2015-12-04|2007-07-27|2015-12-04|U78311||8661|ENSG00000107581|9054404_%2C__%20_8590280|NM_003750|1121|Eukaryotic_%20_translation_%20_initiation_%20_factor_%20_3|CCDS7608|OTTHUMG00000019144|8661|602039|NM_003750|Q14152|ENSG00000107581|uc001ldu.4|IF6_HUMAN||B7ZBG9_%7C_Q6IBN8_%7C_Q96TD5|P56537|mature_%20_ribosome_%20_assembly_%20_(GO:0042256)_%7C_ribosomal_%20_large_%20_subunit_%20_biogenesis_%20_(GO:0042273)_%7C_ribosomal_%20_subunit_%20_export_%20_from_%20_nucleus_%20_(GO:0000054)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_lamin_%20_filament_%20_(GO:0005638)_%7C_nucleus_%20_(GO:0005634)|ribosomal_%20_large_%20_subunit_%20_binding_%20_(GO:0043023)_%7C_ribosome_%20_binding_%20_(GO:0043022)_%7C_translation_%20_initiation_%20_factor_%20_activity_%20_(GO:0003743)||||true|false||false|false|||false|false|false|EIF3A:8661|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|766037789|120795682|false|false|0|false|0|false||false|false|false|DIV|false|0x050000000005000402000200|1|false|144|rs766037789|] +12 11243923 indel.23289 TTTCACC T . PASS FUNCOTATION=[TAS2R43|hg19|chr12|11243924|11243929|IN_FRAME_DEL||DEL|TTCACC|TTCACC|-|g.chr12:11243924_11243929delTTCACC|ENST00000531678.1|-|1|990_995|c.900_905delGGTGAA|c.(898-906)tgggtgaaa>tga|p.300_302WVK>*|0.35714285714285715|CTTCTCTCCTTTCACCCAGTACCTCA|TAS2R14_ENST00000381852.4_INTRON/PRR4_ENST00000536668.1_INTRON|||||||||||||||||||||||||1|haematopoietic_and_lymphoid_tissue(1)|||||||BC117423|NM_176884.2|NP_795365.2|HGNC:18875|taste_%20_2_%20_receptor_%20_member_%20_43|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"taste_%20_receptor_%2C__%20_type_%20_2_%2C__%20_member_%20_43"|T2R52||12p13.2|2015-12-16||2015-12-16|AF494237||259289||12379855|NM_176884|1162|Taste_%20_2_%20_receptors|CCDS53749||259289|612668|NM_176884|P59537|ENSG00000255374|uc001qzq.1|T2R43_HUMAN||P59546_%7C_Q645X4|P59537|detection_%20_of_%20_chemical_%20_stimulus_%20_involved_%20_in_%20_sensory_%20_perception_%20_of_%20_bitter_%20_taste_%20_(GO:0001580)_%7C_G-protein_%20_coupled_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007186)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_motile_%20_cilium_%20_(GO:0031514)_%7C_plasma_%20_membrane_%20_(GO:0005886)|bitter_%20_taste_%20_receptor_%20_activity_%20_(GO:0033038)_%7C_taste_%20_receptor_%20_activity_%20_(GO:0008527)||||true|false||false|false|||false|false|false|PRH1-TAS2R14:106707243_%7C_TAS2R43:259289_%7C_PRH1:5554_%7C_PRH1-PRR4:100533464|false|true|true|false|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|867813065|11243924|false|false|0|false|0|false||false|false|false|DIV|false|0x050000080005000402000210|1|false|147|rs867813065|] +12 55820040 indel.25160 GA G . PASS FUNCOTATION=[OR6C76|hg19|chr12|55820041|55820041|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr12:55820041delA|ENST00000328314.3|+|1|3|c.4delA|c.(4-6)aaafs|p.N3fs|0.341645885286783|ATCAGAAATGAAAAATAGAAC||||||||||||||||||||||||||68|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AC125816|NM_001005183.1|NP_001005183.1|HGNC:31305|olfactory_%20_receptor_%20_family_%20_6_%20_subfamily_%20_C_%20_member_%20_76|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"olfactory_%20_receptor_%2C__%20_family_%20_6_%2C__%20_subfamily_%20_C_%2C__%20_member_%20_76"|||12q13.2|2015-12-09||2015-12-09|||390326|ENSG00000185821||NM_001005183|153|Olfactory_%20_receptors_%2C__%20_family_%20_6|CCDS31823|OTTHUMG00000169956|390326||NM_001005183|A6NM76|ENSG00000185821|uc010spm.2|O6C76_HUMAN|||A6NM76||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||true|false||false|false|||false|false|false|OR6C76:390326|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|768848732|55820041|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs768848732|] +13 60738150 . C A . PASS FUNCOTATION=[DIAPH3|hg19|chr13|60738150|60738150|FIVE_PRIME_FLANK||SNP|C|C|A|g.chr13:60738150C>A|ENST00000267215.4|-||||||0.6234413965087282|CCCTTCCGGGCACTGCGAAAC|DIAPH3_ENST00000377908.2_FIVE_PRIME_FLANK/DIAPH3_ENST00000400319.1_FIVE_PRIME_FLANK/DIAPH3_ENST00000400320.1_FIVE_PRIME_FLANK/DIAPH3_ENST00000400324.4_FIVE_PRIME_FLANK/DIAPH3_ENST00000400330.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||95|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_oesophagus(4)_%7C_pancreas(22)|||||||BX649186|NM_030932.3|NP_112194.2|HGNC:15480|diaphanous_%20_related_%20_formin_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AUNA1|"diaphanous_%20_(Drosophila_%2C__%20_homolog)_%20_3"_%2C__%20_"auditory_%20_neuropathy_%2C__%20_autosomal_%20_dominant_%20_1"_%2C__%20_"diaphanous_%20_homolog_%20_3_%20_(Drosophila)"|DRF3_%2C__%20_FLJ34705_%2C__%20_AN_%2C__%20_NSDAN||13q21.2|2015-11-18||2015-11-18|AL137718||81624|ENSG00000139734|14767582_%2C__%20_20624953|NM_001042517|||CCDS41898_%2C__%20_CCDS58294_%2C__%20_CCDS58295_%2C__%20_CCDS58296_%2C__%20_CCDS58297_%2C__%20_CCDS73579_%2C__%20_CCDS73580|OTTHUMG00000017004|81624|614567|NM_001042517|Q9NSV4|ENSG00000139734|uc001vht.6|DIAP3_HUMAN||A2A3B8_%7C_A2A3B9_%7C_A2A3C0_%7C_Q18P99_%7C_Q18PA0_%7C_Q18PA1_%7C_Q2KPB6_%7C_Q3ZK23_%7C_Q5JTP8_%7C_Q5T2S7_%7C_Q5XKF6_%7C_Q6MZF0_%7C_Q6NUP0_%7C_Q86VS4_%7C_Q8NAV4|Q9NSV4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_spermatogenesis_%20_(GO:0007283)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +13 60738150 . CAC C . PASS FUNCOTATION=[DIAPH3|hg19|chr13|60738151|60738152|FIVE_PRIME_FLANK||DEL|AC|AC|-|g.chr13:60738151_60738152delAC|ENST00000267215.4|-||||||0.6218905472636815|CCTTCCGGGCACTGCGAAACAT|DIAPH3_ENST00000377908.2_FIVE_PRIME_FLANK/DIAPH3_ENST00000400319.1_FIVE_PRIME_FLANK/DIAPH3_ENST00000400320.1_FIVE_PRIME_FLANK/DIAPH3_ENST00000400324.4_FIVE_PRIME_FLANK/DIAPH3_ENST00000400330.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||95|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_oesophagus(4)_%7C_pancreas(22)|||||||BX649186|NM_030932.3|NP_112194.2|HGNC:15480|diaphanous_%20_related_%20_formin_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AUNA1|"diaphanous_%20_(Drosophila_%2C__%20_homolog)_%20_3"_%2C__%20_"auditory_%20_neuropathy_%2C__%20_autosomal_%20_dominant_%20_1"_%2C__%20_"diaphanous_%20_homolog_%20_3_%20_(Drosophila)"|DRF3_%2C__%20_FLJ34705_%2C__%20_AN_%2C__%20_NSDAN||13q21.2|2015-11-18||2015-11-18|AL137718||81624|ENSG00000139734|14767582_%2C__%20_20624953|NM_001042517|||CCDS41898_%2C__%20_CCDS58294_%2C__%20_CCDS58295_%2C__%20_CCDS58296_%2C__%20_CCDS58297_%2C__%20_CCDS73579_%2C__%20_CCDS73580|OTTHUMG00000017004|81624|614567|NM_001042517|Q9NSV4|ENSG00000139734|uc001vht.6|DIAP3_HUMAN||A2A3B8_%7C_A2A3B9_%7C_A2A3C0_%7C_Q18P99_%7C_Q18PA0_%7C_Q18PA1_%7C_Q2KPB6_%7C_Q3ZK23_%7C_Q5JTP8_%7C_Q5T2S7_%7C_Q5XKF6_%7C_Q6MZF0_%7C_Q6NUP0_%7C_Q86VS4_%7C_Q8NAV4|Q9NSV4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_spermatogenesis_%20_(GO:0007283)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +13 60738150 . C CAC . PASS FUNCOTATION=[DIAPH3|hg19|chr13|60738150|60738151|FIVE_PRIME_FLANK||INS|-|-|AC|g.chr13:60738150_60738151insAC|ENST00000267215.4|-||||||0.6225|CCTTCCGGGCACTGCGAAAC|DIAPH3_ENST00000377908.2_FIVE_PRIME_FLANK/DIAPH3_ENST00000400319.1_FIVE_PRIME_FLANK/DIAPH3_ENST00000400320.1_FIVE_PRIME_FLANK/DIAPH3_ENST00000400324.4_FIVE_PRIME_FLANK/DIAPH3_ENST00000400330.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||95|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_oesophagus(4)_%7C_pancreas(22)|||||||BX649186|NM_030932.3|NP_112194.2|HGNC:15480|diaphanous_%20_related_%20_formin_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AUNA1|"diaphanous_%20_(Drosophila_%2C__%20_homolog)_%20_3"_%2C__%20_"auditory_%20_neuropathy_%2C__%20_autosomal_%20_dominant_%20_1"_%2C__%20_"diaphanous_%20_homolog_%20_3_%20_(Drosophila)"|DRF3_%2C__%20_FLJ34705_%2C__%20_AN_%2C__%20_NSDAN||13q21.2|2015-11-18||2015-11-18|AL137718||81624|ENSG00000139734|14767582_%2C__%20_20624953|NM_001042517|||CCDS41898_%2C__%20_CCDS58294_%2C__%20_CCDS58295_%2C__%20_CCDS58296_%2C__%20_CCDS58297_%2C__%20_CCDS73579_%2C__%20_CCDS73580|OTTHUMG00000017004|81624|614567|NM_001042517|Q9NSV4|ENSG00000139734|uc001vht.6|DIAP3_HUMAN||A2A3B8_%7C_A2A3B9_%7C_A2A3C0_%7C_Q18P99_%7C_Q18PA0_%7C_Q18PA1_%7C_Q2KPB6_%7C_Q3ZK23_%7C_Q5JTP8_%7C_Q5T2S7_%7C_Q5XKF6_%7C_Q6MZF0_%7C_Q6NUP0_%7C_Q86VS4_%7C_Q8NAV4|Q9NSV4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_spermatogenesis_%20_(GO:0007283)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +19 9091787 . A ATTT . PASS FUNCOTATION=[MUC16|hg19|chr19|9091787|9091788|IN_FRAME_INS||INS|-|-|TTT|g.chr19:9091787_9091788insTTT|ENST00000397910.4|-|1|232|c.27_28insAAA|c.(25-30)gggtca>gggAAAtca|p.9_10insK|0.5275|GAGAAGATGACCCAGGAAGG||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +19 9091787 . A ATTTTTT . PASS FUNCOTATION=[MUC16|hg19|chr19|9091787|9091788|IN_FRAME_INS||INS|-|-|TTTTTT|g.chr19:9091787_9091788insTTTTTT|ENST00000397910.4|-|1|232|c.27_28insAAAAAA|c.(25-30)gggtca>gggAAAAAAtca|p.9_10insKK|0.5275|GAGAAGATGACCCAGGAAGG||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +19 9091787 . ACCCA A . PASS FUNCOTATION=[MUC16|hg19|chr19|9091788|9091791|FRAME_SHIFT_DEL||DEL|CCCA|CCCA|-|g.chr19:9091788_9091791delCCCA|ENST00000397910.4|-|1|232_235|c.24_27delTGGG|c.(22-27)cctgggfs|p.G9fs|0.5247524752475248|GAGAAGATGACCCAGGAAGGCCTG||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +19 9091788 . CCCA C . PASS FUNCOTATION=[MUC16|hg19|chr19|9091789|9091791|IN_FRAME_DEL||DEL|CCA|CCA|-|g.chr19:9091789_9091791delCCA|ENST00000397910.4|-|1|231_233|c.24_26delTGG|c.(22-27)cctggg>ccg|p.G9del|0.5235732009925558|AGAAGATGACCCAGGAAGGCCTG||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +19 9091788 . C CTAA . PASS FUNCOTATION=[MUC16|hg19|chr19|9091788|9091789|IN_FRAME_INS||INS|-|-|TAA|g.chr19:9091788_9091789insTAA|ENST00000397910.4|-|1|231|c.26_27insTTA|c.(25-27)ggg>ggTTAg|p.9_10ins*|0.5275|AGAAGATGACCCAGGAAGGC||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +19 9091788 . C CTAATAA . PASS FUNCOTATION=[MUC16|hg19|chr19|9091788|9091789|IN_FRAME_INS||INS|-|-|TAATAA|g.chr19:9091788_9091789insTAATAA|ENST00000397910.4|-|1|231|c.26_27insTTATTA|c.(25-27)ggg>ggTTATTAg|p.9_10insY*|0.5275|AGAAGATGACCCAGGAAGGC||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +19 9091789 . CCA C . PASS FUNCOTATION=[MUC16|hg19|chr19|9091790|9091791|FRAME_SHIFT_DEL||DEL|CA|CA|-|g.chr19:9091790_9091791delCA|ENST00000397910.4|-|1|230_231|c.24_25delTG|c.(22-24)cctfs|p.G9fs|0.5248756218905473|GAAGATGACCCAGGAAGGCCTG||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +19 9091789 . C CT . PASS FUNCOTATION=[MUC16|hg19|chr19|9091789|9091790|FRAME_SHIFT_INS||INS|-|-|T|g.chr19:9091789_9091790insT|ENST00000397910.4|-|1|230|c.25_26insA|c.(25-27)gggfs|p.G9fs|0.5275|GAAGATGACCCAGGAAGGCC||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +19 9091789 . C CTA . PASS FUNCOTATION=[MUC16|hg19|chr19|9091789|9091790|FRAME_SHIFT_INS||INS|-|-|TA|g.chr19:9091789_9091790insTA|ENST00000397910.4|-|1|230|c.25_26insTA|c.(25-27)gggfs|p.G9fs|0.5275|GAAGATGACCCAGGAAGGCC||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +19 9091789 . C CTAA . PASS FUNCOTATION=[MUC16|hg19|chr19|9091789|9091790|IN_FRAME_INS||INS|-|-|TAA|g.chr19:9091789_9091790insTAA|ENST00000397910.4|-|1|230|c.25_26insTTA|c.(25-27)ggg>gTTAgg|p.G9VR|0.5275|GAAGATGACCCAGGAAGGCC||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +19 9091789 . C CTAATAA . PASS FUNCOTATION=[MUC16|hg19|chr19|9091789|9091790|IN_FRAME_INS||INS|-|-|TAATAA|g.chr19:9091789_9091790insTAATAA|ENST00000397910.4|-|1|230|c.25_26insTTATTA|c.(25-27)ggg>gTTATTAgg|p.G9VIR|0.5275|GAAGATGACCCAGGAAGGCC||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +19 9091789 . CCAGGA CGTCCT . PASS FUNCOTATION=[MUC16|hg19|chr19|9091789|9091794|MISSENSE||ONP|CCAGGA|CCAGGA|CGTCCT|g.chr19:9091789_9091794CCAGGA>CGTCCT|ENST00000397910.4|-|1|230_235|c.21_26TCCTGG>AGGACG|c.(19-27)ctTCCTGgg>ctAGGACgg|p.8_9PG>GR|0.5246305418719212|AGAAGATGACCCAGGAAGGCCTGAGG||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +19 9091790 . C CA . PASS FUNCOTATION=[MUC16|hg19|chr19|9091790|9091791|FRAME_SHIFT_INS||INS|-|-|A|g.chr19:9091790_9091791insA|ENST00000397910.4|-|1|229|c.24_25insT|c.(25-27)gggfs|p.G9fs|0.525|AAGATGACCCAGGAAGGCCT||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +19 9091790 . C CAT . PASS FUNCOTATION=[MUC16|hg19|chr19|9091790|9091791|FRAME_SHIFT_INS||INS|-|-|AT|g.chr19:9091790_9091791insAT|ENST00000397910.4|-|1|229|c.24_25insAT|c.(25-27)gggfs|p.G9fs|0.525|AAGATGACCCAGGAAGGCCT||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +19 9091790 . C CATG . PASS FUNCOTATION=[MUC16|hg19|chr19|9091790|9091791|IN_FRAME_INS||INS|-|-|ATG|g.chr19:9091790_9091791insATG|ENST00000397910.4|-|1|229|c.24_25insCAT|c.(22-27)cctggg>cctCATggg|p.8_9insH|0.525|AAGATGACCCAGGAAGGCCT||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +19 9091790 . CA C . PASS FUNCOTATION=[MUC16|hg19|chr19|9091791|9091791|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr19:9091791delA|ENST00000397910.4|-|1|229|c.24delT|c.(22-24)cctfs|p.S10fs|0.5236907730673317|AAGATGACCCAGGAAGGCCTG||||||||||||||||||||||||||766|biliary_tract(2)_%7C_breast(211)_%7C_central_nervous_system(25)_%7C_haematopoietic_and_lymphoid_tissue(189)_%7C_large_intestine(36)_%7C_lung(135)_%7C_oesophagus(22)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AC016584|NM_024690.2|NP_078966.2|HGNC:15582|mucin_%20_16_%2C__%20_cell_%20_surface_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CA125_%2C__%20_FLJ14303||19p13.2|2015-09-04||2006-03-14|AF414442||94025||11369781|NM_024690|648|Mucins|CCDS54212||94025|606154|NM_024690|Q8WXI7|ENSG00000181143|uc002mkp.3|MUC16_HUMAN||Q6ZQW5_%7C_Q96RK2|Q8WXI7|cell_%20_adhesion_%20_(GO:0007155)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_O-glycan_%20_processing_%20_(GO:0016266)_%7C_post-translational_%20_protein_%20_modification_%20_(GO:0043687)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_membrane_%20_(GO:0019898)_%7C_Golgi_%20_lumen_%20_(GO:0005796)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_vesicle_%20_(GO:0031982)|||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2_expected.vcf b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2_expected.vcf index 050a9fab065..c61c64169d0 100644 --- a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2_expected.vcf +++ b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2_expected.vcf @@ -91,171 +91,171 @@ ##reference=/cromwell_root/broad-references/hg19/v0/Homo_sapiens_assembly19.fasta ##source=Funcotator #CHROM POS ID REF ALT QUAL FILTER INFO -chr1 10146 rs375931351 AC A 168.97 PASS FUNCOTATION=[DDX11L1|hg19|chr1|10147|10147|FIVE_PRIME_FLANK||DEL|C|C|-|g.chr1:10147delC|ENST00000456328.2|+||||||0.4463840399002494|CTAACCCTAACCCCTAACCCT|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 10390 . CCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA C 23.94 PASS FUNCOTATION=[DDX11L1|hg19|chr1|10391|10433|FIVE_PRIME_FLANK||DEL|CCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA|CCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA|-|g.chr1:10391_10433delCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA|ENST00000456328.2|+||||||0.5801354401805869|TAACCCTAACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCC|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 10397 . C CCCCTAACCCTAA 113.60 PASS FUNCOTATION=[DDX11L1|hg19|chr1|10397|10398|FIVE_PRIME_FLANK||INS|-|-|CCCTAACCCTAA|g.chr1:10397_10398insCCCTAACCCTAA|ENST00000456328.2|+||||||0.575|AACCCCTAACCCCTAACCCT|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 10492 . C T 13.30 PASS FUNCOTATION=[DDX11L1|hg19|chr1|10492|10492|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:10492C>T|ENST00000456328.2|+||||||0.6408977556109726|GCCGGCCCGCCCGCCCGGGTC|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 10719 . G C 14.26 PASS FUNCOTATION=[DDX11L1|hg19|chr1|10719|10719|FIVE_PRIME_FLANK||SNP|G|G|C|g.chr1:10719G>C|ENST00000456328.2|+||||||0.7630922693266833|GCAGAGAGGCGCGCCGCGCCG|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 12719 . G C 38.95 PASS FUNCOTATION=[DDX11L1|hg19|chr1|12719|12719|SPLICE_SITE|INTRON|SNP|G|G|C|g.chr1:12719G>C|ENST00000456328.2|+|||c.e2-2G>C|c.e2+2||0.6159600997506235|CAGTGTTGCAGAGGTGAGAGG|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 12807 . C T 37.53 PASS FUNCOTATION=[DDX11L1|hg19|chr1|12807|12807|RNA||SNP|C|C|T|g.chr1:12807C>T|ENST00000456328.2|+|||c.e2+86C>T|||0.6059850374064838|GGAGAGGCTTCGATGCCCCTC|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|62635285|12807|false|false|0|false|0|false||false|false|false|SNV|false|0x050000080005000002000100|1|false|129|rs62635285|] -chr1 13079 . C G 384.64 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13079|13079|RNA||SNP|C|C|G|g.chr1:13079C>G|ENST00000456328.2|+|||c.e3-142C>G|||0.5860349127182045|CCAGCTGGGTCGACAGACAGG|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|78890234|13079|false|false|0|false|0|false||false|false|false|SNV|true|0x050000080005040102000100|1|false|131|rs78890234|] -chr1 13079 . C G 47.49 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13079|13079|RNA||SNP|C|C|G|g.chr1:13079C>G|ENST00000456328.2|+|||c.e3-142C>G|||0.5860349127182045|CCAGCTGGGTCGACAGACAGG|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|78890234|13079|false|false|0|false|0|false||false|false|false|SNV|true|0x050000080005040102000100|1|false|131|rs78890234|] -chr1 13110 . G A 178.25 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13110|13110|RNA||SNP|G|G|A|g.chr1:13110G>A|ENST00000456328.2|+|||c.e3-111G>A|||0.5910224438902744|GGGGAGAAGAGGAAAGTGAGG|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false|0.9732_%2C_0.02676|false|false|1||false|true|false|DDX11L1:100287102|false|false|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|540538026|13110|false|false|0|false|0|false||false|false|false|SNV|true|0x050000080005150026000100|1|false|142|rs540538026|] -chr1 13273 . G C 611.73 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13273|13273|RNA||SNP|G|G|C|g.chr1:13273G>C|ENST00000456328.2|+|||c.e3+52G>C|||0.571072319201995|TCCTGGACCAGTGATACACCC|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false|0.905_%2C_0.09505|false|false|1||false|true|false|DDX11L1:100287102|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|531730856|13273|false|false|0|true|0|false||false|false|false|SNV|true|0x050100000005150026000100|1|false|142|rs531730856|] -chr1 13417 . C CGAGA 391.16 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13417|13418|RNA||INS|-|-|GAGA|g.chr1:13417_13418insGAGA|ENST00000456328.2|+|||c.e3+196C>CGAGA|||0.5775|CCACCACCCCGAGATCACAT|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false||false|false|||false|true|true|DDX11L1:100287102|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|777038595|13417|false|false|0|false|0|false||false|false|false|DIV|true|0x050000000005070002000200|1|false|144|rs777038595|] -chr1 13418 . G A 151.93 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13418|13418|RNA||SNP|G|G|A|g.chr1:13418G>A|ENST00000456328.2|+|||c.e3+197G>A|||0.5760598503740648|CCACCACCCCGAGATCACATT|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|75175547|13418|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000005000102000100|1|false|131|rs75175547|] -chr1 13613 . T A 20.73 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13613|13613|RNA||SNP|T|T|A|g.chr1:13613T>A|ENST00000456328.2|+|||c.e3+392T>A|||0.5885286783042394|GTCCAGAGTGTTGCCAGGACC|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|879980801|13613|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000005000002000100|1|false|149|rs879980801|] -chr1 13684 . C T 26.94 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13684|13684|RNA||SNP|C|C|T|g.chr1:13684C>T|ENST00000456328.2|+|||c.e3+463C>T|||0.5810473815461347|ATGGTGGGTCCTGGCCATCCG|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|71260404|13684|true|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000102000100|1|false|130|rs71260404|] -chr1 13813 . T G 129.85 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13813|13813|RNA||SNP|T|T|G|g.chr1:13813T>G|ENST00000456328.2|+|||c.e3+592T>G|||0.57356608478803|CCTGCCCACCTTCTTAGAAGC|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 13838 rs200683566 C T 117.84 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13838|13838|RNA||SNP|C|C|T|g.chr1:13838C>T|ENST00000456328.2|+|||c.e3-571C>T|||0.5685785536159601|CGGAGCAGACCCATCTGCTAC|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28428499|13838|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000005000002000100|1|false|125|rs28428499|] -chr1 13868 . A G 17.86 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13868|13868|RNA||SNP|A|A|G|g.chr1:13868A>G|ENST00000456328.2|+|||c.e3-541A>G|||0.571072319201995|TATAATAACTAAAGTTAGCTG|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102_%7C_WASH7P:653635|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|796086906|13868|false|false|0|false|0|false||false|false|false|SNV|false|0x050000080005000002000100|1|false|146|rs796086906|] -chr1 13912 . G A 42.60 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13912|13912|RNA||SNP|G|G|A|g.chr1:13912G>A|ENST00000456328.2|+|||c.e3-497G>A|||0.5610972568578554|CTCAATTTAAGAAGATCCCCA|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102_%7C_WASH7P:653635|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2691324|13912|true|false|0|false|1|false||false|false|false|SNV|false|0x050000080005000102000140|1|false|100|rs2691324|] -chr1 14542 . A G 13.46 PASS FUNCOTATION=[Unknown|hg19|chr1|14542|14542|IGR||SNP|A|A|G|g.chr1:14542A>G|no_transcript|||||||0.5835411471321695|TGTGGCCTCAAGCCAGCCTTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102_%7C_WASH7P:653635|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|1045833|14542|true|false|0|false|0|false||false|false|false|SNV|false|0x050000040005000002000100|1|false|86|rs1045833|] -chr1 14574 . A G 17.16 PASS FUNCOTATION=[Unknown|hg19|chr1|14574|14574|IGR||SNP|A|A|G|g.chr1:14574A>G|no_transcript|||||||0.5885286783042394|GCTGGTCTCCACACAGTGCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102_%7C_WASH7P:653635|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|28503599|14574|false|false|0|false|0|false||false|false|false|SNV|true|0x050000040005040102000100|1|false|125|rs28503599|] -chr1 14590 . G A 27.30 PASS FUNCOTATION=[Unknown|hg19|chr1|14590|14590|IGR||SNP|G|G|A|g.chr1:14590G>A|no_transcript|||||||0.6059850374064838|TGCTGGTTCCGTCACCCCCTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102_%7C_WASH7P:653635|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|707679|14590|true|false|0|false|0|false||false|false|false|SNV|true|0x050000040005040102000100|1|false|86|rs707679|] -chr1 14599 . T A 103.21 PASS FUNCOTATION=[Unknown|hg19|chr1|14599|14599|IGR||SNP|T|T|A|g.chr1:14599T>A|no_transcript|||||||0.6159600997506235|CGTCACCCCCTCCCAAGGAAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8524_%2C_0.1476|false|false|1||false|true|true|DDX11L1:100287102_%7C_WASH7P:653635|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|707680|14599|true|false|0|false|0|false||false|false|false|SNV|false|0x050000040005030026000100|1|false|86|rs707680|] -chr1 14604 . A G 170.78 PASS FUNCOTATION=[Unknown|hg19|chr1|14604|14604|IGR||SNP|A|A|G|g.chr1:14604A>G|no_transcript|||||||0.6159600997506235|CCCCCTCCCAAGGAAGTAGGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8524_%2C_0.1476|false|false|1||false|true|true|DDX11L1:100287102_%7C_WASH7P:653635|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|541940975|14604|false|false|0|false|0|false||false|false|false|SNV|true|0x050000040005170026000100|1|false|142|rs541940975|] -chr1 30548 rs376676075 T G 76.31 PASS FUNCOTATION=[Unknown|hg19|chr1|30548|30548|IGR||SNP|T|T|G|g.chr1:30548T>G|no_transcript|||||||0.42144638403990026|TTCCTAACACTCTCTCCCTCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|true|true|WASH7P:653635_%7C_MIR1302-2:100302278|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|false|62028215|30548|true|false|0|true|0|false||false|false|false|SNV|false|0x050100060005030102000100|1|false|129|rs62028215|] -chr1 69968 . A G 44.09 PASS FUNCOTATION=[OR4F5|hg19|chr1|69968|69968|MISSENSE||SNP|A|A|G|g.chr1:69968A>G|ENST00000335137.3|+|1|878|c.878A>G|c.(877-879)cAg>cGg|p.Q293R|0.35910224438902744|GCAATAAGACAGCTGAGAAAA||||||||||||||||||||||||||46|biliary_tract(2)_%7C_central_nervous_system(22)_%7C_pancreas(22)|||||||AL627309|NM_001005484.1|NP_001005484.1|HGNC:14825|olfactory_%20_receptor_%20_family_%20_4_%20_subfamily_%20_F_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"olfactory_%20_receptor_%2C__%20_family_%20_4_%2C__%20_subfamily_%20_F_%2C__%20_member_%20_5"|||1p36.33|2015-12-09||2015-12-09|AB065592||79501|ENSG00000186092||NM_001005484|151|Olfactory_%20_receptors_%2C__%20_family_%20_4|CCDS30547|OTTHUMG00000001094|79501||NM_001005484|Q8NH21|ENSG00000186092|uc001aal.1|OR4F5_HUMAN||Q5VT22|Q8NH21||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 92638 rs199618747 A T 241.23 PASS FUNCOTATION=[RP11-34P13.7|hg19|chr1|92638|92638|LINCRNA||SNP|A|A|T|g.chr1:92638A>T|ENST00000466430.1|-|||c.e3+398T>A|||0.44139650872817954|AACCTCTCCAAACCTCAGTCC|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4430272|92638|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000102000100|1|false|111|rs4430272|] -chr1 93097 . C T 390.35 PASS FUNCOTATION=[RP11-34P13.7|hg19|chr1|93097|93097|LINCRNA||SNP|C|C|T|g.chr1:93097C>T|ENST00000466430.1|-|||c.e3+857G>A|||0.3316708229426434|TGAACTTCAGCGTCTGGACAA|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|62642102|93097|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000002000100|1|false|129|rs62642102|] -chr1 93449 . A G 142.26 PASS FUNCOTATION=[RP11-34P13.7|hg19|chr1|93449|93449|LINCRNA||SNP|A|A|G|g.chr1:93449A>G|ENST00000466430.1|-|||c.e3+1209T>C|||0.33915211970074816|TTAACAGAAAAAGAAAATATG|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|867796198|93449|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000002000100|1|false|147|rs867796198|] -chr1 93757 . C T 331.41 PASS FUNCOTATION=[RP11-34P13.7|hg19|chr1|93757|93757|LINCRNA||SNP|C|C|T|g.chr1:93757C>T|ENST00000466430.1|-|||c.e3+1517G>A|||0.4339152119700748|TGTTTTTAGACGGAGTCTTGC|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|867679461|93757|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000002000100|1|false|147|rs867679461|] -chr1 94271 rs200715572 C G 178.71 PASS FUNCOTATION=[RP11-34P13.7|hg19|chr1|94271|94271|LINCRNA||SNP|C|C|G|g.chr1:94271C>G|ENST00000466430.1|-|||c.e3+2031G>C|||0.4688279301745636|CCTATGGCCGCTGTTAGGATC|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|200715572|94271|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000005000002000100|1|false|137|rs200715572|] -chr1 94570 rs200113991 T G 26.58 PASS FUNCOTATION=[RP11-34P13.7|hg19|chr1|94570|94570|LINCRNA||SNP|T|T|G|g.chr1:94570T>G|ENST00000466430.1|-|||c.e3+2330A>C|||0.4763092269326683|CAAGATGGCCTCACTCACAGG|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|200113991|94570|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000005000002000100|1|false|137|rs200113991|] -chr1 94824 . C CT 93.67 PASS FUNCOTATION=[RP11-34P13.7|hg19|chr1|94824|94825|LINCRNA||INS|-|-|T|g.chr1:94824_94825insT|ENST00000466430.1|-|||c.e3+2584G>AG|||0.4325|TTTTCTTTTCTTTTTTTTTT|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 95907 . A C 152.58 PASS FUNCOTATION=[RP11-34P13.7|hg19|chr1|95907|95907|LINCRNA||SNP|A|A|C|g.chr1:95907A>C|ENST00000466430.1|-|||c.e3+3667T>G|||0.513715710723192|CATACTGCACAAGGAGGGAAC|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 96431 . T A 31.31 PASS FUNCOTATION=[RP11-34P13.7|hg19|chr1|96431|96431|LINCRNA||SNP|T|T|A|g.chr1:96431T>A|ENST00000466430.1|-|||c.e3+4191A>T|||0.4538653366583541|GGTGTCTGTGTGGGCTGGGGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 97661 rs200930721 T C 27.30 PASS FUNCOTATION=[RP11-34P13.7|hg19|chr1|97661|97661|LINCRNA||SNP|T|T|C|g.chr1:97661T>C|ENST00000466430.1|-|||c.e3+5421A>G|||0.32917705735660846|AGTTGTAAAATAGATCTTTTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4317759|97661|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000005000002000100|1|false|111|rs4317759|] -chr1 135040 rs141523926 T C 561.12 PASS FUNCOTATION=[AL627309.1|hg19|chr1|135040|135040|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:135040T>C|ENST00000423372.3|-|2|||||0.5261845386533666|ACGTGAGGAATGAGCTGGGCC||||||||||||||||||||||||||||||||||AL627309||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|LOC729737:729737|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|62642130|135040|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000016000100|1|false|129|rs62642130|] -chr1 137622 rs376555721 G A 103.11 PASS FUNCOTATION=[AL627309.1|hg19|chr1|137622|137622|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:137622G>A|ENST00000423372.3|-|1|||||0.655860349127182|AGGCAGGGCCGGGAGAGCCCG||||||||||||||||||||||||||||||||||AL627309||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|LOC729737:729737|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|376555721|137622|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000005000002000100|1|false|138|rs376555721|] -chr1 137825 rs147252685 G A 260.25 PASS FUNCOTATION=[AL627309.1|hg19|chr1|137825|137825|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:137825G>A|ENST00000423372.3|-|1|||||0.6483790523690773|GACCAAGGCCGCCAGGAGATG||||||||||||||||||||||||||||||||||AL627309||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|LOC729737:729737|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|147252685|137825|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000016000100|1|false|134|rs147252685|] -chr1 138156 rs370691115 G T 368.12 PASS FUNCOTATION=[AL627309.1|hg19|chr1|138156|138156|THREE_PRIME_UTR||SNP|G|G|T|g.chr1:138156G>T|ENST00000423372.3|-|1|||||0.6683291770573566|TGGAGAGTCCGCTGTGAGGCA||||||||||||||||||||||||||||||||||AL627309||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|LOC729737:729737|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|370691115|138156|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000002000100|1|false|138|rs370691115|] -chr1 138593 rs375595668 G T 204.25 PASS FUNCOTATION=[AL627309.1|hg19|chr1|138593|138593|SILENT||SNP|G|G|T|g.chr1:138593G>T|ENST00000423372.3|-|1|787|c.717C>A|c.(715-717)gcC>gcA|p.A239A|0.57356608478803|GCTGCTGGCAGGCAGGCAGAA||||||||||||||||||||||||||||||||||AL627309||||||||||||||||||||||||||||||||||||||||||true|false|0.9549_%2C_0.04513|false|false|1||false|true|false|LOC729737:729737|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|375595668|138593|false|false|0|true|0|false||false|false|false|SNV|true|0x050100000005150026000100|1|false|138|rs375595668|] -chr1 139058 . C G 407.93 PASS FUNCOTATION=[AL627309.1|hg19|chr1|139058|139058|SILENT||SNP|C|C|G|g.chr1:139058C>G|ENST00000423372.3|-|1|322|c.252G>C|c.(250-252)cgG>cgC|p.R84R|0.5910224438902744|CAGGAGTTGGCCGTGGAGAGG||||||||||||||||||||||||||||||||||AL627309||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|LOC729737:729737|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|62642132|139058|false|false|0|false|1|false||false|false|false|SNV|false|0x050000000005000002000140|1|false|129|rs62642132|] -chr1 139213 rs370723703 A G 404.25 PASS FUNCOTATION=[AL627309.1|hg19|chr1|139213|139213|MISSENSE||SNP|A|A|G|g.chr1:139213A>G|ENST00000423372.3|-|1|167|c.97T>C|c.(97-99)Tgc>Cgc|p.C33R|0.5960099750623441|CTTGTGAAGCATGAGCTTGGC||||||||||||||||||||||||||||||||||AL627309||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|true|true|LOC729737:729737|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|370723703|139213|false|false|0|true|0|false||false|false|false|SNV|true|0x050100000005070002000100|1|false|138|rs370723703|] -chr1 139233 rs373847457 C A 508.25 PASS FUNCOTATION=[AL627309.1|hg19|chr1|139233|139233|MISSENSE||SNP|C|C|A|g.chr1:139233C>A|ENST00000423372.3|-|1|147|c.77G>T|c.(76-78)gGc>gTc|p.G26V|0.600997506234414|CCTAAAGAGGCCACTGGGTGG||||||||||||||||||||||||||||||||||AL627309||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|true|true|LOC729737:729737|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|373847457|139233|false|false|0|true|0|false||false|false|false|SNV|true|0x050100000005070002000100|1|false|138|rs373847457|] -chr1 739130 . TA T 122.25 PASS FUNCOTATION=[AL669831.1|hg19|chr1|739131|739131|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:739131delA|ENST00000599533.1|-|1|8|c.7delT|c.(7-9)tacfs|p.Y3fs|0.3740648379052369|ATGATAAAGTAAAAAAAAAAA|RP11-206L10.8_ENST00000447500.1_RNA|||||||||||||||||||||||||||||||||AL669831||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|568704157|739131|false|false|0|false|0|false||false|false|false|DIV|false|0x050000000005000002000200|1|false|142|rs568704157|] -chr1 865628 rs41285790 G A 243.25 PASS FUNCOTATION=[SAMD11|hg19|chr1|865628|865628|MISSENSE||SNP|G|G|A|g.chr1:865628G>A|ENST00000342066.3|+|3|249|c.166G>A|c.(166-168)Ggt>Agt|p.G56S|0.655860349127182|TGCCAGCGATGGTGACAGCGA|AL645608.1_ENST00000598827.1_SILENT_p.T38T|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9972_%2C_0.002796|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|41285790|865628|false|false|0|true|0|false|0.996909_%2C_0.00309087|false|false|false|SNV|true|0x050100000a05040436000100|1|false|127|rs41285790|] -chr1 877831 rs6672356 T C 3309.69 PASS FUNCOTATION=[SAMD11|hg19|chr1|877831|877831|MISSENSE||SNP|T|T|C|g.chr1:877831T>C|ENST00000342066.3|+|10|1110|c.1027T>C|c.(1027-1029)Tgg>Cgg|p.W343R|0.7655860349127181|GATGTTCGCCTGGCAGCAGGA||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0_%2C_1|false|false|0||false|false|false|SAMD11:148398|true|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|6672356|877831|false|false|0|true|0|false|0.000377773_%2C_0.999622|false|false|false|SNV|true|0x050100080a05040536000100|1|false|116|rs6672356|] -chr1 878331 rs148327885 C T 511.25 PASS FUNCOTATION=[SAMD11|hg19|chr1|878331|878331|MISSENSE||SNP|C|C|T|g.chr1:878331C>T|ENST00000342066.3|+|11|1540|c.1457C>T|c.(1456-1458)cCg>cTg|p.P486L|0.6882793017456359|GGGCCCACTCCGGGCCAAGCT||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9948_%2C_0.005192|false|false|1||false|false|false|SAMD11:148398|false|false|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|148327885|878331|false|false|0|false|0|false|0.990795_%2C_0.00920456|false|false|false|SNV|true|0x050000080a05040036000100|1|false|134|rs148327885|] -chr1 879676 rs6605067 G A 5063.69 PASS FUNCOTATION=[NOC2L|hg19|chr1|879676|879676|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:879676G>A|ENST00000327044.6|-|19|||||0.5785536159600998|TCAAAGGAAAGGAACAAATTT|SAMD11_ENST00000342066.3_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.114_%2C_0.886|false|false|1||false|true|true|SAMD11:148398_%7C_NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|6605067|879676|false|false|0|true|0|true|0.116011_%2C_0.883989|false|true|false|SNV|true|0x05010084030517053e000100|1|false|116|rs6605067|] -chr1 879687 rs2839 T C 4923.69 PASS FUNCOTATION=[NOC2L|hg19|chr1|879687|879687|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:879687T>C|ENST00000327044.6|-|19|||||0.5810473815461347|GAACAAATTTTCAAAGACTTG|SAMD11_ENST00000342066.3_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.07887_%2C_0.9211_%2C_.|false|false|1||false|true|false|SAMD11:148398_%7C_NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|true|false|true|2839|879687|false|false|0|true|0|false|0.067278_%2C_0.932722_%2C_.|false|true|false|SNV|true|0x050100840a0515053e000100|1|false|36|rs2839|] -chr1 881627 rs2272757 G A 2159.94 PASS FUNCOTATION=[NOC2L|hg19|chr1|881627|881627|SILENT||SNP|G|G|A|g.chr1:881627G>A|ENST00000327044.6|-|16|1893|c.1843C>T|c.(1843-1845)Ctg>Ttg|p.L615L|0.6408977556109726|TACAAGGTCAGGGGTGTCCCC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.5581_%2C_0.4419|false|false|1||false|true|true|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|2272757|881627|true|false|0|true|0|true|0.601312_%2C_0.398688|false|false|false|SNV|true|0x050100000305170536000100|1|false|100|rs2272757|] -chr1 887801 rs3828047 A G 3243.69 PASS FUNCOTATION=[NOC2L|hg19|chr1|887801|887801|SILENT||SNP|A|A|G|g.chr1:887801A>G|ENST00000327044.6|-|10|1232|c.1182T>C|c.(1180-1182)acT>acC|p.T394T|0.6334164588528678|CCTTCTTGCGAGTGGTCATGG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.07768_%2C_0.9223_%2C_.|false|false|1||false|true|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|3828047|887801|false|false|0|true|0|true|0.067381_%2C_0.932619_%2C_.|false|false|false|SNV|true|0x05010000030515053e000100|1|false|107|rs3828047|] -chr1 888639 rs3748596 T C 3467.69 PASS FUNCOTATION=[NOC2L|hg19|chr1|888639|888639|SILENT||SNP|T|T|C|g.chr1:888639T>C|ENST00000327044.6|-|9|968|c.918A>G|c.(916-918)gaA>gaG|p.E306E|0.6134663341645885|GCAGAGACTCTTCCCCAGTGC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.07728_%2C_0.9227_%2C_.|false|false|1||false|true|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|3748596|888639|false|false|0|true|0|true|0.0672093_%2C_0.932791_%2C_.|false|false|false|SNV|true|0x050100000b0515053e000100|1|false|107|rs3748596|] -chr1 888659 rs3748597 T C 3628.69 PASS FUNCOTATION=[NOC2L|hg19|chr1|888659|888659|MISSENSE||SNP|T|T|C|g.chr1:888659T>C|ENST00000327044.6|-|9|948|c.898A>G|c.(898-900)Atc>Gtc|p.I300V|0.6084788029925187|CTCCATACGATCACCATTCTC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.07728_%2C_0.9227|false|false|1||false|true|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|3748597|888659|false|false|0|true|0|false|0.0672093_%2C_0.932791|false|false|false|SNV|true|0x050100000a0515053f000100|1|false|107|rs3748597|] -chr1 897325 rs4970441 G C 3379.69 PASS FUNCOTATION=[KLHL17|hg19|chr1|897325|897325|SILENT||SNP|G|G|C|g.chr1:897325G>C|ENST00000338591.3|+|4|716|c.609G>C|c.(607-609)gcG>gcC|p.A203A|0.6483790523690773|TTGCCGATGCGCACTCCTGCA|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.1408_%2C_0.8592_%2C_.|false|false|1||false|true|false|KLHL17:339451|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|4970441|897325|true|false|0|true|0|true|0.167354_%2C_0.832646_%2C_.|false|false|false|SNV|true|0x05010002030515053e000100|1|false|111|rs4970441|] -chr1 900505 rs28705211 G C 979.12 PASS FUNCOTATION=[KLHL17|hg19|chr1|900505|900505|SILENT||SNP|G|G|C|g.chr1:900505G>C|ENST00000338591.3|+|12|1970|c.1863G>C|c.(1861-1863)gtG>gtC|p.V621V|0.6134663341645885|GTGTGGCGGTGCTGGAGCTGC|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.8313_%2C_0.1687|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|28705211|900505|false|true|0|true|0|true|0.830071_%2C_0.169929|false|false|false|SNV|true|0x050300020305150536000100|1|false|125|rs28705211|] -chr1 900717 rs374537094 CTTAT C 2513.94 PASS FUNCOTATION=[KLHL17|hg19|chr1|900718|900721|THREE_PRIME_UTR||DEL|TTAT|TTAT|-|g.chr1:900718_900721delTTAT|ENST00000338591.3|+|12|||||0.6014851485148515|GTTATTTATCTTATTTATTGAGGG|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.6294_%2C_0.3706_%7C_0.6294_%2C_0.3706|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|false_%7C_false|PLEKHN1:84069_%7C_KLHL17:339451_%7C_PLEKHN1:84069_%7C_KLHL17:339451|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_true|false_%7C_false|142545439_%7C_374537094|900718_%7C_900723|false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|0_%7C_0|false_%7C_false|0.619651_%2C_0.380349_%7C_|false_%7C_false|true_%7C_true|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05000082000515003e000200_%7C_0x050000820005000002000200|1_%7C_1|false_%7C_false|134_%7C_138|rs142545439_%7C_rs374537094|_%7C_] -chr1 900730 rs3935066 G A 4418.69 PASS FUNCOTATION=[KLHL17|hg19|chr1|900730|900730|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:900730G>A|ENST00000338591.3|+|12|||||0.6059850374064838|ATTTATTGAGGGGTGAGGAGT|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.3526_%2C_0.6474|false|false|1||false|true|true|PLEKHN1:84069_%7C_KLHL17:339451|true|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3935066|900730|true|false|0|true|0|false|0.383405_%2C_0.616595|false|true|false|SNV|true|0x05010082000517052f000100|1|false|108|rs3935066|] -chr1 900972 rs9697711 T G 3993.69 PASS FUNCOTATION=[KLHL17|hg19|chr1|900972|900972|THREE_PRIME_UTR||SNP|T|T|G|g.chr1:900972T>G|ENST00000338591.3|+|12|||||0.628428927680798|TGGGGAGCAGTTGTCCTTCCT|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.06989_%2C_._%2C_0.9301|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|9697711|900972|false|false|0|true|0|false|0.0587952_%2C_._%2C_0.941205|false|true|false|SNV|true|0x05010082000515053e000100|1|false|119|rs9697711|] -chr1 901023 rs13303351 T C 3583.69 PASS FUNCOTATION=[KLHL17|hg19|chr1|901023|901023|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:901023T>C|ENST00000338591.3|+|12|||||0.6209476309226932|GATCTTGTAGTGGGTGCACAC|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.1134_%2C_0.8866|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|13303351|901023|false|false|0|true|0|false|0.121265_%2C_0.878735|false|true|false|SNV|true|0x05010082000515053e000100|1|false|121|rs13303351|] -chr1 906272 rs28507236 A C 529.25 PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906272|906272|SILENT||SNP|A|A|C|g.chr1:906272A>C|ENST00000379410.3|+|6|533|c.498A>C|c.(496-498)gcA>gcC|p.A166A|0.7007481296758105|CACTGCCCGCACCCCTCCTGG|PLEKHN1_ENST00000379407.3_SILENT_p.A166A/PLEKHN1_ENST00000379409.2_SILENT_p.A206A|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.8199_%2C_0.1801|false|false|1||false|true|false|PLEKHN1:84069|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|28507236|906272|false|false|0|true|0|true|0.850436_%2C_0.149564|false|false|false|SNV|true|0x05010000030515013e000100|1|false|125|rs28507236|] -chr1 909238 rs3829740 G C 3368.89 PASS FUNCOTATION=[PLEKHN1|hg19|chr1|909238|909238|MISSENSE||SNP|G|G|C|g.chr1:909238G>C|ENST00000379410.3|+|14|1495|c.1460G>C|c.(1459-1461)cGt>cCt|p.R487P|0.6758104738154613|CAGAGTGCACGTGGACCCACG|PLEKHN1_ENST00000379407.3_MISSENSE_p.R452P/PLEKHN1_ENST00000379409.2_MISSENSE_p.R539P|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.2234_%2C_0.7766|false|false|1||false|true|true|PLEKHN1:84069|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|3829740|909238|true|false|0|true|0|false|0.307061_%2C_0.692939|false|false|false|SNV|true|0x050100000a0517053e000100|1|false|107|rs3829740|] -chr1 909242 rs3829739 A G 804.25 PASS FUNCOTATION=[PLEKHN1|hg19|chr1|909242|909242|SILENT||SNP|A|A|G|g.chr1:909242A>G|ENST00000379410.3|+|14|1499|c.1464A>G|c.(1462-1464)ggA>ggG|p.G488G|0.6783042394014963|GTGCACGTGGACCCACGCCCT|PLEKHN1_ENST00000379407.3_SILENT_p.G453G/PLEKHN1_ENST00000379409.2_SILENT_p.G540G|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.8682_%2C_0.1318|false|false|1||false|true|false|PLEKHN1:84069|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|3829739|909242|true|false|0|true|0|true|0.879456_%2C_0.120544|false|false|false|SNV|true|0x05010000030515013e000100|1|false|107|rs3829739|] -chr1 911595 rs7417106 A G 2958.89 PASS FUNCOTATION=[C1orf170|hg19|chr1|911595|911595|MISSENSE||SNP|A|A|G|g.chr1:911595A>G|ENST00000341290.2|-|5|2024|c.1988T>C|c.(1987-1989)gTg>gCg|p.V663A|0.7082294264339152|CCCTTGCCCCACCTGCCGGCG|C1orf170_ENST00000433179.2_MISSENSE_p.V683A|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||||||||||||||||||||||||||||||||||PERM1_HUMAN||Q6ZVZ7_%7C_Q9BRF2_%7C_S5G239|Q5SV97|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_response_%20_to_%20_muscle_%20_activity_%20_(GO:0014850)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|||||true|false|0.2897_%2C_0.7103|false|false|1||false|true|false|PERM1:84808|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|7417106|911595|false|false|0|true|0|false|0.349818_%2C_0.650182|false|false|false|SNV|true|0x050100000a0515053e000100|1|false|116|rs7417106|] -chr1 914333 rs13302979 C G 3769.69 PASS FUNCOTATION=[C1orf170|hg19|chr1|914333|914333|MISSENSE||SNP|C|C|G|g.chr1:914333C>G|ENST00000341290.2|-|3|1771|c.1735G>C|c.(1735-1737)Gag>Cag|p.E579Q|0.7032418952618454|CCCGCCCCCTCGGAGGCCGAC|C1orf170_ENST00000433179.2_MISSENSE_p.E599Q|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||||||||||||||||||||||||||||||||||PERM1_HUMAN||Q6ZVZ7_%7C_Q9BRF2_%7C_S5G239|Q5SV97|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_response_%20_to_%20_muscle_%20_activity_%20_(GO:0014850)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|||||true|false|0.4437_%2C_0.5563|false|false|1||false|true|true|PERM1:84808|true|false|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|13302979|914333|false|false|0|true|0|false|0.526547_%2C_0.473453|false|false|false|SNV|true|0x050100000a0517013e000100|1|false|121|rs13302979|] -chr1 935459 rs3128113 A G 2299.94 PASS FUNCOTATION=[HES4|hg19|chr1|935459|935459|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:935459A>G|ENST00000304952.6|-|1|||||0.770573566084788|CCTAGGGCGGATCCCGGCTCC|HES4_ENST00000428771.2_FIVE_PRIME_UTR/HES4_ENST00000484667.2_FIVE_PRIME_FLANK/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC012351|||HGNC:24149|hes_%20_family_%20_bHLH_%20_transcription_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"hairy_%20_and_%20_enhancer_%20_of_%20_split_%20_4_%20_(Drosophila)"|bHLHb42||1p36.33|2016-10-05||2013-10-17|BC012351||57801|ENSG00000188290|11260262_%2C__%20_15254753|NM_021170|420|Basic_%20_helix-loop-helix_%20_proteins|CCDS5_%2C__%20_CCDS44034|OTTHUMG00000040758|57801|608060|NM_001142467|Q9HCC6|ENSG00000188290|uc001aci.3|HES4_HUMAN||Q5SVA5|Q9HCC6|cell_%20_differentiation_%20_(GO:0030154)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)||||true|false|0.3229_%2C_0.6771|false|false|1||false|true|true|HES4:57801|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3128113|935459|false|false|0|true|0|false|0.394773_%2C_0.605227|false|false|true|SNV|true|0x050100400005170136000100|1|false|103|rs3128113|] -chr1 935492 rs3121571 G T 2300.94 PASS FUNCOTATION=[HES4|hg19|chr1|935492|935492|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:935492G>T|ENST00000428771.2|-|1|||||0.773067331670823|GCCTCAGGCCGTTTCCCTATT|HES4_ENST00000304952.6_FIVE_PRIME_FLANK/HES4_ENST00000484667.2_FIVE_PRIME_FLANK/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||AL645608|NM_021170.3|NP_066993.1|HGNC:24149|hes_%20_family_%20_bHLH_%20_transcription_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"hairy_%20_and_%20_enhancer_%20_of_%20_split_%20_4_%20_(Drosophila)"|bHLHb42||1p36.33|2016-10-05||2013-10-17|BC012351||57801|ENSG00000188290|11260262_%2C__%20_15254753|NM_021170|420|Basic_%20_helix-loop-helix_%20_proteins|CCDS5_%2C__%20_CCDS44034|OTTHUMG00000040758|57801|608060|NM_001142467|Q9HCC6|ENSG00000188290|uc001aci.3|HES4_HUMAN||Q5SVA5|Q9HCC6|cell_%20_differentiation_%20_(GO:0030154)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)||||true|false|0.3229_%2C_0.6771|false|false|1||false|true|true|HES4:57801|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3121571|935492|true|false|0|true|0|false|0.395597_%2C_0.604403|false|false|true|SNV|true|0x050100400005170136000100|1|false|103|rs3121571|] -chr1 948846 rs3841266 T TA 4675.73 PASS FUNCOTATION=[ISG15|hg19|chr1|948846|948847|FIVE_PRIME_UTR||INS|-|-|A|g.chr1:948846_948847insA|ENST00000379389.4|+|1|||||0.6225|CCTCAGGCTTATAATAGGGC|RP11-54O7.11_ENST00000458555.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M21786|NM_005101.3|NP_005092.1|HGNC:4053|ISG15_%20_ubiquitin-like_%20_modifier|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|G1P2|"interferon_%2C__%20_alpha-inducible_%20_protein_%20_(clone_%20_IFI-15K)"|IFI15_%2C__%20_UCRP||1p36.33|2015-08-25|2006-04-28|2006-04-28|BC009507||9636|ENSG00000187608|3087979|NM_005101|||CCDS6|OTTHUMG00000040777|9636|147571|NM_005101|P05161|ENSG00000187608|uc001acj.5|ISG15_HUMAN||Q5SVA4_%7C_Q7Z2G2_%7C_Q96GF0|P05161|cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_defense_%20_response_%20_to_%20_bacterium_%20_(GO:0042742)_%7C_defense_%20_response_%20_to_%20_virus_%20_(GO:0051607)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_ISG15-protein_%20_conjugation_%20_(GO:0032020)_%7C_modification-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0019941)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032480)_%7C_negative_%20_regulation_%20_of_%20_viral_%20_genome_%20_replication_%20_(GO:0045071)_%7C_positive_%20_regulation_%20_of_%20_erythrocyte_%20_differentiation_%20_(GO:0045648)_%7C_regulation_%20_of_%20_interferon-gamma_%20_production_%20_(GO:0032649)_%7C_response_%20_to_%20_type_%20_I_%20_interferon_%20_(GO:0034340)_%7C_type_%20_I_%20_interferon_%20_signaling_%20_pathway_%20_(GO:0060337)_%7C_viral_%20_process_%20_(GO:0016032)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|protein_%20_tag_%20_(GO:0031386)||||true|false|0.1456_%2C_0.8544|false|false|1||false|true|false|ISG15:9636|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3841266|948846|true|false|0|true|0|false||false|false|false|DIV|true|0x05010002000515013e000200|1|false|107|rs3841266|] -chr1 948870 rs4615788 C G 4296.69 PASS FUNCOTATION=[ISG15|hg19|chr1|948870|948870|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:948870C>G|ENST00000379389.4|+|1|||||0.6184538653366584|TGCTGCCTGCCGAAGCCGGCG|RP11-54O7.11_ENST00000458555.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M21786|NM_005101.3|NP_005092.1|HGNC:4053|ISG15_%20_ubiquitin-like_%20_modifier|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|G1P2|"interferon_%2C__%20_alpha-inducible_%20_protein_%20_(clone_%20_IFI-15K)"|IFI15_%2C__%20_UCRP||1p36.33|2015-08-25|2006-04-28|2006-04-28|BC009507||9636|ENSG00000187608|3087979|NM_005101|||CCDS6|OTTHUMG00000040777|9636|147571|NM_005101|P05161|ENSG00000187608|uc001acj.5|ISG15_HUMAN||Q5SVA4_%7C_Q7Z2G2_%7C_Q96GF0|P05161|cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_defense_%20_response_%20_to_%20_bacterium_%20_(GO:0042742)_%7C_defense_%20_response_%20_to_%20_virus_%20_(GO:0051607)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_ISG15-protein_%20_conjugation_%20_(GO:0032020)_%7C_modification-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0019941)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032480)_%7C_negative_%20_regulation_%20_of_%20_viral_%20_genome_%20_replication_%20_(GO:0045071)_%7C_positive_%20_regulation_%20_of_%20_erythrocyte_%20_differentiation_%20_(GO:0045648)_%7C_regulation_%20_of_%20_interferon-gamma_%20_production_%20_(GO:0032649)_%7C_response_%20_to_%20_type_%20_I_%20_interferon_%20_(GO:0034340)_%7C_type_%20_I_%20_interferon_%20_signaling_%20_pathway_%20_(GO:0060337)_%7C_viral_%20_process_%20_(GO:0016032)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|protein_%20_tag_%20_(GO:0031386)||||true|false|0.09704_%2C_0.903|false|false|1||false|true|false|ISG15:9636|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4615788|948870|false|false|0|true|0|false|0.139021_%2C_0.860979|false|false|true|SNV|true|0x05010040000515053e000100|1|false|111|rs4615788|] -chr1 948921 rs15842 T C 3295.69 PASS FUNCOTATION=[ISG15|hg19|chr1|948921|948921|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:948921T>C|ENST00000379389.4|+|1|||||0.6134663341645885|TACAGGAGCTTGTGCCGTGGC|RP11-54O7.11_ENST00000458555.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M21786|NM_005101.3|NP_005092.1|HGNC:4053|ISG15_%20_ubiquitin-like_%20_modifier|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|G1P2|"interferon_%2C__%20_alpha-inducible_%20_protein_%20_(clone_%20_IFI-15K)"|IFI15_%2C__%20_UCRP||1p36.33|2015-08-25|2006-04-28|2006-04-28|BC009507||9636|ENSG00000187608|3087979|NM_005101|||CCDS6|OTTHUMG00000040777|9636|147571|NM_005101|P05161|ENSG00000187608|uc001acj.5|ISG15_HUMAN||Q5SVA4_%7C_Q7Z2G2_%7C_Q96GF0|P05161|cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_defense_%20_response_%20_to_%20_bacterium_%20_(GO:0042742)_%7C_defense_%20_response_%20_to_%20_virus_%20_(GO:0051607)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_ISG15-protein_%20_conjugation_%20_(GO:0032020)_%7C_modification-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0019941)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032480)_%7C_negative_%20_regulation_%20_of_%20_viral_%20_genome_%20_replication_%20_(GO:0045071)_%7C_positive_%20_regulation_%20_of_%20_erythrocyte_%20_differentiation_%20_(GO:0045648)_%7C_regulation_%20_of_%20_interferon-gamma_%20_production_%20_(GO:0032649)_%7C_response_%20_to_%20_type_%20_I_%20_interferon_%20_(GO:0034340)_%7C_type_%20_I_%20_interferon_%20_signaling_%20_pathway_%20_(GO:0060337)_%7C_viral_%20_process_%20_(GO:0016032)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|protein_%20_tag_%20_(GO:0031386)||||true|false|0.09685_%2C_0.9032_%2C_.|false|false|1||false|true|false|ISG15:9636|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|15842|948921|true|false|0|true|0|false|0.138608_%2C_0.861392_%2C_.|false|false|true|SNV|true|0x05012840000515053f000100|1|false|52|rs15842|] -chr1 1009478 rs9442367 G C 2779.69 PASS FUNCOTATION=[RNF223|hg19|chr1|1009478|1009478|FIVE_PRIME_UTR||SNP|G|G|C|g.chr1:1009478G>C|ENST00000453464.2|-|1|||||0.6932668329177057|CTGCCCTGCCGTGGCAGTGTC||||||||||||||||||||||||||||||||||AL390719|NM_001205252.1|NP_001192181.1|HGNC:40020|ring_%20_finger_%20_protein_%20_223|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.33|2015-09-09|||||401934|ENSG00000237330||NM_001205252|58|Ring_%20_finger_%20_proteins|CCDS53257|OTTHUMG00000185582|401934||NM_001205252|E7ERA6|ENSG00000237330|uc021oen.2|RN223_HUMAN||B4DKI4|E7ERA6||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.1867_%2C_0.8133|false|false|1||false|true|true|RNF223:401934|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|9442367|1009478|false|false|0|true|0|false|0.224466_%2C_0.775534|false|false|true|SNV|true|0x05010040000517013e000100|1|false|119|rs9442367|] -chr1 1027070 rs11260590 G A 184.25 PASS FUNCOTATION=[C1orf159|hg19|chr1|1027070|1027070|INTRON||SNP|G|G|A|g.chr1:1027070G>A|ENST00000379339.1|-|||c.e4+125C>T|||0.6708229426433915|GGAGGGCAGAGCCAAATGGAG|C1orf159_ENST00000421241.2_INTRON/C1orf159_ENST00000379319.1_INTRON/C1orf159_ENST00000379320.1_FIVE_PRIME_UTR/C1orf159_ENST00000448924.1_INTRON/C1orf159_ENST00000294576.5_INTRON/C1orf159_ENST00000437760.1_INTRON/C1orf159_ENST00000482816.1_INTRON|||||||||||||||||||||||||||||||||BC008788|||HGNC:26062|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_159|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ20584||1p36.33|2016-09-30|||AK128434||54991|ENSG00000131591|12975309|NM_017891|||CCDS7_%2C__%20_CCDS81250|OTTHUMG00000000745|54991||NM_017891|Q96HA4|ENSG00000131591|uc001acu.3|CA159_HUMAN||B3KQ46_%7C_Q5T2W6_%7C_Q6UX67_%7C_Q6ZR77_%7C_Q9NWV0|Q96HA4||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.8105_%2C_0.1895|false|false|1||false|true|true|C1orf159:54991|true|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11260590|1027070|false|false|0|true|0|false|0.785597_%2C_0.214403|false|false|false|SNV|true|0x050100080005170136000100|1|false|120|rs11260590|] -chr1 1260009 . A AC 290.29 PASS FUNCOTATION=[CPSF3L|hg19|chr1|1260009|1260010|FIVE_PRIME_UTR||INS|-|-|C|g.chr1:1260009_1260010insC|ENST00000435064.1|-|1|||||0.7625|CGCTCCCGGACCCGCGAGGC|CPSF3L_ENST00000421495.2_FIVE_PRIME_UTR/CPSF3L_ENST00000450926.2_FIVE_PRIME_UTR/CPSF3L_ENST00000411962.1_FIVE_PRIME_UTR/CPSF3L_ENST00000419704.1_FIVE_PRIME_UTR/CPSF3L_ENST00000545578.1_FIVE_PRIME_UTR/GLTPD1_ENST00000343938.4_FIVE_PRIME_FLANK/CPSF3L_ENST00000540437.1_FIVE_PRIME_FLANK/GLTPD1_ENST00000464957.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|CPTP:80772_%7C_CPSF3L:54973_%7C_GLTPD1:80772|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|575875502|1260009|false|false|0|false|0|false|0.991243_%2C_0.00875747|false|false|true|DIV|true|0x050000420005040002000200|1|false|142|rs575875502|] -chr1 1260168 rs61766199 C A 1816.69 PASS FUNCOTATION=[GLTPD1|hg19|chr1|1260168|1260168|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:1260168C>A|ENST00000343938.4|+|1|||||0.7605985037406484|GAGGGCGGGGCGGTGGGCGGG|CPSF3L_ENST00000411962.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000419704.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000421495.2_FIVE_PRIME_FLANK/CPSF3L_ENST00000435064.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000450926.2_FIVE_PRIME_FLANK/CPSF3L_ENST00000540437.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000545578.1_FIVE_PRIME_FLANK/GLTPD1_ENST00000464957.1_INTRON|||||||||||||||||||||||||||||||||JN542538|NM_001029885.1|NP_001025056.1||||||||||||||||||||||||||||||CPTP_HUMAN||Q4G0E6_%7C_Q7L5A4|Q5TA50|ceramide_%20_1-phosphate_%20_transport_%20_(GO:1902389)|endosome_%20_(GO:0005768)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ceramide_%20_1-phosphate_%20_binding_%20_(GO:1902387)_%7C_ceramide_%20_1-phosphate_%20_transporter_%20_activity_%20_(GO:1902388)_%7C_glycolipid_%20_binding_%20_(GO:0051861)_%7C_phospholipid_%20_binding_%20_(GO:0005543)_%7C_phospholipid_%20_transporter_%20_activity_%20_(GO:0005548)||||true|false|0.2911_%2C_0.7089|false|false|1||false|true|true|CPTP:80772_%7C_CPSF3L:54973_%7C_GLTPD1:80772|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|61766199|1260168|false|false|0|true|0|false|0.328697_%2C_0.671303|false|false|true|SNV|true|0x050100420005170136000100|1|false|129|rs61766199|] -chr1 1284490 rs150789461 G A 3031.69 PASS FUNCOTATION=[DVL1|hg19|chr1|1284490|1284490|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:1284490G>A|ENST00000378888.5|-|1|||||0.7805486284289277|GCCCGGCCCGGGGCTCGGACG|DVL1_ENST00000378891.5_FIVE_PRIME_UTR|||||||||||||||||||||||||683|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL139287|||HGNC:3084|dishevelled_%20_segment_%20_polarity_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dishevelled_%20_1_%20_(homologous_%20_to_%20_Drosophila_%20_dsh)"_%2C__%20_"dishevelled_%2C__%20_dsh_%20_homolog_%20_1_%20_(Drosophila)"|||1p36.33|2016-10-05||2013-05-22|AF006011||1855|ENSG00000107404|8817329|NM_004421|505_%7C_1220|Dishevelled_%20_segment_%20_polarity_%20_proteins_%7C_PDZ_%20_domain_%20_containing|CCDS22_%2C__%20_CCDS81252|OTTHUMG00000003069|1855|601365|NM_004421|O14640|ENSG00000107404|uc002quu.4|DVL1_HUMAN||Q5TA33_%7C_Q5TA35|O14640|axon_%20_extension_%20_(GO:0048675)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0060070)_%7C_cochlea_%20_morphogenesis_%20_(GO:0090103)_%7C_collateral_%20_sprouting_%20_(GO:0048668)_%7C_convergent_%20_extension_%20_(GO:0060026)_%7C_convergent_%20_extension_%20_involved_%20_in_%20_neural_%20_plate_%20_elongation_%20_(GO:0022007)_%7C_cytoplasmic_%20_microtubule_%20_organization_%20_(GO:0031122)_%7C_dendrite_%20_morphogenesis_%20_(GO:0048813)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_neural_%20_tube_%20_development_%20_(GO:0021915)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_secretion_%20_(GO:0007269)_%7C_planar_%20_cell_%20_polarity_%20_pathway_%20_involved_%20_in_%20_neural_%20_tube_%20_closure_%20_(GO:0090179)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_projection_%20_development_%20_(GO:0010976)_%7C_positive_%20_regulation_%20_of_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0032436)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_prepulse_%20_inhibition_%20_(GO:0060134)_%7C_protein_%20_localization_%20_to_%20_microtubule_%20_(GO:0035372)_%7C_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:0034504)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_regulation_%20_of_%20_neurotransmitter_%20_levels_%20_(GO:0001505)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)_%7C_social_%20_behavior_%20_(GO:0035176)_%7C_synapse_%20_organization_%20_(GO:0050808)_%7C_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006366)_%7C_Wnt_%20_signaling_%20_pathway_%2C__%20_planar_%20_cell_%20_polarity_%20_pathway_%20_(GO:0060071)|axon_%20_(GO:0030424)_%7C_cell_%20_cortex_%20_(GO:0005938)_%7C_clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_cytoplasmic_%20_membrane-bounded_%20_vesicle_%20_(GO:0016023)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_dendrite_%20_(GO:0030425)_%7C_growth_%20_cone_%20_(GO:0030426)_%7C_microtubule_%20_(GO:0005874)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|enzyme_%20_binding_%20_(GO:0019899)_%7C_frizzled_%20_binding_%20_(GO:0005109)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rac_%20_GTPase_%20_binding_%20_(GO:0048365)||||true|false|0.237_%2C_0.763|false|false|1||false|true|true|LOC101929103:101929103_%7C_DVL1:1855|false|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|150789461|1284490|false|false|0|true|0|false|0.238048_%2C_0.761952|false|false|true|SNV|true|0x050100440005170036000100|1|false|134|rs150789461|] -chr1 1558792 rs12755088 T C 3564.69 PASS FUNCOTATION=[MIB2|hg19|chr1|1558792|1558792|MISSENSE||SNP|T|T|C|g.chr1:1558792T>C|ENST00000505820.2|+|3|322|c.305T>C|c.(304-306)aTg>aCg|p.M102T|0.7281795511221946|CGGCCCACCATGGACCCCTCT|MIB2_ENST00000520777.1_MISSENSE_p.M102T/MIB2_ENST00000504599.1_START_CODON_SNP_p.M1T/MIB2_ENST00000355826.5_INTRON/MIB2_ENST00000378708.1_INTRON/MIB2_ENST00000518681.1_MISSENSE_p.M102T/MIB2_ENST00000378712.1_INTRON/MIB2_ENST00000357210.4_MISSENSE_p.M45T/MIB2_ENST00000360522.4_MISSENSE_p.M45T/MIB2_ENST00000378710.3_MISSENSE_p.M45T/MIB2_ENST00000512004.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC037542|||HGNC:30577|mindbomb_%20_E3_%20_ubiquitin_%20_protein_%20_ligase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZZANK1|"zinc_%20_finger_%2C__%20_ZZ_%20_type_%20_with_%20_ankyrin_%20_repeat_%20_domain_%20_1"_%2C__%20_"mindbomb_%20_homolog_%20_2_%20_(Drosophila)"|skeletrophin_%2C__%20_ZZZ5_%2C__%20_FLJ39787||1p36.33|2016-04-25|2005-04-01|2012-02-23|AK097106||142678|ENSG00000197530|12761501|NM_080875|91_%7C_403|Zinc_%20_fingers_%20_ZZ-type_%7C_Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS41224_%2C__%20_CCDS53261_%2C__%20_CCDS53262_%2C__%20_CCDS53263_%2C__%20_CCDS53264|OTTHUMG00000074647|142678|611141|NM_001170686|Q96AX9|ENSG00000197530|uc001agg.4|MIB2_HUMAN||A2AGM5_%7C_A2AGM6_%7C_B3KV93_%7C_B3KVF4_%7C_B3KXY1_%7C_B4DZ57_%7C_E9PGU1_%7C_E9PHQ1_%7C_F8WA73_%7C_J3KNZ7_%7C_Q7Z437_%7C_Q8IY62_%7C_Q8N786_%7C_Q8N897_%7C_Q8N8R2_%7C_Q8N911_%7C_Q8NB36_%7C_Q8NCY1_%7C_Q8NG59_%7C_Q8NG60_%7C_Q8NG61_%7C_Q8NI59_%7C_Q8WYN1|Q96AX9|Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)|early_%20_endosome_%20_(GO:0005769)_%7C_ubiquitin_%20_ligase_%20_complex_%20_(GO:0000151)|ligase_%20_activity_%20_(GO:0016874)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.2264_%2C_0.7736_%2C_.|false|false|1||false|true|false|MIB2:142678|true|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|12755088|1558792|false|false|0|true|0|false||false|false|false|SNV|true|0x050100080a0515053e000100|1|false|121|rs12755088|] -chr1 1640294 rs199942750 TTCCTCCTCC T 679.91 PASS FUNCOTATION=[CDK11A|hg19|chr1|1640295|1640303|IN_FRAME_DEL||DEL|TCCTCCTCC|TCCTCCTCC|-|g.chr1:1640295_1640303delTCCTCCTCC|ENST00000358779.5|-|9|992_1000|c.903_911delGGAGGAGGA|c.(901-912)gaggaggaggaa>gaa|p.EEE302del|0.5794621026894865|CTCTTCCTCTTCCTCCTCCTCCTCCTCTG|CDK11A_ENST00000356200.3_IN_FRAME_DEL_p.EEE278del/CDK11A_ENST00000378633.1_IN_FRAME_DEL_p.EEE315del/CDK11A_ENST00000404249.3_IN_FRAME_DEL_p.EEE312del/CDK11A_ENST00000357760.2_IN_FRAME_DEL_p.EEE311del/CDK11A_ENST00000378638.2_IN_FRAME_DEL_p.EEE278del/CDK11A_ENST00000378635.3_THREE_PRIME_UTR/RP1-283E3.8_ENST00000598846.1_RNA/CDK11A_ENST00000495016.1_FIVE_PRIME_FLANK|Pancreas(186_%3B_965_%20_2119_%20_30274_%20_40311_%20_50569)||||||||||||||||||||||||15|oesophagus(1)_%7C_stomach(14)|||||||U07705|NM_033529.2|NP_277071.2|HGNC:1730|cyclin_%20_dependent_%20_kinase_%20_11A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CDC2L3_%2C__%20_CDC2L2|"cell_%20_division_%20_cycle_%20_2-like_%20_2"_%2C__%20_"cell_%20_division_%20_cycle_%20_2-like_%20_2_%20_(PITSLRE_%20_proteins)"|PITSLRE_%2C__%20_CDK11-p110_%2C__%20_CDK11-p58_%2C__%20_CDK11-p46_%2C__%20_p58GTA||1p36.33|2016-06-08|2009-12-16|2016-06-08|AF067522||728642|ENSG00000008128|7920654_%2C__%20_9750192_%2C__%20_19884882|NM_024011|496|Cyclin_%20_dependent_%20_kinases|CCDS44042_%2C__%20_CCDS44043_%2C__%20_CCDS81253_%2C__%20_CCDS81254|OTTHUMG00000000703|728642|116951|NM_001313896|Q9UQ88|ENSG00000008128|uc009vks.4|CD11A_HUMAN||O95227_%7C_O95228_%7C_O96012_%7C_Q12821_%7C_Q12853_%7C_Q12854_%7C_Q2TAJ0_%7C_Q5QPR0_%7C_Q5QPR1_%7C_Q5QPR2_%7C_Q9UBC4_%7C_Q9UBI3_%7C_Q9UEI1_%7C_Q9UEI2_%7C_Q9UP53_%7C_Q9UP54_%7C_Q9UP55_%7C_Q9UP56_%7C_Q9UQ86_%7C_Q9UQ87_%7C_Q9UQ89|Q9UQ88|apoptotic_%20_process_%20_(GO:0006915)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0001558)_%7C_regulation_%20_of_%20_mRNA_%20_processing_%20_(GO:0050684)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004693)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||true|false||false|false|||false|false|false|CDK11A:728642|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|199942750|1640295|false|false|0|false|0|false||false|false|false|DIV|false|0x05000000000500001e000200|1|false|137|rs199942750|] -chr1 1684347 rs150880809 C CCCT 1136.16 PASS FUNCOTATION=[NADK|hg19|chr1|1684347|1684348|IN_FRAME_INS||INS|-|-|CCT|g.chr1:1684347_1684348insCCT|ENST00000344463.4|-|14|1994|c.1771_1772insAGG|c.(1771-1773)ggc>gAGGgc|p.590_591insE|0.5825|TTGACCTAGCCCTCCTCCTC|NADK_ENST00000378625.1_IN_FRAME_INS_p.590_591insE/NADK_ENST00000341426.5_IN_FRAME_INS_p.445_446insE/NADK_ENST00000341991.3_IN_FRAME_INS_p.445_446insE/NADK_ENST00000342348.5_IN_FRAME_INS_p.413_414insE|||||||||||||||||||||||||45|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_salivary_gland(1)|||||||CH471183|||HGNC:29831|NAD_%20_kinase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13052||1p36.33|2014-11-19|||BC001709|2.7.1.23|65220|ENSG00000008130|11594753|NM_023018|||CCDS30565_%2C__%20_CCDS55561_%2C__%20_CCDS55562|OTTHUMG00000000942|65220|611616|NM_001198993|O95544|ENSG00000008130|uc001aid.5|NADK_HUMAN||A6NNN3_%7C_A8K296_%7C_B7Z434_%7C_F5GXR5_%7C_Q5QPS4_%7C_Q9H2P2_%7C_Q9H931|O95544|ATP_%20_metabolic_%20_process_%20_(GO:0046034)_%7C_NAD_%20_metabolic_%20_process_%20_(GO:0019674)_%7C_NADP_%20_biosynthetic_%20_process_%20_(GO:0006741)_%7C_phosphorylation_%20_(GO:0016310)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)|ATP_%20_binding_%20_(GO:0005524)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_NAD+_%20_kinase_%20_activity_%20_(GO:0003951)|_%7C__%7C_|_%7C__%7C_|_%7C__%7C_|true_%7C_true_%7C_true|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|NADK:65220_%7C_NADK:65220_%7C_NADK:65220|false_%7C_true_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|true_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|150880809_%7C_71578334_%7C_765479702|1684347_%7C_1684349_%7C_1684350|false_%7C_false_%7C_false|false_%7C_false_%7C_false|0_%7C_0_%7C_0|false_%7C_true_%7C_false|0_%7C_0_%7C_0|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|DIV_%7C_DIV_%7C_DIV|true_%7C_false_%7C_false|0x05000000000504000e000204_%7C_0x050100000005000102000200_%7C_0x050000000005000002000200|1_%7C_1_%7C_1|false_%7C_false_%7C_false|134_%7C_130_%7C_144|rs150880809_%7C_rs71578334_%7C_rs765479702|_%7C__%7C_] -chr1 1850627 . CAGCGGCAGG C 711.12 PASS FUNCOTATION=[TMEM52|hg19|chr1|1850628|1850636|IN_FRAME_DEL||DEL|AGCGGCAGG|AGCGGCAGG|-|g.chr1:1850628_1850636delAGCGGCAGG|ENST00000310991.3|-|1|86_94|c.69_77delCCTGCCGCT|c.(67-78)ctcctgccgctg>ctg|p.LPL24del|0.7481662591687042|CACCTGCGGCAGCGGCAGGAGCGGCAGGA|TMEM52_ENST00000378602.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AY358544|NM_178545.3|NP_848640.1|HGNC:27916|transmembrane_%20_protein_%20_52|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.33|2014-11-19|||AJ278736||339456|ENSG00000178821||NM_178545|||CCDS35|OTTHUMG00000000944|339456||NM_178545|Q8NDY8|ENSG00000178821|uc001aij.3|TMM52_HUMAN||Q4VXS6_%7C_Q6UX25|Q8NDY8||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.641_%2C_0.359|false|false|1||false|true|true|TMEM52:339456|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|575852588|1850628|false|false|0|false|0|false||false|false|false|DIV|true|0x050000000005170026000200|1|false|142|rs575852588|] -chr1 2258590 rs149761185 A AACAC 660.88 PASS FUNCOTATION=[MORN1|hg19|chr1|2258590|2258591|INTRON||INS|-|-|ACAC|g.chr1:2258590_2258591insACAC|ENST00000378531.3|-|||c.e13+3008T>GTGTT|||0.4275|AGACACAGAAACAGAAACAC|AL589739.1_ENST00000600779.1_FRAME_SHIFT_INS_p.R5fs/RP4-713A8.1_ENST00000607720.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089||||_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.2077_%2C_0.7921_%7C_0.2077_%2C_0.7921|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|MORN1:79906_%7C_MORN1:79906|false_%7C_false|false_%7C_false|true_%7C_true|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|149761185_%7C_61135926|2258590_%7C_2258593|false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05000008000517002e000200_%7C_0x050000080005000002000200|1_%7C_1|false_%7C_false|134_%7C_129|rs149761185_%7C_rs61135926|_%7C_] -chr1 2258626 rs144331124 CAG C 138.25 PASS FUNCOTATION=[MORN1|hg19|chr1|2258627|2258628|INTRON||DEL|AG|AG|-|g.chr1:2258627_2258628delAG|ENST00000378531.3|-|||c.e13+3044CTG>G|||0.39800995024875624|ACAGAGACACAGAGACACAGAA|AL589739.1_ENST00000600779.1_FRAME_SHIFT_DEL_p.R17fs/RP4-713A8.1_ENST00000607720.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.8407_%2C_0.1593|false|false|1||false|true|false|MORN1:79906|false|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|144331124|2258627|false|false|0|false|0|false||false|false|false|DIV|true|0x05000008000515003e000200|1|false|134|rs144331124|] -chr1 2258946 rs59142249 C CA 326.29 PASS FUNCOTATION=[MORN1|hg19|chr1|2258946|2258947|INTRON||INS|-|-|A|g.chr1:2258946_2258947insA|ENST00000378531.3|-|||c.e13+3364G>TG|||0.5075|AAACAAACACAGAGACACAG|AL589739.1_ENST00000600779.1_FRAME_SHIFT_INS_p.R123fs/RP4-713A8.1_ENST00000607720.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089||||_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|MORN1:79906_%7C_MORN1:79906|false_%7C_false|false_%7C_false|true_%7C_true|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|59142249_%7C_397940423|2258946_%7C_2258947|false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|0_%7C_0|false_%7C_false|0.755924_%2C_0.244076_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05000008000507001e000200_%7C_0x050000080005000002000200|1_%7C_1|false_%7C_false|138_%7C_138|rs59142249_%7C_rs397940423|_%7C_] -chr1 2938407 rs4013154 CAGA C 648.25 PASS FUNCOTATION=[ACTRT2|hg19|chr1|2938408|2938410|IN_FRAME_DEL||DEL|AGA|AGA|-|g.chr1:2938408_2938410delAGA|ENST00000378404.2|+|1|362_364|c.158_160delAGA|c.(157-162)cagaag>cag|p.K54del|0.5905707196029777|GAGGCCAACCAGAAGAAGTACTT||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471248|NM_080431.4|NP_536356.3|HGNC:24026|actin_%20_related_%20_protein_%20_T2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Arp-T2_%2C__%20_ARPM2_%2C__%20_FLJ25424||1p36.32|2016-10-05||2015-12-01|AF440740_%2C__%20_AB057364||140625|ENSG00000169717|11750065_%2C__%20_12243744|NM_080431|1436|Actin_%20_related_%20_proteins|CCDS45|OTTHUMG00000000562|140625|608535|NM_080431|Q8TDY3|ENSG00000169717|uc001ajz.4|ACTT2_HUMAN||B1AN52_%7C_Q8NHS6_%7C_Q8TDG1|Q8TDY3||cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)|||||true|false|0.8876_%2C_0.1124|false|false|1||false|true|false|ACTRT2:140625|false|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4013154|2938408|true|false|0|false|0|false|0.890652_%2C_0.109348|false|false|false|DIV|true|0x05000000000515003e000200|1|false|108|rs4013154|] -chr1 6509021 . GCCACCGCCGCCC G 897.25 PASS FUNCOTATION=[ESPN|hg19|chr1|6509022|6509033|IN_FRAME_DEL||DEL|CCACCGCCGCCC|CCACCGCCGCCC|-|g.chr1:6509022_6509033delCCACCGCCGCCC|ENST00000377828.1|+|8|1953_1964|c.1786_1797delCCACCGCCGCCC|c.(1786-1797)ccaccgccgcccdel|p.PPPP596del|0.7718446601941747|CAGGGAGCTGCCACCGCCGCCCCCACCGCCGC|ESPN_ENST00000461727.1_IN_FRAME_DEL_p.PPPP30del/ESPN_ENST00000416731.1_IN_FRAME_DEL_p.PPPP30del/ESPN_ENST00000475228.1_INTRON/RP1-202O8.2_ENST00000419034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(12)_%7C_pancreas(22)|||||||CH471130|NM_031475.2|NP_113663.2|HGNC:13281|espin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DFNB36|"deafness_%2C__%20_autosomal_%20_recessive_%20_36"|||1p36.31|2014-11-19|||AF134401||83715|ENSG00000187017|10975527_%2C__%20_15286153|NM_031475|1152_%7C_403|Deafness_%20_associated_%20_genes_%7C_Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS70|OTTHUMG00000000753|83715|606351|NM_031475|B1AK53|ENSG00000187017|uc001amy.3|ESPN_HUMAN||Q6XYB2_%7C_Q9H0A2_%7C_Q9Y329|B1AK53|locomotory_%20_behavior_%20_(GO:0007626)_%7C_negative_%20_regulation_%20_of_%20_cytoskeleton_%20_organization_%20_(GO:0051494)_%7C_parallel_%20_actin_%20_filament_%20_bundle_%20_assembly_%20_(GO:0030046)_%7C_positive_%20_regulation_%20_of_%20_filopodium_%20_assembly_%20_(GO:0051491)_%7C_sensory_%20_perception_%20_of_%20_sound_%20_(GO:0007605)|brush_%20_border_%20_(GO:0005903)_%7C_cytoplasm_%20_(GO:0005737)_%7C_filamentous_%20_actin_%20_(GO:0031941)_%7C_microvillus_%20_(GO:0005902)_%7C_stereocilium_%20_bundle_%20_tip_%20_(GO:0032426)|actin_%20_filament_%20_binding_%20_(GO:0051015)_%7C_SH3_%20_domain_%20_binding_%20_(GO:0017124)||||true|false|0.9984_%2C_0.001597|false|false|0||false|false|false|ESPN:83715|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|548962140|6509022|false|false|0|false|0|false|0.997047_%2C_0.0029535|false|false|false|DIV|true|0x050000000005040026000200|1|false|142|rs548962140|] -chr1 7913430 rs228648 G A 1998.91 PASS FUNCOTATION=[UTS2|hg19|chr1|7913430|7913430|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr1:7913430G>A|ENST00000377516.2|-|1|||||0.3566084788029925|GCAAAGAGACGTGGATTTATG|UTS2_ENST00000054668.5_MISSENSE_p.T21M/UTS2_ENST00000361696.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:12636|urotensin_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||UII_%2C__%20_U-II_%2C__%20_UCN2_%2C__%20_PRO1068|"prepro_%20_U-II"|1p36.23|2016-10-05|||AF104118||10911|ENSG00000049247|9861051_%2C__%20_10499587|NM_006786|542|Endogenous_%20_ligands|CCDS90_%2C__%20_CCDS91|OTTHUMG00000001218|10911|604097|NM_006786|O95399|ENSG00000049247|uc001aos.4|UTS2_HUMAN||Q5H8X7_%7C_Q6UXF6_%7C_Q9UKP7|O95399|muscle_%20_contraction_%20_(GO:0006936)_%7C_negative_%20_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0045776)_%7C_negative_%20_regulation_%20_of_%20_glomerular_%20_filtration_%20_(GO:0003105)_%7C_negative_%20_regulation_%20_of_%20_heart_%20_rate_%20_(GO:0010459)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_secretion_%20_(GO:0046676)_%7C_negative_%20_regulation_%20_of_%20_renal_%20_sodium_%20_excretion_%20_(GO:0035814)_%7C_negative_%20_regulation_%20_of_%20_urine_%20_volume_%20_(GO:0035811)_%7C_positive_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0045766)_%7C_positive_%20_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0045777)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045597)_%7C_positive_%20_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_REM_%20_sleep_%20_(GO:0046005)_%7C_positive_%20_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_wakefulness_%20_(GO:0010841)_%7C_positive_%20_regulation_%20_of_%20_collagen_%20_biosynthetic_%20_process_%20_(GO:0032967)_%7C_positive_%20_regulation_%20_of_%20_cytosolic_%20_calcium_%20_ion_%20_concentration_%20_(GO:0007204)_%7C_positive_%20_regulation_%20_of_%20_fibroblast_%20_migration_%20_(GO:0010763)_%7C_positive_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048146)_%7C_positive_%20_regulation_%20_of_%20_heart_%20_rate_%20_(GO:0010460)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_transmission_%2C__%20_cholinergic_%20_(GO:0032224)_%7C_positive_%20_regulation_%20_of_%20_vasodilation_%20_(GO:0045909)_%7C_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_response_%20_to_%20_testosterone_%20_(GO:0033574)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|hormone_%20_activity_%20_(GO:0005179)_%7C_receptor_%20_binding_%20_(GO:0005102)||||true|false|0.5216_%2C_0.4784|false|false|1||false|true|true|UTS2:10911|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|true|true|228648|7913430|false|false|0|true|0|false|0.476578_%2C_0.523422|false|false|false|SNV|true|0x050128020a0517053f000101|1|false|79|rs228648|] -chr1 11593793 rs113116961 T TGCACACACGCAC 4110.93 PASS FUNCOTATION=[PTCHD2|hg19|chr1|11593793|11593794|INTRON||INS|-|-|GCACACACGCAC|g.chr1:11593793_11593794insGCACACACGCAC|ENST00000294484.6|+|||c.e18-645T>TGCACACACGCAC|||0.5625|AGACACGCATGCACACACAC|PTCHD2_ENST00000304391.6_FIVE_PRIME_UTR/PTCHD2_ENST00000389575.3_INTRON|||||||||||||||||||||||||170|biliary_tract(2)_%7C_breast(1)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_lung(4)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(5)|||||||AL590989|NM_020780.1|NP_065831.1||||||||||||||||||||||||||||||PTHD2_HUMAN||Q5VTU9_%7C_Q9UJD6|Q9P2K9|cholesterol_%20_homeostasis_%20_(GO:0042632)_%7C_regulation_%20_of_%20_lipid_%20_transport_%20_(GO:0032368)_%7C_smoothened_%20_signaling_%20_pathway_%20_(GO:0007224)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nuclear_%20_membrane_%20_(GO:0031965)|hedgehog_%20_receptor_%20_activity_%20_(GO:0008158)||||true|false|0.2478_%2C_0.3878|false|false|1||false|false|false|DISP3:57540_%7C_PTCHD2:57540|true|false|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|113116961|11593793|false|false|0|true|0|false||false|false|false|DIV|true|0x05010008000514012e000200|1|false|132|rs113116961|] -chr1 11710779 rs148874459 C CGCG 492.29 PASS FUNCOTATION=[FBXO2|hg19|chr1|11710779|11710780|IN_FRAME_INS||INS|-|-|GCG|g.chr1:11710779_11710780insGCG|ENST00000354287.4|-|2|477|c.134_135insCGC|c.(133-135)gcg>gcCGCg|p.45_46insA|0.7275|GTCCAGGTACGCGGCGGCGG|FBXO44_ENST00000251546.4_FIVE_PRIME_FLANK/FBXO44_ENST00000251547.5_FIVE_PRIME_FLANK/FBXO44_ENST00000376760.1_FIVE_PRIME_FLANK/FBXO44_ENST00000376762.4_FIVE_PRIME_FLANK/FBXO44_ENST00000376768.1_FIVE_PRIME_FLANK/FBXO44_ENST00000376770.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||271|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR542110|NM_012168.5|NP_036300.2|HGNC:13581|F-box_%20_protein_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|OCP1|"F-box_%20_only_%20_protein_%20_2"_%2C__%20_"organ_%20_of_%20_Corti_%20_protein_%20_1"|FBX2_%2C__%20_Nfb42_%2C__%20_Fbs1_%2C__%20_Fbg1||1p36.22|2016-10-05||2004-06-15|AF174594||26232|ENSG00000116661|10531035_%2C__%20_10531037|NM_012168|560|F-boxes_%20_other|CCDS130|OTTHUMG00000002072|26232|607112|NM_012168|Q9UK22|ENSG00000116661|uc001asj.4|FBX2_HUMAN||B2R7K7_%7C_Q5TGY0_%7C_Q6FGJ7_%7C_Q8TB29_%7C_Q9UKC6|Q9UK22|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)_%7C_ER-associated_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0030433)_%7C_glycoprotein_%20_catabolic_%20_process_%20_(GO:0006516)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)_%7C_proteolysis_%20_(GO:0006508)_%7C_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031396)_%7C_SCF-dependent_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0031146)|cytosol_%20_(GO:0005829)_%7C_dendritic_%20_spine_%20_(GO:0043197)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_SCF_%20_ubiquitin_%20_ligase_%20_complex_%20_(GO:0019005)|beta-amyloid_%20_binding_%20_(GO:0001540)_%7C_carbohydrate_%20_binding_%20_(GO:0030246)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.6534_%2C_0.3103_%7C_0.6534_%2C_0.3103|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|false_%7C_true|false_%7C_true|FBXO2:26232_%7C_FBXO2:26232|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|148874459_%7C_538764329|11710779_%7C_11710782|false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_true|0x05000000000504000e000200_%7C_0x050000000005170024000200|1_%7C_1|false_%7C_false|134_%7C_142|rs148874459_%7C_rs538764329|_%7C_] -chr1 11844520 rs41275466 C T 492.25 PASS FUNCOTATION=[C1orf167|hg19|chr1|11844520|11844520|NONSENSE||SNP|C|C|T|g.chr1:11844520C>T|ENST00000433342.1|+|15|3367|c.3367C>T|c.(3367-3369)Cag>Tag|p.Q1123*|0.6733167082294265|CCATGAGGCCCAGCAGCAGGC|RP11-56N19.5_ENST00000376620.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AL953897|||HGNC:25262|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_167|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||DKFZp434E1410_%2C__%20_RP11-56N19.2||1p36.22|2016-09-30|||AL834308||284498|ENSG00000215910|12370778|||||OTTHUMG00000002228|284498||NM_001010881|Q5SNV9|ENSG00000215910|uc057chg.1|CA167_HUMAN||Q8NDA9_%7C_Q8NDF3|Q5SNV9|||||||true|false|0.988_%2C_0.01198|false|false|1||false|false|false|C1orf167:284498|false|false|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|41275466|11844520|false|false|0|false|0|false|0.984683_%2C_0.015317|false|false|false|SNV|true|0x050000000605140036000100|1|false|127|rs41275466|] -chr1 11906068 rs5065 A G 569.25 PASS FUNCOTATION=[NPPA|hg19|chr1|11906068|11906068|NONSTOP||SNP|A|A|G|g.chr1:11906068A>G|ENST00000376480.3|-|3|553|c.454T>C|c.(454-456)Tga>Cga|p.*152R|0.4937655860349127|TGTTATCTTCAGTACTGCAAA|NPPA_ENST00000376476.1_NONSTOP_p.*102R/NPPA-AS1_ENST00000446542.1_RNA/NPPA-AS1_ENST00000400892.2_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X02558|NM_006172.3|NP_006163.1|HGNC:7939|natriuretic_%20_peptide_%20_A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ANP_%2C__%20_PND|"natriuretic_%20_peptide_%20_precursor_%20_A"|||1p36.22|2017-03-24||2010-11-09|BC005893||4878|ENSG00000175206||NM_006172|542|Endogenous_%20_ligands|CCDS139|OTTHUMG00000002388|4878|108780|NM_006172|P01160|ENSG00000175206|uc001ati.4|ANF_HUMAN||Q13766_%7C_Q5JZE1|P01160|cardiac_%20_muscle_%20_hypertrophy_%20_in_%20_response_%20_to_%20_stress_%20_(GO:0014898)_%7C_cellular_%20_response_%20_to_%20_mechanical_%20_stimulus_%20_(GO:0071260)_%7C_cGMP_%20_biosynthetic_%20_process_%20_(GO:0006182)_%7C_female_%20_pregnancy_%20_(GO:0007565)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_systemic_%20_arterial_%20_blood_%20_pressure_%20_(GO:0003085)_%7C_receptor_%20_guanylyl_%20_cyclase_%20_signaling_%20_pathway_%20_(GO:0007168)_%7C_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_regulation_%20_of_%20_blood_%20_vessel_%20_size_%20_(GO:0050880)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_response_%20_to_%20_insulin_%20_(GO:0032868)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_mast_%20_cell_%20_granule_%20_(GO:0042629)_%7C_nucleus_%20_(GO:0005634)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)|receptor_%20_binding_%20_(GO:0005102)||||true|false|0.8209_%2C_0.1791|false|false|1||false|true|false|NPPA:4878_%7C_NPPA-AS1:100379251|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|5065|11906068|false|false|0|true|0|false|0.737688_%2C_0.262312|true|false|false|SNV|true|0x05013808020515053f000100|1|false|52|rs5065|] -chr1 12980232 rs201674075 G A 447.12 PASS FUNCOTATION=[PRAMEF7|hg19|chr1|12980232|12980232|SILENT||SNP|G|G|A|g.chr1:12980232G>A|ENST00000361079.2|+|4|1507|c.1424G>A|c.(1423-1425)tGa>tAa|p.*475*|0.5411471321695761|TGCCTCTGTTGAATGCCTGCC|RNU6-1072P_ENST00000384703.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||98|lung(98)|||||||BC140755|||HGNC:28415|PRAME_%20_family_%20_member_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.21|2015-09-10|||||441871|ENSG00000204510||NM_001012277|686|PRAME_%20_family|CCDS30593|OTTHUMG00000001982|441871||NM_001012277|Q5VXH5|ENSG00000204510|uc057ckj.1|PRAM7_HUMAN||B9EIP0|Q5VXH5|negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045596)_%7C_negative_%20_regulation_%20_of_%20_retinoic_%20_acid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048387)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)||||||true|false||false|false|||false|false|false|PRAMEF7:441871|true|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|9328937|12980232|false|false|0|true|0|true||false|false|false|SNV|true|0x050100000305040516000100|1|false|119|rs9328937|] -chr1 14106394 rs2308040 A ACTC 1278.16 PASS FUNCOTATION=[PRDM2|hg19|chr1|14106394|14106395|IN_FRAME_INS||INS|-|-|CTC|g.chr1:14106394_14106395insCTC|ENST00000235372.7|+|8|2960|c.2104_2105insCTC|c.(2104-2106)act>aCTCct|p.702_703insP|0.4875|GATAAACTAACTCCTGCAGG|PRDM2_ENST00000413440.1_IN_FRAME_INS_p.501_502insP/PRDM2_ENST00000343137.4_IN_FRAME_INS_p.501_502insP/PRDM2_ENST00000376048.5_INTRON/PRDM2_ENST00000503842.1_INTRON/PRDM2_ENST00000505823.1_INTRON/PRDM2_ENST00000311066.5_IN_FRAME_INS_p.702_703insP|||||||||||||||||||||||||131|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_oesophagus(4)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_soft_tissue(11)_%7C_upper_aerodigestive_tract(1)|||||||U23736|NM_012231.4|NP_036363.2|HGNC:9347|PR/SET_%20_domain_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_2_%2C__%20_with_%20_ZNF_%20_domain"_%2C__%20_"PR_%20_domain_%20_2"|RIZ_%2C__%20_RIZ1_%2C__%20_RIZ2_%2C__%20_KMT8_%2C__%20_MTB-ZF_%2C__%20_HUMHOXY1_%2C__%20_KMT8A|"retinoblastoma_%20_protein-binding_%20_zinc_%20_finger_%20_protein"_%2C__%20_"retinoblastoma_%20_protein-interacting_%20_zinc_%20_finger_%20_protein"_%2C__%20_"MTE-binding_%20_protein"_%2C__%20_"zinc-finger_%20_DNA-binding_%20_protein"_%2C__%20_"GATA-3_%20_binding_%20_protein_%20_G3B"|1p36.21|2016-11-03||2016-07-18|U17838||7799|ENSG00000116731|7538672|NM_012231|487_%7C_1197|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family|CCDS150_%2C__%20_CCDS151_%2C__%20_CCDS30603_%2C__%20_CCDS44061|OTTHUMG00000007917|7799|601196|NM_001007257|Q13029|ENSG00000116731|uc001avi.3|PRDM2_HUMAN||B1AJZ4_%7C_B5MC68_%7C_Q13149_%7C_Q14550_%7C_Q5THJ1_%7C_Q5VUL9|Q13029|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_histone-lysine_%20_N-methyltransferase_%20_activity_%20_(GO:0018024)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|PRDM2:7799_%7C_PRDM2:7799|true_%7C_true|false_%7C_false|true_%7C_true|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|2308040_%7C_59028030|14106394_%7C_14106399|true_%7C_false|false_%7C_false|0_%7C_0|true_%7C_true|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05010008000507011e000200_%7C_0x050100080005000102000200|1_%7C_1|false_%7C_false|100_%7C_138|rs2308040_%7C_rs59028030|_%7C_] -chr1 15714854 . C CTCCCTCCCTCCCTCCCTCCT 171.30 PASS FUNCOTATION=[FHAD1|hg19|chr1|15714854|15714855|INTRON||INS|-|-|TCCCTCCCTCCCTCCCTCCT|g.chr1:15714854_15714855insTCCCTCCCTCCCTCCCTCCT|ENST00000375998.4|+|||c.e29+6165C>CTCCCTCCCTCCCTCCCTCCT|||0.6025|CTGCCCCACCTGCCTGCAGT|FHAD1_ENST00000358897.4_INTRON/FHAD1_ENST00000417793.1_INTRON/FHAD1_ENST00000375999.3_NONSTOP_p.A1448fs/FHAD1_ENST00000314740.8_INTRON/FHAD1_ENST00000471347.1_INTRON|||||||||||||||||||||||||69|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||AL391094|||HGNC:29408|forkhead_%20_associated_%20_phosphopeptide_%20_binding_%20_domain_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"forkhead-associated_%20_(FHA)_%20_phosphopeptide_%20_binding_%20_domain_%20_1"|KIAA1937||1p36.21|2016-06-21||2016-06-21|AK093300||114827|ENSG00000142621|11572484|NM_052929||||OTTHUMG00000002088|114827||NM_052929|B1AJZ9|ENSG00000142621|uc001awb.2|FHAD1_HUMAN||Q0P6F5_%7C_Q8N8D3_%7C_Q8N9T6_%7C_Q8NA05|B1AJZ9|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 15820307 rs2234723 A AC 439.29 PASS FUNCOTATION=[CASP9|hg19|chr1|15820307|15820308|INTRON||INS|-|-|C|g.chr1:15820307_15820308insC|ENST00000333868.5|-|||c.e8-80T>GT|||0.575|GCCCTGCTCACCCCAAATCC|CASP9_ENST00000546424.1_FRAME_SHIFT_INS_p.V413fs/CASP9_ENST00000348549.5_INTRON/CASP9_ENST00000375890.4_INTRON|||||||||||||||||||||||||703|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||U60521|||HGNC:1511|caspase_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"caspase_%20_9_%2C__%20_apoptosis-related_%20_cysteine_%20_protease"_%2C__%20_"caspase_%20_9_%2C__%20_apoptosis-related_%20_cysteine_%20_peptidase"|MCH6_%2C__%20_ICE-LAP6_%2C__%20_APAF-3_%2C__%20_PPP1R56|"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_56"|1p36.21|2016-04-25||2015-11-12|U60521|3.4.22.62|842|ENSG00000132906|8663294_%2C__%20_9390557|NM_032996|959_%7C_694_%7C_468_%7C_1341|Caspase_%20_recruitment_%20_domain_%20_containing_%7C_Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits_%7C_Caspases_%7C_Apoptosome|CCDS158_%2C__%20_CCDS159_%2C__%20_CCDS59995|OTTHUMG00000002256|842|602234|NM_001229|P55211|ENSG00000132906|uc001awn.5|CASP9_HUMAN||B4E1A3_%7C_O95348_%7C_Q53Y70_%7C_Q5JRU9_%7C_Q5UGI1_%7C_Q92852_%7C_Q9BQ62_%7C_Q9UEQ3_%7C_Q9UIJ8|P55211|activation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_by_%20_cytochrome_%20_c_%20_(GO:0008635)_%7C_aging_%20_(GO:0007568)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_dexamethasone_%20_stimulus_%20_(GO:0071549)_%7C_cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glial_%20_cell_%20_apoptotic_%20_process_%20_(GO:0034349)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097193)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_(GO:0008630)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_platelet_%20_formation_%20_(GO:0030220)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_regulation_%20_of_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:2001020)_%7C_response_%20_to_%20_antibiotic_%20_(GO:0046677)_%7C_response_%20_to_%20_cobalt_%20_ion_%20_(GO:0032025)_%7C_response_%20_to_%20_estradiol_%20_(GO:0032355)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)_%7C_signal_%20_transduction_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_(GO:0042770)|apoptosome_%20_(GO:0043293)_%7C_cytosol_%20_(GO:0005829)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|cysteine-type_%20_endopeptidase_%20_activity_%20_(GO:0004197)_%7C_enzyme_%20_activator_%20_activity_%20_(GO:0008047)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_SH3_%20_domain_%20_binding_%20_(GO:0017124)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.7642_%2C_0.2358_%7C_0.7642_%2C_0.2358|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|CASP9:842_%7C_CASP9:842|true_%7C_false|false_%7C_false|true_%7C_true|true_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_true|2234723_%7C_397776921|15820307_%7C_15820311|true_%7C_false|false_%7C_false|0_%7C_0|true_%7C_false|0_%7C_0|false_%7C_false|0.700426_%2C_0.299574_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05010008120517013e000201_%7C_0x050000081205000002000200|1_%7C_1|false_%7C_false|98_%7C_138|rs2234723_%7C_rs397776921|_%7C_] -chr1 16262475 . CTG C 13.26 PASS FUNCOTATION=[SPEN|hg19|chr1|16262476|16262477|FRAME_SHIFT_DEL||DEL|TG|TG|-|g.chr1:16262476_16262477delTG|ENST00000375759.3|+|11|9944_9945|c.9741_9742delTG|c.(9739-9744)cctgccfs|p.A3248fs|0.6393034825870647|CCCCCACCCCTGCCCCCGTCCC||||||||||||||||||||||||||1370|NS(200)_%7C_biliary_tract(2)_%7C_breast(210)_%7C_central_nervous_system(44)_%7C_endometrium(2)_%7C_haematopoietic_and_lymphoid_tissue(302)_%7C_kidney(141)_%7C_large_intestine(37)_%7C_lung(100)_%7C_oesophagus(13)_%7C_ovary(2)_%7C_pancreas(22)_%7C_prostate(26)_%7C_salivary_gland(212)_%7C_skin(1)_%7C_soft_tissue(8)_%7C_stomach(47)_%7C_upper_aerodigestive_tract(1)|||||||AL450998|NM_015001.2|NP_055816.2|HGNC:17575|spen_%20_family_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"SPEN_%20_homolog_%2C__%20_transcriptional_%20_regulator_%20_(Drosophila)"_%2C__%20_"spen_%20_homolog_%2C__%20_transcriptional_%20_regulator_%20_(Drosophila)"|KIAA0929_%2C__%20_MINT_%2C__%20_SHARP_%2C__%20_RBM15C||1p36.21-p36.13|2017-06-08||2013-10-17|||23013|ENSG00000065526|10451362_%2C__%20_11331609|NM_015001|725|RNA_%20_binding_%20_motif_%20_containing|CCDS164|OTTHUMG00000009376|23013|613484|NM_015001|Q96T58|ENSG00000065526|uc001axk.2|MINT_HUMAN||Q9H9A8_%7C_Q9NWH5_%7C_Q9UQ01_%7C_Q9Y556|Q96T58|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_positive_%20_regulation_%20_of_%20_neurogenesis_%20_(GO:0050769)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_viral_%20_process_%20_(GO:0016032)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleus_%20_(GO:0005634)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|nucleotide_%20_binding_%20_(GO:0000166)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_RNA_%20_polymerase_%20_II_%20_transcription_%20_factor_%20_binding_%20_(GO:0001085)_%7C_RNA_%20_polymerase_%20_II_%20_transcription_%20_factor_%20_binding_%20_transcription_%20_factor_%20_activity_%20_involved_%20_in_%20_negative_%20_regulation_%20_of_%20_transcription_%20_(GO:0001191)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_single-stranded_%20_DNA_%20_binding_%20_(GO:0003697)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|SPEN:23013|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|765451626|16262476|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040002000200|1|false|144|rs765451626|] -chr1 16865770 rs200788146 CT C 439.48 PASS FUNCOTATION=[AL355149.2|hg19|chr1|16865771|16865771|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:16865771delT|ENST00000601199.1|+|1|210|c.211delT|c.(211-213)tttfs|p.W72fs|0.5635910224438903|GGAGGGCACCTTTTGGACAGA||||||||||||||||||||||||||||||||||AL355149|||||||||||||||||||||||||||||||||||||||_%7C__%7C_|_%7C__%7C_|_%7C__%7C_|true_%7C_true_%7C_true|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|FAM231B:100133301_%7C_FAM231B:100133301_%7C_FAM231B:100133301|true_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|true_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|true_%7C_true_%7C_true|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|true_%7C_true_%7C_true|71574191_%7C_67841213_%7C_57681900|16865771_%7C_16865773_%7C_16865774|false_%7C_true_%7C_false|false_%7C_false_%7C_false|0_%7C_0_%7C_0|true_%7C_false_%7C_false|0_%7C_0_%7C_1|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|DIV_%7C_DIV_%7C_DIV|false_%7C_false_%7C_false|0x05010000120500011e000200_%7C_0x050000001205000002000200_%7C_0x050000001205000002000240|1_%7C_1_%7C_1|false_%7C_false_%7C_false|130_%7C_131_%7C_129|rs71574191_%7C_rs67841213_%7C_rs57681900|_%7C__%7C_] -chr1 19408294 rs67232976 G GC 2309.93 PASS FUNCOTATION=[UBR4|hg19|chr1|19408294|19408295|INTRON||INS|-|-|C|g.chr1:19408294_19408295insC|ENST00000375254.3|-|||c.e103+227C>GC|||0.5125|TCTTCCCTGGCCCCATGTCT|UBR4_ENST00000375225.3_FRAME_SHIFT_INS_p.P3fs/UBR4_ENST00000375224.1_INTRON/UBR4_ENST00000375267.2_INTRON/UBR4_ENST00000375217.2_INTRON/UBR4_ENST00000375226.2_INTRON/UBR4_ENST00000543981.1_INTRON/UBR4_ENST00000429347.2_INTRON|||||||||||||||||||||||||689|biliary_tract(2)_%7C_breast(51)_%7C_central_nervous_system(44)_%7C_kidney(488)_%7C_large_intestine(37)_%7C_lung(2)_%7C_pancreas(22)_%7C_skin(42)_%7C_soft_tissue(1)|||||||BC096758|NM_020765.2|NP_065816.2|HGNC:30313|ubiquitin_%20_protein_%20_ligase_%20_E3_%20_component_%20_n-recognin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZUBR1|"zinc_%20_finger_%2C__%20_UBR1_%20_type_%20_1"|KIAA1307_%2C__%20_KIAA0462_%2C__%20_RBAF600||1p36.13|2015-08-24|2007-06-19|2007-06-19|AF348492||23352|ENSG00000127481|14702039_%2C__%20_10718198_%2C__%20_16055722|NM_020765|785|Ubiquitin_%20_protein_%20_ligase_%20_E3_%20_component_%20_n-recognins|CCDS189|OTTHUMG00000002498|23352|609890|NM_020765|Q5T4S7|ENSG00000127481|uc001bbi.4|UBR4_HUMAN||A8MPT2_%7C_A8MQ33_%7C_A8MQB1_%7C_O60646_%7C_O75050_%7C_Q4QRK5_%7C_Q5T4S8_%7C_Q5T4S9_%7C_Q5TBN8_%7C_Q5TBP2_%7C_Q6DKH8_%7C_Q6P4A4_%7C_Q7L8P7_%7C_Q8IXJ4_%7C_Q8TDN5_%7C_Q8WV67_%7C_Q9HA46_%7C_Q9P2N9_%7C_Q9UG82|Q5T4S7|protein_%20_ubiquitination_%20_involved_%20_in_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0042787)_%7C_viral_%20_process_%20_(GO:0016032)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)|ligase_%20_activity_%20_(GO:0016874)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.6306_%2C_0.3694|false|false|1||false|true|true|UBR4:23352|true|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|67232976|19408294|false|false|0|true|0|false|0.627653_%2C_0.372347|false|false|false|DIV|true|0x05010008000517013e000200|1|false|137|rs67232976|] -chr1 20501582 rs12139100 G A 275.25 PASS FUNCOTATION=[PLA2G2C|hg19|chr1|20501582|20501582|NONSENSE||SNP|G|G|A|g.chr1:20501582G>A|ENST00000429261.2|-|2|158|c.97C>T|c.(97-99)Cga>Tga|p.R33*|0.49875311720698257|AAGGCACTTCGCCCCGTGATG|PLA2G2C_ENST00000247992.5_NONSENSE_p.R36*/PLA2G2C_ENST00000495760.2_INTRON|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||Z98257|||HGNC:9032|phospholipase_%20_A2_%20_group_%20_IIC|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phospholipase_%20_A2_%2C__%20_group_%20_IIC_%20_(possible_%20_pseudogene)"_%2C__%20_"phospholipase_%20_A2_%2C__%20_group_%20_IIC"|||1p36.12|2015-11-18||2015-11-18|||391013|ENSG00000187980|8838795|NM_001105572|467|Phospholipases||OTTHUMG00000002705|391013||NM_001316722|Q5R387|ENSG00000187980|uc009vpq.1|PA2GC_HUMAN||Q7M4M6|Q5R387|lipid_%20_catabolic_%20_process_%20_(GO:0016042)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)|extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_phospholipase_%20_A2_%20_activity_%20_(GO:0004623)||||true|false|0.7598_%2C_0.2402|false|false|1||false|true|true|PLA2G2C:391013|true|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|12139100|20501582|false|false|0|true|0|false|0.791916_%2C_0.208084|false|false|false|SNV|true|0x05010000060517053f000100|1|false|120|rs12139100|] -chr1 22033385 . GA G 799.10 PASS FUNCOTATION=[USP48|hg19|chr1|22033386|22033386|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:22033386delA|ENST00000529637.1|-|16|2010|c.1975delT|c.(1975-1977)tccfs|p.S659fs|0.35910224438902744|ATATATTTGGAAAAAAAAAAA|USP48_ENST00000308271.9_INTRON/USP48_ENST00000374732.3_INTRON/USP48_ENST00000400301.1_INTRON|||||||||||||||||||||||||615|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||BC143354|||HGNC:18533|ubiquitin_%20_specific_%20_peptidase_%20_48|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|USP31|"ubiquitin_%20_specific_%20_protease_%20_31"_%2C__%20_"ubiquitin_%20_specific_%20_protease_%20_48"|FLJ23277_%2C__%20_FLJ11328_%2C__%20_FLJ20103_%2C__%20_FLJ23054_%2C__%20_MGC14879||1p36.12|2015-08-26|2004-04-07|2005-08-08|AF502942||84196|ENSG00000090686|12838346|NM_032236|366|Ubiquitin_%20_specific_%20_peptidases|CCDS30623_%2C__%20_CCDS44084_%2C__%20_CCDS81277|OTTHUMG00000007798|84196|617445|NM_001032730|Q86UV5|ENSG00000090686|uc001bfb.4|UBP48_HUMAN||B7ZKS7_%7C_Q2M3I4_%7C_Q5SZI4_%7C_Q5T3T5_%7C_Q6NX53_%7C_Q8N3F6_%7C_Q96F64_%7C_Q96IQ3_%7C_Q9H5N3_%7C_Q9H5T7_%7C_Q9NUJ6_%7C_Q9NXR0|Q86UV5|ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0006511)|cytoplasm_%20_(GO:0005737)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|ubiquitin-specific_%20_protease_%20_activity_%20_(GO:0004843)||||true|false||false|false|||false|false|false|USP48:84196|false|false|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|532575338|22033386|false|false|0|false|0|false||false|false|false|DIV|true|0x050000081205040002000200|1|false|142|rs532575338|] -chr1 23280024 . G GCAC 529.29 PASS FUNCOTATION=[LACTBL1|hg19|chr1|23280024|23280025|IN_FRAME_INS||INS|-|-|CAC|g.chr1:23280024_23280025insCAC|ENST00000426928.2|-|6|1153|c.1152_1153insGTG|c.(1150-1155)gtgctg>gtgGTGctg|p.384_385insV|0.765|CCAGCAGCAGCACCAGGCCC||||||||||||||||||||||||||||||||||AL035704|||HGNC:35445|lactamase_%20_beta_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.12|2015-11-23||2015-11-23|||646262|ENSG00000215906||XM_002342035.1||||OTTHUMG00000003228|646262||NM_001289974|A8MY62|ENSG00000215906|uc057dei.1|BLML_HUMAN|||A8MY62|||||||true|false||false|false|||false|false|false|LACTBL1:646262|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|764403246|23280024|false|false|0|false|0|false||false|false|false|DIV|false|0x050000000005000002000200|1|false|144|rs764403246|] -chr1 23670803 rs12409193 G C 411.95 PASS FUNCOTATION=[HNRNPR|hg19|chr1|23670803|23670803|DE_NOVO_START_IN_FRAME||SNP|G|G|C|g.chr1:23670803G>C|ENST00000374616.3|-|1|||||0.683291770573566|TCCCCCCCCTGATGGACTGAG|HNRNPR_ENST00000374612.1_DE_NOVO_START_IN_FRAME/HNRNPR_ENST00000478691.1_DE_NOVO_START_OUT_FRAME/HNRNPR_ENST00000302271.6_FIVE_PRIME_FLANK/HNRNPR_ENST00000426846.2_FIVE_PRIME_FLANK/HNRNPR_ENST00000427764.2_FIVE_PRIME_FLANK/HNRNPR_ENST00000606561.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||178|central_nervous_system(22)_%7C_haematopoietic_and_lymphoid_tissue(156)|||||||DQ351905|||HGNC:5047|heterogeneous_%20_nuclear_%20_ribonucleoprotein_%20_R|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HNRPR||hnRNP-R||1p36.12|2015-09-11|2007-08-16||AF000364||10236|ENSG00000125944|9421497|NM_005826|725|RNA_%20_binding_%20_motif_%20_containing|CCDS232_%2C__%20_CCDS44085_%2C__%20_CCDS60020_%2C__%20_CCDS72726_%2C__%20_CCDS72727|OTTHUMG00000003224|10236|607201|NM_001102397|O43390|ENSG00000125944|uc057dey.1|HNRPR_HUMAN||Q2L7G6_%7C_Q5TEH1_%7C_Q9BV64_%7C_S4R3J4|O43390|gene_%20_expression_%20_(GO:0010467)_%7C_mRNA_%20_processing_%20_(GO:0006397)_%7C_mRNA_%20_splicing_%2C__%20_via_%20_spliceosome_%20_(GO:0000398)_%7C_RNA_%20_splicing_%20_(GO:0008380)|catalytic_%20_step_%20_2_%20_spliceosome_%20_(GO:0071013)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_ribonucleoprotein_%20_complex_%20_(GO:0030529)_%7C_spliceosomal_%20_complex_%20_(GO:0005681)|nucleotide_%20_binding_%20_(GO:0000166)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_RNA_%20_binding_%20_(GO:0003723)||||true|false|0.6534_%2C_0.3466|false|false|1||false|true|true|HNRNPR:10236|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|12409193|23670803|false|false|0|true|0|false|0.645099_%2C_0.354901|false|false|true|SNV|true|0x05010042000517053e000100|1|false|120|rs12409193|] -chr1 23966894 rs5773050 T TAAG 583.16 PASS FUNCOTATION=[MDS2|hg19|chr1|23966894|23966895|IN_FRAME_INS||INS|-|-|AAG|g.chr1:23966894_23966895insAAG|ENST00000374555.3|+|7|865|c.278_279insAAG|c.(277-279)gta>gtAAGa|p.93_94insR|0.4525|GTGGCTTTGTAAGAAGAAAA|MDS2_ENST00000477916.1_INTRON||myelodysplastic_%20_syndrome_%20_2|259283|1|1p36|yes||MDS|||L|Dom|T|ETV6|||||||||||681|biliary_tract(2)_%7C_breast(174)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL451000|||HGNC:29633|myelodysplastic_%20_syndrome_%20_2_%20_translocation_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36|2017-08-17|||AJ310434||259283|ENSG00000197880|12203785|||||OTTHUMG00000002927|259283|607305|NR_027042|Q8NDY4|ENSG00000197880|uc057dgf.1|MDS2_HUMAN|||Q8NDY4||extracellular_%20_space_%20_(GO:0005615)||_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.7232_%2C_0.2768_%7C_0.7232_%2C_0.2768|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|MDS2:259283_%7C_MDS2:259283|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|3072132_%7C_5773050|23966894_%7C_23966902|true_%7C_false|false_%7C_false|0_%7C_0|true_%7C_false|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05010000000517003e000200_%7C_0x050000000005000002000200|1_%7C_1|false_%7C_false|102_%7C_138|rs3072132_%7C_rs5773050|_%7C_] -chr1 26608825 . TGGGGCCG T 2482.89 PASS FUNCOTATION=[UBXN11|hg19|chr1|26608826|26608832|FRAME_SHIFT_DEL||DEL|GGGGCCG|GGGGCCG|-|g.chr1:26608826_26608832delGGGGCCG|ENST00000374222.1|-|16|1993_1999|c.1521_1527delCGGCCCC|c.(1519-1527)cccggccccfs|p.G508fs|0.7002457002457002|GACAGGGACTGGGGCCGGGACCGGGAC|UBXN11_ENST00000374221.3_FRAME_SHIFT_DEL_p.G508fs/UBXN11_ENST00000314675.7_FRAME_SHIFT_DEL_p.G388fs/UBXN11_ENST00000357089.4_FRAME_SHIFT_DEL_p.G475fs/UBXN11_ENST00000374223.1_FRAME_SHIFT_DEL_p.G265fs/UBXN11_ENST00000374217.2_FRAME_SHIFT_DEL_p.G475fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR749413|||HGNC:30600|UBX_%20_domain_%20_protein_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|UBXD5|"UBX_%20_domain_%20_containing_%20_5"|SOC_%2C__%20_SOCI|"socius"|1p36.11|2014-11-18|2008-07-25|2008-07-25|AF521017||91544|ENSG00000158062|11940653|NM_145345|364|UBX_%20_domain_%20_containing|CCDS41286_%2C__%20_CCDS41287_%2C__%20_CCDS41288|OTTHUMG00000003382|91544|609151|NM_001077262|Q5T124|ENSG00000158062|uc057dqd.1|UBX11_HUMAN||D3DPK6_%7C_Q5T117_%7C_Q5T120_%7C_Q5T125_%7C_Q5T126_%7C_Q5T129_%7C_Q5T131_%7C_Q5T133_%7C_Q63HM6_%7C_Q71RB3_%7C_Q8IY27_%7C_Q8N1L6_%7C_Q8N9M4_%7C_Q8NA18_%7C_Q8NFE3_%7C_Q8NFE4_%7C_Q8NFE6|Q5T124||cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)|||||true|false||false|false|||false|false|false|UBXN11:91544|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|752317296|26608826|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs752317296|] -chr1 26608835 . ACCGGGACCGGGACTGGG A 2471.89 PASS FUNCOTATION=[UBXN11|hg19|chr1|26608836|26608852|FRAME_SHIFT_DEL||DEL|CCGGGACCGGGACTGGG|CCGGGACCGGGACTGGG|-|g.chr1:26608836_26608852delCCGGGACCGGGACTGGG|ENST00000374222.1|-|16|1983_1999|c.1501_1517delCCCAGTCCCGGTCCCGG|c.(1501-1518)cccagtcccggtcccggtfs|p.P501fs|0.6954436450839329|GGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCG|UBXN11_ENST00000374221.3_FRAME_SHIFT_DEL_p.P501fs/UBXN11_ENST00000314675.7_FRAME_SHIFT_DEL_p.P381fs/UBXN11_ENST00000357089.4_FRAME_SHIFT_DEL_p.P468fs/UBXN11_ENST00000374223.1_FRAME_SHIFT_DEL_p.P258fs/UBXN11_ENST00000374217.2_FRAME_SHIFT_DEL_p.P468fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR749413|||HGNC:30600|UBX_%20_domain_%20_protein_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|UBXD5|"UBX_%20_domain_%20_containing_%20_5"|SOC_%2C__%20_SOCI|"socius"|1p36.11|2014-11-18|2008-07-25|2008-07-25|AF521017||91544|ENSG00000158062|11940653|NM_145345|364|UBX_%20_domain_%20_containing|CCDS41286_%2C__%20_CCDS41287_%2C__%20_CCDS41288|OTTHUMG00000003382|91544|609151|NM_001077262|Q5T124|ENSG00000158062|uc057dqd.1|UBX11_HUMAN||D3DPK6_%7C_Q5T117_%7C_Q5T120_%7C_Q5T125_%7C_Q5T126_%7C_Q5T129_%7C_Q5T131_%7C_Q5T133_%7C_Q63HM6_%7C_Q71RB3_%7C_Q8IY27_%7C_Q8N1L6_%7C_Q8N9M4_%7C_Q8NA18_%7C_Q8NFE3_%7C_Q8NFE4_%7C_Q8NFE6|Q5T124||cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)|||||true|false||false|false|||false|false|false|UBXN11:91544|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|757094832|26608836|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs757094832|] -chr1 26608865 . ACC A 411.26 PASS FUNCOTATION=[UBXN11|hg19|chr1|26608866|26608867|FRAME_SHIFT_DEL||DEL|CC|CC|-|g.chr1:26608866_26608867delCC|ENST00000374222.1|-|16|1953_1954|c.1486_1487delGG|c.(1486-1488)ggtfs|p.G496fs|0.6865671641791045|GGGACCGGGACCGGGACTGGGG|UBXN11_ENST00000374221.3_FRAME_SHIFT_DEL_p.G496fs/UBXN11_ENST00000314675.7_FRAME_SHIFT_DEL_p.G376fs/UBXN11_ENST00000357089.4_FRAME_SHIFT_DEL_p.G463fs/UBXN11_ENST00000374223.1_FRAME_SHIFT_DEL_p.G253fs/UBXN11_ENST00000374217.2_FRAME_SHIFT_DEL_p.G463fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR749413|||HGNC:30600|UBX_%20_domain_%20_protein_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|UBXD5|"UBX_%20_domain_%20_containing_%20_5"|SOC_%2C__%20_SOCI|"socius"|1p36.11|2014-11-18|2008-07-25|2008-07-25|AF521017||91544|ENSG00000158062|11940653|NM_145345|364|UBX_%20_domain_%20_containing|CCDS41286_%2C__%20_CCDS41287_%2C__%20_CCDS41288|OTTHUMG00000003382|91544|609151|NM_001077262|Q5T124|ENSG00000158062|uc057dqd.1|UBX11_HUMAN||D3DPK6_%7C_Q5T117_%7C_Q5T120_%7C_Q5T125_%7C_Q5T126_%7C_Q5T129_%7C_Q5T131_%7C_Q5T133_%7C_Q63HM6_%7C_Q71RB3_%7C_Q8IY27_%7C_Q8N1L6_%7C_Q8N9M4_%7C_Q8NA18_%7C_Q8NFE3_%7C_Q8NFE4_%7C_Q8NFE6|Q5T124||cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)|||||true|false||false|false|||false|false|false|UBXN11:91544|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|764852231|26608866|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs764852231|] -chr1 26608868 . GGGACTGGGGCCGGGACCGGGACCGGGAC G 372.26 PASS FUNCOTATION=[UBXN11|hg19|chr1|26608869|26608896|FRAME_SHIFT_DEL||DEL|GGACTGGGGCCGGGACCGGGACCGGGAC|GGACTGGGGCCGGGACCGGGACCGGGAC|-|g.chr1:26608869_26608896delGGACTGGGGCCGGGACCGGGACCGGGAC|ENST00000374222.1|-|16|1950_1977|c.1457_1484delGTCCCGGTCCCGGTCCCGGCCCCAGTCC|c.(1456-1485)tgtcccggtcccggtcccggccccagtcccfs|p.C486fs|0.6892523364485982|ACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACAGGGACCAGG|UBXN11_ENST00000374221.3_FRAME_SHIFT_DEL_p.C486fs/UBXN11_ENST00000314675.7_FRAME_SHIFT_DEL_p.C366fs/UBXN11_ENST00000357089.4_FRAME_SHIFT_DEL_p.C453fs/UBXN11_ENST00000374223.1_FRAME_SHIFT_DEL_p.C243fs/UBXN11_ENST00000374217.2_FRAME_SHIFT_DEL_p.C453fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR749413|||HGNC:30600|UBX_%20_domain_%20_protein_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|UBXD5|"UBX_%20_domain_%20_containing_%20_5"|SOC_%2C__%20_SOCI|"socius"|1p36.11|2014-11-18|2008-07-25|2008-07-25|AF521017||91544|ENSG00000158062|11940653|NM_145345|364|UBX_%20_domain_%20_containing|CCDS41286_%2C__%20_CCDS41287_%2C__%20_CCDS41288|OTTHUMG00000003382|91544|609151|NM_001077262|Q5T124|ENSG00000158062|uc057dqd.1|UBX11_HUMAN||D3DPK6_%7C_Q5T117_%7C_Q5T120_%7C_Q5T125_%7C_Q5T126_%7C_Q5T129_%7C_Q5T131_%7C_Q5T133_%7C_Q63HM6_%7C_Q71RB3_%7C_Q8IY27_%7C_Q8N1L6_%7C_Q8N9M4_%7C_Q8NA18_%7C_Q8NFE3_%7C_Q8NFE4_%7C_Q8NFE6|Q5T124||cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)|||||true|false||false|false|||false|false|false|UBXN11:91544|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|757886085|26608869|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040002000200|1|false|144|rs757886085|] -chr1 28800350 . CCAGAAA C 132.29 PASS FUNCOTATION=[PHACTR4|hg19|chr1|28800351|28800356|IN_FRAME_DEL||DEL|CAGAAA|CAGAAA|-|g.chr1:28800351_28800356delCAGAAA|ENST00000373836.3|+|6|1352_1357|c.1139_1144delCAGAAA|c.(1138-1146)ccagaaatt>ctt|p.380_382PEI>L|0.5246305418719212|CAAGTTGTGCCAGAAATTGAGTTTCC|PHACTR4_ENST00000373839.3_IN_FRAME_DEL_p.370_372PEI>L/PHACTR4_ENST00000493669.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR749449|NM_023923.3|NP_076412.3|HGNC:25793|phosphatase_%20_and_%20_actin_%20_regulator_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13171_%2C__%20_PPP1R124|"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_124"|1p35.3|2016-10-05|||AF130081||65979|ENSG00000204138|11483580_%2C__%20_15107502|NM_023923|679_%7C_694|Phosphatase_%20_and_%20_actin_%20_regulators_%7C_Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS41293_%2C__%20_CCDS41294|OTTHUMG00000003541|65979|608726|NM_001048183|Q8IZ21|ENSG00000204138|uc001bpy.5|PHAR4_HUMAN||A2APK6_%7C_B9ZVW0_%7C_D3DPM3_%7C_Q68DD4_%7C_Q6NUN6_%7C_Q8N384_%7C_Q9H395_%7C_Q9H6X0_%7C_Q9H8W6|Q8IZ21|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_closure_%20_of_%20_optic_%20_fissure_%20_(GO:0061386)_%7C_enteric_%20_nervous_%20_system_%20_development_%20_(GO:0048484)_%7C_negative_%20_regulation_%20_of_%20_integrin-mediated_%20_signaling_%20_pathway_%20_(GO:2001045)_%7C_neural_%20_crest_%20_cell_%20_migration_%20_(GO:0001755)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_positive_%20_regulation_%20_of_%20_catalytic_%20_activity_%20_(GO:0043085)_%7C_regulation_%20_of_%20_cell_%20_cycle_%20_(GO:0051726)_%7C_Rho_%20_protein_%20_signal_%20_transduction_%20_(GO:0007266)|cytoplasm_%20_(GO:0005737)_%7C_lamellipodium_%20_(GO:0030027)|actin_%20_binding_%20_(GO:0003779)_%7C_protein_%20_phosphatase_%20_1_%20_binding_%20_(GO:0008157)_%7C_protein_%20_phosphatase_%20_type_%20_1_%20_activator_%20_activity_%20_(GO:0071862)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 28800358 . TGAG T 130.68 PASS FUNCOTATION=[PHACTR4|hg19|chr1|28800359|28800361|IN_FRAME_DEL||DEL|GAG|GAG|-|g.chr1:28800359_28800361delGAG|ENST00000373836.3|+|6|1360_1362|c.1147_1149delGAG|c.(1147-1149)gagdel|p.E383del|0.5260545905707196|GCCAGAAATTGAGTTTCCACCAT|PHACTR4_ENST00000373839.3_IN_FRAME_DEL_p.E373del/PHACTR4_ENST00000493669.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR749449|NM_023923.3|NP_076412.3|HGNC:25793|phosphatase_%20_and_%20_actin_%20_regulator_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13171_%2C__%20_PPP1R124|"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_124"|1p35.3|2016-10-05|||AF130081||65979|ENSG00000204138|11483580_%2C__%20_15107502|NM_023923|679_%7C_694|Phosphatase_%20_and_%20_actin_%20_regulators_%7C_Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS41293_%2C__%20_CCDS41294|OTTHUMG00000003541|65979|608726|NM_001048183|Q8IZ21|ENSG00000204138|uc001bpy.5|PHAR4_HUMAN||A2APK6_%7C_B9ZVW0_%7C_D3DPM3_%7C_Q68DD4_%7C_Q6NUN6_%7C_Q8N384_%7C_Q9H395_%7C_Q9H6X0_%7C_Q9H8W6|Q8IZ21|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_closure_%20_of_%20_optic_%20_fissure_%20_(GO:0061386)_%7C_enteric_%20_nervous_%20_system_%20_development_%20_(GO:0048484)_%7C_negative_%20_regulation_%20_of_%20_integrin-mediated_%20_signaling_%20_pathway_%20_(GO:2001045)_%7C_neural_%20_crest_%20_cell_%20_migration_%20_(GO:0001755)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_positive_%20_regulation_%20_of_%20_catalytic_%20_activity_%20_(GO:0043085)_%7C_regulation_%20_of_%20_cell_%20_cycle_%20_(GO:0051726)_%7C_Rho_%20_protein_%20_signal_%20_transduction_%20_(GO:0007266)|cytoplasm_%20_(GO:0005737)_%7C_lamellipodium_%20_(GO:0030027)|actin_%20_binding_%20_(GO:0003779)_%7C_protein_%20_phosphatase_%20_1_%20_binding_%20_(GO:0008157)_%7C_protein_%20_phosphatase_%20_type_%20_1_%20_activator_%20_activity_%20_(GO:0071862)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 28800364 . T TTAATGATACGG 174.58 PASS FUNCOTATION=[PHACTR4|hg19|chr1|28800364|28800365|FRAME_SHIFT_INS||INS|-|-|TAATGATACGG|g.chr1:28800364_28800365insTAATGATACGG|ENST00000373836.3|+|6|1366|c.1152_1153insTAATGATACGG|c.(1153-1155)ccafs|p.P385fs|0.525|AATTGAGTTTCCACCATCCT|PHACTR4_ENST00000373839.3_FRAME_SHIFT_INS_p.P375fs/PHACTR4_ENST00000493669.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR749449|NM_023923.3|NP_076412.3|HGNC:25793|phosphatase_%20_and_%20_actin_%20_regulator_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13171_%2C__%20_PPP1R124|"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_124"|1p35.3|2016-10-05|||AF130081||65979|ENSG00000204138|11483580_%2C__%20_15107502|NM_023923|679_%7C_694|Phosphatase_%20_and_%20_actin_%20_regulators_%7C_Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS41293_%2C__%20_CCDS41294|OTTHUMG00000003541|65979|608726|NM_001048183|Q8IZ21|ENSG00000204138|uc001bpy.5|PHAR4_HUMAN||A2APK6_%7C_B9ZVW0_%7C_D3DPM3_%7C_Q68DD4_%7C_Q6NUN6_%7C_Q8N384_%7C_Q9H395_%7C_Q9H6X0_%7C_Q9H8W6|Q8IZ21|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_closure_%20_of_%20_optic_%20_fissure_%20_(GO:0061386)_%7C_enteric_%20_nervous_%20_system_%20_development_%20_(GO:0048484)_%7C_negative_%20_regulation_%20_of_%20_integrin-mediated_%20_signaling_%20_pathway_%20_(GO:2001045)_%7C_neural_%20_crest_%20_cell_%20_migration_%20_(GO:0001755)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_positive_%20_regulation_%20_of_%20_catalytic_%20_activity_%20_(GO:0043085)_%7C_regulation_%20_of_%20_cell_%20_cycle_%20_(GO:0051726)_%7C_Rho_%20_protein_%20_signal_%20_transduction_%20_(GO:0007266)|cytoplasm_%20_(GO:0005737)_%7C_lamellipodium_%20_(GO:0030027)|actin_%20_binding_%20_(GO:0003779)_%7C_protein_%20_phosphatase_%20_1_%20_binding_%20_(GO:0008157)_%7C_protein_%20_phosphatase_%20_type_%20_1_%20_activator_%20_activity_%20_(GO:0071862)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 28800370 . AT A 200.53 PASS FUNCOTATION=[PHACTR4|hg19|chr1|28800371|28800371|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:28800371delT|ENST00000373836.3|+|6|1372|c.1159delT|c.(1159-1161)tccfs|p.S387fs|0.5236907730673317|GTTTCCACCATCCTTAGATCT|PHACTR4_ENST00000373839.3_FRAME_SHIFT_DEL_p.S377fs/PHACTR4_ENST00000493669.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR749449|NM_023923.3|NP_076412.3|HGNC:25793|phosphatase_%20_and_%20_actin_%20_regulator_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13171_%2C__%20_PPP1R124|"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_124"|1p35.3|2016-10-05|||AF130081||65979|ENSG00000204138|11483580_%2C__%20_15107502|NM_023923|679_%7C_694|Phosphatase_%20_and_%20_actin_%20_regulators_%7C_Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS41293_%2C__%20_CCDS41294|OTTHUMG00000003541|65979|608726|NM_001048183|Q8IZ21|ENSG00000204138|uc001bpy.5|PHAR4_HUMAN||A2APK6_%7C_B9ZVW0_%7C_D3DPM3_%7C_Q68DD4_%7C_Q6NUN6_%7C_Q8N384_%7C_Q9H395_%7C_Q9H6X0_%7C_Q9H8W6|Q8IZ21|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_closure_%20_of_%20_optic_%20_fissure_%20_(GO:0061386)_%7C_enteric_%20_nervous_%20_system_%20_development_%20_(GO:0048484)_%7C_negative_%20_regulation_%20_of_%20_integrin-mediated_%20_signaling_%20_pathway_%20_(GO:2001045)_%7C_neural_%20_crest_%20_cell_%20_migration_%20_(GO:0001755)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_positive_%20_regulation_%20_of_%20_catalytic_%20_activity_%20_(GO:0043085)_%7C_regulation_%20_of_%20_cell_%20_cycle_%20_(GO:0051726)_%7C_Rho_%20_protein_%20_signal_%20_transduction_%20_(GO:0007266)|cytoplasm_%20_(GO:0005737)_%7C_lamellipodium_%20_(GO:0030027)|actin_%20_binding_%20_(GO:0003779)_%7C_protein_%20_phosphatase_%20_1_%20_binding_%20_(GO:0008157)_%7C_protein_%20_phosphatase_%20_type_%20_1_%20_activator_%20_activity_%20_(GO:0071862)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 28800375 . T G 213.53 PASS FUNCOTATION=[PHACTR4|hg19|chr1|28800375|28800375|NONSENSE||SNP|T|T|G|g.chr1:28800375T>G|ENST00000373836.3|+|6|1377|c.1163T>G|c.(1162-1164)tTa>tGa|p.L388*|0.5211970074812967|CCACCATCCTTAGATCTACAC|PHACTR4_ENST00000373839.3_NONSENSE_p.L378*/PHACTR4_ENST00000493669.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR749449|NM_023923.3|NP_076412.3|HGNC:25793|phosphatase_%20_and_%20_actin_%20_regulator_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13171_%2C__%20_PPP1R124|"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_124"|1p35.3|2016-10-05|||AF130081||65979|ENSG00000204138|11483580_%2C__%20_15107502|NM_023923|679_%7C_694|Phosphatase_%20_and_%20_actin_%20_regulators_%7C_Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS41293_%2C__%20_CCDS41294|OTTHUMG00000003541|65979|608726|NM_001048183|Q8IZ21|ENSG00000204138|uc001bpy.5|PHAR4_HUMAN||A2APK6_%7C_B9ZVW0_%7C_D3DPM3_%7C_Q68DD4_%7C_Q6NUN6_%7C_Q8N384_%7C_Q9H395_%7C_Q9H6X0_%7C_Q9H8W6|Q8IZ21|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_closure_%20_of_%20_optic_%20_fissure_%20_(GO:0061386)_%7C_enteric_%20_nervous_%20_system_%20_development_%20_(GO:0048484)_%7C_negative_%20_regulation_%20_of_%20_integrin-mediated_%20_signaling_%20_pathway_%20_(GO:2001045)_%7C_neural_%20_crest_%20_cell_%20_migration_%20_(GO:0001755)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_positive_%20_regulation_%20_of_%20_catalytic_%20_activity_%20_(GO:0043085)_%7C_regulation_%20_of_%20_cell_%20_cycle_%20_(GO:0051726)_%7C_Rho_%20_protein_%20_signal_%20_transduction_%20_(GO:0007266)|cytoplasm_%20_(GO:0005737)_%7C_lamellipodium_%20_(GO:0030027)|actin_%20_binding_%20_(GO:0003779)_%7C_protein_%20_phosphatase_%20_1_%20_binding_%20_(GO:0008157)_%7C_protein_%20_phosphatase_%20_type_%20_1_%20_activator_%20_activity_%20_(GO:0071862)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 31882582 rs4012494 G GGCCTCA 1419.16 PASS FUNCOTATION=[SERINC2|hg19|chr1|31882582|31882583|FIVE_PRIME_UTR||INS|-|-|GCCTCA|g.chr1:31882582_31882583insGCCTCA|ENST00000373710.1|+|1|||||0.5025|ATAAGGGATGGCCCTGCTCT|SERINC2_ENST00000373709.3_FIVE_PRIME_FLANK/SERINC2_ENST00000536384.1_FIVE_PRIME_FLANK/SERINC2_ENST00000536859.1_FIVE_PRIME_FLANK/SERINC2_ENST00000491976.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC126285|NM_001199038.1|NP_001185967.1|HGNC:23231|serine_%20_incorporator_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TDE2L|"tumor_%20_differentially_%20_expressed_%20_2-like"|FKSG84_%2C__%20_PRO0899_%2C__%20_TDE2||1p35.2|2016-10-05|2005-11-01|2005-11-01|AY094595||347735|ENSG00000168528|12949800|NM_018565|||CCDS30662_%2C__%20_CCDS55583_%2C__%20_CCDS55584_%2C__%20_CCDS55585|OTTHUMG00000003796|347735|614549|NM_001199037|Q96SA4|ENSG00000168528|uc001bst.4|SERC2_HUMAN||A0AVB4_%7C_B4DJK5_%7C_B7Z567_%7C_B7ZAP2_%7C_E7EUZ9_%7C_Q86Y23|Q96SA4|phosphatidylserine_%20_metabolic_%20_process_%20_(GO:0006658)_%7C_positive_%20_regulation_%20_of_%20_transferase_%20_activity_%20_(GO:0051347)_%7C_sphingolipid_%20_metabolic_%20_process_%20_(GO:0006665)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|L-serine_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015194)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.4065_%2C_0.5935_%7C_0.4065_%2C_0.5935|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|SERINC2:347735_%7C_SERINC2:347735|true_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_true|false_%7C_false|4012494_%7C_6143179|31882582_%7C_31882585|true_%7C_false|false_%7C_false|0_%7C_0|true_%7C_true|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|true_%7C_true|DIV_%7C_DIV|true_%7C_false|0x05010042000517012e000200_%7C_0x050100420005000102000200|1_%7C_1|false_%7C_false|108_%7C_130|rs4012494_%7C_rs6143179|_%7C_] -chr1 31905889 rs3050461 A ACAG 3632.73 PASS FUNCOTATION=[SERINC2|hg19|chr1|31905889|31905890|IN_FRAME_INS||INS|-|-|CAG|g.chr1:31905889_31905890insCAG|ENST00000373709.3|+|9|1239|c.1089_1090insCAG|c.(1090-1092)cag>CAGcag|p.363_364insQ|0.6025|AGACGCCACACAGCAGCAGC|SERINC2_ENST00000373710.1_IN_FRAME_INS_p.372_373insQ/SERINC2_ENST00000536384.1_IN_FRAME_INS_p.367_368insQ/SERINC2_ENST00000536859.1_IN_FRAME_INS_p.367_368insQ/AC114494.1_ENST00000596131.1_FIVE_PRIME_FLANK/SERINC2_ENST00000491976.1_INTRON|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC126285|NM_178865.4|NP_849196.2|HGNC:23231|serine_%20_incorporator_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TDE2L|"tumor_%20_differentially_%20_expressed_%20_2-like"|FKSG84_%2C__%20_PRO0899_%2C__%20_TDE2||1p35.2|2016-10-05|2005-11-01|2005-11-01|AY094595||347735|ENSG00000168528|12949800|NM_018565|||CCDS30662_%2C__%20_CCDS55583_%2C__%20_CCDS55584_%2C__%20_CCDS55585|OTTHUMG00000003796|347735|614549|NM_001199037|Q96SA4|ENSG00000168528|uc001bst.4|SERC2_HUMAN||A0AVB4_%7C_B4DJK5_%7C_B7Z567_%7C_B7ZAP2_%7C_E7EUZ9_%7C_Q86Y23|Q96SA4|phosphatidylserine_%20_metabolic_%20_process_%20_(GO:0006658)_%7C_positive_%20_regulation_%20_of_%20_transferase_%20_activity_%20_(GO:0051347)_%7C_sphingolipid_%20_metabolic_%20_process_%20_(GO:0006665)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|L-serine_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015194)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.261_%2C_0.739_%7C_0.261_%2C_0.739|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|SERINC2:347735_%7C_SERINC2:347735|false_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|3050461_%7C_5773362|31905889_%7C_31905904|true_%7C_false|false_%7C_false|0_%7C_0|true_%7C_true|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05010000000517002e000200_%7C_0x050100000005000102000200|1_%7C_1|false_%7C_false|102_%7C_126|rs3050461_%7C_rs5773362|_%7C_] -chr1 36184975 rs7521021 G A 3135.69 PASS FUNCOTATION=[C1orf216|hg19|chr1|36184975|36184975|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:36184975G>A|ENST00000270815.4|-|1|||||0.5461346633416458|CCTAGATCACGTTCGTTCCCC|C1orf216_ENST00000503824.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471059|NM_152374.1|NP_689587.1|HGNC:26800|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_216|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ38984||1p34.3|2016-09-30|||AK096303||127703|ENSG00000142686|12477932|NM_152374|||CCDS395|OTTHUMG00000004167|127703||NM_152374|Q8TAB5|ENSG00000142686|uc001bzh.2|CA216_HUMAN||D3DPS1_%7C_Q8N8N6|Q8TAB5|||||||true|false|0.02416_%2C_0.9758|false|false|1||false|true|false|C1orf216:127703|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|7521021|36184975|false|false|0|true|0|false|0.025929_%2C_0.974071|false|false|false|SNV|true|0x05010002000515053f000100|1|false|116|rs7521021|] -chr1 36643700 rs141305015 GAGA G 909.25 PASS FUNCOTATION=[MAP7D1|hg19|chr1|36643701|36643703|IN_FRAME_DEL||DEL|AGA|AGA|-|g.chr1:36643701_36643703delAGA|ENST00000373151.2|+|9|1822_1824|c.1607_1609delAGA|c.(1606-1611)gagaag>gag|p.K537del|0.6972704714640199|GCCAGTAACGAGAAGGAGTCAGC|MAP7D1_ENST00000373150.4_IN_FRAME_DEL_p.K505del/MAP7D1_ENST00000316156.4_IN_FRAME_DEL_p.K500del/MAP7D1_ENST00000373148.4_IN_FRAME_DEL_p.K83del|||||||||||||||||||||||||135|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(44)_%7C_large_intestine(35)_%7C_pancreas(22)|||||||CR457254|NM_018067.3|NP_060537.3|HGNC:25514|MAP7_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PARCC1_%2C__%20_RPRC1|"proline_%20_arginine_%20_rich_%20_coiled_%20_coil_%20_1"_%2C__%20_"arginine/proline_%20_rich_%20_coiled-coil_%20_1"|FLJ10350_%2C__%20_FLJ39022||1p34.3|2014-11-18|2007-02-08|2007-02-08|AK096341||55700|ENSG00000116871|10574461|NM_018067|||CCDS30673_%2C__%20_CCDS65492_%2C__%20_CCDS65493|OTTHUMG00000007714|55700||NM_001286365|Q3KQU3|ENSG00000116871|uc001bzz.5|MA7D1_HUMAN||D3DPS4_%7C_Q7L8J5_%7C_Q8N905_%7C_Q8TAK0_%7C_Q9HBQ2_%7C_Q9NW29_%7C_Q9ULN3|Q3KQU3|microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)|cytoplasm_%20_(GO:0005737)_%7C_microtubule_%20_(GO:0005874)_%7C_microtubule_%20_cytoskeleton_%20_(GO:0015630)||_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.9355_%2C_0.0645_%7C_0.9355_%2C_0.0645|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|false_%7C_false|MAP7D1:55700_%7C_MAP7D1:55700|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|141305015_%7C_3045695|36643701_%7C_36643703|false_%7C_true|false_%7C_false|0_%7C_0|false_%7C_true|0_%7C_0|false_%7C_false|0.973178_%2C_0.0268219_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05000000000515003e000200_%7C_0x050100000005000002000200|1_%7C_1|false_%7C_false|134_%7C_102|rs141305015_%7C_rs3045695|_%7C_] -chr1 40131838 . T TC 48.29 PASS FUNCOTATION=[NT5C1A|hg19|chr1|40131838|40131839|FRAME_SHIFT_INS||INS|-|-|C|g.chr1:40131838_40131839insC|ENST00000235628.1|-|2|206|c.205_206insG|c.(205-207)cagfs|p.Q69fs|0.565|GTGTAGATCTGCTGCTCCTC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC103880|NM_032526.1|NP_115915.1|HGNC:17819|5'-nucleotidase_%2C__%20_cytosolic_%20_IA|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CN-I_%2C__%20_CN-IA_%2C__%20_CN1A_%2C__%20_CN1_%2C__%20_MGC119199_%2C__%20_MGC119201|"cytosolic_%20_5'_%20_nucleotidase_%2C__%20_type_%20_1A"_%2C__%20_"AMP-specific_%20_5'-NT"_%2C__%20_"cytosolic_%20_5'-nucleotidase_%20_IA"|1p34.2|2016-10-05|||AF331801|3.1.3.5|84618|ENSG00000116981|11133996_%2C__%20_11690631|NM_032526|1042|5'-nucleotidases|CCDS440|OTTHUMG00000009244|84618|610525|NM_032526|Q9BXI3|ENSG00000116981|uc001cdq.1|5NT1A_HUMAN||Q3SYB9_%7C_Q5TG98_%7C_Q9BWT8|Q9BXI3|adenosine_%20_metabolic_%20_process_%20_(GO:0046085)_%7C_dephosphorylation_%20_(GO:0016311)_%7C_nucleobase-containing_%20_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0055086)_%7C_nucleoside_%20_metabolic_%20_process_%20_(GO:0009116)_%7C_purine_%20_nucleobase_%20_metabolic_%20_process_%20_(GO:0006144)_%7C_purine_%20_nucleoside_%20_monophosphate_%20_catabolic_%20_process_%20_(GO:0009128)_%7C_purine_%20_nucleotide_%20_catabolic_%20_process_%20_(GO:0006195)_%7C_pyrimidine_%20_nucleobase_%20_metabolic_%20_process_%20_(GO:0006206)_%7C_pyrimidine_%20_nucleoside_%20_catabolic_%20_process_%20_(GO:0046135)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)|5'-nucleotidase_%20_activity_%20_(GO:0008253)_%7C_magnesium_%20_ion_%20_binding_%20_(GO:0000287)_%7C_nucleotide_%20_binding_%20_(GO:0000166)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 40131850 . T TA 48.29 PASS FUNCOTATION=[NT5C1A|hg19|chr1|40131850|40131851|FRAME_SHIFT_INS||INS|-|-|A|g.chr1:40131850_40131851insA|ENST00000235628.1|-|2|194|c.193_194insT|c.(193-195)gacfs|p.D65fs|0.555|TGCTCCTCGTCCATGCGAAA||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC103880|NM_032526.1|NP_115915.1|HGNC:17819|5'-nucleotidase_%2C__%20_cytosolic_%20_IA|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CN-I_%2C__%20_CN-IA_%2C__%20_CN1A_%2C__%20_CN1_%2C__%20_MGC119199_%2C__%20_MGC119201|"cytosolic_%20_5'_%20_nucleotidase_%2C__%20_type_%20_1A"_%2C__%20_"AMP-specific_%20_5'-NT"_%2C__%20_"cytosolic_%20_5'-nucleotidase_%20_IA"|1p34.2|2016-10-05|||AF331801|3.1.3.5|84618|ENSG00000116981|11133996_%2C__%20_11690631|NM_032526|1042|5'-nucleotidases|CCDS440|OTTHUMG00000009244|84618|610525|NM_032526|Q9BXI3|ENSG00000116981|uc001cdq.1|5NT1A_HUMAN||Q3SYB9_%7C_Q5TG98_%7C_Q9BWT8|Q9BXI3|adenosine_%20_metabolic_%20_process_%20_(GO:0046085)_%7C_dephosphorylation_%20_(GO:0016311)_%7C_nucleobase-containing_%20_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0055086)_%7C_nucleoside_%20_metabolic_%20_process_%20_(GO:0009116)_%7C_purine_%20_nucleobase_%20_metabolic_%20_process_%20_(GO:0006144)_%7C_purine_%20_nucleoside_%20_monophosphate_%20_catabolic_%20_process_%20_(GO:0009128)_%7C_purine_%20_nucleotide_%20_catabolic_%20_process_%20_(GO:0006195)_%7C_pyrimidine_%20_nucleobase_%20_metabolic_%20_process_%20_(GO:0006206)_%7C_pyrimidine_%20_nucleoside_%20_catabolic_%20_process_%20_(GO:0046135)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)|5'-nucleotidase_%20_activity_%20_(GO:0008253)_%7C_magnesium_%20_ion_%20_binding_%20_(GO:0000287)_%7C_nucleotide_%20_binding_%20_(GO:0000166)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 41847872 . G GGCCCGCGCCGGGACGCCCGCCTACTTCGGCGGCTGCAAGGGCGGCGCCTACGGCGGGGGCGGGGGCTTCGGGCCGCCGGCGATGGGCGCTCTGCGCCGTCTGCCCATGCAGACCATCCAGGAGAACAAGCAGGCCAGCTTCGTGCCGGCCGCGGCGCCCTTCCGCCCTGGGGCGCTGCCCGCGCTGCTGCCGCCGCCGCC 3817.87 PASS FUNCOTATION=[FOXO6|hg19|chr1|41847872|41847873|FRAME_SHIFT_INS||INS|-|-|GCCCGCGCCGGGACGCCCGCCTACTTCGGCGGCTGCAAGGGCGGCGCCTACGGCGGGGGCGGGGGCTTCGGGCCGCCGGCGATGGGCGCTCTGCGCCGTCTGCCCATGCAGACCATCCAGGAGAACAAGCAGGCCAGCTTCGTGCCGGCCGCGGCGCCCTTCCGCCCTGGGGCGCTGCCCGCGCTGCTGCCGCCGCCGCC|g.chr1:41847872_41847873insGCCCGCGCCGGGACGCCCGCCTACTTCGGCGGCTGCAAGGGCGGCGCCTACGGCGGGGGCGGGGGCTTCGGGCCGCCGGCGATGGGCGCTCTGCGCCGTCTGCCCATGCAGACCATCCAGGAGAACAAGCAGGCCAGCTTCGTGCCGGCCGCGGCGCCCTTCCGCCCTGGGGCGCTGCCCGCGCTGCTGCCGCCGCCGCC|ENST00000372591.1|+|2|1008|c.999_1000insGCCCGCGCCGGGACGCCCGCCTACTTCGGCGGCTGCAAGGGCGGCGCCTACGGCGGGGGCGGGGGCTTCGGGCCGCCGGCGATGGGCGCTCTGCGCCGTCTGCCCATGCAGACCATCCAGGAGAACAAGCAGGCCAGCTTCGTGCCGGCCGCGGCGCCCTTCCGCCCTGGGGCGCTGCCCGCGCTGCTGCCGCCGCCGCC|c.(1000-1002)gccfs|p.Q337fs|0.8125|CGGGCCGCGGGCCCGCGCCC||||||||||||||||||||||||||||||||||AC093151|||HGNC:24814|forkhead_%20_box_%20_O6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p34.2|2014-11-18||2009-07-23|||100132074|ENSG00000204060|12857750|XM_002342102|508|Forkhead_%20_boxes||OTTHUMG00000005713|100132074|611457|NM_001291281|A8MYZ6|ENSG00000204060|uc057fid.1|FOXO6_HUMAN|||A8MYZ6|transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 44596379 rs34057178 CCAA C 850.25 PASS FUNCOTATION=[KLF17|hg19|chr1|44596380|44596382|IN_FRAME_DEL||DEL|CAA|CAA|-|g.chr1:44596380_44596382delCAA|ENST00000372299.3|+|3|1179_1181|c.1122_1124delCAA|c.(1120-1125)gccaac>gcc|p.N375del|0.5012406947890818|ACCCACAGGCCAACAACAACAAT|KLF17_ENST00000476802.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC049844|NM_173484.3|NP_775755.3|HGNC:18830|Kruppel_%20_like_%20_factor_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZNF393|"zinc_%20_finger_%20_protein_%20_393"|Zfp393_%2C__%20_FLJ40160||1p34.1|2016-06-03|2006-02-17|2016-06-03|BC049844||128209|ENSG00000171872|16460907|NM_173484|624_%7C_28|Kruppel_%20_like_%20_factors_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS508|OTTHUMG00000009664|128209|609602|NM_173484|Q5JT82|ENSG00000171872|uc001clp.4|KLF17_HUMAN||Q86VQ7_%7C_Q8N805|Q5JT82|gamete_%20_generation_%20_(GO:0007276)_%7C_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006357)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_transcription_%20_regulatory_%20_region_%20_DNA_%20_binding_%20_(GO:0044212)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.7698_%2C_0.2302_%7C_0.7698_%2C_0.2302|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|KLF17:128209_%7C_KLF17:128209|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|34057178_%7C_200059598|44596380_%7C_44596388|false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|1_%7C_0|false_%7C_false|0.857614_%2C_0.142386_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05000000000517003e000240_%7C_0x050000000005000002000200|1_%7C_1|false_%7C_false|126_%7C_137|rs34057178_%7C_rs200059598|_%7C_] -chr1 47080679 rs6671527 G A 1927.94 PASS FUNCOTATION=[MOB3C|hg19|chr1|47080679|47080679|NONSENSE||SNP|G|G|A|g.chr1:47080679G>A|ENST00000271139.8|-|1|127|c.70C>T|c.(70-72)Cga>Tga|p.R24*|0.5087281795511222|CCGACTCTTCGACTTCTCACC|MOB3C_ENST00000371940.1_FIVE_PRIME_UTR/MOB3C_ENST00000319928.3_INTRON/MKNK1_ENST00000545730.1_INTRON/MOB3C_ENST00000477318.1_INTRON|||||||||||||||||||||||||||||||||CH471059|NM_145279.4|NP_660322.2|HGNC:29800|MOB_%20_kinase_%20_activator_%20_3C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MOBKL2C|"MOB1_%2C__%20_Mps_%20_One_%20_Binder_%20_kinase_%20_activator-like_%20_2C_%20_(yeast)"|MOB1E||1p33|2016-10-05|2011-09-28|2011-09-28|AK091808||148932|ENSG00000142961|12477932|NM_145279|647|MOB_%20_kinase_%20_activators|CCDS539_%2C__%20_CCDS540|OTTHUMG00000007989|148932||NM_145279|Q70IA8|ENSG00000142961|uc001cqf.4|MOB3C_HUMAN||D3DQ22_%7C_Q0VA98_%7C_Q5TC10_%7C_Q5TC11_%7C_Q8NAZ2_%7C_Q8NF28|Q70IA8|||metal_%20_ion_%20_binding_%20_(GO:0046872)||||true|false|0.3578_%2C_0.6422_%2C_.|false|false|1||false|true|false|MOB3C:148932|true|true|true|true|true|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|6671527|47080679|false|false|0|true|0|false|0.472526_%2C_0.527474_%2C_.|false|false|false|SNV|true|0x050100080e0515053f000101|1|false|116|rs6671527|] -chr1 47904668 rs71053113 T TCCGCAC 4677.73 PASS FUNCOTATION=[FOXD2|hg19|chr1|47904668|47904669|IN_FRAME_INS||INS|-|-|CCGCAC|g.chr1:47904668_47904669insCCGCAC|ENST00000334793.5|+|1|2980|c.861_862insCCGCAC|c.(862-864)ccg>CCGCACccg|p.287_288insPH|0.795|GGCCCCGCATCCGCACCCGC|FOXD2-AS1_ENST00000445551.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||184|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||AL607122|NM_004474.3|NP_004465.3|HGNC:3803|forkhead_%20_box_%20_D2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FKHL17||FREAC9||1p33|2016-10-05|||AF042832||2306|ENSG00000186564|9403061_%2C__%20_12621056|NM_004474|508|Forkhead_%20_boxes|CCDS30708|OTTHUMG00000007950|2306|602211|NM_004474|O60548|ENSG00000186564|uc001crm.3|FOXD2_HUMAN||Q5SVZ3|O60548|transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.03554_%2C_0.9645_%2C_._%7C_0.03554_%2C_0.9645|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|false_%7C_false|FOXD2:2306_%7C_FOXD2:2306|false_%7C_true|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|3046924_%7C_71053113|47904668_%7C_47904686|true_%7C_true|false_%7C_false|0_%7C_0|true_%7C_true|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05010000000515003e000200_%7C_0x050100000005000102000200|1_%7C_1|false_%7C_false|102_%7C_130|rs3046924_%7C_rs71053113|_%7C_] -chr1 48569478 . C CTGTG 426.29 PASS FUNCOTATION=[AL109659.1|hg19|chr1|48569478|48569479|FRAME_SHIFT_INS||INS|-|-|TGTG|g.chr1:48569478_48569479insTGTG|ENST00000601108.1|+|1|173|c.173_174insTGTG|c.(172-174)tctfs|p.I65fs|0.465|GGTGTGTGTCTGTGTGTGTG||||||||||||||||||||||||||||||||||CH471059|||||||||||||||||||||||||||||||||||||||_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.9379_%2C_0.03135_%2C_0.03075_%7C_0.9379_%2C_0.03135_%2C_0.03075|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|SKINT1L:391037_%7C_SKINT1L:391037|false_%7C_false|false_%7C_false|true_%7C_true|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|373596514_%7C_879571472|48569478_%7C_48569497|false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x050000080005140026000200_%7C_0x050000080005000002000200|1_%7C_1|false_%7C_false|138_%7C_149|rs373596514_%7C_rs879571472|_%7C_] -chr1 48708228 rs850763 G T 386.25 PASS FUNCOTATION=[SLC5A9|hg19|chr1|48708228|48708228|NONSENSE||SNP|G|G|T|g.chr1:48708228G>T|ENST00000438567.2|+|13|1829|c.1777G>T|c.(1777-1779)Gag>Tag|p.E593*|0.5835411471321695|GCCAGCCGGGGAGTGCCCTGC|SLC5A9_ENST00000236495.5_NONSENSE_p.E618*/SLC5A9_ENST00000533824.1_NONSENSE_p.E614*/SLC5A9_ENST00000471020.1_INTRON|||||||||||||||||||||||||93|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_salivary_gland(1)_%7C_upper_aerodigestive_tract(1)|||||||CH471059|NM_001011547.2|NP_001011547.2|HGNC:22146|solute_%20_carrier_%20_family_%20_5_%20_member_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_5_%20_(sodium/glucose_%20_cotransporter)_%2C__%20_member_%20_9"_%2C__%20_"solute_%20_carrier_%20_family_%20_5_%20_(sodium/sugar_%20_cotransporter)_%2C__%20_member_%20_9"|SGLT4||1p33|2016-02-17||2016-02-17|BX648549||200010|ENSG00000117834||XM_117174|752|Solute_%20_carriers|CCDS30709_%2C__%20_CCDS44136|OTTHUMG00000007959|200010||NM_001011547|Q2M3M2|ENSG00000117834|uc001crn.3|SC5A9_HUMAN||B3KY87_%7C_B7ZL45_%7C_B7ZL47_%7C_E9PAK4_%7C_E9PJ08_%7C_Q5TET3|Q2M3M2|sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|transporter_%20_activity_%20_(GO:0005215)||||true|false|0.8862_%2C_0.1138|false|false|1||false|true|false|SLC5A9:200010|true|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|850763|48708228|true|false|0|true|0|false|0.859228_%2C_0.140772|false|false|false|SNV|true|0x050100000605150537000100|1|false|86|rs850763|] -chr1 50884773 rs4027495 CCGGCGG C 1244.13 PASS FUNCOTATION=[DMRTA2|hg19|chr1|50884774|50884779|IN_FRAME_DEL||DEL|CGGCGG|CGGCGG|-|g.chr1:50884774_50884779delCGGCGG|ENST00000404795.3|-|3|1586_1591|c.1187_1192delCCGCCG|c.(1186-1194)gccgccggg>ggg|p.AA396del|0.7807881773399015|CCAGGCCCCCCGGCGGCGGCGGCGGC|DMRTA2_ENST00000418121.1_IN_FRAME_DEL_p.AA396del|Colon(196_%3B_1651_%20_2045_%20_3292_%20_36497_%20_38236)_%7C_Esophageal_%20_Squamous(2_%3B_257_%20_258_%20_11567_%20_27043_%20_43804)||||||||||||||||||||||||||||||||AL049637|NM_032110.2|NP_115486.1|HGNC:13908|DMRT_%20_like_%20_family_%20_A2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DMRT-like_%20_family_%20_A2"|||1p32.3|2016-10-05||2016-01-19|AJ301580||63950|ENSG00000142700|11863363|NM_032110|||CCDS44141|OTTHUMG00000007884|63950|614804|NM_032110|Q96SC8|ENSG00000142700|uc010onb.3|DMTA2_HUMAN||Q5TFQ3|Q96SC8|cerebral_%20_cortex_%20_regionalization_%20_(GO:0021796)_%7C_dopaminergic_%20_neuron_%20_differentiation_%20_(GO:0071542)_%7C_neuron_%20_fate_%20_specification_%20_(GO:0048665)_%7C_positive_%20_regulation_%20_of_%20_neuroblast_%20_proliferation_%20_(GO:0002052)_%7C_skeletal_%20_muscle_%20_cell_%20_differentiation_%20_(GO:0035914)|nucleus_%20_(GO:0005634)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DMRTA2:63950_%7C_DMRTA2:63950|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|761537995_%7C_4027495|50884774_%7C_50884792|false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|false_%7C_false|0x050000000005000002000200_%7C_0x050000000005000002000200|1_%7C_1|false_%7C_false|144_%7C_108|rs761537995_%7C_rs4027495|_%7C_] -chr1 50884775 . G *,GGCA 1910.68 PASS FUNCOTATION=[DMRTA2|hg19|chr1|50884775|50884775|COULD_NOT_DETERMINE||NA|G|G|*||ENST00000404795.3|+||||||0.7805486284289277|CAGGCCCCCCGGCGGCGGCGG|DMRTA2_ENST00000418121.1_COULD_NOT_DETERMINE|Colon(196_%3B_1651_%20_2045_%20_3292_%20_36497_%20_38236)_%7C_Esophageal_%20_Squamous(2_%3B_257_%20_258_%20_11567_%20_27043_%20_43804)||||||||||||||||||||||||||||||||AL049637|NM_032110.2|NP_115486.1|HGNC:13908|DMRT_%20_like_%20_family_%20_A2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DMRT-like_%20_family_%20_A2"|||1p32.3|2016-10-05||2016-01-19|AJ301580||63950|ENSG00000142700|11863363|NM_032110|||CCDS44141|OTTHUMG00000007884|63950|614804|NM_032110|Q96SC8|ENSG00000142700|uc010onb.3|DMTA2_HUMAN||Q5TFQ3|Q96SC8|cerebral_%20_cortex_%20_regionalization_%20_(GO:0021796)_%7C_dopaminergic_%20_neuron_%20_differentiation_%20_(GO:0071542)_%7C_neuron_%20_fate_%20_specification_%20_(GO:0048665)_%7C_positive_%20_regulation_%20_of_%20_neuroblast_%20_proliferation_%20_(GO:0002052)_%7C_skeletal_%20_muscle_%20_cell_%20_differentiation_%20_(GO:0035914)|nucleus_%20_(GO:0005634)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||],[DMRTA2|hg19|chr1|50884775|50884776|IN_FRAME_INS||INS|-|-|GCA|g.chr1:50884775_50884776insGCA|ENST00000404795.3|-|3|1584|c.1190_1191insTGC|c.(1189-1191)gcc>gcTGCc|p.397_398insA|0.78|AGGCCCCCCGGCGGCGGCGG|DMRTA2_ENST00000418121.1_IN_FRAME_INS_p.397_398insA|Colon(196_%3B_1651_%20_2045_%20_3292_%20_36497_%20_38236)_%7C_Esophageal_%20_Squamous(2_%3B_257_%20_258_%20_11567_%20_27043_%20_43804)||||||||||||||||||||||||||||||||AL049637|NM_032110.2|NP_115486.1|HGNC:13908|DMRT_%20_like_%20_family_%20_A2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DMRT-like_%20_family_%20_A2"|||1p32.3|2016-10-05||2016-01-19|AJ301580||63950|ENSG00000142700|11863363|NM_032110|||CCDS44141|OTTHUMG00000007884|63950|614804|NM_032110|Q96SC8|ENSG00000142700|uc010onb.3|DMTA2_HUMAN||Q5TFQ3|Q96SC8|cerebral_%20_cortex_%20_regionalization_%20_(GO:0021796)_%7C_dopaminergic_%20_neuron_%20_differentiation_%20_(GO:0071542)_%7C_neuron_%20_fate_%20_specification_%20_(GO:0048665)_%7C_positive_%20_regulation_%20_of_%20_neuroblast_%20_proliferation_%20_(GO:0002052)_%7C_skeletal_%20_muscle_%20_cell_%20_differentiation_%20_(GO:0035914)|nucleus_%20_(GO:0005634)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 52306063 rs35723519 ATCT A 1359.12 PASS FUNCOTATION=[NRD1|hg19|chr1|52306064|52306066|IN_FRAME_DEL||DEL|TCT|TCT|-|g.chr1:52306064_52306066delTCT|ENST00000354831.7|-|2|655_657|c.462_464delAGA|c.(460-465)gaagat>gat|p.E154del|0.36476426799007444|TTCATCATCATCTTCTTCTTCTT|NRD1_ENST00000352171.7_IN_FRAME_DEL_p.E154del/NRD1_ENST00000539524.1_IN_FRAME_DEL_p.E22del/NRD1_ENST00000544028.1_IN_FRAME_DEL_p.E22del/NRD1_ENST00000485608.1_INTRON/MIR761_ENST00000390787.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||2178|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(2088)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_002525.2|NP_002516.2||||||||||||||||||||||||||||||NRDC_HUMAN||A6NI41_%7C_O15241_%7C_O15242_%7C_Q5VUL0_%7C_Q96HB2_%7C_Q9NU57|O43847|cell_%20_migration_%20_(GO:0016477)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_positive_%20_regulation_%20_of_%20_membrane_%20_protein_%20_ectodomain_%20_proteolysis_%20_(GO:0051044)_%7C_proteolysis_%20_(GO:0006508)_%7C_regulation_%20_of_%20_endopeptidase_%20_activity_%20_(GO:0052548)|cell_%20_surface_%20_(GO:0009986)_%7C_cytosol_%20_(GO:0005829)|epidermal_%20_growth_%20_factor_%20_binding_%20_(GO:0048408)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_metalloendopeptidase_%20_activity_%20_(GO:0004222)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.4383_%2C_0.5617_%7C_0.4383_%2C_0.5617|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|NRD1:4898_%7C_NRDC:4898_%7C_NRD1:4898_%7C_NRDC:4898|false_%7C_true|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|35723519_%7C_60220085|52306064_%7C_52306075|false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_true|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05000000000517003e000200_%7C_0x050100000005000102000200|1_%7C_1|false_%7C_false|126_%7C_129|rs35723519_%7C_rs60220085|_%7C_] -chr1 53925373 . G GCCGCCC 637.29 PASS FUNCOTATION=[DMRTB1|hg19|chr1|53925373|53925374|IN_FRAME_INS||INS|-|-|CCGCCC|g.chr1:53925373_53925374insCCGCCC|ENST00000371445.3|+|1|302|c.247_248insCCGCCC|c.(247-249)gcc>gCCGCCCcc|p.83_84insAP|0.7475|GCTGCGGCCGCCGCCCCCGC|DMRTB1_ENST00000463126.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_033067.1|NP_149056.1|HGNC:13913|DMRT_%20_like_%20_family_%20_B_%20_with_%20_proline_%20_rich_%20_C-terminal_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DMRT-like_%20_family_%20_B_%20_with_%20_proline-rich_%20_C-terminal_%2C__%20_1"|||1p32.3|2016-10-05||2015-11-23|AJ291671||63948|ENSG00000143006|||||CCDS581|OTTHUMG00000008080|63948|614805|NM_033067|Q96MA1|ENSG00000143006|uc001cvq.2|DMRTB_HUMAN||Q96SD2|Q96MA1|transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.8926_%2C_0.1074_%7C_0.8926_%2C_0.1074|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|false_%7C_false|DMRTB1:63948_%7C_DMRTB1:63948|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|575081928_%7C_766482978|53925373_%7C_53925379|false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x050000000005150026000200_%7C_0x050000000005000002000200|1_%7C_1|false_%7C_false|142_%7C_144|rs575081928_%7C_rs766482978|_%7C_] -chr1 55182300 rs1147990 T A 2208.94 PASS FUNCOTATION=[TTC4|hg19|chr1|55182300|55182300|MISSENSE||SNP|T|T|A|g.chr1:55182300T>A|ENST00000371281.3|+|2|226|c.139T>A|c.(139-141)Tcg>Acg|p.S47T|0.3915211970074813|CCTATTTATGTCGAGAGCGCC|TTC4_ENST00000371284.5_INTRON/MROH7-TTC4_ENST00000414150.2_NONSENSE_p.C1282*|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_004623.4|NP_004614.3|HGNC:12394|tetratricopeptide_%20_repeat_%20_domain_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC5097_%2C__%20_FLJ41930_%2C__%20_CNS1||1p32.3|2017-05-19|||||7268|ENSG00000243725|9933562|NM_004623|769|Tetratricopeptide_%20_repeat_%20_domain_%20_containing|CCDS596|OTTHUMG00000009914|7268|606753|NM_001291333|O95801|ENSG00000243725|uc001cxx.5|TTC4_HUMAN||Q53Y95_%7C_Q5TA96_%7C_Q9H3I2|O95801|||||||true|false|0.3317_%2C_0.6683|false|false|1||false|true|false|TTC4:7268_%7C_MROH7-TTC4:100527960|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|false|true|1147990|55182300|true|false|0|true|0|false|0.448314_%2C_0.551686|false|false|false|SNV|true|0x050128000a0515053f000101|1|false|87|rs1147990|] -chr1 55505552 rs113330492 A ACTG 1612.14 PASS FUNCOTATION=[PCSK9|hg19|chr1|55505552|55505553|IN_FRAME_INS||INS|-|-|CTG|g.chr1:55505552_55505553insCTG|ENST00000302118.5|+|1|332|c.42_43insCTG|c.(43-45)ctg>CTGctg|p.14_15insL|0.7075|GCCGCTGCCACTGCTGCTGC|PCSK9_ENST00000452118.2_IN_FRAME_INS_p.14_15insL/PCSK9_ENST00000543384.1_FIVE_PRIME_FLANK|Pancreas(137_%3B_1454_%20_1827_%20_5886_%20_22361_%20_42375)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||FJ525880|NM_174936.3|NP_777596.2|HGNC:20001|proprotein_%20_convertase_%20_subtilisin/kexin_%20_type_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HCHOLA3|"hypercholesterolemia_%2C__%20_autosomal_%20_dominant_%20_3"|NARC-1_%2C__%20_FH3||1p32.3|2017-03-24||2003-05-13|AX207686||255738|ENSG00000169174|12552133_%2C__%20_12730697|NM_174936|973|Proprotein_%20_convertase_%20_subtilisin/kexin_%20_family|CCDS603|OTTHUMG00000008136|255738|607786|NM_174936|Q8NBP7|ENSG00000169174|uc001cyf.3|PCSK9_HUMAN||A8T640_%7C_C0JYY9_%7C_Q5PSM5_%7C_Q5SZQ2|Q8NBP7|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_insulin_%20_stimulus_%20_(GO:0032869)_%7C_cellular_%20_response_%20_to_%20_starvation_%20_(GO:0009267)_%7C_cholesterol_%20_homeostasis_%20_(GO:0042632)_%7C_cholesterol_%20_metabolic_%20_process_%20_(GO:0008203)_%7C_kidney_%20_development_%20_(GO:0001822)_%7C_lipoprotein_%20_metabolic_%20_process_%20_(GO:0042157)_%7C_liver_%20_development_%20_(GO:0001889)_%7C_low-density_%20_lipoprotein_%20_particle_%20_receptor_%20_catabolic_%20_process_%20_(GO:0032802)_%7C_lysosomal_%20_transport_%20_(GO:0007041)_%7C_negative_%20_regulation_%20_of_%20_low-density_%20_lipoprotein_%20_particle_%20_clearance_%20_(GO:0010989)_%7C_negative_%20_regulation_%20_of_%20_receptor_%20_recycling_%20_(GO:0001920)_%7C_neurogenesis_%20_(GO:0022008)_%7C_neuron_%20_differentiation_%20_(GO:0030182)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_receptor_%20_internalization_%20_(GO:0002092)_%7C_protein_%20_autoprocessing_%20_(GO:0016540)_%7C_proteolysis_%20_(GO:0006508)_%7C_regulation_%20_of_%20_low-density_%20_lipoprotein_%20_particle_%20_receptor_%20_catabolic_%20_process_%20_(GO:0032803)_%7C_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043523)_%7C_regulation_%20_of_%20_receptor_%20_activity_%20_(GO:0010469)_%7C_triglyceride_%20_metabolic_%20_process_%20_(GO:0006641)|cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_early_%20_endosome_%20_(GO:0005769)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_ER_%20_to_%20_Golgi_%20_transport_%20_vesicle_%20_(GO:0030134)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extrinsic_%20_component_%20_of_%20_external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0031232)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_lysosome_%20_(GO:0005764)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_rough_%20_endoplasmic_%20_reticulum_%20_(GO:0005791)|apolipoprotein_%20_binding_%20_(GO:0034185)_%7C_apolipoprotein_%20_receptor_%20_binding_%20_(GO:0034190)_%7C_low-density_%20_lipoprotein_%20_particle_%20_binding_%20_(GO:0030169)_%7C_low-density_%20_lipoprotein_%20_particle_%20_receptor_%20_binding_%20_(GO:0050750)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_protein_%20_self-association_%20_(GO:0043621)_%7C_serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)_%7C_sodium_%20_channel_%20_inhibitor_%20_activity_%20_(GO:0019871)_%7C_very-low-density_%20_lipoprotein_%20_particle_%20_binding_%20_(GO:0034189)_%7C_very-low-density_%20_lipoprotein_%20_particle_%20_receptor_%20_binding_%20_(GO:0070326)|_%7C__%7C_|_%7C__%7C_|_%7C__%7C_|true_%7C_true_%7C_true|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|_%7C__%7C_|false_%7C_false_%7C_false|true_%7C_false_%7C_false|true_%7C_false_%7C_false|PCSK9:255738_%7C_PCSK9:255738_%7C_PCSK9:255738|true_%7C_true_%7C_true|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_true|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_true|false_%7C_false_%7C_true|false_%7C_false_%7C_false|true_%7C_true_%7C_true|false_%7C_false_%7C_false|45454392_%7C_113330492_%7C_35574083|55505554_%7C_55505563_%7C_55505575|false_%7C_false_%7C_false|false_%7C_false_%7C_false|0_%7C_0_%7C_1|false_%7C_true_%7C_true|0_%7C_0_%7C_0|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|DIV_%7C_DIV_%7C_DIV|true_%7C_false_%7C_true|0x050000020005070102000200_%7C_0x050100020005000102000200_%7C_0x050168020005040102100200|1_%7C_1_%7C_1|false_%7C_false_%7C_false|127_%7C_132_%7C_126|rs45454392_%7C_rs113330492_%7C_rs35574083|_%7C__%7C_] -chr1 100327026 rs2307129 C T 595.25 PASS FUNCOTATION=[AGL|hg19|chr1|100327026|100327026|INTRON||SNP|C|C|T|g.chr1:100327026C>T|ENST00000294724.4|+|||c.e3-33C>T|||0.32418952618453867|TTAAGTCCTACGATGAGTTTA|AGL_ENST00000361915.3_INTRON/AGL_ENST00000370163.3_INTRON/AGL_ENST00000370165.3_INTRON/AGL_ENST00000361522.4_DE_NOVO_START_IN_FRAME/AGL_ENST00000361302.3_INTRON/AGL_ENST00000370161.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U84011|NM_000028.2|NP_000019.2|HGNC:321|amylo-alpha-1_%2C__%20_6-glucosidase_%2C__%20_4-alpha-glucanotransferase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"amylo-1_%2C__%20_6-glucosidase_%2C__%20_4-alpha-glucanotransferase"||"glycogen_%20_debranching_%20_enzyme"_%2C__%20_"glycogen_%20_storage_%20_disease_%20_type_%20_III"|1p21.2|2016-10-05||2010-04-27|BC078663|2.4.1.25_%2C__%20_3.2.1.33|178|ENSG00000162688|1505983|NM_000028|||CCDS759_%2C__%20_CCDS760|OTTHUMG00000010803|178|610860|NM_000028|P35573|ENSG00000162688|uc001dsi.2|GDE_HUMAN||A6NCX7_%7C_A6NEK2_%7C_D3DT51_%7C_P78354_%7C_P78544_%7C_Q59H92_%7C_Q6AZ90_%7C_Q9UF08|P35573|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_glycogen_%20_biosynthetic_%20_process_%20_(GO:0005978)_%7C_glycogen_%20_catabolic_%20_process_%20_(GO:0005980)_%7C_response_%20_to_%20_glucocorticoid_%20_(GO:0051384)_%7C_response_%20_to_%20_nutrient_%20_(GO:0007584)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_inclusion_%20_body_%20_(GO:0016234)_%7C_isoamylase_%20_complex_%20_(GO:0043033)_%7C_nucleus_%20_(GO:0005634)_%7C_sarcoplasmic_%20_reticulum_%20_(GO:0016529)|4-alpha-glucanotransferase_%20_activity_%20_(GO:0004134)_%7C_amylo-alpha-1_%2C_6-glucosidase_%20_activity_%20_(GO:0004135)_%7C_glycogen_%20_debranching_%20_enzyme_%20_activity_%20_(GO:0004133)_%7C_polysaccharide_%20_binding_%20_(GO:0030247)||||true|false|0.7728_%2C_0.2272|false|false|1||false|true|true|AGL:178|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|2307129|100327026|true|false|0|true|0|false|0.729068_%2C_0.270932|false|false|true|SNV|true|0x05012848000517053f000100|1|false|100|rs2307129|] -chr1 104293194 . C T 36.34 PASS FUNCOTATION=[AMY1C|hg19|chr1|104293194|104293194|NONSENSE||SNP|C|C|T|g.chr1:104293194C>T|ENST00000370079.3|+|1|167|c.103C>T|c.(103-105)Cga>Tga|p.R35*|0.3740648379052369|GTTTGAATGGCGATGGGTTGA||||||||||||||||||||||||||||||||||M19233|NM_001008219.1|NP_001008220.1|HGNC:476|amylase_%2C__%20_alpha_%20_1C_%20_(salivary)|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AMY1|"amylase_%2C__%20_alpha_%20_1C_%3B__%20_salivary"|||1p21.1|2016-10-05||2007-05-03||3.2.1.1|278|ENSG00000187733||NM_001008219|||CCDS30784|OTTHUMG00000011045|278|104702|NM_001008219|P04745|ENSG00000187733|uc057itq.1|AMY1_HUMAN||A6NJS5_%7C_A8K8H6_%7C_Q13763_%7C_Q5T083|P04745|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_digestion_%20_(GO:0007586)|extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|alpha-amylase_%20_activity_%20_(GO:0004556)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||true|false||false|false|||false|false|false|AMY1C:278|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|938886200|104293194|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|false|0x050000000605000002000100|1|false|150|rs938886200|] -chr1 112162775 rs113172457 C T 995.10 PASS FUNCOTATION=[RAP1A|hg19|chr1|112162775|112162775|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:112162775C>T|ENST00000545460.1|+|1|||||0.7206982543640897|GAGCCAACCACGCCCGCGGAC|RAP1A_ENST00000369709.3_INTRON/RAP1A_ENST00000356415.1_INTRON/RAP1A_ENST00000436150.2_INTRON|||||||||||||||||||||||||803|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(323)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||X12533|||HGNC:9855|RAP1A_%2C__%20_member_%20_of_%20_RAS_%20_oncogene_%20_family|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KREV-1_%2C__%20_SMGP21||1p13.2|2016-10-05|||BC014086||5906|ENSG00000116473|3143720|NM_002884|389|RAS_%20_type_%20_GTPase_%20_family|CCDS840|OTTHUMG00000011959|5906|179520|NM_001010935|P62834|ENSG00000116473|uc001ebi.4|RAP1A_HUMAN||P10113|P62834|activation_%20_of_%20_MAPKK_%20_activity_%20_(GO:0000186)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cellular_%20_response_%20_to_%20_cAMP_%20_(GO:0071320)_%7C_cellular_%20_response_%20_to_%20_nerve_%20_growth_%20_factor_%20_stimulus_%20_(GO:1990090)_%7C_energy_%20_reserve_%20_metabolic_%20_process_%20_(GO:0006112)_%7C_establishment_%20_of_%20_endothelial_%20_barrier_%20_(GO:0061028)_%7C_negative_%20_regulation_%20_of_%20_synaptic_%20_vesicle_%20_exocytosis_%20_(GO:2000301)_%7C_nerve_%20_growth_%20_factor_%20_signaling_%20_pathway_%20_(GO:0038180)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_projection_%20_development_%20_(GO:0010976)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0045860)_%7C_positive_%20_regulation_%20_of_%20_Rap_%20_GTPase_%20_activity_%20_(GO:0032854)_%7C_positive_%20_regulation_%20_of_%20_vasculogenesis_%20_(GO:2001214)_%7C_protein_%20_transport_%20_(GO:0015031)_%7C_Rap_%20_protein_%20_signal_%20_transduction_%20_(GO:0032486)_%7C_regulation_%20_of_%20_cell_%20_junction_%20_assembly_%20_(GO:1901888)_%7C_regulation_%20_of_%20_insulin_%20_secretion_%20_(GO:0050796)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cell_%20_junction_%20_(GO:0030054)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_early_%20_endosome_%20_(GO:0005769)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_guanyl-nucleotide_%20_exchange_%20_factor_%20_complex_%20_(GO:0032045)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_neuron_%20_projection_%20_(GO:0043005)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)|GTP_%20_binding_%20_(GO:0005525)_%7C_GTPase_%20_activity_%20_(GO:0003924)_%7C_protein_%20_complex_%20_binding_%20_(GO:0032403)_%7C_protein_%20_transporter_%20_activity_%20_(GO:0008565)_%7C_Rap_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0017034)||||true|false|0.8762_%2C_0.1238|false|false|1||false|true|false|RAP1A:5906|false|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|113172457|112162775|false|false|0|true|0|false|0.89546_%2C_0.10454|false|false|true|SNV|true|0x050100480005150036000100|1|false|132|rs113172457|] -chr1 114447565 rs1217397 G A 1432.91 PASS FUNCOTATION=[AP4B1|hg19|chr1|114447565|114447565|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:114447565G>A|ENST00000369569.1|-|1|||||0.6309226932668329|AGGCCCTACCGTCGGCCGGCA|AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME/DCLRE1B_ENST00000369563.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369566.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369567.1_FIVE_PRIME_FLANK/DCLRE1B_ENST00000466480.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC014146|NM_001253852.1|NP_001240781.1|HGNC:572|adaptor_%20_related_%20_protein_%20_complex_%20_4_%20_beta_%20_1_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SPG47|"spastic_%20_paraplegia_%20_47"_%2C__%20_"adaptor-related_%20_protein_%20_complex_%20_4_%2C__%20_beta_%20_1_%20_subunit"|BETA-4|"beta_%20_4_%20_subunit_%20_of_%20_AP-4"_%2C__%20_"AP-4_%20_complex_%20_subunit_%20_beta-1"|1p13.2|2016-01-19||2016-01-12|AF092094||10717|ENSG00000134262|10066790|NM_006594|||CCDS865_%2C__%20_CCDS76192|OTTHUMG00000011943|10717|607245|NM_001253852|Q9Y6B7|ENSG00000134262|uc001eed.4|AP4B1_HUMAN||B7Z4X3_%7C_Q59EJ4_%7C_Q96CL6|Q9Y6B7|intracellular_%20_protein_%20_transport_%20_(GO:0006886)_%7C_vesicle-mediated_%20_transport_%20_(GO:0016192)|clathrin_%20_adaptor_%20_complex_%20_(GO:0030131)_%7C_coated_%20_pit_%20_(GO:0005905)_%7C_trans-Golgi_%20_network_%20_(GO:0005802)|protein_%20_transporter_%20_activity_%20_(GO:0008565)_%7C_transporter_%20_activity_%20_(GO:0005215)||||true|false|0.6705_%2C_0.3295|false|false|1||false|true|false|DCLRE1B:64858_%7C_AP4B1:10717|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1217397|114447565|true|false|0|true|0|false|0.586304_%2C_0.413696|false|false|true|SNV|true|0x0501004a000515053f000101|1|false|87|rs1217397|] -chr1 144364205 . G A 302.26 PASS FUNCOTATION=[PPIAL4B|hg19|chr1|144364205|144364205|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:144364205G>A|ENST00000540273.1|-|1|||||0.4114713216957606|TGATGGTGGCGTCTGCAAAGA|AL592284.1_ENST00000538264.1_INTRON|||||||||||||||||||||||||||||||||BX248398|NM_001143883.2|NP_001137355.1||||||||||||||||||||||||||||||PAL4A_HUMAN|||Q9Y536|protein_%20_folding_%20_(GO:0006457)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|peptidyl-prolyl_%20_cis-trans_%20_isomerase_%20_activity_%20_(GO:0003755)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr1 144864277 . G A 487.26 PASS FUNCOTATION=[PDE4DIP|hg19|chr1|144864277|144864277|NONSENSE||SNP|G|G|A|g.chr1:144864277G>A|ENST00000530740.1|-|38|6112|c.6073C>T|c.(6073-6075)Cga>Tga|p.R2025*|0.5211970074812967|AGGTGGGATCGAGAGGACAGC|PDE4DIP_ENST00000369359.4_NONSENSE_p.R2076*/PDE4DIP_ENST00000369356.4_NONSENSE_p.R1940*/PDE4DIP_ENST00000369354.3_NONSENSE_p.R1940*/PDE4DIP_ENST00000313382.9_NONSENSE_p.R1834*/RP4-791M13.4_ENST00000532137.1_RNA/PDE4DIP_ENST00000524974.1_INTRON||phosphodiesterase_%20_4D_%20_interacting_%20_protein_%20_(myomegalin)|9659|1|1q12|yes||MPD|||L|Dom|T|PDGFRB|||||||||||945|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(136)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_stomach(121)_%7C_upper_aerodigestive_tract(120)|||||||AL590452|||HGNC:15580|phosphodiesterase_%20_4D_%20_interacting_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CMYA2|"cardiomyopathy_%20_associated_%20_2"|KIAA0477_%2C__%20_KIAA0454_%2C__%20_MMGL|"myomegalin"|1q21.2|2016-10-05||2008-07-31|AB007923_%2C__%20_AB007946||9659|ENSG00000178104|9455484_%2C__%20_11134006|NM_022359|||CCDS72887_%2C__%20_CCDS72888_%2C__%20_CCDS72889_%2C__%20_CCDS72890_%2C__%20_CCDS72891_%2C__%20_CCDS72892_%2C__%20_CCDS72893_%2C__%20_CCDS72894|OTTHUMG00000013846|9659|608117|NM_001002810|Q5VU43|ENSG00000178104|uc031uvq.2|MYOME_HUMAN||A2RU15_%7C_O75042_%7C_O75065_%7C_Q2YDC1_%7C_Q5VU42_%7C_Q5VU44_%7C_Q5VU45_%7C_Q5VU46_%7C_Q5VU47_%7C_Q5VU48_%7C_Q5VU49_%7C_Q68DU2_%7C_Q6AZ93_%7C_Q6PK88_%7C_Q86T40_%7C_Q86TB2_%7C_Q8N3W0_%7C_Q8TAY9_%7C_Q9HCP2_%7C_Q9HCP3_%7C_Q9HCP4_%7C_Q9HCP5|Q5VU43|cellular_%20_protein_%20_complex_%20_assembly_%20_(GO:0043623)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_myofibril_%20_(GO:0030016)_%7C_nucleus_%20_(GO:0005634)|enzyme_%20_binding_%20_(GO:0019899)||||true|false||false|false|||false|false|false|PDE4DIP:9659|false|true|false|false|false|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|139257887|144864277|false|false|0|true|0|false||false|false|false|SNV|true|0x050100000e05040402000100|1|false|134|rs139257887|] -chr1 144916676 . C T 171.25 PASS FUNCOTATION=[PDE4DIP|hg19|chr1|144916676|144916676|NONSENSE||SNP|C|C|T|g.chr1:144916676C>T|ENST00000530740.1|-|16|2129|c.2090G>A|c.(2089-2091)tGg>tAg|p.W697*|0.40399002493765584|TTCTTTCAGCCACTGGAGGTT|PDE4DIP_ENST00000479408.2_NONSENSE_p.W347*/PDE4DIP_ENST00000313431.9_NONSENSE_p.W723*/PDE4DIP_ENST00000529945.1_NONSENSE_p.W723*/PDE4DIP_ENST00000369359.4_NONSENSE_p.W697*/PDE4DIP_ENST00000369356.4_NONSENSE_p.W560*/PDE4DIP_ENST00000369354.3_NONSENSE_p.W560*/PDE4DIP_ENST00000313382.9_NONSENSE_p.W626*/PDE4DIP_ENST00000369351.3_NONSENSE_p.W560*/PDE4DIP_ENST00000369349.3_NONSENSE_p.W560*||phosphodiesterase_%20_4D_%20_interacting_%20_protein_%20_(myomegalin)|9659|1|1q12|yes||MPD|||L|Dom|T|PDGFRB|||||||||||945|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(136)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_stomach(121)_%7C_upper_aerodigestive_tract(120)|||||||AL590452|||HGNC:15580|phosphodiesterase_%20_4D_%20_interacting_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CMYA2|"cardiomyopathy_%20_associated_%20_2"|KIAA0477_%2C__%20_KIAA0454_%2C__%20_MMGL|"myomegalin"|1q21.2|2016-10-05||2008-07-31|AB007923_%2C__%20_AB007946||9659|ENSG00000178104|9455484_%2C__%20_11134006|NM_022359|||CCDS72887_%2C__%20_CCDS72888_%2C__%20_CCDS72889_%2C__%20_CCDS72890_%2C__%20_CCDS72891_%2C__%20_CCDS72892_%2C__%20_CCDS72893_%2C__%20_CCDS72894|OTTHUMG00000013846|9659|608117|NM_001002810|Q5VU43|ENSG00000178104|uc031uvq.2|MYOME_HUMAN||A2RU15_%7C_O75042_%7C_O75065_%7C_Q2YDC1_%7C_Q5VU42_%7C_Q5VU44_%7C_Q5VU45_%7C_Q5VU46_%7C_Q5VU47_%7C_Q5VU48_%7C_Q5VU49_%7C_Q68DU2_%7C_Q6AZ93_%7C_Q6PK88_%7C_Q86T40_%7C_Q86TB2_%7C_Q8N3W0_%7C_Q8TAY9_%7C_Q9HCP2_%7C_Q9HCP3_%7C_Q9HCP4_%7C_Q9HCP5|Q5VU43|cellular_%20_protein_%20_complex_%20_assembly_%20_(GO:0043623)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_myofibril_%20_(GO:0030016)_%7C_nucleus_%20_(GO:0005634)|enzyme_%20_binding_%20_(GO:0019899)||||true|false||false|false|||false|true|true|PDE4DIP:9659|true|false|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|1698683|144916676|true|true|0|true|0|false||false|false|false|SNV|true|0x050300000605070116000100|1|false|89|rs1698683|] -chr1 145273366 rs140871032 C T 452.25 PASS FUNCOTATION=[NOTCH2NL|hg19|chr1|145273366|145273366|NONSENSE||SNP|C|C|T|g.chr1:145273366C>T|ENST00000369340.3|+|4|664|c.220C>T|c.(220-222)Cga>Tga|p.R74*|0.49875311720698257|CTTTGTGTCTCGACCTTGCCT|NOTCH2NL_ENST00000362074.6_NONSENSE_p.R74*/NOTCH2NL_ENST00000344859.3_NONSENSE_p.R74*/RP11-458D21.5_ENST00000468030.1_NONSENSE_p.R74*|||||||||||||||||||||||||242|breast(11)_%7C_kidney(1)_%7C_large_intestine(11)_%7C_lung(188)_%7C_skin(31)|||||||BX537434|||HGNC:31862|notch_%20_2_%20_N-terminal_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Notch_%20_homolog_%20_2_%20_(Drosophila)_%20_N-terminal_%20_like"|N2N||1q21.1|2016-10-05||2010-06-24|||388677|ENSG00000264343|14673143|NM_203458|||CCDS72880|OTTHUMG00000013754|388677||NM_203458|Q7Z3S9|ENSG00000264343|uc031uty.2|NT2NL_HUMAN||Q5BKT8_%7C_Q5VTG9_%7C_Q5XG84_%7C_Q6P192_%7C_Q8NC23_%7C_Q8WUQ9_%7C_Q96FY1|Q7Z3S9|cell_%20_differentiation_%20_(GO:0030154)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_Notch_%20_signaling_%20_pathway_%20_(GO:0007219)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||true|false||false|false|||false|true|false|NOTCH2NL:388677|false|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|140871032|145273366|false|true|0|true|0|false||false|false|false|SNV|true|0x050300000e05050002000100|1|false|134|rs140871032|] -chr1 151736876 rs1568485 C T 956.10 PASS FUNCOTATION=[OAZ3|hg19|chr1|151736876|151736876|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:151736876C>T|ENST00000479764.1|+|1|||||0.4239401496259352|TTTCCTCTTACGTATCCAAAG|OAZ3_ENST00000453029.2_INTRON/OAZ3_ENST00000321531.5_INTRON/OAZ3_ENST00000315067.8_INTRON/MRPL9_ENST00000368829.3_FIVE_PRIME_FLANK/MRPL9_ENST00000368830.3_FIVE_PRIME_FLANK/OAZ3_ENST00000400999.1_FIVE_PRIME_FLANK/RP11-98D18.3_ENST00000512280.1_RNA/RP11-98D18.2_ENST00000420382.1_FIVE_PRIME_FLANK/MRPL9_ENST00000467306.1_FIVE_PRIME_FLANK/OAZ3_ENST00000577465.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||AL589765|||HGNC:8097|ornithine_%20_decarboxylase_%20_antizyme_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q21.3|2014-11-19|||AF175296||51686|ENSG00000143450|10781085|NM_016178|||CCDS58028_%2C__%20_CCDS76216_%2C__%20_CCDS81378|OTTHUMG00000013061|51686|605138|NM_001134939|Q9UMX2|ENSG00000143450|uc010pdl.4|OAZ3_HUMAN|L-Ornithine(DB00129)|E7EUE7_%7C_Q6GMR0|Q9UMX2|cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_negative_%20_regulation_%20_of_%20_catalytic_%20_activity_%20_(GO:0043086)_%7C_negative_%20_regulation_%20_of_%20_polyamine_%20_transmembrane_%20_transport_%20_(GO:1902268)_%7C_polyamine_%20_biosynthetic_%20_process_%20_(GO:0006596)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_catabolic_%20_process_%20_(GO:0045732)_%7C_putrescine_%20_transport_%20_(GO:0015847)_%7C_regulation_%20_of_%20_cellular_%20_amino_%20_acid_%20_metabolic_%20_process_%20_(GO:0006521)_%7C_regulation_%20_of_%20_phosphoprotein_%20_phosphatase_%20_activity_%20_(GO:0043666)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_spermatogenesis_%20_(GO:0007283)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)_%7C_sperm_%20_flagellum_%20_(GO:0036126)|ornithine_%20_decarboxylase_%20_inhibitor_%20_activity_%20_(GO:0008073)_%7C_putrescine_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015489)||||true|false|0.2428_%2C_0.7572|false|false|1||false|true|false|OAZ3:51686_%7C_MRPL9:65005|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1568485|151736876|false|false|0|true|0|false|0.335394_%2C_0.664606|false|false|false|SNV|true|0x0501000a000515053f000100|1|false|88|rs1568485|] -chr1 152195728 rs34061715 AT A 2639.69 PASS FUNCOTATION=[HRNR|hg19|chr1|152195729|152195729|START_CODON_DEL||DEL|T|T|-|g.chr1:152195729delT|ENST00000368801.2|-|2|78|c.1delA|||0.3640897755610973|AGTTTAGGCATTTTTTTTTTT|FLG-AS1_ENST00000420707.1_RNA/FLG-AS1_ENST00000593011.1_RNA|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(4)_%7C_pancreas(22)|||||||BR000036|NM_001009931.2|NP_001009931.1|HGNC:20846|hornerin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||S100a18_%2C__%20_S100A16_%2C__%20_FLG3|"filaggrin_%20_family_%20_member_%20_3"|1q21.3|2015-09-07|||AB104446||388697|ENSG00000197915||XM_373868|1350_%7C_863|S100_%20_fused_%20_type_%20_protein_%20_family_%7C_EF-hand_%20_domain_%20_containing|CCDS30859|OTTHUMG00000012243|388697|616293|NM_001009931|Q86YZ3|ENSG00000197915|uc001ezt.3|HORN_HUMAN||Q5DT20_%7C_Q5U1F4|Q86YZ3|establishment_%20_of_%20_skin_%20_barrier_%20_(GO:0061436)_%7C_hematopoietic_%20_progenitor_%20_cell_%20_differentiation_%20_(GO:0002244)_%7C_keratinization_%20_(GO:0031424)|cornified_%20_envelope_%20_(GO:0001533)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)|_%7C__%7C_|_%7C__%7C_|_%7C__%7C_|true_%7C_true_%7C_true|false_%7C_false_%7C_false|0.07648_%2C_0.874_%7C_0.07648_%2C_0.874_%7C_0.07648_%2C_0.874|false_%7C_false_%7C_false|false_%7C_false_%7C_false|1_%7C_1_%7C_1|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_true_%7C_false|false_%7C_false_%7C_false|HRNR:388697_%7C_HRNR:388697_%7C_HRNR:388697|true_%7C_false_%7C_true|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_true_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|true_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|true_%7C_false_%7C_false|34061715_%7C_530205886_%7C_397824794|152195729_%7C_152195730_%7C_152195739|false_%7C_false_%7C_false|false_%7C_false_%7C_false|0_%7C_0_%7C_0|true_%7C_false_%7C_true|0_%7C_0_%7C_0|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_true_%7C_true|DIV_%7C_DIV_%7C_DIV|false_%7C_true_%7C_false|0x050100001205000102000200_%7C_0x050000400005150024000200_%7C_0x050100400005000102000200|1_%7C_1_%7C_1|false_%7C_false_%7C_false|134_%7C_142_%7C_138|rs34061715_%7C_rs530205886_%7C_rs397824794|_%7C__%7C_] -chr1 152770613 rs41268500 T G 414.25 PASS FUNCOTATION=[LCE1D|hg19|chr1|152770613|152770613|NONSTOP||SNP|T|T|G|g.chr1:152770613T>G|ENST00000326233.6|+|2|386|c.343T>G|c.(343-345)Tga>Gga|p.*115G|0.5960099750623441|AGGCTGCTGCTGAAGTGGACC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL353779|NM_178352.2|NP_848129.1|HGNC:29465|late_%20_cornified_%20_envelope_%20_1D|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||LEP4||1q21.3|2015-09-03|||||353134|ENSG00000172155|11698679|NM_178352|627|Late_%20_cornified_%20_envelope_%20_proteins|CCDS1025|OTTHUMG00000012444|353134|612606|NM_178352|Q5T752|ENSG00000172155|uc009wnp.3|LCE1D_HUMAN|||Q5T752|cellular_%20_response_%20_to_%20_calcium_%20_ion_%20_(GO:0071277)_%7C_cognition_%20_(GO:0050890)_%7C_keratinization_%20_(GO:0031424)|cornified_%20_envelope_%20_(GO:0001533)_%7C_cytoplasm_%20_(GO:0005737)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)|||||true|false|0.9419_%2C_0.05811|false|false|1||false|true|false|LCE1D:353134|false|false|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|41268500|152770613|false|false|0|true|0|false||false|false|false|SNV|true|0x050128000205150036000100|1|false|127|rs41268500|] -chr1 156124223 . T TG 479.29 PASS FUNCOTATION=[SEMA4A|hg19|chr1|156124223|156124224|FIVE_PRIME_UTR||INS|-|-|G|g.chr1:156124223_156124224insG|ENST00000368282.1|+|1|||||0.585|CTGCCCCAATGCCCCACCCC|SEMA4A_ENST00000368285.3_INTRON/SEMA4A_ENST00000355014.2_INTRON/SEMA4A_ENST00000368284.1_INTRON/SEMA4A_ENST00000368286.2_INTRON/SEMA4A_ENST00000487358.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC020974|||HGNC:10729|semaphorin_%20_4A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SEMAB|"sema_%20_domain_%2C__%20_immunoglobulin_%20_domain_%20_(Ig)_%2C__%20_transmembrane_%20_domain_%20_(TM)_%20_and_%20_short_%20_cytoplasmic_%20_domain_%2C__%20_(semaphorin)_%20_4A"|SemB_%2C__%20_FLJ12287_%2C__%20_CORD10||1q22|2016-01-14||2016-01-14|AK022416||64218|ENSG00000196189|7748561|NM_022367|736|Semaphorins|CCDS1132_%2C__%20_CCDS53378|OTTHUMG00000014042|64218|607292|NM_001193300|Q9H3S1|ENSG00000196189|uc001fnl.4|SEM4A_HUMAN||B2RDH8_%7C_B3KR76_%7C_Q5TCI5_%7C_Q5TCJ6_%7C_Q8WUA9|Q9H3S1|angiogenesis_%20_(GO:0001525)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_negative_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0016525)_%7C_regulation_%20_of_%20_cell_%20_shape_%20_(GO:0008360)_%7C_regulation_%20_of_%20_endothelial_%20_cell_%20_migration_%20_(GO:0010594)_%7C_semaphorin-plexin_%20_signaling_%20_pathway_%20_(GO:0071526)_%7C_T-helper_%20_1_%20_cell_%20_differentiation_%20_(GO:0045063)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|receptor_%20_activity_%20_(GO:0004872)||||true|false|0.9992_%2C_0.0007987|false|false|0||false|false|false|SEMA4A:64218|false|false|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|551865598|156124223|false|false|0|false|0|false|0.998832_%2C_0.00116766|false|false|false|DIV|true|0x050000080005040026000200|1|false|142|rs551865598|] -chr1 156213921 rs7513351 C T 744.25 PASS FUNCOTATION=[PAQR6|hg19|chr1|156213921|156213921|SILENT||SNP|C|C|T|g.chr1:156213921C>T|ENST00000292291.5|-|8|1193|c.1034G>A|c.(1033-1035)tGa>tAa|p.*345*|0.6359102244389028|GATGGGGCCTCACTGTTGTTT|PAQR6_ENST00000335852.1_MISSENSE_p.E263K/PAQR6_ENST00000368270.1_SILENT_p.*321*/PAQR6_ENST00000540423.1_SILENT_p.*342*/PAQR6_ENST00000356983.2_MISSENSE_p.E263K/PAQR6_ENST00000492619.1_INTRON|GBM(16_%3B_219_%20_398_%20_12385_%20_32425_%20_38531)||||||||||||||||||||||||68|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||FJ200492|NM_198406.2|NP_940798.1|HGNC:30132|progestin_%20_and_%20_adipoQ_%20_receptor_%20_family_%20_member_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"progestin_%20_and_%20_adipoQ_%20_receptor_%20_family_%20_member_%20_VI"|FLJ22672_%2C__%20_PRdelta||1q22|2016-10-05||2016-03-30|AF455045||79957|ENSG00000160781|18603275|NM_024897|930|Progestin_%20_and_%20_adipoQ_%20_receptor_%20_family|CCDS1135_%2C__%20_CCDS1136_%2C__%20_CCDS60301_%2C__%20_CCDS72945_%2C__%20_CCDS72946|OTTHUMG00000017490|79957|614579|NM_001272104|Q6TCH4|ENSG00000160781|uc001fnu.3|PAQR6_HUMAN||B7Z9R9_%7C_D3DVB4_%7C_D3DVB6_%7C_Q5TCK9_%7C_Q6PDU0_%7C_Q7Z4Q7_%7C_Q7Z4Q9_%7C_Q8N121_%7C_Q8N3M2_%7C_Q9H621|Q6TCH4||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|receptor_%20_activity_%20_(GO:0004872)||||true|false|0.7808_%2C_0.2192|false|false|1||false|true|true|PAQR6:79957|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|false|true|7513351|156213921|false|false|0|true|0|true|0.822275_%2C_0.177725|false|false|false|SNV|true|0x050128000b0517053f000100|1|false|116|rs7513351|] -chr1 159174123 rs3027012 C T 751.12 PASS FUNCOTATION=[DARC|hg19|chr1|159174123|159174123|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:159174123C>T|ENST00000368122.2|+|1|||||0.5336658354114713|ACACAGCAAACGTACACAGAG|DARC_ENST00000537147.1_DE_NOVO_START_OUT_FRAME/DARC_ENST00000368121.2_FIVE_PRIME_FLANK/CTA-134P22.2_ENST00000609696.1_RNA/CTA-134P22.2_ENST00000415675.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||615|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||X85785|NM_002036.3|NP_002027.2||||||||||||||||||||||||||||||ACKR1_HUMAN||A8YPG5_%7C_O75898_%7C_Q16300_%7C_Q8WWE3_%7C_Q9UJP0_%7C_Q9UKZ5_%7C_Q9UKZ6_%7C_Q9UQE1|Q16570|chemokine-mediated_%20_signaling_%20_pathway_%20_(GO:0070098)_%7C_defense_%20_response_%20_(GO:0006952)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_regulation_%20_of_%20_chemokine_%20_production_%20_(GO:0032642)|endosome_%20_(GO:0005768)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|C-C_%20_chemokine_%20_binding_%20_(GO:0019957)_%7C_G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_receptor_%20_activity_%20_(GO:0004872)_%7C_transmembrane_%20_signaling_%20_receptor_%20_activity_%20_(GO:0004888)||||true|false|0.9085_%2C_0.09145|false|false|1||false|true|false|CADM3-AS1:100131825_%7C_ACKR1:2532|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3027012|159174123|false|false|0|true|0|false|0.887492_%2C_0.112508|false|false|true|SNV|true|0x05010042000515053f000100|1|false|102|rs3027012|] -chr1 161601097 rs67020125 C A 447.25 PASS FUNCOTATION=[FCGR3B|hg19|chr1|161601097|161601097|INTRON||SNP|C|C|A|g.chr1:161601097C>A|ENST00000367964.2|-|||c.e2+169G>T|||0.5361596009975063|AGGAAAGAGCCTGGAGGCAAG|FCGR3B_ENST00000294800.3_DE_NOVO_START_OUT_FRAME/FCGR2B_ENST00000403078.3_INTRON/FCGR2B_ENST00000367962.4_INTRON/FCGR2B_ENST00000367960.5_INTRON/FCGR2B_ENST00000428605.2_INTRON/FCGR3B_ENST00000531221.1_FIVE_PRIME_FLANK/FCGR3A_ENST00000540048.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||37|central_nervous_system(22)_%7C_soft_tissue(14)_%7C_upper_aerodigestive_tract(1)|||||||Z46223|NM_001271036.1|NP_001257965.1|HGNC:3620|Fc_%20_fragment_%20_of_%20_IgG_%20_receptor_%20_IIIb|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FCGR3_%2C__%20_FCG3|"Fc_%20_fragment_%20_of_%20_IgG_%2C__%20_low_%20_affinity_%20_IIIb_%2C__%20_receptor_%20_for_%20_(CD16)"_%2C__%20_"Fc_%20_fragment_%20_of_%20_IgG_%2C__%20_low_%20_affinity_%20_IIIb_%2C__%20_receptor_%20_(CD16b)"|CD16_%2C__%20_CD16b|"Fc_%20_gamma_%20_receptor_%20_IIIb"|1q23.3|2016-10-05||2016-01-13|J04162||2215|ENSG00000162747|2139735|NM_000570|471_%7C_594|CD_%20_molecules_%7C_Immunoglobulin_%20_like_%20_domain_%20_containing|CCDS41433_%2C__%20_CCDS58040_%2C__%20_CCDS72960_%2C__%20_CCDS72961|OTTHUMG00000074099|2215|610665|NM_000570|O75015|ENSG00000162747|uc021pdo.2|FCG3B_HUMAN|Abciximab(DB00054)_%7C_Adalimumab(DB00051)_%7C_Alefacept(DB00092)_%7C_Alemtuzumab(DB00087)_%7C_Basiliximab(DB00074)_%7C_Bevacizumab(DB00112)_%7C_Cetuximab(DB00002)_%7C_Daclizumab(DB00111)_%7C_Efalizumab(DB00095)_%7C_Etanercept(DB00005)_%7C_Gemtuzumab_%20_ozogamicin(DB00056)_%7C_Ibritumomab(DB00078)_%7C_Intravenous_%20_Immunoglobulin(DB00028)_%7C_Muromonab(DB00075)_%7C_Natalizumab(DB00108)_%7C_Palivizumab(DB00110)_%7C_Rituximab(DB00073)_%7C_Tositumomab(DB00081)_%7C_Trastuzumab(DB00072)||O75015|immune_%20_response_%20_(GO:0006955)|anchored_%20_component_%20_of_%20_membrane_%20_(GO:0031225)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||true|false|0.9058_%2C_0.09425|false|false|1||false|true|true|FCGR3B:2215|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|67020125|161601097|false|false|0|true|0|false||false|false|true|SNV|true|0x0501004a000517043e000100|1|false|130|rs67020125|] -chr1 167385324 rs34032944 TA T 301.38 PASS FUNCOTATION=[POU2F1|hg19|chr1|167385325|167385325|THREE_PRIME_UTR||DEL|A|A|-|g.chr1:167385325delA|ENST00000367862.5|+|16|||||0.3266832917705736|ACCAAAAATTAAAAAAAAAAA|POU2F1_ENST00000367866.2_THREE_PRIME_UTR/POU2F1_ENST00000420254.3_NONSTOP_p.K656fs/POU2F1_ENST00000367865.1_INTRON|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||X13403|NM_001198783.1|NP_001185712.1|HGNC:9212|POU_%20_class_%20_2_%20_homeobox_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|OTF1|"POU_%20_domain_%20_class_%20_2_%2C__%20_transcription_%20_factor_%20_1"|OCT1||1q24.2|2016-04-25||2007-07-13|BC001664||5451|ENSG00000143190|1887216|NM_002697|523|POU_%20_class_%20_homeoboxes_%20_and_%20_pseudogenes|CCDS1259_%2C__%20_CCDS55655_%2C__%20_CCDS55656|OTTHUMG00000034436|5451|164175|NM_001198783|P14859|ENSG00000143190|uc001gee.3|PO2F1_HUMAN||B1AL91_%7C_B1AL93_%7C_B4E029_%7C_J3KP77_%7C_Q5TBT7_%7C_Q6PK46_%7C_Q8NEU9_%7C_Q9BPV1|P14859|gene_%20_expression_%20_(GO:0010467)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_transcription_%20_from_%20_RNA_%20_polymerase_%20_III_%20_promoter_%20_(GO:0006383)|cytoplasm_%20_(GO:0005737)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.3023_%2C_0.6977_%7C_0.3023_%2C_0.6977|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|POU2F1:5451_%7C_POU2F1:5451|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|34032944_%7C_779631157|167385325_%7C_167385326|false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|true_%7C_true|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x050000800005170026000200_%7C_0x050000800005000002000200|1_%7C_1|false_%7C_false|126_%7C_144|rs34032944_%7C_rs779631157|_%7C_] -chr1 196757960 rs116394410 G A 269.25 PASS FUNCOTATION=[CFHR3|hg19|chr1|196757960|196757960|INTRON||SNP|G|G|A|g.chr1:196757960G>A|ENST00000367425.4|+|||c.e4+432G>A|||0.3765586034912718|ATTTCTGCTAGCGTCAGGAGA|CFHR3_ENST00000471440.2_SILENT_p.*233*/CFHR3_ENST00000391985.3_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X68679|NM_021023.5|NP_066303.2|HGNC:16980|complement_%20_factor_%20_H_%20_related_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CFHL3|"complement_%20_factor_%20_H-related_%20_3"|FHR-3_%2C__%20_HLF4_%2C__%20_FHR3_%2C__%20_DOWN16||1q31.3|2017-03-24|2006-02-28|2016-01-19|X68679||10878|ENSG00000116785|8428964_%2C__%20_10380701|NM_021023|1179_%7C_492|Sushi_%20_domain_%20_containing_%7C_Complement_%20_system|CCDS30958_%2C__%20_CCDS53453|OTTHUMG00000035929|10878|605336|NM_001166624|Q02985|ENSG00000116785|uc001gtl.4|FHR3_HUMAN||B4DPR0_%7C_Q9UJ16|Q02985||blood_%20_microparticle_%20_(GO:0072562)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|||||true|false|0.9952_%2C_0.004792|false|false|1||false|false|false|CFHR3:10878|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|116394410|196757960|false|false|0|true|0|true||false|false|false|SNV|true|0x050100080305040436000100|1|false|132|rs116394410|] -chr1 230829139 rs1051038 A G 990.12 PASS FUNCOTATION=[COG2|hg19|chr1|230829139|230829139|SILENT||SNP|A|A|G|g.chr1:230829139A>G|ENST00000366669.4|+|18|2332|c.2217A>G|c.(2215-2217)taA>taG|p.*739*|0.4513715710723192|AGCAGCCTTAAGCATCTTGGA|COG2_ENST00000366668.3_SILENT_p.*738*/COG2_ENST00000534989.1_SILENT_p.*680*/COG2_ENST00000535166.1_SILENT_p.*623*/COG2_ENST00000546013.1_SILENT_p.*428*|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||Z34975|NM_007357.2|NP_031383.1|HGNC:6546|component_%20_of_%20_oligomeric_%20_golgi_%20_complex_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|LDLC|"low_%20_density_%20_lipoprotein_%20_receptor_%20_defect_%20_C_%20_complementing"|||1q42.2|2014-11-18|2002-05-31|2002-05-28|Z34975||22796|ENSG00000135775|7962052|NM_007357|493|Components_%20_of_%20_oligomeric_%20_golgi_%20_complex|CCDS1584_%2C__%20_CCDS44329|OTTHUMG00000037753|22796|606974|NM_001145036|Q14746|ENSG00000135775|uc001htw.4|COG2_HUMAN||Q86U99|Q14746|Golgi_%20_organization_%20_(GO:0007030)_%7C_intra-Golgi_%20_vesicle-mediated_%20_transport_%20_(GO:0006891)_%7C_intracellular_%20_protein_%20_transport_%20_(GO:0006886)_%7C_oligosaccharide_%20_biosynthetic_%20_process_%20_(GO:0009312)_%7C_protein_%20_glycosylation_%20_(GO:0006486)|cytosol_%20_(GO:0005829)_%7C_Golgi_%20_membrane_%20_(GO:0000139)_%7C_Golgi_%20_stack_%20_(GO:0005795)_%7C_Golgi_%20_transport_%20_complex_%20_(GO:0017119)|protein_%20_transporter_%20_activity_%20_(GO:0008565)||||true|false|0.6554_%2C_0.3446|false|false|1||false|true|true|COG2:22796|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|1051038|230829139|false|false|0|true|0|true|0.75577_%2C_0.24423|false|false|false|SNV|true|0x05012800030517053f000100|1|false|86|rs1051038|] -chr2 242800 rs10181051 T C 356.25 PASS FUNCOTATION=[SH3YL1|hg19|chr2|242800|242800|INTRON||SNP|T|T|C|g.chr2:242800T>C|ENST00000405430.1|-|||c.e6-4738A>G|||0.2967581047381546|AAAGTTACCATTAGATTGACA|SH3YL1_ENST00000356150.5_INTRON/SH3YL1_ENST00000403657.1_START_CODON_SNP_p.M1V/SH3YL1_ENST00000403658.1_START_CODON_SNP_p.M1V/SH3YL1_ENST00000402632.1_INTRON/SH3YL1_ENST00000403712.2_INTRON/SH3YL1_ENST00000415006.2_START_CODON_SNP_p.M1V/SH3YL1_ENST00000468321.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||CR457361|||HGNC:29546|SH3_%20_and_%20_SYLF_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"SH3_%20_domain_%20_containing_%2C__%20_Ysc84-like_%20_1_%20_(S._%20_cerevisiae)"|Ray_%2C__%20_DKFZP586F1318||2p25.3|2016-04-25||2013-10-18|||26751|ENSG00000035115|21624956|NM_015677|||CCDS42646_%2C__%20_CCDS54332_%2C__%20_CCDS62841_%2C__%20_CCDS62842|OTTHUMG00000151359|26751|617314|NM_001159597|Q96HL8|ENSG00000035115|uc061fxl.1|SH3Y1_HUMAN||A8K8E7_%7C_B7WNJ4_%7C_B7WPL6_%7C_Q8NEL2_%7C_Q9H5X4_%7C_Q9Y3V5|Q96HL8|phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_regulation_%20_of_%20_ruffle_%20_assembly_%20_(GO:1900027)|ruffle_%20_membrane_%20_(GO:0032587)|phosphatase_%20_binding_%20_(GO:0019902)_%7C_phosphatidylinositol_%20_binding_%20_(GO:0035091)||||true|false|0.6745_%2C_0.3255_%2C_.|false|false|1||false|true|true|SH3YL1:26751|true|true|true|true|true|false|true|false|false|false|false|true|false|false|false|true|true|false|false|true|10181051|242800|false|false|0|true|0|false|0.709198_%2C_0.290802_%2C_.|false|false|false|SNV|true|0x050128080a0517053f020100|1|false|119|rs10181051|] -chr2 260677 rs10188763 G A 729.25 PASS FUNCOTATION=[SH3YL1|hg19|chr2|260677|260677|INTRON||SNP|G|G|A|g.chr2:260677G>A|ENST00000405430.1|-|||c.e3-1954C>T|||0.43640897755610975|GGACTTCTTCGTCAAATGGAC|SH3YL1_ENST00000356150.5_INTRON/SH3YL1_ENST00000403657.1_DE_NOVO_START_IN_FRAME/SH3YL1_ENST00000402632.1_INTRON/SH3YL1_ENST00000403712.2_INTRON/SH3YL1_ENST00000403658.1_INTRON/ACP1_ENST00000272065.5_FIVE_PRIME_FLANK/ACP1_ENST00000272067.6_FIVE_PRIME_FLANK/ACP1_ENST00000405233.1_FIVE_PRIME_FLANK/ACP1_ENST00000407983.3_FIVE_PRIME_FLANK/ACP1_ENST00000439645.2_FIVE_PRIME_FLANK/SH3YL1_ENST00000468321.1_INTRON/ACP1_ENST00000484464.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||CR457361|||HGNC:29546|SH3_%20_and_%20_SYLF_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"SH3_%20_domain_%20_containing_%2C__%20_Ysc84-like_%20_1_%20_(S._%20_cerevisiae)"|Ray_%2C__%20_DKFZP586F1318||2p25.3|2016-04-25||2013-10-18|||26751|ENSG00000035115|21624956|NM_015677|||CCDS42646_%2C__%20_CCDS54332_%2C__%20_CCDS62841_%2C__%20_CCDS62842|OTTHUMG00000151359|26751|617314|NM_001159597|Q96HL8|ENSG00000035115|uc061fxl.1|SH3Y1_HUMAN||A8K8E7_%7C_B7WNJ4_%7C_B7WPL6_%7C_Q8NEL2_%7C_Q9H5X4_%7C_Q9Y3V5|Q96HL8|phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_regulation_%20_of_%20_ruffle_%20_assembly_%20_(GO:1900027)|ruffle_%20_membrane_%20_(GO:0032587)|phosphatase_%20_binding_%20_(GO:0019902)_%7C_phosphatidylinositol_%20_binding_%20_(GO:0035091)||||true|false|0.6895_%2C_0.3105|false|false|1||false|true|true|SH3YL1:26751|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10188763|260677|false|false|0|true|0|false|0.737327_%2C_0.262673|false|false|false|SNV|true|0x05010008000517053f000100|1|false|119|rs10188763|] -chr2 3519572 rs6422707 A C 3016.89 PASS FUNCOTATION=[ADI1|hg19|chr2|3519572|3519572|INTRON||SNP|A|A|C|g.chr2:3519572A>C|ENST00000327435.6|-|||c.e2+1825T>G|||0.428927680798005|CCAGCTGTAAAATTCCTCTCT|ADI1_ENST00000382093.5_DE_NOVO_START_IN_FRAME/AC142528.1_ENST00000450917.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471053|NM_018269.3|NP_060739.2|HGNC:30576|acireductone_%20_dioxygenase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SIPL_%2C__%20_MTCBP-1_%2C__%20_ARD_%2C__%20_APL1_%2C__%20_FLJ10913_%2C__%20_HMFT1638_%2C__%20_mtnD|"membrane-type_%20_1_%20_matrix_%20_metalloproteinase_%20_cytoplasmic_%20_tail_%20_binding_%20_protein-1"|2p25.3|2016-10-05||||1.13.11.54|55256|ENSG00000182551|14718544_%2C__%20_15938715|NM_018269|||CCDS1653_%2C__%20_CCDS77380|OTTHUMG00000112441|55256|613400|NM_001306077|Q9BV57|ENSG00000182551|uc002qxp.5|||||||||||true|false|0.3085_%2C_0.6915|false|false|1||false|true|true|ADI1:55256|true|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6422707|3519572|false|false|0|true|0|false|0.327621_%2C_0.672379|false|false|true|SNV|true|0x050100480005170136000100|1|false|116|rs6422707|] -chr2 10281514 rs17313542 C T 321.25 PASS FUNCOTATION=[C2orf48|hg19|chr2|10281514|10281514|DE_NOVO_START_IN_FRAME||SNP|C|C|T|g.chr2:10281514C>T|ENST00000381786.3|+|1|||||0.5785536159600998|CACCTAGCTACGCTCACTGAC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC094001|NM_182626.2|NP_872432.1|HGNC:26322|chromosome_%20_2_%20_open_%20_reading_%20_frame_%20_48|Approved|unknown|other|||FLJ25102||2p25.1|2016-09-30|||AK057831||348738|ENSG00000163009|12477932|NM_182626||||OTTHUMG00000119017|348738||NM_182626|Q96LS8|ENSG00000163009|uc021vds.2|CB048_HUMAN|||Q96LS8|||||||true|false|0.9497_%2C_0.05032|false|false|1||false|true|false|C2orf48:348738|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|17313542|10281514|false|false|0|true|0|false|0.949959_%2C_0.0500412|false|false|true|SNV|true|0x050100400005150537000101|1|false|123|rs17313542|] -chr2 20251675 rs1513829 G C 720.25 PASS FUNCOTATION=[LAPTM4A|hg19|chr2|20251675|20251675|DE_NOVO_START_IN_FRAME||SNP|G|G|C|g.chr2:20251675G>C|ENST00000175091.4|-|1|||||0.571072319201995|CTATTCCCGAGATGAGACCCG|RP11-644K8.1_ENST00000452342.2_FIVE_PRIME_FLANK|Ovarian(90_%3B_1240_%20_1386_%20_7711_%20_14384_%20_46863)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||D14696|NM_014713.4|NP_055528.1|HGNC:6924|lysosomal_%20_protein_%20_transmembrane_%20_4_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MBNT|"lysosomal-associated_%20_protein_%20_transmembrane_%20_4_%20_alpha"|HUMORF13_%2C__%20_KIAA0108_%2C__%20_Mtrp_%2C__%20_LAPTM4||2p24.1|2014-11-19||2008-08-11|D14696||9741|ENSG00000068697|8621662_%2C__%20_7788527|NM_014713|||CCDS1696|OTTHUMG00000090750|9741||NM_014713|Q15012|ENSG00000068697|uc002rdm.3|LAP4A_HUMAN||Q6UW22|Q15012|transport_%20_(GO:0006810)|Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.4431_%2C_0.5569|false|false|1||false|true|true|LAPTM4A:9741|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1513829|20251675|false|false|0|true|0|false|0.558696_%2C_0.441304|false|false|true|SNV|true|0x05010042000517053f000101|1|false|88|rs1513829|] -chr2 24395506 rs889830 T C 2849.69 PASS FUNCOTATION=[FAM228A|hg19|chr2|24395506|24395506|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr2:24395506T>C|ENST00000295150.3|+||||||0.4688279301745636|CGGACTCAAGTGATCCTCCCA|RP11-507M3.1_ENST00000584973.1_NONSTOP_p.*204R/AC008073.7_ENST00000428344.1_RNA/AC008073.7_ENST00000438414.1_RNA|||||||||||||||||||||||||||||||||CH471053|NM_001040710.1|NP_001035800.1|HGNC:34418|family_%20_with_%20_sequence_%20_similarity_%20_228_%20_member_%20_A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C2orf84|"chromosome_%20_2_%20_open_%20_reading_%20_frame_%20_84"_%2C__%20_"family_%20_with_%20_sequence_%20_similarity_%20_228_%2C__%20_member_%20_A"|FLJ30851||2p23.3|2016-09-30|2012-07-04|2015-11-18|||653140|ENSG00000186453||NM_001040710|||CCDS42659|OTTHUMG00000151903|653140||NM_001040710|Q86W67|ENSG00000186453|uc002rfc.3|F228A_HUMAN|||Q86W67|||||||true|false|0.1865_%2C_0.8135|false|false|1||false|true|true|FAM228A:653140|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|889830|24395506|false|false|0|true|0|false|0.232209_%2C_0.767791|false|false|false|SNV|true|0x050100020005170136000100|1|false|86|rs889830|] -chr2 26477125 rs59947000 G GACT 4547.73 PASS FUNCOTATION=[HADHB|hg19|chr2|26477125|26477126|IN_FRAME_INS||INS|-|-|ACT|g.chr2:26477125_26477126insACT|ENST00000317799.5|+|2|107|c.3_4insACT|c.(4-6)act>ACTact|p.1_2insT|0.325|TTCCAGAATGACTATCTTGA|HADHB_ENST00000405867.3_IN_FRAME_INS_p.1_2insT/HADHB_ENST00000537713.1_IN_FRAME_INS_p.1_2insT/HADHB_ENST00000545822.1_FIVE_PRIME_UTR|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||D86850|NM_001281512.1|NP_001268441.1|HGNC:4803|hydroxyacyl-CoA_%20_dehydrogenase_%20_trifunctional_%20_multienzyme_%20_complex_%20_subunit_%20_beta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"hydroxyacyl-Coenzyme_%20_A_%20_dehydrogenase/3-ketoacyl-Coenzyme_%20_A_%20_thiolase/enoyl-Coenzyme_%20_A_%20_hydratase_%20_(trifunctional_%20_protein)_%2C__%20_beta_%20_subunit"_%2C__%20_"hydroxyacyl-CoA_%20_dehydrogenase/3-ketoacyl-CoA_%20_thiolase/enoyl-CoA_%20_hydratase_%20_(trifunctional_%20_protein)_%2C__%20_beta_%20_subunit"|MTPB|"mitochondrial_%20_trifunctional_%20_protein_%2C__%20_beta_%20_subunit"|2p23.3|2017-09-15||2017-09-15||2.3.1.16|3032|ENSG00000138029|9605857|NM_000183|||CCDS1722_%2C__%20_CCDS62871_%2C__%20_CCDS62872|OTTHUMG00000096978|3032|143450|NM_000183|P55084|ENSG00000138029|uc002rgz.4|ECHB_HUMAN||B2RB16_%7C_B4E2W0_%7C_O14969_%7C_Q53TA6_%7C_Q96C77_%7C_Q9H3F5_%7C_Q9T2V8|P55084|cardiolipin_%20_acyl-chain_%20_remodeling_%20_(GO:0035965)_%7C_cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_fatty_%20_acid_%20_beta-oxidation_%20_(GO:0006635)_%7C_glycerophospholipid_%20_biosynthetic_%20_process_%20_(GO:0046474)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrial_%20_envelope_%20_(GO:0005740)_%7C_mitochondrial_%20_fatty_%20_acid_%20_beta-oxidation_%20_multienzyme_%20_complex_%20_(GO:0016507)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_nucleoid_%20_(GO:0042645)_%7C_mitochondrial_%20_outer_%20_membrane_%20_(GO:0005741)_%7C_mitochondrion_%20_(GO:0005739)|3-hydroxyacyl-CoA_%20_dehydrogenase_%20_activity_%20_(GO:0003857)_%7C_acetyl-CoA_%20_C-acyltransferase_%20_activity_%20_(GO:0003988)_%7C_enoyl-CoA_%20_hydratase_%20_activity_%20_(GO:0004300)_%7C_fatty-acyl-CoA_%20_binding_%20_(GO:0000062)_%7C_long-chain-3-hydroxyacyl-CoA_%20_dehydrogenase_%20_activity_%20_(GO:0016509)_%7C_long-chain-enoyl-CoA_%20_hydratase_%20_activity_%20_(GO:0016508)_%7C_NAD_%20_binding_%20_(GO:0051287)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||true|false|0.2905_%2C_0.7095|false|false|1||false|false|false|HADHB:3032|false|false|false|false|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|1064793144|26477125|false|false|0|false|0|false||false|false|true|DIV|false|0x050060400005000002100200|1|false|150|rs1064793144|] -chr2 69659126 rs4453725 A T 1997.94 PASS FUNCOTATION=[NFU1|hg19|chr2|69659126|69659126|MISSENSE||SNP|A|A|T|g.chr2:69659126A>T|ENST00000410022.2|-|2|280|c.74T>A|c.(73-75)aTg>aAg|p.M25K|0.32917705735660846|ATTCTTCAACATATGACAGAA|NFU1_ENST00000303698.3_START_CODON_SNP_p.M1K/NFU1_ENST00000394305.1_FIVE_PRIME_UTR/NFU1_ENST00000471185.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||DB304061|NM_001002755.2|NP_001002755.1|HGNC:16287|NFU1_%20_iron-sulfur_%20_cluster_%20_scaffold|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HIRIP5|"HIRA_%20_interacting_%20_protein_%20_5"_%2C__%20_"NFU1_%20_iron-sulfur_%20_cluster_%20_scaffold_%20_homolog_%20_(S._%20_cerevisiae)"|CGI-33_%2C__%20_NifU_%2C__%20_NIFUC||2p13.3|2016-10-05|2006-10-24|2014-07-03|AJ132584||27247|ENSG00000169599|11342215_%2C__%20_12886008|NM_015700|||CCDS33217_%2C__%20_CCDS42694_%2C__%20_CCDS46315|OTTHUMG00000152668|27247|608100|NM_001002755|Q9UMS0|ENSG00000169599|uc002sfk.4|NFU1_HUMAN||B4DUL9_%7C_Q53QE5_%7C_Q6VNZ8_%7C_Q7Z5B1_%7C_Q7Z5B2_%7C_Q9Y322|Q9UMS0|iron-sulfur_%20_cluster_%20_assembly_%20_(GO:0016226)|cytosol_%20_(GO:0005829)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|4_%20_iron_%2C__%20_4_%20_sulfur_%20_cluster_%20_binding_%20_(GO:0051539)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)||||true|false|0.6829_%2C_0.3171|false|false|1||false|true|true|NFU1:27247|true|true|false|true|true|true|false|false|false|false|false|true|false|false|false|true|false|false|false|true|4453725|69659126|true|false|1|true|0|false|0.641434_%2C_0.358566|false|false|true|SNV|true|0x050160400a0517053f100100|1|false|111|rs4453725|] -chr2 70120909 rs3214822 GA G 722.12 PASS FUNCOTATION=[SNRNP27|hg19|chr2|70120910|70120910|FIVE_PRIME_UTR||DEL|A|A|-|g.chr2:70120910delA|ENST00000244227.3|+|1|||||0.43640897755610975|GGGAAAAATGAAAGCTGTGTT|SNRNP27_ENST00000409116.1_FIVE_PRIME_FLANK/SNRNP27_ENST00000488986.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X76302|NM_006857.2|NP_006848.1|HGNC:30240|small_%20_nuclear_%20_ribonucleoprotein_%20_U4/U6.U5_%20_subunit_%20_27|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"small_%20_nuclear_%20_ribonucleoprotein_%20_27kDa_%20_(U4/U6.U5)"_%2C__%20_"small_%20_nuclear_%20_ribonucleoprotein_%2C__%20_U4/U6.U5_%20_27kDa_%20_subunit"|RY1_%2C__%20_U4/U6.U5-27K|"nucleic_%20_acid_%20_binding_%20_protein_%20_RY_%20_1"_%2C__%20_"U4/U6.U5_%20_small_%20_nuclear_%20_ribonucleoprotein_%20_27_%20_kDa_%20_protein"|2p13.3|2016-10-05||2016-03-11|X76302||11017|ENSG00000124380|7931148_%2C__%20_9085842|NM_006857|||CCDS33219|OTTHUMG00000152689|11017||NM_006857|Q8WVK2|ENSG00000124380|uc002sfw.4|SNR27_HUMAN||Q15410|Q8WVK2|mRNA_%20_processing_%20_(GO:0006397)_%7C_RNA_%20_splicing_%20_(GO:0008380)|nucleus_%20_(GO:0005634)|nucleic_%20_acid_%20_binding_%20_(GO:0003676)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.6222_%2C_0.3778_%7C_0.6222_%2C_0.3778|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|SNRNP27:11017_%7C_SNRNP27:11017|true_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_true|false_%7C_false|3214822_%7C_397747233|70120910_%7C_70120912|false_%7C_false|false_%7C_false|0_%7C_0|true_%7C_true|0_%7C_0|false_%7C_false|0.661217_%2C_0.338783_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05010002000517013e000200_%7C_0x050100020005000002000200|1_%7C_1|false_%7C_false|134_%7C_138|rs3214822_%7C_rs397747233|_%7C_] -chr2 71163086 rs11681642 T C 1573.93 PASS FUNCOTATION=[ATP6V1B1|hg19|chr2|71163086|71163086|START_CODON_SNP||SNP|T|T|C|g.chr2:71163086T>C|ENST00000234396.4|+|1|75|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6508728179551122|GACTGCTCCATGGCCATGGAG|ATP6V1B1_ENST00000412314.1_START_CODON_SNP_p.M1T|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M25809|NM_001692.3|NP_001683.2|HGNC:853|ATPase_%20_H+_%20_transporting_%20_V1_%20_subunit_%20_B1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|VPP3_%2C__%20_ATP6B1|"vacuolar_%20_proton_%20_pump_%20_3"_%2C__%20_"ATPase_%2C__%20_H+_%20_transporting_%2C__%20_lysosomal_%20_56/58kDa_%2C__%20_V1_%20_subunit_%20_B1"|VATB_%2C__%20_RTA1B_%2C__%20_Vma2|"Renal_%20_tubular_%20_acidosis_%20_with_%20_deafness"|2p13.3|2016-10-05|2002-05-10|2016-02-11|AF107466|3.6.3.14|525|ENSG00000116039|9916796_%2C__%20_2527371|NM_001692|415|V-type_%20_ATPases|CCDS1912|OTTHUMG00000129711|525|192132|NM_001692|P15313|ENSG00000116039|uc002shj.4|VATB1_HUMAN||Q53FY0_%7C_Q6P4H6|P15313|ATP_%20_hydrolysis_%20_coupled_%20_proton_%20_transport_%20_(GO:0015991)_%7C_ATP_%20_metabolic_%20_process_%20_(GO:0046034)_%7C_calcium_%20_ion_%20_homeostasis_%20_(GO:0055074)_%7C_cellular_%20_iron_%20_ion_%20_homeostasis_%20_(GO:0006879)_%7C_excretion_%20_(GO:0007588)_%7C_inner_%20_ear_%20_morphogenesis_%20_(GO:0042472)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_interaction_%20_with_%20_host_%20_(GO:0051701)_%7C_ossification_%20_(GO:0001503)_%7C_pH_%20_reduction_%20_(GO:0045851)_%7C_phagosome_%20_maturation_%20_(GO:0090382)_%7C_proton_%20_transport_%20_(GO:0015992)_%7C_regulation_%20_of_%20_pH_%20_(GO:0006885)_%7C_sensory_%20_perception_%20_of_%20_sound_%20_(GO:0007605)_%7C_transferrin_%20_transport_%20_(GO:0033572)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_basolateral_%20_plasma_%20_membrane_%20_(GO:0016323)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_lateral_%20_plasma_%20_membrane_%20_(GO:0016328)_%7C_microvillus_%20_(GO:0005902)_%7C_proton-transporting_%20_V-type_%20_ATPase_%2C__%20_V1_%20_domain_%20_(GO:0033180)_%7C_vacuolar_%20_proton-transporting_%20_V-type_%20_ATPase_%20_complex_%20_(GO:0016471)|ATP_%20_binding_%20_(GO:0005524)_%7C_hydrogen_%20_ion_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015078)_%7C_hydrolase_%20_activity_%2C__%20_acting_%20_on_%20_acid_%20_anhydrides_%2C__%20_catalyzing_%20_transmembrane_%20_movement_%20_of_%20_substances_%20_(GO:0016820)||||true|false|0.6312_%2C_0.3688|false|false|1||false|true|true|ATP6V1B1:525|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|false|true|11681642|71163086|false|false|0|true|0|false||false|false|false|SNV|true|0x050128000a05170537000100|1|false|120|rs11681642|] -chr2 85549868 rs4240199 A G 1564.94 PASS FUNCOTATION=[TGOLN2|hg19|chr2|85549868|85549868|MISSENSE||SNP|A|A|G|g.chr2:85549868A>G|ENST00000409232.3|-|4|1384|c.1322T>C|c.(1321-1323)cTa>cCa|p.L441P|0.38902743142144636|GTTAGGACTTAGGGGAAAAAA|TGOLN2_ENST00000377386.3_INTRON/TGOLN2_ENST00000398263.2_INTRON/TGOLN2_ENST00000409015.1_NONSTOP_p.*455Q/TGOLN2_ENST00000282120.2_INTRON|||||||||||||||||||||||||22|breast(11)_%7C_large_intestine(11)|||||||AC093162|||HGNC:15450|trans-golgi_%20_network_%20_protein_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||TGN51_%2C__%20_TGN46_%2C__%20_TGN48_%2C__%20_TGN38_%2C__%20_TTGN2|"trans-Golgi_%20_network_%20_protein_%20_(46_%2C__%20_48_%2C__%20_51kD_%20_isoforms)"|2p11.2|2014-11-19|||AF027515||10618|ENSG00000152291|9422759_%2C__%20_21994457|NM_006464|||CCDS46351_%2C__%20_CCDS56126_%2C__%20_CCDS56127|OTTHUMG00000153017|10618|603062|NM_001206840|O43493|ENSG00000152291|uc002soz.4|TGON2_HUMAN||B2R686_%7C_B8ZZ88_%7C_D6W5K3_%7C_F8WBK2_%7C_O15282_%7C_O43492_%7C_O43499_%7C_O43500_%7C_O43501_%7C_Q53G68_%7C_Q53GV2_%7C_Q6MZV1_%7C_Q6ZTM7_%7C_Q8N6T8_%7C_Q92760_%7C_Q96QL2|O43493||Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_trans-Golgi_%20_network_%20_(GO:0005802)_%7C_transport_%20_vesicle_%20_(GO:0030133)|||||true|false|0.221_%2C_0.779|false|false|1||false|true|false|TGOLN2:10618|true|true|true|true|true|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|4240199|85549868|false|false|0|true|0|false|0.29877_%2C_0.70123|false|false|false|SNV|true|0x050100080e0515053e000100|1|false|111|rs4240199|] -chr2 87069431 rs4514875 C T 1607.93 PASS FUNCOTATION=[CD8B|hg19|chr2|87069431|87069431|SILENT||SNP|C|C|T|g.chr2:87069431C>T|ENST00000390655.6|-|6|691|c.632G>A|c.(631-633)tGa>tAa|p.*211*|0.4239401496259352|ATTCTCTGCTCATTTGTAAAA|CD8B_ENST00000393759.2_INTRON/CD8B_ENST00000349455.3_INTRON/CD8B_ENST00000331469.2_INTRON/CD8B_ENST00000393761.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Y00805|NM_004931.4|NP_004922.1|HGNC:1707|CD8b_%20_molecule|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CD8B1|"CD8_%20_antigen_%2C__%20_beta_%20_polypeptide_%20_1_%20_(p37)"|||2p11.2|2016-10-05|2006-03-09|2006-03-28|||926|ENSG00000172116|1541829|NM_172099|471_%7C_590|CD_%20_molecules_%7C_V-set_%20_domain_%20_containing|CCDS1994_%2C__%20_CCDS1995_%2C__%20_CCDS42708_%2C__%20_CCDS1997_%2C__%20_CCDS54376|OTTHUMG00000130264|926|186730|NM_001178100|P10966|ENSG00000172116|uc002srw.4|CD8B_HUMAN||P14860_%7C_P14861_%7C_Q15980_%7C_Q496E0_%7C_Q496E1_%7C_Q496E2_%7C_Q9UDB4_%7C_Q9UDB5_%7C_Q9UDB6_%7C_Q9UDB7_%7C_Q9UDB8_%7C_Q9UDB9_%7C_Q9UDC0_%7C_Q9UQ55|P10966|immune_%20_response_%20_(GO:0006955)_%7C_regulation_%20_of_%20_defense_%20_response_%20_to_%20_virus_%20_by_%20_virus_%20_(GO:0050690)_%7C_regulation_%20_of_%20_immune_%20_response_%20_(GO:0050776)_%7C_T_%20_cell_%20_activation_%20_(GO:0042110)_%7C_transmembrane_%20_receptor_%20_protein_%20_tyrosine_%20_kinase_%20_signaling_%20_pathway_%20_(GO:0007169)_%7C_viral_%20_process_%20_(GO:0016032)|early_%20_endosome_%20_membrane_%20_(GO:0031901)_%7C_external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_T_%20_cell_%20_receptor_%20_complex_%20_(GO:0042101)|coreceptor_%20_activity_%20_(GO:0015026)_%7C_MHC_%20_class_%20_I_%20_protein_%20_binding_%20_(GO:0042288)||||true|false|0.3055_%2C_0.6945|false|false|1||false|true|true|CD8B:926|false|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|4514875|87069431|false|false|0|true|0|true||false|false|false|SNV|true|0x050100080305170036000100|1|false|111|rs4514875|] -chr2 89292401 rs143871003 T C 140.25 PASS FUNCOTATION=[IGKV1-8|hg19|chr2|89292401|89292401|DE_NOVO_START_IN_FRAME||SNP|T|T|C|g.chr2:89292401T>C|ENST00000495489.1|-|1|||||0.5261845386533666|CCCTCATGTCTATGCTGTGTC|||||||||||||||||||||||||||||||||||||HGNC:5743|immunoglobulin_%20_kappa_%20_variable_%20_1-8|Approved|immunoglobulin_%20_gene|other|||IGKV18_%2C__%20_L9||2p11.2|2012-02-10|||Z00014||28942|ENSG00000240671||NG_000834|351|Immunoglobulin_%20_kappa_%20_locus_%20_at_%20_2p11.2||OTTHUMG00000151634|28942||NG_000834|A0A0C4DH67|ENSG00000240671|uc284ppp.1|||||||||||true|false|0.7296_%2C_0.2704|false|false|1||false|true|true|LOC101928457:101928457|false|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|143871003|89292401|false|false|0|true|0|false|0.786293_%2C_0.213707|false|false|false|SNV|true|0x050100080005170036000100|1|false|134|rs143871003|] -chr2 99226173 rs1062847 T A 426.25 PASS FUNCOTATION=[UNC50|hg19|chr2|99226173|99226173|INTRON||SNP|T|T|A|g.chr2:99226173T>A|ENST00000357765.2|+|||c.e2-46T>A|||0.4763092269326683|GGTAGCCAAATGTTTCTTCAG|UNC50_ENST00000409975.1_START_CODON_SNP_p.M1K/UNC50_ENST00000409347.1_START_CODON_SNP_p.M1K/COA5_ENST00000328709.3_FIVE_PRIME_FLANK/COA5_ENST00000409997.1_FIVE_PRIME_FLANK/COA5_ENST00000483527.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533464|NM_014044.5|NP_054763.2|HGNC:16046|unc-50_%20_inner_%20_nuclear_%20_membrane_%20_RNA_%20_binding_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"unc-50_%20_homolog_%20_(C._%20_elegans)"|URP_%2C__%20_UNCL_%2C__%20_GMH1||2q11.2|2016-10-05||2016-04-29|||25972|ENSG00000115446|10980252|NM_014044|||CCDS2035_%2C__%20_CCDS82485|OTTHUMG00000130562|25972||NM_014044|Q53HI1|ENSG00000115446|uc002szc.5|UNC50_HUMAN||D3DVH4_%7C_Q53S98_%7C_Q53TD6_%7C_Q5U5U2_%7C_Q6X7B9_%7C_Q9UQF4_%7C_Q9Y4S6|Q53HI1|cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007166)_%7C_protein_%20_transport_%20_(GO:0015031)|Golgi_%20_membrane_%20_(GO:0000139)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nuclear_%20_inner_%20_membrane_%20_(GO:0005637)|RNA_%20_binding_%20_(GO:0003723)||||true|false|0.7143_%2C_0.2857|false|false|1||false|true|true|UNC50:25972_%7C_COA5:493753|true|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|1062847|99226173|false|false|0|true|0|false|0.747184_%2C_0.252816|false|false|false|SNV|true|0x0501000a0a0517053f000100|1|false|86|rs1062847|] -chr2 191184475 rs291466 A G 741.25 PASS FUNCOTATION=[HIBCH|hg19|chr2|191184475|191184475|START_CODON_SNP||SNP|A|A|G|g.chr2:191184475A>G|ENST00000359678.5|-|1|297|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6633416458852868|GCGCTGCCCCATCGCCAAACA|HIBCH_ENST00000392332.3_START_CODON_SNP_p.M1T|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U66669|NM_198047.2|NP_932164.1|HGNC:4908|3-hydroxyisobutyryl-CoA_%20_hydrolase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"3-hydroxyisobutyryl-Coenzyme_%20_A_%20_hydrolase"|||2q32.2|2016-10-05||2010-04-29|U66669|3.1.2.4|26275|ENSG00000198130|8824301||||CCDS2304_%2C__%20_CCDS46475|OTTHUMG00000132673|26275|610690|NM_014362|Q6NVY1|ENSG00000198130|uc002uru.3|HIBCH_HUMAN||D3DPI4_%7C_Q53GA8_%7C_Q53GF2_%7C_Q53RF7_%7C_Q53TC6_%7C_Q92931_%7C_Q9BS94|Q6NVY1|branched-chain_%20_amino_%20_acid_%20_catabolic_%20_process_%20_(GO:0009083)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_valine_%20_catabolic_%20_process_%20_(GO:0006574)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)|3-hydroxyisobutyryl-CoA_%20_hydrolase_%20_activity_%20_(GO:0003860)||||true|false|0.5683_%2C_0.4317|false|false|1||false|true|true|HIBCH:26275|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|291466|191184475|false|false|0|true|0|false|0.490041_%2C_0.509959|false|false|false|SNV|true|0x050100000a0517053f000101|1|false|79|rs291466|] -chr2 215595645 rs16852600 C T 591.25 PASS FUNCOTATION=[BARD1|hg19|chr2|215595645|215595645|INTRON||SNP|C|C|T|g.chr2:215595645C>T|ENST00000260947.4|-|||c.e10+413G>A|||0.3740648379052369|CTATACTGCTCATTTTGACAG|BARD1_ENST00000432456.1_START_CODON_SNP_p.M1I/BARD1_ENST00000449967.2_INTRON|||||||||||||||||||||||||446|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(112)_%7C_large_intestine(21)_%7C_lung(190)_%7C_pancreas(22)_%7C_skin(44)||||Neuroblastoma_%2C__%20_Familial_%20_Clustering_%20_of_%3B_Congenital_%20_Central_%20_Hypoventilation_%20_Syndrome|Familial_%20_Neuroblastoma_%3B_CCHS_%2C__%20_Ondine_%20_Curse_%2C__%20_incl._%20_Ondine-Hirschsprung_%20_Disease|Familial_%20_Cancer_%20_Database|U76638|NM_001282548.1|NP_001269477.1|HGNC:952|BRCA1_%20_associated_%20_RING_%20_domain_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||2q35|2015-01-28|||||580|ENSG00000138376|8944023_%2C__%20_9425226_%2C__%20_15159397|NM_000465|403_%7C_1335|Ankyrin_%20_repeat_%20_domain_%20_containing_%7C_BRCA1_%20_B_%20_complex|CCDS2397_%2C__%20_CCDS74645_%2C__%20_CCDS74646_%2C__%20_CCDS74647_%2C__%20_CCDS74648|OTTHUMG00000133016|580|601593|NM_000465|Q99728|ENSG00000138376|uc021vwi.2|BARD1_HUMAN||F6MDH7_%7C_F6MDH8_%7C_F6MDH9_%7C_O43574_%7C_Q53SS5|Q99728|cell_%20_cycle_%20_arrest_%20_(GO:0007050)_%7C_cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_DNA_%20_repair_%20_(GO:0006281)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_mRNA_%20_3'-end_%20_processing_%20_(GO:0031441)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_export_%20_from_%20_nucleus_%20_(GO:0046826)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_catabolic_%20_process_%20_(GO:0045732)_%7C_protein_%20_K6-linked_%20_ubiquitination_%20_(GO:0085020)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)_%7C_regulation_%20_of_%20_phosphorylation_%20_(GO:0042325)_%7C_tissue_%20_homeostasis_%20_(GO:0001894)|BRCA1-A_%20_complex_%20_(GO:0070531)_%7C_BRCA1-BARD1_%20_complex_%20_(GO:0031436)_%7C_cytoplasm_%20_(GO:0005737)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)_%7C_ubiquitin_%20_ligase_%20_complex_%20_(GO:0000151)|kinase_%20_binding_%20_(GO:0019900)_%7C_ligase_%20_activity_%20_(GO:0016874)_%7C_protein_%20_heterodimerization_%20_activity_%20_(GO:0046982)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_RNA_%20_binding_%20_(GO:0003723)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.7246_%2C_0.2754|false|false|1||false|true|false|BARD1:580|true|true|true|true|true|false|true|false|false|false|false|false|false|false|false|true|true|false|false|false|16852600|215595645|false|false|0|true|0|false|0.769661_%2C_0.230339|false|false|false|SNV|true|0x05012808000515053f020100|1|false|123|rs16852600|] -chr2 219903258 rs6736922 T G 1474.91 PASS FUNCOTATION=[CCDC108|hg19|chr2|219903258|219903258|MISSENSE||SNP|T|T|G|g.chr2:219903258T>G|ENST00000341552.5|-|4|280|c.196A>C|c.(196-198)Atg>Ctg|p.M66L|0.5885286783042394|GTGAGCATCATGTCCTTGGGA|CCDC108_ENST00000295729.2_START_CODON_SNP_p.M1L/CCDC108_ENST00000409865.3_MISSENSE_p.M55L/CCDC108_ENST00000410037.1_START_CODON_SNP_p.M1L/CCDC108_ENST00000441968.1_MISSENSE_p.M66L/CCDC108_ENST00000453220.1_MISSENSE_p.M66L/CCDC108_ENST00000324264.6_START_CODON_SNP_p.M1L|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC130281|NM_194302.3|NP_919278.2||||||||||||||||||||||||||||||CC108_HUMAN||A2BDD8_%7C_E9PCR1_%7C_E9PG25_%7C_E9PG72_%7C_Q6ZSR8_%7C_Q8N0T4_%7C_Q8NDJ3|Q6ZU64||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_structural_%20_molecule_%20_activity_%20_(GO:0005198)||||true|false|0.4105_%2C_0.5895|false|false|1||false|true|true|CFAP65:255101_%7C_CCDC108:255101|true|true|false|true|true|false|true|false|false|false|false|true|false|false|false|true|false|false|false|true|6736922|219903258|false|false|0|true|0|false|0.359812_%2C_0.640188|false|false|false|SNV|true|0x050120000a0517053f020100|1|false|116|rs6736922|] -chr2 231222675 rs4973318 T C 421.25 PASS FUNCOTATION=[SP140L|hg19|chr2|231222675|231222675|MISSENSE||SNP|T|T|C|g.chr2:231222675T>C|ENST00000415673.2|+|3|349|c.263T>C|c.(262-264)aTg>aCg|p.M88T|0.41895261845386533|ACAAATAAAATGTTTGAAGTA|SP140L_ENST00000444636.1_MISSENSE_p.M88T/SP140L_ENST00000458341.1_START_CODON_SNP_p.M1T/SP140_ENST00000486687.2_THREE_PRIME_UTR/SP140L_ENST00000243810.6_MISSENSE_p.M88T/SP140L_ENST00000396563.4_MISSENSE_p.M88T|||||||||||||||||||||||||23|central_nervous_system(23)|||||||BQ690359|NM_138402.4|NP_612411.4|HGNC:25105|SP140_%20_nuclear_%20_body_%20_protein_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"SP140_%20_nuclear_%20_body_%20_protein-like"|||2q37.1|2015-11-19||2015-11-19|BC004921||93349|ENSG00000185404|12477932|NM_138402|88_%7C_1232|PHD_%20_finger_%20_proteins_%7C_Bromodomain_%20_containing|CCDS46538_%2C__%20_CCDS77536_%2C__%20_CCDS77537|OTTHUMG00000153730|93349|617747|NM_001308162|Q9H930|ENSG00000185404|uc010fxm.2|SP14L_HUMAN||Q2M375_%7C_Q4ZG65_%7C_Q9BSP3|Q9H930||nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.9173_%2C_0.08267|false|false|1||false|true|false|SP140L:93349|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|4973318|231222675|false|false|0|true|0|false|0.929288_%2C_0.0707123|false|false|false|SNV|true|0x050100000a05150537000100|1|false|111|rs4973318|] -chr2 240084053 rs3791516 T A 540.25 PASS FUNCOTATION=[HDAC4|hg19|chr2|240084053|240084053|INTRON||SNP|T|T|A|g.chr2:240084053T>A|ENST00000345617.3|-|||c.e6-1446A>T|||0.6533665835411472|TGGCTCCTCATCCTGCCCTTT|AC017028.1_ENST00000396489.1_START_CODON_SNP_p.M1L/HDAC4_ENST00000541256.1_INTRON|||||||||||||||||||||||||277|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(112)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(11)|||||||AF132607|NM_006037.3|NP_006028.2|HGNC:14063|histone_%20_deacetylase_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|BDMR|"brachydactyly-mental_%20_retardation_%20_syndrome"|KIAA0288_%2C__%20_HDAC-A_%2C__%20_HDACA_%2C__%20_HD4_%2C__%20_HA6116_%2C__%20_HDAC-4||2q37.3|2015-09-11|||AB006626||9759|ENSG00000068024|10206986_%2C__%20_10220385_%2C__%20_20691407|NM_006037|992|Histone_%20_deacetylases_%2C__%20_class_%20_IIA|CCDS2529|OTTHUMG00000133344|9759|605314|NM_006037|P56524|ENSG00000068024|uc002vyk.4|HDAC4_HUMAN||Q9UND6|P56524|B_%20_cell_%20_activation_%20_(GO:0042113)_%7C_B_%20_cell_%20_differentiation_%20_(GO:0030183)_%7C_cardiac_%20_muscle_%20_hypertrophy_%20_in_%20_response_%20_to_%20_stress_%20_(GO:0014898)_%7C_chromatin_%20_remodeling_%20_(GO:0006338)_%7C_histone_%20_deacetylation_%20_(GO:0016575)_%7C_histone_%20_H3_%20_deacetylation_%20_(GO:0070932)_%7C_histone_%20_H4_%20_deacetylation_%20_(GO:0070933)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_glycolytic_%20_process_%20_(GO:0045820)_%7C_negative_%20_regulation_%20_of_%20_myotube_%20_differentiation_%20_(GO:0010832)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0043433)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_osteoblast_%20_development_%20_(GO:0002076)_%7C_peptidyl-lysine_%20_deacetylation_%20_(GO:0034983)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_sumoylation_%20_(GO:0033235)_%7C_positive_%20_regulation_%20_of_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0051091)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_regulation_%20_of_%20_cardiac_%20_muscle_%20_contraction_%20_by_%20_calcium_%20_ion_%20_signaling_%20_(GO:0010882)_%7C_regulation_%20_of_%20_gene_%20_expression_%2C__%20_epigenetic_%20_(GO:0040029)_%7C_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0043393)_%7C_regulation_%20_of_%20_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048742)_%7C_response_%20_to_%20_denervation_%20_involved_%20_in_%20_regulation_%20_of_%20_muscle_%20_adaptation_%20_(GO:0014894)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_response_%20_to_%20_interleukin-1_%20_(GO:0070555)_%7C_skeletal_%20_system_%20_development_%20_(GO:0001501)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|A_%20_band_%20_(GO:0031672)_%7C_actomyosin_%20_(GO:0042641)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_histone_%20_deacetylase_%20_complex_%20_(GO:0000118)_%7C_neuromuscular_%20_junction_%20_(GO:0031594)_%7C_nucleus_%20_(GO:0005634)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)_%7C_Z_%20_disc_%20_(GO:0030018)|activating_%20_transcription_%20_factor_%20_binding_%20_(GO:0033613)_%7C_core_%20_promoter_%20_binding_%20_(GO:0001047)_%7C_histone_%20_deacetylase_%20_activity_%20_(GO:0004407)_%7C_histone_%20_deacetylase_%20_binding_%20_(GO:0042826)_%7C_NAD-dependent_%20_histone_%20_deacetylase_%20_activity_%20_(H3-K14_%20_specific)_%20_(GO:0032041)_%7C_NAD-dependent_%20_histone_%20_deacetylase_%20_activity_%20_(H3-K18_%20_specific)_%20_(GO:0097372)_%7C_NAD-dependent_%20_histone_%20_deacetylase_%20_activity_%20_(H3-K9_%20_specific)_%20_(GO:0046969)_%7C_NAD-dependent_%20_histone_%20_deacetylase_%20_activity_%20_(H4-K16_%20_specific)_%20_(GO:0046970)_%7C_potassium_%20_ion_%20_binding_%20_(GO:0030955)_%7C_protein_%20_deacetylase_%20_activity_%20_(GO:0033558)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.9123_%2C_0.08766|false|false|1||false|true|false|HDAC4:9759|false|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3791516|240084053|false|false|0|true|0|false|0.927914_%2C_0.072086|false|false|false|SNV|true|0x050100080005150036000100|1|false|107|rs3791516|] -chr7 103629803 . T TGCCGCC 3401.98 PASS FUNCOTATION=[RELN|hg19|chr7|103629803|103629804|IN_FRAME_INS||INS|-|-|GCCGCC|g.chr7:103629803_103629804insGCCGCC|ENST00000428762.1|-|1|161|c.0_1insGGCGGC|c.(1-3)atg>GGCGGCatg|p.0_1insGG|0.6975|TGCGCTCCATGCCGCCGCCG|RELN_ENST00000343529.5_IN_FRAME_INS_p.0_1insGG/RELN_ENST00000424685.2_IN_FRAME_INS_p.0_1insGG|NSCLC(146_%3B_835_%20_1944_%20_15585_%20_22231_%20_52158)||||||||||||||||||||||||805|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(330)_%7C_large_intestine(207)_%7C_pancreas(22)_%7C_stomach(47)_%7C_upper_aerodigestive_tract(121)|||||||U79716|NM_005045.3|NP_005036.2|HGNC:9957|reelin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||RL_%2C__%20_PRO1598||7q22.1|2016-10-05|||||5649|ENSG00000189056|9049633|NM_005045|||CCDS34722_%2C__%20_CCDS47680|OTTHUMG00000157247|5649|600514|NM_005045|P78509|ENSG00000189056|uc010liz.3|RELN_HUMAN||A4D0P9_%7C_A4D0Q0_%7C_Q86UJ0_%7C_Q86UJ8_%7C_Q8NDV0_%7C_Q9UDQ2|P78509|associative_%20_learning_%20_(GO:0008306)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_cell_%20_adhesion_%20_(GO:0007155)_%7C_cell_%20_morphogenesis_%20_involved_%20_in_%20_differentiation_%20_(GO:0000904)_%7C_central_%20_nervous_%20_system_%20_development_%20_(GO:0007417)_%7C_cerebral_%20_cortex_%20_tangential_%20_migration_%20_(GO:0021800)_%7C_dendrite_%20_development_%20_(GO:0016358)_%7C_glial_%20_cell_%20_differentiation_%20_(GO:0010001)_%7C_hippocampus_%20_development_%20_(GO:0021766)_%7C_lateral_%20_motor_%20_column_%20_neuron_%20_migration_%20_(GO:0097477)_%7C_layer_%20_formation_%20_in_%20_cerebral_%20_cortex_%20_(GO:0021819)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_N-methyl-D-aspartate_%20_receptor_%20_clustering_%20_(GO:0097114)_%7C_neuron_%20_migration_%20_(GO:0001764)_%7C_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0018108)_%7C_positive_%20_regulation_%20_of_%20_alpha-amino-3-hydroxy-5-methyl-4-isoxazole_%20_propionate_%20_selective_%20_glutamate_%20_receptor_%20_activity_%20_(GO:2000969)_%7C_positive_%20_regulation_%20_of_%20_CREB_%20_transcription_%20_factor_%20_activity_%20_(GO:0032793)_%7C_positive_%20_regulation_%20_of_%20_dendritic_%20_spine_%20_morphogenesis_%20_(GO:0061003)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_lateral_%20_motor_%20_column_%20_neuron_%20_migration_%20_(GO:1902078)_%7C_positive_%20_regulation_%20_of_%20_long-term_%20_synaptic_%20_potentiation_%20_(GO:1900273)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_projection_%20_development_%20_(GO:0010976)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050731)_%7C_positive_%20_regulation_%20_of_%20_phosphatidylinositol_%20_3-kinase_%20_signaling_%20_(GO:0014068)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0045860)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_tyrosine_%20_kinase_%20_activity_%20_(GO:0061098)_%7C_positive_%20_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051057)_%7C_positive_%20_regulation_%20_of_%20_synapse_%20_maturation_%20_(GO:0090129)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_transmission_%2C__%20_glutamatergic_%20_(GO:0051968)_%7C_positive_%20_regulation_%20_of_%20_TOR_%20_signaling_%20_(GO:0032008)_%7C_postsynaptic_%20_density_%20_protein_%20_95_%20_clustering_%20_(GO:0097119)_%7C_receptor_%20_localization_%20_to_%20_synapse_%20_(GO:0097120)_%7C_reelin-mediated_%20_signaling_%20_pathway_%20_(GO:0038026)_%7C_regulation_%20_of_%20_behavior_%20_(GO:0050795)_%7C_regulation_%20_of_%20_N-methyl-D-aspartate_%20_selective_%20_glutamate_%20_receptor_%20_activity_%20_(GO:2000310)_%7C_regulation_%20_of_%20_synaptic_%20_transmission_%20_(GO:0050804)_%7C_response_%20_to_%20_pain_%20_(GO:0048265)_%7C_spinal_%20_cord_%20_patterning_%20_(GO:0021511)_%7C_ventral_%20_spinal_%20_cord_%20_development_%20_(GO:0021517)|cytoplasm_%20_(GO:0005737)_%7C_dendrite_%20_(GO:0030425)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_proteinaceous_%20_extracellular_%20_matrix_%20_(GO:0005578)|lipoprotein_%20_particle_%20_receptor_%20_binding_%20_(GO:0070325)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_protein_%20_serine/threonine/tyrosine_%20_kinase_%20_activity_%20_(GO:0004712)_%7C_serine-type_%20_peptidase_%20_activity_%20_(GO:0008236)_%7C_very-low-density_%20_lipoprotein_%20_particle_%20_receptor_%20_binding_%20_(GO:0070326)||||true|false|0.3958_%2C_._%2C_0.6042_%2C_._%2C_._%2C_._%2C_._%2C_._%2C_.|false|false|1||false|false|false|RELN:5649|false|false|false|false|true|true|false|false|false|true|false|false|false|false|false|true|true|false|false|false|587780434|103629803|true|false|1|false|0|false||false|false|true|DIV|true|0x050068400005140026100204|1|false|136|rs587780434|] -chr7 133812122 . T TAC 88.73 PASS FUNCOTATION=[LRGUK|hg19|chr7|133812122|133812123|START_CODON_INS||INS|-|-|AC|g.chr7:133812122_133812123insAC|ENST00000285928.2|+|1|71|c.2_3insAC|||0.56|TAAACAAGATGGCGACCTCC|LRGUK_ENST00000473068.1_INTRON|||||||||||||||||||||||||271|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471070|NM_144648.1|NP_653249.1|HGNC:21964|leucine_%20_rich_%20_repeats_%20_and_%20_guanylate_%20_kinase_%20_domain_%20_containing|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32786_%2C__%20_CFAP246||7q33|2016-06-06||2016-06-06|AK057348||136332|ENSG00000155530|25781171|NM_144648|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS5830|OTTHUMG00000155320|136332|616478|NM_144648|Q96M69|ENSG00000155530|uc003vrm.2|LRGUK_HUMAN||Q2M3I1|Q96M69||cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] -chr7 144059763 . A ATGGAGGCTGAGGAGGCCCAGCG 1490.18 PASS FUNCOTATION=[ARHGEF5|hg19|chr7|144059763|144059764|START_CODON_INS||INS|-|-|TGGAGGCTGAGGAGGCCCAGCG|g.chr7:144059763_144059764insTGGAGGCTGAGGAGGCCCAGCG|ENST00000056217.5|+|2|175|c.1_2insTGGAGGCTGAGGAGGCCCAGCG|||0.445|TCAGCCCTGATGGAGGCTGA|ARHGEF5_ENST00000471847.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U02082|NM_005435.3|NP_005426.2|HGNC:13209|Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factor_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factor_%20_(GEF)_%20_5"|TIM_%2C__%20_TIM1_%2C__%20_GEF5_%2C__%20_P60|"transforming_%20_immortalized_%20_mammary_%20_oncogene"_%2C__%20_"guanine_%20_nucleotide_%20_regulatory_%20_protein_%20_TIM"|7q35|2015-11-09||2015-11-09|U02082||7984|ENSG00000050327|8134109_%2C__%20_7656213|NM_005435|722|Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factors|CCDS34771|OTTHUMG00000158004|7984|600888|NM_005435|Q12774|ENSG00000050327|uc003wel.4|ARHG5_HUMAN||A6NNJ2_%7C_Q6ZML7|Q12774|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_myeloid_%20_dendritic_%20_cell_%20_chemotaxis_%20_(GO:0002408)_%7C_positive_%20_regulation_%20_of_%20_podosome_%20_assembly_%20_(GO:0071803)_%7C_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032319)||GTP_%20_binding_%20_(GO:0005525)_%7C_Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)||||true|false||false|false|||false|false|false|ARHGEF5:7984|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|766185415|144059763|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040002000200|1|false|144|rs766185415|] +1 10146 rs375931351 AC A 168.97 PASS FUNCOTATION=[DDX11L1|hg19|chr1|10147|10147|FIVE_PRIME_FLANK||DEL|C|C|-|g.chr1:10147delC|ENST00000456328.2|+||||||0.4463840399002494|CTAACCCTAACCCCTAACCCT|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 10390 . CCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA C 23.94 PASS FUNCOTATION=[DDX11L1|hg19|chr1|10391|10433|FIVE_PRIME_FLANK||DEL|CCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA|CCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA|-|g.chr1:10391_10433delCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA|ENST00000456328.2|+||||||0.5801354401805869|TAACCCTAACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCC|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 10397 . C CCCCTAACCCTAA 113.60 PASS FUNCOTATION=[DDX11L1|hg19|chr1|10397|10398|FIVE_PRIME_FLANK||INS|-|-|CCCTAACCCTAA|g.chr1:10397_10398insCCCTAACCCTAA|ENST00000456328.2|+||||||0.575|AACCCCTAACCCCTAACCCT|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 10492 . C T 13.30 PASS FUNCOTATION=[DDX11L1|hg19|chr1|10492|10492|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:10492C>T|ENST00000456328.2|+||||||0.6408977556109726|GCCGGCCCGCCCGCCCGGGTC|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 10719 . G C 14.26 PASS FUNCOTATION=[DDX11L1|hg19|chr1|10719|10719|FIVE_PRIME_FLANK||SNP|G|G|C|g.chr1:10719G>C|ENST00000456328.2|+||||||0.7630922693266833|GCAGAGAGGCGCGCCGCGCCG|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 12719 . G C 38.95 PASS FUNCOTATION=[DDX11L1|hg19|chr1|12719|12719|SPLICE_SITE|INTRON|SNP|G|G|C|g.chr1:12719G>C|ENST00000456328.2|+|||c.e2-2G>C|c.e2+2||0.6159600997506235|CAGTGTTGCAGAGGTGAGAGG|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 12807 . C T 37.53 PASS FUNCOTATION=[DDX11L1|hg19|chr1|12807|12807|RNA||SNP|C|C|T|g.chr1:12807C>T|ENST00000456328.2|+|||c.e2+86C>T|||0.6059850374064838|GGAGAGGCTTCGATGCCCCTC|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|62635285|12807|false|false|0|false|0|false||false|false|false|SNV|false|0x050000080005000002000100|1|false|129|rs62635285|] +1 13079 . C G 384.64 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13079|13079|RNA||SNP|C|C|G|g.chr1:13079C>G|ENST00000456328.2|+|||c.e3-142C>G|||0.5860349127182045|CCAGCTGGGTCGACAGACAGG|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|78890234|13079|false|false|0|false|0|false||false|false|false|SNV|true|0x050000080005040102000100|1|false|131|rs78890234|] +1 13079 . C G 47.49 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13079|13079|RNA||SNP|C|C|G|g.chr1:13079C>G|ENST00000456328.2|+|||c.e3-142C>G|||0.5860349127182045|CCAGCTGGGTCGACAGACAGG|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|78890234|13079|false|false|0|false|0|false||false|false|false|SNV|true|0x050000080005040102000100|1|false|131|rs78890234|] +1 13110 . G A 178.25 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13110|13110|RNA||SNP|G|G|A|g.chr1:13110G>A|ENST00000456328.2|+|||c.e3-111G>A|||0.5910224438902744|GGGGAGAAGAGGAAAGTGAGG|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false|0.9732_%2C_0.02676|false|false|1||false|true|false|DDX11L1:100287102|false|false|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|540538026|13110|false|false|0|false|0|false||false|false|false|SNV|true|0x050000080005150026000100|1|false|142|rs540538026|] +1 13273 . G C 611.73 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13273|13273|RNA||SNP|G|G|C|g.chr1:13273G>C|ENST00000456328.2|+|||c.e3+52G>C|||0.571072319201995|TCCTGGACCAGTGATACACCC|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false|0.905_%2C_0.09505|false|false|1||false|true|false|DDX11L1:100287102|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|531730856|13273|false|false|0|true|0|false||false|false|false|SNV|true|0x050100000005150026000100|1|false|142|rs531730856|] +1 13417 . C CGAGA 391.16 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13417|13418|RNA||INS|-|-|GAGA|g.chr1:13417_13418insGAGA|ENST00000456328.2|+|||c.e3+196C>CGAGA|||0.5775|CCACCACCCCGAGATCACAT|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false||false|false|||false|true|true|DDX11L1:100287102|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|777038595|13417|false|false|0|false|0|false||false|false|false|DIV|true|0x050000000005070002000200|1|false|144|rs777038595|] +1 13418 . G A 151.93 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13418|13418|RNA||SNP|G|G|A|g.chr1:13418G>A|ENST00000456328.2|+|||c.e3+197G>A|||0.5760598503740648|CCACCACCCCGAGATCACATT|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|75175547|13418|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000005000102000100|1|false|131|rs75175547|] +1 13613 . T A 20.73 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13613|13613|RNA||SNP|T|T|A|g.chr1:13613T>A|ENST00000456328.2|+|||c.e3+392T>A|||0.5885286783042394|GTCCAGAGTGTTGCCAGGACC|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|879980801|13613|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000005000002000100|1|false|149|rs879980801|] +1 13684 . C T 26.94 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13684|13684|RNA||SNP|C|C|T|g.chr1:13684C>T|ENST00000456328.2|+|||c.e3+463C>T|||0.5810473815461347|ATGGTGGGTCCTGGCCATCCG|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|71260404|13684|true|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000102000100|1|false|130|rs71260404|] +1 13813 . T G 129.85 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13813|13813|RNA||SNP|T|T|G|g.chr1:13813T>G|ENST00000456328.2|+|||c.e3+592T>G|||0.57356608478803|CCTGCCCACCTTCTTAGAAGC|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 13838 rs200683566 C T 117.84 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13838|13838|RNA||SNP|C|C|T|g.chr1:13838C>T|ENST00000456328.2|+|||c.e3-571C>T|||0.5685785536159601|CGGAGCAGACCCATCTGCTAC|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28428499|13838|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000005000002000100|1|false|125|rs28428499|] +1 13868 . A G 17.86 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13868|13868|RNA||SNP|A|A|G|g.chr1:13868A>G|ENST00000456328.2|+|||c.e3-541A>G|||0.571072319201995|TATAATAACTAAAGTTAGCTG|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102_%7C_WASH7P:653635|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|796086906|13868|false|false|0|false|0|false||false|false|false|SNV|false|0x050000080005000002000100|1|false|146|rs796086906|] +1 13912 . G A 42.60 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13912|13912|RNA||SNP|G|G|A|g.chr1:13912G>A|ENST00000456328.2|+|||c.e3-497G>A|||0.5610972568578554|CTCAATTTAAGAAGATCCCCA|||||||||||||||||||||||||||||||||||||HGNC:37102|DEAD/H-box_%20_helicase_%20_11_%20_like_%20_1|Approved|pseudogene|pseudogene||"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_polypeptide_%20_11_%20_like_%20_1"_%2C__%20_"DEAD/H_%20_(Asp-Glu-Ala-Asp/His)_%20_box_%20_helicase_%20_11_%20_like_%20_1"|||1p36.33|2016-01-07||2016-01-07|AM992871||100287102|ENSG00000223972|19476624|||||OTTHUMG00000000961|100287102||NR_046018||ENSG00000223972||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102_%7C_WASH7P:653635|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2691324|13912|true|false|0|false|1|false||false|false|false|SNV|false|0x050000080005000102000140|1|false|100|rs2691324|] +1 14542 . A G 13.46 PASS FUNCOTATION=[Unknown|hg19|chr1|14542|14542|IGR||SNP|A|A|G|g.chr1:14542A>G|no_transcript|||||||0.5835411471321695|TGTGGCCTCAAGCCAGCCTTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102_%7C_WASH7P:653635|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|1045833|14542|true|false|0|false|0|false||false|false|false|SNV|false|0x050000040005000002000100|1|false|86|rs1045833|] +1 14574 . A G 17.16 PASS FUNCOTATION=[Unknown|hg19|chr1|14574|14574|IGR||SNP|A|A|G|g.chr1:14574A>G|no_transcript|||||||0.5885286783042394|GCTGGTCTCCACACAGTGCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102_%7C_WASH7P:653635|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|28503599|14574|false|false|0|false|0|false||false|false|false|SNV|true|0x050000040005040102000100|1|false|125|rs28503599|] +1 14590 . G A 27.30 PASS FUNCOTATION=[Unknown|hg19|chr1|14590|14590|IGR||SNP|G|G|A|g.chr1:14590G>A|no_transcript|||||||0.6059850374064838|TGCTGGTTCCGTCACCCCCTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102_%7C_WASH7P:653635|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|707679|14590|true|false|0|false|0|false||false|false|false|SNV|true|0x050000040005040102000100|1|false|86|rs707679|] +1 14599 . T A 103.21 PASS FUNCOTATION=[Unknown|hg19|chr1|14599|14599|IGR||SNP|T|T|A|g.chr1:14599T>A|no_transcript|||||||0.6159600997506235|CGTCACCCCCTCCCAAGGAAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8524_%2C_0.1476|false|false|1||false|true|true|DDX11L1:100287102_%7C_WASH7P:653635|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|707680|14599|true|false|0|false|0|false||false|false|false|SNV|false|0x050000040005030026000100|1|false|86|rs707680|] +1 14604 . A G 170.78 PASS FUNCOTATION=[Unknown|hg19|chr1|14604|14604|IGR||SNP|A|A|G|g.chr1:14604A>G|no_transcript|||||||0.6159600997506235|CCCCCTCCCAAGGAAGTAGGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8524_%2C_0.1476|false|false|1||false|true|true|DDX11L1:100287102_%7C_WASH7P:653635|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|541940975|14604|false|false|0|false|0|false||false|false|false|SNV|true|0x050000040005170026000100|1|false|142|rs541940975|] +1 30548 rs376676075 T G 76.31 PASS FUNCOTATION=[Unknown|hg19|chr1|30548|30548|IGR||SNP|T|T|G|g.chr1:30548T>G|no_transcript|||||||0.42144638403990026|TTCCTAACACTCTCTCCCTCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|true|true|WASH7P:653635_%7C_MIR1302-2:100302278|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|false|62028215|30548|true|false|0|true|0|false||false|false|false|SNV|false|0x050100060005030102000100|1|false|129|rs62028215|] +1 69968 . A G 44.09 PASS FUNCOTATION=[OR4F5|hg19|chr1|69968|69968|MISSENSE||SNP|A|A|G|g.chr1:69968A>G|ENST00000335137.3|+|1|878|c.878A>G|c.(877-879)cAg>cGg|p.Q293R|0.35910224438902744|GCAATAAGACAGCTGAGAAAA||||||||||||||||||||||||||46|biliary_tract(2)_%7C_central_nervous_system(22)_%7C_pancreas(22)|||||||AL627309|NM_001005484.1|NP_001005484.1|HGNC:14825|olfactory_%20_receptor_%20_family_%20_4_%20_subfamily_%20_F_%20_member_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"olfactory_%20_receptor_%2C__%20_family_%20_4_%2C__%20_subfamily_%20_F_%2C__%20_member_%20_5"|||1p36.33|2015-12-09||2015-12-09|AB065592||79501|ENSG00000186092||NM_001005484|151|Olfactory_%20_receptors_%2C__%20_family_%20_4|CCDS30547|OTTHUMG00000001094|79501||NM_001005484|Q8NH21|ENSG00000186092|uc001aal.1|OR4F5_HUMAN||Q5VT22|Q8NH21||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_olfactory_%20_receptor_%20_activity_%20_(GO:0004984)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 92638 rs199618747 A T 241.23 PASS FUNCOTATION=[RP11-34P13.7|hg19|chr1|92638|92638|LINCRNA||SNP|A|A|T|g.chr1:92638A>T|ENST00000466430.1|-|||c.e3+398T>A|||0.44139650872817954|AACCTCTCCAAACCTCAGTCC|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4430272|92638|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000102000100|1|false|111|rs4430272|] +1 93097 . C T 390.35 PASS FUNCOTATION=[RP11-34P13.7|hg19|chr1|93097|93097|LINCRNA||SNP|C|C|T|g.chr1:93097C>T|ENST00000466430.1|-|||c.e3+857G>A|||0.3316708229426434|TGAACTTCAGCGTCTGGACAA|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|62642102|93097|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000002000100|1|false|129|rs62642102|] +1 93449 . A G 142.26 PASS FUNCOTATION=[RP11-34P13.7|hg19|chr1|93449|93449|LINCRNA||SNP|A|A|G|g.chr1:93449A>G|ENST00000466430.1|-|||c.e3+1209T>C|||0.33915211970074816|TTAACAGAAAAAGAAAATATG|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|867796198|93449|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000002000100|1|false|147|rs867796198|] +1 93757 . C T 331.41 PASS FUNCOTATION=[RP11-34P13.7|hg19|chr1|93757|93757|LINCRNA||SNP|C|C|T|g.chr1:93757C>T|ENST00000466430.1|-|||c.e3+1517G>A|||0.4339152119700748|TGTTTTTAGACGGAGTCTTGC|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|867679461|93757|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000002000100|1|false|147|rs867679461|] +1 94271 rs200715572 C G 178.71 PASS FUNCOTATION=[RP11-34P13.7|hg19|chr1|94271|94271|LINCRNA||SNP|C|C|G|g.chr1:94271C>G|ENST00000466430.1|-|||c.e3+2031G>C|||0.4688279301745636|CCTATGGCCGCTGTTAGGATC|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|200715572|94271|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000005000002000100|1|false|137|rs200715572|] +1 94570 rs200113991 T G 26.58 PASS FUNCOTATION=[RP11-34P13.7|hg19|chr1|94570|94570|LINCRNA||SNP|T|T|G|g.chr1:94570T>G|ENST00000466430.1|-|||c.e3+2330A>C|||0.4763092269326683|CAAGATGGCCTCACTCACAGG|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|200113991|94570|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000005000002000100|1|false|137|rs200113991|] +1 94824 . C CT 93.67 PASS FUNCOTATION=[RP11-34P13.7|hg19|chr1|94824|94825|LINCRNA||INS|-|-|T|g.chr1:94824_94825insT|ENST00000466430.1|-|||c.e3+2584G>AG|||0.4325|TTTTCTTTTCTTTTTTTTTT|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 95907 . A C 152.58 PASS FUNCOTATION=[RP11-34P13.7|hg19|chr1|95907|95907|LINCRNA||SNP|A|A|C|g.chr1:95907A>C|ENST00000466430.1|-|||c.e3+3667T>G|||0.513715710723192|CATACTGCACAAGGAGGGAAC|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 96431 . T A 31.31 PASS FUNCOTATION=[RP11-34P13.7|hg19|chr1|96431|96431|LINCRNA||SNP|T|T|A|g.chr1:96431T>A|ENST00000466430.1|-|||c.e3+4191A>T|||0.4538653366583541|GGTGTCTGTGTGGGCTGGGGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 97661 rs200930721 T C 27.30 PASS FUNCOTATION=[RP11-34P13.7|hg19|chr1|97661|97661|LINCRNA||SNP|T|T|C|g.chr1:97661T>C|ENST00000466430.1|-|||c.e3+5421A>G|||0.32917705735660846|AGTTGTAAAATAGATCTTTTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4317759|97661|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000005000002000100|1|false|111|rs4317759|] +1 135040 rs141523926 T C 561.12 PASS FUNCOTATION=[AL627309.1|hg19|chr1|135040|135040|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:135040T>C|ENST00000423372.3|-|2|||||0.5261845386533666|ACGTGAGGAATGAGCTGGGCC||||||||||||||||||||||||||||||||||AL627309||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|LOC729737:729737|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|62642130|135040|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000016000100|1|false|129|rs62642130|] +1 137622 rs376555721 G A 103.11 PASS FUNCOTATION=[AL627309.1|hg19|chr1|137622|137622|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:137622G>A|ENST00000423372.3|-|1|||||0.655860349127182|AGGCAGGGCCGGGAGAGCCCG||||||||||||||||||||||||||||||||||AL627309||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|LOC729737:729737|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|376555721|137622|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000005000002000100|1|false|138|rs376555721|] +1 137825 rs147252685 G A 260.25 PASS FUNCOTATION=[AL627309.1|hg19|chr1|137825|137825|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:137825G>A|ENST00000423372.3|-|1|||||0.6483790523690773|GACCAAGGCCGCCAGGAGATG||||||||||||||||||||||||||||||||||AL627309||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|LOC729737:729737|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|147252685|137825|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000016000100|1|false|134|rs147252685|] +1 138156 rs370691115 G T 368.12 PASS FUNCOTATION=[AL627309.1|hg19|chr1|138156|138156|THREE_PRIME_UTR||SNP|G|G|T|g.chr1:138156G>T|ENST00000423372.3|-|1|||||0.6683291770573566|TGGAGAGTCCGCTGTGAGGCA||||||||||||||||||||||||||||||||||AL627309||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|LOC729737:729737|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|370691115|138156|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000002000100|1|false|138|rs370691115|] +1 138593 rs375595668 G T 204.25 PASS FUNCOTATION=[AL627309.1|hg19|chr1|138593|138593|SILENT||SNP|G|G|T|g.chr1:138593G>T|ENST00000423372.3|-|1|787|c.717C>A|c.(715-717)gcC>gcA|p.A239A|0.57356608478803|GCTGCTGGCAGGCAGGCAGAA||||||||||||||||||||||||||||||||||AL627309||||||||||||||||||||||||||||||||||||||||||true|false|0.9549_%2C_0.04513|false|false|1||false|true|false|LOC729737:729737|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|375595668|138593|false|false|0|true|0|false||false|false|false|SNV|true|0x050100000005150026000100|1|false|138|rs375595668|] +1 139058 . C G 407.93 PASS FUNCOTATION=[AL627309.1|hg19|chr1|139058|139058|SILENT||SNP|C|C|G|g.chr1:139058C>G|ENST00000423372.3|-|1|322|c.252G>C|c.(250-252)cgG>cgC|p.R84R|0.5910224438902744|CAGGAGTTGGCCGTGGAGAGG||||||||||||||||||||||||||||||||||AL627309||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|LOC729737:729737|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|62642132|139058|false|false|0|false|1|false||false|false|false|SNV|false|0x050000000005000002000140|1|false|129|rs62642132|] +1 139213 rs370723703 A G 404.25 PASS FUNCOTATION=[AL627309.1|hg19|chr1|139213|139213|MISSENSE||SNP|A|A|G|g.chr1:139213A>G|ENST00000423372.3|-|1|167|c.97T>C|c.(97-99)Tgc>Cgc|p.C33R|0.5960099750623441|CTTGTGAAGCATGAGCTTGGC||||||||||||||||||||||||||||||||||AL627309||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|true|true|LOC729737:729737|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|370723703|139213|false|false|0|true|0|false||false|false|false|SNV|true|0x050100000005070002000100|1|false|138|rs370723703|] +1 139233 rs373847457 C A 508.25 PASS FUNCOTATION=[AL627309.1|hg19|chr1|139233|139233|MISSENSE||SNP|C|C|A|g.chr1:139233C>A|ENST00000423372.3|-|1|147|c.77G>T|c.(76-78)gGc>gTc|p.G26V|0.600997506234414|CCTAAAGAGGCCACTGGGTGG||||||||||||||||||||||||||||||||||AL627309||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|true|true|LOC729737:729737|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|373847457|139233|false|false|0|true|0|false||false|false|false|SNV|true|0x050100000005070002000100|1|false|138|rs373847457|] +1 739130 . TA T 122.25 PASS FUNCOTATION=[AL669831.1|hg19|chr1|739131|739131|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:739131delA|ENST00000599533.1|-|1|8|c.7delT|c.(7-9)tacfs|p.Y3fs|0.3740648379052369|ATGATAAAGTAAAAAAAAAAA|RP11-206L10.8_ENST00000447500.1_RNA|||||||||||||||||||||||||||||||||AL669831||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|568704157|739131|false|false|0|false|0|false||false|false|false|DIV|false|0x050000000005000002000200|1|false|142|rs568704157|] +1 865628 rs41285790 G A 243.25 PASS FUNCOTATION=[SAMD11|hg19|chr1|865628|865628|MISSENSE||SNP|G|G|A|g.chr1:865628G>A|ENST00000342066.3|+|3|249|c.166G>A|c.(166-168)Ggt>Agt|p.G56S|0.655860349127182|TGCCAGCGATGGTGACAGCGA|AL645608.1_ENST00000598827.1_SILENT_p.T38T|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9972_%2C_0.002796|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|41285790|865628|false|false|0|true|0|false|0.996909_%2C_0.00309087|false|false|false|SNV|true|0x050100000a05040436000100|1|false|127|rs41285790|] +1 877831 rs6672356 T C 3309.69 PASS FUNCOTATION=[SAMD11|hg19|chr1|877831|877831|MISSENSE||SNP|T|T|C|g.chr1:877831T>C|ENST00000342066.3|+|10|1110|c.1027T>C|c.(1027-1029)Tgg>Cgg|p.W343R|0.7655860349127181|GATGTTCGCCTGGCAGCAGGA||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0_%2C_1|false|false|0||false|false|false|SAMD11:148398|true|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|6672356|877831|false|false|0|true|0|false|0.000377773_%2C_0.999622|false|false|false|SNV|true|0x050100080a05040536000100|1|false|116|rs6672356|] +1 878331 rs148327885 C T 511.25 PASS FUNCOTATION=[SAMD11|hg19|chr1|878331|878331|MISSENSE||SNP|C|C|T|g.chr1:878331C>T|ENST00000342066.3|+|11|1540|c.1457C>T|c.(1456-1458)cCg>cTg|p.P486L|0.6882793017456359|GGGCCCACTCCGGGCCAAGCT||||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1)|||||||JX093091|NM_152486.2|NP_689699.2|HGNC:28706|sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC45873||1p36.33|2014-11-19|||BC024295||148398|ENSG00000187634|12477932|NM_152486|760|Sterile_%20_alpha_%20_motif_%20_domain_%20_containing|CCDS2|OTTHUMG00000040719|148398|616765|NM_152486|Q96NU1|ENSG00000187634|uc001abw.2|SAM11_HUMAN||A2AA76_%7C_I7FV78_%7C_I7FV81_%7C_I7G0Z6_%7C_Q5SV96_%7C_Q5SV99_%7C_Q5SVA0_%7C_Q8N195_%7C_Q8TB59|Q96NU1|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)|nucleus_%20_(GO:0005634)|||||true|false|0.9948_%2C_0.005192|false|false|1||false|false|false|SAMD11:148398|false|false|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|148327885|878331|false|false|0|false|0|false|0.990795_%2C_0.00920456|false|false|false|SNV|true|0x050000080a05040036000100|1|false|134|rs148327885|] +1 879676 rs6605067 G A 5063.69 PASS FUNCOTATION=[NOC2L|hg19|chr1|879676|879676|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:879676G>A|ENST00000327044.6|-|19|||||0.5785536159600998|TCAAAGGAAAGGAACAAATTT|SAMD11_ENST00000342066.3_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.114_%2C_0.886|false|false|1||false|true|true|SAMD11:148398_%7C_NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|6605067|879676|false|false|0|true|0|true|0.116011_%2C_0.883989|false|true|false|SNV|true|0x05010084030517053e000100|1|false|116|rs6605067|] +1 879687 rs2839 T C 4923.69 PASS FUNCOTATION=[NOC2L|hg19|chr1|879687|879687|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:879687T>C|ENST00000327044.6|-|19|||||0.5810473815461347|GAACAAATTTTCAAAGACTTG|SAMD11_ENST00000342066.3_THREE_PRIME_UTR|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.07887_%2C_0.9211_%2C_.|false|false|1||false|true|false|SAMD11:148398_%7C_NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|true|false|true|2839|879687|false|false|0|true|0|false|0.067278_%2C_0.932722_%2C_.|false|true|false|SNV|true|0x050100840a0515053e000100|1|false|36|rs2839|] +1 881627 rs2272757 G A 2159.94 PASS FUNCOTATION=[NOC2L|hg19|chr1|881627|881627|SILENT||SNP|G|G|A|g.chr1:881627G>A|ENST00000327044.6|-|16|1893|c.1843C>T|c.(1843-1845)Ctg>Ttg|p.L615L|0.6408977556109726|TACAAGGTCAGGGGTGTCCCC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.5581_%2C_0.4419|false|false|1||false|true|true|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|2272757|881627|true|false|0|true|0|true|0.601312_%2C_0.398688|false|false|false|SNV|true|0x050100000305170536000100|1|false|100|rs2272757|] +1 887801 rs3828047 A G 3243.69 PASS FUNCOTATION=[NOC2L|hg19|chr1|887801|887801|SILENT||SNP|A|A|G|g.chr1:887801A>G|ENST00000327044.6|-|10|1232|c.1182T>C|c.(1180-1182)acT>acC|p.T394T|0.6334164588528678|CCTTCTTGCGAGTGGTCATGG||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.07768_%2C_0.9223_%2C_.|false|false|1||false|true|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|3828047|887801|false|false|0|true|0|true|0.067381_%2C_0.932619_%2C_.|false|false|false|SNV|true|0x05010000030515053e000100|1|false|107|rs3828047|] +1 888639 rs3748596 T C 3467.69 PASS FUNCOTATION=[NOC2L|hg19|chr1|888639|888639|SILENT||SNP|T|T|C|g.chr1:888639T>C|ENST00000327044.6|-|9|968|c.918A>G|c.(916-918)gaA>gaG|p.E306E|0.6134663341645885|GCAGAGACTCTTCCCCAGTGC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.07728_%2C_0.9227_%2C_.|false|false|1||false|true|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|3748596|888639|false|false|0|true|0|true|0.0672093_%2C_0.932791_%2C_.|false|false|false|SNV|true|0x050100000b0515053e000100|1|false|107|rs3748596|] +1 888659 rs3748597 T C 3628.69 PASS FUNCOTATION=[NOC2L|hg19|chr1|888659|888659|MISSENSE||SNP|T|T|C|g.chr1:888659T>C|ENST00000327044.6|-|9|948|c.898A>G|c.(898-900)Atc>Gtc|p.I300V|0.6084788029925187|CTCCATACGATCACCATTCTC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC003555|NM_015658.3|NP_056473.2|HGNC:24517|NOC2_%20_like_%20_nucleolar_%20_associated_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"nucleolar_%20_complex_%20_associated_%20_2_%20_homolog_%20_(S._%20_cerevisiae)"|DKFZP564C186_%2C__%20_NET7_%2C__%20_NET15_%2C__%20_NIR_%2C__%20_PPP1R112|"novel_%20_INHAT_%20_repressor"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_12"|1p36.33|2016-02-15||2016-02-15|AL050019||26155|ENSG00000188976|20123734_%2C__%20_22363708|NM_015658|694|Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS3|OTTHUMG00000040720|26155|610770|NM_015658|Q9Y3T9|ENSG00000188976|uc001abz.5|NOC2L_HUMAN||Q5SVA3_%7C_Q9BTN6|Q9Y3T9|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_chromatin_%20_assembly_%20_(GO:0031497)_%7C_negative_%20_regulation_%20_of_%20_B_%20_cell_%20_apoptotic_%20_process_%20_(GO:0002903)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_acetylation_%20_(GO:0035067)_%7C_negative_%20_regulation_%20_of_%20_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:2001243)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_nucleolus_%20_to_%20_nucleoplasm_%20_transport_%20_(GO:0032066)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleolus_%20_(GO:0005730)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|chromatin_%20_binding_%20_(GO:0003682)_%7C_histone_%20_binding_%20_(GO:0042393)_%7C_nucleosome_%20_binding_%20_(GO:0031491)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false|0.07728_%2C_0.9227|false|false|1||false|true|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|3748597|888659|false|false|0|true|0|false|0.0672093_%2C_0.932791|false|false|false|SNV|true|0x050100000a0515053f000100|1|false|107|rs3748597|] +1 897325 rs4970441 G C 3379.69 PASS FUNCOTATION=[KLHL17|hg19|chr1|897325|897325|SILENT||SNP|G|G|C|g.chr1:897325G>C|ENST00000338591.3|+|4|716|c.609G>C|c.(607-609)gcG>gcC|p.A203A|0.6483790523690773|TTGCCGATGCGCACTCCTGCA|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.1408_%2C_0.8592_%2C_.|false|false|1||false|true|false|KLHL17:339451|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|4970441|897325|true|false|0|true|0|true|0.167354_%2C_0.832646_%2C_.|false|false|false|SNV|true|0x05010002030515053e000100|1|false|111|rs4970441|] +1 900505 rs28705211 G C 979.12 PASS FUNCOTATION=[KLHL17|hg19|chr1|900505|900505|SILENT||SNP|G|G|C|g.chr1:900505G>C|ENST00000338591.3|+|12|1970|c.1863G>C|c.(1861-1863)gtG>gtC|p.V621V|0.6134663341645885|GTGTGGCGGTGCTGGAGCTGC|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.8313_%2C_0.1687|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|28705211|900505|false|true|0|true|0|true|0.830071_%2C_0.169929|false|false|false|SNV|true|0x050300020305150536000100|1|false|125|rs28705211|] +1 900717 rs374537094 CTTAT C 2513.94 PASS FUNCOTATION=[KLHL17|hg19|chr1|900718|900721|THREE_PRIME_UTR||DEL|TTAT|TTAT|-|g.chr1:900718_900721delTTAT|ENST00000338591.3|+|12|||||0.6014851485148515|GTTATTTATCTTATTTATTGAGGG|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.6294_%2C_0.3706_%7C_0.6294_%2C_0.3706|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|false_%7C_false|PLEKHN1:84069_%7C_KLHL17:339451_%7C_PLEKHN1:84069_%7C_KLHL17:339451|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_true|false_%7C_false|142545439_%7C_374537094|900718_%7C_900723|false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|0_%7C_0|false_%7C_false|0.619651_%2C_0.380349_%7C_|false_%7C_false|true_%7C_true|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05000082000515003e000200_%7C_0x050000820005000002000200|1_%7C_1|false_%7C_false|134_%7C_138|rs142545439_%7C_rs374537094|_%7C_] +1 900730 rs3935066 G A 4418.69 PASS FUNCOTATION=[KLHL17|hg19|chr1|900730|900730|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:900730G>A|ENST00000338591.3|+|12|||||0.6059850374064838|ATTTATTGAGGGGTGAGGAGT|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.3526_%2C_0.6474|false|false|1||false|true|true|PLEKHN1:84069_%7C_KLHL17:339451|true|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3935066|900730|true|false|0|true|0|false|0.383405_%2C_0.616595|false|true|false|SNV|true|0x05010082000517052f000100|1|false|108|rs3935066|] +1 900972 rs9697711 T G 3993.69 PASS FUNCOTATION=[KLHL17|hg19|chr1|900972|900972|THREE_PRIME_UTR||SNP|T|T|G|g.chr1:900972T>G|ENST00000338591.3|+|12|||||0.628428927680798|TGGGGAGCAGTTGTCCTTCCT|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.06989_%2C_._%2C_0.9301|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|9697711|900972|false|false|0|true|0|false|0.0587952_%2C_._%2C_0.941205|false|true|false|SNV|true|0x05010082000515053e000100|1|false|119|rs9697711|] +1 901023 rs13303351 T C 3583.69 PASS FUNCOTATION=[KLHL17|hg19|chr1|901023|901023|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:901023T>C|ENST00000338591.3|+|12|||||0.6209476309226932|GATCTTGTAGTGGGTGCACAC|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471183|NM_198317.2|NP_938073.1|HGNC:24023|kelch_%20_like_%20_family_%20_member_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"kelch-like_%20_17_%20_(Drosophila)"||"actinfilin"|1p36.33|2016-10-05||2015-11-18|AY423763||339451|ENSG00000187961|12063253|NM_198317|861_%7C_617|BTB_%20_domain_%20_containing_%7C_Kelch_%20_like|CCDS30550|OTTHUMG00000040721|339451||NM_198317|Q6TDP4|ENSG00000187961|uc001aca.3|KLH17_HUMAN||Q5SV94|Q6TDP4|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)|actin_%20_cytoskeleton_%20_(GO:0015629)_%7C_cell_%20_junction_%20_(GO:0030054)_%7C_dendrite_%20_cytoplasm_%20_(GO:0032839)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_postsynaptic_%20_density_%20_(GO:0014069)_%7C_postsynaptic_%20_membrane_%20_(GO:0045211)|protein_%20_complex_%20_scaffold_%20_(GO:0032947)||||true|false|0.1134_%2C_0.8866|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|13303351|901023|false|false|0|true|0|false|0.121265_%2C_0.878735|false|true|false|SNV|true|0x05010082000515053e000100|1|false|121|rs13303351|] +1 906272 rs28507236 A C 529.25 PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906272|906272|SILENT||SNP|A|A|C|g.chr1:906272A>C|ENST00000379410.3|+|6|533|c.498A>C|c.(496-498)gcA>gcC|p.A166A|0.7007481296758105|CACTGCCCGCACCCCTCCTGG|PLEKHN1_ENST00000379407.3_SILENT_p.A166A/PLEKHN1_ENST00000379409.2_SILENT_p.A206A|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.8199_%2C_0.1801|false|false|1||false|true|false|PLEKHN1:84069|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|28507236|906272|false|false|0|true|0|true|0.850436_%2C_0.149564|false|false|false|SNV|true|0x05010000030515013e000100|1|false|125|rs28507236|] +1 909238 rs3829740 G C 3368.89 PASS FUNCOTATION=[PLEKHN1|hg19|chr1|909238|909238|MISSENSE||SNP|G|G|C|g.chr1:909238G>C|ENST00000379410.3|+|14|1495|c.1460G>C|c.(1459-1461)cGt>cCt|p.R487P|0.6758104738154613|CAGAGTGCACGTGGACCCACG|PLEKHN1_ENST00000379407.3_MISSENSE_p.R452P/PLEKHN1_ENST00000379409.2_MISSENSE_p.R539P|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.2234_%2C_0.7766|false|false|1||false|true|true|PLEKHN1:84069|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|3829740|909238|true|false|0|true|0|false|0.307061_%2C_0.692939|false|false|false|SNV|true|0x050100000a0517053e000100|1|false|107|rs3829740|] +1 909242 rs3829739 A G 804.25 PASS FUNCOTATION=[PLEKHN1|hg19|chr1|909242|909242|SILENT||SNP|A|A|G|g.chr1:909242A>G|ENST00000379410.3|+|14|1499|c.1464A>G|c.(1462-1464)ggA>ggG|p.G488G|0.6783042394014963|GTGCACGTGGACCCACGCCCT|PLEKHN1_ENST00000379407.3_SILENT_p.G453G/PLEKHN1_ENST00000379409.2_SILENT_p.G540G|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471183|NM_032129.2|NP_115505.2|HGNC:25284|pleckstrin_%20_homology_%20_domain_%20_containing_%20_N1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"pleckstrin_%20_homology_%20_domain_%20_containing_%2C__%20_family_%20_N_%20_member_%20_1"|DKFZP434H2010||1p36.33|2015-11-18||2015-11-18|AL136730||84069|ENSG00000187583|11230166|NM_032129|682|Pleckstrin_%20_homology_%20_domain_%20_containing|CCDS4_%2C__%20_CCDS53256|OTTHUMG00000040756|84069||NM_001160184|Q494U1|ENSG00000187583|uc001acd.4|PKHN1_HUMAN||Q494U2_%7C_Q5SV98_%7C_Q9H0M7|Q494U1|||||||true|false|0.8682_%2C_0.1318|false|false|1||false|true|false|PLEKHN1:84069|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|3829739|909242|true|false|0|true|0|true|0.879456_%2C_0.120544|false|false|false|SNV|true|0x05010000030515013e000100|1|false|107|rs3829739|] +1 911595 rs7417106 A G 2958.89 PASS FUNCOTATION=[C1orf170|hg19|chr1|911595|911595|MISSENSE||SNP|A|A|G|g.chr1:911595A>G|ENST00000341290.2|-|5|2024|c.1988T>C|c.(1987-1989)gTg>gCg|p.V663A|0.7082294264339152|CCCTTGCCCCACCTGCCGGCG|C1orf170_ENST00000433179.2_MISSENSE_p.V683A|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||||||||||||||||||||||||||||||||||PERM1_HUMAN||Q6ZVZ7_%7C_Q9BRF2_%7C_S5G239|Q5SV97|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_response_%20_to_%20_muscle_%20_activity_%20_(GO:0014850)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|||||true|false|0.2897_%2C_0.7103|false|false|1||false|true|false|PERM1:84808|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|7417106|911595|false|false|0|true|0|false|0.349818_%2C_0.650182|false|false|false|SNV|true|0x050100000a0515053e000100|1|false|116|rs7417106|] +1 914333 rs13302979 C G 3769.69 PASS FUNCOTATION=[C1orf170|hg19|chr1|914333|914333|MISSENSE||SNP|C|C|G|g.chr1:914333C>G|ENST00000341290.2|-|3|1771|c.1735G>C|c.(1735-1737)Gag>Cag|p.E579Q|0.7032418952618454|CCCGCCCCCTCGGAGGCCGAC|C1orf170_ENST00000433179.2_MISSENSE_p.E599Q|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||||||||||||||||||||||||||||||||||PERM1_HUMAN||Q6ZVZ7_%7C_Q9BRF2_%7C_S5G239|Q5SV97|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_response_%20_to_%20_muscle_%20_activity_%20_(GO:0014850)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|||||true|false|0.4437_%2C_0.5563|false|false|1||false|true|true|PERM1:84808|true|false|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|13302979|914333|false|false|0|true|0|false|0.526547_%2C_0.473453|false|false|false|SNV|true|0x050100000a0517013e000100|1|false|121|rs13302979|] +1 935459 rs3128113 A G 2299.94 PASS FUNCOTATION=[HES4|hg19|chr1|935459|935459|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:935459A>G|ENST00000304952.6|-|1|||||0.770573566084788|CCTAGGGCGGATCCCGGCTCC|HES4_ENST00000428771.2_FIVE_PRIME_UTR/HES4_ENST00000484667.2_FIVE_PRIME_FLANK/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC012351|||HGNC:24149|hes_%20_family_%20_bHLH_%20_transcription_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"hairy_%20_and_%20_enhancer_%20_of_%20_split_%20_4_%20_(Drosophila)"|bHLHb42||1p36.33|2016-10-05||2013-10-17|BC012351||57801|ENSG00000188290|11260262_%2C__%20_15254753|NM_021170|420|Basic_%20_helix-loop-helix_%20_proteins|CCDS5_%2C__%20_CCDS44034|OTTHUMG00000040758|57801|608060|NM_001142467|Q9HCC6|ENSG00000188290|uc001aci.3|HES4_HUMAN||Q5SVA5|Q9HCC6|cell_%20_differentiation_%20_(GO:0030154)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)||||true|false|0.3229_%2C_0.6771|false|false|1||false|true|true|HES4:57801|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3128113|935459|false|false|0|true|0|false|0.394773_%2C_0.605227|false|false|true|SNV|true|0x050100400005170136000100|1|false|103|rs3128113|] +1 935492 rs3121571 G T 2300.94 PASS FUNCOTATION=[HES4|hg19|chr1|935492|935492|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:935492G>T|ENST00000428771.2|-|1|||||0.773067331670823|GCCTCAGGCCGTTTCCCTATT|HES4_ENST00000304952.6_FIVE_PRIME_FLANK/HES4_ENST00000484667.2_FIVE_PRIME_FLANK/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||AL645608|NM_021170.3|NP_066993.1|HGNC:24149|hes_%20_family_%20_bHLH_%20_transcription_%20_factor_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"hairy_%20_and_%20_enhancer_%20_of_%20_split_%20_4_%20_(Drosophila)"|bHLHb42||1p36.33|2016-10-05||2013-10-17|BC012351||57801|ENSG00000188290|11260262_%2C__%20_15254753|NM_021170|420|Basic_%20_helix-loop-helix_%20_proteins|CCDS5_%2C__%20_CCDS44034|OTTHUMG00000040758|57801|608060|NM_001142467|Q9HCC6|ENSG00000188290|uc001aci.3|HES4_HUMAN||Q5SVA5|Q9HCC6|cell_%20_differentiation_%20_(GO:0030154)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)||||true|false|0.3229_%2C_0.6771|false|false|1||false|true|true|HES4:57801|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3121571|935492|true|false|0|true|0|false|0.395597_%2C_0.604403|false|false|true|SNV|true|0x050100400005170136000100|1|false|103|rs3121571|] +1 948846 rs3841266 T TA 4675.73 PASS FUNCOTATION=[ISG15|hg19|chr1|948846|948847|FIVE_PRIME_UTR||INS|-|-|A|g.chr1:948846_948847insA|ENST00000379389.4|+|1|||||0.6225|CCTCAGGCTTATAATAGGGC|RP11-54O7.11_ENST00000458555.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M21786|NM_005101.3|NP_005092.1|HGNC:4053|ISG15_%20_ubiquitin-like_%20_modifier|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|G1P2|"interferon_%2C__%20_alpha-inducible_%20_protein_%20_(clone_%20_IFI-15K)"|IFI15_%2C__%20_UCRP||1p36.33|2015-08-25|2006-04-28|2006-04-28|BC009507||9636|ENSG00000187608|3087979|NM_005101|||CCDS6|OTTHUMG00000040777|9636|147571|NM_005101|P05161|ENSG00000187608|uc001acj.5|ISG15_HUMAN||Q5SVA4_%7C_Q7Z2G2_%7C_Q96GF0|P05161|cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_defense_%20_response_%20_to_%20_bacterium_%20_(GO:0042742)_%7C_defense_%20_response_%20_to_%20_virus_%20_(GO:0051607)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_ISG15-protein_%20_conjugation_%20_(GO:0032020)_%7C_modification-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0019941)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032480)_%7C_negative_%20_regulation_%20_of_%20_viral_%20_genome_%20_replication_%20_(GO:0045071)_%7C_positive_%20_regulation_%20_of_%20_erythrocyte_%20_differentiation_%20_(GO:0045648)_%7C_regulation_%20_of_%20_interferon-gamma_%20_production_%20_(GO:0032649)_%7C_response_%20_to_%20_type_%20_I_%20_interferon_%20_(GO:0034340)_%7C_type_%20_I_%20_interferon_%20_signaling_%20_pathway_%20_(GO:0060337)_%7C_viral_%20_process_%20_(GO:0016032)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|protein_%20_tag_%20_(GO:0031386)||||true|false|0.1456_%2C_0.8544|false|false|1||false|true|false|ISG15:9636|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3841266|948846|true|false|0|true|0|false||false|false|false|DIV|true|0x05010002000515013e000200|1|false|107|rs3841266|] +1 948870 rs4615788 C G 4296.69 PASS FUNCOTATION=[ISG15|hg19|chr1|948870|948870|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:948870C>G|ENST00000379389.4|+|1|||||0.6184538653366584|TGCTGCCTGCCGAAGCCGGCG|RP11-54O7.11_ENST00000458555.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M21786|NM_005101.3|NP_005092.1|HGNC:4053|ISG15_%20_ubiquitin-like_%20_modifier|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|G1P2|"interferon_%2C__%20_alpha-inducible_%20_protein_%20_(clone_%20_IFI-15K)"|IFI15_%2C__%20_UCRP||1p36.33|2015-08-25|2006-04-28|2006-04-28|BC009507||9636|ENSG00000187608|3087979|NM_005101|||CCDS6|OTTHUMG00000040777|9636|147571|NM_005101|P05161|ENSG00000187608|uc001acj.5|ISG15_HUMAN||Q5SVA4_%7C_Q7Z2G2_%7C_Q96GF0|P05161|cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_defense_%20_response_%20_to_%20_bacterium_%20_(GO:0042742)_%7C_defense_%20_response_%20_to_%20_virus_%20_(GO:0051607)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_ISG15-protein_%20_conjugation_%20_(GO:0032020)_%7C_modification-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0019941)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032480)_%7C_negative_%20_regulation_%20_of_%20_viral_%20_genome_%20_replication_%20_(GO:0045071)_%7C_positive_%20_regulation_%20_of_%20_erythrocyte_%20_differentiation_%20_(GO:0045648)_%7C_regulation_%20_of_%20_interferon-gamma_%20_production_%20_(GO:0032649)_%7C_response_%20_to_%20_type_%20_I_%20_interferon_%20_(GO:0034340)_%7C_type_%20_I_%20_interferon_%20_signaling_%20_pathway_%20_(GO:0060337)_%7C_viral_%20_process_%20_(GO:0016032)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|protein_%20_tag_%20_(GO:0031386)||||true|false|0.09704_%2C_0.903|false|false|1||false|true|false|ISG15:9636|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4615788|948870|false|false|0|true|0|false|0.139021_%2C_0.860979|false|false|true|SNV|true|0x05010040000515053e000100|1|false|111|rs4615788|] +1 948921 rs15842 T C 3295.69 PASS FUNCOTATION=[ISG15|hg19|chr1|948921|948921|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:948921T>C|ENST00000379389.4|+|1|||||0.6134663341645885|TACAGGAGCTTGTGCCGTGGC|RP11-54O7.11_ENST00000458555.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M21786|NM_005101.3|NP_005092.1|HGNC:4053|ISG15_%20_ubiquitin-like_%20_modifier|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|G1P2|"interferon_%2C__%20_alpha-inducible_%20_protein_%20_(clone_%20_IFI-15K)"|IFI15_%2C__%20_UCRP||1p36.33|2015-08-25|2006-04-28|2006-04-28|BC009507||9636|ENSG00000187608|3087979|NM_005101|||CCDS6|OTTHUMG00000040777|9636|147571|NM_005101|P05161|ENSG00000187608|uc001acj.5|ISG15_HUMAN||Q5SVA4_%7C_Q7Z2G2_%7C_Q96GF0|P05161|cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_defense_%20_response_%20_to_%20_bacterium_%20_(GO:0042742)_%7C_defense_%20_response_%20_to_%20_virus_%20_(GO:0051607)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_ISG15-protein_%20_conjugation_%20_(GO:0032020)_%7C_modification-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0019941)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031397)_%7C_negative_%20_regulation_%20_of_%20_type_%20_I_%20_interferon_%20_production_%20_(GO:0032480)_%7C_negative_%20_regulation_%20_of_%20_viral_%20_genome_%20_replication_%20_(GO:0045071)_%7C_positive_%20_regulation_%20_of_%20_erythrocyte_%20_differentiation_%20_(GO:0045648)_%7C_regulation_%20_of_%20_interferon-gamma_%20_production_%20_(GO:0032649)_%7C_response_%20_to_%20_type_%20_I_%20_interferon_%20_(GO:0034340)_%7C_type_%20_I_%20_interferon_%20_signaling_%20_pathway_%20_(GO:0060337)_%7C_viral_%20_process_%20_(GO:0016032)|cytosol_%20_(GO:0005829)_%7C_extracellular_%20_region_%20_(GO:0005576)|protein_%20_tag_%20_(GO:0031386)||||true|false|0.09685_%2C_0.9032_%2C_.|false|false|1||false|true|false|ISG15:9636|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|15842|948921|true|false|0|true|0|false|0.138608_%2C_0.861392_%2C_.|false|false|true|SNV|true|0x05012840000515053f000100|1|false|52|rs15842|] +1 1009478 rs9442367 G C 2779.69 PASS FUNCOTATION=[RNF223|hg19|chr1|1009478|1009478|FIVE_PRIME_UTR||SNP|G|G|C|g.chr1:1009478G>C|ENST00000453464.2|-|1|||||0.6932668329177057|CTGCCCTGCCGTGGCAGTGTC||||||||||||||||||||||||||||||||||AL390719|NM_001205252.1|NP_001192181.1|HGNC:40020|ring_%20_finger_%20_protein_%20_223|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.33|2015-09-09|||||401934|ENSG00000237330||NM_001205252|58|Ring_%20_finger_%20_proteins|CCDS53257|OTTHUMG00000185582|401934||NM_001205252|E7ERA6|ENSG00000237330|uc021oen.2|RN223_HUMAN||B4DKI4|E7ERA6||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.1867_%2C_0.8133|false|false|1||false|true|true|RNF223:401934|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|9442367|1009478|false|false|0|true|0|false|0.224466_%2C_0.775534|false|false|true|SNV|true|0x05010040000517013e000100|1|false|119|rs9442367|] +1 1027070 rs11260590 G A 184.25 PASS FUNCOTATION=[C1orf159|hg19|chr1|1027070|1027070|INTRON||SNP|G|G|A|g.chr1:1027070G>A|ENST00000379339.1|-|||c.e4+125C>T|||0.6708229426433915|GGAGGGCAGAGCCAAATGGAG|C1orf159_ENST00000421241.2_INTRON/C1orf159_ENST00000379319.1_INTRON/C1orf159_ENST00000379320.1_FIVE_PRIME_UTR/C1orf159_ENST00000448924.1_INTRON/C1orf159_ENST00000294576.5_INTRON/C1orf159_ENST00000437760.1_INTRON/C1orf159_ENST00000482816.1_INTRON|||||||||||||||||||||||||||||||||BC008788|||HGNC:26062|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_159|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ20584||1p36.33|2016-09-30|||AK128434||54991|ENSG00000131591|12975309|NM_017891|||CCDS7_%2C__%20_CCDS81250|OTTHUMG00000000745|54991||NM_017891|Q96HA4|ENSG00000131591|uc001acu.3|CA159_HUMAN||B3KQ46_%7C_Q5T2W6_%7C_Q6UX67_%7C_Q6ZR77_%7C_Q9NWV0|Q96HA4||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.8105_%2C_0.1895|false|false|1||false|true|true|C1orf159:54991|true|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11260590|1027070|false|false|0|true|0|false|0.785597_%2C_0.214403|false|false|false|SNV|true|0x050100080005170136000100|1|false|120|rs11260590|] +1 1260009 . A AC 290.29 PASS FUNCOTATION=[CPSF3L|hg19|chr1|1260009|1260010|FIVE_PRIME_UTR||INS|-|-|C|g.chr1:1260009_1260010insC|ENST00000435064.1|-|1|||||0.7625|CGCTCCCGGACCCGCGAGGC|CPSF3L_ENST00000421495.2_FIVE_PRIME_UTR/CPSF3L_ENST00000450926.2_FIVE_PRIME_UTR/CPSF3L_ENST00000411962.1_FIVE_PRIME_UTR/CPSF3L_ENST00000419704.1_FIVE_PRIME_UTR/CPSF3L_ENST00000545578.1_FIVE_PRIME_UTR/GLTPD1_ENST00000343938.4_FIVE_PRIME_FLANK/CPSF3L_ENST00000540437.1_FIVE_PRIME_FLANK/GLTPD1_ENST00000464957.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533557|NM_017871.5|NP_060341.2||||||||||||||||||||||||||||||INT11_HUMAN||A8K5S2_%7C_B3KPR3_%7C_B4DM87_%7C_G3V1S5_%7C_Q5TA46_%7C_Q5TA48_%7C_Q5TA52_%7C_Q5TA53_%7C_Q5TA54_%7C_Q7L3D7_%7C_Q96HY1_%7C_Q9BW36_%7C_Q9H0F9_%7C_Q9H8R5_%7C_Q9HAA6_%7C_Q9NWX9|Q5TA45|snRNA_%20_processing_%20_(GO:0016180)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integrator_%20_complex_%20_(GO:0032039)|hydrolase_%20_activity_%20_(GO:0016787)||||true|false||false|false|||false|false|false|CPTP:80772_%7C_CPSF3L:54973_%7C_GLTPD1:80772|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|575875502|1260009|false|false|0|false|0|false|0.991243_%2C_0.00875747|false|false|true|DIV|true|0x050000420005040002000200|1|false|142|rs575875502|] +1 1260168 rs61766199 C A 1816.69 PASS FUNCOTATION=[GLTPD1|hg19|chr1|1260168|1260168|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:1260168C>A|ENST00000343938.4|+|1|||||0.7605985037406484|GAGGGCGGGGCGGTGGGCGGG|CPSF3L_ENST00000411962.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000419704.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000421495.2_FIVE_PRIME_FLANK/CPSF3L_ENST00000435064.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000450926.2_FIVE_PRIME_FLANK/CPSF3L_ENST00000540437.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000545578.1_FIVE_PRIME_FLANK/GLTPD1_ENST00000464957.1_INTRON|||||||||||||||||||||||||||||||||JN542538|NM_001029885.1|NP_001025056.1||||||||||||||||||||||||||||||CPTP_HUMAN||Q4G0E6_%7C_Q7L5A4|Q5TA50|ceramide_%20_1-phosphate_%20_transport_%20_(GO:1902389)|endosome_%20_(GO:0005768)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)|ceramide_%20_1-phosphate_%20_binding_%20_(GO:1902387)_%7C_ceramide_%20_1-phosphate_%20_transporter_%20_activity_%20_(GO:1902388)_%7C_glycolipid_%20_binding_%20_(GO:0051861)_%7C_phospholipid_%20_binding_%20_(GO:0005543)_%7C_phospholipid_%20_transporter_%20_activity_%20_(GO:0005548)||||true|false|0.2911_%2C_0.7089|false|false|1||false|true|true|CPTP:80772_%7C_CPSF3L:54973_%7C_GLTPD1:80772|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|61766199|1260168|false|false|0|true|0|false|0.328697_%2C_0.671303|false|false|true|SNV|true|0x050100420005170136000100|1|false|129|rs61766199|] +1 1284490 rs150789461 G A 3031.69 PASS FUNCOTATION=[DVL1|hg19|chr1|1284490|1284490|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:1284490G>A|ENST00000378888.5|-|1|||||0.7805486284289277|GCCCGGCCCGGGGCTCGGACG|DVL1_ENST00000378891.5_FIVE_PRIME_UTR|||||||||||||||||||||||||683|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL139287|||HGNC:3084|dishevelled_%20_segment_%20_polarity_%20_protein_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"dishevelled_%20_1_%20_(homologous_%20_to_%20_Drosophila_%20_dsh)"_%2C__%20_"dishevelled_%2C__%20_dsh_%20_homolog_%20_1_%20_(Drosophila)"|||1p36.33|2016-10-05||2013-05-22|AF006011||1855|ENSG00000107404|8817329|NM_004421|505_%7C_1220|Dishevelled_%20_segment_%20_polarity_%20_proteins_%7C_PDZ_%20_domain_%20_containing|CCDS22_%2C__%20_CCDS81252|OTTHUMG00000003069|1855|601365|NM_004421|O14640|ENSG00000107404|uc002quu.4|DVL1_HUMAN||Q5TA33_%7C_Q5TA35|O14640|axon_%20_extension_%20_(GO:0048675)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0060070)_%7C_cochlea_%20_morphogenesis_%20_(GO:0090103)_%7C_collateral_%20_sprouting_%20_(GO:0048668)_%7C_convergent_%20_extension_%20_(GO:0060026)_%7C_convergent_%20_extension_%20_involved_%20_in_%20_neural_%20_plate_%20_elongation_%20_(GO:0022007)_%7C_cytoplasmic_%20_microtubule_%20_organization_%20_(GO:0031122)_%7C_dendrite_%20_morphogenesis_%20_(GO:0048813)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0032091)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0006469)_%7C_neural_%20_tube_%20_development_%20_(GO:0021915)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_neurotransmitter_%20_secretion_%20_(GO:0007269)_%7C_planar_%20_cell_%20_polarity_%20_pathway_%20_involved_%20_in_%20_neural_%20_tube_%20_closure_%20_(GO:0090179)_%7C_positive_%20_regulation_%20_of_%20_canonical_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0090263)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_projection_%20_development_%20_(GO:0010976)_%7C_positive_%20_regulation_%20_of_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0032436)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_positive_%20_regulation_%20_of_%20_Wnt_%20_signaling_%20_pathway_%20_(GO:0030177)_%7C_prepulse_%20_inhibition_%20_(GO:0060134)_%7C_protein_%20_localization_%20_to_%20_microtubule_%20_(GO:0035372)_%7C_protein_%20_localization_%20_to_%20_nucleus_%20_(GO:0034504)_%7C_receptor_%20_clustering_%20_(GO:0043113)_%7C_regulation_%20_of_%20_neurotransmitter_%20_levels_%20_(GO:0001505)_%7C_skeletal_%20_muscle_%20_acetylcholine-gated_%20_channel_%20_clustering_%20_(GO:0071340)_%7C_social_%20_behavior_%20_(GO:0035176)_%7C_synapse_%20_organization_%20_(GO:0050808)_%7C_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006366)_%7C_Wnt_%20_signaling_%20_pathway_%2C__%20_planar_%20_cell_%20_polarity_%20_pathway_%20_(GO:0060071)|axon_%20_(GO:0030424)_%7C_cell_%20_cortex_%20_(GO:0005938)_%7C_clathrin-coated_%20_vesicle_%20_(GO:0030136)_%7C_cytoplasmic_%20_membrane-bounded_%20_vesicle_%20_(GO:0016023)_%7C_cytoplasmic_%20_vesicle_%20_(GO:0031410)_%7C_dendrite_%20_(GO:0030425)_%7C_growth_%20_cone_%20_(GO:0030426)_%7C_microtubule_%20_(GO:0005874)_%7C_neuronal_%20_cell_%20_body_%20_(GO:0043025)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_synapse_%20_(GO:0045202)|enzyme_%20_binding_%20_(GO:0019899)_%7C_frizzled_%20_binding_%20_(GO:0005109)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_Rac_%20_GTPase_%20_binding_%20_(GO:0048365)||||true|false|0.237_%2C_0.763|false|false|1||false|true|true|LOC101929103:101929103_%7C_DVL1:1855|false|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|150789461|1284490|false|false|0|true|0|false|0.238048_%2C_0.761952|false|false|true|SNV|true|0x050100440005170036000100|1|false|134|rs150789461|] +1 1558792 rs12755088 T C 3564.69 PASS FUNCOTATION=[MIB2|hg19|chr1|1558792|1558792|MISSENSE||SNP|T|T|C|g.chr1:1558792T>C|ENST00000505820.2|+|3|322|c.305T>C|c.(304-306)aTg>aCg|p.M102T|0.7281795511221946|CGGCCCACCATGGACCCCTCT|MIB2_ENST00000520777.1_MISSENSE_p.M102T/MIB2_ENST00000504599.1_START_CODON_SNP_p.M1T/MIB2_ENST00000355826.5_INTRON/MIB2_ENST00000378708.1_INTRON/MIB2_ENST00000518681.1_MISSENSE_p.M102T/MIB2_ENST00000378712.1_INTRON/MIB2_ENST00000357210.4_MISSENSE_p.M45T/MIB2_ENST00000360522.4_MISSENSE_p.M45T/MIB2_ENST00000378710.3_MISSENSE_p.M45T/MIB2_ENST00000512004.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC037542|||HGNC:30577|mindbomb_%20_E3_%20_ubiquitin_%20_protein_%20_ligase_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZZANK1|"zinc_%20_finger_%2C__%20_ZZ_%20_type_%20_with_%20_ankyrin_%20_repeat_%20_domain_%20_1"_%2C__%20_"mindbomb_%20_homolog_%20_2_%20_(Drosophila)"|skeletrophin_%2C__%20_ZZZ5_%2C__%20_FLJ39787||1p36.33|2016-04-25|2005-04-01|2012-02-23|AK097106||142678|ENSG00000197530|12761501|NM_080875|91_%7C_403|Zinc_%20_fingers_%20_ZZ-type_%7C_Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS41224_%2C__%20_CCDS53261_%2C__%20_CCDS53262_%2C__%20_CCDS53263_%2C__%20_CCDS53264|OTTHUMG00000074647|142678|611141|NM_001170686|Q96AX9|ENSG00000197530|uc001agg.4|MIB2_HUMAN||A2AGM5_%7C_A2AGM6_%7C_B3KV93_%7C_B3KVF4_%7C_B3KXY1_%7C_B4DZ57_%7C_E9PGU1_%7C_E9PHQ1_%7C_F8WA73_%7C_J3KNZ7_%7C_Q7Z437_%7C_Q8IY62_%7C_Q8N786_%7C_Q8N897_%7C_Q8N8R2_%7C_Q8N911_%7C_Q8NB36_%7C_Q8NCY1_%7C_Q8NG59_%7C_Q8NG60_%7C_Q8NG61_%7C_Q8NI59_%7C_Q8WYN1|Q96AX9|Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)|early_%20_endosome_%20_(GO:0005769)_%7C_ubiquitin_%20_ligase_%20_complex_%20_(GO:0000151)|ligase_%20_activity_%20_(GO:0016874)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.2264_%2C_0.7736_%2C_.|false|false|1||false|true|false|MIB2:142678|true|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|12755088|1558792|false|false|0|true|0|false||false|false|false|SNV|true|0x050100080a0515053e000100|1|false|121|rs12755088|] +1 1640294 rs199942750 TTCCTCCTCC T 679.91 PASS FUNCOTATION=[CDK11A|hg19|chr1|1640295|1640303|IN_FRAME_DEL||DEL|TCCTCCTCC|TCCTCCTCC|-|g.chr1:1640295_1640303delTCCTCCTCC|ENST00000358779.5|-|9|992_1000|c.903_911delGGAGGAGGA|c.(901-912)gaggaggaggaa>gaa|p.EEE302del|0.5794621026894865|CTCTTCCTCTTCCTCCTCCTCCTCCTCTG|CDK11A_ENST00000356200.3_IN_FRAME_DEL_p.EEE278del/CDK11A_ENST00000378633.1_IN_FRAME_DEL_p.EEE315del/CDK11A_ENST00000404249.3_IN_FRAME_DEL_p.EEE312del/CDK11A_ENST00000357760.2_IN_FRAME_DEL_p.EEE311del/CDK11A_ENST00000378638.2_IN_FRAME_DEL_p.EEE278del/CDK11A_ENST00000378635.3_THREE_PRIME_UTR/RP1-283E3.8_ENST00000598846.1_RNA/CDK11A_ENST00000495016.1_FIVE_PRIME_FLANK|Pancreas(186_%3B_965_%20_2119_%20_30274_%20_40311_%20_50569)||||||||||||||||||||||||15|oesophagus(1)_%7C_stomach(14)|||||||U07705|NM_033529.2|NP_277071.2|HGNC:1730|cyclin_%20_dependent_%20_kinase_%20_11A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CDC2L3_%2C__%20_CDC2L2|"cell_%20_division_%20_cycle_%20_2-like_%20_2"_%2C__%20_"cell_%20_division_%20_cycle_%20_2-like_%20_2_%20_(PITSLRE_%20_proteins)"|PITSLRE_%2C__%20_CDK11-p110_%2C__%20_CDK11-p58_%2C__%20_CDK11-p46_%2C__%20_p58GTA||1p36.33|2016-06-08|2009-12-16|2016-06-08|AF067522||728642|ENSG00000008128|7920654_%2C__%20_9750192_%2C__%20_19884882|NM_024011|496|Cyclin_%20_dependent_%20_kinases|CCDS44042_%2C__%20_CCDS44043_%2C__%20_CCDS81253_%2C__%20_CCDS81254|OTTHUMG00000000703|728642|116951|NM_001313896|Q9UQ88|ENSG00000008128|uc009vks.4|CD11A_HUMAN||O95227_%7C_O95228_%7C_O96012_%7C_Q12821_%7C_Q12853_%7C_Q12854_%7C_Q2TAJ0_%7C_Q5QPR0_%7C_Q5QPR1_%7C_Q5QPR2_%7C_Q9UBC4_%7C_Q9UBI3_%7C_Q9UEI1_%7C_Q9UEI2_%7C_Q9UP53_%7C_Q9UP54_%7C_Q9UP55_%7C_Q9UP56_%7C_Q9UQ86_%7C_Q9UQ87_%7C_Q9UQ89|Q9UQ88|apoptotic_%20_process_%20_(GO:0006915)_%7C_mitotic_%20_nuclear_%20_division_%20_(GO:0007067)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0001558)_%7C_regulation_%20_of_%20_mRNA_%20_processing_%20_(GO:0050684)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004693)_%7C_protein_%20_kinase_%20_activity_%20_(GO:0004672)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0004674)||||true|false||false|false|||false|false|false|CDK11A:728642|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|199942750|1640295|false|false|0|false|0|false||false|false|false|DIV|false|0x05000000000500001e000200|1|false|137|rs199942750|] +1 1684347 rs150880809 C CCCT 1136.16 PASS FUNCOTATION=[NADK|hg19|chr1|1684347|1684348|IN_FRAME_INS||INS|-|-|CCT|g.chr1:1684347_1684348insCCT|ENST00000344463.4|-|14|1994|c.1771_1772insAGG|c.(1771-1773)ggc>gAGGgc|p.590_591insE|0.5825|TTGACCTAGCCCTCCTCCTC|NADK_ENST00000378625.1_IN_FRAME_INS_p.590_591insE/NADK_ENST00000341426.5_IN_FRAME_INS_p.445_446insE/NADK_ENST00000341991.3_IN_FRAME_INS_p.445_446insE/NADK_ENST00000342348.5_IN_FRAME_INS_p.413_414insE|||||||||||||||||||||||||45|breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_salivary_gland(1)|||||||CH471183|||HGNC:29831|NAD_%20_kinase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13052||1p36.33|2014-11-19|||BC001709|2.7.1.23|65220|ENSG00000008130|11594753|NM_023018|||CCDS30565_%2C__%20_CCDS55561_%2C__%20_CCDS55562|OTTHUMG00000000942|65220|611616|NM_001198993|O95544|ENSG00000008130|uc001aid.5|NADK_HUMAN||A6NNN3_%7C_A8K296_%7C_B7Z434_%7C_F5GXR5_%7C_Q5QPS4_%7C_Q9H2P2_%7C_Q9H931|O95544|ATP_%20_metabolic_%20_process_%20_(GO:0046034)_%7C_NAD_%20_metabolic_%20_process_%20_(GO:0019674)_%7C_NADP_%20_biosynthetic_%20_process_%20_(GO:0006741)_%7C_phosphorylation_%20_(GO:0016310)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_vitamin_%20_metabolic_%20_process_%20_(GO:0006766)_%7C_water-soluble_%20_vitamin_%20_metabolic_%20_process_%20_(GO:0006767)|cytosol_%20_(GO:0005829)|ATP_%20_binding_%20_(GO:0005524)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_NAD+_%20_kinase_%20_activity_%20_(GO:0003951)|_%7C__%7C_|_%7C__%7C_|_%7C__%7C_|true_%7C_true_%7C_true|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|NADK:65220_%7C_NADK:65220_%7C_NADK:65220|false_%7C_true_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|true_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|150880809_%7C_71578334_%7C_765479702|1684347_%7C_1684349_%7C_1684350|false_%7C_false_%7C_false|false_%7C_false_%7C_false|0_%7C_0_%7C_0|false_%7C_true_%7C_false|0_%7C_0_%7C_0|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|DIV_%7C_DIV_%7C_DIV|true_%7C_false_%7C_false|0x05000000000504000e000204_%7C_0x050100000005000102000200_%7C_0x050000000005000002000200|1_%7C_1_%7C_1|false_%7C_false_%7C_false|134_%7C_130_%7C_144|rs150880809_%7C_rs71578334_%7C_rs765479702|_%7C__%7C_] +1 1850627 . CAGCGGCAGG C 711.12 PASS FUNCOTATION=[TMEM52|hg19|chr1|1850628|1850636|IN_FRAME_DEL||DEL|AGCGGCAGG|AGCGGCAGG|-|g.chr1:1850628_1850636delAGCGGCAGG|ENST00000310991.3|-|1|86_94|c.69_77delCCTGCCGCT|c.(67-78)ctcctgccgctg>ctg|p.LPL24del|0.7481662591687042|CACCTGCGGCAGCGGCAGGAGCGGCAGGA|TMEM52_ENST00000378602.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AY358544|NM_178545.3|NP_848640.1|HGNC:27916|transmembrane_%20_protein_%20_52|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.33|2014-11-19|||AJ278736||339456|ENSG00000178821||NM_178545|||CCDS35|OTTHUMG00000000944|339456||NM_178545|Q8NDY8|ENSG00000178821|uc001aij.3|TMM52_HUMAN||Q4VXS6_%7C_Q6UX25|Q8NDY8||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.641_%2C_0.359|false|false|1||false|true|true|TMEM52:339456|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|575852588|1850628|false|false|0|false|0|false||false|false|false|DIV|true|0x050000000005170026000200|1|false|142|rs575852588|] +1 2258590 rs149761185 A AACAC 660.88 PASS FUNCOTATION=[MORN1|hg19|chr1|2258590|2258591|INTRON||INS|-|-|ACAC|g.chr1:2258590_2258591insACAC|ENST00000378531.3|-|||c.e13+3008T>GTGTT|||0.4275|AGACACAGAAACAGAAACAC|AL589739.1_ENST00000600779.1_FRAME_SHIFT_INS_p.R5fs/RP4-713A8.1_ENST00000607720.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089||||_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.2077_%2C_0.7921_%7C_0.2077_%2C_0.7921|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|MORN1:79906_%7C_MORN1:79906|false_%7C_false|false_%7C_false|true_%7C_true|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|149761185_%7C_61135926|2258590_%7C_2258593|false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05000008000517002e000200_%7C_0x050000080005000002000200|1_%7C_1|false_%7C_false|134_%7C_129|rs149761185_%7C_rs61135926|_%7C_] +1 2258626 rs144331124 CAG C 138.25 PASS FUNCOTATION=[MORN1|hg19|chr1|2258627|2258628|INTRON||DEL|AG|AG|-|g.chr1:2258627_2258628delAG|ENST00000378531.3|-|||c.e13+3044CTG>G|||0.39800995024875624|ACAGAGACACAGAGACACAGAA|AL589739.1_ENST00000600779.1_FRAME_SHIFT_DEL_p.R17fs/RP4-713A8.1_ENST00000607720.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089|||||||true|false|0.8407_%2C_0.1593|false|false|1||false|true|false|MORN1:79906|false|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|144331124|2258627|false|false|0|false|0|false||false|false|false|DIV|true|0x05000008000515003e000200|1|false|134|rs144331124|] +1 2258946 rs59142249 C CA 326.29 PASS FUNCOTATION=[MORN1|hg19|chr1|2258946|2258947|INTRON||INS|-|-|A|g.chr1:2258946_2258947insA|ENST00000378531.3|-|||c.e13+3364G>TG|||0.5075|AAACAAACACAGAGACACAG|AL589739.1_ENST00000600779.1_FRAME_SHIFT_INS_p.R123fs/RP4-713A8.1_ENST00000607720.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||98|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(8)|||||||BC021704|NM_024848.1|NP_079124.1|HGNC:25852|MORN_%20_repeat_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13941||1p36.32|2016-10-05|||AK024003||79906|ENSG00000116151|12477932|NM_024848|||CCDS40_%2C__%20_CCDS72688|OTTHUMG00000001402|79906||NM_001301060|Q5T089|ENSG00000116151|uc001ajb.2|MORN1_HUMAN||A6NKZ6_%7C_Q8WW30_%7C_Q9H852|Q5T089||||_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|MORN1:79906_%7C_MORN1:79906|false_%7C_false|false_%7C_false|true_%7C_true|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|59142249_%7C_397940423|2258946_%7C_2258947|false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|0_%7C_0|false_%7C_false|0.755924_%2C_0.244076_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05000008000507001e000200_%7C_0x050000080005000002000200|1_%7C_1|false_%7C_false|138_%7C_138|rs59142249_%7C_rs397940423|_%7C_] +1 2938407 rs4013154 CAGA C 648.25 PASS FUNCOTATION=[ACTRT2|hg19|chr1|2938408|2938410|IN_FRAME_DEL||DEL|AGA|AGA|-|g.chr1:2938408_2938410delAGA|ENST00000378404.2|+|1|362_364|c.158_160delAGA|c.(157-162)cagaag>cag|p.K54del|0.5905707196029777|GAGGCCAACCAGAAGAAGTACTT||||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471248|NM_080431.4|NP_536356.3|HGNC:24026|actin_%20_related_%20_protein_%20_T2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||Arp-T2_%2C__%20_ARPM2_%2C__%20_FLJ25424||1p36.32|2016-10-05||2015-12-01|AF440740_%2C__%20_AB057364||140625|ENSG00000169717|11750065_%2C__%20_12243744|NM_080431|1436|Actin_%20_related_%20_proteins|CCDS45|OTTHUMG00000000562|140625|608535|NM_080431|Q8TDY3|ENSG00000169717|uc001ajz.4|ACTT2_HUMAN||B1AN52_%7C_Q8NHS6_%7C_Q8TDG1|Q8TDY3||cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)|||||true|false|0.8876_%2C_0.1124|false|false|1||false|true|false|ACTRT2:140625|false|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4013154|2938408|true|false|0|false|0|false|0.890652_%2C_0.109348|false|false|false|DIV|true|0x05000000000515003e000200|1|false|108|rs4013154|] +1 6509021 . GCCACCGCCGCCC G 897.25 PASS FUNCOTATION=[ESPN|hg19|chr1|6509022|6509033|IN_FRAME_DEL||DEL|CCACCGCCGCCC|CCACCGCCGCCC|-|g.chr1:6509022_6509033delCCACCGCCGCCC|ENST00000377828.1|+|8|1953_1964|c.1786_1797delCCACCGCCGCCC|c.(1786-1797)ccaccgccgcccdel|p.PPPP596del|0.7718446601941747|CAGGGAGCTGCCACCGCCGCCCCCACCGCCGC|ESPN_ENST00000461727.1_IN_FRAME_DEL_p.PPPP30del/ESPN_ENST00000416731.1_IN_FRAME_DEL_p.PPPP30del/ESPN_ENST00000475228.1_INTRON/RP1-202O8.2_ENST00000419034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(12)_%7C_pancreas(22)|||||||CH471130|NM_031475.2|NP_113663.2|HGNC:13281|espin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|DFNB36|"deafness_%2C__%20_autosomal_%20_recessive_%20_36"|||1p36.31|2014-11-19|||AF134401||83715|ENSG00000187017|10975527_%2C__%20_15286153|NM_031475|1152_%7C_403|Deafness_%20_associated_%20_genes_%7C_Ankyrin_%20_repeat_%20_domain_%20_containing|CCDS70|OTTHUMG00000000753|83715|606351|NM_031475|B1AK53|ENSG00000187017|uc001amy.3|ESPN_HUMAN||Q6XYB2_%7C_Q9H0A2_%7C_Q9Y329|B1AK53|locomotory_%20_behavior_%20_(GO:0007626)_%7C_negative_%20_regulation_%20_of_%20_cytoskeleton_%20_organization_%20_(GO:0051494)_%7C_parallel_%20_actin_%20_filament_%20_bundle_%20_assembly_%20_(GO:0030046)_%7C_positive_%20_regulation_%20_of_%20_filopodium_%20_assembly_%20_(GO:0051491)_%7C_sensory_%20_perception_%20_of_%20_sound_%20_(GO:0007605)|brush_%20_border_%20_(GO:0005903)_%7C_cytoplasm_%20_(GO:0005737)_%7C_filamentous_%20_actin_%20_(GO:0031941)_%7C_microvillus_%20_(GO:0005902)_%7C_stereocilium_%20_bundle_%20_tip_%20_(GO:0032426)|actin_%20_filament_%20_binding_%20_(GO:0051015)_%7C_SH3_%20_domain_%20_binding_%20_(GO:0017124)||||true|false|0.9984_%2C_0.001597|false|false|0||false|false|false|ESPN:83715|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|548962140|6509022|false|false|0|false|0|false|0.997047_%2C_0.0029535|false|false|false|DIV|true|0x050000000005040026000200|1|false|142|rs548962140|] +1 7913430 rs228648 G A 1998.91 PASS FUNCOTATION=[UTS2|hg19|chr1|7913430|7913430|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr1:7913430G>A|ENST00000377516.2|-|1|||||0.3566084788029925|GCAAAGAGACGTGGATTTATG|UTS2_ENST00000054668.5_MISSENSE_p.T21M/UTS2_ENST00000361696.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Z98884|||HGNC:12636|urotensin_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||UII_%2C__%20_U-II_%2C__%20_UCN2_%2C__%20_PRO1068|"prepro_%20_U-II"|1p36.23|2016-10-05|||AF104118||10911|ENSG00000049247|9861051_%2C__%20_10499587|NM_006786|542|Endogenous_%20_ligands|CCDS90_%2C__%20_CCDS91|OTTHUMG00000001218|10911|604097|NM_006786|O95399|ENSG00000049247|uc001aos.4|UTS2_HUMAN||Q5H8X7_%7C_Q6UXF6_%7C_Q9UKP7|O95399|muscle_%20_contraction_%20_(GO:0006936)_%7C_negative_%20_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0045776)_%7C_negative_%20_regulation_%20_of_%20_glomerular_%20_filtration_%20_(GO:0003105)_%7C_negative_%20_regulation_%20_of_%20_heart_%20_rate_%20_(GO:0010459)_%7C_negative_%20_regulation_%20_of_%20_insulin_%20_secretion_%20_(GO:0046676)_%7C_negative_%20_regulation_%20_of_%20_renal_%20_sodium_%20_excretion_%20_(GO:0035814)_%7C_negative_%20_regulation_%20_of_%20_urine_%20_volume_%20_(GO:0035811)_%7C_positive_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0045766)_%7C_positive_%20_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0045777)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045597)_%7C_positive_%20_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_REM_%20_sleep_%20_(GO:0046005)_%7C_positive_%20_regulation_%20_of_%20_circadian_%20_sleep/wake_%20_cycle_%2C__%20_wakefulness_%20_(GO:0010841)_%7C_positive_%20_regulation_%20_of_%20_collagen_%20_biosynthetic_%20_process_%20_(GO:0032967)_%7C_positive_%20_regulation_%20_of_%20_cytosolic_%20_calcium_%20_ion_%20_concentration_%20_(GO:0007204)_%7C_positive_%20_regulation_%20_of_%20_fibroblast_%20_migration_%20_(GO:0010763)_%7C_positive_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048146)_%7C_positive_%20_regulation_%20_of_%20_heart_%20_rate_%20_(GO:0010460)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_transmission_%2C__%20_cholinergic_%20_(GO:0032224)_%7C_positive_%20_regulation_%20_of_%20_vasodilation_%20_(GO:0045909)_%7C_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_response_%20_to_%20_testosterone_%20_(GO:0033574)_%7C_synaptic_%20_transmission_%20_(GO:0007268)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)|hormone_%20_activity_%20_(GO:0005179)_%7C_receptor_%20_binding_%20_(GO:0005102)||||true|false|0.5216_%2C_0.4784|false|false|1||false|true|true|UTS2:10911|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|true|true|228648|7913430|false|false|0|true|0|false|0.476578_%2C_0.523422|false|false|false|SNV|true|0x050128020a0517053f000101|1|false|79|rs228648|] +1 11593793 rs113116961 T TGCACACACGCAC 4110.93 PASS FUNCOTATION=[PTCHD2|hg19|chr1|11593793|11593794|INTRON||INS|-|-|GCACACACGCAC|g.chr1:11593793_11593794insGCACACACGCAC|ENST00000294484.6|+|||c.e18-645T>TGCACACACGCAC|||0.5625|AGACACGCATGCACACACAC|PTCHD2_ENST00000304391.6_FIVE_PRIME_UTR/PTCHD2_ENST00000389575.3_INTRON|||||||||||||||||||||||||170|biliary_tract(2)_%7C_breast(1)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_lung(4)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(5)|||||||AL590989|NM_020780.1|NP_065831.1||||||||||||||||||||||||||||||PTHD2_HUMAN||Q5VTU9_%7C_Q9UJD6|Q9P2K9|cholesterol_%20_homeostasis_%20_(GO:0042632)_%7C_regulation_%20_of_%20_lipid_%20_transport_%20_(GO:0032368)_%7C_smoothened_%20_signaling_%20_pathway_%20_(GO:0007224)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nuclear_%20_membrane_%20_(GO:0031965)|hedgehog_%20_receptor_%20_activity_%20_(GO:0008158)||||true|false|0.2478_%2C_0.3878|false|false|1||false|false|false|DISP3:57540_%7C_PTCHD2:57540|true|false|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|113116961|11593793|false|false|0|true|0|false||false|false|false|DIV|true|0x05010008000514012e000200|1|false|132|rs113116961|] +1 11710779 rs148874459 C CGCG 492.29 PASS FUNCOTATION=[FBXO2|hg19|chr1|11710779|11710780|IN_FRAME_INS||INS|-|-|GCG|g.chr1:11710779_11710780insGCG|ENST00000354287.4|-|2|477|c.134_135insCGC|c.(133-135)gcg>gcCGCg|p.45_46insA|0.7275|GTCCAGGTACGCGGCGGCGG|FBXO44_ENST00000251546.4_FIVE_PRIME_FLANK/FBXO44_ENST00000251547.5_FIVE_PRIME_FLANK/FBXO44_ENST00000376760.1_FIVE_PRIME_FLANK/FBXO44_ENST00000376762.4_FIVE_PRIME_FLANK/FBXO44_ENST00000376768.1_FIVE_PRIME_FLANK/FBXO44_ENST00000376770.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||271|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CR542110|NM_012168.5|NP_036300.2|HGNC:13581|F-box_%20_protein_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|OCP1|"F-box_%20_only_%20_protein_%20_2"_%2C__%20_"organ_%20_of_%20_Corti_%20_protein_%20_1"|FBX2_%2C__%20_Nfb42_%2C__%20_Fbs1_%2C__%20_Fbg1||1p36.22|2016-10-05||2004-06-15|AF174594||26232|ENSG00000116661|10531035_%2C__%20_10531037|NM_012168|560|F-boxes_%20_other|CCDS130|OTTHUMG00000002072|26232|607112|NM_012168|Q9UK22|ENSG00000116661|uc001asj.4|FBX2_HUMAN||B2R7K7_%7C_Q5TGY0_%7C_Q6FGJ7_%7C_Q8TB29_%7C_Q9UKC6|Q9UK22|cellular_%20_protein_%20_modification_%20_process_%20_(GO:0006464)_%7C_ER-associated_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0030433)_%7C_glycoprotein_%20_catabolic_%20_process_%20_(GO:0006516)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)_%7C_proteolysis_%20_(GO:0006508)_%7C_regulation_%20_of_%20_protein_%20_ubiquitination_%20_(GO:0031396)_%7C_SCF-dependent_%20_proteasomal_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0031146)|cytosol_%20_(GO:0005829)_%7C_dendritic_%20_spine_%20_(GO:0043197)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_SCF_%20_ubiquitin_%20_ligase_%20_complex_%20_(GO:0019005)|beta-amyloid_%20_binding_%20_(GO:0001540)_%7C_carbohydrate_%20_binding_%20_(GO:0030246)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.6534_%2C_0.3103_%7C_0.6534_%2C_0.3103|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|false_%7C_true|false_%7C_true|FBXO2:26232_%7C_FBXO2:26232|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|148874459_%7C_538764329|11710779_%7C_11710782|false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_true|0x05000000000504000e000200_%7C_0x050000000005170024000200|1_%7C_1|false_%7C_false|134_%7C_142|rs148874459_%7C_rs538764329|_%7C_] +1 11844520 rs41275466 C T 492.25 PASS FUNCOTATION=[C1orf167|hg19|chr1|11844520|11844520|NONSENSE||SNP|C|C|T|g.chr1:11844520C>T|ENST00000433342.1|+|15|3367|c.3367C>T|c.(3367-3369)Cag>Tag|p.Q1123*|0.6733167082294265|CCATGAGGCCCAGCAGCAGGC|RP11-56N19.5_ENST00000376620.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||AL953897|||HGNC:25262|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_167|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||DKFZp434E1410_%2C__%20_RP11-56N19.2||1p36.22|2016-09-30|||AL834308||284498|ENSG00000215910|12370778|||||OTTHUMG00000002228|284498||NM_001010881|Q5SNV9|ENSG00000215910|uc057chg.1|CA167_HUMAN||Q8NDA9_%7C_Q8NDF3|Q5SNV9|||||||true|false|0.988_%2C_0.01198|false|false|1||false|false|false|C1orf167:284498|false|false|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|41275466|11844520|false|false|0|false|0|false|0.984683_%2C_0.015317|false|false|false|SNV|true|0x050000000605140036000100|1|false|127|rs41275466|] +1 11906068 rs5065 A G 569.25 PASS FUNCOTATION=[NPPA|hg19|chr1|11906068|11906068|NONSTOP||SNP|A|A|G|g.chr1:11906068A>G|ENST00000376480.3|-|3|553|c.454T>C|c.(454-456)Tga>Cga|p.*152R|0.4937655860349127|TGTTATCTTCAGTACTGCAAA|NPPA_ENST00000376476.1_NONSTOP_p.*102R/NPPA-AS1_ENST00000446542.1_RNA/NPPA-AS1_ENST00000400892.2_RNA|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X02558|NM_006172.3|NP_006163.1|HGNC:7939|natriuretic_%20_peptide_%20_A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ANP_%2C__%20_PND|"natriuretic_%20_peptide_%20_precursor_%20_A"|||1p36.22|2017-03-24||2010-11-09|BC005893||4878|ENSG00000175206||NM_006172|542|Endogenous_%20_ligands|CCDS139|OTTHUMG00000002388|4878|108780|NM_006172|P01160|ENSG00000175206|uc001ati.4|ANF_HUMAN||Q13766_%7C_Q5JZE1|P01160|cardiac_%20_muscle_%20_hypertrophy_%20_in_%20_response_%20_to_%20_stress_%20_(GO:0014898)_%7C_cellular_%20_response_%20_to_%20_mechanical_%20_stimulus_%20_(GO:0071260)_%7C_cGMP_%20_biosynthetic_%20_process_%20_(GO:0006182)_%7C_female_%20_pregnancy_%20_(GO:0007565)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_systemic_%20_arterial_%20_blood_%20_pressure_%20_(GO:0003085)_%7C_receptor_%20_guanylyl_%20_cyclase_%20_signaling_%20_pathway_%20_(GO:0007168)_%7C_regulation_%20_of_%20_blood_%20_pressure_%20_(GO:0008217)_%7C_regulation_%20_of_%20_blood_%20_vessel_%20_size_%20_(GO:0050880)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_response_%20_to_%20_insulin_%20_(GO:0032868)_%7C_transcription_%20_initiation_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006367)|extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_mast_%20_cell_%20_granule_%20_(GO:0042629)_%7C_nucleus_%20_(GO:0005634)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)|receptor_%20_binding_%20_(GO:0005102)||||true|false|0.8209_%2C_0.1791|false|false|1||false|true|false|NPPA:4878_%7C_NPPA-AS1:100379251|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|5065|11906068|false|false|0|true|0|false|0.737688_%2C_0.262312|true|false|false|SNV|true|0x05013808020515053f000100|1|false|52|rs5065|] +1 12980232 rs201674075 G A 447.12 PASS FUNCOTATION=[PRAMEF7|hg19|chr1|12980232|12980232|SILENT||SNP|G|G|A|g.chr1:12980232G>A|ENST00000361079.2|+|4|1507|c.1424G>A|c.(1423-1425)tGa>tAa|p.*475*|0.5411471321695761|TGCCTCTGTTGAATGCCTGCC|RNU6-1072P_ENST00000384703.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||98|lung(98)|||||||BC140755|||HGNC:28415|PRAME_%20_family_%20_member_%20_7|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.21|2015-09-10|||||441871|ENSG00000204510||NM_001012277|686|PRAME_%20_family|CCDS30593|OTTHUMG00000001982|441871||NM_001012277|Q5VXH5|ENSG00000204510|uc057ckj.1|PRAM7_HUMAN||B9EIP0|Q5VXH5|negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_differentiation_%20_(GO:0045596)_%7C_negative_%20_regulation_%20_of_%20_retinoic_%20_acid_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048387)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)||||||true|false||false|false|||false|false|false|PRAMEF7:441871|true|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|9328937|12980232|false|false|0|true|0|true||false|false|false|SNV|true|0x050100000305040516000100|1|false|119|rs9328937|] +1 14106394 rs2308040 A ACTC 1278.16 PASS FUNCOTATION=[PRDM2|hg19|chr1|14106394|14106395|IN_FRAME_INS||INS|-|-|CTC|g.chr1:14106394_14106395insCTC|ENST00000235372.7|+|8|2960|c.2104_2105insCTC|c.(2104-2106)act>aCTCct|p.702_703insP|0.4875|GATAAACTAACTCCTGCAGG|PRDM2_ENST00000413440.1_IN_FRAME_INS_p.501_502insP/PRDM2_ENST00000343137.4_IN_FRAME_INS_p.501_502insP/PRDM2_ENST00000376048.5_INTRON/PRDM2_ENST00000503842.1_INTRON/PRDM2_ENST00000505823.1_INTRON/PRDM2_ENST00000311066.5_IN_FRAME_INS_p.702_703insP|||||||||||||||||||||||||131|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_oesophagus(4)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_soft_tissue(11)_%7C_upper_aerodigestive_tract(1)|||||||U23736|NM_012231.4|NP_036363.2|HGNC:9347|PR/SET_%20_domain_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"PR_%20_domain_%20_containing_%20_2_%2C__%20_with_%20_ZNF_%20_domain"_%2C__%20_"PR_%20_domain_%20_2"|RIZ_%2C__%20_RIZ1_%2C__%20_RIZ2_%2C__%20_KMT8_%2C__%20_MTB-ZF_%2C__%20_HUMHOXY1_%2C__%20_KMT8A|"retinoblastoma_%20_protein-binding_%20_zinc_%20_finger_%20_protein"_%2C__%20_"retinoblastoma_%20_protein-interacting_%20_zinc_%20_finger_%20_protein"_%2C__%20_"MTE-binding_%20_protein"_%2C__%20_"zinc-finger_%20_DNA-binding_%20_protein"_%2C__%20_"GATA-3_%20_binding_%20_protein_%20_G3B"|1p36.21|2016-11-03||2016-07-18|U17838||7799|ENSG00000116731|7538672|NM_012231|487_%7C_1197|Lysine_%20_methyltransferases_%7C_PR/SET_%20_domain_%20_family|CCDS150_%2C__%20_CCDS151_%2C__%20_CCDS30603_%2C__%20_CCDS44061|OTTHUMG00000007917|7799|601196|NM_001007257|Q13029|ENSG00000116731|uc001avi.3|PRDM2_HUMAN||B1AJZ4_%7C_B5MC68_%7C_Q13149_%7C_Q14550_%7C_Q5THJ1_%7C_Q5VUL9|Q13029|regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_histone-lysine_%20_N-methyltransferase_%20_activity_%20_(GO:0018024)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|PRDM2:7799_%7C_PRDM2:7799|true_%7C_true|false_%7C_false|true_%7C_true|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|2308040_%7C_59028030|14106394_%7C_14106399|true_%7C_false|false_%7C_false|0_%7C_0|true_%7C_true|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05010008000507011e000200_%7C_0x050100080005000102000200|1_%7C_1|false_%7C_false|100_%7C_138|rs2308040_%7C_rs59028030|_%7C_] +1 15714854 . C CTCCCTCCCTCCCTCCCTCCT 171.30 PASS FUNCOTATION=[FHAD1|hg19|chr1|15714854|15714855|INTRON||INS|-|-|TCCCTCCCTCCCTCCCTCCT|g.chr1:15714854_15714855insTCCCTCCCTCCCTCCCTCCT|ENST00000375998.4|+|||c.e29+6165C>CTCCCTCCCTCCCTCCCTCCT|||0.6025|CTGCCCCACCTGCCTGCAGT|FHAD1_ENST00000358897.4_INTRON/FHAD1_ENST00000417793.1_INTRON/FHAD1_ENST00000375999.3_NONSTOP_p.A1448fs/FHAD1_ENST00000314740.8_INTRON/FHAD1_ENST00000471347.1_INTRON|||||||||||||||||||||||||69|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||AL391094|||HGNC:29408|forkhead_%20_associated_%20_phosphopeptide_%20_binding_%20_domain_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"forkhead-associated_%20_(FHA)_%20_phosphopeptide_%20_binding_%20_domain_%20_1"|KIAA1937||1p36.21|2016-06-21||2016-06-21|AK093300||114827|ENSG00000142621|11572484|NM_052929||||OTTHUMG00000002088|114827||NM_052929|B1AJZ9|ENSG00000142621|uc001awb.2|FHAD1_HUMAN||Q0P6F5_%7C_Q8N8D3_%7C_Q8N9T6_%7C_Q8NA05|B1AJZ9|||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 15820307 rs2234723 A AC 439.29 PASS FUNCOTATION=[CASP9|hg19|chr1|15820307|15820308|INTRON||INS|-|-|C|g.chr1:15820307_15820308insC|ENST00000333868.5|-|||c.e8-80T>GT|||0.575|GCCCTGCTCACCCCAAATCC|CASP9_ENST00000546424.1_FRAME_SHIFT_INS_p.V413fs/CASP9_ENST00000348549.5_INTRON/CASP9_ENST00000375890.4_INTRON|||||||||||||||||||||||||703|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||U60521|||HGNC:1511|caspase_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"caspase_%20_9_%2C__%20_apoptosis-related_%20_cysteine_%20_protease"_%2C__%20_"caspase_%20_9_%2C__%20_apoptosis-related_%20_cysteine_%20_peptidase"|MCH6_%2C__%20_ICE-LAP6_%2C__%20_APAF-3_%2C__%20_PPP1R56|"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_56"|1p36.21|2016-04-25||2015-11-12|U60521|3.4.22.62|842|ENSG00000132906|8663294_%2C__%20_9390557|NM_032996|959_%7C_694_%7C_468_%7C_1341|Caspase_%20_recruitment_%20_domain_%20_containing_%7C_Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits_%7C_Caspases_%7C_Apoptosome|CCDS158_%2C__%20_CCDS159_%2C__%20_CCDS59995|OTTHUMG00000002256|842|602234|NM_001229|P55211|ENSG00000132906|uc001awn.5|CASP9_HUMAN||B4E1A3_%7C_O95348_%7C_Q53Y70_%7C_Q5JRU9_%7C_Q5UGI1_%7C_Q92852_%7C_Q9BQ62_%7C_Q9UEQ3_%7C_Q9UIJ8|P55211|activation_%20_of_%20_cysteine-type_%20_endopeptidase_%20_activity_%20_involved_%20_in_%20_apoptotic_%20_process_%20_by_%20_cytochrome_%20_c_%20_(GO:0008635)_%7C_aging_%20_(GO:0007568)_%7C_apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_dexamethasone_%20_stimulus_%20_(GO:0071549)_%7C_cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_cellular_%20_response_%20_to_%20_UV_%20_(GO:0034644)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_glial_%20_cell_%20_apoptotic_%20_process_%20_(GO:0034349)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097193)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_(GO:0008630)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_platelet_%20_formation_%20_(GO:0030220)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0042981)_%7C_regulation_%20_of_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:2001020)_%7C_response_%20_to_%20_antibiotic_%20_(GO:0046677)_%7C_response_%20_to_%20_cobalt_%20_ion_%20_(GO:0032025)_%7C_response_%20_to_%20_estradiol_%20_(GO:0032355)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)_%7C_signal_%20_transduction_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_(GO:0042770)|apoptosome_%20_(GO:0043293)_%7C_cytosol_%20_(GO:0005829)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|cysteine-type_%20_endopeptidase_%20_activity_%20_(GO:0004197)_%7C_enzyme_%20_activator_%20_activity_%20_(GO:0008047)_%7C_peptidase_%20_activity_%20_(GO:0008233)_%7C_protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_SH3_%20_domain_%20_binding_%20_(GO:0017124)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.7642_%2C_0.2358_%7C_0.7642_%2C_0.2358|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|CASP9:842_%7C_CASP9:842|true_%7C_false|false_%7C_false|true_%7C_true|true_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_true|2234723_%7C_397776921|15820307_%7C_15820311|true_%7C_false|false_%7C_false|0_%7C_0|true_%7C_false|0_%7C_0|false_%7C_false|0.700426_%2C_0.299574_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05010008120517013e000201_%7C_0x050000081205000002000200|1_%7C_1|false_%7C_false|98_%7C_138|rs2234723_%7C_rs397776921|_%7C_] +1 16262475 . CTG C 13.26 PASS FUNCOTATION=[SPEN|hg19|chr1|16262476|16262477|FRAME_SHIFT_DEL||DEL|TG|TG|-|g.chr1:16262476_16262477delTG|ENST00000375759.3|+|11|9944_9945|c.9741_9742delTG|c.(9739-9744)cctgccfs|p.A3248fs|0.6393034825870647|CCCCCACCCCTGCCCCCGTCCC||||||||||||||||||||||||||1370|NS(200)_%7C_biliary_tract(2)_%7C_breast(210)_%7C_central_nervous_system(44)_%7C_endometrium(2)_%7C_haematopoietic_and_lymphoid_tissue(302)_%7C_kidney(141)_%7C_large_intestine(37)_%7C_lung(100)_%7C_oesophagus(13)_%7C_ovary(2)_%7C_pancreas(22)_%7C_prostate(26)_%7C_salivary_gland(212)_%7C_skin(1)_%7C_soft_tissue(8)_%7C_stomach(47)_%7C_upper_aerodigestive_tract(1)|||||||AL450998|NM_015001.2|NP_055816.2|HGNC:17575|spen_%20_family_%20_transcriptional_%20_repressor|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"SPEN_%20_homolog_%2C__%20_transcriptional_%20_regulator_%20_(Drosophila)"_%2C__%20_"spen_%20_homolog_%2C__%20_transcriptional_%20_regulator_%20_(Drosophila)"|KIAA0929_%2C__%20_MINT_%2C__%20_SHARP_%2C__%20_RBM15C||1p36.21-p36.13|2017-06-08||2013-10-17|||23013|ENSG00000065526|10451362_%2C__%20_11331609|NM_015001|725|RNA_%20_binding_%20_motif_%20_containing|CCDS164|OTTHUMG00000009376|23013|613484|NM_015001|Q96T58|ENSG00000065526|uc001axk.2|MINT_HUMAN||Q9H9A8_%7C_Q9NWH5_%7C_Q9UQ01_%7C_Q9Y556|Q96T58|negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_Notch_%20_signaling_%20_pathway_%20_(GO:0007219)_%7C_positive_%20_regulation_%20_of_%20_neurogenesis_%20_(GO:0050769)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_viral_%20_process_%20_(GO:0016032)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleus_%20_(GO:0005634)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)|nucleotide_%20_binding_%20_(GO:0000166)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_RNA_%20_polymerase_%20_II_%20_transcription_%20_factor_%20_binding_%20_(GO:0001085)_%7C_RNA_%20_polymerase_%20_II_%20_transcription_%20_factor_%20_binding_%20_transcription_%20_factor_%20_activity_%20_involved_%20_in_%20_negative_%20_regulation_%20_of_%20_transcription_%20_(GO:0001191)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_single-stranded_%20_DNA_%20_binding_%20_(GO:0003697)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)||||true|false||false|false|||false|false|false|SPEN:23013|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|765451626|16262476|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040002000200|1|false|144|rs765451626|] +1 16865770 rs200788146 CT C 439.48 PASS FUNCOTATION=[AL355149.2|hg19|chr1|16865771|16865771|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:16865771delT|ENST00000601199.1|+|1|210|c.211delT|c.(211-213)tttfs|p.W72fs|0.5635910224438903|GGAGGGCACCTTTTGGACAGA||||||||||||||||||||||||||||||||||AL355149|||||||||||||||||||||||||||||||||||||||_%7C__%7C_|_%7C__%7C_|_%7C__%7C_|true_%7C_true_%7C_true|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|FAM231B:100133301_%7C_FAM231B:100133301_%7C_FAM231B:100133301|true_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|true_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|true_%7C_true_%7C_true|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|true_%7C_true_%7C_true|71574191_%7C_67841213_%7C_57681900|16865771_%7C_16865773_%7C_16865774|false_%7C_true_%7C_false|false_%7C_false_%7C_false|0_%7C_0_%7C_0|true_%7C_false_%7C_false|0_%7C_0_%7C_1|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|DIV_%7C_DIV_%7C_DIV|false_%7C_false_%7C_false|0x05010000120500011e000200_%7C_0x050000001205000002000200_%7C_0x050000001205000002000240|1_%7C_1_%7C_1|false_%7C_false_%7C_false|130_%7C_131_%7C_129|rs71574191_%7C_rs67841213_%7C_rs57681900|_%7C__%7C_] +1 19408294 rs67232976 G GC 2309.93 PASS FUNCOTATION=[UBR4|hg19|chr1|19408294|19408295|INTRON||INS|-|-|C|g.chr1:19408294_19408295insC|ENST00000375254.3|-|||c.e103+227C>GC|||0.5125|TCTTCCCTGGCCCCATGTCT|UBR4_ENST00000375225.3_FRAME_SHIFT_INS_p.P3fs/UBR4_ENST00000375224.1_INTRON/UBR4_ENST00000375267.2_INTRON/UBR4_ENST00000375217.2_INTRON/UBR4_ENST00000375226.2_INTRON/UBR4_ENST00000543981.1_INTRON/UBR4_ENST00000429347.2_INTRON|||||||||||||||||||||||||689|biliary_tract(2)_%7C_breast(51)_%7C_central_nervous_system(44)_%7C_kidney(488)_%7C_large_intestine(37)_%7C_lung(2)_%7C_pancreas(22)_%7C_skin(42)_%7C_soft_tissue(1)|||||||BC096758|NM_020765.2|NP_065816.2|HGNC:30313|ubiquitin_%20_protein_%20_ligase_%20_E3_%20_component_%20_n-recognin_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZUBR1|"zinc_%20_finger_%2C__%20_UBR1_%20_type_%20_1"|KIAA1307_%2C__%20_KIAA0462_%2C__%20_RBAF600||1p36.13|2015-08-24|2007-06-19|2007-06-19|AF348492||23352|ENSG00000127481|14702039_%2C__%20_10718198_%2C__%20_16055722|NM_020765|785|Ubiquitin_%20_protein_%20_ligase_%20_E3_%20_component_%20_n-recognins|CCDS189|OTTHUMG00000002498|23352|609890|NM_020765|Q5T4S7|ENSG00000127481|uc001bbi.4|UBR4_HUMAN||A8MPT2_%7C_A8MQ33_%7C_A8MQB1_%7C_O60646_%7C_O75050_%7C_Q4QRK5_%7C_Q5T4S8_%7C_Q5T4S9_%7C_Q5TBN8_%7C_Q5TBP2_%7C_Q6DKH8_%7C_Q6P4A4_%7C_Q7L8P7_%7C_Q8IXJ4_%7C_Q8TDN5_%7C_Q8WV67_%7C_Q9HA46_%7C_Q9P2N9_%7C_Q9UG82|Q5T4S7|protein_%20_ubiquitination_%20_involved_%20_in_%20_ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0042787)_%7C_viral_%20_process_%20_(GO:0016032)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_membrane_%20_(GO:0016020)_%7C_nucleus_%20_(GO:0005634)|ligase_%20_activity_%20_(GO:0016874)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.6306_%2C_0.3694|false|false|1||false|true|true|UBR4:23352|true|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|67232976|19408294|false|false|0|true|0|false|0.627653_%2C_0.372347|false|false|false|DIV|true|0x05010008000517013e000200|1|false|137|rs67232976|] +1 20501582 rs12139100 G A 275.25 PASS FUNCOTATION=[PLA2G2C|hg19|chr1|20501582|20501582|NONSENSE||SNP|G|G|A|g.chr1:20501582G>A|ENST00000429261.2|-|2|158|c.97C>T|c.(97-99)Cga>Tga|p.R33*|0.49875311720698257|AAGGCACTTCGCCCCGTGATG|PLA2G2C_ENST00000247992.5_NONSENSE_p.R36*/PLA2G2C_ENST00000495760.2_INTRON|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||Z98257|||HGNC:9032|phospholipase_%20_A2_%20_group_%20_IIC|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"phospholipase_%20_A2_%2C__%20_group_%20_IIC_%20_(possible_%20_pseudogene)"_%2C__%20_"phospholipase_%20_A2_%2C__%20_group_%20_IIC"|||1p36.12|2015-11-18||2015-11-18|||391013|ENSG00000187980|8838795|NM_001105572|467|Phospholipases||OTTHUMG00000002705|391013||NM_001316722|Q5R387|ENSG00000187980|uc009vpq.1|PA2GC_HUMAN||Q7M4M6|Q5R387|lipid_%20_catabolic_%20_process_%20_(GO:0016042)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)|extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_phospholipase_%20_A2_%20_activity_%20_(GO:0004623)||||true|false|0.7598_%2C_0.2402|false|false|1||false|true|true|PLA2G2C:391013|true|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|12139100|20501582|false|false|0|true|0|false|0.791916_%2C_0.208084|false|false|false|SNV|true|0x05010000060517053f000100|1|false|120|rs12139100|] +1 22033385 . GA G 799.10 PASS FUNCOTATION=[USP48|hg19|chr1|22033386|22033386|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:22033386delA|ENST00000529637.1|-|16|2010|c.1975delT|c.(1975-1977)tccfs|p.S659fs|0.35910224438902744|ATATATTTGGAAAAAAAAAAA|USP48_ENST00000308271.9_INTRON/USP48_ENST00000374732.3_INTRON/USP48_ENST00000400301.1_INTRON|||||||||||||||||||||||||615|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||BC143354|||HGNC:18533|ubiquitin_%20_specific_%20_peptidase_%20_48|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|USP31|"ubiquitin_%20_specific_%20_protease_%20_31"_%2C__%20_"ubiquitin_%20_specific_%20_protease_%20_48"|FLJ23277_%2C__%20_FLJ11328_%2C__%20_FLJ20103_%2C__%20_FLJ23054_%2C__%20_MGC14879||1p36.12|2015-08-26|2004-04-07|2005-08-08|AF502942||84196|ENSG00000090686|12838346|NM_032236|366|Ubiquitin_%20_specific_%20_peptidases|CCDS30623_%2C__%20_CCDS44084_%2C__%20_CCDS81277|OTTHUMG00000007798|84196|617445|NM_001032730|Q86UV5|ENSG00000090686|uc001bfb.4|UBP48_HUMAN||B7ZKS7_%7C_Q2M3I4_%7C_Q5SZI4_%7C_Q5T3T5_%7C_Q6NX53_%7C_Q8N3F6_%7C_Q96F64_%7C_Q96IQ3_%7C_Q9H5N3_%7C_Q9H5T7_%7C_Q9NUJ6_%7C_Q9NXR0|Q86UV5|ubiquitin-dependent_%20_protein_%20_catabolic_%20_process_%20_(GO:0006511)|cytoplasm_%20_(GO:0005737)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|ubiquitin-specific_%20_protease_%20_activity_%20_(GO:0004843)||||true|false||false|false|||false|false|false|USP48:84196|false|false|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|532575338|22033386|false|false|0|false|0|false||false|false|false|DIV|true|0x050000081205040002000200|1|false|142|rs532575338|] +1 23280024 . G GCAC 529.29 PASS FUNCOTATION=[LACTBL1|hg19|chr1|23280024|23280025|IN_FRAME_INS||INS|-|-|CAC|g.chr1:23280024_23280025insCAC|ENST00000426928.2|-|6|1153|c.1152_1153insGTG|c.(1150-1155)gtgctg>gtgGTGctg|p.384_385insV|0.765|CCAGCAGCAGCACCAGGCCC||||||||||||||||||||||||||||||||||AL035704|||HGNC:35445|lactamase_%20_beta_%20_like_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36.12|2015-11-23||2015-11-23|||646262|ENSG00000215906||XM_002342035.1||||OTTHUMG00000003228|646262||NM_001289974|A8MY62|ENSG00000215906|uc057dei.1|BLML_HUMAN|||A8MY62|||||||true|false||false|false|||false|false|false|LACTBL1:646262|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|764403246|23280024|false|false|0|false|0|false||false|false|false|DIV|false|0x050000000005000002000200|1|false|144|rs764403246|] +1 23670803 rs12409193 G C 411.95 PASS FUNCOTATION=[HNRNPR|hg19|chr1|23670803|23670803|DE_NOVO_START_IN_FRAME||SNP|G|G|C|g.chr1:23670803G>C|ENST00000374616.3|-|1|||||0.683291770573566|TCCCCCCCCTGATGGACTGAG|HNRNPR_ENST00000374612.1_DE_NOVO_START_IN_FRAME/HNRNPR_ENST00000478691.1_DE_NOVO_START_OUT_FRAME/HNRNPR_ENST00000302271.6_FIVE_PRIME_FLANK/HNRNPR_ENST00000426846.2_FIVE_PRIME_FLANK/HNRNPR_ENST00000427764.2_FIVE_PRIME_FLANK/HNRNPR_ENST00000606561.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||178|central_nervous_system(22)_%7C_haematopoietic_and_lymphoid_tissue(156)|||||||DQ351905|||HGNC:5047|heterogeneous_%20_nuclear_%20_ribonucleoprotein_%20_R|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HNRPR||hnRNP-R||1p36.12|2015-09-11|2007-08-16||AF000364||10236|ENSG00000125944|9421497|NM_005826|725|RNA_%20_binding_%20_motif_%20_containing|CCDS232_%2C__%20_CCDS44085_%2C__%20_CCDS60020_%2C__%20_CCDS72726_%2C__%20_CCDS72727|OTTHUMG00000003224|10236|607201|NM_001102397|O43390|ENSG00000125944|uc057dey.1|HNRPR_HUMAN||Q2L7G6_%7C_Q5TEH1_%7C_Q9BV64_%7C_S4R3J4|O43390|gene_%20_expression_%20_(GO:0010467)_%7C_mRNA_%20_processing_%20_(GO:0006397)_%7C_mRNA_%20_splicing_%2C__%20_via_%20_spliceosome_%20_(GO:0000398)_%7C_RNA_%20_splicing_%20_(GO:0008380)|catalytic_%20_step_%20_2_%20_spliceosome_%20_(GO:0071013)_%7C_cytoplasm_%20_(GO:0005737)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_ribonucleoprotein_%20_complex_%20_(GO:0030529)_%7C_spliceosomal_%20_complex_%20_(GO:0005681)|nucleotide_%20_binding_%20_(GO:0000166)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_RNA_%20_binding_%20_(GO:0003723)||||true|false|0.6534_%2C_0.3466|false|false|1||false|true|true|HNRNPR:10236|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|12409193|23670803|false|false|0|true|0|false|0.645099_%2C_0.354901|false|false|true|SNV|true|0x05010042000517053e000100|1|false|120|rs12409193|] +1 23966894 rs5773050 T TAAG 583.16 PASS FUNCOTATION=[MDS2|hg19|chr1|23966894|23966895|IN_FRAME_INS||INS|-|-|AAG|g.chr1:23966894_23966895insAAG|ENST00000374555.3|+|7|865|c.278_279insAAG|c.(277-279)gta>gtAAGa|p.93_94insR|0.4525|GTGGCTTTGTAAGAAGAAAA|MDS2_ENST00000477916.1_INTRON||myelodysplastic_%20_syndrome_%20_2|259283|1|1p36|yes||MDS|||L|Dom|T|ETV6|||||||||||681|biliary_tract(2)_%7C_breast(174)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||AL451000|||HGNC:29633|myelodysplastic_%20_syndrome_%20_2_%20_translocation_%20_associated|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p36|2017-08-17|||AJ310434||259283|ENSG00000197880|12203785|||||OTTHUMG00000002927|259283|607305|NR_027042|Q8NDY4|ENSG00000197880|uc057dgf.1|MDS2_HUMAN|||Q8NDY4||extracellular_%20_space_%20_(GO:0005615)||_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.7232_%2C_0.2768_%7C_0.7232_%2C_0.2768|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|MDS2:259283_%7C_MDS2:259283|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|3072132_%7C_5773050|23966894_%7C_23966902|true_%7C_false|false_%7C_false|0_%7C_0|true_%7C_false|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05010000000517003e000200_%7C_0x050000000005000002000200|1_%7C_1|false_%7C_false|102_%7C_138|rs3072132_%7C_rs5773050|_%7C_] +1 26608825 . TGGGGCCG T 2482.89 PASS FUNCOTATION=[UBXN11|hg19|chr1|26608826|26608832|FRAME_SHIFT_DEL||DEL|GGGGCCG|GGGGCCG|-|g.chr1:26608826_26608832delGGGGCCG|ENST00000374222.1|-|16|1993_1999|c.1521_1527delCGGCCCC|c.(1519-1527)cccggccccfs|p.G508fs|0.7002457002457002|GACAGGGACTGGGGCCGGGACCGGGAC|UBXN11_ENST00000374221.3_FRAME_SHIFT_DEL_p.G508fs/UBXN11_ENST00000314675.7_FRAME_SHIFT_DEL_p.G388fs/UBXN11_ENST00000357089.4_FRAME_SHIFT_DEL_p.G475fs/UBXN11_ENST00000374223.1_FRAME_SHIFT_DEL_p.G265fs/UBXN11_ENST00000374217.2_FRAME_SHIFT_DEL_p.G475fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR749413|||HGNC:30600|UBX_%20_domain_%20_protein_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|UBXD5|"UBX_%20_domain_%20_containing_%20_5"|SOC_%2C__%20_SOCI|"socius"|1p36.11|2014-11-18|2008-07-25|2008-07-25|AF521017||91544|ENSG00000158062|11940653|NM_145345|364|UBX_%20_domain_%20_containing|CCDS41286_%2C__%20_CCDS41287_%2C__%20_CCDS41288|OTTHUMG00000003382|91544|609151|NM_001077262|Q5T124|ENSG00000158062|uc057dqd.1|UBX11_HUMAN||D3DPK6_%7C_Q5T117_%7C_Q5T120_%7C_Q5T125_%7C_Q5T126_%7C_Q5T129_%7C_Q5T131_%7C_Q5T133_%7C_Q63HM6_%7C_Q71RB3_%7C_Q8IY27_%7C_Q8N1L6_%7C_Q8N9M4_%7C_Q8NA18_%7C_Q8NFE3_%7C_Q8NFE4_%7C_Q8NFE6|Q5T124||cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)|||||true|false||false|false|||false|false|false|UBXN11:91544|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|752317296|26608826|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs752317296|] +1 26608835 . ACCGGGACCGGGACTGGG A 2471.89 PASS FUNCOTATION=[UBXN11|hg19|chr1|26608836|26608852|FRAME_SHIFT_DEL||DEL|CCGGGACCGGGACTGGG|CCGGGACCGGGACTGGG|-|g.chr1:26608836_26608852delCCGGGACCGGGACTGGG|ENST00000374222.1|-|16|1983_1999|c.1501_1517delCCCAGTCCCGGTCCCGG|c.(1501-1518)cccagtcccggtcccggtfs|p.P501fs|0.6954436450839329|GGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCG|UBXN11_ENST00000374221.3_FRAME_SHIFT_DEL_p.P501fs/UBXN11_ENST00000314675.7_FRAME_SHIFT_DEL_p.P381fs/UBXN11_ENST00000357089.4_FRAME_SHIFT_DEL_p.P468fs/UBXN11_ENST00000374223.1_FRAME_SHIFT_DEL_p.P258fs/UBXN11_ENST00000374217.2_FRAME_SHIFT_DEL_p.P468fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR749413|||HGNC:30600|UBX_%20_domain_%20_protein_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|UBXD5|"UBX_%20_domain_%20_containing_%20_5"|SOC_%2C__%20_SOCI|"socius"|1p36.11|2014-11-18|2008-07-25|2008-07-25|AF521017||91544|ENSG00000158062|11940653|NM_145345|364|UBX_%20_domain_%20_containing|CCDS41286_%2C__%20_CCDS41287_%2C__%20_CCDS41288|OTTHUMG00000003382|91544|609151|NM_001077262|Q5T124|ENSG00000158062|uc057dqd.1|UBX11_HUMAN||D3DPK6_%7C_Q5T117_%7C_Q5T120_%7C_Q5T125_%7C_Q5T126_%7C_Q5T129_%7C_Q5T131_%7C_Q5T133_%7C_Q63HM6_%7C_Q71RB3_%7C_Q8IY27_%7C_Q8N1L6_%7C_Q8N9M4_%7C_Q8NA18_%7C_Q8NFE3_%7C_Q8NFE4_%7C_Q8NFE6|Q5T124||cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)|||||true|false||false|false|||false|false|false|UBXN11:91544|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|757094832|26608836|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs757094832|] +1 26608865 . ACC A 411.26 PASS FUNCOTATION=[UBXN11|hg19|chr1|26608866|26608867|FRAME_SHIFT_DEL||DEL|CC|CC|-|g.chr1:26608866_26608867delCC|ENST00000374222.1|-|16|1953_1954|c.1486_1487delGG|c.(1486-1488)ggtfs|p.G496fs|0.6865671641791045|GGGACCGGGACCGGGACTGGGG|UBXN11_ENST00000374221.3_FRAME_SHIFT_DEL_p.G496fs/UBXN11_ENST00000314675.7_FRAME_SHIFT_DEL_p.G376fs/UBXN11_ENST00000357089.4_FRAME_SHIFT_DEL_p.G463fs/UBXN11_ENST00000374223.1_FRAME_SHIFT_DEL_p.G253fs/UBXN11_ENST00000374217.2_FRAME_SHIFT_DEL_p.G463fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR749413|||HGNC:30600|UBX_%20_domain_%20_protein_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|UBXD5|"UBX_%20_domain_%20_containing_%20_5"|SOC_%2C__%20_SOCI|"socius"|1p36.11|2014-11-18|2008-07-25|2008-07-25|AF521017||91544|ENSG00000158062|11940653|NM_145345|364|UBX_%20_domain_%20_containing|CCDS41286_%2C__%20_CCDS41287_%2C__%20_CCDS41288|OTTHUMG00000003382|91544|609151|NM_001077262|Q5T124|ENSG00000158062|uc057dqd.1|UBX11_HUMAN||D3DPK6_%7C_Q5T117_%7C_Q5T120_%7C_Q5T125_%7C_Q5T126_%7C_Q5T129_%7C_Q5T131_%7C_Q5T133_%7C_Q63HM6_%7C_Q71RB3_%7C_Q8IY27_%7C_Q8N1L6_%7C_Q8N9M4_%7C_Q8NA18_%7C_Q8NFE3_%7C_Q8NFE4_%7C_Q8NFE6|Q5T124||cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)|||||true|false||false|false|||false|false|false|UBXN11:91544|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|764852231|26608866|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs764852231|] +1 26608868 . GGGACTGGGGCCGGGACCGGGACCGGGAC G 372.26 PASS FUNCOTATION=[UBXN11|hg19|chr1|26608869|26608896|FRAME_SHIFT_DEL||DEL|GGACTGGGGCCGGGACCGGGACCGGGAC|GGACTGGGGCCGGGACCGGGACCGGGAC|-|g.chr1:26608869_26608896delGGACTGGGGCCGGGACCGGGACCGGGAC|ENST00000374222.1|-|16|1950_1977|c.1457_1484delGTCCCGGTCCCGGTCCCGGCCCCAGTCC|c.(1456-1485)tgtcccggtcccggtcccggccccagtcccfs|p.C486fs|0.6892523364485982|ACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACAGGGACCAGG|UBXN11_ENST00000374221.3_FRAME_SHIFT_DEL_p.C486fs/UBXN11_ENST00000314675.7_FRAME_SHIFT_DEL_p.C366fs/UBXN11_ENST00000357089.4_FRAME_SHIFT_DEL_p.C453fs/UBXN11_ENST00000374223.1_FRAME_SHIFT_DEL_p.C243fs/UBXN11_ENST00000374217.2_FRAME_SHIFT_DEL_p.C453fs|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR749413|||HGNC:30600|UBX_%20_domain_%20_protein_%20_11|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|UBXD5|"UBX_%20_domain_%20_containing_%20_5"|SOC_%2C__%20_SOCI|"socius"|1p36.11|2014-11-18|2008-07-25|2008-07-25|AF521017||91544|ENSG00000158062|11940653|NM_145345|364|UBX_%20_domain_%20_containing|CCDS41286_%2C__%20_CCDS41287_%2C__%20_CCDS41288|OTTHUMG00000003382|91544|609151|NM_001077262|Q5T124|ENSG00000158062|uc057dqd.1|UBX11_HUMAN||D3DPK6_%7C_Q5T117_%7C_Q5T120_%7C_Q5T125_%7C_Q5T126_%7C_Q5T129_%7C_Q5T131_%7C_Q5T133_%7C_Q63HM6_%7C_Q71RB3_%7C_Q8IY27_%7C_Q8N1L6_%7C_Q8N9M4_%7C_Q8NA18_%7C_Q8NFE3_%7C_Q8NFE4_%7C_Q8NFE6|Q5T124||cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)|||||true|false||false|false|||false|false|false|UBXN11:91544|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|757886085|26608869|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040002000200|1|false|144|rs757886085|] +1 28800350 . CCAGAAA C 132.29 PASS FUNCOTATION=[PHACTR4|hg19|chr1|28800351|28800356|IN_FRAME_DEL||DEL|CAGAAA|CAGAAA|-|g.chr1:28800351_28800356delCAGAAA|ENST00000373836.3|+|6|1352_1357|c.1139_1144delCAGAAA|c.(1138-1146)ccagaaatt>ctt|p.380_382PEI>L|0.5246305418719212|CAAGTTGTGCCAGAAATTGAGTTTCC|PHACTR4_ENST00000373839.3_IN_FRAME_DEL_p.370_372PEI>L/PHACTR4_ENST00000493669.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR749449|NM_023923.3|NP_076412.3|HGNC:25793|phosphatase_%20_and_%20_actin_%20_regulator_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13171_%2C__%20_PPP1R124|"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_124"|1p35.3|2016-10-05|||AF130081||65979|ENSG00000204138|11483580_%2C__%20_15107502|NM_023923|679_%7C_694|Phosphatase_%20_and_%20_actin_%20_regulators_%7C_Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS41293_%2C__%20_CCDS41294|OTTHUMG00000003541|65979|608726|NM_001048183|Q8IZ21|ENSG00000204138|uc001bpy.5|PHAR4_HUMAN||A2APK6_%7C_B9ZVW0_%7C_D3DPM3_%7C_Q68DD4_%7C_Q6NUN6_%7C_Q8N384_%7C_Q9H395_%7C_Q9H6X0_%7C_Q9H8W6|Q8IZ21|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_closure_%20_of_%20_optic_%20_fissure_%20_(GO:0061386)_%7C_enteric_%20_nervous_%20_system_%20_development_%20_(GO:0048484)_%7C_negative_%20_regulation_%20_of_%20_integrin-mediated_%20_signaling_%20_pathway_%20_(GO:2001045)_%7C_neural_%20_crest_%20_cell_%20_migration_%20_(GO:0001755)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_positive_%20_regulation_%20_of_%20_catalytic_%20_activity_%20_(GO:0043085)_%7C_regulation_%20_of_%20_cell_%20_cycle_%20_(GO:0051726)_%7C_Rho_%20_protein_%20_signal_%20_transduction_%20_(GO:0007266)|cytoplasm_%20_(GO:0005737)_%7C_lamellipodium_%20_(GO:0030027)|actin_%20_binding_%20_(GO:0003779)_%7C_protein_%20_phosphatase_%20_1_%20_binding_%20_(GO:0008157)_%7C_protein_%20_phosphatase_%20_type_%20_1_%20_activator_%20_activity_%20_(GO:0071862)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 28800358 . TGAG T 130.68 PASS FUNCOTATION=[PHACTR4|hg19|chr1|28800359|28800361|IN_FRAME_DEL||DEL|GAG|GAG|-|g.chr1:28800359_28800361delGAG|ENST00000373836.3|+|6|1360_1362|c.1147_1149delGAG|c.(1147-1149)gagdel|p.E383del|0.5260545905707196|GCCAGAAATTGAGTTTCCACCAT|PHACTR4_ENST00000373839.3_IN_FRAME_DEL_p.E373del/PHACTR4_ENST00000493669.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR749449|NM_023923.3|NP_076412.3|HGNC:25793|phosphatase_%20_and_%20_actin_%20_regulator_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13171_%2C__%20_PPP1R124|"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_124"|1p35.3|2016-10-05|||AF130081||65979|ENSG00000204138|11483580_%2C__%20_15107502|NM_023923|679_%7C_694|Phosphatase_%20_and_%20_actin_%20_regulators_%7C_Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS41293_%2C__%20_CCDS41294|OTTHUMG00000003541|65979|608726|NM_001048183|Q8IZ21|ENSG00000204138|uc001bpy.5|PHAR4_HUMAN||A2APK6_%7C_B9ZVW0_%7C_D3DPM3_%7C_Q68DD4_%7C_Q6NUN6_%7C_Q8N384_%7C_Q9H395_%7C_Q9H6X0_%7C_Q9H8W6|Q8IZ21|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_closure_%20_of_%20_optic_%20_fissure_%20_(GO:0061386)_%7C_enteric_%20_nervous_%20_system_%20_development_%20_(GO:0048484)_%7C_negative_%20_regulation_%20_of_%20_integrin-mediated_%20_signaling_%20_pathway_%20_(GO:2001045)_%7C_neural_%20_crest_%20_cell_%20_migration_%20_(GO:0001755)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_positive_%20_regulation_%20_of_%20_catalytic_%20_activity_%20_(GO:0043085)_%7C_regulation_%20_of_%20_cell_%20_cycle_%20_(GO:0051726)_%7C_Rho_%20_protein_%20_signal_%20_transduction_%20_(GO:0007266)|cytoplasm_%20_(GO:0005737)_%7C_lamellipodium_%20_(GO:0030027)|actin_%20_binding_%20_(GO:0003779)_%7C_protein_%20_phosphatase_%20_1_%20_binding_%20_(GO:0008157)_%7C_protein_%20_phosphatase_%20_type_%20_1_%20_activator_%20_activity_%20_(GO:0071862)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 28800364 . T TTAATGATACGG 174.58 PASS FUNCOTATION=[PHACTR4|hg19|chr1|28800364|28800365|FRAME_SHIFT_INS||INS|-|-|TAATGATACGG|g.chr1:28800364_28800365insTAATGATACGG|ENST00000373836.3|+|6|1366|c.1152_1153insTAATGATACGG|c.(1153-1155)ccafs|p.P385fs|0.525|AATTGAGTTTCCACCATCCT|PHACTR4_ENST00000373839.3_FRAME_SHIFT_INS_p.P375fs/PHACTR4_ENST00000493669.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR749449|NM_023923.3|NP_076412.3|HGNC:25793|phosphatase_%20_and_%20_actin_%20_regulator_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13171_%2C__%20_PPP1R124|"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_124"|1p35.3|2016-10-05|||AF130081||65979|ENSG00000204138|11483580_%2C__%20_15107502|NM_023923|679_%7C_694|Phosphatase_%20_and_%20_actin_%20_regulators_%7C_Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS41293_%2C__%20_CCDS41294|OTTHUMG00000003541|65979|608726|NM_001048183|Q8IZ21|ENSG00000204138|uc001bpy.5|PHAR4_HUMAN||A2APK6_%7C_B9ZVW0_%7C_D3DPM3_%7C_Q68DD4_%7C_Q6NUN6_%7C_Q8N384_%7C_Q9H395_%7C_Q9H6X0_%7C_Q9H8W6|Q8IZ21|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_closure_%20_of_%20_optic_%20_fissure_%20_(GO:0061386)_%7C_enteric_%20_nervous_%20_system_%20_development_%20_(GO:0048484)_%7C_negative_%20_regulation_%20_of_%20_integrin-mediated_%20_signaling_%20_pathway_%20_(GO:2001045)_%7C_neural_%20_crest_%20_cell_%20_migration_%20_(GO:0001755)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_positive_%20_regulation_%20_of_%20_catalytic_%20_activity_%20_(GO:0043085)_%7C_regulation_%20_of_%20_cell_%20_cycle_%20_(GO:0051726)_%7C_Rho_%20_protein_%20_signal_%20_transduction_%20_(GO:0007266)|cytoplasm_%20_(GO:0005737)_%7C_lamellipodium_%20_(GO:0030027)|actin_%20_binding_%20_(GO:0003779)_%7C_protein_%20_phosphatase_%20_1_%20_binding_%20_(GO:0008157)_%7C_protein_%20_phosphatase_%20_type_%20_1_%20_activator_%20_activity_%20_(GO:0071862)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 28800370 . AT A 200.53 PASS FUNCOTATION=[PHACTR4|hg19|chr1|28800371|28800371|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:28800371delT|ENST00000373836.3|+|6|1372|c.1159delT|c.(1159-1161)tccfs|p.S387fs|0.5236907730673317|GTTTCCACCATCCTTAGATCT|PHACTR4_ENST00000373839.3_FRAME_SHIFT_DEL_p.S377fs/PHACTR4_ENST00000493669.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR749449|NM_023923.3|NP_076412.3|HGNC:25793|phosphatase_%20_and_%20_actin_%20_regulator_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13171_%2C__%20_PPP1R124|"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_124"|1p35.3|2016-10-05|||AF130081||65979|ENSG00000204138|11483580_%2C__%20_15107502|NM_023923|679_%7C_694|Phosphatase_%20_and_%20_actin_%20_regulators_%7C_Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS41293_%2C__%20_CCDS41294|OTTHUMG00000003541|65979|608726|NM_001048183|Q8IZ21|ENSG00000204138|uc001bpy.5|PHAR4_HUMAN||A2APK6_%7C_B9ZVW0_%7C_D3DPM3_%7C_Q68DD4_%7C_Q6NUN6_%7C_Q8N384_%7C_Q9H395_%7C_Q9H6X0_%7C_Q9H8W6|Q8IZ21|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_closure_%20_of_%20_optic_%20_fissure_%20_(GO:0061386)_%7C_enteric_%20_nervous_%20_system_%20_development_%20_(GO:0048484)_%7C_negative_%20_regulation_%20_of_%20_integrin-mediated_%20_signaling_%20_pathway_%20_(GO:2001045)_%7C_neural_%20_crest_%20_cell_%20_migration_%20_(GO:0001755)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_positive_%20_regulation_%20_of_%20_catalytic_%20_activity_%20_(GO:0043085)_%7C_regulation_%20_of_%20_cell_%20_cycle_%20_(GO:0051726)_%7C_Rho_%20_protein_%20_signal_%20_transduction_%20_(GO:0007266)|cytoplasm_%20_(GO:0005737)_%7C_lamellipodium_%20_(GO:0030027)|actin_%20_binding_%20_(GO:0003779)_%7C_protein_%20_phosphatase_%20_1_%20_binding_%20_(GO:0008157)_%7C_protein_%20_phosphatase_%20_type_%20_1_%20_activator_%20_activity_%20_(GO:0071862)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 28800375 . T G 213.53 PASS FUNCOTATION=[PHACTR4|hg19|chr1|28800375|28800375|NONSENSE||SNP|T|T|G|g.chr1:28800375T>G|ENST00000373836.3|+|6|1377|c.1163T>G|c.(1162-1164)tTa>tGa|p.L388*|0.5211970074812967|CCACCATCCTTAGATCTACAC|PHACTR4_ENST00000373839.3_NONSENSE_p.L378*/PHACTR4_ENST00000493669.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR749449|NM_023923.3|NP_076412.3|HGNC:25793|phosphatase_%20_and_%20_actin_%20_regulator_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ13171_%2C__%20_PPP1R124|"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_124"|1p35.3|2016-10-05|||AF130081||65979|ENSG00000204138|11483580_%2C__%20_15107502|NM_023923|679_%7C_694|Phosphatase_%20_and_%20_actin_%20_regulators_%7C_Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits|CCDS41293_%2C__%20_CCDS41294|OTTHUMG00000003541|65979|608726|NM_001048183|Q8IZ21|ENSG00000204138|uc001bpy.5|PHAR4_HUMAN||A2APK6_%7C_B9ZVW0_%7C_D3DPM3_%7C_Q68DD4_%7C_Q6NUN6_%7C_Q8N384_%7C_Q9H395_%7C_Q9H6X0_%7C_Q9H8W6|Q8IZ21|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_closure_%20_of_%20_optic_%20_fissure_%20_(GO:0061386)_%7C_enteric_%20_nervous_%20_system_%20_development_%20_(GO:0048484)_%7C_negative_%20_regulation_%20_of_%20_integrin-mediated_%20_signaling_%20_pathway_%20_(GO:2001045)_%7C_neural_%20_crest_%20_cell_%20_migration_%20_(GO:0001755)_%7C_neural_%20_tube_%20_closure_%20_(GO:0001843)_%7C_positive_%20_regulation_%20_of_%20_catalytic_%20_activity_%20_(GO:0043085)_%7C_regulation_%20_of_%20_cell_%20_cycle_%20_(GO:0051726)_%7C_Rho_%20_protein_%20_signal_%20_transduction_%20_(GO:0007266)|cytoplasm_%20_(GO:0005737)_%7C_lamellipodium_%20_(GO:0030027)|actin_%20_binding_%20_(GO:0003779)_%7C_protein_%20_phosphatase_%20_1_%20_binding_%20_(GO:0008157)_%7C_protein_%20_phosphatase_%20_type_%20_1_%20_activator_%20_activity_%20_(GO:0071862)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 31882582 rs4012494 G GGCCTCA 1419.16 PASS FUNCOTATION=[SERINC2|hg19|chr1|31882582|31882583|FIVE_PRIME_UTR||INS|-|-|GCCTCA|g.chr1:31882582_31882583insGCCTCA|ENST00000373710.1|+|1|||||0.5025|ATAAGGGATGGCCCTGCTCT|SERINC2_ENST00000373709.3_FIVE_PRIME_FLANK/SERINC2_ENST00000536384.1_FIVE_PRIME_FLANK/SERINC2_ENST00000536859.1_FIVE_PRIME_FLANK/SERINC2_ENST00000491976.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC126285|NM_001199038.1|NP_001185967.1|HGNC:23231|serine_%20_incorporator_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TDE2L|"tumor_%20_differentially_%20_expressed_%20_2-like"|FKSG84_%2C__%20_PRO0899_%2C__%20_TDE2||1p35.2|2016-10-05|2005-11-01|2005-11-01|AY094595||347735|ENSG00000168528|12949800|NM_018565|||CCDS30662_%2C__%20_CCDS55583_%2C__%20_CCDS55584_%2C__%20_CCDS55585|OTTHUMG00000003796|347735|614549|NM_001199037|Q96SA4|ENSG00000168528|uc001bst.4|SERC2_HUMAN||A0AVB4_%7C_B4DJK5_%7C_B7Z567_%7C_B7ZAP2_%7C_E7EUZ9_%7C_Q86Y23|Q96SA4|phosphatidylserine_%20_metabolic_%20_process_%20_(GO:0006658)_%7C_positive_%20_regulation_%20_of_%20_transferase_%20_activity_%20_(GO:0051347)_%7C_sphingolipid_%20_metabolic_%20_process_%20_(GO:0006665)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|L-serine_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015194)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.4065_%2C_0.5935_%7C_0.4065_%2C_0.5935|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|SERINC2:347735_%7C_SERINC2:347735|true_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_true|false_%7C_false|4012494_%7C_6143179|31882582_%7C_31882585|true_%7C_false|false_%7C_false|0_%7C_0|true_%7C_true|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|true_%7C_true|DIV_%7C_DIV|true_%7C_false|0x05010042000517012e000200_%7C_0x050100420005000102000200|1_%7C_1|false_%7C_false|108_%7C_130|rs4012494_%7C_rs6143179|_%7C_] +1 31905889 rs3050461 A ACAG 3632.73 PASS FUNCOTATION=[SERINC2|hg19|chr1|31905889|31905890|IN_FRAME_INS||INS|-|-|CAG|g.chr1:31905889_31905890insCAG|ENST00000373709.3|+|9|1239|c.1089_1090insCAG|c.(1090-1092)cag>CAGcag|p.363_364insQ|0.6025|AGACGCCACACAGCAGCAGC|SERINC2_ENST00000373710.1_IN_FRAME_INS_p.372_373insQ/SERINC2_ENST00000536384.1_IN_FRAME_INS_p.367_368insQ/SERINC2_ENST00000536859.1_IN_FRAME_INS_p.367_368insQ/AC114494.1_ENST00000596131.1_FIVE_PRIME_FLANK/SERINC2_ENST00000491976.1_INTRON|||||||||||||||||||||||||92|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(1)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC126285|NM_178865.4|NP_849196.2|HGNC:23231|serine_%20_incorporator_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|TDE2L|"tumor_%20_differentially_%20_expressed_%20_2-like"|FKSG84_%2C__%20_PRO0899_%2C__%20_TDE2||1p35.2|2016-10-05|2005-11-01|2005-11-01|AY094595||347735|ENSG00000168528|12949800|NM_018565|||CCDS30662_%2C__%20_CCDS55583_%2C__%20_CCDS55584_%2C__%20_CCDS55585|OTTHUMG00000003796|347735|614549|NM_001199037|Q96SA4|ENSG00000168528|uc001bst.4|SERC2_HUMAN||A0AVB4_%7C_B4DJK5_%7C_B7Z567_%7C_B7ZAP2_%7C_E7EUZ9_%7C_Q86Y23|Q96SA4|phosphatidylserine_%20_metabolic_%20_process_%20_(GO:0006658)_%7C_positive_%20_regulation_%20_of_%20_transferase_%20_activity_%20_(GO:0051347)_%7C_sphingolipid_%20_metabolic_%20_process_%20_(GO:0006665)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|L-serine_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015194)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.261_%2C_0.739_%7C_0.261_%2C_0.739|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|SERINC2:347735_%7C_SERINC2:347735|false_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|3050461_%7C_5773362|31905889_%7C_31905904|true_%7C_false|false_%7C_false|0_%7C_0|true_%7C_true|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05010000000517002e000200_%7C_0x050100000005000102000200|1_%7C_1|false_%7C_false|102_%7C_126|rs3050461_%7C_rs5773362|_%7C_] +1 36184975 rs7521021 G A 3135.69 PASS FUNCOTATION=[C1orf216|hg19|chr1|36184975|36184975|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:36184975G>A|ENST00000270815.4|-|1|||||0.5461346633416458|CCTAGATCACGTTCGTTCCCC|C1orf216_ENST00000503824.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||68|biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22)|||||||CH471059|NM_152374.1|NP_689587.1|HGNC:26800|chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_216|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ38984||1p34.3|2016-09-30|||AK096303||127703|ENSG00000142686|12477932|NM_152374|||CCDS395|OTTHUMG00000004167|127703||NM_152374|Q8TAB5|ENSG00000142686|uc001bzh.2|CA216_HUMAN||D3DPS1_%7C_Q8N8N6|Q8TAB5|||||||true|false|0.02416_%2C_0.9758|false|false|1||false|true|false|C1orf216:127703|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|7521021|36184975|false|false|0|true|0|false|0.025929_%2C_0.974071|false|false|false|SNV|true|0x05010002000515053f000100|1|false|116|rs7521021|] +1 36643700 rs141305015 GAGA G 909.25 PASS FUNCOTATION=[MAP7D1|hg19|chr1|36643701|36643703|IN_FRAME_DEL||DEL|AGA|AGA|-|g.chr1:36643701_36643703delAGA|ENST00000373151.2|+|9|1822_1824|c.1607_1609delAGA|c.(1606-1611)gagaag>gag|p.K537del|0.6972704714640199|GCCAGTAACGAGAAGGAGTCAGC|MAP7D1_ENST00000373150.4_IN_FRAME_DEL_p.K505del/MAP7D1_ENST00000316156.4_IN_FRAME_DEL_p.K500del/MAP7D1_ENST00000373148.4_IN_FRAME_DEL_p.K83del|||||||||||||||||||||||||135|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(44)_%7C_large_intestine(35)_%7C_pancreas(22)|||||||CR457254|NM_018067.3|NP_060537.3|HGNC:25514|MAP7_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|PARCC1_%2C__%20_RPRC1|"proline_%20_arginine_%20_rich_%20_coiled_%20_coil_%20_1"_%2C__%20_"arginine/proline_%20_rich_%20_coiled-coil_%20_1"|FLJ10350_%2C__%20_FLJ39022||1p34.3|2014-11-18|2007-02-08|2007-02-08|AK096341||55700|ENSG00000116871|10574461|NM_018067|||CCDS30673_%2C__%20_CCDS65492_%2C__%20_CCDS65493|OTTHUMG00000007714|55700||NM_001286365|Q3KQU3|ENSG00000116871|uc001bzz.5|MA7D1_HUMAN||D3DPS4_%7C_Q7L8J5_%7C_Q8N905_%7C_Q8TAK0_%7C_Q9HBQ2_%7C_Q9NW29_%7C_Q9ULN3|Q3KQU3|microtubule_%20_cytoskeleton_%20_organization_%20_(GO:0000226)|cytoplasm_%20_(GO:0005737)_%7C_microtubule_%20_(GO:0005874)_%7C_microtubule_%20_cytoskeleton_%20_(GO:0015630)||_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.9355_%2C_0.0645_%7C_0.9355_%2C_0.0645|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|false_%7C_false|MAP7D1:55700_%7C_MAP7D1:55700|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|141305015_%7C_3045695|36643701_%7C_36643703|false_%7C_true|false_%7C_false|0_%7C_0|false_%7C_true|0_%7C_0|false_%7C_false|0.973178_%2C_0.0268219_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05000000000515003e000200_%7C_0x050100000005000002000200|1_%7C_1|false_%7C_false|134_%7C_102|rs141305015_%7C_rs3045695|_%7C_] +1 40131838 . T TC 48.29 PASS FUNCOTATION=[NT5C1A|hg19|chr1|40131838|40131839|FRAME_SHIFT_INS||INS|-|-|C|g.chr1:40131838_40131839insC|ENST00000235628.1|-|2|206|c.205_206insG|c.(205-207)cagfs|p.Q69fs|0.565|GTGTAGATCTGCTGCTCCTC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC103880|NM_032526.1|NP_115915.1|HGNC:17819|5'-nucleotidase_%2C__%20_cytosolic_%20_IA|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CN-I_%2C__%20_CN-IA_%2C__%20_CN1A_%2C__%20_CN1_%2C__%20_MGC119199_%2C__%20_MGC119201|"cytosolic_%20_5'_%20_nucleotidase_%2C__%20_type_%20_1A"_%2C__%20_"AMP-specific_%20_5'-NT"_%2C__%20_"cytosolic_%20_5'-nucleotidase_%20_IA"|1p34.2|2016-10-05|||AF331801|3.1.3.5|84618|ENSG00000116981|11133996_%2C__%20_11690631|NM_032526|1042|5'-nucleotidases|CCDS440|OTTHUMG00000009244|84618|610525|NM_032526|Q9BXI3|ENSG00000116981|uc001cdq.1|5NT1A_HUMAN||Q3SYB9_%7C_Q5TG98_%7C_Q9BWT8|Q9BXI3|adenosine_%20_metabolic_%20_process_%20_(GO:0046085)_%7C_dephosphorylation_%20_(GO:0016311)_%7C_nucleobase-containing_%20_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0055086)_%7C_nucleoside_%20_metabolic_%20_process_%20_(GO:0009116)_%7C_purine_%20_nucleobase_%20_metabolic_%20_process_%20_(GO:0006144)_%7C_purine_%20_nucleoside_%20_monophosphate_%20_catabolic_%20_process_%20_(GO:0009128)_%7C_purine_%20_nucleotide_%20_catabolic_%20_process_%20_(GO:0006195)_%7C_pyrimidine_%20_nucleobase_%20_metabolic_%20_process_%20_(GO:0006206)_%7C_pyrimidine_%20_nucleoside_%20_catabolic_%20_process_%20_(GO:0046135)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)|5'-nucleotidase_%20_activity_%20_(GO:0008253)_%7C_magnesium_%20_ion_%20_binding_%20_(GO:0000287)_%7C_nucleotide_%20_binding_%20_(GO:0000166)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 40131850 . T TA 48.29 PASS FUNCOTATION=[NT5C1A|hg19|chr1|40131850|40131851|FRAME_SHIFT_INS||INS|-|-|A|g.chr1:40131850_40131851insA|ENST00000235628.1|-|2|194|c.193_194insT|c.(193-195)gacfs|p.D65fs|0.555|TGCTCCTCGTCCATGCGAAA||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC103880|NM_032526.1|NP_115915.1|HGNC:17819|5'-nucleotidase_%2C__%20_cytosolic_%20_IA|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||CN-I_%2C__%20_CN-IA_%2C__%20_CN1A_%2C__%20_CN1_%2C__%20_MGC119199_%2C__%20_MGC119201|"cytosolic_%20_5'_%20_nucleotidase_%2C__%20_type_%20_1A"_%2C__%20_"AMP-specific_%20_5'-NT"_%2C__%20_"cytosolic_%20_5'-nucleotidase_%20_IA"|1p34.2|2016-10-05|||AF331801|3.1.3.5|84618|ENSG00000116981|11133996_%2C__%20_11690631|NM_032526|1042|5'-nucleotidases|CCDS440|OTTHUMG00000009244|84618|610525|NM_032526|Q9BXI3|ENSG00000116981|uc001cdq.1|5NT1A_HUMAN||Q3SYB9_%7C_Q5TG98_%7C_Q9BWT8|Q9BXI3|adenosine_%20_metabolic_%20_process_%20_(GO:0046085)_%7C_dephosphorylation_%20_(GO:0016311)_%7C_nucleobase-containing_%20_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0055086)_%7C_nucleoside_%20_metabolic_%20_process_%20_(GO:0009116)_%7C_purine_%20_nucleobase_%20_metabolic_%20_process_%20_(GO:0006144)_%7C_purine_%20_nucleoside_%20_monophosphate_%20_catabolic_%20_process_%20_(GO:0009128)_%7C_purine_%20_nucleotide_%20_catabolic_%20_process_%20_(GO:0006195)_%7C_pyrimidine_%20_nucleobase_%20_metabolic_%20_process_%20_(GO:0006206)_%7C_pyrimidine_%20_nucleoside_%20_catabolic_%20_process_%20_(GO:0046135)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytosol_%20_(GO:0005829)|5'-nucleotidase_%20_activity_%20_(GO:0008253)_%7C_magnesium_%20_ion_%20_binding_%20_(GO:0000287)_%7C_nucleotide_%20_binding_%20_(GO:0000166)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 41847872 . G GGCCCGCGCCGGGACGCCCGCCTACTTCGGCGGCTGCAAGGGCGGCGCCTACGGCGGGGGCGGGGGCTTCGGGCCGCCGGCGATGGGCGCTCTGCGCCGTCTGCCCATGCAGACCATCCAGGAGAACAAGCAGGCCAGCTTCGTGCCGGCCGCGGCGCCCTTCCGCCCTGGGGCGCTGCCCGCGCTGCTGCCGCCGCCGCC 3817.87 PASS FUNCOTATION=[FOXO6|hg19|chr1|41847872|41847873|FRAME_SHIFT_INS||INS|-|-|GCCCGCGCCGGGACGCCCGCCTACTTCGGCGGCTGCAAGGGCGGCGCCTACGGCGGGGGCGGGGGCTTCGGGCCGCCGGCGATGGGCGCTCTGCGCCGTCTGCCCATGCAGACCATCCAGGAGAACAAGCAGGCCAGCTTCGTGCCGGCCGCGGCGCCCTTCCGCCCTGGGGCGCTGCCCGCGCTGCTGCCGCCGCCGCC|g.chr1:41847872_41847873insGCCCGCGCCGGGACGCCCGCCTACTTCGGCGGCTGCAAGGGCGGCGCCTACGGCGGGGGCGGGGGCTTCGGGCCGCCGGCGATGGGCGCTCTGCGCCGTCTGCCCATGCAGACCATCCAGGAGAACAAGCAGGCCAGCTTCGTGCCGGCCGCGGCGCCCTTCCGCCCTGGGGCGCTGCCCGCGCTGCTGCCGCCGCCGCC|ENST00000372591.1|+|2|1008|c.999_1000insGCCCGCGCCGGGACGCCCGCCTACTTCGGCGGCTGCAAGGGCGGCGCCTACGGCGGGGGCGGGGGCTTCGGGCCGCCGGCGATGGGCGCTCTGCGCCGTCTGCCCATGCAGACCATCCAGGAGAACAAGCAGGCCAGCTTCGTGCCGGCCGCGGCGCCCTTCCGCCCTGGGGCGCTGCCCGCGCTGCTGCCGCCGCCGCC|c.(1000-1002)gccfs|p.Q337fs|0.8125|CGGGCCGCGGGCCCGCGCCC||||||||||||||||||||||||||||||||||AC093151|||HGNC:24814|forkhead_%20_box_%20_O6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1p34.2|2014-11-18||2009-07-23|||100132074|ENSG00000204060|12857750|XM_002342102|508|Forkhead_%20_boxes||OTTHUMG00000005713|100132074|611457|NM_001291281|A8MYZ6|ENSG00000204060|uc057fid.1|FOXO6_HUMAN|||A8MYZ6|transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 44596379 rs34057178 CCAA C 850.25 PASS FUNCOTATION=[KLF17|hg19|chr1|44596380|44596382|IN_FRAME_DEL||DEL|CAA|CAA|-|g.chr1:44596380_44596382delCAA|ENST00000372299.3|+|3|1179_1181|c.1122_1124delCAA|c.(1120-1125)gccaac>gcc|p.N375del|0.5012406947890818|ACCCACAGGCCAACAACAACAAT|KLF17_ENST00000476802.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC049844|NM_173484.3|NP_775755.3|HGNC:18830|Kruppel_%20_like_%20_factor_%20_17|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|ZNF393|"zinc_%20_finger_%20_protein_%20_393"|Zfp393_%2C__%20_FLJ40160||1p34.1|2016-06-03|2006-02-17|2016-06-03|BC049844||128209|ENSG00000171872|16460907|NM_173484|624_%7C_28|Kruppel_%20_like_%20_factors_%7C_Zinc_%20_fingers_%20_C2H2-type|CCDS508|OTTHUMG00000009664|128209|609602|NM_173484|Q5JT82|ENSG00000171872|uc001clp.4|KLF17_HUMAN||Q86VQ7_%7C_Q8N805|Q5JT82|gamete_%20_generation_%20_(GO:0007276)_%7C_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006357)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_transcription_%20_regulatory_%20_region_%20_DNA_%20_binding_%20_(GO:0044212)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.7698_%2C_0.2302_%7C_0.7698_%2C_0.2302|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|KLF17:128209_%7C_KLF17:128209|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|34057178_%7C_200059598|44596380_%7C_44596388|false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|1_%7C_0|false_%7C_false|0.857614_%2C_0.142386_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05000000000517003e000240_%7C_0x050000000005000002000200|1_%7C_1|false_%7C_false|126_%7C_137|rs34057178_%7C_rs200059598|_%7C_] +1 47080679 rs6671527 G A 1927.94 PASS FUNCOTATION=[MOB3C|hg19|chr1|47080679|47080679|NONSENSE||SNP|G|G|A|g.chr1:47080679G>A|ENST00000271139.8|-|1|127|c.70C>T|c.(70-72)Cga>Tga|p.R24*|0.5087281795511222|CCGACTCTTCGACTTCTCACC|MOB3C_ENST00000371940.1_FIVE_PRIME_UTR/MOB3C_ENST00000319928.3_INTRON/MKNK1_ENST00000545730.1_INTRON/MOB3C_ENST00000477318.1_INTRON|||||||||||||||||||||||||||||||||CH471059|NM_145279.4|NP_660322.2|HGNC:29800|MOB_%20_kinase_%20_activator_%20_3C|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MOBKL2C|"MOB1_%2C__%20_Mps_%20_One_%20_Binder_%20_kinase_%20_activator-like_%20_2C_%20_(yeast)"|MOB1E||1p33|2016-10-05|2011-09-28|2011-09-28|AK091808||148932|ENSG00000142961|12477932|NM_145279|647|MOB_%20_kinase_%20_activators|CCDS539_%2C__%20_CCDS540|OTTHUMG00000007989|148932||NM_145279|Q70IA8|ENSG00000142961|uc001cqf.4|MOB3C_HUMAN||D3DQ22_%7C_Q0VA98_%7C_Q5TC10_%7C_Q5TC11_%7C_Q8NAZ2_%7C_Q8NF28|Q70IA8|||metal_%20_ion_%20_binding_%20_(GO:0046872)||||true|false|0.3578_%2C_0.6422_%2C_.|false|false|1||false|true|false|MOB3C:148932|true|true|true|true|true|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|6671527|47080679|false|false|0|true|0|false|0.472526_%2C_0.527474_%2C_.|false|false|false|SNV|true|0x050100080e0515053f000101|1|false|116|rs6671527|] +1 47904668 rs71053113 T TCCGCAC 4677.73 PASS FUNCOTATION=[FOXD2|hg19|chr1|47904668|47904669|IN_FRAME_INS||INS|-|-|CCGCAC|g.chr1:47904668_47904669insCCGCAC|ENST00000334793.5|+|1|2980|c.861_862insCCGCAC|c.(862-864)ccg>CCGCACccg|p.287_288insPH|0.795|GGCCCCGCATCCGCACCCGC|FOXD2-AS1_ENST00000445551.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||184|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22)|||||||AL607122|NM_004474.3|NP_004465.3|HGNC:3803|forkhead_%20_box_%20_D2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FKHL17||FREAC9||1p33|2016-10-05|||AF042832||2306|ENSG00000186564|9403061_%2C__%20_12621056|NM_004474|508|Forkhead_%20_boxes|CCDS30708|OTTHUMG00000007950|2306|602211|NM_004474|O60548|ENSG00000186564|uc001crm.3|FOXD2_HUMAN||Q5SVZ3|O60548|transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.03554_%2C_0.9645_%2C_._%7C_0.03554_%2C_0.9645|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|false_%7C_false|FOXD2:2306_%7C_FOXD2:2306|false_%7C_true|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|3046924_%7C_71053113|47904668_%7C_47904686|true_%7C_true|false_%7C_false|0_%7C_0|true_%7C_true|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05010000000515003e000200_%7C_0x050100000005000102000200|1_%7C_1|false_%7C_false|102_%7C_130|rs3046924_%7C_rs71053113|_%7C_] +1 48569478 . C CTGTG 426.29 PASS FUNCOTATION=[AL109659.1|hg19|chr1|48569478|48569479|FRAME_SHIFT_INS||INS|-|-|TGTG|g.chr1:48569478_48569479insTGTG|ENST00000601108.1|+|1|173|c.173_174insTGTG|c.(172-174)tctfs|p.I65fs|0.465|GGTGTGTGTCTGTGTGTGTG||||||||||||||||||||||||||||||||||CH471059|||||||||||||||||||||||||||||||||||||||_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.9379_%2C_0.03135_%2C_0.03075_%7C_0.9379_%2C_0.03135_%2C_0.03075|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|SKINT1L:391037_%7C_SKINT1L:391037|false_%7C_false|false_%7C_false|true_%7C_true|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|373596514_%7C_879571472|48569478_%7C_48569497|false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x050000080005140026000200_%7C_0x050000080005000002000200|1_%7C_1|false_%7C_false|138_%7C_149|rs373596514_%7C_rs879571472|_%7C_] +1 48708228 rs850763 G T 386.25 PASS FUNCOTATION=[SLC5A9|hg19|chr1|48708228|48708228|NONSENSE||SNP|G|G|T|g.chr1:48708228G>T|ENST00000438567.2|+|13|1829|c.1777G>T|c.(1777-1779)Gag>Tag|p.E593*|0.5835411471321695|GCCAGCCGGGGAGTGCCCTGC|SLC5A9_ENST00000236495.5_NONSENSE_p.E618*/SLC5A9_ENST00000533824.1_NONSENSE_p.E614*/SLC5A9_ENST00000471020.1_INTRON|||||||||||||||||||||||||93|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)_%7C_salivary_gland(1)_%7C_upper_aerodigestive_tract(1)|||||||CH471059|NM_001011547.2|NP_001011547.2|HGNC:22146|solute_%20_carrier_%20_family_%20_5_%20_member_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"solute_%20_carrier_%20_family_%20_5_%20_(sodium/glucose_%20_cotransporter)_%2C__%20_member_%20_9"_%2C__%20_"solute_%20_carrier_%20_family_%20_5_%20_(sodium/sugar_%20_cotransporter)_%2C__%20_member_%20_9"|SGLT4||1p33|2016-02-17||2016-02-17|BX648549||200010|ENSG00000117834||XM_117174|752|Solute_%20_carriers|CCDS30709_%2C__%20_CCDS44136|OTTHUMG00000007959|200010||NM_001011547|Q2M3M2|ENSG00000117834|uc001crn.3|SC5A9_HUMAN||B3KY87_%7C_B7ZL45_%7C_B7ZL47_%7C_E9PAK4_%7C_E9PJ08_%7C_Q5TET3|Q2M3M2|sodium_%20_ion_%20_transport_%20_(GO:0006814)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|transporter_%20_activity_%20_(GO:0005215)||||true|false|0.8862_%2C_0.1138|false|false|1||false|true|false|SLC5A9:200010|true|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|850763|48708228|true|false|0|true|0|false|0.859228_%2C_0.140772|false|false|false|SNV|true|0x050100000605150537000100|1|false|86|rs850763|] +1 50884773 rs4027495 CCGGCGG C 1244.13 PASS FUNCOTATION=[DMRTA2|hg19|chr1|50884774|50884779|IN_FRAME_DEL||DEL|CGGCGG|CGGCGG|-|g.chr1:50884774_50884779delCGGCGG|ENST00000404795.3|-|3|1586_1591|c.1187_1192delCCGCCG|c.(1186-1194)gccgccggg>ggg|p.AA396del|0.7807881773399015|CCAGGCCCCCCGGCGGCGGCGGCGGC|DMRTA2_ENST00000418121.1_IN_FRAME_DEL_p.AA396del|Colon(196_%3B_1651_%20_2045_%20_3292_%20_36497_%20_38236)_%7C_Esophageal_%20_Squamous(2_%3B_257_%20_258_%20_11567_%20_27043_%20_43804)||||||||||||||||||||||||||||||||AL049637|NM_032110.2|NP_115486.1|HGNC:13908|DMRT_%20_like_%20_family_%20_A2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DMRT-like_%20_family_%20_A2"|||1p32.3|2016-10-05||2016-01-19|AJ301580||63950|ENSG00000142700|11863363|NM_032110|||CCDS44141|OTTHUMG00000007884|63950|614804|NM_032110|Q96SC8|ENSG00000142700|uc010onb.3|DMTA2_HUMAN||Q5TFQ3|Q96SC8|cerebral_%20_cortex_%20_regionalization_%20_(GO:0021796)_%7C_dopaminergic_%20_neuron_%20_differentiation_%20_(GO:0071542)_%7C_neuron_%20_fate_%20_specification_%20_(GO:0048665)_%7C_positive_%20_regulation_%20_of_%20_neuroblast_%20_proliferation_%20_(GO:0002052)_%7C_skeletal_%20_muscle_%20_cell_%20_differentiation_%20_(GO:0035914)|nucleus_%20_(GO:0005634)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DMRTA2:63950_%7C_DMRTA2:63950|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|761537995_%7C_4027495|50884774_%7C_50884792|false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|false_%7C_false|0x050000000005000002000200_%7C_0x050000000005000002000200|1_%7C_1|false_%7C_false|144_%7C_108|rs761537995_%7C_rs4027495|_%7C_] +1 50884775 . G *,GGCA 1910.68 PASS FUNCOTATION=[DMRTA2|hg19|chr1|50884775|50884775|COULD_NOT_DETERMINE||NA|G|G|*||ENST00000404795.3|+||||||0.7805486284289277|CAGGCCCCCCGGCGGCGGCGG|DMRTA2_ENST00000418121.1_COULD_NOT_DETERMINE|Colon(196_%3B_1651_%20_2045_%20_3292_%20_36497_%20_38236)_%7C_Esophageal_%20_Squamous(2_%3B_257_%20_258_%20_11567_%20_27043_%20_43804)||||||||||||||||||||||||||||||||AL049637|NM_032110.2|NP_115486.1|HGNC:13908|DMRT_%20_like_%20_family_%20_A2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DMRT-like_%20_family_%20_A2"|||1p32.3|2016-10-05||2016-01-19|AJ301580||63950|ENSG00000142700|11863363|NM_032110|||CCDS44141|OTTHUMG00000007884|63950|614804|NM_032110|Q96SC8|ENSG00000142700|uc010onb.3|DMTA2_HUMAN||Q5TFQ3|Q96SC8|cerebral_%20_cortex_%20_regionalization_%20_(GO:0021796)_%7C_dopaminergic_%20_neuron_%20_differentiation_%20_(GO:0071542)_%7C_neuron_%20_fate_%20_specification_%20_(GO:0048665)_%7C_positive_%20_regulation_%20_of_%20_neuroblast_%20_proliferation_%20_(GO:0002052)_%7C_skeletal_%20_muscle_%20_cell_%20_differentiation_%20_(GO:0035914)|nucleus_%20_(GO:0005634)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||],[DMRTA2|hg19|chr1|50884775|50884776|IN_FRAME_INS||INS|-|-|GCA|g.chr1:50884775_50884776insGCA|ENST00000404795.3|-|3|1584|c.1190_1191insTGC|c.(1189-1191)gcc>gcTGCc|p.397_398insA|0.78|AGGCCCCCCGGCGGCGGCGG|DMRTA2_ENST00000418121.1_IN_FRAME_INS_p.397_398insA|Colon(196_%3B_1651_%20_2045_%20_3292_%20_36497_%20_38236)_%7C_Esophageal_%20_Squamous(2_%3B_257_%20_258_%20_11567_%20_27043_%20_43804)||||||||||||||||||||||||||||||||AL049637|NM_032110.2|NP_115486.1|HGNC:13908|DMRT_%20_like_%20_family_%20_A2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DMRT-like_%20_family_%20_A2"|||1p32.3|2016-10-05||2016-01-19|AJ301580||63950|ENSG00000142700|11863363|NM_032110|||CCDS44141|OTTHUMG00000007884|63950|614804|NM_032110|Q96SC8|ENSG00000142700|uc010onb.3|DMTA2_HUMAN||Q5TFQ3|Q96SC8|cerebral_%20_cortex_%20_regionalization_%20_(GO:0021796)_%7C_dopaminergic_%20_neuron_%20_differentiation_%20_(GO:0071542)_%7C_neuron_%20_fate_%20_specification_%20_(GO:0048665)_%7C_positive_%20_regulation_%20_of_%20_neuroblast_%20_proliferation_%20_(GO:0002052)_%7C_skeletal_%20_muscle_%20_cell_%20_differentiation_%20_(GO:0035914)|nucleus_%20_(GO:0005634)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 52306063 rs35723519 ATCT A 1359.12 PASS FUNCOTATION=[NRD1|hg19|chr1|52306064|52306066|IN_FRAME_DEL||DEL|TCT|TCT|-|g.chr1:52306064_52306066delTCT|ENST00000354831.7|-|2|655_657|c.462_464delAGA|c.(460-465)gaagat>gat|p.E154del|0.36476426799007444|TTCATCATCATCTTCTTCTTCTT|NRD1_ENST00000352171.7_IN_FRAME_DEL_p.E154del/NRD1_ENST00000539524.1_IN_FRAME_DEL_p.E22del/NRD1_ENST00000544028.1_IN_FRAME_DEL_p.E22del/NRD1_ENST00000485608.1_INTRON/MIR761_ENST00000390787.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||2178|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(2088)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_002525.2|NP_002516.2||||||||||||||||||||||||||||||NRDC_HUMAN||A6NI41_%7C_O15241_%7C_O15242_%7C_Q5VUL0_%7C_Q96HB2_%7C_Q9NU57|O43847|cell_%20_migration_%20_(GO:0016477)_%7C_cell_%20_proliferation_%20_(GO:0008283)_%7C_neuromuscular_%20_junction_%20_development_%20_(GO:0007528)_%7C_positive_%20_regulation_%20_of_%20_membrane_%20_protein_%20_ectodomain_%20_proteolysis_%20_(GO:0051044)_%7C_proteolysis_%20_(GO:0006508)_%7C_regulation_%20_of_%20_endopeptidase_%20_activity_%20_(GO:0052548)|cell_%20_surface_%20_(GO:0009986)_%7C_cytosol_%20_(GO:0005829)|epidermal_%20_growth_%20_factor_%20_binding_%20_(GO:0048408)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_metalloendopeptidase_%20_activity_%20_(GO:0004222)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.4383_%2C_0.5617_%7C_0.4383_%2C_0.5617|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|NRD1:4898_%7C_NRDC:4898_%7C_NRD1:4898_%7C_NRDC:4898|false_%7C_true|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|35723519_%7C_60220085|52306064_%7C_52306075|false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_true|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05000000000517003e000200_%7C_0x050100000005000102000200|1_%7C_1|false_%7C_false|126_%7C_129|rs35723519_%7C_rs60220085|_%7C_] +1 53925373 . G GCCGCCC 637.29 PASS FUNCOTATION=[DMRTB1|hg19|chr1|53925373|53925374|IN_FRAME_INS||INS|-|-|CCGCCC|g.chr1:53925373_53925374insCCGCCC|ENST00000371445.3|+|1|302|c.247_248insCCGCCC|c.(247-249)gcc>gCCGCCCcc|p.83_84insAP|0.7475|GCTGCGGCCGCCGCCCCCGC|DMRTB1_ENST00000463126.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_033067.1|NP_149056.1|HGNC:13913|DMRT_%20_like_%20_family_%20_B_%20_with_%20_proline_%20_rich_%20_C-terminal_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"DMRT-like_%20_family_%20_B_%20_with_%20_proline-rich_%20_C-terminal_%2C__%20_1"|||1p32.3|2016-10-05||2015-11-23|AJ291671||63948|ENSG00000143006|||||CCDS581|OTTHUMG00000008080|63948|614805|NM_033067|Q96MA1|ENSG00000143006|uc001cvq.2|DMRTB_HUMAN||Q96SD2|Q96MA1|transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|nucleus_%20_(GO:0005634)|metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.8926_%2C_0.1074_%7C_0.8926_%2C_0.1074|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|false_%7C_false|DMRTB1:63948_%7C_DMRTB1:63948|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|575081928_%7C_766482978|53925373_%7C_53925379|false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x050000000005150026000200_%7C_0x050000000005000002000200|1_%7C_1|false_%7C_false|142_%7C_144|rs575081928_%7C_rs766482978|_%7C_] +1 55182300 rs1147990 T A 2208.94 PASS FUNCOTATION=[TTC4|hg19|chr1|55182300|55182300|MISSENSE||SNP|T|T|A|g.chr1:55182300T>A|ENST00000371281.3|+|2|226|c.139T>A|c.(139-141)Tcg>Acg|p.S47T|0.3915211970074813|CCTATTTATGTCGAGAGCGCC|TTC4_ENST00000371284.5_INTRON/MROH7-TTC4_ENST00000414150.2_NONSENSE_p.C1282*|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471059|NM_004623.4|NP_004614.3|HGNC:12394|tetratricopeptide_%20_repeat_%20_domain_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||MGC5097_%2C__%20_FLJ41930_%2C__%20_CNS1||1p32.3|2017-05-19|||||7268|ENSG00000243725|9933562|NM_004623|769|Tetratricopeptide_%20_repeat_%20_domain_%20_containing|CCDS596|OTTHUMG00000009914|7268|606753|NM_001291333|O95801|ENSG00000243725|uc001cxx.5|TTC4_HUMAN||Q53Y95_%7C_Q5TA96_%7C_Q9H3I2|O95801|||||||true|false|0.3317_%2C_0.6683|false|false|1||false|true|false|TTC4:7268_%7C_MROH7-TTC4:100527960|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|false|true|1147990|55182300|true|false|0|true|0|false|0.448314_%2C_0.551686|false|false|false|SNV|true|0x050128000a0515053f000101|1|false|87|rs1147990|] +1 55505552 rs113330492 A ACTG 1612.14 PASS FUNCOTATION=[PCSK9|hg19|chr1|55505552|55505553|IN_FRAME_INS||INS|-|-|CTG|g.chr1:55505552_55505553insCTG|ENST00000302118.5|+|1|332|c.42_43insCTG|c.(43-45)ctg>CTGctg|p.14_15insL|0.7075|GCCGCTGCCACTGCTGCTGC|PCSK9_ENST00000452118.2_IN_FRAME_INS_p.14_15insL/PCSK9_ENST00000543384.1_FIVE_PRIME_FLANK|Pancreas(137_%3B_1454_%20_1827_%20_5886_%20_22361_%20_42375)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||FJ525880|NM_174936.3|NP_777596.2|HGNC:20001|proprotein_%20_convertase_%20_subtilisin/kexin_%20_type_%20_9|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HCHOLA3|"hypercholesterolemia_%2C__%20_autosomal_%20_dominant_%20_3"|NARC-1_%2C__%20_FH3||1p32.3|2017-03-24||2003-05-13|AX207686||255738|ENSG00000169174|12552133_%2C__%20_12730697|NM_174936|973|Proprotein_%20_convertase_%20_subtilisin/kexin_%20_family|CCDS603|OTTHUMG00000008136|255738|607786|NM_174936|Q8NBP7|ENSG00000169174|uc001cyf.3|PCSK9_HUMAN||A8T640_%7C_C0JYY9_%7C_Q5PSM5_%7C_Q5SZQ2|Q8NBP7|apoptotic_%20_process_%20_(GO:0006915)_%7C_cellular_%20_response_%20_to_%20_insulin_%20_stimulus_%20_(GO:0032869)_%7C_cellular_%20_response_%20_to_%20_starvation_%20_(GO:0009267)_%7C_cholesterol_%20_homeostasis_%20_(GO:0042632)_%7C_cholesterol_%20_metabolic_%20_process_%20_(GO:0008203)_%7C_kidney_%20_development_%20_(GO:0001822)_%7C_lipoprotein_%20_metabolic_%20_process_%20_(GO:0042157)_%7C_liver_%20_development_%20_(GO:0001889)_%7C_low-density_%20_lipoprotein_%20_particle_%20_receptor_%20_catabolic_%20_process_%20_(GO:0032802)_%7C_lysosomal_%20_transport_%20_(GO:0007041)_%7C_negative_%20_regulation_%20_of_%20_low-density_%20_lipoprotein_%20_particle_%20_clearance_%20_(GO:0010989)_%7C_negative_%20_regulation_%20_of_%20_receptor_%20_recycling_%20_(GO:0001920)_%7C_neurogenesis_%20_(GO:0022008)_%7C_neuron_%20_differentiation_%20_(GO:0030182)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043525)_%7C_positive_%20_regulation_%20_of_%20_receptor_%20_internalization_%20_(GO:0002092)_%7C_protein_%20_autoprocessing_%20_(GO:0016540)_%7C_proteolysis_%20_(GO:0006508)_%7C_regulation_%20_of_%20_low-density_%20_lipoprotein_%20_particle_%20_receptor_%20_catabolic_%20_process_%20_(GO:0032803)_%7C_regulation_%20_of_%20_neuron_%20_apoptotic_%20_process_%20_(GO:0043523)_%7C_regulation_%20_of_%20_receptor_%20_activity_%20_(GO:0010469)_%7C_triglyceride_%20_metabolic_%20_process_%20_(GO:0006641)|cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_early_%20_endosome_%20_(GO:0005769)_%7C_endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_ER_%20_to_%20_Golgi_%20_transport_%20_vesicle_%20_(GO:0030134)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extrinsic_%20_component_%20_of_%20_external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0031232)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_lysosome_%20_(GO:0005764)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_rough_%20_endoplasmic_%20_reticulum_%20_(GO:0005791)|apolipoprotein_%20_binding_%20_(GO:0034185)_%7C_apolipoprotein_%20_receptor_%20_binding_%20_(GO:0034190)_%7C_low-density_%20_lipoprotein_%20_particle_%20_binding_%20_(GO:0030169)_%7C_low-density_%20_lipoprotein_%20_particle_%20_receptor_%20_binding_%20_(GO:0050750)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_protein_%20_self-association_%20_(GO:0043621)_%7C_serine-type_%20_endopeptidase_%20_activity_%20_(GO:0004252)_%7C_sodium_%20_channel_%20_inhibitor_%20_activity_%20_(GO:0019871)_%7C_very-low-density_%20_lipoprotein_%20_particle_%20_binding_%20_(GO:0034189)_%7C_very-low-density_%20_lipoprotein_%20_particle_%20_receptor_%20_binding_%20_(GO:0070326)|_%7C__%7C_|_%7C__%7C_|_%7C__%7C_|true_%7C_true_%7C_true|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|_%7C__%7C_|false_%7C_false_%7C_false|true_%7C_false_%7C_false|true_%7C_false_%7C_false|PCSK9:255738_%7C_PCSK9:255738_%7C_PCSK9:255738|true_%7C_true_%7C_true|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_true|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_true|false_%7C_false_%7C_true|false_%7C_false_%7C_false|true_%7C_true_%7C_true|false_%7C_false_%7C_false|45454392_%7C_113330492_%7C_35574083|55505554_%7C_55505563_%7C_55505575|false_%7C_false_%7C_false|false_%7C_false_%7C_false|0_%7C_0_%7C_1|false_%7C_true_%7C_true|0_%7C_0_%7C_0|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|DIV_%7C_DIV_%7C_DIV|true_%7C_false_%7C_true|0x050000020005070102000200_%7C_0x050100020005000102000200_%7C_0x050168020005040102100200|1_%7C_1_%7C_1|false_%7C_false_%7C_false|127_%7C_132_%7C_126|rs45454392_%7C_rs113330492_%7C_rs35574083|_%7C__%7C_] +1 100327026 rs2307129 C T 595.25 PASS FUNCOTATION=[AGL|hg19|chr1|100327026|100327026|INTRON||SNP|C|C|T|g.chr1:100327026C>T|ENST00000294724.4|+|||c.e3-33C>T|||0.32418952618453867|TTAAGTCCTACGATGAGTTTA|AGL_ENST00000361915.3_INTRON/AGL_ENST00000370163.3_INTRON/AGL_ENST00000370165.3_INTRON/AGL_ENST00000361522.4_DE_NOVO_START_IN_FRAME/AGL_ENST00000361302.3_INTRON/AGL_ENST00000370161.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U84011|NM_000028.2|NP_000019.2|HGNC:321|amylo-alpha-1_%2C__%20_6-glucosidase_%2C__%20_4-alpha-glucanotransferase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"amylo-1_%2C__%20_6-glucosidase_%2C__%20_4-alpha-glucanotransferase"||"glycogen_%20_debranching_%20_enzyme"_%2C__%20_"glycogen_%20_storage_%20_disease_%20_type_%20_III"|1p21.2|2016-10-05||2010-04-27|BC078663|2.4.1.25_%2C__%20_3.2.1.33|178|ENSG00000162688|1505983|NM_000028|||CCDS759_%2C__%20_CCDS760|OTTHUMG00000010803|178|610860|NM_000028|P35573|ENSG00000162688|uc001dsi.2|GDE_HUMAN||A6NCX7_%7C_A6NEK2_%7C_D3DT51_%7C_P78354_%7C_P78544_%7C_Q59H92_%7C_Q6AZ90_%7C_Q9UF08|P35573|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_glucose_%20_metabolic_%20_process_%20_(GO:0006006)_%7C_glycogen_%20_biosynthetic_%20_process_%20_(GO:0005978)_%7C_glycogen_%20_catabolic_%20_process_%20_(GO:0005980)_%7C_response_%20_to_%20_glucocorticoid_%20_(GO:0051384)_%7C_response_%20_to_%20_nutrient_%20_(GO:0007584)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_inclusion_%20_body_%20_(GO:0016234)_%7C_isoamylase_%20_complex_%20_(GO:0043033)_%7C_nucleus_%20_(GO:0005634)_%7C_sarcoplasmic_%20_reticulum_%20_(GO:0016529)|4-alpha-glucanotransferase_%20_activity_%20_(GO:0004134)_%7C_amylo-alpha-1_%2C_6-glucosidase_%20_activity_%20_(GO:0004135)_%7C_glycogen_%20_debranching_%20_enzyme_%20_activity_%20_(GO:0004133)_%7C_polysaccharide_%20_binding_%20_(GO:0030247)||||true|false|0.7728_%2C_0.2272|false|false|1||false|true|true|AGL:178|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|2307129|100327026|true|false|0|true|0|false|0.729068_%2C_0.270932|false|false|true|SNV|true|0x05012848000517053f000100|1|false|100|rs2307129|] +1 104293194 . C T 36.34 PASS FUNCOTATION=[AMY1C|hg19|chr1|104293194|104293194|NONSENSE||SNP|C|C|T|g.chr1:104293194C>T|ENST00000370079.3|+|1|167|c.103C>T|c.(103-105)Cga>Tga|p.R35*|0.3740648379052369|GTTTGAATGGCGATGGGTTGA||||||||||||||||||||||||||||||||||M19233|NM_001008219.1|NP_001008220.1|HGNC:476|amylase_%2C__%20_alpha_%20_1C_%20_(salivary)|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|AMY1|"amylase_%2C__%20_alpha_%20_1C_%3B__%20_salivary"|||1p21.1|2016-10-05||2007-05-03||3.2.1.1|278|ENSG00000187733||NM_001008219|||CCDS30784|OTTHUMG00000011045|278|104702|NM_001008219|P04745|ENSG00000187733|uc057itq.1|AMY1_HUMAN||A6NJS5_%7C_A8K8H6_%7C_Q13763_%7C_Q5T083|P04745|carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_digestion_%20_(GO:0007586)|extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|alpha-amylase_%20_activity_%20_(GO:0004556)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)||||true|false||false|false|||false|false|false|AMY1C:278|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|938886200|104293194|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|false|0x050000000605000002000100|1|false|150|rs938886200|] +1 112162775 rs113172457 C T 995.10 PASS FUNCOTATION=[RAP1A|hg19|chr1|112162775|112162775|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:112162775C>T|ENST00000545460.1|+|1|||||0.7206982543640897|GAGCCAACCACGCCCGCGGAC|RAP1A_ENST00000369709.3_INTRON/RAP1A_ENST00000356415.1_INTRON/RAP1A_ENST00000436150.2_INTRON|||||||||||||||||||||||||803|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(323)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||X12533|||HGNC:9855|RAP1A_%2C__%20_member_%20_of_%20_RAS_%20_oncogene_%20_family|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||KREV-1_%2C__%20_SMGP21||1p13.2|2016-10-05|||BC014086||5906|ENSG00000116473|3143720|NM_002884|389|RAS_%20_type_%20_GTPase_%20_family|CCDS840|OTTHUMG00000011959|5906|179520|NM_001010935|P62834|ENSG00000116473|uc001ebi.4|RAP1A_HUMAN||P10113|P62834|activation_%20_of_%20_MAPKK_%20_activity_%20_(GO:0000186)_%7C_blood_%20_coagulation_%20_(GO:0007596)_%7C_cellular_%20_response_%20_to_%20_cAMP_%20_(GO:0071320)_%7C_cellular_%20_response_%20_to_%20_nerve_%20_growth_%20_factor_%20_stimulus_%20_(GO:1990090)_%7C_energy_%20_reserve_%20_metabolic_%20_process_%20_(GO:0006112)_%7C_establishment_%20_of_%20_endothelial_%20_barrier_%20_(GO:0061028)_%7C_negative_%20_regulation_%20_of_%20_synaptic_%20_vesicle_%20_exocytosis_%20_(GO:2000301)_%7C_nerve_%20_growth_%20_factor_%20_signaling_%20_pathway_%20_(GO:0038180)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_projection_%20_development_%20_(GO:0010976)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0045860)_%7C_positive_%20_regulation_%20_of_%20_Rap_%20_GTPase_%20_activity_%20_(GO:0032854)_%7C_positive_%20_regulation_%20_of_%20_vasculogenesis_%20_(GO:2001214)_%7C_protein_%20_transport_%20_(GO:0015031)_%7C_Rap_%20_protein_%20_signal_%20_transduction_%20_(GO:0032486)_%7C_regulation_%20_of_%20_cell_%20_junction_%20_assembly_%20_(GO:1901888)_%7C_regulation_%20_of_%20_insulin_%20_secretion_%20_(GO:0050796)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|cell_%20_junction_%20_(GO:0030054)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_early_%20_endosome_%20_(GO:0005769)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_guanyl-nucleotide_%20_exchange_%20_factor_%20_complex_%20_(GO:0032045)_%7C_late_%20_endosome_%20_(GO:0005770)_%7C_neuron_%20_projection_%20_(GO:0043005)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_plasma_%20_membrane_%20_(GO:0005886)|GTP_%20_binding_%20_(GO:0005525)_%7C_GTPase_%20_activity_%20_(GO:0003924)_%7C_protein_%20_complex_%20_binding_%20_(GO:0032403)_%7C_protein_%20_transporter_%20_activity_%20_(GO:0008565)_%7C_Rap_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0017034)||||true|false|0.8762_%2C_0.1238|false|false|1||false|true|false|RAP1A:5906|false|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|113172457|112162775|false|false|0|true|0|false|0.89546_%2C_0.10454|false|false|true|SNV|true|0x050100480005150036000100|1|false|132|rs113172457|] +1 114447565 rs1217397 G A 1432.91 PASS FUNCOTATION=[AP4B1|hg19|chr1|114447565|114447565|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:114447565G>A|ENST00000369569.1|-|1|||||0.6309226932668329|AGGCCCTACCGTCGGCCGGCA|AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME/DCLRE1B_ENST00000369563.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369566.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369567.1_FIVE_PRIME_FLANK/DCLRE1B_ENST00000466480.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC014146|NM_001253852.1|NP_001240781.1|HGNC:572|adaptor_%20_related_%20_protein_%20_complex_%20_4_%20_beta_%20_1_%20_subunit|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SPG47|"spastic_%20_paraplegia_%20_47"_%2C__%20_"adaptor-related_%20_protein_%20_complex_%20_4_%2C__%20_beta_%20_1_%20_subunit"|BETA-4|"beta_%20_4_%20_subunit_%20_of_%20_AP-4"_%2C__%20_"AP-4_%20_complex_%20_subunit_%20_beta-1"|1p13.2|2016-01-19||2016-01-12|AF092094||10717|ENSG00000134262|10066790|NM_006594|||CCDS865_%2C__%20_CCDS76192|OTTHUMG00000011943|10717|607245|NM_001253852|Q9Y6B7|ENSG00000134262|uc001eed.4|AP4B1_HUMAN||B7Z4X3_%7C_Q59EJ4_%7C_Q96CL6|Q9Y6B7|intracellular_%20_protein_%20_transport_%20_(GO:0006886)_%7C_vesicle-mediated_%20_transport_%20_(GO:0016192)|clathrin_%20_adaptor_%20_complex_%20_(GO:0030131)_%7C_coated_%20_pit_%20_(GO:0005905)_%7C_trans-Golgi_%20_network_%20_(GO:0005802)|protein_%20_transporter_%20_activity_%20_(GO:0008565)_%7C_transporter_%20_activity_%20_(GO:0005215)||||true|false|0.6705_%2C_0.3295|false|false|1||false|true|false|DCLRE1B:64858_%7C_AP4B1:10717|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1217397|114447565|true|false|0|true|0|false|0.586304_%2C_0.413696|false|false|true|SNV|true|0x0501004a000515053f000101|1|false|87|rs1217397|] +1 144364205 . G A 302.26 PASS FUNCOTATION=[PPIAL4B|hg19|chr1|144364205|144364205|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:144364205G>A|ENST00000540273.1|-|1|||||0.4114713216957606|TGATGGTGGCGTCTGCAAAGA|AL592284.1_ENST00000538264.1_INTRON|||||||||||||||||||||||||||||||||BX248398|NM_001143883.2|NP_001137355.1||||||||||||||||||||||||||||||PAL4A_HUMAN|||Q9Y536|protein_%20_folding_%20_(GO:0006457)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|peptidyl-prolyl_%20_cis-trans_%20_isomerase_%20_activity_%20_(GO:0003755)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +1 144864277 . G A 487.26 PASS FUNCOTATION=[PDE4DIP|hg19|chr1|144864277|144864277|NONSENSE||SNP|G|G|A|g.chr1:144864277G>A|ENST00000530740.1|-|38|6112|c.6073C>T|c.(6073-6075)Cga>Tga|p.R2025*|0.5211970074812967|AGGTGGGATCGAGAGGACAGC|PDE4DIP_ENST00000369359.4_NONSENSE_p.R2076*/PDE4DIP_ENST00000369356.4_NONSENSE_p.R1940*/PDE4DIP_ENST00000369354.3_NONSENSE_p.R1940*/PDE4DIP_ENST00000313382.9_NONSENSE_p.R1834*/RP4-791M13.4_ENST00000532137.1_RNA/PDE4DIP_ENST00000524974.1_INTRON||phosphodiesterase_%20_4D_%20_interacting_%20_protein_%20_(myomegalin)|9659|1|1q12|yes||MPD|||L|Dom|T|PDGFRB|||||||||||945|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(136)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_stomach(121)_%7C_upper_aerodigestive_tract(120)|||||||AL590452|||HGNC:15580|phosphodiesterase_%20_4D_%20_interacting_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CMYA2|"cardiomyopathy_%20_associated_%20_2"|KIAA0477_%2C__%20_KIAA0454_%2C__%20_MMGL|"myomegalin"|1q21.2|2016-10-05||2008-07-31|AB007923_%2C__%20_AB007946||9659|ENSG00000178104|9455484_%2C__%20_11134006|NM_022359|||CCDS72887_%2C__%20_CCDS72888_%2C__%20_CCDS72889_%2C__%20_CCDS72890_%2C__%20_CCDS72891_%2C__%20_CCDS72892_%2C__%20_CCDS72893_%2C__%20_CCDS72894|OTTHUMG00000013846|9659|608117|NM_001002810|Q5VU43|ENSG00000178104|uc031uvq.2|MYOME_HUMAN||A2RU15_%7C_O75042_%7C_O75065_%7C_Q2YDC1_%7C_Q5VU42_%7C_Q5VU44_%7C_Q5VU45_%7C_Q5VU46_%7C_Q5VU47_%7C_Q5VU48_%7C_Q5VU49_%7C_Q68DU2_%7C_Q6AZ93_%7C_Q6PK88_%7C_Q86T40_%7C_Q86TB2_%7C_Q8N3W0_%7C_Q8TAY9_%7C_Q9HCP2_%7C_Q9HCP3_%7C_Q9HCP4_%7C_Q9HCP5|Q5VU43|cellular_%20_protein_%20_complex_%20_assembly_%20_(GO:0043623)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_myofibril_%20_(GO:0030016)_%7C_nucleus_%20_(GO:0005634)|enzyme_%20_binding_%20_(GO:0019899)||||true|false||false|false|||false|false|false|PDE4DIP:9659|false|true|false|false|false|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|139257887|144864277|false|false|0|true|0|false||false|false|false|SNV|true|0x050100000e05040402000100|1|false|134|rs139257887|] +1 144916676 . C T 171.25 PASS FUNCOTATION=[PDE4DIP|hg19|chr1|144916676|144916676|NONSENSE||SNP|C|C|T|g.chr1:144916676C>T|ENST00000530740.1|-|16|2129|c.2090G>A|c.(2089-2091)tGg>tAg|p.W697*|0.40399002493765584|TTCTTTCAGCCACTGGAGGTT|PDE4DIP_ENST00000479408.2_NONSENSE_p.W347*/PDE4DIP_ENST00000313431.9_NONSENSE_p.W723*/PDE4DIP_ENST00000529945.1_NONSENSE_p.W723*/PDE4DIP_ENST00000369359.4_NONSENSE_p.W697*/PDE4DIP_ENST00000369356.4_NONSENSE_p.W560*/PDE4DIP_ENST00000369354.3_NONSENSE_p.W560*/PDE4DIP_ENST00000313382.9_NONSENSE_p.W626*/PDE4DIP_ENST00000369351.3_NONSENSE_p.W560*/PDE4DIP_ENST00000369349.3_NONSENSE_p.W560*||phosphodiesterase_%20_4D_%20_interacting_%20_protein_%20_(myomegalin)|9659|1|1q12|yes||MPD|||L|Dom|T|PDGFRB|||||||||||945|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(136)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_stomach(121)_%7C_upper_aerodigestive_tract(120)|||||||AL590452|||HGNC:15580|phosphodiesterase_%20_4D_%20_interacting_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CMYA2|"cardiomyopathy_%20_associated_%20_2"|KIAA0477_%2C__%20_KIAA0454_%2C__%20_MMGL|"myomegalin"|1q21.2|2016-10-05||2008-07-31|AB007923_%2C__%20_AB007946||9659|ENSG00000178104|9455484_%2C__%20_11134006|NM_022359|||CCDS72887_%2C__%20_CCDS72888_%2C__%20_CCDS72889_%2C__%20_CCDS72890_%2C__%20_CCDS72891_%2C__%20_CCDS72892_%2C__%20_CCDS72893_%2C__%20_CCDS72894|OTTHUMG00000013846|9659|608117|NM_001002810|Q5VU43|ENSG00000178104|uc031uvq.2|MYOME_HUMAN||A2RU15_%7C_O75042_%7C_O75065_%7C_Q2YDC1_%7C_Q5VU42_%7C_Q5VU44_%7C_Q5VU45_%7C_Q5VU46_%7C_Q5VU47_%7C_Q5VU48_%7C_Q5VU49_%7C_Q68DU2_%7C_Q6AZ93_%7C_Q6PK88_%7C_Q86T40_%7C_Q86TB2_%7C_Q8N3W0_%7C_Q8TAY9_%7C_Q9HCP2_%7C_Q9HCP3_%7C_Q9HCP4_%7C_Q9HCP5|Q5VU43|cellular_%20_protein_%20_complex_%20_assembly_%20_(GO:0043623)|centrosome_%20_(GO:0005813)_%7C_cytoplasm_%20_(GO:0005737)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_myofibril_%20_(GO:0030016)_%7C_nucleus_%20_(GO:0005634)|enzyme_%20_binding_%20_(GO:0019899)||||true|false||false|false|||false|true|true|PDE4DIP:9659|true|false|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|1698683|144916676|true|true|0|true|0|false||false|false|false|SNV|true|0x050300000605070116000100|1|false|89|rs1698683|] +1 145273366 rs140871032 C T 452.25 PASS FUNCOTATION=[NOTCH2NL|hg19|chr1|145273366|145273366|NONSENSE||SNP|C|C|T|g.chr1:145273366C>T|ENST00000369340.3|+|4|664|c.220C>T|c.(220-222)Cga>Tga|p.R74*|0.49875311720698257|CTTTGTGTCTCGACCTTGCCT|NOTCH2NL_ENST00000362074.6_NONSENSE_p.R74*/NOTCH2NL_ENST00000344859.3_NONSENSE_p.R74*/RP11-458D21.5_ENST00000468030.1_NONSENSE_p.R74*|||||||||||||||||||||||||242|breast(11)_%7C_kidney(1)_%7C_large_intestine(11)_%7C_lung(188)_%7C_skin(31)|||||||BX537434|||HGNC:31862|notch_%20_2_%20_N-terminal_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Notch_%20_homolog_%20_2_%20_(Drosophila)_%20_N-terminal_%20_like"|N2N||1q21.1|2016-10-05||2010-06-24|||388677|ENSG00000264343|14673143|NM_203458|||CCDS72880|OTTHUMG00000013754|388677||NM_203458|Q7Z3S9|ENSG00000264343|uc031uty.2|NT2NL_HUMAN||Q5BKT8_%7C_Q5VTG9_%7C_Q5XG84_%7C_Q6P192_%7C_Q8NC23_%7C_Q8WUQ9_%7C_Q96FY1|Q7Z3S9|cell_%20_differentiation_%20_(GO:0030154)_%7C_multicellular_%20_organismal_%20_development_%20_(GO:0007275)_%7C_Notch_%20_signaling_%20_pathway_%20_(GO:0007219)|cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_region_%20_(GO:0005576)|calcium_%20_ion_%20_binding_%20_(GO:0005509)||||true|false||false|false|||false|true|false|NOTCH2NL:388677|false|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|140871032|145273366|false|true|0|true|0|false||false|false|false|SNV|true|0x050300000e05050002000100|1|false|134|rs140871032|] +1 151736876 rs1568485 C T 956.10 PASS FUNCOTATION=[OAZ3|hg19|chr1|151736876|151736876|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:151736876C>T|ENST00000479764.1|+|1|||||0.4239401496259352|TTTCCTCTTACGTATCCAAAG|OAZ3_ENST00000453029.2_INTRON/OAZ3_ENST00000321531.5_INTRON/OAZ3_ENST00000315067.8_INTRON/MRPL9_ENST00000368829.3_FIVE_PRIME_FLANK/MRPL9_ENST00000368830.3_FIVE_PRIME_FLANK/OAZ3_ENST00000400999.1_FIVE_PRIME_FLANK/RP11-98D18.3_ENST00000512280.1_RNA/RP11-98D18.2_ENST00000420382.1_FIVE_PRIME_FLANK/MRPL9_ENST00000467306.1_FIVE_PRIME_FLANK/OAZ3_ENST00000577465.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||AL589765|||HGNC:8097|ornithine_%20_decarboxylase_%20_antizyme_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||1q21.3|2014-11-19|||AF175296||51686|ENSG00000143450|10781085|NM_016178|||CCDS58028_%2C__%20_CCDS76216_%2C__%20_CCDS81378|OTTHUMG00000013061|51686|605138|NM_001134939|Q9UMX2|ENSG00000143450|uc010pdl.4|OAZ3_HUMAN|L-Ornithine(DB00129)|E7EUE7_%7C_Q6GMR0|Q9UMX2|cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_negative_%20_regulation_%20_of_%20_catalytic_%20_activity_%20_(GO:0043086)_%7C_negative_%20_regulation_%20_of_%20_polyamine_%20_transmembrane_%20_transport_%20_(GO:1902268)_%7C_polyamine_%20_biosynthetic_%20_process_%20_(GO:0006596)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_catabolic_%20_process_%20_(GO:0045732)_%7C_putrescine_%20_transport_%20_(GO:0015847)_%7C_regulation_%20_of_%20_cellular_%20_amino_%20_acid_%20_metabolic_%20_process_%20_(GO:0006521)_%7C_regulation_%20_of_%20_phosphoprotein_%20_phosphatase_%20_activity_%20_(GO:0043666)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_spermatogenesis_%20_(GO:0007283)|blood_%20_microparticle_%20_(GO:0072562)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleus_%20_(GO:0005634)_%7C_sperm_%20_flagellum_%20_(GO:0036126)|ornithine_%20_decarboxylase_%20_inhibitor_%20_activity_%20_(GO:0008073)_%7C_putrescine_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015489)||||true|false|0.2428_%2C_0.7572|false|false|1||false|true|false|OAZ3:51686_%7C_MRPL9:65005|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1568485|151736876|false|false|0|true|0|false|0.335394_%2C_0.664606|false|false|false|SNV|true|0x0501000a000515053f000100|1|false|88|rs1568485|] +1 152195728 rs34061715 AT A 2639.69 PASS FUNCOTATION=[HRNR|hg19|chr1|152195729|152195729|START_CODON_DEL||DEL|T|T|-|g.chr1:152195729delT|ENST00000368801.2|-|2|78|c.1delA|||0.3640897755610973|AGTTTAGGCATTTTTTTTTTT|FLG-AS1_ENST00000420707.1_RNA/FLG-AS1_ENST00000593011.1_RNA|||||||||||||||||||||||||94|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(4)_%7C_pancreas(22)|||||||BR000036|NM_001009931.2|NP_001009931.1|HGNC:20846|hornerin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||S100a18_%2C__%20_S100A16_%2C__%20_FLG3|"filaggrin_%20_family_%20_member_%20_3"|1q21.3|2015-09-07|||AB104446||388697|ENSG00000197915||XM_373868|1350_%7C_863|S100_%20_fused_%20_type_%20_protein_%20_family_%7C_EF-hand_%20_domain_%20_containing|CCDS30859|OTTHUMG00000012243|388697|616293|NM_001009931|Q86YZ3|ENSG00000197915|uc001ezt.3|HORN_HUMAN||Q5DT20_%7C_Q5U1F4|Q86YZ3|establishment_%20_of_%20_skin_%20_barrier_%20_(GO:0061436)_%7C_hematopoietic_%20_progenitor_%20_cell_%20_differentiation_%20_(GO:0002244)_%7C_keratinization_%20_(GO:0031424)|cornified_%20_envelope_%20_(GO:0001533)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_nucleus_%20_(GO:0005634)|calcium_%20_ion_%20_binding_%20_(GO:0005509)|_%7C__%7C_|_%7C__%7C_|_%7C__%7C_|true_%7C_true_%7C_true|false_%7C_false_%7C_false|0.07648_%2C_0.874_%7C_0.07648_%2C_0.874_%7C_0.07648_%2C_0.874|false_%7C_false_%7C_false|false_%7C_false_%7C_false|1_%7C_1_%7C_1|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_true_%7C_false|false_%7C_false_%7C_false|HRNR:388697_%7C_HRNR:388697_%7C_HRNR:388697|true_%7C_false_%7C_true|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_true_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|true_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|true_%7C_false_%7C_false|34061715_%7C_530205886_%7C_397824794|152195729_%7C_152195730_%7C_152195739|false_%7C_false_%7C_false|false_%7C_false_%7C_false|0_%7C_0_%7C_0|true_%7C_false_%7C_true|0_%7C_0_%7C_0|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_true_%7C_true|DIV_%7C_DIV_%7C_DIV|false_%7C_true_%7C_false|0x050100001205000102000200_%7C_0x050000400005150024000200_%7C_0x050100400005000102000200|1_%7C_1_%7C_1|false_%7C_false_%7C_false|134_%7C_142_%7C_138|rs34061715_%7C_rs530205886_%7C_rs397824794|_%7C__%7C_] +1 152770613 rs41268500 T G 414.25 PASS FUNCOTATION=[LCE1D|hg19|chr1|152770613|152770613|NONSTOP||SNP|T|T|G|g.chr1:152770613T>G|ENST00000326233.6|+|2|386|c.343T>G|c.(343-345)Tga>Gga|p.*115G|0.5960099750623441|AGGCTGCTGCTGAAGTGGACC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||AL353779|NM_178352.2|NP_848129.1|HGNC:29465|late_%20_cornified_%20_envelope_%20_1D|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||LEP4||1q21.3|2015-09-03|||||353134|ENSG00000172155|11698679|NM_178352|627|Late_%20_cornified_%20_envelope_%20_proteins|CCDS1025|OTTHUMG00000012444|353134|612606|NM_178352|Q5T752|ENSG00000172155|uc009wnp.3|LCE1D_HUMAN|||Q5T752|cellular_%20_response_%20_to_%20_calcium_%20_ion_%20_(GO:0071277)_%7C_cognition_%20_(GO:0050890)_%7C_keratinization_%20_(GO:0031424)|cornified_%20_envelope_%20_(GO:0001533)_%7C_cytoplasm_%20_(GO:0005737)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)|||||true|false|0.9419_%2C_0.05811|false|false|1||false|true|false|LCE1D:353134|false|false|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|41268500|152770613|false|false|0|true|0|false||false|false|false|SNV|true|0x050128000205150036000100|1|false|127|rs41268500|] +1 156124223 . T TG 479.29 PASS FUNCOTATION=[SEMA4A|hg19|chr1|156124223|156124224|FIVE_PRIME_UTR||INS|-|-|G|g.chr1:156124223_156124224insG|ENST00000368282.1|+|1|||||0.585|CTGCCCCAATGCCCCACCCC|SEMA4A_ENST00000368285.3_INTRON/SEMA4A_ENST00000355014.2_INTRON/SEMA4A_ENST00000368284.1_INTRON/SEMA4A_ENST00000368286.2_INTRON/SEMA4A_ENST00000487358.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||BC020974|||HGNC:10729|semaphorin_%20_4A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|SEMAB|"sema_%20_domain_%2C__%20_immunoglobulin_%20_domain_%20_(Ig)_%2C__%20_transmembrane_%20_domain_%20_(TM)_%20_and_%20_short_%20_cytoplasmic_%20_domain_%2C__%20_(semaphorin)_%20_4A"|SemB_%2C__%20_FLJ12287_%2C__%20_CORD10||1q22|2016-01-14||2016-01-14|AK022416||64218|ENSG00000196189|7748561|NM_022367|736|Semaphorins|CCDS1132_%2C__%20_CCDS53378|OTTHUMG00000014042|64218|607292|NM_001193300|Q9H3S1|ENSG00000196189|uc001fnl.4|SEM4A_HUMAN||B2RDH8_%7C_B3KR76_%7C_Q5TCI5_%7C_Q5TCJ6_%7C_Q8WUA9|Q9H3S1|angiogenesis_%20_(GO:0001525)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_negative_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0016525)_%7C_regulation_%20_of_%20_cell_%20_shape_%20_(GO:0008360)_%7C_regulation_%20_of_%20_endothelial_%20_cell_%20_migration_%20_(GO:0010594)_%7C_semaphorin-plexin_%20_signaling_%20_pathway_%20_(GO:0071526)_%7C_T-helper_%20_1_%20_cell_%20_differentiation_%20_(GO:0045063)|integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|receptor_%20_activity_%20_(GO:0004872)||||true|false|0.9992_%2C_0.0007987|false|false|0||false|false|false|SEMA4A:64218|false|false|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|551865598|156124223|false|false|0|false|0|false|0.998832_%2C_0.00116766|false|false|false|DIV|true|0x050000080005040026000200|1|false|142|rs551865598|] +1 156213921 rs7513351 C T 744.25 PASS FUNCOTATION=[PAQR6|hg19|chr1|156213921|156213921|SILENT||SNP|C|C|T|g.chr1:156213921C>T|ENST00000292291.5|-|8|1193|c.1034G>A|c.(1033-1035)tGa>tAa|p.*345*|0.6359102244389028|GATGGGGCCTCACTGTTGTTT|PAQR6_ENST00000335852.1_MISSENSE_p.E263K/PAQR6_ENST00000368270.1_SILENT_p.*321*/PAQR6_ENST00000540423.1_SILENT_p.*342*/PAQR6_ENST00000356983.2_MISSENSE_p.E263K/PAQR6_ENST00000492619.1_INTRON|GBM(16_%3B_219_%20_398_%20_12385_%20_32425_%20_38531)||||||||||||||||||||||||68|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||FJ200492|NM_198406.2|NP_940798.1|HGNC:30132|progestin_%20_and_%20_adipoQ_%20_receptor_%20_family_%20_member_%20_6|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"progestin_%20_and_%20_adipoQ_%20_receptor_%20_family_%20_member_%20_VI"|FLJ22672_%2C__%20_PRdelta||1q22|2016-10-05||2016-03-30|AF455045||79957|ENSG00000160781|18603275|NM_024897|930|Progestin_%20_and_%20_adipoQ_%20_receptor_%20_family|CCDS1135_%2C__%20_CCDS1136_%2C__%20_CCDS60301_%2C__%20_CCDS72945_%2C__%20_CCDS72946|OTTHUMG00000017490|79957|614579|NM_001272104|Q6TCH4|ENSG00000160781|uc001fnu.3|PAQR6_HUMAN||B7Z9R9_%7C_D3DVB4_%7C_D3DVB6_%7C_Q5TCK9_%7C_Q6PDU0_%7C_Q7Z4Q7_%7C_Q7Z4Q9_%7C_Q8N121_%7C_Q8N3M2_%7C_Q9H621|Q6TCH4||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|receptor_%20_activity_%20_(GO:0004872)||||true|false|0.7808_%2C_0.2192|false|false|1||false|true|true|PAQR6:79957|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|false|true|7513351|156213921|false|false|0|true|0|true|0.822275_%2C_0.177725|false|false|false|SNV|true|0x050128000b0517053f000100|1|false|116|rs7513351|] +1 159174123 rs3027012 C T 751.12 PASS FUNCOTATION=[DARC|hg19|chr1|159174123|159174123|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:159174123C>T|ENST00000368122.2|+|1|||||0.5336658354114713|ACACAGCAAACGTACACAGAG|DARC_ENST00000537147.1_DE_NOVO_START_OUT_FRAME/DARC_ENST00000368121.2_FIVE_PRIME_FLANK/CTA-134P22.2_ENST00000609696.1_RNA/CTA-134P22.2_ENST00000415675.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||615|biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)|||||||X85785|NM_002036.3|NP_002027.2||||||||||||||||||||||||||||||ACKR1_HUMAN||A8YPG5_%7C_O75898_%7C_Q16300_%7C_Q8WWE3_%7C_Q9UJP0_%7C_Q9UKZ5_%7C_Q9UKZ6_%7C_Q9UQE1|Q16570|chemokine-mediated_%20_signaling_%20_pathway_%20_(GO:0070098)_%7C_defense_%20_response_%20_(GO:0006952)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_regulation_%20_of_%20_chemokine_%20_production_%20_(GO:0032642)|endosome_%20_(GO:0005768)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886)|C-C_%20_chemokine_%20_binding_%20_(GO:0019957)_%7C_G-protein_%20_coupled_%20_receptor_%20_activity_%20_(GO:0004930)_%7C_receptor_%20_activity_%20_(GO:0004872)_%7C_transmembrane_%20_signaling_%20_receptor_%20_activity_%20_(GO:0004888)||||true|false|0.9085_%2C_0.09145|false|false|1||false|true|false|CADM3-AS1:100131825_%7C_ACKR1:2532|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3027012|159174123|false|false|0|true|0|false|0.887492_%2C_0.112508|false|false|true|SNV|true|0x05010042000515053f000100|1|false|102|rs3027012|] +1 161601097 rs67020125 C A 447.25 PASS FUNCOTATION=[FCGR3B|hg19|chr1|161601097|161601097|INTRON||SNP|C|C|A|g.chr1:161601097C>A|ENST00000367964.2|-|||c.e2+169G>T|||0.5361596009975063|AGGAAAGAGCCTGGAGGCAAG|FCGR3B_ENST00000294800.3_DE_NOVO_START_OUT_FRAME/FCGR2B_ENST00000403078.3_INTRON/FCGR2B_ENST00000367962.4_INTRON/FCGR2B_ENST00000367960.5_INTRON/FCGR2B_ENST00000428605.2_INTRON/FCGR3B_ENST00000531221.1_FIVE_PRIME_FLANK/FCGR3A_ENST00000540048.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||37|central_nervous_system(22)_%7C_soft_tissue(14)_%7C_upper_aerodigestive_tract(1)|||||||Z46223|NM_001271036.1|NP_001257965.1|HGNC:3620|Fc_%20_fragment_%20_of_%20_IgG_%20_receptor_%20_IIIb|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|FCGR3_%2C__%20_FCG3|"Fc_%20_fragment_%20_of_%20_IgG_%2C__%20_low_%20_affinity_%20_IIIb_%2C__%20_receptor_%20_for_%20_(CD16)"_%2C__%20_"Fc_%20_fragment_%20_of_%20_IgG_%2C__%20_low_%20_affinity_%20_IIIb_%2C__%20_receptor_%20_(CD16b)"|CD16_%2C__%20_CD16b|"Fc_%20_gamma_%20_receptor_%20_IIIb"|1q23.3|2016-10-05||2016-01-13|J04162||2215|ENSG00000162747|2139735|NM_000570|471_%7C_594|CD_%20_molecules_%7C_Immunoglobulin_%20_like_%20_domain_%20_containing|CCDS41433_%2C__%20_CCDS58040_%2C__%20_CCDS72960_%2C__%20_CCDS72961|OTTHUMG00000074099|2215|610665|NM_000570|O75015|ENSG00000162747|uc021pdo.2|FCG3B_HUMAN|Abciximab(DB00054)_%7C_Adalimumab(DB00051)_%7C_Alefacept(DB00092)_%7C_Alemtuzumab(DB00087)_%7C_Basiliximab(DB00074)_%7C_Bevacizumab(DB00112)_%7C_Cetuximab(DB00002)_%7C_Daclizumab(DB00111)_%7C_Efalizumab(DB00095)_%7C_Etanercept(DB00005)_%7C_Gemtuzumab_%20_ozogamicin(DB00056)_%7C_Ibritumomab(DB00078)_%7C_Intravenous_%20_Immunoglobulin(DB00028)_%7C_Muromonab(DB00075)_%7C_Natalizumab(DB00108)_%7C_Palivizumab(DB00110)_%7C_Rituximab(DB00073)_%7C_Tositumomab(DB00081)_%7C_Trastuzumab(DB00072)||O75015|immune_%20_response_%20_(GO:0006955)|anchored_%20_component_%20_of_%20_membrane_%20_(GO:0031225)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_plasma_%20_membrane_%20_(GO:0005886)|||||true|false|0.9058_%2C_0.09425|false|false|1||false|true|true|FCGR3B:2215|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|67020125|161601097|false|false|0|true|0|false||false|false|true|SNV|true|0x0501004a000517043e000100|1|false|130|rs67020125|] +1 167385324 rs34032944 TA T 301.38 PASS FUNCOTATION=[POU2F1|hg19|chr1|167385325|167385325|THREE_PRIME_UTR||DEL|A|A|-|g.chr1:167385325delA|ENST00000367862.5|+|16|||||0.3266832917705736|ACCAAAAATTAAAAAAAAAAA|POU2F1_ENST00000367866.2_THREE_PRIME_UTR/POU2F1_ENST00000420254.3_NONSTOP_p.K656fs/POU2F1_ENST00000367865.1_INTRON|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||X13403|NM_001198783.1|NP_001185712.1|HGNC:9212|POU_%20_class_%20_2_%20_homeobox_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|OTF1|"POU_%20_domain_%20_class_%20_2_%2C__%20_transcription_%20_factor_%20_1"|OCT1||1q24.2|2016-04-25||2007-07-13|BC001664||5451|ENSG00000143190|1887216|NM_002697|523|POU_%20_class_%20_homeoboxes_%20_and_%20_pseudogenes|CCDS1259_%2C__%20_CCDS55655_%2C__%20_CCDS55656|OTTHUMG00000034436|5451|164175|NM_001198783|P14859|ENSG00000143190|uc001gee.3|PO2F1_HUMAN||B1AL91_%7C_B1AL93_%7C_B4E029_%7C_J3KP77_%7C_Q5TBT7_%7C_Q6PK46_%7C_Q8NEU9_%7C_Q9BPV1|P14859|gene_%20_expression_%20_(GO:0010467)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_transcription_%20_from_%20_RNA_%20_polymerase_%20_III_%20_promoter_%20_(GO:0006383)|cytoplasm_%20_(GO:0005737)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)|sequence-specific_%20_DNA_%20_binding_%20_(GO:0043565)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.3023_%2C_0.6977_%7C_0.3023_%2C_0.6977|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|POU2F1:5451_%7C_POU2F1:5451|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|34032944_%7C_779631157|167385325_%7C_167385326|false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|0_%7C_0|false_%7C_false|_%7C_|false_%7C_false|true_%7C_true|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x050000800005170026000200_%7C_0x050000800005000002000200|1_%7C_1|false_%7C_false|126_%7C_144|rs34032944_%7C_rs779631157|_%7C_] +1 196757960 rs116394410 G A 269.25 PASS FUNCOTATION=[CFHR3|hg19|chr1|196757960|196757960|INTRON||SNP|G|G|A|g.chr1:196757960G>A|ENST00000367425.4|+|||c.e4+432G>A|||0.3765586034912718|ATTTCTGCTAGCGTCAGGAGA|CFHR3_ENST00000471440.2_SILENT_p.*233*/CFHR3_ENST00000391985.3_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X68679|NM_021023.5|NP_066303.2|HGNC:16980|complement_%20_factor_%20_H_%20_related_%20_3|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CFHL3|"complement_%20_factor_%20_H-related_%20_3"|FHR-3_%2C__%20_HLF4_%2C__%20_FHR3_%2C__%20_DOWN16||1q31.3|2017-03-24|2006-02-28|2016-01-19|X68679||10878|ENSG00000116785|8428964_%2C__%20_10380701|NM_021023|1179_%7C_492|Sushi_%20_domain_%20_containing_%7C_Complement_%20_system|CCDS30958_%2C__%20_CCDS53453|OTTHUMG00000035929|10878|605336|NM_001166624|Q02985|ENSG00000116785|uc001gtl.4|FHR3_HUMAN||B4DPR0_%7C_Q9UJ16|Q02985||blood_%20_microparticle_%20_(GO:0072562)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)|||||true|false|0.9952_%2C_0.004792|false|false|1||false|false|false|CFHR3:10878|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|116394410|196757960|false|false|0|true|0|true||false|false|false|SNV|true|0x050100080305040436000100|1|false|132|rs116394410|] +1 230829139 rs1051038 A G 990.12 PASS FUNCOTATION=[COG2|hg19|chr1|230829139|230829139|SILENT||SNP|A|A|G|g.chr1:230829139A>G|ENST00000366669.4|+|18|2332|c.2217A>G|c.(2215-2217)taA>taG|p.*739*|0.4513715710723192|AGCAGCCTTAAGCATCTTGGA|COG2_ENST00000366668.3_SILENT_p.*738*/COG2_ENST00000534989.1_SILENT_p.*680*/COG2_ENST00000535166.1_SILENT_p.*623*/COG2_ENST00000546013.1_SILENT_p.*428*|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(1)|||||||Z34975|NM_007357.2|NP_031383.1|HGNC:6546|component_%20_of_%20_oligomeric_%20_golgi_%20_complex_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|LDLC|"low_%20_density_%20_lipoprotein_%20_receptor_%20_defect_%20_C_%20_complementing"|||1q42.2|2014-11-18|2002-05-31|2002-05-28|Z34975||22796|ENSG00000135775|7962052|NM_007357|493|Components_%20_of_%20_oligomeric_%20_golgi_%20_complex|CCDS1584_%2C__%20_CCDS44329|OTTHUMG00000037753|22796|606974|NM_001145036|Q14746|ENSG00000135775|uc001htw.4|COG2_HUMAN||Q86U99|Q14746|Golgi_%20_organization_%20_(GO:0007030)_%7C_intra-Golgi_%20_vesicle-mediated_%20_transport_%20_(GO:0006891)_%7C_intracellular_%20_protein_%20_transport_%20_(GO:0006886)_%7C_oligosaccharide_%20_biosynthetic_%20_process_%20_(GO:0009312)_%7C_protein_%20_glycosylation_%20_(GO:0006486)|cytosol_%20_(GO:0005829)_%7C_Golgi_%20_membrane_%20_(GO:0000139)_%7C_Golgi_%20_stack_%20_(GO:0005795)_%7C_Golgi_%20_transport_%20_complex_%20_(GO:0017119)|protein_%20_transporter_%20_activity_%20_(GO:0008565)||||true|false|0.6554_%2C_0.3446|false|false|1||false|true|true|COG2:22796|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|1051038|230829139|false|false|0|true|0|true|0.75577_%2C_0.24423|false|false|false|SNV|true|0x05012800030517053f000100|1|false|86|rs1051038|] +2 242800 rs10181051 T C 356.25 PASS FUNCOTATION=[SH3YL1|hg19|chr2|242800|242800|INTRON||SNP|T|T|C|g.chr2:242800T>C|ENST00000405430.1|-|||c.e6-4738A>G|||0.2967581047381546|AAAGTTACCATTAGATTGACA|SH3YL1_ENST00000356150.5_INTRON/SH3YL1_ENST00000403657.1_START_CODON_SNP_p.M1V/SH3YL1_ENST00000403658.1_START_CODON_SNP_p.M1V/SH3YL1_ENST00000402632.1_INTRON/SH3YL1_ENST00000403712.2_INTRON/SH3YL1_ENST00000415006.2_START_CODON_SNP_p.M1V/SH3YL1_ENST00000468321.1_INTRON|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||CR457361|||HGNC:29546|SH3_%20_and_%20_SYLF_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"SH3_%20_domain_%20_containing_%2C__%20_Ysc84-like_%20_1_%20_(S._%20_cerevisiae)"|Ray_%2C__%20_DKFZP586F1318||2p25.3|2016-04-25||2013-10-18|||26751|ENSG00000035115|21624956|NM_015677|||CCDS42646_%2C__%20_CCDS54332_%2C__%20_CCDS62841_%2C__%20_CCDS62842|OTTHUMG00000151359|26751|617314|NM_001159597|Q96HL8|ENSG00000035115|uc061fxl.1|SH3Y1_HUMAN||A8K8E7_%7C_B7WNJ4_%7C_B7WPL6_%7C_Q8NEL2_%7C_Q9H5X4_%7C_Q9Y3V5|Q96HL8|phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_regulation_%20_of_%20_ruffle_%20_assembly_%20_(GO:1900027)|ruffle_%20_membrane_%20_(GO:0032587)|phosphatase_%20_binding_%20_(GO:0019902)_%7C_phosphatidylinositol_%20_binding_%20_(GO:0035091)||||true|false|0.6745_%2C_0.3255_%2C_.|false|false|1||false|true|true|SH3YL1:26751|true|true|true|true|true|false|true|false|false|false|false|true|false|false|false|true|true|false|false|true|10181051|242800|false|false|0|true|0|false|0.709198_%2C_0.290802_%2C_.|false|false|false|SNV|true|0x050128080a0517053f020100|1|false|119|rs10181051|] +2 260677 rs10188763 G A 729.25 PASS FUNCOTATION=[SH3YL1|hg19|chr2|260677|260677|INTRON||SNP|G|G|A|g.chr2:260677G>A|ENST00000405430.1|-|||c.e3-1954C>T|||0.43640897755610975|GGACTTCTTCGTCAAATGGAC|SH3YL1_ENST00000356150.5_INTRON/SH3YL1_ENST00000403657.1_DE_NOVO_START_IN_FRAME/SH3YL1_ENST00000402632.1_INTRON/SH3YL1_ENST00000403712.2_INTRON/SH3YL1_ENST00000403658.1_INTRON/ACP1_ENST00000272065.5_FIVE_PRIME_FLANK/ACP1_ENST00000272067.6_FIVE_PRIME_FLANK/ACP1_ENST00000405233.1_FIVE_PRIME_FLANK/ACP1_ENST00000407983.3_FIVE_PRIME_FLANK/ACP1_ENST00000439645.2_FIVE_PRIME_FLANK/SH3YL1_ENST00000468321.1_INTRON/ACP1_ENST00000484464.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_oesophagus(1)_%7C_pancreas(22)|||||||CR457361|||HGNC:29546|SH3_%20_and_%20_SYLF_%20_domain_%20_containing_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"SH3_%20_domain_%20_containing_%2C__%20_Ysc84-like_%20_1_%20_(S._%20_cerevisiae)"|Ray_%2C__%20_DKFZP586F1318||2p25.3|2016-04-25||2013-10-18|||26751|ENSG00000035115|21624956|NM_015677|||CCDS42646_%2C__%20_CCDS54332_%2C__%20_CCDS62841_%2C__%20_CCDS62842|OTTHUMG00000151359|26751|617314|NM_001159597|Q96HL8|ENSG00000035115|uc061fxl.1|SH3Y1_HUMAN||A8K8E7_%7C_B7WNJ4_%7C_B7WPL6_%7C_Q8NEL2_%7C_Q9H5X4_%7C_Q9Y3V5|Q96HL8|phosphatidylinositol_%20_biosynthetic_%20_process_%20_(GO:0006661)_%7C_regulation_%20_of_%20_ruffle_%20_assembly_%20_(GO:1900027)|ruffle_%20_membrane_%20_(GO:0032587)|phosphatase_%20_binding_%20_(GO:0019902)_%7C_phosphatidylinositol_%20_binding_%20_(GO:0035091)||||true|false|0.6895_%2C_0.3105|false|false|1||false|true|true|SH3YL1:26751|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10188763|260677|false|false|0|true|0|false|0.737327_%2C_0.262673|false|false|false|SNV|true|0x05010008000517053f000100|1|false|119|rs10188763|] +2 3519572 rs6422707 A C 3016.89 PASS FUNCOTATION=[ADI1|hg19|chr2|3519572|3519572|INTRON||SNP|A|A|C|g.chr2:3519572A>C|ENST00000327435.6|-|||c.e2+1825T>G|||0.428927680798005|CCAGCTGTAAAATTCCTCTCT|ADI1_ENST00000382093.5_DE_NOVO_START_IN_FRAME/AC142528.1_ENST00000450917.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CH471053|NM_018269.3|NP_060739.2|HGNC:30576|acireductone_%20_dioxygenase_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||SIPL_%2C__%20_MTCBP-1_%2C__%20_ARD_%2C__%20_APL1_%2C__%20_FLJ10913_%2C__%20_HMFT1638_%2C__%20_mtnD|"membrane-type_%20_1_%20_matrix_%20_metalloproteinase_%20_cytoplasmic_%20_tail_%20_binding_%20_protein-1"|2p25.3|2016-10-05||||1.13.11.54|55256|ENSG00000182551|14718544_%2C__%20_15938715|NM_018269|||CCDS1653_%2C__%20_CCDS77380|OTTHUMG00000112441|55256|613400|NM_001306077|Q9BV57|ENSG00000182551|uc002qxp.5|||||||||||true|false|0.3085_%2C_0.6915|false|false|1||false|true|true|ADI1:55256|true|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6422707|3519572|false|false|0|true|0|false|0.327621_%2C_0.672379|false|false|true|SNV|true|0x050100480005170136000100|1|false|116|rs6422707|] +2 10281514 rs17313542 C T 321.25 PASS FUNCOTATION=[C2orf48|hg19|chr2|10281514|10281514|DE_NOVO_START_IN_FRAME||SNP|C|C|T|g.chr2:10281514C>T|ENST00000381786.3|+|1|||||0.5785536159600998|CACCTAGCTACGCTCACTGAC||||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC094001|NM_182626.2|NP_872432.1|HGNC:26322|chromosome_%20_2_%20_open_%20_reading_%20_frame_%20_48|Approved|unknown|other|||FLJ25102||2p25.1|2016-09-30|||AK057831||348738|ENSG00000163009|12477932|NM_182626||||OTTHUMG00000119017|348738||NM_182626|Q96LS8|ENSG00000163009|uc021vds.2|CB048_HUMAN|||Q96LS8|||||||true|false|0.9497_%2C_0.05032|false|false|1||false|true|false|C2orf48:348738|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|17313542|10281514|false|false|0|true|0|false|0.949959_%2C_0.0500412|false|false|true|SNV|true|0x050100400005150537000101|1|false|123|rs17313542|] +2 20251675 rs1513829 G C 720.25 PASS FUNCOTATION=[LAPTM4A|hg19|chr2|20251675|20251675|DE_NOVO_START_IN_FRAME||SNP|G|G|C|g.chr2:20251675G>C|ENST00000175091.4|-|1|||||0.571072319201995|CTATTCCCGAGATGAGACCCG|RP11-644K8.1_ENST00000452342.2_FIVE_PRIME_FLANK|Ovarian(90_%3B_1240_%20_1386_%20_7711_%20_14384_%20_46863)||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||D14696|NM_014713.4|NP_055528.1|HGNC:6924|lysosomal_%20_protein_%20_transmembrane_%20_4_%20_alpha|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|MBNT|"lysosomal-associated_%20_protein_%20_transmembrane_%20_4_%20_alpha"|HUMORF13_%2C__%20_KIAA0108_%2C__%20_Mtrp_%2C__%20_LAPTM4||2p24.1|2014-11-19||2008-08-11|D14696||9741|ENSG00000068697|8621662_%2C__%20_7788527|NM_014713|||CCDS1696|OTTHUMG00000090750|9741||NM_014713|Q15012|ENSG00000068697|uc002rdm.3|LAP4A_HUMAN||Q6UW22|Q15012|transport_%20_(GO:0006810)|Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|||||true|false|0.4431_%2C_0.5569|false|false|1||false|true|true|LAPTM4A:9741|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1513829|20251675|false|false|0|true|0|false|0.558696_%2C_0.441304|false|false|true|SNV|true|0x05010042000517053f000101|1|false|88|rs1513829|] +2 24395506 rs889830 T C 2849.69 PASS FUNCOTATION=[FAM228A|hg19|chr2|24395506|24395506|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr2:24395506T>C|ENST00000295150.3|+||||||0.4688279301745636|CGGACTCAAGTGATCCTCCCA|RP11-507M3.1_ENST00000584973.1_NONSTOP_p.*204R/AC008073.7_ENST00000428344.1_RNA/AC008073.7_ENST00000438414.1_RNA|||||||||||||||||||||||||||||||||CH471053|NM_001040710.1|NP_001035800.1|HGNC:34418|family_%20_with_%20_sequence_%20_similarity_%20_228_%20_member_%20_A|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|C2orf84|"chromosome_%20_2_%20_open_%20_reading_%20_frame_%20_84"_%2C__%20_"family_%20_with_%20_sequence_%20_similarity_%20_228_%2C__%20_member_%20_A"|FLJ30851||2p23.3|2016-09-30|2012-07-04|2015-11-18|||653140|ENSG00000186453||NM_001040710|||CCDS42659|OTTHUMG00000151903|653140||NM_001040710|Q86W67|ENSG00000186453|uc002rfc.3|F228A_HUMAN|||Q86W67|||||||true|false|0.1865_%2C_0.8135|false|false|1||false|true|true|FAM228A:653140|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|889830|24395506|false|false|0|true|0|false|0.232209_%2C_0.767791|false|false|false|SNV|true|0x050100020005170136000100|1|false|86|rs889830|] +2 26477125 rs59947000 G GACT 4547.73 PASS FUNCOTATION=[HADHB|hg19|chr2|26477125|26477126|IN_FRAME_INS||INS|-|-|ACT|g.chr2:26477125_26477126insACT|ENST00000317799.5|+|2|107|c.3_4insACT|c.(4-6)act>ACTact|p.1_2insT|0.325|TTCCAGAATGACTATCTTGA|HADHB_ENST00000405867.3_IN_FRAME_INS_p.1_2insT/HADHB_ENST00000537713.1_IN_FRAME_INS_p.1_2insT/HADHB_ENST00000545822.1_FIVE_PRIME_UTR|||||||||||||||||||||||||153|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_pancreas(22)|||||||D86850|NM_001281512.1|NP_001268441.1|HGNC:4803|hydroxyacyl-CoA_%20_dehydrogenase_%20_trifunctional_%20_multienzyme_%20_complex_%20_subunit_%20_beta|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"hydroxyacyl-Coenzyme_%20_A_%20_dehydrogenase/3-ketoacyl-Coenzyme_%20_A_%20_thiolase/enoyl-Coenzyme_%20_A_%20_hydratase_%20_(trifunctional_%20_protein)_%2C__%20_beta_%20_subunit"_%2C__%20_"hydroxyacyl-CoA_%20_dehydrogenase/3-ketoacyl-CoA_%20_thiolase/enoyl-CoA_%20_hydratase_%20_(trifunctional_%20_protein)_%2C__%20_beta_%20_subunit"|MTPB|"mitochondrial_%20_trifunctional_%20_protein_%2C__%20_beta_%20_subunit"|2p23.3|2017-09-15||2017-09-15||2.3.1.16|3032|ENSG00000138029|9605857|NM_000183|||CCDS1722_%2C__%20_CCDS62871_%2C__%20_CCDS62872|OTTHUMG00000096978|3032|143450|NM_000183|P55084|ENSG00000138029|uc002rgz.4|ECHB_HUMAN||B2RB16_%7C_B4E2W0_%7C_O14969_%7C_Q53TA6_%7C_Q96C77_%7C_Q9H3F5_%7C_Q9T2V8|P55084|cardiolipin_%20_acyl-chain_%20_remodeling_%20_(GO:0035965)_%7C_cellular_%20_lipid_%20_metabolic_%20_process_%20_(GO:0044255)_%7C_fatty_%20_acid_%20_beta-oxidation_%20_(GO:0006635)_%7C_glycerophospholipid_%20_biosynthetic_%20_process_%20_(GO:0046474)_%7C_phospholipid_%20_metabolic_%20_process_%20_(GO:0006644)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)|endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrial_%20_envelope_%20_(GO:0005740)_%7C_mitochondrial_%20_fatty_%20_acid_%20_beta-oxidation_%20_multienzyme_%20_complex_%20_(GO:0016507)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_nucleoid_%20_(GO:0042645)_%7C_mitochondrial_%20_outer_%20_membrane_%20_(GO:0005741)_%7C_mitochondrion_%20_(GO:0005739)|3-hydroxyacyl-CoA_%20_dehydrogenase_%20_activity_%20_(GO:0003857)_%7C_acetyl-CoA_%20_C-acyltransferase_%20_activity_%20_(GO:0003988)_%7C_enoyl-CoA_%20_hydratase_%20_activity_%20_(GO:0004300)_%7C_fatty-acyl-CoA_%20_binding_%20_(GO:0000062)_%7C_long-chain-3-hydroxyacyl-CoA_%20_dehydrogenase_%20_activity_%20_(GO:0016509)_%7C_long-chain-enoyl-CoA_%20_hydratase_%20_activity_%20_(GO:0016508)_%7C_NAD_%20_binding_%20_(GO:0051287)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)||||true|false|0.2905_%2C_0.7095|false|false|1||false|false|false|HADHB:3032|false|false|false|false|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|1064793144|26477125|false|false|0|false|0|false||false|false|true|DIV|false|0x050060400005000002100200|1|false|150|rs1064793144|] +2 69659126 rs4453725 A T 1997.94 PASS FUNCOTATION=[NFU1|hg19|chr2|69659126|69659126|MISSENSE||SNP|A|A|T|g.chr2:69659126A>T|ENST00000410022.2|-|2|280|c.74T>A|c.(73-75)aTg>aAg|p.M25K|0.32917705735660846|ATTCTTCAACATATGACAGAA|NFU1_ENST00000303698.3_START_CODON_SNP_p.M1K/NFU1_ENST00000394305.1_FIVE_PRIME_UTR/NFU1_ENST00000471185.1_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||DB304061|NM_001002755.2|NP_001002755.1|HGNC:16287|NFU1_%20_iron-sulfur_%20_cluster_%20_scaffold|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|HIRIP5|"HIRA_%20_interacting_%20_protein_%20_5"_%2C__%20_"NFU1_%20_iron-sulfur_%20_cluster_%20_scaffold_%20_homolog_%20_(S._%20_cerevisiae)"|CGI-33_%2C__%20_NifU_%2C__%20_NIFUC||2p13.3|2016-10-05|2006-10-24|2014-07-03|AJ132584||27247|ENSG00000169599|11342215_%2C__%20_12886008|NM_015700|||CCDS33217_%2C__%20_CCDS42694_%2C__%20_CCDS46315|OTTHUMG00000152668|27247|608100|NM_001002755|Q9UMS0|ENSG00000169599|uc002sfk.4|NFU1_HUMAN||B4DUL9_%7C_Q53QE5_%7C_Q6VNZ8_%7C_Q7Z5B1_%7C_Q7Z5B2_%7C_Q9Y322|Q9UMS0|iron-sulfur_%20_cluster_%20_assembly_%20_(GO:0016226)|cytosol_%20_(GO:0005829)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)|4_%20_iron_%2C__%20_4_%20_sulfur_%20_cluster_%20_binding_%20_(GO:0051539)_%7C_iron_%20_ion_%20_binding_%20_(GO:0005506)||||true|false|0.6829_%2C_0.3171|false|false|1||false|true|true|NFU1:27247|true|true|false|true|true|true|false|false|false|false|false|true|false|false|false|true|false|false|false|true|4453725|69659126|true|false|1|true|0|false|0.641434_%2C_0.358566|false|false|true|SNV|true|0x050160400a0517053f100100|1|false|111|rs4453725|] +2 70120909 rs3214822 GA G 722.12 PASS FUNCOTATION=[SNRNP27|hg19|chr2|70120910|70120910|FIVE_PRIME_UTR||DEL|A|A|-|g.chr2:70120910delA|ENST00000244227.3|+|1|||||0.43640897755610975|GGGAAAAATGAAAGCTGTGTT|SNRNP27_ENST00000409116.1_FIVE_PRIME_FLANK/SNRNP27_ENST00000488986.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||91|biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||X76302|NM_006857.2|NP_006848.1|HGNC:30240|small_%20_nuclear_%20_ribonucleoprotein_%20_U4/U6.U5_%20_subunit_%20_27|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"small_%20_nuclear_%20_ribonucleoprotein_%20_27kDa_%20_(U4/U6.U5)"_%2C__%20_"small_%20_nuclear_%20_ribonucleoprotein_%2C__%20_U4/U6.U5_%20_27kDa_%20_subunit"|RY1_%2C__%20_U4/U6.U5-27K|"nucleic_%20_acid_%20_binding_%20_protein_%20_RY_%20_1"_%2C__%20_"U4/U6.U5_%20_small_%20_nuclear_%20_ribonucleoprotein_%20_27_%20_kDa_%20_protein"|2p13.3|2016-10-05||2016-03-11|X76302||11017|ENSG00000124380|7931148_%2C__%20_9085842|NM_006857|||CCDS33219|OTTHUMG00000152689|11017||NM_006857|Q8WVK2|ENSG00000124380|uc002sfw.4|SNR27_HUMAN||Q15410|Q8WVK2|mRNA_%20_processing_%20_(GO:0006397)_%7C_RNA_%20_splicing_%20_(GO:0008380)|nucleus_%20_(GO:0005634)|nucleic_%20_acid_%20_binding_%20_(GO:0003676)|_%7C_|_%7C_|_%7C_|true_%7C_true|false_%7C_false|0.6222_%2C_0.3778_%7C_0.6222_%2C_0.3778|false_%7C_false|false_%7C_false|1_%7C_1|_%7C_|false_%7C_false|true_%7C_false|true_%7C_false|SNRNP27:11017_%7C_SNRNP27:11017|true_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_true|false_%7C_false|3214822_%7C_397747233|70120910_%7C_70120912|false_%7C_false|false_%7C_false|0_%7C_0|true_%7C_true|0_%7C_0|false_%7C_false|0.661217_%2C_0.338783_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|DIV_%7C_DIV|true_%7C_false|0x05010002000517013e000200_%7C_0x050100020005000002000200|1_%7C_1|false_%7C_false|134_%7C_138|rs3214822_%7C_rs397747233|_%7C_] +2 71163086 rs11681642 T C 1573.93 PASS FUNCOTATION=[ATP6V1B1|hg19|chr2|71163086|71163086|START_CODON_SNP||SNP|T|T|C|g.chr2:71163086T>C|ENST00000234396.4|+|1|75|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6508728179551122|GACTGCTCCATGGCCATGGAG|ATP6V1B1_ENST00000412314.1_START_CODON_SNP_p.M1T|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||M25809|NM_001692.3|NP_001683.2|HGNC:853|ATPase_%20_H+_%20_transporting_%20_V1_%20_subunit_%20_B1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|VPP3_%2C__%20_ATP6B1|"vacuolar_%20_proton_%20_pump_%20_3"_%2C__%20_"ATPase_%2C__%20_H+_%20_transporting_%2C__%20_lysosomal_%20_56/58kDa_%2C__%20_V1_%20_subunit_%20_B1"|VATB_%2C__%20_RTA1B_%2C__%20_Vma2|"Renal_%20_tubular_%20_acidosis_%20_with_%20_deafness"|2p13.3|2016-10-05|2002-05-10|2016-02-11|AF107466|3.6.3.14|525|ENSG00000116039|9916796_%2C__%20_2527371|NM_001692|415|V-type_%20_ATPases|CCDS1912|OTTHUMG00000129711|525|192132|NM_001692|P15313|ENSG00000116039|uc002shj.4|VATB1_HUMAN||Q53FY0_%7C_Q6P4H6|P15313|ATP_%20_hydrolysis_%20_coupled_%20_proton_%20_transport_%20_(GO:0015991)_%7C_ATP_%20_metabolic_%20_process_%20_(GO:0046034)_%7C_calcium_%20_ion_%20_homeostasis_%20_(GO:0055074)_%7C_cellular_%20_iron_%20_ion_%20_homeostasis_%20_(GO:0006879)_%7C_excretion_%20_(GO:0007588)_%7C_inner_%20_ear_%20_morphogenesis_%20_(GO:0042472)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_interaction_%20_with_%20_host_%20_(GO:0051701)_%7C_ossification_%20_(GO:0001503)_%7C_pH_%20_reduction_%20_(GO:0045851)_%7C_phagosome_%20_maturation_%20_(GO:0090382)_%7C_proton_%20_transport_%20_(GO:0015992)_%7C_regulation_%20_of_%20_pH_%20_(GO:0006885)_%7C_sensory_%20_perception_%20_of_%20_sound_%20_(GO:0007605)_%7C_transferrin_%20_transport_%20_(GO:0033572)_%7C_transmembrane_%20_transport_%20_(GO:0055085)|apical_%20_plasma_%20_membrane_%20_(GO:0016324)_%7C_basolateral_%20_plasma_%20_membrane_%20_(GO:0016323)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_lateral_%20_plasma_%20_membrane_%20_(GO:0016328)_%7C_microvillus_%20_(GO:0005902)_%7C_proton-transporting_%20_V-type_%20_ATPase_%2C__%20_V1_%20_domain_%20_(GO:0033180)_%7C_vacuolar_%20_proton-transporting_%20_V-type_%20_ATPase_%20_complex_%20_(GO:0016471)|ATP_%20_binding_%20_(GO:0005524)_%7C_hydrogen_%20_ion_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015078)_%7C_hydrolase_%20_activity_%2C__%20_acting_%20_on_%20_acid_%20_anhydrides_%2C__%20_catalyzing_%20_transmembrane_%20_movement_%20_of_%20_substances_%20_(GO:0016820)||||true|false|0.6312_%2C_0.3688|false|false|1||false|true|true|ATP6V1B1:525|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|false|true|11681642|71163086|false|false|0|true|0|false||false|false|false|SNV|true|0x050128000a05170537000100|1|false|120|rs11681642|] +2 85549868 rs4240199 A G 1564.94 PASS FUNCOTATION=[TGOLN2|hg19|chr2|85549868|85549868|MISSENSE||SNP|A|A|G|g.chr2:85549868A>G|ENST00000409232.3|-|4|1384|c.1322T>C|c.(1321-1323)cTa>cCa|p.L441P|0.38902743142144636|GTTAGGACTTAGGGGAAAAAA|TGOLN2_ENST00000377386.3_INTRON/TGOLN2_ENST00000398263.2_INTRON/TGOLN2_ENST00000409015.1_NONSTOP_p.*455Q/TGOLN2_ENST00000282120.2_INTRON|||||||||||||||||||||||||22|breast(11)_%7C_large_intestine(11)|||||||AC093162|||HGNC:15450|trans-golgi_%20_network_%20_protein_%20_2|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||TGN51_%2C__%20_TGN46_%2C__%20_TGN48_%2C__%20_TGN38_%2C__%20_TTGN2|"trans-Golgi_%20_network_%20_protein_%20_(46_%2C__%20_48_%2C__%20_51kD_%20_isoforms)"|2p11.2|2014-11-19|||AF027515||10618|ENSG00000152291|9422759_%2C__%20_21994457|NM_006464|||CCDS46351_%2C__%20_CCDS56126_%2C__%20_CCDS56127|OTTHUMG00000153017|10618|603062|NM_001206840|O43493|ENSG00000152291|uc002soz.4|TGON2_HUMAN||B2R686_%7C_B8ZZ88_%7C_D6W5K3_%7C_F8WBK2_%7C_O15282_%7C_O43492_%7C_O43499_%7C_O43500_%7C_O43501_%7C_Q53G68_%7C_Q53GV2_%7C_Q6MZV1_%7C_Q6ZTM7_%7C_Q8N6T8_%7C_Q92760_%7C_Q96QL2|O43493||Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_trans-Golgi_%20_network_%20_(GO:0005802)_%7C_transport_%20_vesicle_%20_(GO:0030133)|||||true|false|0.221_%2C_0.779|false|false|1||false|true|false|TGOLN2:10618|true|true|true|true|true|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|4240199|85549868|false|false|0|true|0|false|0.29877_%2C_0.70123|false|false|false|SNV|true|0x050100080e0515053e000100|1|false|111|rs4240199|] +2 87069431 rs4514875 C T 1607.93 PASS FUNCOTATION=[CD8B|hg19|chr2|87069431|87069431|SILENT||SNP|C|C|T|g.chr2:87069431C>T|ENST00000390655.6|-|6|691|c.632G>A|c.(631-633)tGa>tAa|p.*211*|0.4239401496259352|ATTCTCTGCTCATTTGTAAAA|CD8B_ENST00000393759.2_INTRON/CD8B_ENST00000349455.3_INTRON/CD8B_ENST00000331469.2_INTRON/CD8B_ENST00000393761.2_INTRON|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||Y00805|NM_004931.4|NP_004922.1|HGNC:1707|CD8b_%20_molecule|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|CD8B1|"CD8_%20_antigen_%2C__%20_beta_%20_polypeptide_%20_1_%20_(p37)"|||2p11.2|2016-10-05|2006-03-09|2006-03-28|||926|ENSG00000172116|1541829|NM_172099|471_%7C_590|CD_%20_molecules_%7C_V-set_%20_domain_%20_containing|CCDS1994_%2C__%20_CCDS1995_%2C__%20_CCDS42708_%2C__%20_CCDS1997_%2C__%20_CCDS54376|OTTHUMG00000130264|926|186730|NM_001178100|P10966|ENSG00000172116|uc002srw.4|CD8B_HUMAN||P14860_%7C_P14861_%7C_Q15980_%7C_Q496E0_%7C_Q496E1_%7C_Q496E2_%7C_Q9UDB4_%7C_Q9UDB5_%7C_Q9UDB6_%7C_Q9UDB7_%7C_Q9UDB8_%7C_Q9UDB9_%7C_Q9UDC0_%7C_Q9UQ55|P10966|immune_%20_response_%20_(GO:0006955)_%7C_regulation_%20_of_%20_defense_%20_response_%20_to_%20_virus_%20_by_%20_virus_%20_(GO:0050690)_%7C_regulation_%20_of_%20_immune_%20_response_%20_(GO:0050776)_%7C_T_%20_cell_%20_activation_%20_(GO:0042110)_%7C_transmembrane_%20_receptor_%20_protein_%20_tyrosine_%20_kinase_%20_signaling_%20_pathway_%20_(GO:0007169)_%7C_viral_%20_process_%20_(GO:0016032)|early_%20_endosome_%20_membrane_%20_(GO:0031901)_%7C_external_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0009897)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_T_%20_cell_%20_receptor_%20_complex_%20_(GO:0042101)|coreceptor_%20_activity_%20_(GO:0015026)_%7C_MHC_%20_class_%20_I_%20_protein_%20_binding_%20_(GO:0042288)||||true|false|0.3055_%2C_0.6945|false|false|1||false|true|true|CD8B:926|false|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|4514875|87069431|false|false|0|true|0|true||false|false|false|SNV|true|0x050100080305170036000100|1|false|111|rs4514875|] +2 89292401 rs143871003 T C 140.25 PASS FUNCOTATION=[IGKV1-8|hg19|chr2|89292401|89292401|DE_NOVO_START_IN_FRAME||SNP|T|T|C|g.chr2:89292401T>C|ENST00000495489.1|-|1|||||0.5261845386533666|CCCTCATGTCTATGCTGTGTC|||||||||||||||||||||||||||||||||||||HGNC:5743|immunoglobulin_%20_kappa_%20_variable_%20_1-8|Approved|immunoglobulin_%20_gene|other|||IGKV18_%2C__%20_L9||2p11.2|2012-02-10|||Z00014||28942|ENSG00000240671||NG_000834|351|Immunoglobulin_%20_kappa_%20_locus_%20_at_%20_2p11.2||OTTHUMG00000151634|28942||NG_000834|A0A0C4DH67|ENSG00000240671|uc284ppp.1|||||||||||true|false|0.7296_%2C_0.2704|false|false|1||false|true|true|LOC101928457:101928457|false|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|143871003|89292401|false|false|0|true|0|false|0.786293_%2C_0.213707|false|false|false|SNV|true|0x050100080005170036000100|1|false|134|rs143871003|] +2 99226173 rs1062847 T A 426.25 PASS FUNCOTATION=[UNC50|hg19|chr2|99226173|99226173|INTRON||SNP|T|T|A|g.chr2:99226173T>A|ENST00000357765.2|+|||c.e2-46T>A|||0.4763092269326683|GGTAGCCAAATGTTTCTTCAG|UNC50_ENST00000409975.1_START_CODON_SNP_p.M1K/UNC50_ENST00000409347.1_START_CODON_SNP_p.M1K/COA5_ENST00000328709.3_FIVE_PRIME_FLANK/COA5_ENST00000409997.1_FIVE_PRIME_FLANK/COA5_ENST00000483527.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||CR533464|NM_014044.5|NP_054763.2|HGNC:16046|unc-50_%20_inner_%20_nuclear_%20_membrane_%20_RNA_%20_binding_%20_protein|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"unc-50_%20_homolog_%20_(C._%20_elegans)"|URP_%2C__%20_UNCL_%2C__%20_GMH1||2q11.2|2016-10-05||2016-04-29|||25972|ENSG00000115446|10980252|NM_014044|||CCDS2035_%2C__%20_CCDS82485|OTTHUMG00000130562|25972||NM_014044|Q53HI1|ENSG00000115446|uc002szc.5|UNC50_HUMAN||D3DVH4_%7C_Q53S98_%7C_Q53TD6_%7C_Q5U5U2_%7C_Q6X7B9_%7C_Q9UQF4_%7C_Q9Y4S6|Q53HI1|cell_%20_surface_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007166)_%7C_protein_%20_transport_%20_(GO:0015031)|Golgi_%20_membrane_%20_(GO:0000139)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nuclear_%20_inner_%20_membrane_%20_(GO:0005637)|RNA_%20_binding_%20_(GO:0003723)||||true|false|0.7143_%2C_0.2857|false|false|1||false|true|true|UNC50:25972_%7C_COA5:493753|true|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|1062847|99226173|false|false|0|true|0|false|0.747184_%2C_0.252816|false|false|false|SNV|true|0x0501000a0a0517053f000100|1|false|86|rs1062847|] +2 191184475 rs291466 A G 741.25 PASS FUNCOTATION=[HIBCH|hg19|chr2|191184475|191184475|START_CODON_SNP||SNP|A|A|G|g.chr2:191184475A>G|ENST00000359678.5|-|1|297|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6633416458852868|GCGCTGCCCCATCGCCAAACA|HIBCH_ENST00000392332.3_START_CODON_SNP_p.M1T|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||U66669|NM_198047.2|NP_932164.1|HGNC:4908|3-hydroxyisobutyryl-CoA_%20_hydrolase|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"3-hydroxyisobutyryl-Coenzyme_%20_A_%20_hydrolase"|||2q32.2|2016-10-05||2010-04-29|U66669|3.1.2.4|26275|ENSG00000198130|8824301||||CCDS2304_%2C__%20_CCDS46475|OTTHUMG00000132673|26275|610690|NM_014362|Q6NVY1|ENSG00000198130|uc002uru.3|HIBCH_HUMAN||D3DPI4_%7C_Q53GA8_%7C_Q53GF2_%7C_Q53RF7_%7C_Q53TC6_%7C_Q92931_%7C_Q9BS94|Q6NVY1|branched-chain_%20_amino_%20_acid_%20_catabolic_%20_process_%20_(GO:0009083)_%7C_cellular_%20_nitrogen_%20_compound_%20_metabolic_%20_process_%20_(GO:0034641)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_valine_%20_catabolic_%20_process_%20_(GO:0006574)|extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrial_%20_matrix_%20_(GO:0005759)|3-hydroxyisobutyryl-CoA_%20_hydrolase_%20_activity_%20_(GO:0003860)||||true|false|0.5683_%2C_0.4317|false|false|1||false|true|true|HIBCH:26275|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|291466|191184475|false|false|0|true|0|false|0.490041_%2C_0.509959|false|false|false|SNV|true|0x050100000a0517053f000101|1|false|79|rs291466|] +2 215595645 rs16852600 C T 591.25 PASS FUNCOTATION=[BARD1|hg19|chr2|215595645|215595645|INTRON||SNP|C|C|T|g.chr2:215595645C>T|ENST00000260947.4|-|||c.e10+413G>A|||0.3740648379052369|CTATACTGCTCATTTTGACAG|BARD1_ENST00000432456.1_START_CODON_SNP_p.M1I/BARD1_ENST00000449967.2_INTRON|||||||||||||||||||||||||446|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(112)_%7C_large_intestine(21)_%7C_lung(190)_%7C_pancreas(22)_%7C_skin(44)||||Neuroblastoma_%2C__%20_Familial_%20_Clustering_%20_of_%3B_Congenital_%20_Central_%20_Hypoventilation_%20_Syndrome|Familial_%20_Neuroblastoma_%3B_CCHS_%2C__%20_Ondine_%20_Curse_%2C__%20_incl._%20_Ondine-Hirschsprung_%20_Disease|Familial_%20_Cancer_%20_Database|U76638|NM_001282548.1|NP_001269477.1|HGNC:952|BRCA1_%20_associated_%20_RING_%20_domain_%20_1|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||||2q35|2015-01-28|||||580|ENSG00000138376|8944023_%2C__%20_9425226_%2C__%20_15159397|NM_000465|403_%7C_1335|Ankyrin_%20_repeat_%20_domain_%20_containing_%7C_BRCA1_%20_B_%20_complex|CCDS2397_%2C__%20_CCDS74645_%2C__%20_CCDS74646_%2C__%20_CCDS74647_%2C__%20_CCDS74648|OTTHUMG00000133016|580|601593|NM_000465|Q99728|ENSG00000138376|uc021vwi.2|BARD1_HUMAN||F6MDH7_%7C_F6MDH8_%7C_F6MDH9_%7C_O43574_%7C_Q53SS5|Q99728|cell_%20_cycle_%20_arrest_%20_(GO:0007050)_%7C_cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_DNA_%20_repair_%20_(GO:0006281)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_mRNA_%20_3'-end_%20_processing_%20_(GO:0031441)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_export_%20_from_%20_nucleus_%20_(GO:0046826)_%7C_positive_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043065)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_catabolic_%20_process_%20_(GO:0045732)_%7C_protein_%20_K6-linked_%20_ubiquitination_%20_(GO:0085020)_%7C_protein_%20_ubiquitination_%20_(GO:0016567)_%7C_regulation_%20_of_%20_phosphorylation_%20_(GO:0042325)_%7C_tissue_%20_homeostasis_%20_(GO:0001894)|BRCA1-A_%20_complex_%20_(GO:0070531)_%7C_BRCA1-BARD1_%20_complex_%20_(GO:0031436)_%7C_cytoplasm_%20_(GO:0005737)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_nucleolus_%20_(GO:0005730)_%7C_nucleus_%20_(GO:0005634)_%7C_ubiquitin_%20_ligase_%20_complex_%20_(GO:0000151)|kinase_%20_binding_%20_(GO:0019900)_%7C_ligase_%20_activity_%20_(GO:0016874)_%7C_protein_%20_heterodimerization_%20_activity_%20_(GO:0046982)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_RNA_%20_binding_%20_(GO:0003723)_%7C_ubiquitin-protein_%20_transferase_%20_activity_%20_(GO:0004842)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.7246_%2C_0.2754|false|false|1||false|true|false|BARD1:580|true|true|true|true|true|false|true|false|false|false|false|false|false|false|false|true|true|false|false|false|16852600|215595645|false|false|0|true|0|false|0.769661_%2C_0.230339|false|false|false|SNV|true|0x05012808000515053f020100|1|false|123|rs16852600|] +2 219903258 rs6736922 T G 1474.91 PASS FUNCOTATION=[CCDC108|hg19|chr2|219903258|219903258|MISSENSE||SNP|T|T|G|g.chr2:219903258T>G|ENST00000341552.5|-|4|280|c.196A>C|c.(196-198)Atg>Ctg|p.M66L|0.5885286783042394|GTGAGCATCATGTCCTTGGGA|CCDC108_ENST00000295729.2_START_CODON_SNP_p.M1L/CCDC108_ENST00000409865.3_MISSENSE_p.M55L/CCDC108_ENST00000410037.1_START_CODON_SNP_p.M1L/CCDC108_ENST00000441968.1_MISSENSE_p.M66L/CCDC108_ENST00000453220.1_MISSENSE_p.M66L/CCDC108_ENST00000324264.6_START_CODON_SNP_p.M1L|||||||||||||||||||||||||90|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)|||||||BC130281|NM_194302.3|NP_919278.2||||||||||||||||||||||||||||||CC108_HUMAN||A2BDD8_%7C_E9PCR1_%7C_E9PG25_%7C_E9PG72_%7C_Q6ZSR8_%7C_Q8N0T4_%7C_Q8NDJ3|Q6ZU64||integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)|poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_structural_%20_molecule_%20_activity_%20_(GO:0005198)||||true|false|0.4105_%2C_0.5895|false|false|1||false|true|true|CFAP65:255101_%7C_CCDC108:255101|true|true|false|true|true|false|true|false|false|false|false|true|false|false|false|true|false|false|false|true|6736922|219903258|false|false|0|true|0|false|0.359812_%2C_0.640188|false|false|false|SNV|true|0x050120000a0517053f020100|1|false|116|rs6736922|] +2 231222675 rs4973318 T C 421.25 PASS FUNCOTATION=[SP140L|hg19|chr2|231222675|231222675|MISSENSE||SNP|T|T|C|g.chr2:231222675T>C|ENST00000415673.2|+|3|349|c.263T>C|c.(262-264)aTg>aCg|p.M88T|0.41895261845386533|ACAAATAAAATGTTTGAAGTA|SP140L_ENST00000444636.1_MISSENSE_p.M88T/SP140L_ENST00000458341.1_START_CODON_SNP_p.M1T/SP140_ENST00000486687.2_THREE_PRIME_UTR/SP140L_ENST00000243810.6_MISSENSE_p.M88T/SP140L_ENST00000396563.4_MISSENSE_p.M88T|||||||||||||||||||||||||23|central_nervous_system(23)|||||||BQ690359|NM_138402.4|NP_612411.4|HGNC:25105|SP140_%20_nuclear_%20_body_%20_protein_%20_like|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"SP140_%20_nuclear_%20_body_%20_protein-like"|||2q37.1|2015-11-19||2015-11-19|BC004921||93349|ENSG00000185404|12477932|NM_138402|88_%7C_1232|PHD_%20_finger_%20_proteins_%7C_Bromodomain_%20_containing|CCDS46538_%2C__%20_CCDS77536_%2C__%20_CCDS77537|OTTHUMG00000153730|93349|617747|NM_001308162|Q9H930|ENSG00000185404|uc010fxm.2|SP14L_HUMAN||Q2M375_%7C_Q4ZG65_%7C_Q9BSP3|Q9H930||nucleus_%20_(GO:0005634)|DNA_%20_binding_%20_(GO:0003677)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.9173_%2C_0.08267|false|false|1||false|true|false|SP140L:93349|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|4973318|231222675|false|false|0|true|0|false|0.929288_%2C_0.0707123|false|false|false|SNV|true|0x050100000a05150537000100|1|false|111|rs4973318|] +2 240084053 rs3791516 T A 540.25 PASS FUNCOTATION=[HDAC4|hg19|chr2|240084053|240084053|INTRON||SNP|T|T|A|g.chr2:240084053T>A|ENST00000345617.3|-|||c.e6-1446A>T|||0.6533665835411472|TGGCTCCTCATCCTGCCCTTT|AC017028.1_ENST00000396489.1_START_CODON_SNP_p.M1L/HDAC4_ENST00000541256.1_INTRON|||||||||||||||||||||||||277|biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(112)_%7C_large_intestine(37)_%7C_lung(1)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(11)|||||||AF132607|NM_006037.3|NP_006028.2|HGNC:14063|histone_%20_deacetylase_%20_4|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|BDMR|"brachydactyly-mental_%20_retardation_%20_syndrome"|KIAA0288_%2C__%20_HDAC-A_%2C__%20_HDACA_%2C__%20_HD4_%2C__%20_HA6116_%2C__%20_HDAC-4||2q37.3|2015-09-11|||AB006626||9759|ENSG00000068024|10206986_%2C__%20_10220385_%2C__%20_20691407|NM_006037|992|Histone_%20_deacetylases_%2C__%20_class_%20_IIA|CCDS2529|OTTHUMG00000133344|9759|605314|NM_006037|P56524|ENSG00000068024|uc002vyk.4|HDAC4_HUMAN||Q9UND6|P56524|B_%20_cell_%20_activation_%20_(GO:0042113)_%7C_B_%20_cell_%20_differentiation_%20_(GO:0030183)_%7C_cardiac_%20_muscle_%20_hypertrophy_%20_in_%20_response_%20_to_%20_stress_%20_(GO:0014898)_%7C_chromatin_%20_remodeling_%20_(GO:0006338)_%7C_histone_%20_deacetylation_%20_(GO:0016575)_%7C_histone_%20_H3_%20_deacetylation_%20_(GO:0070932)_%7C_histone_%20_H4_%20_deacetylation_%20_(GO:0070933)_%7C_inflammatory_%20_response_%20_(GO:0006954)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_glycolytic_%20_process_%20_(GO:0045820)_%7C_negative_%20_regulation_%20_of_%20_myotube_%20_differentiation_%20_(GO:0010832)_%7C_negative_%20_regulation_%20_of_%20_osteoblast_%20_differentiation_%20_(GO:0045668)_%7C_negative_%20_regulation_%20_of_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0043433)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_negative_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045892)_%7C_nervous_%20_system_%20_development_%20_(GO:0007399)_%7C_osteoblast_%20_development_%20_(GO:0002076)_%7C_peptidyl-lysine_%20_deacetylation_%20_(GO:0034983)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_sumoylation_%20_(GO:0033235)_%7C_positive_%20_regulation_%20_of_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0051091)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_regulation_%20_of_%20_cardiac_%20_muscle_%20_contraction_%20_by_%20_calcium_%20_ion_%20_signaling_%20_(GO:0010882)_%7C_regulation_%20_of_%20_gene_%20_expression_%2C__%20_epigenetic_%20_(GO:0040029)_%7C_regulation_%20_of_%20_protein_%20_binding_%20_(GO:0043393)_%7C_regulation_%20_of_%20_skeletal_%20_muscle_%20_fiber_%20_development_%20_(GO:0048742)_%7C_response_%20_to_%20_denervation_%20_involved_%20_in_%20_regulation_%20_of_%20_muscle_%20_adaptation_%20_(GO:0014894)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_response_%20_to_%20_interleukin-1_%20_(GO:0070555)_%7C_skeletal_%20_system_%20_development_%20_(GO:0001501)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351)|A_%20_band_%20_(GO:0031672)_%7C_actomyosin_%20_(GO:0042641)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_histone_%20_deacetylase_%20_complex_%20_(GO:0000118)_%7C_neuromuscular_%20_junction_%20_(GO:0031594)_%7C_nucleus_%20_(GO:0005634)_%7C_transcriptional_%20_repressor_%20_complex_%20_(GO:0017053)_%7C_Z_%20_disc_%20_(GO:0030018)|activating_%20_transcription_%20_factor_%20_binding_%20_(GO:0033613)_%7C_core_%20_promoter_%20_binding_%20_(GO:0001047)_%7C_histone_%20_deacetylase_%20_activity_%20_(GO:0004407)_%7C_histone_%20_deacetylase_%20_binding_%20_(GO:0042826)_%7C_NAD-dependent_%20_histone_%20_deacetylase_%20_activity_%20_(H3-K14_%20_specific)_%20_(GO:0032041)_%7C_NAD-dependent_%20_histone_%20_deacetylase_%20_activity_%20_(H3-K18_%20_specific)_%20_(GO:0097372)_%7C_NAD-dependent_%20_histone_%20_deacetylase_%20_activity_%20_(H3-K9_%20_specific)_%20_(GO:0046969)_%7C_NAD-dependent_%20_histone_%20_deacetylase_%20_activity_%20_(H4-K16_%20_specific)_%20_(GO:0046970)_%7C_potassium_%20_ion_%20_binding_%20_(GO:0030955)_%7C_protein_%20_deacetylase_%20_activity_%20_(GO:0033558)_%7C_repressing_%20_transcription_%20_factor_%20_binding_%20_(GO:0070491)_%7C_transcription_%20_corepressor_%20_activity_%20_(GO:0003714)_%7C_transcription_%20_factor_%20_binding_%20_(GO:0008134)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270)||||true|false|0.9123_%2C_0.08766|false|false|1||false|true|false|HDAC4:9759|false|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3791516|240084053|false|false|0|true|0|false|0.927914_%2C_0.072086|false|false|false|SNV|true|0x050100080005150036000100|1|false|107|rs3791516|] +7 103629803 . T TGCCGCC 3401.98 PASS FUNCOTATION=[RELN|hg19|chr7|103629803|103629804|IN_FRAME_INS||INS|-|-|GCCGCC|g.chr7:103629803_103629804insGCCGCC|ENST00000428762.1|-|1|161|c.0_1insGGCGGC|c.(1-3)atg>GGCGGCatg|p.0_1insGG|0.6975|TGCGCTCCATGCCGCCGCCG|RELN_ENST00000343529.5_IN_FRAME_INS_p.0_1insGG/RELN_ENST00000424685.2_IN_FRAME_INS_p.0_1insGG|NSCLC(146_%3B_835_%20_1944_%20_15585_%20_22231_%20_52158)||||||||||||||||||||||||805|biliary_tract(2)_%7C_breast(32)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(330)_%7C_large_intestine(207)_%7C_pancreas(22)_%7C_stomach(47)_%7C_upper_aerodigestive_tract(121)|||||||U79716|NM_005045.3|NP_005036.2|HGNC:9957|reelin|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||RL_%2C__%20_PRO1598||7q22.1|2016-10-05|||||5649|ENSG00000189056|9049633|NM_005045|||CCDS34722_%2C__%20_CCDS47680|OTTHUMG00000157247|5649|600514|NM_005045|P78509|ENSG00000189056|uc010liz.3|RELN_HUMAN||A4D0P9_%7C_A4D0Q0_%7C_Q86UJ0_%7C_Q86UJ8_%7C_Q8NDV0_%7C_Q9UDQ2|P78509|associative_%20_learning_%20_(GO:0008306)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_brain_%20_development_%20_(GO:0007420)_%7C_cell_%20_adhesion_%20_(GO:0007155)_%7C_cell_%20_morphogenesis_%20_involved_%20_in_%20_differentiation_%20_(GO:0000904)_%7C_central_%20_nervous_%20_system_%20_development_%20_(GO:0007417)_%7C_cerebral_%20_cortex_%20_tangential_%20_migration_%20_(GO:0021800)_%7C_dendrite_%20_development_%20_(GO:0016358)_%7C_glial_%20_cell_%20_differentiation_%20_(GO:0010001)_%7C_hippocampus_%20_development_%20_(GO:0021766)_%7C_lateral_%20_motor_%20_column_%20_neuron_%20_migration_%20_(GO:0097477)_%7C_layer_%20_formation_%20_in_%20_cerebral_%20_cortex_%20_(GO:0021819)_%7C_long-term_%20_memory_%20_(GO:0007616)_%7C_N-methyl-D-aspartate_%20_receptor_%20_clustering_%20_(GO:0097114)_%7C_neuron_%20_migration_%20_(GO:0001764)_%7C_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0018108)_%7C_positive_%20_regulation_%20_of_%20_alpha-amino-3-hydroxy-5-methyl-4-isoxazole_%20_propionate_%20_selective_%20_glutamate_%20_receptor_%20_activity_%20_(GO:2000969)_%7C_positive_%20_regulation_%20_of_%20_CREB_%20_transcription_%20_factor_%20_activity_%20_(GO:0032793)_%7C_positive_%20_regulation_%20_of_%20_dendritic_%20_spine_%20_morphogenesis_%20_(GO:0061003)_%7C_positive_%20_regulation_%20_of_%20_excitatory_%20_postsynaptic_%20_membrane_%20_potential_%20_(GO:2000463)_%7C_positive_%20_regulation_%20_of_%20_lateral_%20_motor_%20_column_%20_neuron_%20_migration_%20_(GO:1902078)_%7C_positive_%20_regulation_%20_of_%20_long-term_%20_synaptic_%20_potentiation_%20_(GO:1900273)_%7C_positive_%20_regulation_%20_of_%20_neuron_%20_projection_%20_development_%20_(GO:0010976)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-tyrosine_%20_phosphorylation_%20_(GO:0050731)_%7C_positive_%20_regulation_%20_of_%20_phosphatidylinositol_%20_3-kinase_%20_signaling_%20_(GO:0014068)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0045860)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_tyrosine_%20_kinase_%20_activity_%20_(GO:0061098)_%7C_positive_%20_regulation_%20_of_%20_small_%20_GTPase_%20_mediated_%20_signal_%20_transduction_%20_(GO:0051057)_%7C_positive_%20_regulation_%20_of_%20_synapse_%20_maturation_%20_(GO:0090129)_%7C_positive_%20_regulation_%20_of_%20_synaptic_%20_transmission_%2C__%20_glutamatergic_%20_(GO:0051968)_%7C_positive_%20_regulation_%20_of_%20_TOR_%20_signaling_%20_(GO:0032008)_%7C_postsynaptic_%20_density_%20_protein_%20_95_%20_clustering_%20_(GO:0097119)_%7C_receptor_%20_localization_%20_to_%20_synapse_%20_(GO:0097120)_%7C_reelin-mediated_%20_signaling_%20_pathway_%20_(GO:0038026)_%7C_regulation_%20_of_%20_behavior_%20_(GO:0050795)_%7C_regulation_%20_of_%20_N-methyl-D-aspartate_%20_selective_%20_glutamate_%20_receptor_%20_activity_%20_(GO:2000310)_%7C_regulation_%20_of_%20_synaptic_%20_transmission_%20_(GO:0050804)_%7C_response_%20_to_%20_pain_%20_(GO:0048265)_%7C_spinal_%20_cord_%20_patterning_%20_(GO:0021511)_%7C_ventral_%20_spinal_%20_cord_%20_development_%20_(GO:0021517)|cytoplasm_%20_(GO:0005737)_%7C_dendrite_%20_(GO:0030425)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_proteinaceous_%20_extracellular_%20_matrix_%20_(GO:0005578)|lipoprotein_%20_particle_%20_receptor_%20_binding_%20_(GO:0070325)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_protein_%20_serine/threonine/tyrosine_%20_kinase_%20_activity_%20_(GO:0004712)_%7C_serine-type_%20_peptidase_%20_activity_%20_(GO:0008236)_%7C_very-low-density_%20_lipoprotein_%20_particle_%20_receptor_%20_binding_%20_(GO:0070326)||||true|false|0.3958_%2C_._%2C_0.6042_%2C_._%2C_._%2C_._%2C_._%2C_._%2C_.|false|false|1||false|false|false|RELN:5649|false|false|false|false|true|true|false|false|false|true|false|false|false|false|false|true|true|false|false|false|587780434|103629803|true|false|1|false|0|false||false|false|true|DIV|true|0x050068400005140026100204|1|false|136|rs587780434|] +7 133812122 . T TAC 88.73 PASS FUNCOTATION=[LRGUK|hg19|chr7|133812122|133812123|START_CODON_INS||INS|-|-|AC|g.chr7:133812122_133812123insAC|ENST00000285928.2|+|1|71|c.2_3insAC|||0.56|TAAACAAGATGGCGACCTCC|LRGUK_ENST00000473068.1_INTRON|||||||||||||||||||||||||271|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(180)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||CH471070|NM_144648.1|NP_653249.1|HGNC:21964|leucine_%20_rich_%20_repeats_%20_and_%20_guanylate_%20_kinase_%20_domain_%20_containing|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene|||FLJ32786_%2C__%20_CFAP246||7q33|2016-06-06||2016-06-06|AK057348||136332|ENSG00000155530|25781171|NM_144648|1491|Cilia_%20_and_%20_flagella_%20_associated|CCDS5830|OTTHUMG00000155320|136332|616478|NM_144648|Q96M69|ENSG00000155530|uc003vrm.2|LRGUK_HUMAN||Q2M3I1|Q96M69||cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)|ATP_%20_binding_%20_(GO:0005524)_%7C_kinase_%20_activity_%20_(GO:0016301)||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false|||] +7 144059763 . A ATGGAGGCTGAGGAGGCCCAGCG 1490.18 PASS FUNCOTATION=[ARHGEF5|hg19|chr7|144059763|144059764|START_CODON_INS||INS|-|-|TGGAGGCTGAGGAGGCCCAGCG|g.chr7:144059763_144059764insTGGAGGCTGAGGAGGCCCAGCG|ENST00000056217.5|+|2|175|c.1_2insTGGAGGCTGAGGAGGCCCAGCG|||0.445|TCAGCCCTGATGGAGGCTGA|ARHGEF5_ENST00000471847.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||183|biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22)|||||||U02082|NM_005435.3|NP_005426.2|HGNC:13209|Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factor_%20_5|Approved|gene_%20_with_%20_protein_%20_product|protein-coding_%20_gene||"Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factor_%20_(GEF)_%20_5"|TIM_%2C__%20_TIM1_%2C__%20_GEF5_%2C__%20_P60|"transforming_%20_immortalized_%20_mammary_%20_oncogene"_%2C__%20_"guanine_%20_nucleotide_%20_regulatory_%20_protein_%20_TIM"|7q35|2015-11-09||2015-11-09|U02082||7984|ENSG00000050327|8134109_%2C__%20_7656213|NM_005435|722|Rho_%20_guanine_%20_nucleotide_%20_exchange_%20_factors|CCDS34771|OTTHUMG00000158004|7984|600888|NM_005435|Q12774|ENSG00000050327|uc003wel.4|ARHG5_HUMAN||A6NNJ2_%7C_Q6ZML7|Q12774|actin_%20_cytoskeleton_%20_organization_%20_(GO:0030036)_%7C_intracellular_%20_signal_%20_transduction_%20_(GO:0035556)_%7C_myeloid_%20_dendritic_%20_cell_%20_chemotaxis_%20_(GO:0002408)_%7C_positive_%20_regulation_%20_of_%20_podosome_%20_assembly_%20_(GO:0071803)_%7C_regulation_%20_of_%20_Rho_%20_GTPase_%20_activity_%20_(GO:0032319)||GTP_%20_binding_%20_(GO:0005525)_%7C_Rho_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0005089)||||true|false||false|false|||false|false|false|ARHGEF5:7984|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|766185415|144059763|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040002000200|1|false|144|rs766185415|] From 2900e011da03ebd33b9627b0451c746f808af7c7 Mon Sep 17 00:00:00 2001 From: meganshand Date: Fri, 3 Nov 2023 10:48:45 -0400 Subject: [PATCH 03/64] Fix for events not in minimal representation (#8567) --- .../hellbender/utils/haplotype/Event.java | 46 ++++++++--- .../walkers/GenotypeGVCFsIntegrationTest.java | 17 ++++ .../walkers/GenotypeGVCFs/bad_dbsnp_site.vcf | 78 ++++++++++++++++++ .../GenotypeGVCFs/bad_dbsnp_site.vcf.idx | Bin 0 -> 312 bytes 4 files changed, 129 insertions(+), 12 deletions(-) create mode 100644 src/test/resources/org/broadinstitute/hellbender/tools/walkers/GenotypeGVCFs/bad_dbsnp_site.vcf create mode 100644 src/test/resources/org/broadinstitute/hellbender/tools/walkers/GenotypeGVCFs/bad_dbsnp_site.vcf.idx diff --git a/src/main/java/org/broadinstitute/hellbender/utils/haplotype/Event.java b/src/main/java/org/broadinstitute/hellbender/utils/haplotype/Event.java index 458e349bd75..695fb2ab468 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/haplotype/Event.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/haplotype/Event.java @@ -6,10 +6,9 @@ import htsjdk.variant.variantcontext.VariantContextBuilder; import org.apache.commons.lang.builder.HashCodeBuilder; import org.broadinstitute.hellbender.utils.Utils; +import picard.sam.util.Pair; -import java.util.Arrays; -import java.util.HashMap; -import java.util.Map; +import java.util.*; /** * Very simple class wrapping VariantContext when we want to be explicit that a variant is biallelic, such as @@ -27,14 +26,39 @@ public class Event implements Locatable { private static final long serialVersionUID = 1L; public Event(final String contig, final int start, final Allele ref, final Allele alt) { - // TODO: Should this instead silently trim to the minimal representation? - Utils.validateArg(ref.length() == 1 || alt.length() == 1 || differentLastBase(ref, alt), "Ref and alt alleles have same last base, hence this event is not in its minimal representation."); Utils.validateArg(ref.isReference(), "ref is not ref"); this.contig = contig; this.start = start; - stop = start + ref.length() - 1; - refAllele = ref; - altAllele = alt; + final Pair minimalAlleles = makeMinimalRepresentation(ref, alt); + refAllele = minimalAlleles.getLeft(); + altAllele = minimalAlleles.getRight(); + stop = start + refAllele.length() - 1; + } + + /** + * Returns a pair of alleles that are in minimal representation (removes identical suffixes) + * @param ref allele not in minimal representation + * @param alt allele not in minimal representation + * @return pair of alleles in minimal representation + */ + private static Pair makeMinimalRepresentation(Allele ref, Allele alt) { + //check for minimal representation + if(ref.length() == 1 || alt.length() == 1 || differentLastBase(ref.getBases(), alt.getBases())) { + return new Pair<>(ref, alt); + } + Utils.validateArg(!ref.basesMatch(alt), "ref and alt alleles are identical"); + final byte[] refBases = ref.getBases(); + final byte[] altBases = alt.getBases(); + int overlapCount = 0; + final int minLen = Math.min(refBases.length, altBases.length); + while (overlapCount < minLen && refBases[refBases.length - 1 - overlapCount] == altBases[altBases.length - 1 - overlapCount]) { + overlapCount++; + } + final byte[] newRefBases = Arrays.copyOf(refBases, ref.getBases().length - overlapCount); + final byte[] newAltBases = Arrays.copyOf(altBases, alt.getBases().length - overlapCount); + final Allele newRefAllele = Allele.create(newRefBases, true); + final Allele newAltAllele = Allele.create(newAltBases, false); + return(new Pair<>(newRefAllele, newAltAllele)); } public static Event ofWithoutAttributes(final VariantContext vc) { @@ -103,10 +127,8 @@ public int hashCode() { return new HashCodeBuilder().append(start).append(refAllele).append(altAllele).hashCode(); } - private static boolean differentLastBase(final Allele ref, final Allele alt) { - final byte[] refBases = ref.getBases(); - final byte[] altBases = alt.getBases(); - return refBases.length == 0 || altBases.length == 0 || refBases[refBases.length-1] != altBases[altBases.length-1]; + private static boolean differentLastBase(final byte[] ref, final byte[] alt) { + return ref.length == 0 || alt.length == 0 || ref[ref.length-1] != alt[alt.length-1]; } @Override diff --git a/src/test/java/org/broadinstitute/hellbender/tools/walkers/GenotypeGVCFsIntegrationTest.java b/src/test/java/org/broadinstitute/hellbender/tools/walkers/GenotypeGVCFsIntegrationTest.java index 698e99968da..f8216cffe62 100644 --- a/src/test/java/org/broadinstitute/hellbender/tools/walkers/GenotypeGVCFsIntegrationTest.java +++ b/src/test/java/org/broadinstitute/hellbender/tools/walkers/GenotypeGVCFsIntegrationTest.java @@ -959,4 +959,21 @@ public void testBadKeepAnnotationArg() { // This is expected to fail because RawGtCount was not provided as a tool level annotation (-A). runCommandLine(args); } + + // test case adapted from non-minimally represented site in dbsnp_138 at chr10:46544983 + @Test + public void dbSNPError() { + final String input = getTestDataDir() + "/walkers/GnarlyGenotyper/emptyASAnnotations.g.vcf"; + final String dbSnpInput = getToolTestDataDir() + "bad_dbsnp_site.vcf"; + final File output = createTempFile("test", ".vcf"); + + final ArgumentsBuilder args = new ArgumentsBuilder(); + args.addReference(hg38Reference) + .addVCF(input) + .addOutput(output) + .add("D", dbSnpInput); + + //make sure it doesn't throw an error + runCommandLine(args); + } } diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/walkers/GenotypeGVCFs/bad_dbsnp_site.vcf b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/GenotypeGVCFs/bad_dbsnp_site.vcf new file mode 100644 index 00000000000..137d801e726 --- /dev/null +++ b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/GenotypeGVCFs/bad_dbsnp_site.vcf @@ -0,0 +1,78 @@ +##fileformat=VCFv4.2 +##FILTER= +##GATKCommandLine= +##GATKCommandLine= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO== 1% and for which 2 or more founders contribute to that minor allele frequency."> +##INFO= +##INFO= +##INFO=5% minor allele frequency in 1+ populations"> +##INFO=5% minor allele frequency in each and all populations"> +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO=SubSNP->Batch.link_out"> +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##contig= +##dbSNP_BUILD_ID=138 +##fileDate=20130806 +##phasing=partial +##source=SelectVariants +##source=dbSNP +##variationPropertyDocumentationUrl=ftp://ftp.ncbi.nlm.nih.gov/snp/specs/dbSNP_BitField_latest.pdf +#CHROM POS ID REF ALT QUAL FILTER INFO +chr7 2377548 rs71520986 ACG CAG . PASS GNO;OTHERKG;RS=71520986;RSPOS=47004633;SAO=0;SLO;SSR=0;VC=MNV;VP=0x050100000001000102000800;WGT=1;dbSNPBuildID=130 diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/walkers/GenotypeGVCFs/bad_dbsnp_site.vcf.idx b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/GenotypeGVCFs/bad_dbsnp_site.vcf.idx new file mode 100644 index 0000000000000000000000000000000000000000..8ba2c004841eca37246d835225682351ab96b216 GIT binary patch literal 312 zcmZ8dOHRWu5FIG@V9To03M3>}gv1S%AV|fD*jY(DZLEg4@;D&Qz@<0{7vL7ysM+wO z(P-YA&(p|t_HqIMvk+U;(+wh)OpfuDyL!-=8{dr$?rOhBb}f2hkB-=mt|dn6cGx&u zYcsGne)NPL^?gHwCWqeIp7Fiz_igWf<=&GkDBJHWV23+RQxFunLd?; cgeAm7ZRf55ZqMN~6!8}kQMfx=n(}1v7yJcM9RL6T literal 0 HcmV?d00001 From 683eaa88a273a2496e5f755872b39386f4f799cb Mon Sep 17 00:00:00 2001 From: Dror Kessler Date: Mon, 13 Nov 2023 13:53:28 +0000 Subject: [PATCH 04/64] Ultima.flow annotations.fix (#8442) * hmer ondel must have mon length * Revert "hmer ondel must have mon length" This reverts commit 7852871f7d144a5f622777cebdc4b0c3cc22b3b2. * remove superfluous variant type condition * fix error message to actually reflect missing argument * fixed unittest to include variant type * Remove conflict --- .../tools/walkers/annotator/flow/FlowAnnotatorBase.java | 3 ++- 1 file changed, 2 insertions(+), 1 deletion(-) diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/flow/FlowAnnotatorBase.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/flow/FlowAnnotatorBase.java index 0c4a07f015a..acf1c74bf9c 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/flow/FlowAnnotatorBase.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/flow/FlowAnnotatorBase.java @@ -4,6 +4,7 @@ import htsjdk.variant.variantcontext.VariantContext; import org.apache.logging.log4j.LogManager; import org.apache.logging.log4j.Logger; +import org.broadinstitute.hellbender.cmdline.StandardArgumentDefinitions; import org.broadinstitute.hellbender.engine.ReferenceContext; import org.broadinstitute.hellbender.exceptions.GATKException; import org.broadinstitute.hellbender.tools.walkers.annotator.InfoFieldAnnotation; @@ -149,7 +150,7 @@ private String establishReadGroupFlowOrder(final LocalContext localContext, fina // if here, no flow order was found. may we use a default? if ( isActualFlowOrderRequired() ) { localContext.generateAnnotation = false; - flowMissingOneShotLogger.warn("this.getClass().getSimpleName() + \" annotation will not be calculated, no '\" + StandardArgumentDefinitions.FLOW_ORDER_FOR_ANNOTATIONS + \"' argument provided\""); + flowMissingOneShotLogger.warn(this.getClass().getSimpleName() + " annotation will not be calculated, no '" + StandardArgumentDefinitions.FLOW_ORDER_FOR_ANNOTATIONS + "' argument provided"); } return FlowBasedRead.DEFAULT_FLOW_ORDER; From e6e4deae3bd6d303a9e6b6ed849213744b3245a6 Mon Sep 17 00:00:00 2001 From: Ilya Soifer Date: Mon, 13 Nov 2023 20:05:38 +0200 Subject: [PATCH 05/64] Removes unnecessary and buggy validation check (#8580) * Additional fix + logging fixes * Added missing initialization --- .../haplotypecaller/AlleleFiltering.java | 2 +- .../hellbender/utils/read/FlowBasedRead.java | 17 +++-------------- .../utils/read/FlowBasedReadUtils.java | 2 +- 3 files changed, 5 insertions(+), 16 deletions(-) diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/AlleleFiltering.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/AlleleFiltering.java index 17728fa6035..ebc0f61d3f6 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/AlleleFiltering.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/AlleleFiltering.java @@ -340,7 +340,7 @@ private AlleleLikelihoods getAlleleLikelihoodMatrix(final Alle .forEach(alleleHaplotypeMap.get(notAllele)::add); final AlleleLikelihoods alleleLikelihoods = readLikelihoods.marginalize(alleleHaplotypeMap); - logger.debug(() -> String.format("GALM: %s %d %d", allele.toString(), alleleHaplotypeMap.get(allele).size(), alleleHaplotypeMap.get(notAllele).size())); + logger.debug(() -> String.format("GALM: %s %d %d", allele, alleleHaplotypeMap.get(allele.altAllele()).size(), alleleHaplotypeMap.get(notAllele).size())); return alleleLikelihoods; } diff --git a/src/main/java/org/broadinstitute/hellbender/utils/read/FlowBasedRead.java b/src/main/java/org/broadinstitute/hellbender/utils/read/FlowBasedRead.java index 75a30c2a8d3..273761b0318 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/read/FlowBasedRead.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/read/FlowBasedRead.java @@ -41,7 +41,7 @@ public class FlowBasedRead extends SAMRecordToGATKReadAdapter implements GATKRea public static final int MAX_CLASS = 12; //note - this is a historical value to support files with max class is not defined in the header, it is expected that mc tag exists in the CRAM public static final String DEFAULT_FLOW_ORDER = "TGCA"; private static final long serialVersionUID = 42L; - private final Logger logger = LogManager.getLogger(this.getClass()); + private static final Logger logger = LogManager.getLogger(FlowBasedRead.class); private static final OneShotLogger vestigialOneShotLogger = new OneShotLogger(FlowBasedRead.class); // constants @@ -117,7 +117,7 @@ public class FlowBasedRead extends SAMRecordToGATKReadAdapter implements GATKRea * The validity status of the key. Certain operations may produce undefined/errornous results. This is signaled by * the read being marked with a validKey == false */ - private boolean validKey; + private boolean validKey = true; /** * The direction of this read. After being red, the direction will also swing to be REFERENCE @@ -248,7 +248,6 @@ public FlowBasedRead(final SAMRecord samRecord, final String flowOrder, final in logger.debug(" key: " + FlowBasedKeyCodec.keyAsString(key)); } - validateSequence(); } //since the last unclipped flow is uncertain (we give high probabilities to @@ -428,16 +427,6 @@ private int[] getAttributeAsIntArray(final String attributeName, final boolean i } } - - private void validateSequence(){ - for (final int b : key) { - if (b > maxHmer - 1) { - validKey = false; - } - } - validKey = true; - } - public boolean isValid() { return validKey; } @@ -584,6 +573,7 @@ public void applyBaseClipping(final int clipLeftBase, final int clipRightBase, b } else { applyClipping(clipLeft, leftHmerClip, clipRight, rightHmerClip, spread); baseClipped = true; + validKey = true; trimLeftBase = clipLeftBase; trimRightBase = clipRightBase; } @@ -1109,7 +1099,6 @@ private void readVestigialFlowMatrixFromKR(final String _flowOrder) { final double [] kdProbs = phredToProb(kd); fillFlowMatrix( kh, kf, kdProbs); applyFilteringFlowMatrix(); - validateSequence(); } } diff --git a/src/main/java/org/broadinstitute/hellbender/utils/read/FlowBasedReadUtils.java b/src/main/java/org/broadinstitute/hellbender/utils/read/FlowBasedReadUtils.java index d7a7a76faaf..ff009611521 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/read/FlowBasedReadUtils.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/read/FlowBasedReadUtils.java @@ -303,7 +303,7 @@ public static int getMarkDupReadStart(final GATKRead gatkRead, final boolean end hmersLeft--; } - int hmerSize = 1; + int hmerSize = 1; for ( ; hmerSize < bases.length ; hmerSize++ ) if (bases[hmerSize] != hmerBase) { if ( --hmersLeft <= 0 ) From 1dc7ee4ee10ba17c13e313aece4818c50b25f384 Mon Sep 17 00:00:00 2001 From: droazen Date: Tue, 14 Nov 2023 17:07:32 -0500 Subject: [PATCH 06/64] Update our HTSJDK dependency to 4.0.2 (#8584) --- build.gradle | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/build.gradle b/build.gradle index b24e95fe81b..c32be229f16 100644 --- a/build.gradle +++ b/build.gradle @@ -56,7 +56,7 @@ repositories { mavenLocal() } -final htsjdkVersion = System.getProperty('htsjdk.version','3.0.5') +final htsjdkVersion = System.getProperty('htsjdk.version','4.0.2') final picardVersion = System.getProperty('picard.version','3.1.0') final barclayVersion = System.getProperty('barclay.version','5.0.0') final sparkVersion = System.getProperty('spark.version', '3.3.1') From 7a087544e9e3ab48a454ea98ea86660aee930eae Mon Sep 17 00:00:00 2001 From: Louis Bergelson Date: Wed, 15 Nov 2023 12:46:50 -0500 Subject: [PATCH 07/64] Update picard to 3.1.1 (#8585) --- build.gradle | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/build.gradle b/build.gradle index c32be229f16..f9c05012bb8 100644 --- a/build.gradle +++ b/build.gradle @@ -57,7 +57,7 @@ repositories { } final htsjdkVersion = System.getProperty('htsjdk.version','4.0.2') -final picardVersion = System.getProperty('picard.version','3.1.0') +final picardVersion = System.getProperty('picard.version','3.1.1') final barclayVersion = System.getProperty('barclay.version','5.0.0') final sparkVersion = System.getProperty('spark.version', '3.3.1') final hadoopVersion = System.getProperty('hadoop.version', '3.3.1') From fa3dfed3656dac13816cbafb567e6320c9fd4531 Mon Sep 17 00:00:00 2001 From: Chris Macdonald <17653365+odcambc@users.noreply.github.com> Date: Sun, 26 Nov 2023 12:27:25 -0600 Subject: [PATCH 08/64] Add option to AnalyzeSaturationMutagenesis to keep disjoint mates (#8557) * Add option for keeping disjoint mates in ASM * Better name and fixing reports * Finish fixing report * Fix report name --- .../hellbender/tools/AnalyzeSaturationMutagenesis.java | 10 +++++++++- 1 file changed, 9 insertions(+), 1 deletion(-) diff --git a/src/main/java/org/broadinstitute/hellbender/tools/AnalyzeSaturationMutagenesis.java b/src/main/java/org/broadinstitute/hellbender/tools/AnalyzeSaturationMutagenesis.java index 007918fb234..45373fc1efd 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/AnalyzeSaturationMutagenesis.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/AnalyzeSaturationMutagenesis.java @@ -131,6 +131,9 @@ public final class AnalyzeSaturationMutagenesis extends GATKTool { @Argument(doc = "paired mode evaluation of variants (combine mates, when possible)", fullName = "paired-mode") private static boolean pairedMode = true; + @Argument(doc = "don't discard disjoint mates (i.e., combine variants from both reads)", fullName = "dont-ignore-disjoint-pairs") + private static boolean noIgnoreDisjointPairs = false; + @Argument(doc = "write BAM of rejected reads", fullName = "write-rejected-reads") private static boolean writeRejectedReads = false; @@ -1948,7 +1951,11 @@ private static Interval calculateShortFragmentTrim( final GATKRead read, final I read2.setAttribute(ReportType.REPORT_TYPE_ATTRIBUTE_KEY, reportType.attributeValue); rejectedReadsBAMWriter.addRead(read2); } - } else { // mates are disjoint + } else if (noIgnoreDisjointPairs) { // mates are disjoint, process both + final ReadReport combinedReport = new ReadReport(report1, report2); + final ReportType reportType = combinedReport.updateCounts(codonTracker, variationCounts, reference); + disjointPairCounts.bumpCount(reportType); + } else { // mates are disjoint, use the first one final ReportType ignoredMate = ReportType.IGNORED_MATE; if ( read1.isFirstOfPair() ) { processReport(read1, report1, disjointPairCounts); @@ -1968,6 +1975,7 @@ private static Interval calculateShortFragmentTrim( final GATKRead read, final I } } + private static void processReport( final GATKRead read, final ReadReport readReport, final ReportTypeCounts counts ) { From 0da6409fc8281da474d9fb6e8b49e49e9f7f387f Mon Sep 17 00:00:00 2001 From: Dror Kessler Date: Tue, 28 Nov 2023 21:46:41 +0200 Subject: [PATCH 09/64] New/Updated Flow Based Read tools (#8579) New Tool: GroundTruthScorer Update: FlowFeatureMapper --- .../featuremapping/FlowFeatureMapper.java | 135 ++- .../FlowFeatureMapperArgumentCollection.java | 16 +- .../walkers/featuremapping/SNVMapper.java | 84 +- .../groundtruth/GroundTruthScorer.java | 832 ++++++++++++++++++ .../walkers/groundtruth/SeriesStats.java | 112 +++ .../utils/read/FlowBasedReadUtils.java | 74 +- .../FlowFeatureMapperIntegrationTest.java | 106 ++- .../GroundTruthScorerIntegrationTest.java | 183 ++++ .../snv_feature_mapper_output.vcf | 4 +- .../snv_feature_mapper_output.vcf.idx | 2 +- .../snv_feature_mapper_qc_failed_output.vcf | 3 + ...nv_feature_mapper_qc_failed_output.vcf.idx | 3 + ..._feature_mapper_report_all_alts_output.vcf | 3 + ...ture_mapper_report_all_alts_output.vcf.idx | 3 + .../snv_feature_mapper_tag_adjs_output.vcf | 3 + ...snv_feature_mapper_tag_adjs_output.vcf.idx | 3 + .../large/groundTruth/dbsnp.chr9.vcf.gz | 3 + .../large/groundTruth/dbsnp.chr9.vcf.gz.tbi | 3 + .../large/groundTruth/genome_prior.csv | 3 + .../ground_truth_scorer_output.csv | 3 + .../ground_truth_scorer_output_filter.csv | 3 + ...round_truth_scorer_output_genome_prior.csv | 3 + .../ground_truth_scorer_output_meancall.csv | 3 + .../ground_truth_scorer_output_report.txt | 3 + .../ground_truth_scorer_output_unclipped.csv | 3 + 25 files changed, 1551 insertions(+), 42 deletions(-) create mode 100644 src/main/java/org/broadinstitute/hellbender/tools/walkers/groundtruth/GroundTruthScorer.java create mode 100644 src/main/java/org/broadinstitute/hellbender/tools/walkers/groundtruth/SeriesStats.java create mode 100644 src/test/java/org/broadinstitute/hellbender/tools/walkers/groundtruth/GroundTruthScorerIntegrationTest.java create mode 100644 src/test/resources/large/featureMapping/snv_feature_mapper_qc_failed_output.vcf create mode 100644 src/test/resources/large/featureMapping/snv_feature_mapper_qc_failed_output.vcf.idx create mode 100644 src/test/resources/large/featureMapping/snv_feature_mapper_report_all_alts_output.vcf create mode 100644 src/test/resources/large/featureMapping/snv_feature_mapper_report_all_alts_output.vcf.idx create mode 100644 src/test/resources/large/featureMapping/snv_feature_mapper_tag_adjs_output.vcf create mode 100644 src/test/resources/large/featureMapping/snv_feature_mapper_tag_adjs_output.vcf.idx create mode 100644 src/test/resources/large/groundTruth/dbsnp.chr9.vcf.gz create mode 100644 src/test/resources/large/groundTruth/dbsnp.chr9.vcf.gz.tbi create mode 100644 src/test/resources/large/groundTruth/genome_prior.csv create mode 100644 src/test/resources/large/groundTruth/ground_truth_scorer_output.csv create mode 100644 src/test/resources/large/groundTruth/ground_truth_scorer_output_filter.csv create mode 100644 src/test/resources/large/groundTruth/ground_truth_scorer_output_genome_prior.csv create mode 100644 src/test/resources/large/groundTruth/ground_truth_scorer_output_meancall.csv create mode 100644 src/test/resources/large/groundTruth/ground_truth_scorer_output_report.txt create mode 100644 src/test/resources/large/groundTruth/ground_truth_scorer_output_unclipped.csv diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/featuremapping/FlowFeatureMapper.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/featuremapping/FlowFeatureMapper.java index b3ddc3e21b6..2014ce3030e 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/featuremapping/FlowFeatureMapper.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/featuremapping/FlowFeatureMapper.java @@ -2,12 +2,14 @@ import htsjdk.samtools.*; import htsjdk.samtools.util.Locatable; +import htsjdk.samtools.util.SequenceUtil; import htsjdk.variant.variantcontext.Allele; import htsjdk.variant.variantcontext.VariantContext; import htsjdk.variant.variantcontext.VariantContextBuilder; import htsjdk.variant.variantcontext.writer.Options; import htsjdk.variant.variantcontext.writer.VariantContextWriter; import htsjdk.variant.vcf.*; +import org.apache.commons.lang3.StringUtils; import org.apache.commons.math3.util.Precision; import org.apache.logging.log4j.LogManager; import org.apache.logging.log4j.Logger; @@ -81,6 +83,19 @@ @ExperimentalFeature public final class FlowFeatureMapper extends ReadWalker { + static class CopyAttrInfo { + public final String name; + public final VCFHeaderLineType type; + public final String desc; + + public CopyAttrInfo(final String spec) { + final String[] toks = spec.split(","); + name = toks[0]; + type = toks.length > 1 ? VCFHeaderLineType.valueOf(toks[1]) : VCFHeaderLineType.String; + desc = toks.length > 2 ? StringUtils.join(Arrays.copyOfRange(toks, 2, toks.length), ",") : ("copy-attr: " + name); + } + } + private static final Logger logger = LogManager.getLogger(FlowFeatureMapper.class); private static final String VCB_SOURCE = "fm"; @@ -101,8 +116,18 @@ public final class FlowFeatureMapper extends ReadWalker { private static final String VCF_SMQ_RIGHT = "X_SMQ_RIGHT"; private static final String VCF_SMQ_LEFT_MEAN = "X_SMQ_LEFT_MEAN"; private static final String VCF_SMQ_RIGHT_MEAN = "X_SMQ_RIGHT_MEAN"; + private static final String VCF_ADJACENT_REF_DIFF = "X_ADJACENT_REF_DIFF"; + private static final Double LOWEST_PROB = 0.0001; + private static final int VENDOR_QUALITY_CHECK_FLAG = 0x200; + + private static final String INCLUDE_QC_FAILED_READS_FULL_NAME = "include-qc-failed-reads"; + + final private List copyAttrInfo = new LinkedList<>(); + + // order here is according to SequenceUtil.VALID_BASES_UPPER + final private String scoreForBaseNames[] = new String[SequenceUtil.VALID_BASES_UPPER.length]; @Argument(fullName = StandardArgumentDefinitions.OUTPUT_LONG_NAME, shortName = StandardArgumentDefinitions.OUTPUT_SHORT_NAME, @@ -131,6 +156,10 @@ public final class FlowFeatureMapper extends ReadWalker { @Argument(fullName=HaplotypeCallerArgumentCollection.OUTPUT_BLOCK_LOWER_BOUNDS, doc = "Output the band lower bound for each GQ block regardless of the data it represents", optional = true) public boolean floorBlocks = false; + @Advanced + @Argument(fullName=INCLUDE_QC_FAILED_READS_FULL_NAME, doc = "include reads with QC failed flag", optional = true) + public boolean includeQcFailedReads = false; + @ArgumentCollection public FlowBasedArgumentCollection fbargs = new FlowBasedArgumentCollection(); @@ -175,6 +204,9 @@ protected static class MappedFeature implements Comparable { int smqLeftMean; int smqRightMean; + double scoreForBase[]; + boolean adjacentRefDiff; + public MappedFeature(GATKRead read, FlowFeatureMapperArgumentCollection.MappingFeatureEnum type, byte[] readBases, byte[] refBases, int readBasesOffset, int start, int offsetDelta) { this.read = read; @@ -315,8 +347,20 @@ public VCFHeader makeVCFHeader(final SAMSequenceDictionary sequenceDictionary, f headerInfo.add(new VCFInfoHeaderLine(VCF_SMQ_RIGHT, 1, VCFHeaderLineType.Integer, "Ordinal Median quality of N bases to the right of the feature")); headerInfo.add(new VCFInfoHeaderLine(VCF_SMQ_LEFT_MEAN, 1, VCFHeaderLineType.Integer, "Ordinal Mean quality of N bases to the left of the feature")); headerInfo.add(new VCFInfoHeaderLine(VCF_SMQ_RIGHT_MEAN, 1, VCFHeaderLineType.Integer, "Ordinal Mean quality of N bases to the right of the feature")); - for ( String name : fmArgs.copyAttr ) { - headerInfo.add(new VCFInfoHeaderLine(fmArgs.copyAttrPrefix + name, 1, VCFHeaderLineType.String, "copy-attr: " + name)); + for ( String spec : fmArgs.copyAttr ) { + final CopyAttrInfo info = new CopyAttrInfo(spec); + headerInfo.add(new VCFInfoHeaderLine(fmArgs.copyAttrPrefix + info.name, 1, info.type, info.desc)); + copyAttrInfo.add(info); + } + + // validation mode? + if ( fmArgs.reportAllAlts ) { + for ( int baseIndex = 0 ; baseIndex < SequenceUtil.VALID_BASES_UPPER.length ; baseIndex++ ) { + headerInfo.add(new VCFInfoHeaderLine(scoreNameForBase(baseIndex), 1, VCFHeaderLineType.Float, "Base specific mapping score")); + } + } + if ( fmArgs.reportAllAlts || fmArgs.tagBasesWithAdjacentRefDiff ) { + headerInfo.add(new VCFInfoHeaderLine(VCF_ADJACENT_REF_DIFF, 1, VCFHeaderLineType.Flag, "Adjacent base filter indication: indel in the adjacent 5 bases to the considered base on the read")); } final VCFHeader vcfHeader = new VCFHeader(headerInfo); @@ -324,6 +368,13 @@ public VCFHeader makeVCFHeader(final SAMSequenceDictionary sequenceDictionary, f return vcfHeader; } + private String scoreNameForBase(int baseIndex) { + if ( scoreForBaseNames[baseIndex] == null ) { + scoreForBaseNames[baseIndex] = VCF_SCORE + "_" + new String(new byte[]{SequenceUtil.VALID_BASES_UPPER[baseIndex]}); + } + return scoreForBaseNames[baseIndex]; + } + @Override public void apply(final GATKRead read, final ReferenceContext referenceContext, final FeatureContext featureContext) { @@ -337,6 +388,11 @@ public void apply(final GATKRead read, final ReferenceContext referenceContext, return; } + // include qc-failed reads? + if ( ((read.getFlags() & VENDOR_QUALITY_CHECK_FLAG) != 0) && !includeQcFailedReads ) { + return; + } + // flush qeues up to this read flushQueue(read, referenceContext); @@ -349,6 +405,20 @@ public void apply(final GATKRead read, final ReferenceContext referenceContext, // score the feature fr.score = scoreFeature(fr); + // score for validation mode? + if ( fmArgs.reportAllAlts) { + fr.scoreForBase = new double[SequenceUtil.VALID_BASES_UPPER.length]; + for ( int baseIndex = 0 ; baseIndex < fr.scoreForBase.length ; baseIndex++ ) { + final byte base = SequenceUtil.VALID_BASES_UPPER[baseIndex]; + boolean incl = base != fr.readBases[0]; + if ( incl ) { + fr.scoreForBase[baseIndex] = scoreFeature(fr, base); + } else { + fr.scoreForBase[baseIndex] = Double.NaN; + } + } + } + // emit feature if filters in if ( filterFeature(fr) ) { featureQueue.add(fr); @@ -413,14 +483,17 @@ private void enrichFeature(final MappedFeature fr) { } private double scoreFeature(final MappedFeature fr) { + return scoreFeature(fr, (byte)0); + } + private double scoreFeature(final MappedFeature fr, byte altBase) { // build haplotypes final FlowBasedReadUtils.ReadGroupInfo rgInfo = FlowBasedReadUtils.getReadGroupInfo(getHeaderForReads(), fr.read); - final FlowBasedHaplotype[] haplotypes = buildHaplotypes(fr, rgInfo.flowOrder); + final FlowBasedHaplotype[] haplotypes = buildHaplotypes(fr, rgInfo.flowOrder, altBase); // create flow read - final FlowBasedRead flowRead = new FlowBasedRead(fr.read, rgInfo.flowOrder, - rgInfo.maxClass, fbargs); + final FlowBasedRead flowRead = new FlowBasedRead(fr.read, rgInfo.flowOrder, rgInfo.maxClass, fbargs); + final int diffLeft = haplotypes[0].getStart() - flowRead.getStart() + fr.offsetDelta; final int diffRight = flowRead.getEnd() - haplotypes[0].getEnd(); flowRead.applyBaseClipping(Math.max(0, diffLeft), Math.max(diffRight, 0), false); @@ -524,16 +597,24 @@ public static double computeLikelihoodLocal(final FlowBasedRead read, final Flow return result; } - private FlowBasedHaplotype[] buildHaplotypes(final MappedFeature fr, final String flowOrder) { + private FlowBasedHaplotype[] buildHaplotypes(final MappedFeature fr, final String flowOrder, byte altBase) { // build bases for flow haplotypes // NOTE!!!: this code assumes length of feature on read and reference is the same // this is true for SNP but not for INDELs - it will have to be re-written! // TODO: write for INDEL - final byte[] bases = fr.read.getBasesNoCopy(); + byte[] bases = fr.read.getBasesNoCopy(); int offset = fr.readBasesOffset; int refStart = fr.start; int refModOfs = 0; + + // install alt base? + byte orgBase = 0; + if ( altBase != 0 ) { + orgBase = fr.refBases[0]; + fr.refBases[0] = altBase; + } + if ( offset > 0 ) { // reach into hmer before offset--; @@ -569,6 +650,11 @@ private FlowBasedHaplotype[] buildHaplotypes(final MappedFeature fr, final Strin new FlowBasedHaplotype(refHaplotype, flowOrder) }; + // restore changes + if ( altBase != 0 ) { + fr.refBases[0] = orgBase; + } + // return return result; } @@ -590,7 +676,11 @@ private void emitFeature(final MappedFeature fr) { // create alleles final Collection alleles = new LinkedList<>(); - alleles.add(Allele.create(fr.readBases, false)); + if ( fmArgs.reportAllAlts && Arrays.equals(fr.readBases, fr.refBases) ) { + alleles.add(Allele.create("*".getBytes(), false)); + } else { + alleles.add(Allele.create(fr.readBases, false)); + } alleles.add(Allele.create(fr.refBases, true)); // create variant context builder @@ -625,11 +715,34 @@ private void emitFeature(final MappedFeature fr) { vcb.attribute(VCF_SMQ_RIGHT_MEAN, fr.smqRightMean); } - for ( String name : fmArgs.copyAttr ) { - if ( fr.read.hasAttribute(name) ) { - vcb.attribute(fmArgs.copyAttrPrefix + name, fr.read.getAttributeAsString(name)); + for ( CopyAttrInfo info : copyAttrInfo ) { + if ( fr.read.hasAttribute(info.name) ) { + final String attrName = fmArgs.copyAttrPrefix + info.name; + if ( info.type == VCFHeaderLineType.Integer ) { + vcb.attribute(attrName, fr.read.getAttributeAsInteger(info.name)); + } else if ( info.type == VCFHeaderLineType.Float ) { + vcb.attribute(attrName, fr.read.getAttributeAsFloat(info.name)); + } else { + vcb.attribute(attrName, fr.read.getAttributeAsString(info.name)); + } + } + } + + // validation mode? + if ( fmArgs.reportAllAlts ) { + if ( fr.scoreForBase != null ) { + for (int baseIndex = 0; baseIndex < SequenceUtil.VALID_BASES_UPPER.length; baseIndex++) { + if (!Double.isNaN(fr.scoreForBase[baseIndex])) { + vcb.attribute(scoreNameForBase(baseIndex), String.format("%.5f", fr.scoreForBase[baseIndex])); + } + } } } + if ( fr.adjacentRefDiff ) { + vcb.attribute(VCF_ADJACENT_REF_DIFF, true); + } + + // build it! final VariantContext vc = vcb.make(); // write to file diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/featuremapping/FlowFeatureMapperArgumentCollection.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/featuremapping/FlowFeatureMapperArgumentCollection.java index 22c13b00878..03660746d2b 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/featuremapping/FlowFeatureMapperArgumentCollection.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/featuremapping/FlowFeatureMapperArgumentCollection.java @@ -32,7 +32,7 @@ enum MappingFeatureEnum { /** * attributes to copy from bam **/ - @Argument(fullName = "copy-attr", doc = "attributes to copy from bam", optional = true) + @Argument(fullName = "copy-attr", doc = "attributes to copy from bam. format ,,. types: Integer, Float, String, Character, Flag", optional = true) public List copyAttr = new LinkedList<>(); /** @@ -116,4 +116,18 @@ enum MappingFeatureEnum { @Hidden @Argument(fullName = "surrounding-mean-quality-size", doc = "number of bases around the feature to calculate surrounding mean quality", optional = true) public Integer surroundingMeanQualitySize = null; + + /** + * validation mode - if not specified, this feature is off + **/ + @Hidden + @Argument(fullName = "report-all-alts", doc = "In this mode (aka validation mode), every base of every read in the input CRAM and interval is reported, and an X_SCORE value is calculated for all 3 possible alts", optional = true) + public boolean reportAllAlts = false; + + /** + * adjacent-ref-diff mode - if not specified, this feature is off + **/ + @Hidden + @Argument(fullName = "tag-bases-with-adjacent-ref-diff", doc = "In this mode bases that have an adjacent difference from the reference on the same read are not discarded, and tagged with X_ADJACENT_REF_DIFFm", optional = true) + public boolean tagBasesWithAdjacentRefDiff = false; } diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/featuremapping/SNVMapper.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/featuremapping/SNVMapper.java index 05c952c317a..dcc8b6c450f 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/featuremapping/SNVMapper.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/featuremapping/SNVMapper.java @@ -21,22 +21,34 @@ public class SNVMapper implements FeatureMapper { - final int identBefore; - final int identAfter; + final int surroundBefore; + final int surroundAfter; final int minCigarElementLength; final LevenshteinDistance levDistance = new LevenshteinDistance(); final Integer smqSize; final Integer smqSizeMean; + final boolean ignoreSurround; + final int spanBefore; + final int spanAfter; + + final FlowFeatureMapperArgumentCollection fmArgs; + public SNVMapper(FlowFeatureMapperArgumentCollection fmArgs) { - identBefore = fmArgs.snvIdenticalBases; - identAfter = (fmArgs.snvIdenticalBasesAfter != 0) ? fmArgs.snvIdenticalBasesAfter : identBefore; - minCigarElementLength = identBefore + 1 + identAfter; + surroundBefore = fmArgs.snvIdenticalBases; + surroundAfter = (fmArgs.snvIdenticalBasesAfter != 0) ? fmArgs.snvIdenticalBasesAfter : surroundBefore; smqSize = fmArgs.surroundingMediaQualitySize; smqSizeMean = fmArgs.surroundingMeanQualitySize; + this.fmArgs = fmArgs; + + // ignore surround + ignoreSurround = fmArgs.reportAllAlts || fmArgs.tagBasesWithAdjacentRefDiff; + spanBefore = ignoreSurround ? 0 : surroundBefore; + spanAfter = ignoreSurround ? 0 : surroundAfter; + minCigarElementLength = spanBefore + 1 + spanAfter; // adjust minimal read length - FlowBasedRead.setMinimalReadLength(1 + 1 + identAfter); + FlowBasedRead.setMinimalReadLength(1 + 1 + spanAfter); } @Override @@ -93,30 +105,44 @@ public void forEachOnRead(GATKRead read, ReferenceContext referenceContext, Cons if ( length >= minCigarElementLength && cigarElement.getOperator().consumesReadBases() && cigarElement.getOperator().consumesReferenceBases() ) { - readOfs += identBefore; - refOfs += identBefore; - for ( int ofs = identBefore ; ofs < length - identAfter ; ofs++, readOfs++, refOfs++ ) { + readOfs += spanBefore; + refOfs += spanBefore; + for ( int ofs = spanBefore ; ofs < length - spanAfter ; ofs++, readOfs++, refOfs++ ) { - if ( ref[refOfs] != 'N' && bases[readOfs] != ref[refOfs] ) { + if ( ref[refOfs] != 'N' && (fmArgs.reportAllAlts || (bases[readOfs] != ref[refOfs])) ) { // check that this is really a SNV (must be surrounded by identical ref) boolean surrounded = true; - for ( int i = 0 ; i < identBefore && surrounded ; i++ ) { - if ( bases[readOfs-1-i] != ref[refOfs-1-i] ) { + for ( int i = 0 ; i < surroundBefore && surrounded ; i++ ) { + final int bIndex = readOfs-1-i; + final int rIndex = refOfs-1-i; + if ( bIndex < 0 || bIndex >= bases.length || rIndex < 0 || rIndex >= ref.length ) { + surrounded = false; + continue; + } + if ( bases[bIndex] != ref[rIndex] ) { surrounded = false; } } - for ( int i = 0 ; i < identAfter && surrounded ; i++ ) { - if ( bases[readOfs+1+i] != ref[refOfs+1+i] ) { + for (int i = 0; i < surroundAfter && surrounded ; i++ ) { + final int bIndex = readOfs+1+i; + final int rIndex = refOfs+1+i; + if ( bIndex < 0 || bIndex >= bases.length || rIndex < 0 || rIndex >= ref.length ) { + surrounded = false; + continue; + } + if ( bases[bIndex] != ref[rIndex] ) { surrounded = false; } } - if ( !surrounded ) { + if ( (!fmArgs.reportAllAlts && !fmArgs.tagBasesWithAdjacentRefDiff) && !surrounded ) { continue; } // add this feature FlowFeatureMapper.MappedFeature feature = FlowFeatureMapper.MappedFeature.makeSNV(read, readOfs, ref[refOfs], referenceContext.getStart() + refOfs, readOfs - refOfs); + if ( (fmArgs.reportAllAlts || fmArgs.tagBasesWithAdjacentRefDiff) && !surrounded ) + feature.adjacentRefDiff = true; feature.nonIdentMBasesOnRead = nonIdentMBases; feature.refEditDistance = refEditDistance; if ( !read.isReverseStrand() ) @@ -166,8 +192,8 @@ public void forEachOnRead(GATKRead read, ReferenceContext referenceContext, Cons features.add(feature); } } - readOfs += identAfter; - refOfs += identAfter; + readOfs += spanAfter; + refOfs += spanAfter; } else { @@ -243,8 +269,8 @@ public FilterStatus noFeatureButFilterAt(GATKRead read, ReferenceContext referen cigarElement.getOperator().consumesReferenceBases() ) { // break out if not enough clearing - if ( (start < referenceContext.getStart() + refOfs + identBefore) || - (start >= referenceContext.getStart() + refOfs + length - identAfter) ) + if ( (start < referenceContext.getStart() + refOfs + spanBefore) || + (start >= referenceContext.getStart() + refOfs + length - spanAfter) ) return FilterStatus.Filtered; int delta = start - (referenceContext.getStart() + refOfs); @@ -255,13 +281,25 @@ public FilterStatus noFeatureButFilterAt(GATKRead read, ReferenceContext referen // check that this is really a SNV (must be surrounded by identical ref) boolean surrounded = true; - for ( int i = 0 ; i < identBefore && surrounded ; i++ ) { - if ( bases[readOfs-1-i] != ref[refOfs-1-i] ) { + for ( int i = 0 ; i < surroundBefore && surrounded ; i++ ) { + final int bIndex = readOfs-1-i; + final int rIndex = refOfs-1-i; + if ( bIndex < 0 || bIndex >= bases.length || rIndex < 0 || rIndex >= ref.length ) { + surrounded = false; + continue; + } + if ( bases[bIndex] != ref[rIndex] ) { surrounded = false; } } - for ( int i = 0 ; i < identAfter && surrounded ; i++ ) { - if ( bases[readOfs+1+i] != ref[refOfs+1+i] ) { + for (int i = 0; i < surroundAfter && surrounded ; i++ ) { + final int bIndex = readOfs+1+i; + final int rIndex = refOfs+1+i; + if ( bIndex < 0 || bIndex >= bases.length || rIndex < 0 || rIndex >= ref.length ) { + surrounded = false; + continue; + } + if ( bases[bIndex] != ref[rIndex] ) { surrounded = false; } } diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/groundtruth/GroundTruthScorer.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/groundtruth/GroundTruthScorer.java new file mode 100644 index 00000000000..ff44ac5ca5d --- /dev/null +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/groundtruth/GroundTruthScorer.java @@ -0,0 +1,832 @@ +package org.broadinstitute.hellbender.tools.walkers.groundtruth; + +import com.opencsv.CSVReader; +import htsjdk.samtools.CigarOperator; +import htsjdk.samtools.SAMFileHeader; +import htsjdk.samtools.SAMReadGroupRecord; +import htsjdk.variant.variantcontext.VariantContext; +import org.apache.commons.lang3.StringUtils; +import org.apache.commons.math3.util.Precision; +import org.apache.logging.log4j.LogManager; +import org.apache.logging.log4j.Logger; +import org.broadinstitute.barclay.argparser.Argument; +import org.broadinstitute.barclay.argparser.ArgumentCollection; +import org.broadinstitute.barclay.argparser.CommandLineProgramProperties; +import org.broadinstitute.barclay.argparser.ExperimentalFeature; +import org.broadinstitute.barclay.help.DocumentedFeature; +import org.broadinstitute.hellbender.cmdline.programgroups.FlowBasedProgramGroup; +import org.broadinstitute.hellbender.engine.*; +import org.broadinstitute.hellbender.exceptions.GATKException; +import org.broadinstitute.hellbender.tools.walkers.haplotypecaller.FlowBasedAlignmentArgumentCollection; +import org.broadinstitute.hellbender.tools.walkers.featuremapping.FlowFeatureMapper; +import org.broadinstitute.hellbender.tools.walkers.haplotypecaller.AssemblyBasedCallerUtils; +import org.broadinstitute.hellbender.tools.walkers.haplotypecaller.FlowBasedAlignmentLikelihoodEngine; +import org.broadinstitute.hellbender.tools.walkers.haplotypecaller.LikelihoodEngineArgumentCollection; +import org.broadinstitute.hellbender.tools.walkers.haplotypecaller.ReadLikelihoodCalculationEngine; +import org.broadinstitute.hellbender.utils.BaseUtils; +import org.broadinstitute.hellbender.utils.SimpleInterval; +import org.broadinstitute.hellbender.utils.clipping.ReadClipper; +import org.broadinstitute.hellbender.utils.haplotype.FlowBasedHaplotype; +import org.broadinstitute.hellbender.utils.haplotype.Haplotype; +import org.broadinstitute.hellbender.utils.read.*; +import org.broadinstitute.hellbender.utils.report.GATKReport; +import org.broadinstitute.hellbender.utils.report.GATKReportTable; + +import java.io.*; +import java.text.DecimalFormat; +import java.util.*; +import java.util.zip.GZIPOutputStream; + +@CommandLineProgramProperties( + summary = "Ground Truth Scorer", + oneLineSummary = "Score reads against a reference/ground truth", + programGroup = FlowBasedProgramGroup.class +) +@DocumentedFeature +@ExperimentalFeature +public class GroundTruthScorer extends ReadWalker { + private static final Logger logger = LogManager.getLogger(GroundTruthScorer.class); + + public static final String OUTPUT_CSV_LONG_NAME = "output-csv"; + public static final String REPORT_FILE_LONG_NAME = "report-file"; + public static final String USE_SOFTCLIPPED_BASES_LONG_NAME = "use-softclipped-bases"; + public static final String GENOME_PRIOR_LONG_NAME = "genome-prior"; + public static final String FEATURES_FILE_LONG_NAME = "features-file"; + public static final String NORMALIZED_SCORE_THRESHOLD_LONG_NAME = "normalized-score-threshold"; + public static final String ADD_MEAN_CALL_LONG_NAME = "add-mean-call"; + public static final String GT_NO_OUTPUT_LONG_NAME = "gt-no-output"; + public static final String OMIT_ZEROS_FROM_REPORT = "omit-zeros-from-report"; + public static final String QUALITY_PERCENTILES = "quality-percentiles"; + public static final String EXCLUDE_ZERO_FLOWS = "exclude-zero-flows"; + + private static final int QUAL_VALUE_MAX = 60; + private static final int HMER_VALUE_MAX = 100; //TODO: This should become a parameter + private static final int BASE_VALUE_MAX = FlowBasedRead.DEFAULT_FLOW_ORDER.length() - 1; + + private static final double NORMALIZED_SCORE_THRESHOLD_DEFAULT = -0.1; + + /* + Private accumulator class for counting false/true observations (hence Boolean). + + Observations are counted at a top level and are also optionally classified into a set of bins (the + number of which is fixed upon construction). The bins themselves are also BooleanAccumulator objects, + resulting in a tree like multi-level accumulator. + + + GroundTruthScores builds a four level deep accumulation tree, which can support observations of a + boolean event with 3-deep context (bin1,bin2,bin3). + + Once accumulation is done, the instance is able to generate a suitable GATKReportTable for any given + bin depth (1, 2 or 3). + + */ + private static class BooleanAccumulator { + long falseCount; + long trueCount; + BooleanAccumulator[] bins; + + // add an observation to this accumulator + void add(final boolean b) { + if (b) { + trueCount++; + } else { + falseCount++; + } + } + + // add an observation to this accumulator and to one of the bins in the level under it (1 deep) + void add(final boolean b, final int bin) { + add(b); + if ( bins != null && bin >= 0 && bin < bins.length ) { + bins[bin].add(b); + } else { + logger.warn("bin out of range; " + bin + ", range: [0," + bins.length + "), clipped"); + bins[Math.max(0, Math.min(bin, bins.length - 1))].add(b); + } + } + + // add an observation to this accumulator and to two levels of bins under it (2 deep) + void add(final boolean b, final int bin, final int bin2) { + add(b); + if ( bins != null && bin >= 0 && bin < bins.length ) { + bins[bin].add(b, bin2); + } else { + logger.warn("bin out of range; " + bin + ", range: [0," + bins.length + "), clipped"); + bins[Math.max(0, Math.min(bin, bins.length - 1))].add(b, bin2); + } + } + + // add an observation to this accumulator and to three levels of bins under it (3 deep) + void add(final boolean b, final int bin, final int bin2, final int bin3) { + add(b); + if ( bins != null && bin >= 0 && bin < bins.length ) { + bins[bin].add(b, bin2, bin3); + } else { + logger.warn("bin out of range; " + bin + ", range: [0," + bins.length + "), clipped"); + bins[Math.max(0, Math.min(bin, bins.length - 1))].add(b, bin2, bin3); + } + } + + // get observation count of this accumulator + long getCount() { + return falseCount + trueCount; + } + + // get the false rate/ration for this accumulator + double getFalseRate() { + return (getCount() == 0) ? 0.0 : ((double)falseCount / getCount()); + } + + // create a set of accumulators with 3-deep bin nesting + static BooleanAccumulator[] newReport(final int size, final int binCount, final int binCount2, final int binCount3) { + BooleanAccumulator[] report = new BooleanAccumulator[size]; + for ( byte i = 0 ; i < report.length ; i++ ) { + report[i] = new BooleanAccumulator(); + if ( binCount != 0 ) { + report[i].bins = new BooleanAccumulator[binCount]; + for ( int j = 0 ; j < report[i].bins.length ; j++ ) { + report[i].bins[j] = new BooleanAccumulator(); + if ( binCount2 != 0 ) { + report[i].bins[j].bins = new BooleanAccumulator[binCount2]; + for ( int k = 0 ; k < report[i].bins[j].bins.length ; k++ ) { + report[i].bins[j].bins[k] = new BooleanAccumulator(); + if (binCount3 != 0) { + report[i].bins[j].bins[k].bins = new BooleanAccumulator[binCount3]; + for (int m = 0; m < report[i].bins[j].bins[k].bins.length; m++) { + report[i].bins[j].bins[k].bins[m] = new BooleanAccumulator(); + } + } + } + } + } + } + } + return report; + } + + // create a GATK report from a set of accumulators without nesting into their bins + static GATKReportTable newReportTable(final BooleanAccumulator[] report, final String name, final double probThreshold, final boolean omitZeros) { + final GATKReportTable table = new GATKReportTable(name + "Report", "error rate per " + name, 4); + table.addColumn(name, "%d"); + table.addColumn("count", "%d"); + table.addColumn("error", "%f"); + table.addColumn("phred", "%d"); + int rowIndex = 0; + for (int i = 0; i < report.length; i++) { + if ( omitZeros && i != 0 && report[i].getCount() == 0 ) + continue; + else { + final double rate = report[i].getFalseRate(); + final double phredRate = (rate == 0.0 && report[i].getCount() != 0 && probThreshold != 0.0) ? probThreshold : rate; + + table.set(rowIndex, 0, i); + table.set(rowIndex, 1, report[i].getCount()); + table.set(rowIndex, 2, rate); + table.set(rowIndex, 3, phredRate != 0 ? (int) Math.ceil(-10.0 * Math.log10(phredRate)) : 0); + rowIndex++; + } + } + return table; + } + + // create a GATK report from a set of accumulators while nesting into one level of their bins (1 deep) + static GATKReportTable newReportTable(final BooleanAccumulator[] report, final String name1, final String name2, final boolean omitZeros) { + final GATKReportTable table = new GATKReportTable(name1 + "_" + name2 + "Report", "error rate per " + name1 + " by " + name2, 4); + table.addColumn(name1, "%d"); + table.addColumn(name2, "%d"); + table.addColumn("count", "%d"); + table.addColumn("error", "%f"); + int rowIndex = 0; + for (int i = 0; i < report.length; i++) { + for ( int j = 0; j < report[i].bins.length ; j++ ) { + if ( omitZeros && (i != 0 || j != 0) && report[i].bins[j].getCount() == 0 ) + continue; + else { + table.set(rowIndex, 0, i); + table.set(rowIndex, 1, j); + table.set(rowIndex, 2, report[i].bins[j].getCount()); + table.set(rowIndex, 3, report[i].bins[j].getFalseRate()); + rowIndex++; + } + } + } + return table; + } + + // create a GATK report from a set of accumulators while nesting into two levels of their bins (2 deep) + static GATKReportTable newReportTable(final BooleanAccumulator[] report, final String name1, final String name2, final String name3, final String name4, final boolean omitZeros) { + final GATKReportTable table = new GATKReportTable(name1 + "_" + name2 + "_" + name3 + "_" + name4 + "_Report", "error rate per " + name1 + " by " + name2 + " and " + name3, 5); + table.addColumn(name1, "%d"); + table.addColumn(name2, "%d"); + table.addColumn(name3, "%s"); + table.addColumn(name4, "%s"); + table.addColumn("count", "%d"); + int rowIndex = 0; + for (int i = 0; i < report.length; i++) { + for ( int j = 0; j < report[i].bins.length ; j++ ) { + for ( int k = 0; k < report[i].bins[j].bins.length ; k++ ) { + for ( int m = 0; m < report[i].bins[j].bins[k].bins.length ; m++ ) { + if ( omitZeros && (i != 0 || j != 0 || k != 0 || m != 0) && report[i].bins[j].bins[k].bins[m].getCount() == 0 ) + continue; + else { + table.set(rowIndex, 0, i); + table.set(rowIndex, 1, j); + table.set(rowIndex, 2, binToDeviation(k)); + table.set(rowIndex, 3, String.format("%c", binToBase(m))); + table.set(rowIndex, 4, report[i].bins[j].bins[k].bins[m].getCount()); + rowIndex++; + } + } + } + } + } + return table; + } + } + + private static class PercentileReport extends SeriesStats { + + static GATKReportTable newReportTable(final Vector report, String qualityPercentiles) { + String[] qp = qualityPercentiles.split(","); + final GATKReportTable table = new GATKReportTable("PhredBinAccumulator", "PhredBinAccumulator", 8 + qp.length); + table.addColumn("flow", "%d"); + table.addColumn("count", "%d"); + table.addColumn("min", "%f"); + table.addColumn("max", "%f"); + table.addColumn("mean", "%f"); + table.addColumn("median", "%f"); + table.addColumn("std", "%f"); + for ( final String p : qp ) { + table.addColumn("p" + p, "%f"); + } + int rowIndex = 0; + for ( final PercentileReport r : report ) { + int col = 0; + table.set(rowIndex, col++, rowIndex); + table.set(rowIndex, col++, r.getCount()); + table.set(rowIndex, col++, r.getMin()); + table.set(rowIndex, col++, r.getMax()); + table.set(rowIndex, col++, r.getMean()); + table.set(rowIndex, col++, r.getMedian()); + table.set(rowIndex, col++, r.getStd()); + for ( String p : qp ) { + table.set(rowIndex, col++, r.getPercentile(Double.parseDouble(p))); + } + rowIndex++; + } + return table; + } + + void addProb(double p) { + super.add(-10 * Math.log10(p)); + } + } + + @Argument(fullName = OUTPUT_CSV_LONG_NAME, doc="main CSV output file. supported file extensions: .csv, .csv.gz.") + public GATKPath outputCsvPath = null; + + @Argument(fullName = REPORT_FILE_LONG_NAME, doc="report output file.", optional = true) + public GATKPath reportFilePath = null; + + @ArgumentCollection + public LikelihoodEngineArgumentCollection likelihoodArgs = new LikelihoodEngineArgumentCollection(); + + @ArgumentCollection + public FlowBasedAlignmentArgumentCollection fbargs = new FlowBasedAlignmentArgumentCollection(); + + @Argument(fullName = USE_SOFTCLIPPED_BASES_LONG_NAME, doc="", optional = true) + public boolean useSoftclippedBases; + + @Argument(fullName = GENOME_PRIOR_LONG_NAME, doc="CSV input file containing genome-prior (one line per base with hmer frequencies).", optional = true) + public GATKPath genomePriorPath; + + @Argument(fullName = FEATURES_FILE_LONG_NAME, doc="A VCF file containing features to be used as a use for filtering reads.", optional = true) + public FeatureDataSource features; + + @Argument(fullName = NORMALIZED_SCORE_THRESHOLD_LONG_NAME, doc="threshold for normalized score, below which reads are ignored", optional = true) + public double normalizedScoreThreshold = NORMALIZED_SCORE_THRESHOLD_DEFAULT; + + @Argument(fullName = ADD_MEAN_CALL_LONG_NAME, doc="Add ReadMeanCall and ReadProbs columns to output", optional = true) + public boolean addMeanCalll; + + @Argument(fullName = GT_NO_OUTPUT_LONG_NAME, doc = "do not generate output records", optional = true) + public boolean noOutput = false; + + @Argument(fullName = OMIT_ZEROS_FROM_REPORT, doc = "omit zero values from output report", optional = true) + public boolean omitZerosFromReport = false; + + @Argument(fullName = QUALITY_PERCENTILES, doc = "list of quality percentiles, defaults to 10,25,50,75,90", optional = true) + public String qualityPercentiles = "10,25,50,75,90"; + + @Argument(fullName = EXCLUDE_ZERO_FLOWS, doc = "should flows with a call of zero be included in the percentile report?", optional = true) + public boolean excludeZeroFlows = false; + + // locals + private FlowBasedAlignmentLikelihoodEngine likelihoodCalculationEngine; + private PrintWriter outputCsv; + private DecimalFormat doubleFormat = new DecimalFormat("0.0#####"); + private GenomePriorDB genomePriorDB; + private BooleanAccumulator[] qualReport; + private String[] csvFieldOrder; + private Vector percentileReports; + + // static/const + static final private String[] CSV_FIELD_ORDER_BASIC = { + "ReadName", "ReadKey", "ReadIsReversed", "ReadMQ", "ReadRQ", "GroundTruthKey", "ReadSequence", + "Score", "NormalizedScore", "ErrorProbability", + "ReadKeyLength", "GroundTruthKeyLength", "CycleSkipStatus", "Cigar", "LowestQBaseTP" + }; + static final private String[] CSV_FIELD_ORDER_MEAN_CALL = { + "ReadProbs", "ReadMeanCall" + }; + + @Override + public void onTraversalStart() { + super.onTraversalStart(); + + // establish csv fields + List order = new LinkedList<>(Arrays.asList(CSV_FIELD_ORDER_BASIC)); + if ( addMeanCalll ) { + order.addAll(Arrays.asList(CSV_FIELD_ORDER_MEAN_CALL)); + } + csvFieldOrder = order.toArray(new String[0]); + + // create likelihood engine + final ReadLikelihoodCalculationEngine engine = AssemblyBasedCallerUtils.createLikelihoodCalculationEngine(likelihoodArgs, false); + if ( engine instanceof FlowBasedAlignmentLikelihoodEngine ) { + likelihoodCalculationEngine = (FlowBasedAlignmentLikelihoodEngine)engine; + } else { + throw new GATKException("must use a flow based likelihood calculation engine"); + } + + // open genome prior if provided + if ( genomePriorPath != null ) { + try { + genomePriorDB = new GenomePriorDB(genomePriorPath); + } catch (IOException e) { + throw new GATKException("failed to open genome-prior file: " + genomePriorPath); + } + } + + // open output, write header + try { + if (outputCsvPath.toPath().toString().endsWith(".gz")) { + outputCsv = new PrintWriter(new GZIPOutputStream(outputCsvPath.getOutputStream())); + } else { + outputCsv = new PrintWriter(outputCsvPath.getOutputStream()); + } + } catch (IOException e) { + throw new GATKException("failed to open csv output: " + outputCsvPath, e); + } + emitCsvHeaders(); + + // initialize reports + if ( reportFilePath != null ) { + qualReport = BooleanAccumulator.newReport(QUAL_VALUE_MAX + 1, HMER_VALUE_MAX + 1, deviationToBin(HMER_VALUE_MAX + 1), BASE_VALUE_MAX + 1); + + // establish max hmer size of flow input + int maxClass = FlowBasedRead.MAX_CLASS; + final SAMFileHeader header = getHeaderForReads(); + if ( header != null ) { + for ( SAMReadGroupRecord rg : header.getReadGroups() ) { + if ( rg.getAttribute(FlowBasedRead.MAX_CLASS_READ_GROUP_TAG) != null ) { + maxClass = Math.max(maxClass, Integer.parseInt(rg.getAttribute(FlowBasedRead.MAX_CLASS_READ_GROUP_TAG))); + } + } + } + percentileReports = new Vector<>(); + } + } + + @Override + public void closeTool() { + + // close main output csv + if ( outputCsv != null ) { + outputCsv.close(); + } + + // write reports + if ( reportFilePath != null ) { + final GATKReport report = new GATKReport( + BooleanAccumulator.newReportTable(qualReport, "qual", fbargs.probabilityRatioThreshold, omitZerosFromReport), + BooleanAccumulator.newReportTable(qualReport, "qual", "hmer", omitZerosFromReport), + BooleanAccumulator.newReportTable(qualReport, "qual", "hmer", "deviation", "base", omitZerosFromReport), + PercentileReport.newReportTable(percentileReports, qualityPercentiles) + ); + try ( final PrintStream ps = new PrintStream(reportFilePath.getOutputStream()) ) { + report.print(ps); + } + } + + super.closeTool(); + } + + @Override + public void apply(final GATKRead read, final ReferenceContext referenceContext, final FeatureContext featureContext) { + + // working with unmapped reads is really not practical, as we need the reference to work out ground truth + if ( read.isUnmapped() ) + return; + if ( referenceContext.getWindow() == null ) + return; + + // handle read clipping + final GATKRead clippedRead; + if (isSoftClipped(read) ) { + if (useSoftclippedBases) { + referenceContext.setWindow(read.getStart() - read.getUnclippedStart(), read.getUnclippedEnd() - read.getEnd());; + clippedRead = ReadClipper.revertSoftClippedBases(read); + } else { + clippedRead = ReadClipper.hardClipSoftClippedBases(read); + } + } else { + clippedRead = read; + } + + // filter? + if ( (features != null) && !filter(clippedRead, referenceContext) ) { + return; + } + + // create flow read/haplotype + final FlowBasedReadUtils.ReadGroupInfo rgInfo = FlowBasedReadUtils.getReadGroupInfo(getHeaderForReads(), clippedRead); + final FlowBasedRead flowRead = new FlowBasedRead(clippedRead, rgInfo.flowOrder, rgInfo.maxClass, fbargs); + final Haplotype haplotype = new Haplotype(referenceContext.getBases(), true); + final FlowBasedHaplotype flowHaplotype = new FlowBasedHaplotype(haplotype, rgInfo.flowOrder); + + // is this really needed? + if ( !flowRead.isValid() ) { + return; + } + + // compute score + final int hapKeyLength = flowHaplotype.getKeyLength(); + final double score = FlowFeatureMapper.computeLikelihoodLocal(flowRead, flowHaplotype, hapKeyLength, false); + final double normalizedScore = score / flowRead.getKeyLength(); + if ( normalizedScore < normalizedScoreThreshold ) + return; + + // compute error probability + final double[] errorProb = computeErrorProb(flowRead, genomePriorDB); + + // cycle skip + final FlowBasedReadUtils.CycleSkipStatus cycleSkipStatus = FlowBasedReadUtils.getCycleSkipStatus(flowRead, referenceContext); + + // accumulate reports + if ( cycleSkipStatus != FlowBasedReadUtils.CycleSkipStatus.CS && qualReport != null ) { + addToQualReport(flowRead, referenceContext, errorProb); + } + + // emit + try { + emit(flowRead, flowHaplotype, score, normalizedScore, errorProb, read, cycleSkipStatus); + } catch (IOException e) { + throw new GATKException("failed to write output record", e); + } + } + + private boolean filter(final GATKRead read, final ReferenceContext referenceContext) { + + // loop on features contained in the read, check that they are in agreement with read data + Iterator iter = features.query(new SimpleInterval(read)); + byte[] ref = referenceContext.getBases(); + while ( iter.hasNext() ) { + final VariantContext vc = iter.next(); + for ( int refCoord = vc.getStart() ; refCoord <= vc.getEnd() ; refCoord++ ) { + + // get byte from read + Optional readByte = ReadUtils.getReadBaseAtReferenceCoordinate(read, refCoord); + if ( !readByte.isPresent() ) { + return false; + } + + // get byte from reference + byte refByte = ref[refCoord - referenceContext.getWindow().getStart()]; + + // compare + if ( refByte != readByte.get() ) { + return false; + } + } + } + + // if here, no interference detected + return true; + } + + /* + * compute error probability vector for a read + * + * The vector has one element for each flow key, representing the probability complementing the call-probability to 1 + * This is further complicated by the optional presence of a genome-prior database, which provides factoring for + * each hmer length (on a base basis) + */ + private double[] computeErrorProb(final FlowBasedRead flowRead, final GenomePriorDB genomePriorDB) { + + final int[] key = flowRead.getKey(); + final byte[] flowOrder = flowRead.getFlowOrderArray(); + + final double[] probCol = new double[flowRead.getMaxHmer() + 1]; + double[] result = new double[key.length]; + + for ( int i = 0 ; i < key.length ; i++ ) { + + // step 1 - extract column & sum + double sum = 0; + for ( int j = 0 ; j < probCol.length ; j++ ) { + sum += (probCol[j] = flowRead.getProb(i, j)); + } + + // step 2 - normalize column + if ( sum != 0.0 ) { + for (int j = 0; j < probCol.length; j++) { + probCol[j] /= sum; + } + } + + // step 3 - scale according to prior genome? + if ( genomePriorDB != null ) { + + long[] prior = genomePriorDB.getPriorForBase(flowOrder[i]); + sum = 0; + if ( prior != null ) { + for (int j = 0; j < probCol.length; j++) { + sum += (probCol[j] *= prior[j]); + } + } + + // assign normalized result + if ( sum != 0.0 ) { + result[i] = 1 - (probCol[Math.min(probCol.length - 1, Math.min(key[i], flowRead.getMaxHmer()))] / sum); + } else { + // revert to non-prior normalization + result[i] = 1 - probCol[Math.min(key[i], flowRead.getMaxHmer())]; + } + } else { + + // assign normalized result + result[i] = 1 - probCol[Math.min(key[i], flowRead.getMaxHmer())]; + } + + // accumulate error probabilities + if ( percentileReports != null ) { + if ( key[i] != 0 || !excludeZeroFlows ) { + while ( percentileReports.size() < (i + 1) ) { + percentileReports.add(new PercentileReport()); + } + percentileReports.get(i).addProb(result[i]); + } + } + } + + return result; + } + + /* + * compute lowest-quality-base-tp-value vector for a read + * + * The vector has one element for each flow key, representing the value of the tp for the hmer base + * which has the lowest quality value + * + * example: + * Bases: TTTTT + * Qs: ABCBA + * Tp: -1 1 0 1 -1 + * Output: -1 + */ + private byte[] computeLowestQBaseTP(final FlowBasedRead flowRead) { + + final int[] key = flowRead.getKey(); + byte[] result = new byte[key.length]; + final byte[] tp = flowRead.getAttributeAsByteArray("tp"); + final byte[] qual = flowRead.getBaseQualitiesNoCopy(); + + // loop om key + int seq_i = 0; + for ( int i = 0 ; i < key.length ; i++ ) { + + // extract hmer length, zero is easy + int hmer = key[i]; + if ( hmer == 0 ) { + result[i] = 0; + continue; + } + + // scan qualities for the lowest value, start with first + // as qualities and tp are symetric, we can scan up to the middle + // when finding the middle (offset) account for even/odd hmers + result[i] = tp[seq_i]; + byte lowestQ = qual[seq_i]; + int hmer_scan_length = (hmer + 1) / 2; + for ( int j = 1 ; j < hmer_scan_length ; j++ ) { + if ( qual[seq_i + j] < lowestQ ) { + result[i] = tp[seq_i + j]; + lowestQ = qual[seq_i + j]; + } + } + + // advance + seq_i += hmer; + } + + return result; + } + + private void emitCsvHeaders() { + + outputCsv.println(StringUtils.join(csvFieldOrder, ",")); + } + + private void emit(final FlowBasedRead flowRead, final FlowBasedHaplotype refHaplotype, double score, final double normalizedScore, final double[] errorProb, + GATKRead read, + FlowBasedReadUtils.CycleSkipStatus cycleSkipStatus) throws IOException { + + // build line columns + final Map cols = new LinkedHashMap<>(); + + // read info + cols.put("ReadName", flowRead.getName()); + cols.put("ReadIsReversed", flowRead.isReverseStrand() ? 1 : 0); + cols.put("ReadMQ", flowRead.getMappingQuality()); + cols.put("ReadRQ", flowRead.getAttributeAsFloat("rq")); + cols.put("CycleSkipStatus", cycleSkipStatus); + cols.put("Cigar", read.getCigar().toString()); + + + // keys, seq, etc + cols.put("ReadKey", "\"" + StringUtils.join(flowRead.getKey(), ',') + "\""); + cols.put("GroundTruthKey", "\"" + StringUtils.join(refHaplotype.getKey(), ',') + "\""); + cols.put("ReadSequence", flowRead.getBasesString()); + cols.put("ReadKeyLength", flowRead.getKeyLength()); + cols.put("GroundTruthKeyLength", refHaplotype.getKeyLength()); + + // scores + cols.put("Score", score); + cols.put("NormalizedScore", normalizedScore); + cols.put("ErrorProbability", "\"" + StringUtils.join( + Arrays.stream(errorProb).mapToObj(v -> doubleFormat.format(v)).toArray(), + ',') + "\""); + + // lowest q base tp + final byte[] lowestQBaseTP = computeLowestQBaseTP(flowRead); + cols.put("LowestQBaseTP", "\"" + StringUtils.join(lowestQBaseTP, ',') + "\""); + + // add read probabilities + if ( addMeanCalll ) { + double[][] readProbsAndMeanCall = collectReadProbs(flowRead); + cols.put("ReadProbs", "\"" + StringUtils.join( + Arrays.stream(readProbsAndMeanCall[0]).mapToObj(v -> doubleFormat.format(v)).toArray(), + ',') + "\""); + cols.put("ReadMeanCall", "\"" + StringUtils.join( + Arrays.stream(readProbsAndMeanCall[1]).mapToObj(v -> doubleFormat.format(v)).toArray(), + ',') + "\""); + } + + // construct line + StringBuilder sb = new StringBuilder(); + int colIndex = 0; + for ( String field : csvFieldOrder ) { + if ( colIndex++ > 0 ) { + sb.append(','); + } + if ( !cols.containsKey(field) ) { + throw new GATKException("column missing from csv line: " + field); + } + sb.append(cols.get(field)); + cols.remove(field); + } + if ( cols.size() > 0 ) { + throw new GATKException("invalid columns on csv line: " + cols.keySet()); + } + + // output line + if ( !noOutput ) { + outputCsv.println(sb); + } + } + + private double[][] collectReadProbs(final FlowBasedRead read) { + + final int keyLength = read.getKeyLength(); + final int maxHmer = read.getMaxHmer(); + final double[] probs = new double[keyLength * (maxHmer + 1)]; + final double[] meanCall = new double[keyLength]; + + // retrieve probs + int pos = 0; + for ( int flow = 0 ; flow < keyLength ; flow++ ) { + double mc = 0; + int mc_sum = 0; + for ( int hmer = 0 ; hmer <= maxHmer ; hmer++ ) { + final double p = read.getProb(flow, hmer); + probs[pos++] = p; + mc += (p * hmer); + mc_sum += hmer; + } + meanCall[flow] = mc / mc_sum; + } + + return new double[][] {probs, meanCall}; + } + + static private class GenomePriorDB { + + final private Map db = new LinkedHashMap<>(); + + GenomePriorDB(GATKPath path) throws IOException { + + final CSVReader csvReader = new CSVReader(new InputStreamReader(path.getInputStream())); + String[] line; + while ( (line = csvReader.readNext()) != null ) { + long[] prior = new long[HMER_VALUE_MAX + 1]; + Byte base = line[0].getBytes()[0]; + for ( int i = 0 ; i < prior.length ; i++ ) { + if ( i == 0 ){ + prior[i] = Long.parseLong(line[i+1]); + } else { + prior[i] = Long.parseLong(line[i]); + } + } + db.put(base, prior); + } + } + + long[] getPriorForBase(byte base) { + return db.get(base); + } + } + + private void addToQualReport(FlowBasedRead flowRead, ReferenceContext referenceContext, final double[] errorProb) { + + // convert reference to key space + final Haplotype haplotype = new Haplotype(referenceContext.getBases(), true); + final FlowBasedHaplotype flowHaplotype = new FlowBasedHaplotype(haplotype, flowRead.getFlowOrder()); + + // access keys & flow order + final int[] readKey = flowRead.getKey(); + final int[] hapKey = flowHaplotype.getKey(); + final byte[] flowOrder = flowRead.getFlowOrder().getBytes(); + + // loop on key positions + if ( readKey.length != hapKey.length ) { + return; + } + for ( int flow = 0 ; flow < readKey.length ; flow++ ) { + + // determine quality + final double prob = Precision.round(errorProb[flow], (QUAL_VALUE_MAX / 10) + 1); + final int qual = (int)Math.ceil(-10 * Math.log10(prob)); + + // determine if matches reference + final int deviation = readKey[flow] - hapKey[flow]; + final boolean same = (deviation == 0); + + // accumulate + if ( qual < qualReport.length ) { + int baseBin = baseToBin(flowOrder[flow % flowOrder.length], flowRead.isReverseStrand()); + qualReport[qual].add(same, readKey[flow], deviationToBin(deviation), baseBin); + } + } + } + + static private int baseToBin(byte base, boolean isReverseStrand) { + final byte trueBase = !isReverseStrand ? base : BaseUtils.simpleComplement(base); + return FlowBasedRead.DEFAULT_FLOW_ORDER.indexOf(trueBase); + } + + static private byte binToBase(int bin) { + return (byte)FlowBasedRead.DEFAULT_FLOW_ORDER.charAt(bin); + } + + // 0,-1,1,-2,2... -> 0,1,2,3,4... + static private int deviationToBin(final int deviation) { + if ( deviation >= 0 ) { + return deviation * 2; + } else { + return (-deviation * 2) - 1; + } + } + + // 0,1,2,3,4... -> 0,-1,1,-2,2... + static private String binToDeviation(final int bin) { + if ( bin == 0 ) { + return "0"; + } else if ( (bin % 2) == 0 ) { + return String.format("+%d", bin / 2); + } else { + return String.format("%d", -((bin+1) / 2)); + } + } + + static private boolean isSoftClipped( final GATKRead read ) { + if ( read.isUnmapped() ) + return false; + if ( read.getCigar().getFirstCigarElement() == null ) + return false; + final CigarOperator firstOperator = read.getCigar().getFirstCigarElement().getOperator(); + final CigarOperator lastOperator = read.getCigar().getLastCigarElement().getOperator(); + return (firstOperator == CigarOperator.SOFT_CLIP && lastOperator != CigarOperator.SOFT_CLIP) || + (firstOperator != CigarOperator.SOFT_CLIP && lastOperator == CigarOperator.SOFT_CLIP); + } +} diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/groundtruth/SeriesStats.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/groundtruth/SeriesStats.java new file mode 100644 index 00000000000..151e0ae4867 --- /dev/null +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/groundtruth/SeriesStats.java @@ -0,0 +1,112 @@ +package org.broadinstitute.hellbender.tools.walkers.groundtruth; + +import org.apache.commons.collections.map.LazySortedMap; + +import java.util.Map; +import java.util.SortedMap; +import java.util.TreeMap; +import java.util.concurrent.atomic.AtomicInteger; + +public class SeriesStats { + + // local state + private double last = Double.NaN; + private int count = 0; + private double sum = 0; + private double min = Double.NaN; + private double max = Double.NaN; + private SortedMap bins = new TreeMap<>(); + + void add(double v) { + + // save in simple values + last = v; + sum += v; + if ( count > 0 ) { + min = Math.min(min, v); + max = Math.max(max, v); + } else { + min = max = v; + } + count++; + + // save in bins + if ( bins.containsKey(v) ) { + bins.get(v).incrementAndGet(); + } else { + bins.put(v, new AtomicInteger(1)); + } + } + + public double getLast() { + return last; + } + + public int getCount() { + return count; + } + + public double getMin() { + return (count != 0) ? min : Double.NaN; + } + + public double getMax() { + return (count != 0) ? max : Double.NaN; + } + + public int getUniq() { + return bins.size(); + } + + public double getMean() { + return (count != 0) ? (sum / count) : Double.NaN; + } + + public double getMedian() { + return getPercentile(50); + } + + public double getPercentile(double precentile) { + if ( count == 0 ) { + return Double.NaN; + } else if ( count == 1 ) { + return last; + } else { + + int percentileIndex = (int)(count * precentile / 100); + int index = 0; + for (Map.Entry entry : bins.entrySet() ) { + int binSize = entry.getValue().get(); + if ( percentileIndex >= index && (percentileIndex < (index + binSize)) ) { + return entry.getKey(); + } + index += binSize; + } + + // if here, we need the highest entry + return bins.lastKey(); + } + } + + public double getStd() { + + if (count == 0) { + return Double.NaN; + } + + // calculate mean + double mean = getMean(); + + // calculate sum of sqr(deviations) + double vsum = 0; + for (Map.Entry entry : bins.entrySet()) { + int binSize = entry.getValue().get(); + vsum += (Math.pow(entry.getKey() - mean, 2) * binSize); + } + + // calculate variance and std + double variance = vsum / count; + return Math.sqrt(variance); + } + +} diff --git a/src/main/java/org/broadinstitute/hellbender/utils/read/FlowBasedReadUtils.java b/src/main/java/org/broadinstitute/hellbender/utils/read/FlowBasedReadUtils.java index ff009611521..ad30b0aa0c7 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/read/FlowBasedReadUtils.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/read/FlowBasedReadUtils.java @@ -1,17 +1,18 @@ package org.broadinstitute.hellbender.utils.read; import gov.nih.nlm.ncbi.ngs.NGS; -import htsjdk.samtools.SAMFileHeader; -import htsjdk.samtools.SAMReadGroupRecord; -import htsjdk.samtools.SAMRecord; +import htsjdk.samtools.*; import htsjdk.samtools.util.SequenceUtil; +import org.apache.commons.lang.ArrayUtils; import org.broadinstitute.hellbender.cmdline.argumentcollections.MarkDuplicatesSparkArgumentCollection; +import org.broadinstitute.hellbender.engine.ReferenceContext; import org.broadinstitute.hellbender.exceptions.GATKException; import org.broadinstitute.hellbender.tools.FlowBasedArgumentCollection; import org.broadinstitute.hellbender.utils.NGSPlatform; import org.broadinstitute.hellbender.utils.SequencerFlowClass; import org.broadinstitute.hellbender.utils.Utils; +import java.util.Arrays; import java.util.LinkedHashMap; import java.util.Map; @@ -33,6 +34,23 @@ public class FlowBasedReadUtils { private static final Map readGroupInfo = new LinkedHashMap<>(); + public enum CycleSkipStatus { + NS(0), // no skip + PCS(1), // possible cycle skip + CS(2); // cycle skip + + private int priority; + + CycleSkipStatus(final int priority) { + this.priority = priority; + } + + int getPriority() { + return this.priority; + } + + } + static public class ReadGroupInfo { final public String flowOrder; final public int maxClass; @@ -412,4 +430,54 @@ static public int[] getFlowMatrixModsInstructions(final String flowMatrixMods, f return null; } } + + public static CycleSkipStatus getCycleSkipStatus(FlowBasedRead read, ReferenceContext referenceContext) { + + CycleSkipStatus status = CycleSkipStatus.NS; + + // walk cigar elements of read + int readOfs = 0; + int refOfs = 0; + byte[] bases = read.getBasesNoCopy(); + for (CigarElement cigarElement : read.getCigarElements() ) { + if ( cigarElement.getOperator() == CigarOperator.M ) { + + // extract bases from element and reference, continue only if different + byte[] elemBases = ArrayUtils.subarray(bases, readOfs, readOfs + cigarElement.getLength()); + byte[] refBases = ArrayUtils.subarray(referenceContext.getBases(), refOfs, refOfs + cigarElement.getLength()); + if ( !Arrays.equals(elemBases, refBases) ) { + + // create keys + int[] altKey = FlowBasedKeyCodec.baseArrayToKey(elemBases, read.getFlowOrder()); + int[] refKey = FlowBasedKeyCodec.baseArrayToKey(refBases, read.getFlowOrder()); + + // assign initial css + CycleSkipStatus cssValue = (refKey.length != altKey.length) ? CycleSkipStatus.CS : CycleSkipStatus.NS; + + // if same length (NS) then see if it is possible-cycle-skip + if ( cssValue == CycleSkipStatus.NS ) { + for ( int n = 0 ; n < refKey.length ; n++ ) { + if ( (refKey[n] == 0) ^ (altKey[n] == 0) ) { + cssValue = CycleSkipStatus.PCS; + break; + } + } + } + + // integrate into status + if ( cssValue.getPriority() > status.getPriority() ) { + status = cssValue; + } + } + + } + readOfs += (cigarElement.getOperator().consumesReadBases() ? cigarElement.getLength() : 0); + refOfs += (cigarElement.getOperator().consumesReferenceBases() ? cigarElement.getLength() : 0); + if ( status == CycleSkipStatus.CS ) + break; + } + + return status; + } + } diff --git a/src/test/java/org/broadinstitute/hellbender/tools/walkers/featuremapping/FlowFeatureMapperIntegrationTest.java b/src/test/java/org/broadinstitute/hellbender/tools/walkers/featuremapping/FlowFeatureMapperIntegrationTest.java index 9958102b311..19d8cb8fc3b 100644 --- a/src/test/java/org/broadinstitute/hellbender/tools/walkers/featuremapping/FlowFeatureMapperIntegrationTest.java +++ b/src/test/java/org/broadinstitute/hellbender/tools/walkers/featuremapping/FlowFeatureMapperIntegrationTest.java @@ -31,7 +31,9 @@ public void testBasic() throws IOException { "-R", largeFileTestDir + "/Homo_sapiens_assembly38.fasta.gz", "-O", outputFile.getAbsolutePath(), "-I", testDir + "/snv_feature_mapper_input.bam", - "--copy-attr", "tr", + "--copy-attr", "RG", + "--copy-attr", "AS,Integer,AS attribute, as copied", + "--copy-attr", "rq,Float", "--limit-score", "100", "--min-score", "0", "--snv-identical-bases", "10", @@ -116,4 +118,106 @@ public void testSurroundingAllQuality() throws IOException { } } + @Test + public void testQCFailed() throws IOException { + + final File outputDir = createTempDir("testFlowFeatureMapperTest"); + final File expectedFile = new File(testDir + "/snv_feature_mapper_qc_failed_output.vcf"); + final File outputFile = UPDATE_EXACT_MATCH_EXPECTED_OUTPUTS ? expectedFile : new File(outputDir + "/snv_feature_mapper_qc_failed_output.vcf"); + + final String[] args = new String[] { + "-R", largeFileTestDir + "/Homo_sapiens_assembly38.fasta.gz", + "-O", outputFile.getAbsolutePath(), + "-I", testDir + "/snv_feature_mapper_input.bam", + "--copy-attr", "tr", + "--limit-score", "100", + "--min-score", "0", + "--snv-identical-bases", "10", + "--debug-negatives", "false", + "--debug-read-name", "150451-BC94-0645901755", + "--include-qc-failed-reads", "true" + }; + + // run the tool + runCommandLine(args); // no assert, just make sure we don't throw + + // make sure we've generated the otuput file + Assert.assertTrue(outputFile.exists()); + + // walk the output and expected files, compare non-comment lines + if ( !UPDATE_EXACT_MATCH_EXPECTED_OUTPUTS ) { + IntegrationTestSpec.assertEqualTextFiles(outputFile, expectedFile, "#"); + } + } + + @Test + public void testReportAllAlts() throws IOException { + + final File outputDir = createTempDir("testFlowFeatureMapperTest"); + final File expectedFile = new File(testDir + "/snv_feature_mapper_report_all_alts_output.vcf"); + final File outputFile = UPDATE_EXACT_MATCH_EXPECTED_OUTPUTS ? expectedFile : new File(outputDir + "/snv_feature_mapper_report_all_alts_output.vcf"); + + final String[] args = new String[] { + "-R", largeFileTestDir + "/Homo_sapiens_assembly38.fasta.gz", + "-O", outputFile.getAbsolutePath(), + "-I", testDir + "/snv_feature_mapper_input.bam", + "--copy-attr", "RG", + "--copy-attr", "AS,Integer,AS attribute, as copied", + "--copy-attr", "rq,Float", + "--limit-score", "100", + "--min-score", "0", + "--snv-identical-bases", "10", + "--debug-negatives", "false", + "--debug-read-name", "150451-BC94-0645901755", + "--report-all-alts", + "-L", "chr20:1099787-1101000" + }; + + // run the tool + runCommandLine(args); // no assert, just make sure we don't throw + + // make sure we've generated the otuput file + Assert.assertTrue(outputFile.exists()); + + // walk the output and expected files, compare non-comment lines + if ( !UPDATE_EXACT_MATCH_EXPECTED_OUTPUTS ) { + IntegrationTestSpec.assertEqualTextFiles(outputFile, expectedFile, "#"); + } + } + + @Test + public void testTagBasesWithAdjacentRefDiff() throws IOException { + + final File outputDir = createTempDir("testFlowFeatureMapperTest"); + final File expectedFile = new File(testDir + "/snv_feature_mapper_tag_adjs_output.vcf"); + final File outputFile = UPDATE_EXACT_MATCH_EXPECTED_OUTPUTS ? expectedFile : new File(outputDir + "/snv_feature_mapper_tag_adjs_output.vcf"); + + final String[] args = new String[] { + "-R", largeFileTestDir + "/Homo_sapiens_assembly38.fasta.gz", + "-O", outputFile.getAbsolutePath(), + "-I", testDir + "/snv_feature_mapper_input.bam", + "--copy-attr", "RG", + "--copy-attr", "AS,Integer,AS attribute, as copied", + "--copy-attr", "rq,Float", + "--limit-score", "100", + "--min-score", "0", + "--snv-identical-bases", "10", + "--debug-negatives", "false", + "--debug-read-name", "150451-BC94-0645901755", + "--tag-bases-with-adjacent-ref-diff", + "-L", "chr20:1099787-1101000" + }; + + // run the tool + runCommandLine(args); // no assert, just make sure we don't throw + + // make sure we've generated the otuput file + Assert.assertTrue(outputFile.exists()); + + // walk the output and expected files, compare non-comment lines + if ( !UPDATE_EXACT_MATCH_EXPECTED_OUTPUTS ) { + IntegrationTestSpec.assertEqualTextFiles(outputFile, expectedFile, "#"); + } + } + } diff --git a/src/test/java/org/broadinstitute/hellbender/tools/walkers/groundtruth/GroundTruthScorerIntegrationTest.java b/src/test/java/org/broadinstitute/hellbender/tools/walkers/groundtruth/GroundTruthScorerIntegrationTest.java new file mode 100644 index 00000000000..9ee6ae004f6 --- /dev/null +++ b/src/test/java/org/broadinstitute/hellbender/tools/walkers/groundtruth/GroundTruthScorerIntegrationTest.java @@ -0,0 +1,183 @@ +package org.broadinstitute.hellbender.tools.walkers.groundtruth; + +import org.apache.commons.lang3.ArrayUtils; +import org.broadinstitute.hellbender.CommandLineProgramTest; +import org.broadinstitute.hellbender.testutils.IntegrationTestSpec; +import org.broadinstitute.hellbender.tools.walkers.variantrecalling.FlowTestConstants; +import org.testng.Assert; +import org.testng.annotations.Test; + +import java.io.File; +import java.io.IOException; + +public class GroundTruthScorerIntegrationTest extends CommandLineProgramTest { + + public static final boolean UPDATE_EXACT_MATCH_EXPECTED_OUTPUTS = false; + + public static final String OUTPUT_FILENAME = "ground_truth_scorer_output.csv"; + public static final String OUTPUT_FILENAME_MEANCALL = "ground_truth_scorer_output_meancall.csv"; + public static final String OUTPUT_FILENAME_UNCLIPPED = "ground_truth_scorer_output_unclipped.csv"; + public static final String OUTPUT_FILENAME_GENOME_PRIOR = "ground_truth_scorer_output_genome_prior.csv"; + public static final String OUTPUT_FILENAME_FILTER = "ground_truth_scorer_output_filter.csv"; + public static final String OUTPUT_FILENAME_REPORT = "ground_truth_scorer_output_report.txt"; + public static final String GT_SCORER_INPUT_BAM = "gt_scorer_input.bam"; + public static final String REF_38_FASTA = "Homo_sapiens_assembly38.fasta.gz"; + public static final String CHR9_SMALL_INTERVAL = "chr9:71000-74000"; + public static final String CHR9_ALL_INTERVAL = "chr9"; + + private static String testDir = publicTestDir + FlowTestConstants.GROUND_TRUTH_DATA_DIR; + + @Test + public void assertThatExpectedOutputUpdateToggleIsDisabled() { + Assert.assertFalse(UPDATE_EXACT_MATCH_EXPECTED_OUTPUTS, "The toggle to update expected outputs should not be left enabled"); + } + + @Test + public void testBasic() throws IOException { + + final File outputDir = createTempDir("testGroundTruthTest"); + final File expectedFile = new File(testDir + "/" + OUTPUT_FILENAME); + final File outputFile = UPDATE_EXACT_MATCH_EXPECTED_OUTPUTS ? expectedFile : new File(outputDir + "/" + OUTPUT_FILENAME); + + final String[] args = buildCommonArgs(outputFile, GT_SCORER_INPUT_BAM, true); + + runCommandLine(args); // no assert, just make sure we don't throw + + // make sure we've generated the output file + Assert.assertTrue(outputFile.exists()); + + // walk the output and expected files, compare non-comment lines + if ( !UPDATE_EXACT_MATCH_EXPECTED_OUTPUTS ) { + IntegrationTestSpec.assertEqualTextFiles(outputFile, expectedFile); + } + } + + @Test + public void testMeanCall() throws IOException { + + final File outputDir = createTempDir("testGroundTruthTest"); + final File expectedFile = new File(testDir + "/" + OUTPUT_FILENAME_MEANCALL); + final File outputFile = UPDATE_EXACT_MATCH_EXPECTED_OUTPUTS ? expectedFile : new File(outputDir + "/" + OUTPUT_FILENAME_MEANCALL); + + final String[] args = ArrayUtils.addAll(buildCommonArgs(outputFile, GT_SCORER_INPUT_BAM, true), + "--add-mean-call" + ); + runCommandLine(args); // no assert, just make sure we don't throw + + // make sure we've generated the output file + Assert.assertTrue(outputFile.exists()); + + // walk the output and expected files, compare non-comment lines + if ( !UPDATE_EXACT_MATCH_EXPECTED_OUTPUTS ) { + IntegrationTestSpec.assertEqualTextFiles(outputFile, expectedFile); + } + } + + @Test + public void testUseSoftclippedBases() throws IOException { + + final File outputDir = createTempDir("testGroundTruthTest"); + final File expectedFile = new File(testDir + "/" + OUTPUT_FILENAME_UNCLIPPED); + final File outputFile = UPDATE_EXACT_MATCH_EXPECTED_OUTPUTS ? expectedFile : new File(outputDir + "/" + OUTPUT_FILENAME_UNCLIPPED); + + final String[] args = ArrayUtils.addAll(buildCommonArgs(outputFile, GT_SCORER_INPUT_BAM, true), + "--use-softclipped-bases", "true", + "--features-file", testDir + "/" + "dbsnp.chr9.vcf.gz" + ); + + runCommandLine(args); // no assert, just make sure we don't throw + + // make sure we've generated the otuput file + Assert.assertTrue(outputFile.exists()); + + // walk the output and expected files, compare non-comment lines + if ( !UPDATE_EXACT_MATCH_EXPECTED_OUTPUTS ) { + IntegrationTestSpec.assertEqualTextFiles(outputFile, expectedFile); + } + } + + @Test + public void testGenomePrior() throws IOException { + + final File outputDir = createTempDir("testGroundTruthTest"); + final File expectedFile = new File(testDir + "/" + OUTPUT_FILENAME_GENOME_PRIOR); + final File outputFile = UPDATE_EXACT_MATCH_EXPECTED_OUTPUTS ? expectedFile : new File(outputDir + "/" + OUTPUT_FILENAME_GENOME_PRIOR); + + final String[] args = ArrayUtils.addAll(buildCommonArgs(outputFile, GT_SCORER_INPUT_BAM, true), + new String[] {"--genome-prior", testDir + "/" + "genome_prior.csv"}); + + runCommandLine(args); // no assert, just make sure we don't throw + + // make sure we've generated the otuput file + Assert.assertTrue(outputFile.exists()); + + // walk the output and expected files, compare non-comment lines + if ( !UPDATE_EXACT_MATCH_EXPECTED_OUTPUTS ) { + IntegrationTestSpec.assertEqualTextFiles(outputFile, expectedFile); + } + } + + @Test + public void testFilter() throws IOException { + + final File outputDir = createTempDir("testGroundTruthTest"); + final File expectedFile = new File(testDir + "/" + OUTPUT_FILENAME_FILTER); + final File outputFile = UPDATE_EXACT_MATCH_EXPECTED_OUTPUTS ? expectedFile : new File(outputDir + "/" + OUTPUT_FILENAME_FILTER); + + final String[] args = ArrayUtils.addAll(buildCommonArgs(outputFile, GT_SCORER_INPUT_BAM, true), + new String[] { + "--features-file", testDir + "/" + "dbsnp.chr9.vcf.gz" + }); + + runCommandLine(args); // no assert, just make sure we don't throw + + // make sure we've generated the otuput file + Assert.assertTrue(outputFile.exists()); + + // walk the output and expected files, compare non-comment lines + if ( !UPDATE_EXACT_MATCH_EXPECTED_OUTPUTS ) { + IntegrationTestSpec.assertEqualTextFiles(outputFile, expectedFile); + } + } + + @Test + public void testReports() throws IOException { + + final File outputDir = createTempDir("testGroundTruthTest"); + final File expectedFile = new File(testDir + "/" + OUTPUT_FILENAME); + final File reportExpectedFile = new File(testDir + "/" + OUTPUT_FILENAME_REPORT); + + final File outputFile = UPDATE_EXACT_MATCH_EXPECTED_OUTPUTS ? expectedFile : new File(outputDir + "/" + OUTPUT_FILENAME); + final File reportFile = UPDATE_EXACT_MATCH_EXPECTED_OUTPUTS ? reportExpectedFile : new File(outputDir + "/" + OUTPUT_FILENAME_REPORT); + + final String[] args = ArrayUtils.addAll(buildCommonArgs(outputFile, GT_SCORER_INPUT_BAM, true), + new String[] { + "--report-file", reportFile.getAbsolutePath(), + "--omit-zeros-from-report", + "--quality-percentiles", "0,20,50,90,99,100" + }); + + runCommandLine(args); // no assert, just make sure we don't throw + + // make sure we've generated the otuput file + Assert.assertTrue(outputFile.exists()); + + // walk the output and expected files, compare non-comment lines + if ( !UPDATE_EXACT_MATCH_EXPECTED_OUTPUTS ) { + IntegrationTestSpec.assertEqualTextFiles(outputFile, expectedFile); + IntegrationTestSpec.assertEqualTextFiles(reportFile, reportExpectedFile); + } + } + + private String[] buildCommonArgs(final File outputFile, final String inputFile, boolean smallInterval) { + + return new String[] { + "-R", largeFileTestDir + "/" + REF_38_FASTA, + "-I", testDir + "/" + inputFile, + "--output-csv", outputFile.getAbsolutePath(), + "--intervals", smallInterval ? CHR9_SMALL_INTERVAL : CHR9_ALL_INTERVAL, + "--likelihood-calculation-engine", "FlowBased" + }; + + } +} diff --git a/src/test/resources/large/featureMapping/snv_feature_mapper_output.vcf b/src/test/resources/large/featureMapping/snv_feature_mapper_output.vcf index 49ca7d9f7b8..7cc4f1950cd 100644 --- a/src/test/resources/large/featureMapping/snv_feature_mapper_output.vcf +++ b/src/test/resources/large/featureMapping/snv_feature_mapper_output.vcf @@ -1,3 +1,3 @@ version https://git-lfs.github.com/spec/v1 -oid sha256:35bc2fec6e49a2d6cdfc6def9f2c2e1b02eeea7e186b659f897bdb2b49f5c486 -size 5051888 +oid sha256:b5f7a63955d57c04eac81f19140ea3483f93943e0a4fdb0990e636f3c08fbda1 +size 5722270 diff --git a/src/test/resources/large/featureMapping/snv_feature_mapper_output.vcf.idx b/src/test/resources/large/featureMapping/snv_feature_mapper_output.vcf.idx index cd2d3c59194..d88a936098d 100644 --- a/src/test/resources/large/featureMapping/snv_feature_mapper_output.vcf.idx +++ b/src/test/resources/large/featureMapping/snv_feature_mapper_output.vcf.idx @@ -1,3 +1,3 @@ version https://git-lfs.github.com/spec/v1 -oid sha256:d22c3d2ada379e4460a7d2da1de1a9903fc7fecbacfa52101993282edb615518 +oid sha256:35aac2c14df674d928a33d0faa938baecb3f67aa60d9a49f4f6f0f290683dc4c size 120113 diff --git a/src/test/resources/large/featureMapping/snv_feature_mapper_qc_failed_output.vcf b/src/test/resources/large/featureMapping/snv_feature_mapper_qc_failed_output.vcf new file mode 100644 index 00000000000..0d5f50fceed --- /dev/null +++ b/src/test/resources/large/featureMapping/snv_feature_mapper_qc_failed_output.vcf @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid sha256:405fb1bf62168e22c504e0e4ae0d9d6b9ab4f7ac32ff18dcd77f071618d964da +size 5051930 diff --git a/src/test/resources/large/featureMapping/snv_feature_mapper_qc_failed_output.vcf.idx b/src/test/resources/large/featureMapping/snv_feature_mapper_qc_failed_output.vcf.idx new file mode 100644 index 00000000000..d31b3036198 --- /dev/null +++ b/src/test/resources/large/featureMapping/snv_feature_mapper_qc_failed_output.vcf.idx @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid sha256:7aba6151d662570d8e4a25cbb4717c65009c2d217375a287667b1f47c2db9925 +size 120123 diff --git a/src/test/resources/large/featureMapping/snv_feature_mapper_report_all_alts_output.vcf b/src/test/resources/large/featureMapping/snv_feature_mapper_report_all_alts_output.vcf new file mode 100644 index 00000000000..c1f47301f09 --- /dev/null +++ b/src/test/resources/large/featureMapping/snv_feature_mapper_report_all_alts_output.vcf @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid sha256:1196abbe9d96b3d48dfae5a37991aaacaf2474a4bcae5c36cfae58378f8c1429 +size 21938650 diff --git a/src/test/resources/large/featureMapping/snv_feature_mapper_report_all_alts_output.vcf.idx b/src/test/resources/large/featureMapping/snv_feature_mapper_report_all_alts_output.vcf.idx new file mode 100644 index 00000000000..93e3ec2e7f9 --- /dev/null +++ b/src/test/resources/large/featureMapping/snv_feature_mapper_report_all_alts_output.vcf.idx @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid sha256:93e8a05eece74ee9760982366b0234cc2d4ee4ac25eb7e26f89b0a106958e235 +size 134797 diff --git a/src/test/resources/large/featureMapping/snv_feature_mapper_tag_adjs_output.vcf b/src/test/resources/large/featureMapping/snv_feature_mapper_tag_adjs_output.vcf new file mode 100644 index 00000000000..fba9eee5e7a --- /dev/null +++ b/src/test/resources/large/featureMapping/snv_feature_mapper_tag_adjs_output.vcf @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid sha256:61ce347a59b8a814c5af0bc08f242590feffbd7fc010cbc948cba94f35d6437d +size 250644 diff --git a/src/test/resources/large/featureMapping/snv_feature_mapper_tag_adjs_output.vcf.idx b/src/test/resources/large/featureMapping/snv_feature_mapper_tag_adjs_output.vcf.idx new file mode 100644 index 00000000000..2b60e131497 --- /dev/null +++ b/src/test/resources/large/featureMapping/snv_feature_mapper_tag_adjs_output.vcf.idx @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid sha256:c9876e614b5e5d9e3ffb1d85207149210e931a241821c832b3f3efc095b59710 +size 118520 diff --git a/src/test/resources/large/groundTruth/dbsnp.chr9.vcf.gz b/src/test/resources/large/groundTruth/dbsnp.chr9.vcf.gz new file mode 100644 index 00000000000..ca6ca9c472f --- /dev/null +++ b/src/test/resources/large/groundTruth/dbsnp.chr9.vcf.gz @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid sha256:74ad6bacb7d0d29a8616e90395dc7e5317e52c7f0eeb3fe8ede4637dced69093 +size 98173517 diff --git a/src/test/resources/large/groundTruth/dbsnp.chr9.vcf.gz.tbi b/src/test/resources/large/groundTruth/dbsnp.chr9.vcf.gz.tbi new file mode 100644 index 00000000000..8b0fb2b5cde --- /dev/null +++ b/src/test/resources/large/groundTruth/dbsnp.chr9.vcf.gz.tbi @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid sha256:13fd20968b710e8e364430d5d89278d1a1991395976c5184493bebca25e33465 +size 117808 diff --git a/src/test/resources/large/groundTruth/genome_prior.csv b/src/test/resources/large/groundTruth/genome_prior.csv new file mode 100644 index 00000000000..68a04bae159 --- /dev/null +++ b/src/test/resources/large/groundTruth/genome_prior.csv @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid sha256:fdef6d09dbdb1db319f6f4561ef4bbe53662e6e412386a803db3c853afe4d240 +size 1956 diff --git a/src/test/resources/large/groundTruth/ground_truth_scorer_output.csv b/src/test/resources/large/groundTruth/ground_truth_scorer_output.csv new file mode 100644 index 00000000000..e3c154d138c --- /dev/null +++ b/src/test/resources/large/groundTruth/ground_truth_scorer_output.csv @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid sha256:4d8963b8543fdd8522da78ed09560a67f3d6658638a49ed59d4c587c85738cf6 +size 121169 diff --git a/src/test/resources/large/groundTruth/ground_truth_scorer_output_filter.csv b/src/test/resources/large/groundTruth/ground_truth_scorer_output_filter.csv new file mode 100644 index 00000000000..7ff48f08e7b --- /dev/null +++ b/src/test/resources/large/groundTruth/ground_truth_scorer_output_filter.csv @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid sha256:140e38e827b31101b0f1e881ad7f14524110d51f6f5189f7856febb0a5e3e17e +size 117442 diff --git a/src/test/resources/large/groundTruth/ground_truth_scorer_output_genome_prior.csv b/src/test/resources/large/groundTruth/ground_truth_scorer_output_genome_prior.csv new file mode 100644 index 00000000000..51d4c32a3ee --- /dev/null +++ b/src/test/resources/large/groundTruth/ground_truth_scorer_output_genome_prior.csv @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid sha256:e28a63a0512375acfeaed02080e0fd12ae2f55e9ec1b473e7a6e5741bd5df5c5 +size 145408 diff --git a/src/test/resources/large/groundTruth/ground_truth_scorer_output_meancall.csv b/src/test/resources/large/groundTruth/ground_truth_scorer_output_meancall.csv new file mode 100644 index 00000000000..b0332753e4f --- /dev/null +++ b/src/test/resources/large/groundTruth/ground_truth_scorer_output_meancall.csv @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid sha256:2d9cdf557ff28002661d4d68a26950c2802d4f1f6b7580ed30e2a494b8c9a9f0 +size 897467 diff --git a/src/test/resources/large/groundTruth/ground_truth_scorer_output_report.txt b/src/test/resources/large/groundTruth/ground_truth_scorer_output_report.txt new file mode 100644 index 00000000000..f1e60bbee80 --- /dev/null +++ b/src/test/resources/large/groundTruth/ground_truth_scorer_output_report.txt @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid sha256:d3e276968d778867340599d20be701a08ba14440614f7be8cbe9add7569a6c4e +size 65675 diff --git a/src/test/resources/large/groundTruth/ground_truth_scorer_output_unclipped.csv b/src/test/resources/large/groundTruth/ground_truth_scorer_output_unclipped.csv new file mode 100644 index 00000000000..ffdb1e46422 --- /dev/null +++ b/src/test/resources/large/groundTruth/ground_truth_scorer_output_unclipped.csv @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid sha256:549f8c2eb02aa1aad1052e2653a5d009134592c7fdec9ace9d21957d3941a40c +size 95335 From e37b34498ddc8ea51a9df5871320af1e1777cde1 Mon Sep 17 00:00:00 2001 From: Dror Kessler Date: Wed, 6 Dec 2023 16:46:40 +0200 Subject: [PATCH 10/64] GroundTruthScorer doc update (#8597) --- .../groundtruth/GroundTruthScorer.java | 93 +++++++++++++++++++ 1 file changed, 93 insertions(+) diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/groundtruth/GroundTruthScorer.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/groundtruth/GroundTruthScorer.java index ff44ac5ca5d..f3191fbaadb 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/groundtruth/GroundTruthScorer.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/groundtruth/GroundTruthScorer.java @@ -37,6 +37,99 @@ import java.util.*; import java.util.zip.GZIPOutputStream; +/** + * Converts Ultima reads into flow-based annotation, and provides some general statistics regarding + * quality and errors relative to the reference. Ultima data is flow-based, and thus the original computed + * quality refers to each flow, rather than each base. In the Ultima cram/bam, there is a per-base representation + * of the original flow qualities, where the original quality is distributed along each flow (homopolymer). + * In order to reconstitute the original flow information, the tool incorporates the information encoded + * in the Ultima cram/bam, and outputs both the read in flow space, as well as a conversion of the aligned + * reference portion into flow space, and an alignment score. + * + *

Input

+ *
    + *
  • Ultima aligned SAM/BAM/CRAM
    • + *
+ * + *

Output

+ *
    + *
  • Per read ground truth information CSV and a ground truth scoring quality report, in GATK report format
    • + *
+ * + *

CSV Output Description

+ * csv with the read representation in flow space. The csv includes the following columns: + *
  • ReadName
    • + *
  • ReadKey : The signal of the read at each flow according to the flow order
    • + *
  • ReadIsReversed : Whether the read is reversed in the alignment
    • + *
  • ReadMQ : The mapping quality of the read
    • + *
  • ReadRQ : The read rq value
    • + *
  • GroundTruthKey : The aligned reference section, translated into per-flow signals
    • + *
  • ReadSequence
    • + *
  • Score : A flow-based alignment score. Since the alignment is per-flow, in the case that there’s a cycle skip, the read and reference flow signals will not be aligned, and therefore the score will be inaccurate.
    • + *
  • NormalizedScore: A flow-based normalized alignment score
    • + *
  • ErrorProbability : The error of each flow (corresponds to the signals in ReadKey)
    • + *
  • ReadKeyLength
    • + *
  • GroundTruthKeyLength
    • + *
  • CycleSkipStatus : One of NS (Non Skip), PCS (Possible Cycle Skip), or CS (Cycle Skip)
    • + *
  • Cigar
    • + *
  • LowestQBaseTP
    • + * + *

    GATK Report Description

    + * In the quality report (optional), the following tables are included: + * + *
  • qualReport:error rate per qual : The error rate for each quality. Columns:
    • + *
      + *
    • qual: The encoded quality + *
    • count: The number of times the quality was observed + *
    • error: The error rate of the flows with this qual + *
    • phred: the error translated into a phred score + *
    + * + *
  • qual_hmerReport:error rate per qual by hmer. The error rate for each quality and hmer combination. Columns:
    • + *
      + *
    • qual: The encoded quality + *
    • hmer: The hmer length + *
    • count: The number of times the quality was observed + *
    • error: The error rate of the flows with this qual + *
    + * + *
  • qual_hmer_deviation_base_Report:error rate per qual by hmer and deviation. The count of errors for each qual, hmer, deviation and base
    • + *
      + *
    • qual: The encoded quality + *
    • hmer: The hmer length + *
    • deviation: The deviation (difference in signal, relative to the reference) + *
    • base: The base + *
    • count: The number of times the deviation was observed + *
    + * + *
  • Phred/qual statistics per flow position report. Various statistics for each flow position in relationship to the found quality value. Columns:
    • + *
      + *
    • flow - flow position
      • + *
    • count - count of observations
      • + *
    • min - minimal observed quality
      • + *
    • max - maximal observed quality
      • + *
    • mean - mean observed value
      • + *
    • median - median observed value
      • + *
    • std - standard deviation
      • + *
    • p1...Pn - percentil columns, accotding to the --quality-percentiles parameter
      • + *
    + * + *

    Usage examples

    + * 
    + * gatk GroundTruthScorer \
+ *   -I input.bam \
+ *   -R reference.fasta.gz
+ *   -L chr20 \
+ *   --output-csv output.csv \
+ *   --report-file report.txt \
+ *   --omit-zeros-from-report \ (optional)
+ *   --features-file dbsnp.chr9.vcf.gz \ (optional)
+ *   --genome-prior genome_prior.csv (optional)
+ *
    + * + * {@GATK.walkertype ReadWalker} + */ + @CommandLineProgramProperties( summary = "Ground Truth Scorer", oneLineSummary = "Score reads against a reference/ground truth", From bf24519460c9b3484b0e035a4b8d2f51418e2160 Mon Sep 17 00:00:00 2001 From: droazen Date: Fri, 8 Dec 2023 15:46:16 -0500 Subject: [PATCH 11/64] Add a native GATK implementation for 2bit references, and remove the dependency on the ADAM library (#8606) * Add a native GATK implementation for 2bit references, with comprehensive unit tests * For now, this is only hooked up to the Spark codepath, but it could easily be hooked up to ReferenceDataSource and the Walker codepath as well * Remove the dependency on the ADAM library, to resolve conflicts with future dependency upgrades --- build.gradle | 11 +- .../engine/spark/GATKRegistrator.java | 29 - .../engine/spark/GATKSparkTool.java | 19 +- .../DirectFullByteArrayByteAccess.java | 24 - .../spark/datasources/ReadsSparkSink.java | 36 -- .../spark/datasources/ReadsSparkSource.java | 28 - .../ReferenceTwoBitSparkSource.java | 49 +- .../tools/spark/sv/utils/SVFastqUtils.java | 2 +- .../filtering/ReadOrientationFilter.java | 2 +- .../hellbender/utils/IntervalUtils.java | 46 ++ .../hellbender/utils/SimpleInterval.java | 8 +- .../PartiallyDeterminedHaplotype.java | 1 - .../BDGAlignmentRecordToGATKReadAdapter.java | 51 -- ...GATKReadToBDGAlignmentRecordConverter.java | 41 -- .../utils/read/ReadsWriteFormat.java | 7 +- .../utils/reference/TwoBitReference.java | 535 ++++++++++++++++++ .../hellbender/GATKBaseTest.java | 2 + .../datasources/ReadsSparkSinkUnitTest.java | 63 --- .../ReferenceMultiSparkSourceUnitTest.java | 23 +- .../utils/IntervalUtilsUnitTest.java | 116 ++++ .../utils/read/GATKReadAdaptersUnitTest.java | 37 -- .../reference/TwoBitReferenceUnitTest.java | 188 ++++++ .../hellbender/utils/reference/masked.2bit | Bin 0 -> 181 bytes 23 files changed, 933 insertions(+), 385 deletions(-) delete mode 100644 src/main/java/org/broadinstitute/hellbender/engine/spark/datasources/DirectFullByteArrayByteAccess.java delete mode 100644 src/main/java/org/broadinstitute/hellbender/utils/read/BDGAlignmentRecordToGATKReadAdapter.java delete mode 100644 src/main/java/org/broadinstitute/hellbender/utils/read/GATKReadToBDGAlignmentRecordConverter.java create mode 100644 src/main/java/org/broadinstitute/hellbender/utils/reference/TwoBitReference.java create mode 100644 src/test/java/org/broadinstitute/hellbender/utils/reference/TwoBitReferenceUnitTest.java create mode 100644 src/test/resources/org/broadinstitute/hellbender/utils/reference/masked.2bit diff --git a/build.gradle b/build.gradle index f9c05012bb8..a08413e2a94 100644 --- a/build.gradle +++ b/build.gradle @@ -287,7 +287,7 @@ dependencies { implementation 'commons-io:commons-io:2.5' implementation 'org.reflections:reflections:0.9.10' - implementation 'it.unimi.dsi:fastutil:7.0.6' + implementation 'it.unimi.dsi:fastutil:7.0.13' implementation 'org.broadinstitute:hdf5-java-bindings:1.1.0-hdf5_2.11.0' implementation 'org.broadinstitute:gatk-native-bindings:1.0.0' @@ -306,15 +306,6 @@ dependencies { } implementation 'com.thoughtworks.paranamer:paranamer:2.8' - implementation 'org.bdgenomics.bdg-formats:bdg-formats:0.5.0' - implementation('org.bdgenomics.adam:adam-core-spark2_2.12:0.28.0') { - exclude group: 'org.slf4j' - exclude group: 'org.apache.hadoop' - exclude group: 'org.scala-lang' - exclude module: 'kryo' - exclude module: 'hadoop-bam' - } - implementation 'org.jgrapht:jgrapht-core:1.1.0' implementation 'org.jgrapht:jgrapht-io:1.1.0' diff --git a/src/main/java/org/broadinstitute/hellbender/engine/spark/GATKRegistrator.java b/src/main/java/org/broadinstitute/hellbender/engine/spark/GATKRegistrator.java index 48f8099e620..ec576c9dea1 100644 --- a/src/main/java/org/broadinstitute/hellbender/engine/spark/GATKRegistrator.java +++ b/src/main/java/org/broadinstitute/hellbender/engine/spark/GATKRegistrator.java @@ -13,7 +13,6 @@ import htsjdk.variant.vcf.VCFHeaderLineType; import htsjdk.variant.vcf.VCFInfoHeaderLine; import org.apache.spark.serializer.KryoRegistrator; -import org.bdgenomics.adam.serialization.ADAMKryoRegistrator; import org.broadinstitute.hellbender.tools.funcotator.FuncotationMap; import org.broadinstitute.hellbender.tools.funcotator.dataSources.TableFuncotation; import org.broadinstitute.hellbender.tools.funcotator.metadata.VcfFuncotationMetadata; @@ -35,8 +34,6 @@ */ public class GATKRegistrator implements KryoRegistrator { - private final ADAMKryoRegistrator ADAMregistrator = new ADAMKryoRegistrator(); - public GATKRegistrator() {} /** @@ -76,32 +73,6 @@ public Allele newInstance() { @Override public void registerClasses(Kryo kryo) { - - registerGATKClasses(kryo); - - - // register the ADAM data types using Avro serialization, including: - // AlignmentRecord - // Genotype - // Variant - // DatabaseVariantAnnotation - // NucleotideContigFragment - // Contig - // StructuralVariant - // VariantCallingAnnotations - // VariantEffect - // DatabaseVariantAnnotation - // Dbxref - // Feature - // ReferencePosition - // ReferencePositionPair - // SingleReadBucket - // IndelRealignmentTarget - // TargetSet - // ZippedTargetSet - ADAMregistrator.registerClasses(kryo); - - //do this before and after ADAM to try and force our registrations to win out registerGATKClasses(kryo); } diff --git a/src/main/java/org/broadinstitute/hellbender/engine/spark/GATKSparkTool.java b/src/main/java/org/broadinstitute/hellbender/engine/spark/GATKSparkTool.java index 00474a6d38d..8e5bc3a9fbe 100644 --- a/src/main/java/org/broadinstitute/hellbender/engine/spark/GATKSparkTool.java +++ b/src/main/java/org/broadinstitute/hellbender/engine/spark/GATKSparkTool.java @@ -334,22 +334,11 @@ public JavaRDD getUnfilteredReads() { } protected JavaRDD getGatkReadJavaRDD(TraversalParameters traversalParameters, ReadsSparkSource source, GATKPath inputSpecifier) { - JavaRDD output; - // TODO: This if statement is a temporary hack until #959 gets resolve - if (inputSpecifier.hasExtension(".adam")) { - try { - output = source.getADAMReads(inputSpecifier, traversalParameters, getHeaderForReads()); - } catch (IOException e) { - throw new UserException("Failed to read ADAM file " + inputSpecifier, e); - } - - } else { - if (hasCramInput() && !hasReference()){ - throw UserException.MISSING_REFERENCE_FOR_CRAM; - } - output = source.getParallelReads(inputSpecifier, referenceArguments.getReferenceSpecifier(), traversalParameters, bamPartitionSplitSize, useNio); + if (hasCramInput() && !hasReference()) { + throw UserException.MISSING_REFERENCE_FOR_CRAM; } - return output; + + return source.getParallelReads(inputSpecifier, referenceArguments.getReferenceSpecifier(), traversalParameters, bamPartitionSplitSize, useNio); } /** diff --git a/src/main/java/org/broadinstitute/hellbender/engine/spark/datasources/DirectFullByteArrayByteAccess.java b/src/main/java/org/broadinstitute/hellbender/engine/spark/datasources/DirectFullByteArrayByteAccess.java deleted file mode 100644 index 4570e298fdd..00000000000 --- a/src/main/java/org/broadinstitute/hellbender/engine/spark/datasources/DirectFullByteArrayByteAccess.java +++ /dev/null @@ -1,24 +0,0 @@ -package org.broadinstitute.hellbender.engine.spark.datasources; - -import org.bdgenomics.utils.io.ByteArrayByteAccess; - -/** - * A version of org.bdgenomics.utils.io.ByteArrayByteAccess that makes no copies of byte array used for initialization. - * However DirectFullByteArrayByteAccess.readFully can only return a reference to the full underlying byte array. - * Therefore, the user should exercise caution that the underlying data does not get mutated. - */ -class DirectFullByteArrayByteAccess extends ByteArrayByteAccess { - private static final long serialVersionUID = 1L; - - DirectFullByteArrayByteAccess(byte[] bytes) { - super(bytes); - } - - @Override - public byte[] readFully(long offset, int length) { - if ((offset != 0) || (length != this.length())) { - throw new IllegalArgumentException("readFully can only return a reference to the full underlying byte array"); - } - return this.bytes(); - } -} diff --git a/src/main/java/org/broadinstitute/hellbender/engine/spark/datasources/ReadsSparkSink.java b/src/main/java/org/broadinstitute/hellbender/engine/spark/datasources/ReadsSparkSink.java index 96e932f5c0c..764faeeced5 100644 --- a/src/main/java/org/broadinstitute/hellbender/engine/spark/datasources/ReadsSparkSink.java +++ b/src/main/java/org/broadinstitute/hellbender/engine/spark/datasources/ReadsSparkSink.java @@ -6,28 +6,20 @@ import htsjdk.samtools.util.FileExtensions; import org.apache.hadoop.conf.Configuration; import org.apache.hadoop.fs.Path; -import org.apache.hadoop.mapreduce.Job; import org.apache.logging.log4j.LogManager; import org.apache.logging.log4j.Logger; -import org.apache.parquet.avro.AvroParquetOutputFormat; -import org.apache.spark.api.java.JavaPairRDD; import org.apache.spark.api.java.JavaRDD; import org.apache.spark.api.java.JavaSparkContext; import org.apache.spark.broadcast.Broadcast; -import org.bdgenomics.adam.models.ReadGroupDictionary; -import org.bdgenomics.adam.models.SequenceDictionary; -import org.bdgenomics.formats.avro.AlignmentRecord; import org.broadinstitute.hellbender.engine.GATKPath; import org.broadinstitute.hellbender.exceptions.GATKException; import org.broadinstitute.hellbender.exceptions.UserException; import org.broadinstitute.hellbender.utils.gcs.BucketUtils; import org.broadinstitute.hellbender.utils.read.GATKRead; -import org.broadinstitute.hellbender.utils.read.GATKReadToBDGAlignmentRecordConverter; import org.broadinstitute.hellbender.utils.read.HeaderlessSAMRecordCoordinateComparator; import org.broadinstitute.hellbender.utils.read.ReadsWriteFormat; import org.broadinstitute.hellbender.utils.spark.SparkUtils; import org.disq_bio.disq.*; -import scala.Tuple2; import java.io.IOException; import java.util.Comparator; @@ -131,11 +123,6 @@ public static void writeReads( ReadsFormatWriteOption formatWriteOption = ReadsFormatWriteOption.BAM; // use BAM if output file is a directory FileCardinalityWriteOption fileCardinalityWriteOption = FileCardinalityWriteOption.MULTIPLE; writeReads(ctx, absoluteOutputFile, referencePathSpecifier, readsToOutput, header, splittingIndexGranularity, formatWriteOption, fileCardinalityWriteOption); - } else if (format == ReadsWriteFormat.ADAM) { - if (outputPartsDir!=null) { - throw new GATKException(String.format("You specified the bam output parts directory %s, but requested an ADAM output format which does not use this option",outputPartsDir)); - } - writeReadsADAM(ctx, absoluteOutputFile, readsToOutput, header); } } @@ -155,29 +142,6 @@ private static void writeReads( .write(htsjdkReadsRdd, outputFile, writeOptions); } - private static void writeReadsADAM( - final JavaSparkContext ctx, final String outputFile, final JavaRDD reads, - final SAMFileHeader header) throws IOException { - final SequenceDictionary seqDict = SequenceDictionary.fromSAMSequenceDictionary(header.getSequenceDictionary()); - final ReadGroupDictionary readGroups = ReadGroupDictionary.fromSAMHeader(header); - final JavaPairRDD rddAlignmentRecords = - reads.map(read -> { - read.setHeaderStrict(header); - AlignmentRecord alignmentRecord = GATKReadToBDGAlignmentRecordConverter.convert(read, seqDict, readGroups); - read.setHeaderStrict(null); // Restore the header to its previous state so as not to surprise the caller - return alignmentRecord; - }).mapToPair(alignmentRecord -> new Tuple2<>(null, alignmentRecord)); - // instantiating a Job is necessary here in order to set the Hadoop Configuration... - final Job job = Job.getInstance(ctx.hadoopConfiguration()); - // ...here, which sets a config property that the AvroParquetOutputFormat needs when writing data. Specifically, - // we are writing the Avro schema to the Configuration as a JSON string. The AvroParquetOutputFormat class knows - // how to translate objects in the Avro data model to the Parquet primitives that get written. - AvroParquetOutputFormat.setSchema(job, AlignmentRecord.getClassSchema()); - deleteHadoopFile(outputFile, ctx.hadoopConfiguration()); - rddAlignmentRecords.saveAsNewAPIHadoopFile( - outputFile, Void.class, AlignmentRecord.class, AvroParquetOutputFormat.class, job.getConfiguration()); - } - private static void deleteHadoopFile(String fileToObliterate, Configuration conf) throws IOException { final Path pathToDelete = new Path(fileToObliterate); pathToDelete.getFileSystem(conf).delete(pathToDelete, true); diff --git a/src/main/java/org/broadinstitute/hellbender/engine/spark/datasources/ReadsSparkSource.java b/src/main/java/org/broadinstitute/hellbender/engine/spark/datasources/ReadsSparkSource.java index 7795015208b..7b2ef39789f 100644 --- a/src/main/java/org/broadinstitute/hellbender/engine/spark/datasources/ReadsSparkSource.java +++ b/src/main/java/org/broadinstitute/hellbender/engine/spark/datasources/ReadsSparkSource.java @@ -4,12 +4,8 @@ import htsjdk.samtools.SAMRecord; import htsjdk.samtools.SamReaderFactory; import htsjdk.samtools.ValidationStringency; -import org.apache.hadoop.mapreduce.Job; -import org.apache.parquet.avro.AvroParquetInputFormat; import org.apache.spark.api.java.JavaRDD; import org.apache.spark.api.java.JavaSparkContext; -import org.apache.spark.broadcast.Broadcast; -import org.bdgenomics.formats.avro.AlignmentRecord; import org.broadinstitute.hellbender.engine.GATKPath; import org.broadinstitute.hellbender.engine.ReadsDataSource; import org.broadinstitute.hellbender.engine.ReadsPathDataSource; @@ -136,30 +132,6 @@ public JavaRDD getParallelReads(final GATKPath readsPathSpecifier, fin return getParallelReads(readsPathSpecifier, referencePathSpecifier, null /* all reads */, splitSize); } - /** - * Loads ADAM reads stored as Parquet. - * @param inputPathSpecifier path to the Parquet data - * @return RDD of (ADAM-backed) GATKReads from the file. - */ - public JavaRDD getADAMReads(final GATKPath inputPathSpecifier, final TraversalParameters traversalParameters, final SAMFileHeader header) throws IOException { - Job job = Job.getInstance(ctx.hadoopConfiguration()); - AvroParquetInputFormat.setAvroReadSchema(job, AlignmentRecord.getClassSchema()); - Broadcast bHeader; - if (header == null) { - bHeader= ctx.broadcast(null); - } else { - bHeader = ctx.broadcast(header); - } - @SuppressWarnings("unchecked") - JavaRDD recordsRdd = ctx.newAPIHadoopFile( - inputPathSpecifier.getRawInputString(), AvroParquetInputFormat.class, Void.class, AlignmentRecord.class, job.getConfiguration()) - .values(); - JavaRDD readsRdd = recordsRdd.map(record -> new BDGAlignmentRecordToGATKReadAdapter(record, bHeader.getValue())); - JavaRDD filteredRdd = readsRdd.filter(record -> samRecordOverlaps(record.convertToSAMRecord(header), traversalParameters)); - - return fixPartitionsIfQueryGrouped(ctx, header, filteredRdd); - } - /** * Loads the header using Hadoop-BAM. * @param filePathSpecifier path to the bam. diff --git a/src/main/java/org/broadinstitute/hellbender/engine/spark/datasources/ReferenceTwoBitSparkSource.java b/src/main/java/org/broadinstitute/hellbender/engine/spark/datasources/ReferenceTwoBitSparkSource.java index dd68491a7bc..7d3ab8e3e30 100644 --- a/src/main/java/org/broadinstitute/hellbender/engine/spark/datasources/ReferenceTwoBitSparkSource.java +++ b/src/main/java/org/broadinstitute/hellbender/engine/spark/datasources/ReferenceTwoBitSparkSource.java @@ -1,27 +1,17 @@ package org.broadinstitute.hellbender.engine.spark.datasources; -import com.google.common.io.ByteStreams; import htsjdk.samtools.SAMSequenceDictionary; import htsjdk.samtools.SAMSequenceRecord; -import org.bdgenomics.adam.models.ReferenceRegion; -import org.bdgenomics.adam.util.TwoBitFile; -import org.bdgenomics.adam.util.TwoBitRecord; -import org.bdgenomics.formats.avro.Strand; -import org.bdgenomics.utils.io.ByteAccess; +import htsjdk.samtools.reference.ReferenceSequence; import org.broadinstitute.hellbender.engine.GATKPath; import org.broadinstitute.hellbender.utils.SimpleInterval; import org.broadinstitute.hellbender.utils.Utils; -import org.broadinstitute.hellbender.utils.gcs.BucketUtils; import org.broadinstitute.hellbender.utils.reference.ReferenceBases; -import scala.Tuple2; -import scala.collection.JavaConversions; +import org.broadinstitute.hellbender.utils.reference.TwoBitReference; import java.io.IOException; import java.io.Serializable; -import java.util.LinkedHashMap; -import java.util.List; -import java.util.Map; -import java.util.stream.Collectors; + /** * A ReferenceSource impl that is backed by a .2bit representation of a reference genome. This loads an entire .2bit @@ -34,8 +24,7 @@ public class ReferenceTwoBitSparkSource implements ReferenceSparkSource, Seriali public static final String TWO_BIT_EXTENSION = ".2bit"; private final String referenceURL; - private final TwoBitFile twoBitFile; - private final Map twoBitSeqEntries; + private final TwoBitReference twoBitFile; public ReferenceTwoBitSparkSource( GATKPath referencePathSpecifier) throws IOException { // It would simplify this class if we could cache the GATKPath, but ReferenceFileSparkSource @@ -43,13 +32,7 @@ public ReferenceTwoBitSparkSource( GATKPath referencePathSpecifier) throws IOExc // issue during broadcast with the Java 11 GATK build. See https://issues.apache.org/jira/browse/SPARK-26963. this.referenceURL = referencePathSpecifier.getRawInputString(); Utils.validateArg(isTwoBit(referencePathSpecifier), "ReferenceTwoBitSource can only take .2bit files"); - byte[] bytes = ByteStreams.toByteArray(BucketUtils.openFile(this.referenceURL)); - ByteAccess byteAccess = new DirectFullByteArrayByteAccess(bytes); - this.twoBitFile = new TwoBitFile(byteAccess); - this.twoBitSeqEntries = new LinkedHashMap<>(); - for (Tuple2 pair: JavaConversions.seqAsJavaList(twoBitFile.seqRecords())) { - twoBitSeqEntries.put(pair._1, pair._2); - } + this.twoBitFile = new TwoBitReference(new GATKPath(referenceURL)); } /** @@ -63,36 +46,24 @@ public ReferenceTwoBitSparkSource( GATKPath referencePathSpecifier) throws IOExc @Override public ReferenceBases getReferenceBases(SimpleInterval interval) throws IOException { final SimpleInterval queryInterval = cropIntervalAtContigEnd(interval); - final String bases = twoBitFile.extract(simpleIntervalToReferenceRegion(queryInterval)); - return new ReferenceBases(bases.getBytes(), queryInterval); + final ReferenceSequence result = twoBitFile.getReferenceBases(queryInterval); + return new ReferenceBases(result.getBases(), queryInterval); } @Override public SAMSequenceDictionary getReferenceSequenceDictionary(SAMSequenceDictionary optReadSequenceDictionaryToMatch) throws IOException { - List records = twoBitSeqEntries.entrySet().stream() - .map(pair -> new SAMSequenceRecord(pair.getKey(), pair.getValue().dnaSize())) - .collect(Collectors.toList()); - return new SAMSequenceDictionary(records); + return twoBitFile.getSequenceDictionary(); } public static boolean isTwoBit(final GATKPath referenceSpecifier) { return referenceSpecifier.getURI().getPath().endsWith(TWO_BIT_EXTENSION); } - private static ReferenceRegion simpleIntervalToReferenceRegion(SimpleInterval interval) { - // ADAM and GA4GH both use zero-based half-open intervals for genome coordinates - String contig = interval.getContig(); - long start = interval.getGA4GHStart(); - long end = interval.getGA4GHEnd(); - return new ReferenceRegion(contig, start, end, Strand.UNKNOWN); - } - private SimpleInterval cropIntervalAtContigEnd( final SimpleInterval interval ) { // The 2bit query API does not support queries beyond the ends of contigs, so we need // to truncate our interval at the contig end if necessary. - final TwoBitRecord contigRecord = twoBitSeqEntries.get(interval.getContig()); + final SAMSequenceRecord contigRecord = twoBitFile.getSequenceDictionary().getSequence(interval.getContig()); Utils.nonNull(contigRecord, () -> "Contig " + interval.getContig() + " not found in reference dictionary"); - return new SimpleInterval(interval.getContig(), interval.getStart(), Math.min(interval.getEnd(), contigRecord.dnaSize())); + return new SimpleInterval(interval.getContig(), interval.getStart(), Math.min(interval.getEnd(), contigRecord.getSequenceLength())); } - } diff --git a/src/main/java/org/broadinstitute/hellbender/tools/spark/sv/utils/SVFastqUtils.java b/src/main/java/org/broadinstitute/hellbender/tools/spark/sv/utils/SVFastqUtils.java index 6c016f84436..2f51a7df114 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/spark/sv/utils/SVFastqUtils.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/spark/sv/utils/SVFastqUtils.java @@ -4,7 +4,7 @@ import com.esotericsoftware.kryo.Kryo; import com.esotericsoftware.kryo.io.Input; import com.esotericsoftware.kryo.io.Output; -import com.netflix.servo.util.VisibleForTesting; +import com.google.common.annotations.VisibleForTesting; import htsjdk.samtools.*; import htsjdk.samtools.util.Locatable; import htsjdk.samtools.util.SequenceUtil; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/mutect/filtering/ReadOrientationFilter.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/mutect/filtering/ReadOrientationFilter.java index d6f3caf249d..fdcf85352de 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/mutect/filtering/ReadOrientationFilter.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/mutect/filtering/ReadOrientationFilter.java @@ -1,6 +1,6 @@ package org.broadinstitute.hellbender.tools.walkers.mutect.filtering; -import com.netflix.servo.util.VisibleForTesting; +import com.google.common.annotations.VisibleForTesting; import htsjdk.variant.variantcontext.Allele; import htsjdk.variant.variantcontext.Genotype; import htsjdk.variant.variantcontext.VariantContext; diff --git a/src/main/java/org/broadinstitute/hellbender/utils/IntervalUtils.java b/src/main/java/org/broadinstitute/hellbender/utils/IntervalUtils.java index 8190394d1e5..ca89735e854 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/IntervalUtils.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/IntervalUtils.java @@ -472,6 +472,52 @@ public static GenomeLocSortedSet sortAndMergeIntervals(final GenomeLocParser par return GenomeLocSortedSet.createSetFromList(parser, intervals); } + /** + * Merges a list of potentially-overlapping SimpleIntervals from a single contig into a new sorted list + * of intervals covering the same genomic territory but with all overlapping (and, if specified, adjacent) + * intervals merged. + * + * Since this method does not take a sequence dictionary, it imposes the restriction that all supplied intervals + * must be on the same contig (otherwise we would not know the contig ordering). + * + * @param raw List of intervals to merge, all from the same contig. Does not need to be sorted. + * @param rule Whether to merge adjacent intervals, or just overlapping intervals + * @return A new list of merged disjoint intervals, sorted by start position + */ + public static List sortAndMergeIntervalsFromSameContig(final List raw, final IntervalMergingRule rule) { + if (raw.isEmpty()) { + return new ArrayList<>(); + } + + // Since we're merging overlapping/adjacent intervals, we only need to sort by the start positions + final List rawSorted = new ArrayList<>(raw); + Collections.sort(rawSorted, Comparator.comparing(SimpleInterval::getStart)); + + final List merged = new ArrayList<>(); + final Iterator it = rawSorted.iterator(); + SimpleInterval prev = it.next(); + final String commonContig = prev.getContig(); + + while (it.hasNext()) { + final SimpleInterval curr = it.next(); + if ( ! curr.getContig().equals(commonContig) ) { + throw new IllegalArgumentException("This method can handle only intervals on the same contig, " + + "but found intervals from contigs " + commonContig + " and " + curr.getContig()); + } + + if (prev.overlaps(curr)) { + prev = prev.mergeWithContiguous(curr); + } else if (prev.contiguous(curr) && (rule == null || rule == IntervalMergingRule.ALL)) { + prev = prev.mergeWithContiguous(curr); + } else { + merged.add(prev); + prev = curr; + } + } + merged.add(prev); + return merged; + } + /** * computes whether the test interval list is equivalent to master. To be equivalent, test must * contain GenomeLocs covering every base in master, exactly once. Note that this algorithm diff --git a/src/main/java/org/broadinstitute/hellbender/utils/SimpleInterval.java b/src/main/java/org/broadinstitute/hellbender/utils/SimpleInterval.java index 4d61fe05092..bade66094bf 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/SimpleInterval.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/SimpleInterval.java @@ -304,7 +304,13 @@ public SimpleInterval spanWith( final Locatable other ) { return new SimpleInterval(contig, Math.min(start, other.getStart()), Math.max(end, other.getEnd())); } - private boolean contiguous(final Locatable that) { + /** + * Determines whether this interval is contiguous with (ie., overlaps or is directly adjacent to) the provided interval + * + * @param that interval to compare with + * @return true if this is contiguous with that, otherwise false + */ + public boolean contiguous(final Locatable that) { Utils.nonNull(that); return this.getContig().equals(that.getContig()) && this.getStart() <= that.getEnd() + 1 && that.getStart() <= this.getEnd() + 1; } diff --git a/src/main/java/org/broadinstitute/hellbender/utils/haplotype/PartiallyDeterminedHaplotype.java b/src/main/java/org/broadinstitute/hellbender/utils/haplotype/PartiallyDeterminedHaplotype.java index 4975f0308ed..a4c981d288b 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/haplotype/PartiallyDeterminedHaplotype.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/haplotype/PartiallyDeterminedHaplotype.java @@ -1,7 +1,6 @@ package org.broadinstitute.hellbender.utils.haplotype; import com.google.common.annotations.VisibleForTesting; -import com.netflix.servo.util.Objects; import htsjdk.samtools.Cigar; import htsjdk.variant.variantcontext.Allele; import org.broadinstitute.hellbender.utils.SimpleInterval; diff --git a/src/main/java/org/broadinstitute/hellbender/utils/read/BDGAlignmentRecordToGATKReadAdapter.java b/src/main/java/org/broadinstitute/hellbender/utils/read/BDGAlignmentRecordToGATKReadAdapter.java deleted file mode 100644 index 1c71944eed1..00000000000 --- a/src/main/java/org/broadinstitute/hellbender/utils/read/BDGAlignmentRecordToGATKReadAdapter.java +++ /dev/null @@ -1,51 +0,0 @@ -package org.broadinstitute.hellbender.utils.read; - -import htsjdk.samtools.SAMFileHeader; -import htsjdk.samtools.SAMRecord; -import org.bdgenomics.adam.converters.AlignmentRecordConverter; -import org.bdgenomics.adam.models.ReadGroupDictionary; -import org.bdgenomics.formats.avro.AlignmentRecord; - -/** - * Implementation of the {@link GATKRead} interface for the {@link AlignmentRecord} class. - * - * The AlignmentRecord class is the Avro-based data model used in the Big Data Genomics project (aka ADAM). It is also - * designed to capture the main functionality of a BAM file. The schema can be found in the bdg-formats repo: - * https://github.com/bigdatagenomics/bdg-formats - * - * Utilities for converting to/from a SAMRecord can be found in the adam-core Maven artifact, built from the main ADAM - * repo: - * https://github.com/bigdatagenomics/adam - * - * Because it is an Avro model, it admits an efficient on-wire serialized format and is also compatible with the Parquet - * columnar storage format. - * - * This adapter wraps an {@link AlignmentRecord} by first converting to a {@link SAMRecord} and then passing through - * to {@link SAMRecordToGATKReadAdapter}. - */ -public final class BDGAlignmentRecordToGATKReadAdapter extends SAMRecordToGATKReadAdapter { - private static final long serialVersionUID = 1L; - - private final AlignmentRecord alignmentRecord; - - public BDGAlignmentRecordToGATKReadAdapter(final AlignmentRecord alignmentRecord, final SAMFileHeader header) { - super(new AlignmentRecordConverter().convert(alignmentRecord, header, - ReadGroupDictionary.fromSAMHeader(header))); - this.alignmentRecord = alignmentRecord; - } - - public static GATKRead sparkReadAdapter(final AlignmentRecord record, final SAMFileHeader header) { - return new BDGAlignmentRecordToGATKReadAdapter(record, header); - } - - public static GATKRead sparkReadAdapter(final AlignmentRecord record) { - return new BDGAlignmentRecordToGATKReadAdapter(record, null); - } - - public AlignmentRecord convertToBDGAlignmentRecord() { return alignmentRecord; } - - @Override - public String toString() { - return commonToString(); - } -} diff --git a/src/main/java/org/broadinstitute/hellbender/utils/read/GATKReadToBDGAlignmentRecordConverter.java b/src/main/java/org/broadinstitute/hellbender/utils/read/GATKReadToBDGAlignmentRecordConverter.java deleted file mode 100644 index d56e72b7fa5..00000000000 --- a/src/main/java/org/broadinstitute/hellbender/utils/read/GATKReadToBDGAlignmentRecordConverter.java +++ /dev/null @@ -1,41 +0,0 @@ -package org.broadinstitute.hellbender.utils.read; - -import htsjdk.samtools.SAMFileHeader; -import htsjdk.samtools.SAMRecord; -import org.bdgenomics.formats.avro.AlignmentRecord; -import org.bdgenomics.adam.converters.SAMRecordConverter; -import org.bdgenomics.adam.models.SequenceDictionary; -import org.bdgenomics.adam.models.ReadGroupDictionary; - -/** - * Converts a GATKRead to a BDG AlignmentRecord - */ -public class GATKReadToBDGAlignmentRecordConverter { - private static final SAMRecordConverter converter = new SAMRecordConverter(); - - private SAMFileHeader header; - private SequenceDictionary dict; - private ReadGroupDictionary readGroups; - - public GATKReadToBDGAlignmentRecordConverter(SAMFileHeader header) { - this.header = header; - this.dict = SequenceDictionary.fromSAMSequenceDictionary(header.getSequenceDictionary()); - this.readGroups = ReadGroupDictionary.fromSAMHeader(header); - } - - public static AlignmentRecord convert( final GATKRead gatkRead, final SAMFileHeader header ) { - SequenceDictionary dict = SequenceDictionary.fromSAMSequenceDictionary(header.getSequenceDictionary()); - ReadGroupDictionary readGroups = ReadGroupDictionary.fromSAMHeader(header); - return GATKReadToBDGAlignmentRecordConverter.convert(gatkRead, header, dict, readGroups); - } - - public static AlignmentRecord convert( - final GATKRead gatkRead, final SAMFileHeader header, final SequenceDictionary dict, final ReadGroupDictionary readGroups ) { - return converter.convert(gatkRead.convertToSAMRecord(header)); - } - - public static AlignmentRecord convert( - final SAMRecord sam, final SequenceDictionary dict, final ReadGroupDictionary readGroups ) { - return converter.convert(sam); - } -} diff --git a/src/main/java/org/broadinstitute/hellbender/utils/read/ReadsWriteFormat.java b/src/main/java/org/broadinstitute/hellbender/utils/read/ReadsWriteFormat.java index 28b1815be42..ee4af779501 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/read/ReadsWriteFormat.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/read/ReadsWriteFormat.java @@ -14,10 +14,5 @@ public enum ReadsWriteFormat { /** * Write reads to a sharded set of BAM files */ - SHARDED, - - /** - * Write reads to a sharded set of ADAM-formatted Parquet files - */ - ADAM + SHARDED } diff --git a/src/main/java/org/broadinstitute/hellbender/utils/reference/TwoBitReference.java b/src/main/java/org/broadinstitute/hellbender/utils/reference/TwoBitReference.java new file mode 100644 index 00000000000..5368394226b --- /dev/null +++ b/src/main/java/org/broadinstitute/hellbender/utils/reference/TwoBitReference.java @@ -0,0 +1,535 @@ +package org.broadinstitute.hellbender.utils.reference; + +import com.google.common.io.ByteStreams; +import htsjdk.samtools.SAMSequenceDictionary; +import htsjdk.samtools.SAMSequenceRecord; +import htsjdk.samtools.reference.ReferenceSequence; +import htsjdk.samtools.util.PeekableIterator; +import org.broadinstitute.hellbender.engine.GATKPath; +import org.broadinstitute.hellbender.exceptions.UserException; +import org.broadinstitute.hellbender.utils.IntervalMergingRule; +import org.broadinstitute.hellbender.utils.IntervalUtils; +import org.broadinstitute.hellbender.utils.SimpleInterval; +import org.broadinstitute.hellbender.utils.Utils; +import org.broadinstitute.hellbender.utils.gcs.BucketUtils; + +import java.io.IOException; +import java.io.Serializable; +import java.nio.ByteBuffer; +import java.nio.ByteOrder; +import java.nio.file.Files; +import java.util.*; + +/** + * A class for reading a genomic reference stored in .2bit format. This format is defined here: + * + * http://genome.ucsc.edu/FAQ/FAQformat.html#format7 + * + * Note that this class stores the entire .2bit reference in memory (in packed form) to facilitate + * Spark broadcasts. + * + * Supported public operations are: + * {@link #getSequenceDictionary} + * {@link #getReferenceBases(SimpleInterval)} + * {@link #close} + * + * The constructor gives the option to either preserve lowercase (masked) bases, or uppercase them. + * Ambiguity codes are not supported by the 2bit format. + */ +public class TwoBitReference implements Serializable, AutoCloseable { + private static final long serialVersionUID = 1L; + + // Magic value at the start of a 2bit file + public static final int TWO_BIT_SIGNATURE = 0x1A412743; + + // Version of the 2bit format we support + public static final int TWO_BIT_SUPPORTED_VERSION = 0; + + // File extension for 2bit files + public static final String TWO_BIT_EXTENSION = ".2bit"; + + // Size of the 2bit header in bytes + public static final int HEADER_LENGTH_IN_BYTES = 16; + + private final GATKPath referencePath; + + // If true, preserve lowercase (masked) bases, otherwise uppercase all bases + private final boolean preserveCase; + + // The complete in-memory contents of the 2bit file. Initialized as read-only in the constructor + private final ByteBuffer rawBytes; + + // Byte order to use, as defined in the 2bit header + private ByteOrder byteOrder; + + // The total number of sequences in the file + private int sequenceCount; + + // LinkedHashMap because the order of the sequence records does matter + private LinkedHashMap sequenceRecords; + + private SAMSequenceDictionary sequenceDictionary; + + /** + * Creates a TwoBitReference that will uppercase all bases + * + * @param referencePath path to the 2bit reference + */ + public TwoBitReference( final GATKPath referencePath ) { + this(referencePath, false); + } + + /** + * Creates a TwoBitReference, and specifies whether bases should be uppercased + * + * @param referencePath path to the 2bit reference + * @param preserveCase if true, preserve lowercase (masked) bases, otherwise uppercase all bases + */ + public TwoBitReference( final GATKPath referencePath, final boolean preserveCase ) { + Utils.nonNull(referencePath); + Utils.validateArg(referencePath.getURI().getPath().endsWith(TWO_BIT_EXTENSION), "Twobit reference must end with a " + TWO_BIT_EXTENSION + " extension"); + + // Since the Java NIO APIs we're relying on use signed integers for file positions, we're + // limited to supporting files up to MAX_INT (2^31 - 1) bytes in size, even though the 2bit + // format should theoretically allow for files up to 2^32 bytes (ie., MAX_UNSIGNED_INT). + try { + final long referenceSizeInBytes = Files.size(referencePath.toPath()); + if ( referenceSizeInBytes > Integer.MAX_VALUE ) { + throw new UserException.CouldNotReadInputFile(referencePath, + "We currently only support 2bit references up to " + Integer.MAX_VALUE + + " bytes in size, but this file is " + referenceSizeInBytes + " bytes. " + + "This limitation may be removed in a future release."); + } + } catch ( IOException e ) { + throw new UserException.CouldNotReadInputFile(referencePath, "Error while checking the size of the 2bit reference file", e); + } + + this.referencePath = referencePath; + this.preserveCase = preserveCase; + + try { + // Load the raw contents of the 2bit file into a read-only in-memory ByteBuffer + rawBytes = ByteBuffer.wrap(ByteStreams.toByteArray(referencePath.getInputStream())).asReadOnlyBuffer(); + } catch ( IOException e ) { + throw new UserException.CouldNotReadInputFile(referencePath, "Unable to load bytes from 2bit input file", e); + } + + sequenceRecords = new LinkedHashMap<>(); + + readHeader(); + readSequenceRecordIndexAndMetadata(); + + sequenceDictionary = new SAMSequenceDictionary(); + for ( final TwoBitSequenceRecord twoBitSequenceRecord : sequenceRecords.values() ) { + sequenceDictionary.addSequence(new SAMSequenceRecord(twoBitSequenceRecord.getSequenceName(), twoBitSequenceRecord.getDNASize())); + } + } + + /** + * Reads the 2bit file header, and sets byte order for the rest of the file + * + * The file begins with a 16-byte header containing the following fields: + * + * signature - the number 0x1A412743 in the architecture of the machine that created the file + * version - zero for now. Readers should abort if they see a version number higher than 0 + * sequenceCount - the number of sequences in the file + * reserved - always zero for now + */ + private void readHeader() { + setByteOrder(ByteOrder.LITTLE_ENDIAN); + int signature = rawBytes.getInt(); + if ( signature != TWO_BIT_SIGNATURE ) { + setByteOrder(ByteOrder.BIG_ENDIAN); + rawBytes.position(0); + signature = rawBytes.getInt(); + + if ( signature != TWO_BIT_SIGNATURE ) { + throw new UserException.MalformedFile(referencePath, + "File does not start with the required 2bit signature value " + TWO_BIT_SIGNATURE); + } + } + + final int version = rawBytes.getInt(); + if ( version != TWO_BIT_SUPPORTED_VERSION ) { + throw new UserException.CouldNotReadInputFile(referencePath, + "File is version " + version + ", but we only support version " + TWO_BIT_SUPPORTED_VERSION); + } + + this.sequenceCount = rawBytes.getInt(); + if ( sequenceCount < 0 ) { + throw new UserException.MalformedFile(referencePath, + "Negative sequence count in 2bit header: " + sequenceCount); + } + + final int reservedValue = rawBytes.getInt(); + if ( reservedValue != 0 ) { + throw new UserException.MalformedFile(referencePath, + "Reserved header value must be 0 according to the 2bit spec, but found " + reservedValue); + } + } + + /** + * Reads and parses the sequence record index and metadata + * + * The header is followed by a file index, which contains one entry for each sequence. Each index entry contains three fields: + * + * nameSize - a byte containing the length of the name field + * name - the sequence name itself (in ASCII-compatible byte string), of variable length depending on nameSize + * offset - the 32-bit offset of the sequence data relative to the start of the file, not aligned to any 4-byte padding boundary + * + * The index is followed by the sequence records, which contain nine fields: + * + * dnaSize - number of bases of DNA in the sequence + * nBlockCount - the number of blocks of Ns in the file (representing unknown sequence) + * nBlockStarts - an array of length nBlockCount of 32 bit integers indicating the (0-based) starting position of a block of Ns + * nBlockSizes - an array of length nBlockCount of 32 bit integers indicating the length of a block of Ns + * maskBlockCount - the number of masked (lower-case) blocks + * maskBlockStarts - an array of length maskBlockCount of 32 bit integers indicating the (0-based) starting position of a masked block + * maskBlockSizes - an array of length maskBlockCount of 32 bit integers indicating the length of a masked block + * reserved - always zero for now + * packedDna - the DNA packed to two bits per base, represented as so: T - 00, C - 01, A - 10, G - 11. The first base is in the most significant 2-bit byte; the last base is in the least significant 2 bits. For example, the sequence TCAG is represented as 00011011. + */ + private void readSequenceRecordIndexAndMetadata() { + final ByteBuffer bytes = independentBufferView(); + bytes.position(HEADER_LENGTH_IN_BYTES); // seek past the header + + // First read the index, with the names of each sequence and start offsets for the sequence records + for ( int i = 0; i < sequenceCount; i++ ) { + final byte nameSize = rawBytes.get(); + final byte[] nameBytes = new byte[nameSize]; + rawBytes.get(nameBytes); + final String sequenceName = new String(nameBytes); + final int sequenceRecordStartOffset = rawBytes.getInt(); + + sequenceRecords.put(sequenceName, new TwoBitSequenceRecord(sequenceName, i, sequenceRecordStartOffset)); + } + + // Next read the metadata for each sequence (DNA size, N blocks, masked blocks, and start offset for the + // actual bases) from the sequence records + for ( final TwoBitSequenceRecord sequenceRecord : sequenceRecords.values() ) { + bytes.position(sequenceRecord.getSequenceRecordStartOffset()); + + sequenceRecord.setDNASize(bytes.getInt()); + + final int nBlockCount = bytes.getInt(); + final int[] nBlockStarts = new int[nBlockCount]; + final int[] nBlockSizes = new int[nBlockCount]; + for ( int i = 0; i < nBlockCount; i++ ) { + nBlockStarts[i] = bytes.getInt(); + } + for ( int i = 0; i < nBlockCount; i++ ) { + nBlockSizes[i] = bytes.getInt(); + } + sequenceRecord.setNBlocks(convertTwoBitBlocksToSortedMergedIntervals(sequenceRecord.getSequenceName(), nBlockStarts, nBlockSizes)); + + final int maskBlockCount = bytes.getInt(); + final int[] maskBlockStarts = new int[maskBlockCount]; + final int[] maskBlockSizes = new int[maskBlockCount]; + for ( int i = 0; i < maskBlockCount; i++ ) { + maskBlockStarts[i] = bytes.getInt(); + } + for ( int i = 0; i < maskBlockCount; i++ ) { + maskBlockSizes[i] = bytes.getInt(); + } + sequenceRecord.setMaskedBlocks(convertTwoBitBlocksToSortedMergedIntervals(sequenceRecord.getSequenceName(), maskBlockStarts, maskBlockSizes)); + + final int reservedValue = bytes.getInt(); + if ( reservedValue != 0 ) { + throw new UserException.MalformedFile(referencePath, + "Reserved value for sequence " + sequenceRecord.getSequenceName() + " must be zero, but is non-zero"); + } + + sequenceRecord.setSequenceBasesStartOffset(bytes.position()); + } + } + + private List convertTwoBitBlocksToSortedMergedIntervals( final String contig, final int[] zeroBasedBlockStarts, final int[] blockSizes ) { + final List intervals = new ArrayList<>(); + for ( int i = 0; i < zeroBasedBlockStarts.length; i++ ) { + final int oneBasedInclusiveStart = zeroBasedBlockStarts[i] + 1; + final int oneBasedInclusiveEnd = oneBasedInclusiveStart + blockSizes[i] - 1; + intervals.add(new SimpleInterval(contig, oneBasedInclusiveStart, oneBasedInclusiveEnd)); + } + + return IntervalUtils.sortAndMergeIntervalsFromSameContig(intervals, IntervalMergingRule.ALL); + } + + private void setByteOrder( final ByteOrder byteOrder ) { + this.byteOrder = byteOrder; + rawBytes.order(byteOrder); + } + + /** + * @return The sequence dictionary for this TwoBit reference + */ + public SAMSequenceDictionary getSequenceDictionary() { + return sequenceDictionary; + } + + /** + * @param interval Genomic interval to query (must be completely on the reference) + * @return the reference bases covering the specified interval + */ + public ReferenceSequence getReferenceBases( final SimpleInterval interval ) { + final TwoBitSequenceRecord sequenceRecord = sequenceRecords.get(interval.getContig()); + Utils.nonNull(sequenceRecord, "Sequence " + interval.getContig() + " not present in 2bit file " + referencePath); + if ( interval.getEnd() > sequenceRecord.getDNASize() ) { + throw new IllegalArgumentException("Query interval " + interval + " ends after the end of sequence " + + sequenceRecord.getSequenceName() + " (length " + sequenceRecord.getDNASize() + ")"); + } + + final byte[] sequenceBases = new byte[interval.getLengthOnReference()]; + final TwoBitBaseDecoder decoder = new TwoBitBaseDecoder(independentBufferView(), sequenceRecord, interval, preserveCase); + int baseOffset = 0; + + while ( decoder.hasNext() ) { + if ( baseOffset >= sequenceBases.length ) { + throw new IllegalStateException("2bit base decoder returned an unexpected number of bases"); + } + + sequenceBases[baseOffset] = decoder.next(); + baseOffset++; + } + + return new ReferenceSequence(sequenceRecord.getSequenceName(), sequenceRecord.getSequenceIndex(), sequenceBases); + } + + /** + * @return An independent view of the ByteBuffer containing the 2bit file contents, with its own + * position, limit, and mark values. The actual bytes in the buffer are not copied. + */ + private ByteBuffer independentBufferView() { + final ByteBuffer newView = rawBytes.asReadOnlyBuffer(); // does not duplicate the content, just creates a new view of it + newView.order(byteOrder); // byte order is not preserved by asReadOnlyBuffer() + newView.clear(); // resets the position/limit/mark, does not erase the buffer contents + return newView; + } + + @Override + public void close() { + // No-op for now, just here to allow seamless use in Autocloseable contexts. + // In a future version that does not store the entire reference in memory, we will need this. + } + + /** + * An Iterator that decodes the raw TwoBit reference for a specified interval. + * Each interval requires a new Iterator instance. + */ + private static class TwoBitBaseDecoder implements Iterator, Iterable, Serializable { + private static final long serialVersionUID = 1L; + + // A two-bit base encoding used as an index into this array will produce the corresponding base + private static final Byte[] twoBitEncodingToBase = { 'T', 'C', 'A', 'G' }; + + private final TwoBitSequenceRecord sequenceRecord; + + private final ByteBuffer rawBytes; + + private final SimpleInterval intervalToDecode; + + private final boolean preserveCase; + + // 1-based inclusive genomic position within our sequence's contig + private int currentOneBasedGenomicPosition; + + // Raw value of the current packed byte we're positioned on + private byte currentByte; + + // 0-based bit offset from the most significant bit in the current byte, marking the start of the next 2bit encoding + // Can be 0, 2, 4, or 6 + private int currentBitOffset; + + // The base that will be returned by the next call to next(), or null if the iteration is complete + private Byte nextBase; + + private PeekableIterator nBlockIterator; + private PeekableIterator maskedBlockIterator; + + /** + * @param rawBytes Raw byte buffer containing the complete TwoBit data. Should be an independent view of the + * buffer not shared with any other concurrent code. + * @param sequenceRecord TwoBitSequenceRecord for the contig we're accessing + * @param intervalToDecode Query interval to decode. Must match the TwoBitSequenceRecord's contig. + * @param preserveCase If true, preserve lowercase (masked) bases, otherwise convert all bases to uppercase. + */ + public TwoBitBaseDecoder( final ByteBuffer rawBytes, final TwoBitSequenceRecord sequenceRecord, final SimpleInterval intervalToDecode, final boolean preserveCase ) { + Utils.validate(intervalToDecode.getEnd() <= sequenceRecord.getDNASize(), "Interval " + intervalToDecode + " ends past the end of contig " + sequenceRecord.getSequenceName()); + Utils.validate(intervalToDecode.getContig().equals(sequenceRecord.getSequenceName()), "Interval " + intervalToDecode + " is on the wrong contig for sequence " + sequenceRecord.getSequenceName()); + + this.sequenceRecord = sequenceRecord; + this.intervalToDecode = intervalToDecode; + this.preserveCase = preserveCase; + + this.currentOneBasedGenomicPosition = intervalToDecode.getStart(); + this.rawBytes = rawBytes; + rawBytes.position(sequenceRecord.getSequenceBasesStartOffset() + ((currentOneBasedGenomicPosition - 1) / 4)); + this.currentByte = rawBytes.get(); + this.currentBitOffset = ((currentOneBasedGenomicPosition - 1) % 4) * 2; + + nBlockIterator = new PeekableIterator<>(sequenceRecord.getNBlocks().iterator()); + maskedBlockIterator = new PeekableIterator<>(sequenceRecord.getMaskedBlocks().iterator()); + advanceBlockIterators(); + + loadNextBase(); + } + + @Override + public Iterator iterator() { + return this; + } + + @Override + public boolean hasNext() { + return nextBase != null; + } + + @Override + public Byte next() { + if ( ! hasNext() ) { + throw new NoSuchElementException("next() called when iterator exhausted"); + } + + Byte toReturn = nextBase; + loadNextBase(); + return toReturn; + } + + private void loadNextBase() { + if ( iterationComplete() ) { + nextBase = null; + return; + } + + nextBase = decodeBaseAtCurrentPosition(); + if ( isPositionedAtNBase() ) { + nextBase = 'N'; + } else if ( isPositionedAtMaskedBase() && preserveCase ) { // Masked 'N' is not supported + nextBase = (byte) Character.toLowerCase(nextBase); + } + + advancePosition(); + } + + private Byte decodeBaseAtCurrentPosition() { + // The DNA is packed to two bits per base, represented as so: T - 00, C - 01, A - 10, G - 11. + // The first base is in the most significant 2-bit byte; the last base is in the least significant 2 bits. + return twoBitEncodingToBase[(currentByte >> (6 - currentBitOffset)) & 3]; + } + + private boolean iterationComplete() { + return currentOneBasedGenomicPosition > intervalToDecode.getEnd(); + } + + private void advancePosition() { + currentOneBasedGenomicPosition++; + if ( iterationComplete() ) { + return; + } + + // Bit offsets can be 0, 2, 4, or 6, corresponding to the start bit for each of the four bases encoded in a byte + if ( currentBitOffset <= 4 ) { + currentBitOffset += 2; + } else { // Advance to the next full byte + currentByte = rawBytes.get(); + currentBitOffset = 0; + } + + advanceBlockIterators(); + } + + private void advanceBlockIterators() { + advanceBlockIterator(nBlockIterator); + advanceBlockIterator(maskedBlockIterator); + } + + private void advanceBlockIterator( final PeekableIterator iterator ) { + while ( iterator.hasNext() && iterator.peek().getEnd() < currentOneBasedGenomicPosition ) { + iterator.next(); // we've passed this interval on the genome, so discard it + } + } + + private boolean isPositionedAtNBase() { + final SimpleInterval currentNBlock = nBlockIterator.peek(); + + return currentNBlock != null && currentNBlock.getStart() <= currentOneBasedGenomicPosition && + currentNBlock.getEnd() >= currentOneBasedGenomicPosition; + } + + private boolean isPositionedAtMaskedBase() { + final SimpleInterval currentMaskedBlock = maskedBlockIterator.peek(); + + return currentMaskedBlock != null && currentMaskedBlock.getStart() <= currentOneBasedGenomicPosition && + currentMaskedBlock.getEnd() >= currentOneBasedGenomicPosition; + } + } + + /** + * Stores the raw metadata for a specific sequence from the TwoBit file + */ + private static class TwoBitSequenceRecord implements Serializable { + private static final long serialVersionUID = 1L; + private final String sequenceName; + + private final int sequenceIndex; + + private final int sequenceRecordStartOffset; + + private int sequenceBasesStartOffset; + + private int dnaSize; + + private List nBlocks; + + private List maskedBlocks; + + public TwoBitSequenceRecord( final String sequenceName, final int sequenceIndex, final int sequenceRecordStartOffset ) { + this.sequenceName = sequenceName; + this.sequenceIndex = sequenceIndex; + this.sequenceRecordStartOffset = sequenceRecordStartOffset; + } + + public String getSequenceName() { + return sequenceName; + } + + public int getSequenceIndex() { + return sequenceIndex; + } + + public int getSequenceRecordStartOffset() { + return sequenceRecordStartOffset; + } + + public void setDNASize( final int dnaSize ) { + this.dnaSize = dnaSize; + } + + public int getDNASize() { + return dnaSize; + } + + public void setSequenceBasesStartOffset( final int sequenceBasesStartOffset ) { + this.sequenceBasesStartOffset = sequenceBasesStartOffset; + } + + public int getSequenceBasesStartOffset() { + return sequenceBasesStartOffset; + } + + public void setNBlocks( final List nBlocks ) { + this.nBlocks = nBlocks; + } + + public List getNBlocks() { + return nBlocks; + } + + public void setMaskedBlocks( final List maskedBlocks ) { + this.maskedBlocks = maskedBlocks; + } + + public List getMaskedBlocks() { + return maskedBlocks; + } + } +} diff --git a/src/test/java/org/broadinstitute/hellbender/GATKBaseTest.java b/src/test/java/org/broadinstitute/hellbender/GATKBaseTest.java index d93f28f22c0..e3da55c0299 100644 --- a/src/test/java/org/broadinstitute/hellbender/GATKBaseTest.java +++ b/src/test/java/org/broadinstitute/hellbender/GATKBaseTest.java @@ -69,6 +69,8 @@ public abstract class GATKBaseTest extends BaseTest { // All of chromosomes 20 and 21 from the b38 reference public static final String b38_reference_20_21 = largeFileTestDir + "Homo_sapiens_assembly38.20.21.fasta"; + public static final String b38_2bit_reference_20_21 = largeFileTestDir + "Homo_sapiens_assembly38.20.21.2bit"; + // ~600,000 reads from chromosomes 20 and 21 of an NA12878 WGS bam aligned to b37, plus ~50,000 unmapped reads public static final String NA12878_20_21_WGS_bam = largeFileTestDir + "CEUTrio.HiSeq.WGS.b37.NA12878.20.21.bam"; public static final String NA12878_20_21_WGS_mmp2_bam = largeFileTestDir + "CEUTrio.HiSeq.WGS.b37.NA12878.20.21.mmp2.bam"; diff --git a/src/test/java/org/broadinstitute/hellbender/engine/spark/datasources/ReadsSparkSinkUnitTest.java b/src/test/java/org/broadinstitute/hellbender/engine/spark/datasources/ReadsSparkSinkUnitTest.java index abc568e9d20..21b694e095e 100644 --- a/src/test/java/org/broadinstitute/hellbender/engine/spark/datasources/ReadsSparkSinkUnitTest.java +++ b/src/test/java/org/broadinstitute/hellbender/engine/spark/datasources/ReadsSparkSinkUnitTest.java @@ -74,27 +74,6 @@ public Object[][] loadReadsBAM() { }; } - @DataProvider(name = "loadReadsADAM") - public Object[][] loadReadsADAM() { - return new Object[][]{ - {testDataDir + "tools/BQSR/HiSeq.1mb.1RG.2k_lines.bam", "ReadsSparkSinkUnitTest1_ADAM"}, - {testDataDir + "tools/BQSR/expected.HiSeq.1mb.1RG.2k_lines.alternate.recalibrated.DIQ.bam", "ReadsSparkSinkUnitTest2_ADAM"}, - - // This file has unmapped reads that are set to the position of their mates -- the ordering check - // in the tests below will fail if our ordering of these reads relative to the mapped reads - // is not consistent with the definition of coordinate sorting as defined in - // htsjdk.samtools.SAMRecordCoordinateComparator - // - // This test is currently disabled, as this test case doesn't pass for ADAM (we have an open ticket for this: - // https://github.com/broadinstitute/gatk/issues/1254) - // {testDataDir + "tools/BQSR/CEUTrio.HiSeq.WGS.b37.ch20.1m-1m1k.NA12878.bam", "ReadsSparkSinkUnitTest3_ADAM"}, - - //This test is disabled because it fails on travis (passes locally though) - //https://github.com/broadinstitute/gatk/issues/1254 - // {NA12878_chr17_1k_BAM, "ReadsSparkSinkUnitTest4_ADAM"} - }; - } - // This bam was samtools sorted queryname bam, we expect if this were sorted to match the header that this would no longer match read-for-read due to differences in queryname-sort definitions compared to htsjdk @Test public void testReadsSparkSinkNotSortingReadsToHeader() throws IOException { @@ -242,46 +221,4 @@ public void readsSinkShardedTest(String inputBam, String outputFileName, String // reads are not globally sorted, so don't test that Assert.assertEquals(rddParallelReads.count(), rddParallelReads2.count()); } - - @Test(enabled = false, dataProvider = "loadReadsADAM", groups = "spark") - public void readsSinkADAMTest(String inputBam, String outputDirectoryName) throws IOException { - // Since the test requires that we not create the actual output directory in advance, - // we instead create its parent directory and mark it for deletion on exit. This protects - // us from naming collisions across multiple instances of the test suite. - final File outputParentDirectory = createTempDir(outputDirectoryName + "_parent"); - final File outputDirectory = new File(outputParentDirectory, outputDirectoryName); - final GATKPath inputBamSpecifier = new GATKPath(inputBam); - - JavaSparkContext ctx = SparkContextFactory.getTestSparkContext(); - - ReadsSparkSource readSource = new ReadsSparkSource(ctx); - JavaRDD rddParallelReads = readSource.getParallelReads(inputBamSpecifier, null) - .filter(r -> !r.isUnmapped()); // filter out unmapped reads (see comment below) - SAMFileHeader header = readSource.getHeader(inputBamSpecifier, null); - - ReadsSparkSink.writeReads(ctx, outputDirectory.getAbsolutePath(), null, rddParallelReads, header, ReadsWriteFormat.ADAM, 0, null, true, SBIIndexWriter.DEFAULT_GRANULARITY); - - JavaRDD rddParallelReads2 = readSource.getADAMReads(new GATKPath(outputDirectory.getAbsolutePath()), null, header); - Assert.assertEquals(rddParallelReads.count(), rddParallelReads2.count()); - - // Test the round trip - List samList = new ArrayList<>(rddParallelReads.collect());//make a mutable copy for sort - List adamList = new ArrayList<>(rddParallelReads2.collect());//make a mutable copy for sort - Comparator comparator = new ReadCoordinateComparator(header); - samList.sort(comparator); - adamList.sort(comparator); - for (int i = 0; i < samList.size(); i++) { - SAMRecord expected = samList.get(i).convertToSAMRecord(header); - SAMRecord observed = adamList.get(i).convertToSAMRecord(header); - // manually test equality of some fields, as there are issues with roundtrip BAM -> ADAM -> BAM - // see https://github.com/bigdatagenomics/adam/issues/823 - Assert.assertEquals(observed.getReadName(), expected.getReadName(), "readname"); - Assert.assertEquals(observed.getAlignmentStart(), expected.getAlignmentStart(), "getAlignmentStart"); - Assert.assertEquals(observed.getAlignmentEnd(), expected.getAlignmentEnd(), "getAlignmentEnd"); - Assert.assertEquals(observed.getFlags(), expected.getFlags(), "getFlags"); - Assert.assertEquals(observed.getMappingQuality(), expected.getMappingQuality(), "getMappingQuality"); - Assert.assertEquals(observed.getMateAlignmentStart(), expected.getMateAlignmentStart(), "getMateAlignmentStart"); - Assert.assertEquals(observed.getCigar(), expected.getCigar(), "getCigar"); - } - } } diff --git a/src/test/java/org/broadinstitute/hellbender/engine/spark/datasources/ReferenceMultiSparkSourceUnitTest.java b/src/test/java/org/broadinstitute/hellbender/engine/spark/datasources/ReferenceMultiSparkSourceUnitTest.java index e4bdd60e639..1161cf1386b 100644 --- a/src/test/java/org/broadinstitute/hellbender/engine/spark/datasources/ReferenceMultiSparkSourceUnitTest.java +++ b/src/test/java/org/broadinstitute/hellbender/engine/spark/datasources/ReferenceMultiSparkSourceUnitTest.java @@ -1,5 +1,7 @@ package org.broadinstitute.hellbender.engine.spark.datasources; +import htsjdk.samtools.SAMSequenceDictionary; +import htsjdk.samtools.SAMSequenceRecord; import org.apache.spark.SparkConf; import org.broadinstitute.hellbender.engine.GATKPath; import org.broadinstitute.hellbender.exceptions.UserException; @@ -17,11 +19,28 @@ public void testSerializeRoundTrip2Bit() { final ReferenceMultiSparkSource roundTrippedReference = SparkTestUtils.roundTripInKryo(referenceMultiSource, ReferenceMultiSparkSource.class, new SparkConf()); - Assert.assertEquals(roundTrippedReference.getReferenceSequenceDictionary(null), referenceMultiSource.getReferenceSequenceDictionary(null), - "\nActual ref: " + roundTrippedReference.getReferenceSequenceDictionary(null) + "\nExpected ref: " + referenceMultiSource.getReferenceSequenceDictionary(null)); + assertSequenceDictionariesAreEqual(roundTrippedReference.getReferenceSequenceDictionary(null), referenceMultiSource.getReferenceSequenceDictionary(null)); Assert.assertNotNull(roundTrippedReference.getReferenceWindowFunction()); } + // The HTSJDK equality checks rely on interning of Strings, which is difficult to make work with Spark. + // So we check for equality using String.equals() instead + private void assertSequenceDictionariesAreEqual(final SAMSequenceDictionary firstDict, final SAMSequenceDictionary secondDict) { + Assert.assertEquals(firstDict.size(), secondDict.size(), "Mismatch in sizes of sequence dictionaries after serialization"); + + for ( int i = 0; i < firstDict.size(); i++ ) { + final SAMSequenceRecord firstRecord = firstDict.getSequence(i); + final SAMSequenceRecord secondRecord = secondDict.getSequence(i); + + Assert.assertEquals(firstRecord.getSequenceName(), secondRecord.getSequenceName(), + "Mismatching contig names in sequence dictionaries after serialization"); + Assert.assertEquals(firstRecord.getSequenceLength(), secondRecord.getSequenceLength(), + "Mismatching contig lengths in sequence dictionaries after serialization"); + Assert.assertEquals(firstRecord.getAttributes(), secondRecord.getAttributes(), + "Mismatching attributes in sequence dictionaries after serialization"); + } + } + @Test(expectedExceptions = UserException.MissingReference.class) public void testBadReferenceFile() { new ReferenceMultiSparkSource( diff --git a/src/test/java/org/broadinstitute/hellbender/utils/IntervalUtilsUnitTest.java b/src/test/java/org/broadinstitute/hellbender/utils/IntervalUtilsUnitTest.java index 6da70ba0fad..3ae31f0dbdf 100644 --- a/src/test/java/org/broadinstitute/hellbender/utils/IntervalUtilsUnitTest.java +++ b/src/test/java/org/broadinstitute/hellbender/utils/IntervalUtilsUnitTest.java @@ -1264,6 +1264,122 @@ public void testSortAndMergeIntervals(IntervalMergingRule merge, List Assert.assertEquals(sorted, expected); } + @DataProvider(name = "testSortAndMergeIntervalsFromSameContigData") + public Object[][] testSortAndMergeIntervalsFromSameContigData() { + return new Object[][] { + // All overlapping + { Arrays.asList(new SimpleInterval("1", 1, 5), + new SimpleInterval("1", 3, 7), + new SimpleInterval("1", 5, 10)), + IntervalMergingRule.ALL, + Arrays.asList(new SimpleInterval("1", 1, 10)) + }, + + // Some overlapping + { Arrays.asList(new SimpleInterval("1", 1, 5), + new SimpleInterval("1", 3, 7), + new SimpleInterval("1", 9, 10)), + IntervalMergingRule.ALL, + Arrays.asList(new SimpleInterval("1", 1, 7), + new SimpleInterval("1", 9, 10)) + }, + + // Out of order + { Arrays.asList(new SimpleInterval("1", 100, 110), + new SimpleInterval("1", 105, 115), + new SimpleInterval("1", 1, 5), + new SimpleInterval("1", 3, 7), + new SimpleInterval("1", 5, 10)), + IntervalMergingRule.ALL, + Arrays.asList(new SimpleInterval("1", 1, 10), + new SimpleInterval("1", 100, 115)) + }, + + // Adjacent, IntervalMergingRule.ALL + { Arrays.asList(new SimpleInterval("1", 1, 5), + new SimpleInterval("1", 6, 10), + new SimpleInterval("1", 11, 15)), + IntervalMergingRule.ALL, + Arrays.asList(new SimpleInterval("1", 1, 15)) + }, + + // Adjacent, IntervalMergingRule.OVERLAPPING_ONLY + { Arrays.asList(new SimpleInterval("1", 1, 5), + new SimpleInterval("1", 6, 10), + new SimpleInterval("1", 11, 15)), + IntervalMergingRule.OVERLAPPING_ONLY, + Arrays.asList(new SimpleInterval("1", 1, 5), + new SimpleInterval("1", 6, 10), + new SimpleInterval("1", 11, 15)), + }, + + // Mix of overlapping and adjacent, IntervalMergingRule.ALL + { Arrays.asList(new SimpleInterval("1", 1, 5), + new SimpleInterval("1", 6, 10), + new SimpleInterval("1", 8, 15), + new SimpleInterval("1", 100, 200), + new SimpleInterval("1", 150, 250), + new SimpleInterval("1", 175, 275), + new SimpleInterval("1", 276, 300)), + IntervalMergingRule.ALL, + Arrays.asList(new SimpleInterval("1", 1, 15), + new SimpleInterval("1", 100, 300)) + }, + + // Mix of overlapping and adjacent, IntervalMergingRule.OVERLAPPING_ONLY + { Arrays.asList(new SimpleInterval("1", 1, 5), + new SimpleInterval("1", 6, 10), + new SimpleInterval("1", 8, 15), + new SimpleInterval("1", 100, 200), + new SimpleInterval("1", 150, 250), + new SimpleInterval("1", 175, 275), + new SimpleInterval("1", 276, 300)), + IntervalMergingRule.OVERLAPPING_ONLY, + Arrays.asList(new SimpleInterval("1", 1, 5), + new SimpleInterval("1", 6, 15), + new SimpleInterval("1", 100, 275), + new SimpleInterval("1", 276, 300)) + }, + + // Mix of overlapping and adjacent, IntervalMergingRule.ALL, out of order + { Arrays.asList(new SimpleInterval("1", 100, 200), + new SimpleInterval("1", 8, 15), + new SimpleInterval("1", 175, 275), + new SimpleInterval("1", 1, 5), + new SimpleInterval("1", 6, 10), + new SimpleInterval("1", 276, 300), + new SimpleInterval("1", 150, 250)), + IntervalMergingRule.ALL, + Arrays.asList(new SimpleInterval("1", 1, 15), + new SimpleInterval("1", 100, 300)) + }, + + // Empty list + { Collections.emptyList(), IntervalMergingRule.ALL, Collections.emptyList() }, + + // List of size 1 + { Arrays.asList(new SimpleInterval("1", 1, 5)), + IntervalMergingRule.ALL, + Arrays.asList(new SimpleInterval("1", 1, 5)) + } + }; + } + + @Test(dataProvider = "testSortAndMergeIntervalsFromSameContigData") + public void testSortAndMergeIntervalsFromSameContig(final List unmergedIntervals, + final IntervalMergingRule mergingRule, + final List expectedMergedIntervals) { + + final List actualMergedIntervals = IntervalUtils.sortAndMergeIntervalsFromSameContig(unmergedIntervals, mergingRule); + Assert.assertEquals(actualMergedIntervals, expectedMergedIntervals, "Wrong intervals after sortAndMergeIntervals()"); + } + + @Test(expectedExceptions = IllegalArgumentException.class) + public void testSortAndMergeIntervalsFromSameContigRejectsMultipleContigs() { + final List multiContigIntervals = Arrays.asList(new SimpleInterval("1", 1, 10), new SimpleInterval("1", 5, 15), new SimpleInterval("2", 1, 10)); + IntervalUtils.sortAndMergeIntervalsFromSameContig(multiContigIntervals, IntervalMergingRule.ALL); + } + @DataProvider(name="loadIntervalsNonMerge") public Object[][] getloadIntervalsNonMerge(){ final String severalIntervals = "src/test/resources/org/broadinstitute/hellbender/utils/interval/example_intervals.list"; diff --git a/src/test/java/org/broadinstitute/hellbender/utils/read/GATKReadAdaptersUnitTest.java b/src/test/java/org/broadinstitute/hellbender/utils/read/GATKReadAdaptersUnitTest.java index 7b05b4536b3..29845e0e20b 100644 --- a/src/test/java/org/broadinstitute/hellbender/utils/read/GATKReadAdaptersUnitTest.java +++ b/src/test/java/org/broadinstitute/hellbender/utils/read/GATKReadAdaptersUnitTest.java @@ -2,7 +2,6 @@ import htsjdk.samtools.*; -import org.bdgenomics.formats.avro.AlignmentRecord; import org.broadinstitute.hellbender.GATKBaseTest; import org.broadinstitute.hellbender.exceptions.GATKException; import org.broadinstitute.hellbender.utils.SimpleInterval; @@ -37,42 +36,6 @@ private static GATKRead basicReadBackedBySam() { return new SAMRecordToGATKReadAdapter(basicSAMRecord()); } - - @DataProvider(name = "readPairsForToString") - public Object[][] readPairsForToString() { - List testCases = new ArrayList<>(); - - final SAMRecord samRecord = basicSAMRecord(); - final GATKRead basicSamRead = new SAMRecordToGATKReadAdapter(samRecord); - - final SAMRecord samRecordUnmapped = basicUnmappedSAMRecord(); - samRecordUnmapped.setReadUnmappedFlag(true); - final GATKRead basicSamReadUnmapped = new SAMRecordToGATKReadAdapter(samRecordUnmapped); - - testCases.add(new GATKRead[]{basicSamRead, basicReadBackedByADAMRecord(samRecord)}); - - testCases.add(new GATKRead[]{basicSamReadUnmapped, basicReadBackedByADAMRecord(samRecordUnmapped)}); - return testCases.toArray(new Object[][]{}); - } - - private static GATKRead basicReadBackedByADAMRecord(final SAMRecord sam) { - final AlignmentRecord record = new AlignmentRecord(); - record.setReadName(sam.getReadName()); - record.setSequence(new String(sam.getReadBases())); - record.setStart((long)sam.getAlignmentStart()-1); //ADAM records are 0-based - record.setEnd((long)sam.getAlignmentEnd()-1); //ADAM records are 0-based - record.setReadMapped(!sam.getReadUnmappedFlag()); - record.setCigar(sam.getCigarString()); - record.setReferenceName(sam.getReferenceName()); - return new BDGAlignmentRecordToGATKReadAdapter(record, getSAMHeader()); - } - - @Test(dataProvider = "readPairsForToString") - public void testToString(final GATKRead read1, final GATKRead read2){ - Assert.assertNotEquals(read1, read2); - Assert.assertEquals(read1.toString(), read2.toString()); - } - private static SAMFileHeader getSAMHeader() { final SAMFileHeader header = ArtificialReadUtils.createArtificialSamHeader(2, 1, 1000000); final SAMReadGroupRecord readGroupRecord = new SAMReadGroupRecord(BASIC_READ_GROUP); diff --git a/src/test/java/org/broadinstitute/hellbender/utils/reference/TwoBitReferenceUnitTest.java b/src/test/java/org/broadinstitute/hellbender/utils/reference/TwoBitReferenceUnitTest.java new file mode 100644 index 00000000000..2f422add338 --- /dev/null +++ b/src/test/java/org/broadinstitute/hellbender/utils/reference/TwoBitReferenceUnitTest.java @@ -0,0 +1,188 @@ +package org.broadinstitute.hellbender.utils.reference; + +import htsjdk.samtools.SAMSequenceDictionary; +import htsjdk.samtools.SAMSequenceRecord; +import htsjdk.samtools.reference.ReferenceSequence; +import org.broadinstitute.hellbender.GATKBaseTest; +import org.broadinstitute.hellbender.engine.GATKPath; +import org.broadinstitute.hellbender.engine.ReferenceDataSource; +import org.broadinstitute.hellbender.utils.SimpleInterval; +import org.testng.Assert; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +import java.nio.charset.StandardCharsets; + +public class TwoBitReferenceUnitTest extends GATKBaseTest { + + // This FASTA contains some ambiguity codes such as M, which 2bit does not support. + // Therefore, in the tests that compare the fasta against the corresponding 2bit file, + // preservation of ambiguity codes is disabled. + private static final GATKPath largeFasta = new GATKPath(b38_reference_20_21); + private static final GATKPath largeTwoBit = new GATKPath(b38_2bit_reference_20_21); + + // A small reference with many masked bases, interspersed with N's. The complete sequence is: + // >chrMaskTest LN:180 + // TTCCAttgTTGTGATTTTGTGctaTTAAAATGATCAAAACANNNCCCTTAAAAATCTTAT + // TCTAACCTCTCAANNNCTTTTAAAaatgaNNNATTTCAGTACAGTCGGATGCATCTGTAA + // AAGATAAAAAtaTaACATTGATTAGTTTgCAAAAATAATTGTTTGACCCCAGTTAAGNga + // + // Created by running faToTwoBit (https://hgdownload.soe.ucsc.edu/admin/exe/macOSX.x86_64/faToTwoBit) + // on a fasta file with the above contents. + private static final GATKPath maskedTwoBitTest = new GATKPath(packageRootTestDir + "utils/reference/masked.2bit"); + + @Test + public void testGetSequenceDictionary() { + try ( final ReferenceDataSource fastaReader = ReferenceDataSource.of(largeFasta.toPath(), false); + final TwoBitReference twoBitReader = new TwoBitReference(largeTwoBit) ) { + + final SAMSequenceDictionary twoBitDictionary = twoBitReader.getSequenceDictionary(); + final SAMSequenceDictionary fastaDictionary = fastaReader.getSequenceDictionary(); + + // Can't use SAMSequenceDictionary.equals(), as it's too strict (checks optional attributes) + Assert.assertEquals(twoBitDictionary.size(), fastaDictionary.size(), "Size of 2bit dictionary does not match corresponding fasta dictionary"); + for ( int i = 0; i < fastaDictionary.size(); i++ ) { + final SAMSequenceRecord twoBitRecord = twoBitDictionary.getSequence(i); + final SAMSequenceRecord fastaRecord = fastaDictionary.getSequence(i); + + Assert.assertEquals(twoBitRecord.getSequenceName(), fastaRecord.getSequenceName(), + "2bit sequence dictionary record at index " + i + " has the wrong sequence name"); + Assert.assertEquals(twoBitRecord.getSequenceLength(), fastaRecord.getSequenceLength(), + "2bit sequence dictionary record at index " + i + " has the wrong sequence length"); + } + } + } + + @Test + public void testReadEntireReference() { + try ( final ReferenceDataSource fastaReader = ReferenceDataSource.of(largeFasta.toPath(), false); + final TwoBitReference twoBitReader = new TwoBitReference(largeTwoBit) ) { + + final SAMSequenceDictionary fastaDictionary = fastaReader.getSequenceDictionary(); + + for ( int i = 0; i < fastaDictionary.size(); i++ ) { + final SAMSequenceRecord fastaRecord = fastaDictionary.getSequence(i); + final SimpleInterval wholeContigInterval = new SimpleInterval(fastaRecord.getSequenceName(), 1, fastaRecord.getSequenceLength()); + + compareTwoBitAndFastaQueryResults(fastaReader, twoBitReader, wholeContigInterval); + } + } + } + + @DataProvider(name = "queryIntervals") + public Object[][] queryIntervals() { + return new Object[][] { + // Just ACGT bases + { new SimpleInterval("chr20", 60100, 60200)}, + + // A stretch of consecutive N's, and then ACGT bases + { new SimpleInterval("chr20", 59950, 60100) }, + + // Multiple nearby blocks of N's separated by ACGT bases + { new SimpleInterval("chr20", 28646100, 28648200) }, + + // A different contig + { new SimpleInterval("chr21", 20000000, 20001000) }, + + // An alt contig + { new SimpleInterval("chr21_KI270873v1_alt", 100000, 101000) } + }; + } + + @Test(dataProvider = "queryIntervals") + public void testQueryValidSubinterval(final SimpleInterval queryInterval) { + try ( final ReferenceDataSource fastaReader = ReferenceDataSource.of(largeFasta.toPath(), false); + final TwoBitReference twoBitReader = new TwoBitReference(largeTwoBit) ) { + + compareTwoBitAndFastaQueryResults(fastaReader, twoBitReader, queryInterval); + } + } + + private void compareTwoBitAndFastaQueryResults( final ReferenceDataSource fastaReader, final TwoBitReference twoBitReader, final SimpleInterval queryInterval ) { + final ReferenceSequence fastaSequence = fastaReader.queryAndPrefetch(queryInterval); + final ReferenceSequence twoBitSequence = twoBitReader.getReferenceBases(queryInterval); + + final byte[] fastaBases = fastaSequence.getBases(); + final byte[] twoBitBases = twoBitSequence.getBases(); + + Assert.assertEquals(twoBitBases.length, fastaBases.length, + "Wrong number of bases returned for " + queryInterval + " by 2bit reader"); + + for ( int baseIndex = 0; baseIndex < fastaBases.length; baseIndex++ ) { + Assert.assertEquals(twoBitBases[baseIndex], fastaBases[baseIndex], + "Wrong base returned by 2bit reader at position " + (baseIndex + 1) + " for interval " + queryInterval); + } + } + + @DataProvider(name = "invalidIntervals") + public Object[][] invalidIntervals() { + return new Object[][] { + // Contig not in reference + { new SimpleInterval("chr1", 1, 100) }, + + // Interval goes 1 base past the end of a valid contig + { new SimpleInterval("chr20", 1, 64444168) }, + + // Interval goes multiple bases past the end of a valid contig + { new SimpleInterval("chr20", 1, 64445000) }, + + // Interval starts after the end of a valid contig + { new SimpleInterval("chr20", 64444168, 64445000) } + }; + } + + @Test(dataProvider = "invalidIntervals", expectedExceptions = IllegalArgumentException.class) + public void testInvalidIntervals(final SimpleInterval invalidInterval) { + try ( final TwoBitReference twoBitReader = new TwoBitReference(largeTwoBit) ) { + twoBitReader.getReferenceBases(invalidInterval); + } + } + + @DataProvider(name = "maskedTestIntervals") + public Object[][] maskedTestIntervals() { + return new Object[][] { + // Entire contig + { new SimpleInterval("chrMaskTest", 1, 180), "TTCCAttgTTGTGATTTTGTGctaTTAAAATGATCAAAACANNNCCCTTAAAAATCTTATTCTAACCTCTCAANNNCTTTTAAAaatgaNNNATTTCAGTACAGTCGGATGCATCTGTAAAAGATAAAAAtaTaACATTGATTAGTTTgCAAAAATAATTGTTTGACCCCAGTTAAGNga" }, + + // Just masked bases + { new SimpleInterval("chrMaskTest", 6, 8), "ttg" }, + + // Masked bases, preceded and followed by ACGT bases + { new SimpleInterval("chrMaskTest", 5, 9), "AttgT" }, + + // Start and end within the middle of a block of masked bases, + // separated by a stretch of ACGT + { new SimpleInterval("chrMaskTest", 7, 23), "tgTTGTGATTTTGTGct" }, + + // Just masked bases and N's + { new SimpleInterval("chrMaskTest", 85, 92), "aatgaNNN" } + }; + } + + @Test(dataProvider = "maskedTestIntervals") + public void testMaskedBases(final SimpleInterval testInterval, final String expectedBases) { + // Create our TwoBitReference with "preserveCase" set to true for this masking test: + try ( final TwoBitReference twoBitReader = new TwoBitReference(maskedTwoBitTest, true) ) { + final byte[] twoBitBases = twoBitReader.getReferenceBases(testInterval).getBases(); + final byte[] expectedBaseArray = expectedBases.getBytes(StandardCharsets.US_ASCII); + + Assert.assertEquals(twoBitBases, expectedBaseArray, + "Wrong bases returned from query on 2bit reference. Actual: " + new String(twoBitBases) + " Expected: " + expectedBases); + } + } + + @Test + public void testMaskedReferenceWithUppercasing() { + final SimpleInterval testInterval = new SimpleInterval("chrMaskTest", 1, 180); + final String expectedBases = "TTCCATTGTTGTGATTTTGTGCTATTAAAATGATCAAAACANNNCCCTTAAAAATCTTATTCTAACCTCTCAANNNCTTTTAAAAATGANNNATTTCAGTACAGTCGGATGCATCTGTAAAAGATAAAAATATAACATTGATTAGTTTGCAAAAATAATTGTTTGACCCCAGTTAAGNGA"; + + // This time create our TwoBitReference with "preserveCase" set to false, to test auto-uppercasing: + try ( final TwoBitReference twoBitReader = new TwoBitReference(maskedTwoBitTest, false) ) { + final byte[] twoBitBases = twoBitReader.getReferenceBases(testInterval).getBases(); + final byte[] expectedBaseArray = expectedBases.getBytes(StandardCharsets.US_ASCII); + + Assert.assertEquals(twoBitBases, expectedBaseArray, + "Wrong bases returned from query on 2bit reference. Actual: " + new String(twoBitBases) + " Expected: " + expectedBases); + } + } +} diff --git a/src/test/resources/org/broadinstitute/hellbender/utils/reference/masked.2bit b/src/test/resources/org/broadinstitute/hellbender/utils/reference/masked.2bit new file mode 100644 index 0000000000000000000000000000000000000000..b252c7e52e10626b2245d3f4ea41f0b0bb4bfa2d GIT binary patch literal 181 zcmZ=(ca&lP0!9!41l-9PMZSr}*&(ULB?>_P79eH;Vof0S1mZ{_-U!6ZNEoD-9f(Aw+8-htL$a1_!Oh d4GlT7<$GIBt0{}ea9~}Sy literal 0 HcmV?d00001 From e2c5fabea7d9e17eb914444fdc3ea876f99eebfa Mon Sep 17 00:00:00 2001 From: droazen Date: Fri, 8 Dec 2023 16:57:30 -0500 Subject: [PATCH 12/64] Update dependencies to address security vulnerabilities, and add a security scanner to build.gradle (#8607) * Updated many GATK dependencies to address known security vulnerabilities * Added a security scanner to build.gradle * There are still some remaining vulnerabilities in GATK dependencies, but this eliminates most of them --- build.gradle | 39 ++++++++++++------- .../dragstr/DragstrParametersEstimator.java | 34 ++++++++-------- .../mafOutput/MafOutputRenderer.java | 2 +- .../SimpleTsvOutputRenderer.java | 11 +++++- .../spark/CreateHadoopBamSplittingIndex.java | 4 +- .../tools/walkers/ReadAnonymizer.java | 2 +- .../walkers/annotator/AnnotationUtils.java | 2 +- .../walkers/annotator/AssemblyComplexity.java | 2 +- .../walkers/annotator/FeaturizedReadSets.java | 2 +- .../annotator/OrientationBiasReadCounts.java | 2 +- .../walkers/annotator/ReferenceBases.java | 2 +- .../allelespecific/AS_QualByDepth.java | 2 +- .../allelespecific/AS_RankSumTest.java | 2 +- .../contamination/ContaminationModel.java | 2 +- .../contamination/ContaminationSegmenter.java | 2 +- .../walkers/featuremapping/SNVMapper.java | 2 +- .../GnarlyGenotyperEngine.java | 2 +- .../groundtruth/GroundTruthReadsBuilder.java | 2 +- .../graphs/AdaptiveChainPruner.java | 2 +- .../realignmentfilter/RealignmentEngine.java | 2 +- .../validation/AnnotateVcfWithBamDepth.java | 2 +- .../validation/CalculateMixingFractions.java | 2 +- .../tools/walkers/validation/Concordance.java | 2 +- .../walkers/vqsr/VariantDataManager.java | 2 +- .../modeling/BGMMVariantAnnotationsModel.java | 2 +- .../BGMMVariantAnnotationsScorer.java | 2 +- .../BayesianGaussianMixtureModeller.java | 2 +- .../codecs/sampileup/SAMPileupFeature.java | 2 +- .../utils/downsampling/MutectDownsampler.java | 2 +- .../utils/dragstr/DragstrParamsBuilder.java | 6 +-- .../dragstr/DragstrReferenceAnalyzer.java | 2 +- .../utils/dragstr/STRTableFile.java | 2 +- .../hellbender/utils/haplotype/Event.java | 2 +- .../utils/pairhmm/DragstrReadSTRAnalyzer.java | 2 +- .../hellbender/utils/param/ParamUtils.java | 15 ++++--- .../hellbender/utils/read/FlowBasedRead.java | 2 +- .../utils/read/FlowBasedReadUtils.java | 2 +- .../read/SAMRecordToGATKReadAdapter.java | 2 +- .../utils/runtime/CapturedStreamOutput.java | 2 +- .../utils/runtime/ProcessSettings.java | 2 +- .../dataSources/DataSourceUtilsUnitTest.java | 2 +- .../vcf/VcfFuncotationFactoryUnitTest.java | 2 +- .../CustomMafFuncotationCreatorUnitTest.java | 4 +- .../bqsr/ApplyBQSRIntegrationTest.java | 2 +- .../FilterVariantTranchesIntegrationTest.java | 2 +- .../vqsr/VariantDataManagerUnitTest.java | 2 +- .../VariantRecalibratorIntegrationTest.java | 2 +- .../BandPassActivityProfileUnitTest.java | 2 +- ...MMLikelihoodCalculationEngineUnitTest.java | 2 +- .../utils/param/ParamUtilsUnitTest.java | 23 ++++++----- .../covariates/ContextCovariateUnitTest.java | 2 +- 51 files changed, 120 insertions(+), 102 deletions(-) diff --git a/build.gradle b/build.gradle index a08413e2a94..fa68235fae8 100644 --- a/build.gradle +++ b/build.gradle @@ -16,6 +16,7 @@ plugins { id "com.github.johnrengelman.shadow" version "8.1.1" //used to build the shadow and sparkJars id "com.github.ben-manes.versions" version "0.12.0" //used for identifying dependencies that need updating id 'com.palantir.git-version' version '0.5.1' //version helper + id 'org.sonatype.gradle.plugins.scan' version '2.6.1' // scans for security vulnerabilities in our dependencies } @@ -60,16 +61,16 @@ final htsjdkVersion = System.getProperty('htsjdk.version','4.0.2') final picardVersion = System.getProperty('picard.version','3.1.1') final barclayVersion = System.getProperty('barclay.version','5.0.0') final sparkVersion = System.getProperty('spark.version', '3.3.1') -final hadoopVersion = System.getProperty('hadoop.version', '3.3.1') -final disqVersion = System.getProperty('disq.version','0.3.6') +final hadoopVersion = System.getProperty('hadoop.version', '3.3.6') +final disqVersion = System.getProperty('disq.version','0.3.8') final genomicsdbVersion = System.getProperty('genomicsdb.version','1.5.0') -final bigQueryVersion = System.getProperty('bigQuery.version', '2.31.0') -final bigQueryStorageVersion = System.getProperty('bigQueryStorage.version', '2.41.0') -final guavaVersion = System.getProperty('guava.version', '32.1.2-jre') +final bigQueryVersion = System.getProperty('bigQuery.version', '2.35.0') +final bigQueryStorageVersion = System.getProperty('bigQueryStorage.version', '2.47.0') +final guavaVersion = System.getProperty('guava.version', '32.1.3-jre') final log4j2Version = System.getProperty('log4j2Version', '2.17.1') final testNGVersion = '7.0.0' -final googleCloudNioDependency = 'com.google.cloud:google-cloud-nio:0.127.0' +final googleCloudNioDependency = 'com.google.cloud:google-cloud-nio:0.127.8' final baseJarName = 'gatk' final secondaryBaseJarName = 'hellbender' @@ -267,12 +268,12 @@ dependencies { // are routed to log4j implementation 'org.apache.logging.log4j:log4j-jcl:' + log4j2Version - implementation 'org.apache.commons:commons-lang3:3.5' - implementation 'org.apache.commons:commons-math3:3.5' + implementation 'org.apache.commons:commons-lang3:3.14.0' + implementation 'org.apache.commons:commons-math3:3.6.1' implementation 'org.hipparchus:hipparchus-stat:2.0' - implementation 'org.apache.commons:commons-collections4:4.1' - implementation 'org.apache.commons:commons-vfs2:2.0' - implementation 'org.apache.commons:commons-configuration2:2.4' + implementation 'org.apache.commons:commons-collections4:4.4' + implementation 'org.apache.commons:commons-vfs2:2.9.0' + implementation 'org.apache.commons:commons-configuration2:2.9.0' constraints { implementation('org.apache.commons:commons-text') { version { @@ -298,7 +299,7 @@ dependencies { } //there is no mllib_2.12.15:3.3.0, so stay use 2.12:3.3.0 - implementation ('org.apache.spark:spark-mllib_2.12:3.3.0') { + implementation ('org.apache.spark:spark-mllib_2.12:3.5.0') { // JUL is used by Google Dataflow as the backend logger, so exclude jul-to-slf4j to avoid a loop exclude module: 'jul-to-slf4j' exclude module: 'javax.servlet' @@ -338,7 +339,7 @@ dependencies { implementation 'org.broadinstitute:http-nio:0.1.0-rc1' // Required for COSMIC Funcotator data source: - implementation 'org.xerial:sqlite-jdbc:3.36.0.3' + implementation 'org.xerial:sqlite-jdbc:3.44.1.0' // natural sort implementation('net.grey-panther:natural-comparator:1.1') @@ -968,6 +969,18 @@ task gatkValidateGeneratedWdl(dependsOn: [gatkWDLGen, shadowJar]) { } } +// scan-gradle-plugin security vulnerability scan +ossIndexAudit { + allConfigurations = false // if true includes the dependencies in all resolvable configurations. By default is false, meaning only 'compileClasspath', 'runtimeClasspath', 'releaseCompileClasspath' and 'releaseRuntimeClasspath' are considered + useCache = true // true by default + outputFormat = 'DEFAULT' // Optional, other values are: 'DEPENDENCY_GRAPH' prints dependency graph showing direct/transitive dependencies, 'JSON_CYCLONE_DX_1_4' prints a CycloneDX 1.4 SBOM in JSON format. + showAll = false // if true prints all dependencies. By default is false, meaning only dependencies with vulnerabilities will be printed. + printBanner = true // if true will print ASCII text banner. By default is true. + + // ossIndexAudit can be configured to exclude vulnerabilities from matching + // excludeVulnerabilityIds = ['39d74cc8-457a-4e57-89ef-a258420138c5'] // list containing ids of vulnerabilities to be ignored + // excludeCoordinates = ['commons-fileupload:commons-fileupload:1.3'] // list containing coordinate of components which if vulnerable should be ignored +} /** *This specifies what artifacts will be built and uploaded when performing a maven upload. diff --git a/src/main/java/org/broadinstitute/hellbender/tools/dragstr/DragstrParametersEstimator.java b/src/main/java/org/broadinstitute/hellbender/tools/dragstr/DragstrParametersEstimator.java index 1cc37c6abe6..cac8afcae93 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/dragstr/DragstrParametersEstimator.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/dragstr/DragstrParametersEstimator.java @@ -1,6 +1,6 @@ package org.broadinstitute.hellbender.tools.dragstr; -import org.apache.commons.lang.math.IntRange; +import org.apache.commons.lang3.Range; import org.broadinstitute.hellbender.exceptions.UserException; import org.broadinstitute.hellbender.utils.MathUtils; import org.broadinstitute.hellbender.utils.dragstr.DragstrParams; @@ -143,38 +143,38 @@ private void estimatePeriod(final int period, final DragstrParamsBuilder destina } } - final ArrayDeque pending = new ArrayDeque<>(hyperParameters.maxRepeatLength); + final ArrayDeque> pending = new ArrayDeque<>(hyperParameters.maxRepeatLength); if (rightFlank >= leftFlank) { // We fill 'pending' with the repeat-length groups that will be analyze: // [1 .. leftFlank], leftFlank + 1, leftFlank + 2, ... , [rightFlank .. maxRepeats+] - pending.add(new IntRange(1, leftFlank)); + pending.add(Range.of(1, leftFlank)); for (leftFlank++; leftFlank <= rightFlank; leftFlank++) { - pending.add(new IntRange(leftFlank)); + pending.add(Range.is(leftFlank)); } - pending.add(new IntRange(++rightFlank, hyperParameters.maxRepeatLength)); + pending.add(Range.of(++rightFlank, hyperParameters.maxRepeatLength)); } else { // no enough data we simply put all repeat lengths is one single group: - pending.add(new IntRange(1, hyperParameters.maxRepeatLength)); + pending.add(Range.of(1, hyperParameters.maxRepeatLength)); } - IntRange last = null; + Range last = null; // Done will contain the ranges already processed. - final ArrayDeque done = new ArrayDeque<>(hyperParameters.maxRepeatLength); + final ArrayDeque> done = new ArrayDeque<>(hyperParameters.maxRepeatLength); do { - final IntRange next = pending.pop(); + final Range next = pending.pop(); estimatePeriodRepeatInterval(period, next, destination, cases); - final double gp1 = destination.gp(period, next.getMinimumInteger()); - final double api1 = destination.api(period, next.getMinimumInteger()); + final double gp1 = destination.gp(period, next.getMinimum()); + final double api1 = destination.api(period, next.getMinimum()); // if GP and API are "decreasing" with respect those from smaller repeat length // then we accepted them: - if (last == null || (destination.gp(period, last.getMaximumInteger()) >= gp1 && - destination.api(period, last.getMaximumInteger()) + hyperParameters.apiMonothresh >= api1)) { + if (last == null || (destination.gp(period, last.getMaximum()) >= gp1 && + destination.api(period, last.getMaximum()) + hyperParameters.apiMonothresh >= api1)) { done.addLast(last = next); // if not, the we group back this repeat-length group/range with last one and re-estimate (next-loop). } else { - pending.push(new IntRange(last.getMinimumNumber(), next.getMaximumNumber())); + pending.push(Range.of(last.getMinimum(), next.getMaximum())); done.removeLast(); last = !done.isEmpty() ? done.getLast() : null; } @@ -183,14 +183,14 @@ private void estimatePeriod(final int period, final DragstrParamsBuilder destina // Given a observed het/hom ratio the total number of reads, the variable ones and the length of the STR in bases. // calculate the optimal gp and api that maximizes the likelihood. - private void estimatePeriodRepeatInterval(final int period, final IntRange repeatRange, + private void estimatePeriodRepeatInterval(final int period, final Range repeatRange, final DragstrParamsBuilder builder, final StratifiedDragstrLocusCases cases) { int maxApiIdx = -1; int maxGpIdx = -1; double maxLog10Prob = Double.NEGATIVE_INFINITY; - final int minRepeat = repeatRange.getMinimumInteger(); - final int maxRepeat = repeatRange.getMaximumInteger(); + final int minRepeat = repeatRange.getMinimum(); + final int maxRepeat = repeatRange.getMaximum(); final int periodIdx = period - 1; final double maxLog10PHet = log10HetOverHomVar - Math.log10(1 + hyperParameters.hetToHomRatio); for (int i = 0; i < log10ApiValues.length; i++) { diff --git a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/mafOutput/MafOutputRenderer.java b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/mafOutput/MafOutputRenderer.java index 1ddaee9245a..44f0f879880 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/mafOutput/MafOutputRenderer.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/mafOutput/MafOutputRenderer.java @@ -6,7 +6,7 @@ import htsjdk.variant.variantcontext.VariantContext; import htsjdk.variant.vcf.VCFHeader; import htsjdk.variant.vcf.VCFHeaderLine; -import org.apache.commons.lang.StringUtils; +import org.apache.commons.lang3.StringUtils; import org.apache.logging.log4j.LogManager; import org.apache.logging.log4j.Logger; import org.broadinstitute.hellbender.exceptions.GATKException; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/simpletsvoutput/SimpleTsvOutputRenderer.java b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/simpletsvoutput/SimpleTsvOutputRenderer.java index b9459f5a9ad..9cb98f130ef 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/simpletsvoutput/SimpleTsvOutputRenderer.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/simpletsvoutput/SimpleTsvOutputRenderer.java @@ -18,7 +18,6 @@ import org.broadinstitute.hellbender.utils.tsv.TableColumnCollection; import org.broadinstitute.hellbender.utils.tsv.TableUtils; import org.broadinstitute.hellbender.utils.tsv.TableWriter; -import org.codehaus.plexus.util.StringUtils; import java.io.IOException; import java.nio.file.Path; @@ -356,7 +355,15 @@ excludedOutputFields, createColumnNameToAliasesMap(Resource.getResourceContentsA @VisibleForTesting static String[] splitAndTrim(final String text, final String separator ) { - return Stream.of(StringUtils.split(text, separator)).map(String::trim).toArray(String[]::new); + final String[] tokens = Utils.split(text, separator).stream().map(String::trim).toArray(String[]::new); + + // If we get a single empty token after trimming, return an empty array, as this is what + // the tests for this class expect: + if ( tokens.length == 1 && tokens[0].isEmpty() ) { + return new String[]{}; + } + + return tokens; } @VisibleForTesting diff --git a/src/main/java/org/broadinstitute/hellbender/tools/spark/CreateHadoopBamSplittingIndex.java b/src/main/java/org/broadinstitute/hellbender/tools/spark/CreateHadoopBamSplittingIndex.java index de6a914e42c..f1f71a6eb7f 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/spark/CreateHadoopBamSplittingIndex.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/spark/CreateHadoopBamSplittingIndex.java @@ -1,5 +1,6 @@ package org.broadinstitute.hellbender.tools.spark; +import com.google.common.io.Files; import htsjdk.samtools.*; import htsjdk.samtools.BAMSBIIndexer; import htsjdk.samtools.seekablestream.SeekableFileStream; @@ -18,7 +19,6 @@ import org.broadinstitute.hellbender.exceptions.UserException; import org.broadinstitute.hellbender.utils.io.IOUtils; import org.broadinstitute.hellbender.utils.read.ReadConstants; -import org.codehaus.plexus.util.FileUtils; import picard.cmdline.programgroups.OtherProgramGroup; import java.io.*; @@ -166,7 +166,7 @@ private static void assertBamIsCoordinateSorted(final SAMFileHeader header) { private static void assertIsBam(final File inputBam) { if(!BamFileIoUtils.isBamFile(inputBam)) { throw new UserException.BadInput("A splitting index is only relevant for a bam file, but a " - + "file with extension "+ FileUtils.getExtension(inputBam.getName()) + " was specified."); + + "file with extension "+ Files.getFileExtension(inputBam.getName()) + " was specified."); } } diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/ReadAnonymizer.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/ReadAnonymizer.java index 6c36592b6ae..16b5142fb84 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/ReadAnonymizer.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/ReadAnonymizer.java @@ -4,7 +4,7 @@ import htsjdk.samtools.CigarElement; import htsjdk.samtools.CigarOperator; import org.aeonbits.owner.util.Collections; -import org.apache.commons.lang.ArrayUtils; +import org.apache.commons.lang3.ArrayUtils; import org.broadinstitute.barclay.argparser.Argument; import org.broadinstitute.barclay.argparser.CommandLineProgramProperties; import org.broadinstitute.barclay.argparser.ExperimentalFeature; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/AnnotationUtils.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/AnnotationUtils.java index b0ff4985cec..1d9949b219e 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/AnnotationUtils.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/AnnotationUtils.java @@ -3,7 +3,7 @@ import htsjdk.variant.variantcontext.Allele; import htsjdk.variant.variantcontext.Genotype; import htsjdk.variant.variantcontext.VariantContext; -import org.apache.commons.lang.StringUtils; +import org.apache.commons.lang3.StringUtils; import org.broadinstitute.hellbender.tools.walkers.annotator.allelespecific.*; import org.broadinstitute.hellbender.utils.genotyper.AlleleLikelihoods; import org.broadinstitute.hellbender.utils.read.GATKRead; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/AssemblyComplexity.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/AssemblyComplexity.java index 931a6bb5256..7045f4678ec 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/AssemblyComplexity.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/AssemblyComplexity.java @@ -4,7 +4,7 @@ import htsjdk.samtools.util.Locatable; import htsjdk.variant.variantcontext.Allele; import htsjdk.variant.variantcontext.VariantContext; -import org.apache.commons.lang.mutable.MutableInt; +import org.apache.commons.lang3.mutable.MutableInt; import org.broadinstitute.barclay.argparser.Argument; import org.apache.commons.lang3.tuple.Triple; import org.broadinstitute.barclay.help.DocumentedFeature; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/FeaturizedReadSets.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/FeaturizedReadSets.java index c870d9693ee..c2a37a5a31d 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/FeaturizedReadSets.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/FeaturizedReadSets.java @@ -5,7 +5,7 @@ import htsjdk.variant.variantcontext.Genotype; import htsjdk.variant.variantcontext.GenotypeBuilder; import htsjdk.variant.variantcontext.VariantContext; -import org.apache.commons.lang.StringUtils; +import org.apache.commons.lang3.StringUtils; import org.broadinstitute.barclay.help.DocumentedFeature; import org.broadinstitute.gatk.nativebindings.smithwaterman.SWOverhangStrategy; import org.broadinstitute.hellbender.engine.FeatureContext; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/OrientationBiasReadCounts.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/OrientationBiasReadCounts.java index addbd29dfd7..96a749de50c 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/OrientationBiasReadCounts.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/OrientationBiasReadCounts.java @@ -4,7 +4,7 @@ import htsjdk.variant.variantcontext.Genotype; import htsjdk.variant.variantcontext.GenotypeBuilder; import htsjdk.variant.variantcontext.VariantContext; -import org.apache.commons.lang.mutable.MutableInt; +import org.apache.commons.lang3.mutable.MutableInt; import org.broadinstitute.barclay.help.DocumentedFeature; import org.broadinstitute.hellbender.engine.FeatureContext; import org.broadinstitute.hellbender.engine.ReferenceContext; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/ReferenceBases.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/ReferenceBases.java index 9c2d99b97b7..3ef5ade7148 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/ReferenceBases.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/ReferenceBases.java @@ -4,7 +4,7 @@ import htsjdk.variant.variantcontext.VariantContext; import htsjdk.variant.vcf.VCFHeaderLineType; import htsjdk.variant.vcf.VCFInfoHeaderLine; -import org.apache.commons.lang.StringUtils; +import org.apache.commons.lang3.StringUtils; import org.broadinstitute.barclay.help.DocumentedFeature; import org.broadinstitute.hellbender.engine.ReferenceContext; import org.broadinstitute.hellbender.utils.Utils; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/allelespecific/AS_QualByDepth.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/allelespecific/AS_QualByDepth.java index 9d78efd6d1b..f8bb3b3cea9 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/allelespecific/AS_QualByDepth.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/allelespecific/AS_QualByDepth.java @@ -7,7 +7,7 @@ import htsjdk.variant.vcf.VCFCompoundHeaderLine; import htsjdk.variant.vcf.VCFHeaderLine; import htsjdk.variant.vcf.VCFInfoHeaderLine; -import org.apache.commons.lang.StringUtils; +import org.apache.commons.lang3.StringUtils; import org.broadinstitute.barclay.help.DocumentedFeature; import org.broadinstitute.hellbender.engine.ReferenceContext; import org.broadinstitute.hellbender.tools.walkers.annotator.AnnotationUtils; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/allelespecific/AS_RankSumTest.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/allelespecific/AS_RankSumTest.java index 5b4af7ec0ff..ef01d6fbf62 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/allelespecific/AS_RankSumTest.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/allelespecific/AS_RankSumTest.java @@ -5,7 +5,7 @@ import htsjdk.variant.variantcontext.GenotypesContext; import htsjdk.variant.variantcontext.VariantContext; import htsjdk.variant.vcf.VCFConstants; -import org.apache.commons.lang.ArrayUtils; +import org.apache.commons.lang3.ArrayUtils; import org.apache.logging.log4j.LogManager; import org.apache.logging.log4j.Logger; import org.broadinstitute.hellbender.engine.ReferenceContext; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/contamination/ContaminationModel.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/contamination/ContaminationModel.java index 44b07f6fcfe..93420133913 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/contamination/ContaminationModel.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/contamination/ContaminationModel.java @@ -1,7 +1,7 @@ package org.broadinstitute.hellbender.tools.walkers.contamination; import htsjdk.samtools.util.OverlapDetector; -import org.apache.commons.lang.mutable.MutableDouble; +import org.apache.commons.lang3.mutable.MutableDouble; import org.apache.commons.lang3.tuple.ImmutablePair; import org.apache.commons.lang3.tuple.Pair; import org.apache.commons.math3.optim.univariate.UnivariatePointValuePair; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/contamination/ContaminationSegmenter.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/contamination/ContaminationSegmenter.java index 1a023488270..607f6691c58 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/contamination/ContaminationSegmenter.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/contamination/ContaminationSegmenter.java @@ -13,7 +13,7 @@ import java.util.stream.IntStream; public class ContaminationSegmenter { - public static final Range ALT_FRACTIONS_FOR_SEGMENTATION = Range.between(0.1, 0.9); + public static final Range ALT_FRACTIONS_FOR_SEGMENTATION = Range.of(0.1, 0.9); public static final double KERNEL_SEGMENTER_LINEAR_COST = 1.0; public static final double KERNEL_SEGMENTER_LOG_LINEAR_COST = 1.0; public static final int KERNEL_SEGMENTER_DIMENSION = 100; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/featuremapping/SNVMapper.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/featuremapping/SNVMapper.java index dcc8b6c450f..3f23cb5a6e6 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/featuremapping/SNVMapper.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/featuremapping/SNVMapper.java @@ -1,7 +1,7 @@ package org.broadinstitute.hellbender.tools.walkers.featuremapping; import htsjdk.samtools.CigarElement; -import org.apache.commons.lang.ArrayUtils; +import org.apache.commons.lang3.ArrayUtils; import org.apache.commons.text.similarity.LevenshteinDistance; import org.broadinstitute.hellbender.engine.ReferenceContext; import org.broadinstitute.hellbender.exceptions.GATKException; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/gnarlyGenotyper/GnarlyGenotyperEngine.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/gnarlyGenotyper/GnarlyGenotyperEngine.java index 7efb5687ac3..23550fd75a6 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/gnarlyGenotyper/GnarlyGenotyperEngine.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/gnarlyGenotyper/GnarlyGenotyperEngine.java @@ -4,7 +4,7 @@ import com.google.common.primitives.Ints; import htsjdk.variant.variantcontext.*; import htsjdk.variant.vcf.VCFConstants; -import org.apache.commons.lang.StringUtils; +import org.apache.commons.lang3.StringUtils; import org.apache.commons.lang3.tuple.Pair; import org.broadinstitute.hellbender.exceptions.UserException; import org.broadinstitute.hellbender.tools.walkers.annotator.*; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/groundtruth/GroundTruthReadsBuilder.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/groundtruth/GroundTruthReadsBuilder.java index cee262d277c..7b32156c40a 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/groundtruth/GroundTruthReadsBuilder.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/groundtruth/GroundTruthReadsBuilder.java @@ -5,7 +5,7 @@ import htsjdk.samtools.util.Locatable; import htsjdk.samtools.util.SequenceUtil; import htsjdk.samtools.util.Tuple; -import org.apache.commons.lang.ArrayUtils; +import org.apache.commons.lang3.ArrayUtils; import org.apache.commons.lang3.StringUtils; import org.apache.logging.log4j.LogManager; import org.apache.logging.log4j.Logger; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/graphs/AdaptiveChainPruner.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/graphs/AdaptiveChainPruner.java index 095e2dab8ea..dd02b8e8d4b 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/graphs/AdaptiveChainPruner.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/graphs/AdaptiveChainPruner.java @@ -2,7 +2,7 @@ import com.google.common.collect.ArrayListMultimap; import com.google.common.collect.Multimap; -import org.apache.commons.lang.mutable.MutableInt; +import org.apache.commons.lang3.mutable.MutableInt; import org.apache.commons.lang3.tuple.ImmutablePair; import org.apache.commons.lang3.tuple.Pair; import org.broadinstitute.hellbender.tools.walkers.mutect.Mutect2Engine; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/realignmentfilter/RealignmentEngine.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/realignmentfilter/RealignmentEngine.java index 567849d8eb8..4fdd792f952 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/realignmentfilter/RealignmentEngine.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/realignmentfilter/RealignmentEngine.java @@ -7,7 +7,7 @@ import htsjdk.samtools.util.OverlapDetector; import htsjdk.variant.variantcontext.Allele; import htsjdk.variant.variantcontext.VariantContext; -import org.apache.commons.lang.ArrayUtils; +import org.apache.commons.lang3.ArrayUtils; import org.apache.commons.lang3.tuple.Pair; import org.broadinstitute.hellbender.tools.spark.sv.utils.Strand; import org.broadinstitute.hellbender.utils.SimpleInterval; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/validation/AnnotateVcfWithBamDepth.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/validation/AnnotateVcfWithBamDepth.java index deded35a8aa..f2740aa5eef 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/validation/AnnotateVcfWithBamDepth.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/validation/AnnotateVcfWithBamDepth.java @@ -4,7 +4,7 @@ import htsjdk.variant.variantcontext.VariantContextBuilder; import htsjdk.variant.variantcontext.writer.VariantContextWriter; import htsjdk.variant.vcf.*; -import org.apache.commons.lang.mutable.MutableInt; +import org.apache.commons.lang3.mutable.MutableInt; import org.broadinstitute.barclay.argparser.Argument; import org.broadinstitute.barclay.argparser.CommandLineProgramProperties; import org.broadinstitute.barclay.help.DocumentedFeature; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/validation/CalculateMixingFractions.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/validation/CalculateMixingFractions.java index 0a6da300dac..9ed5ce6bd85 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/validation/CalculateMixingFractions.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/validation/CalculateMixingFractions.java @@ -2,7 +2,7 @@ import htsjdk.variant.variantcontext.VariantContext; import htsjdk.variant.vcf.*; -import org.apache.commons.lang.mutable.MutableLong; +import org.apache.commons.lang3.mutable.MutableLong; import org.broadinstitute.barclay.argparser.Argument; import org.broadinstitute.barclay.argparser.CommandLineProgramProperties; import org.broadinstitute.barclay.help.DocumentedFeature; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/validation/Concordance.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/validation/Concordance.java index 252d3f046b2..458ad8260fb 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/validation/Concordance.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/validation/Concordance.java @@ -5,7 +5,7 @@ import htsjdk.variant.variantcontext.writer.VariantContextWriter; import htsjdk.variant.vcf.*; import org.apache.commons.collections4.Predicate; -import org.apache.commons.lang.mutable.MutableLong; +import org.apache.commons.lang3.mutable.MutableLong; import org.broadinstitute.barclay.argparser.Argument; import org.broadinstitute.barclay.argparser.CommandLineProgramProperties; import org.broadinstitute.barclay.help.DocumentedFeature; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/vqsr/VariantDataManager.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/vqsr/VariantDataManager.java index f6517a5634b..381b755ccb4 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/vqsr/VariantDataManager.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/vqsr/VariantDataManager.java @@ -6,7 +6,7 @@ import htsjdk.variant.variantcontext.VariantContext; import htsjdk.variant.variantcontext.VariantContextBuilder; import htsjdk.variant.vcf.VCFConstants; -import org.apache.commons.lang.ArrayUtils; +import org.apache.commons.lang3.ArrayUtils; import org.apache.commons.lang3.AnnotationUtils; import org.apache.logging.log4j.Logger; import org.apache.logging.log4j.LogManager; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/modeling/BGMMVariantAnnotationsModel.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/modeling/BGMMVariantAnnotationsModel.java index 9f46d801869..f8057c66b9e 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/modeling/BGMMVariantAnnotationsModel.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/modeling/BGMMVariantAnnotationsModel.java @@ -1,6 +1,6 @@ package org.broadinstitute.hellbender.tools.walkers.vqsr.scalable.modeling; -import org.apache.commons.lang.NotImplementedException; +import org.apache.commons.lang3.NotImplementedException; import java.io.File; import java.io.Serializable; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/modeling/BGMMVariantAnnotationsScorer.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/modeling/BGMMVariantAnnotationsScorer.java index 5a51dcf8dfb..a3fad2892eb 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/modeling/BGMMVariantAnnotationsScorer.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/modeling/BGMMVariantAnnotationsScorer.java @@ -1,6 +1,6 @@ package org.broadinstitute.hellbender.tools.walkers.vqsr.scalable.modeling; -import org.apache.commons.lang.NotImplementedException; +import org.apache.commons.lang3.NotImplementedException; import org.apache.logging.log4j.Logger; import org.broadinstitute.hdf5.HDF5File; import org.broadinstitute.hdf5.HDF5LibException; diff --git a/src/main/java/org/broadinstitute/hellbender/utils/clustering/BayesianGaussianMixtureModeller.java b/src/main/java/org/broadinstitute/hellbender/utils/clustering/BayesianGaussianMixtureModeller.java index fc759db3e9d..923b2e6cc5a 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/clustering/BayesianGaussianMixtureModeller.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/clustering/BayesianGaussianMixtureModeller.java @@ -1,6 +1,6 @@ package org.broadinstitute.hellbender.utils.clustering; -import org.apache.commons.lang.NotImplementedException; +import org.apache.commons.lang3.NotImplementedException; import org.apache.commons.math3.linear.RealMatrix; import org.apache.commons.math3.linear.RealVector; diff --git a/src/main/java/org/broadinstitute/hellbender/utils/codecs/sampileup/SAMPileupFeature.java b/src/main/java/org/broadinstitute/hellbender/utils/codecs/sampileup/SAMPileupFeature.java index fba18d7317c..e001c065845 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/codecs/sampileup/SAMPileupFeature.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/codecs/sampileup/SAMPileupFeature.java @@ -3,7 +3,7 @@ import htsjdk.samtools.SAMUtils; import htsjdk.samtools.util.StringUtil; import htsjdk.tribble.Feature; -import org.apache.commons.lang.ArrayUtils; +import org.apache.commons.lang3.ArrayUtils; import org.broadinstitute.hellbender.utils.Utils; import java.util.List; diff --git a/src/main/java/org/broadinstitute/hellbender/utils/downsampling/MutectDownsampler.java b/src/main/java/org/broadinstitute/hellbender/utils/downsampling/MutectDownsampler.java index 1f979574f57..2bb3d3c4884 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/downsampling/MutectDownsampler.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/downsampling/MutectDownsampler.java @@ -1,6 +1,6 @@ package org.broadinstitute.hellbender.utils.downsampling; -import org.apache.commons.lang.mutable.MutableInt; +import org.apache.commons.lang3.mutable.MutableInt; import org.broadinstitute.hellbender.utils.Utils; import org.broadinstitute.hellbender.utils.param.ParamUtils; import org.broadinstitute.hellbender.utils.read.GATKRead; diff --git a/src/main/java/org/broadinstitute/hellbender/utils/dragstr/DragstrParamsBuilder.java b/src/main/java/org/broadinstitute/hellbender/utils/dragstr/DragstrParamsBuilder.java index 4c5d729c554..859ea09d481 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/dragstr/DragstrParamsBuilder.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/dragstr/DragstrParamsBuilder.java @@ -1,6 +1,6 @@ package org.broadinstitute.hellbender.utils.dragstr; -import org.apache.commons.lang.math.IntRange; +import org.apache.commons.lang3.Range; import org.broadinstitute.hellbender.utils.Utils; /** @@ -23,8 +23,8 @@ public DragstrParamsBuilder(final int maxPeriod, final int maxRepeats) { this.api = new double[maxPeriod][maxRepeats]; } - public void set(final int period, final IntRange repeatRange, final double gp, final double gcp, final double api) { - for (int i = repeatRange.getMinimumInteger(); i <= repeatRange.getMaximumInteger(); i++) { + public void set(final int period, final Range repeatRange, final double gp, final double gcp, final double api) { + for (int i = repeatRange.getMinimum(); i <= repeatRange.getMaximum(); i++) { set(period, i, gp, gcp, api); } } diff --git a/src/main/java/org/broadinstitute/hellbender/utils/dragstr/DragstrReferenceAnalyzer.java b/src/main/java/org/broadinstitute/hellbender/utils/dragstr/DragstrReferenceAnalyzer.java index 50ba723a21f..5f47f531f3c 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/dragstr/DragstrReferenceAnalyzer.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/dragstr/DragstrReferenceAnalyzer.java @@ -1,6 +1,6 @@ package org.broadinstitute.hellbender.utils.dragstr; -import org.apache.commons.lang.ArrayUtils; +import org.apache.commons.lang3.ArrayUtils; import org.broadinstitute.hellbender.utils.Utils; import java.util.Arrays; diff --git a/src/main/java/org/broadinstitute/hellbender/utils/dragstr/STRTableFile.java b/src/main/java/org/broadinstitute/hellbender/utils/dragstr/STRTableFile.java index 0a292e300cd..05ed9fe0579 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/dragstr/STRTableFile.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/dragstr/STRTableFile.java @@ -46,7 +46,7 @@ private STRTableFile(final File dir) { this.dir = dir; final String source = new File(dir, REF_DICTIONARY_FILE_NAME).toString(); try (final LineReader lineReader = new BufferedLineReader(new FileInputStream(source))) { - this.dictionary = new SAMSequenceDictionaryCodec(new NullWriter()).decode(lineReader, source); + this.dictionary = new SAMSequenceDictionaryCodec(NullWriter.INSTANCE).decode(lineReader, source); } catch (FileNotFoundException e) { throw new GATKException("cannot read dictionary for str-table-file in " + dir); } diff --git a/src/main/java/org/broadinstitute/hellbender/utils/haplotype/Event.java b/src/main/java/org/broadinstitute/hellbender/utils/haplotype/Event.java index 695fb2ab468..bda40375a1f 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/haplotype/Event.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/haplotype/Event.java @@ -4,7 +4,7 @@ import htsjdk.variant.variantcontext.Allele; import htsjdk.variant.variantcontext.VariantContext; import htsjdk.variant.variantcontext.VariantContextBuilder; -import org.apache.commons.lang.builder.HashCodeBuilder; +import org.apache.commons.lang3.builder.HashCodeBuilder; import org.broadinstitute.hellbender.utils.Utils; import picard.sam.util.Pair; diff --git a/src/main/java/org/broadinstitute/hellbender/utils/pairhmm/DragstrReadSTRAnalyzer.java b/src/main/java/org/broadinstitute/hellbender/utils/pairhmm/DragstrReadSTRAnalyzer.java index 6c71ff0e34b..744547d43ec 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/pairhmm/DragstrReadSTRAnalyzer.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/pairhmm/DragstrReadSTRAnalyzer.java @@ -1,7 +1,7 @@ package org.broadinstitute.hellbender.utils.pairhmm; import com.google.common.annotations.VisibleForTesting; -import org.apache.commons.lang.ArrayUtils; +import org.apache.commons.lang3.ArrayUtils; import org.broadinstitute.hellbender.utils.Utils; import org.broadinstitute.hellbender.utils.param.ParamUtils; import org.broadinstitute.hellbender.utils.read.GATKRead; diff --git a/src/main/java/org/broadinstitute/hellbender/utils/param/ParamUtils.java b/src/main/java/org/broadinstitute/hellbender/utils/param/ParamUtils.java index fb71fef58b5..6d101cdac38 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/param/ParamUtils.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/param/ParamUtils.java @@ -1,7 +1,6 @@ package org.broadinstitute.hellbender.utils.param; -import org.apache.commons.lang.math.DoubleRange; -import org.apache.commons.lang.math.IntRange; +import org.apache.commons.lang3.Range; import org.apache.commons.math3.exception.NotFiniteNumberException; import org.apache.commons.math3.util.MathUtils; import org.broadinstitute.hellbender.exceptions.GATKException; @@ -269,10 +268,10 @@ public static double[] readValuesFromFile(final File inputFile) { * @return the input value. * @throws IllegalArgumentException if the value provided is in-valid. */ - public static double inRange(final DoubleRange validRange, final double value, final String definition) { + public static double inRange(final Range validRange, final double value, final String definition) { Utils.nonNull(validRange); - Utils.validateArg(validRange.containsDouble(value), String.format("invalid value for %s: %g is not in [%g, %g]", - definition, value, validRange.getMinimumDouble(), validRange.getMaximumDouble())); + Utils.validateArg(validRange.contains(value), String.format("invalid value for %s: %g is not in [%g, %g]", + definition, value, validRange.getMinimum(), validRange.getMaximum())); return value; } @@ -288,12 +287,12 @@ public static double inRange(final DoubleRange validRange, final double value, f * @return the input value. * @throws IllegalArgumentException if the value provided is in-valid. */ - public static int inRange(final IntRange validRange, final int value, final String definition) { + public static int inRange(final Range validRange, final int value, final String definition) { Utils.nonNull(validRange); - if (!validRange.containsInteger(value)) { + if (!validRange.contains(value)) { final String prefix = definition == null ? "invalid value" : "invalid value for " + definition; throw new IllegalArgumentException(String.format("%s: %d is not in [%d, %d]", - prefix, value, validRange.getMinimumInteger(), validRange.getMaximumInteger())); + prefix, value, validRange.getMinimum(), validRange.getMaximum())); } return value; } diff --git a/src/main/java/org/broadinstitute/hellbender/utils/read/FlowBasedRead.java b/src/main/java/org/broadinstitute/hellbender/utils/read/FlowBasedRead.java index 273761b0318..6f10beaae96 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/read/FlowBasedRead.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/read/FlowBasedRead.java @@ -2,7 +2,7 @@ import htsjdk.samtools.*; import htsjdk.samtools.util.SequenceUtil; -import org.apache.commons.lang.ArrayUtils; +import org.apache.commons.lang3.ArrayUtils; import org.apache.logging.log4j.LogManager; import org.apache.logging.log4j.Logger; import org.broadinstitute.hellbender.exceptions.GATKException; diff --git a/src/main/java/org/broadinstitute/hellbender/utils/read/FlowBasedReadUtils.java b/src/main/java/org/broadinstitute/hellbender/utils/read/FlowBasedReadUtils.java index ad30b0aa0c7..961a4a31e5c 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/read/FlowBasedReadUtils.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/read/FlowBasedReadUtils.java @@ -3,7 +3,7 @@ import gov.nih.nlm.ncbi.ngs.NGS; import htsjdk.samtools.*; import htsjdk.samtools.util.SequenceUtil; -import org.apache.commons.lang.ArrayUtils; +import org.apache.commons.lang3.ArrayUtils; import org.broadinstitute.hellbender.cmdline.argumentcollections.MarkDuplicatesSparkArgumentCollection; import org.broadinstitute.hellbender.engine.ReferenceContext; import org.broadinstitute.hellbender.exceptions.GATKException; diff --git a/src/main/java/org/broadinstitute/hellbender/utils/read/SAMRecordToGATKReadAdapter.java b/src/main/java/org/broadinstitute/hellbender/utils/read/SAMRecordToGATKReadAdapter.java index 42bc7d892b0..e8f6d461009 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/read/SAMRecordToGATKReadAdapter.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/read/SAMRecordToGATKReadAdapter.java @@ -2,7 +2,7 @@ import htsjdk.samtools.*; import htsjdk.samtools.util.Locatable; -import org.apache.commons.lang.ArrayUtils; +import org.apache.commons.lang3.ArrayUtils; import org.broadinstitute.hellbender.exceptions.GATKException; import org.broadinstitute.hellbender.utils.Utils; diff --git a/src/main/java/org/broadinstitute/hellbender/utils/runtime/CapturedStreamOutput.java b/src/main/java/org/broadinstitute/hellbender/utils/runtime/CapturedStreamOutput.java index ecf39645a08..c2c565b8601 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/runtime/CapturedStreamOutput.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/runtime/CapturedStreamOutput.java @@ -49,7 +49,7 @@ public CapturedStreamOutput(OutputStreamSettings settings, InputStream processSt outputStream = new HardThresholdingOutputStream(bufferSize) { @Override protected OutputStream getStream() { - return bufferTruncated ? NullOutputStream.NULL_OUTPUT_STREAM : bufferStream; + return bufferTruncated ? NullOutputStream.INSTANCE : bufferStream; } @Override diff --git a/src/main/java/org/broadinstitute/hellbender/utils/runtime/ProcessSettings.java b/src/main/java/org/broadinstitute/hellbender/utils/runtime/ProcessSettings.java index 4036698326a..657631e047f 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/runtime/ProcessSettings.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/runtime/ProcessSettings.java @@ -1,7 +1,7 @@ package org.broadinstitute.hellbender.utils.runtime; -import org.apache.commons.lang.StringUtils; +import org.apache.commons.lang3.StringUtils; import org.broadinstitute.hellbender.utils.Utils; import java.io.File; diff --git a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/DataSourceUtilsUnitTest.java b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/DataSourceUtilsUnitTest.java index 943043724bf..f3425aad454 100644 --- a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/DataSourceUtilsUnitTest.java +++ b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/DataSourceUtilsUnitTest.java @@ -1,6 +1,6 @@ package org.broadinstitute.hellbender.tools.funcotator.dataSources; -import org.apache.commons.lang.RandomStringUtils; +import org.apache.commons.lang3.RandomStringUtils; import org.broadinstitute.hellbender.GATKBaseTest; import org.broadinstitute.hellbender.utils.io.IOUtils; import org.testng.Assert; diff --git a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/vcf/VcfFuncotationFactoryUnitTest.java b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/vcf/VcfFuncotationFactoryUnitTest.java index 5b6beb817c7..1ef7a7817b4 100644 --- a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/vcf/VcfFuncotationFactoryUnitTest.java +++ b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/vcf/VcfFuncotationFactoryUnitTest.java @@ -8,7 +8,7 @@ import htsjdk.variant.vcf.VCFFileReader; import htsjdk.variant.vcf.VCFHeader; import htsjdk.variant.vcf.VCFInfoHeaderLine; -import org.apache.commons.lang.RandomStringUtils; +import org.apache.commons.lang3.RandomStringUtils; import org.apache.commons.lang3.tuple.Pair; import org.apache.commons.lang3.tuple.Triple; import org.broadinstitute.hellbender.GATKBaseTest; diff --git a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/mafOutput/CustomMafFuncotationCreatorUnitTest.java b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/mafOutput/CustomMafFuncotationCreatorUnitTest.java index 62a83f86f0a..2b77b43ebb1 100644 --- a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/mafOutput/CustomMafFuncotationCreatorUnitTest.java +++ b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/mafOutput/CustomMafFuncotationCreatorUnitTest.java @@ -21,9 +21,9 @@ import org.broadinstitute.hellbender.tools.funcotator.metadata.FuncotationMetadataUtils; import org.broadinstitute.hellbender.tools.funcotator.metadata.TumorNormalPair; import org.broadinstitute.hellbender.utils.SimpleInterval; +import org.broadinstitute.hellbender.utils.Utils; import org.broadinstitute.hellbender.utils.io.IOUtils; import org.broadinstitute.hellbender.utils.test.FuncotatorTestUtils; -import org.codehaus.plexus.util.StringUtils; import org.testng.Assert; import org.testng.annotations.DataProvider; import org.testng.annotations.Test; @@ -183,7 +183,7 @@ public void testCreateDbSnpCustomFields(final VariantContext variant, final int final List funcotations = vcfFuncotationFactory.createFuncotations(variant, referenceContext, featureContext); Assert.assertTrue(funcotations.size() > 0); for (final Funcotation f : funcotations) { - Assert.assertEquals(StringUtils.split(f.getField(DBSNP_DS_NAME + "_VLD"), "|").length, vcfFuncotationSourceMap.get(DBSNP_DS_NAME).size()); + Assert.assertEquals(Utils.split(f.getField(DBSNP_DS_NAME + "_VLD"), "|").size(), vcfFuncotationSourceMap.get(DBSNP_DS_NAME).size()); } final List customDbSnpFuncotations = CustomMafFuncotationCreator.createCustomMafDbSnpFields(funcotations); diff --git a/src/test/java/org/broadinstitute/hellbender/tools/walkers/bqsr/ApplyBQSRIntegrationTest.java b/src/test/java/org/broadinstitute/hellbender/tools/walkers/bqsr/ApplyBQSRIntegrationTest.java index 9c5c878a886..696f10b07f5 100644 --- a/src/test/java/org/broadinstitute/hellbender/tools/walkers/bqsr/ApplyBQSRIntegrationTest.java +++ b/src/test/java/org/broadinstitute/hellbender/tools/walkers/bqsr/ApplyBQSRIntegrationTest.java @@ -5,7 +5,7 @@ import htsjdk.samtools.SamReaderFactory; import java.nio.file.FileSystem; import java.nio.file.Path; -import org.apache.commons.lang.StringUtils; +import org.apache.commons.lang3.StringUtils; import org.broadinstitute.barclay.argparser.CommandLineException; import org.broadinstitute.hellbender.CommandLineProgramTest; import org.broadinstitute.hellbender.cmdline.StandardArgumentDefinitions; diff --git a/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/FilterVariantTranchesIntegrationTest.java b/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/FilterVariantTranchesIntegrationTest.java index a7cea2ffef7..f0f76f11e6e 100644 --- a/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/FilterVariantTranchesIntegrationTest.java +++ b/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/FilterVariantTranchesIntegrationTest.java @@ -1,7 +1,7 @@ package org.broadinstitute.hellbender.tools.walkers.vqsr; import htsjdk.tribble.TribbleException; -import org.apache.commons.lang.StringUtils; +import org.apache.commons.lang3.StringUtils; import org.broadinstitute.hellbender.CommandLineProgramTest; import org.broadinstitute.hellbender.exceptions.UserException; import org.broadinstitute.hellbender.testutils.ArgumentsBuilder; diff --git a/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/VariantDataManagerUnitTest.java b/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/VariantDataManagerUnitTest.java index 1706b601783..9b77f056ce2 100644 --- a/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/VariantDataManagerUnitTest.java +++ b/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/VariantDataManagerUnitTest.java @@ -1,6 +1,6 @@ package org.broadinstitute.hellbender.tools.walkers.vqsr; -import org.apache.commons.lang.ArrayUtils; +import org.apache.commons.lang3.ArrayUtils; import org.broadinstitute.hellbender.GATKBaseTest; import org.testng.Assert; diff --git a/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/VariantRecalibratorIntegrationTest.java b/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/VariantRecalibratorIntegrationTest.java index d1ec6bd57e9..377133161f0 100644 --- a/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/VariantRecalibratorIntegrationTest.java +++ b/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/VariantRecalibratorIntegrationTest.java @@ -1,6 +1,6 @@ package org.broadinstitute.hellbender.tools.walkers.vqsr; -import org.apache.commons.lang.StringUtils; +import org.apache.commons.lang3.StringUtils; import org.broadinstitute.hellbender.CommandLineProgramTest; import org.broadinstitute.hellbender.cmdline.StandardArgumentDefinitions; import org.broadinstitute.hellbender.exceptions.UserException; diff --git a/src/test/java/org/broadinstitute/hellbender/utils/activityprofile/BandPassActivityProfileUnitTest.java b/src/test/java/org/broadinstitute/hellbender/utils/activityprofile/BandPassActivityProfileUnitTest.java index a73e6451284..738a0b3c92e 100644 --- a/src/test/java/org/broadinstitute/hellbender/utils/activityprofile/BandPassActivityProfileUnitTest.java +++ b/src/test/java/org/broadinstitute/hellbender/utils/activityprofile/BandPassActivityProfileUnitTest.java @@ -1,7 +1,7 @@ package org.broadinstitute.hellbender.utils.activityprofile; import htsjdk.samtools.SAMFileHeader; -import org.apache.commons.lang.ArrayUtils; +import org.apache.commons.lang3.ArrayUtils; import org.broadinstitute.hellbender.GATKBaseTest; import org.broadinstitute.hellbender.utils.GenomeLoc; import org.broadinstitute.hellbender.utils.GenomeLocParser; diff --git a/src/test/java/org/broadinstitute/hellbender/utils/pairhmm/PDPairHMMLikelihoodCalculationEngineUnitTest.java b/src/test/java/org/broadinstitute/hellbender/utils/pairhmm/PDPairHMMLikelihoodCalculationEngineUnitTest.java index f91e797a964..e208e37cb60 100644 --- a/src/test/java/org/broadinstitute/hellbender/utils/pairhmm/PDPairHMMLikelihoodCalculationEngineUnitTest.java +++ b/src/test/java/org/broadinstitute/hellbender/utils/pairhmm/PDPairHMMLikelihoodCalculationEngineUnitTest.java @@ -2,7 +2,7 @@ import htsjdk.samtools.SAMUtils; import htsjdk.samtools.util.BufferedLineReader; -import org.apache.commons.lang.ArrayUtils; +import org.apache.commons.lang3.ArrayUtils; import org.broadinstitute.gatk.nativebindings.pairhmm.PairHMMNativeArguments; import org.broadinstitute.hellbender.GATKBaseTest; import org.testng.Assert; diff --git a/src/test/java/org/broadinstitute/hellbender/utils/param/ParamUtilsUnitTest.java b/src/test/java/org/broadinstitute/hellbender/utils/param/ParamUtilsUnitTest.java index 7d6b3acbabd..18610386067 100644 --- a/src/test/java/org/broadinstitute/hellbender/utils/param/ParamUtilsUnitTest.java +++ b/src/test/java/org/broadinstitute/hellbender/utils/param/ParamUtilsUnitTest.java @@ -1,7 +1,6 @@ package org.broadinstitute.hellbender.utils.param; -import org.apache.commons.lang.math.DoubleRange; -import org.apache.commons.lang.math.IntRange; +import org.apache.commons.lang3.Range; import org.broadinstitute.hellbender.utils.io.IOUtils; import org.testng.Assert; import org.testng.annotations.Test; @@ -17,23 +16,23 @@ public class ParamUtilsUnitTest { public void testInRangeSuccess(){ Assert.assertTrue(4 == ParamUtils.inRange(4L, 3, 6, "Range calculation did not work properly"), "Did not return proper value"); Assert.assertTrue(4 == ParamUtils.inRange(4, 3, 6, "Range calculation did not work properly"), "Did not return proper value"); - Assert.assertTrue(4 == ParamUtils.inRange(new IntRange(3, 6), 4, "error")); + Assert.assertTrue(4 == ParamUtils.inRange(Range.of(3, 6), 4, "error")); Assert.assertTrue(4.1 == ParamUtils.inRange(4.1, 3, 6, "Range calculation did not work properly"), "Did not return proper value"); Assert.assertTrue(4.1 == ParamUtils.inRange(4.1, -3, 6, "Range calculation did not work properly"), "Did not return proper value"); - Assert.assertTrue(4.1 == ParamUtils.inRange(new DoubleRange(-3, 6), 4.1, "error")); + Assert.assertTrue(4.1 == ParamUtils.inRange(Range.of(-3.0, 6.0), 4.1, "error")); Assert.assertTrue(0 == ParamUtils.inRange(0L, -3, 6, "Range calculation did not work properly"), "Did not return proper value"); Assert.assertTrue(0 == ParamUtils.inRange(0, -3, 6, "Range calculation did not work properly"), "Did not return proper value"); - Assert.assertTrue(0 == ParamUtils.inRange(new IntRange(-3, 6), 0, "error")); + Assert.assertTrue(0 == ParamUtils.inRange(Range.of(-3, 6), 0, "error")); Assert.assertTrue(0.0 == ParamUtils.inRange(0.0, -3, 6, "Range calculation did not work properly"), "Did not return proper value"); - Assert.assertTrue(0.0 == ParamUtils.inRange(new DoubleRange(-3, 6), 0.0, "error")); + Assert.assertTrue(0.0 == ParamUtils.inRange(Range.of(-3.0, 6.0), 0.0, "error")); Assert.assertTrue(0 == ParamUtils.inRange(0L, -3, 6, "Range calculation did not work properly"), "Did not return proper value"); Assert.assertTrue(0 == ParamUtils.inRange(0, -3, 6, "Range calculation did not work properly"), "Did not return proper value"); - Assert.assertTrue(0 == ParamUtils.inRange(new IntRange(-3, 6), 0, "error")); + Assert.assertTrue(0 == ParamUtils.inRange(Range.of(-3, 6), 0, "error")); Assert.assertTrue(-1 == ParamUtils.inRange(-1L, -3, 6, "Range calculation did not work properly"), "Did not return proper value"); Assert.assertTrue(-1 == ParamUtils.inRange(-1, -3, 6, "Range calculation did not work properly"), "Did not return proper value"); - Assert.assertTrue(-1 == ParamUtils.inRange(new IntRange(-3, 6), -1, "error")); + Assert.assertTrue(-1 == ParamUtils.inRange(Range.of(-3, 6), -1, "error")); Assert.assertTrue(-1.5 == ParamUtils.inRange(-1.5, -3, 6, "Range calculation did not work properly"), "Did not return proper value"); - Assert.assertTrue(-1.5 == ParamUtils.inRange(new DoubleRange(-3, 6), -1.5, "error")); + Assert.assertTrue(-1.5 == ParamUtils.inRange(Range.of(-3.0, 6.0), -1.5, "error")); } @Test(expectedExceptions = IllegalArgumentException.class) @@ -48,12 +47,12 @@ public void testInRangeFailureAllPositiveInt(){ @Test(expectedExceptions = IllegalArgumentException.class) public void testInRangeFailureAllPositiveIntRange(){ - ParamUtils.inRange(new IntRange(7, 10), 4, "Range calculation did not work properly"); + ParamUtils.inRange(Range.of(7, 10), 4, "Range calculation did not work properly"); } @Test(expectedExceptions = IllegalArgumentException.class) public void testInRangeFailureAllPositiveDoubleRange(){ - ParamUtils.inRange(new DoubleRange(7, 10), 4, "Range calculation did not work properly"); + ParamUtils.inRange(Range.of(7.0, 10.0), 4, "Range calculation did not work properly"); } @Test(expectedExceptions = IllegalArgumentException.class) @@ -68,7 +67,7 @@ public void testInRangeFailureNaNHigh(){ @Test(expectedExceptions = IllegalArgumentException.class) public void testInRangeFailureNaNDoubleRange(){ - ParamUtils.inRange(new DoubleRange(7, 10), Double.NaN, "Range calculation did not work properly"); + ParamUtils.inRange(Range.of(7.0, 10.0), Double.NaN, "Range calculation did not work properly"); } @Test(expectedExceptions = IllegalArgumentException.class) diff --git a/src/test/java/org/broadinstitute/hellbender/utils/recalibration/covariates/ContextCovariateUnitTest.java b/src/test/java/org/broadinstitute/hellbender/utils/recalibration/covariates/ContextCovariateUnitTest.java index 50ece241053..536aaae2b83 100644 --- a/src/test/java/org/broadinstitute/hellbender/utils/recalibration/covariates/ContextCovariateUnitTest.java +++ b/src/test/java/org/broadinstitute/hellbender/utils/recalibration/covariates/ContextCovariateUnitTest.java @@ -1,7 +1,7 @@ package org.broadinstitute.hellbender.utils.recalibration.covariates; import htsjdk.samtools.SAMFileHeader; -import org.apache.commons.lang.StringUtils; +import org.apache.commons.lang3.StringUtils; import org.broadinstitute.hellbender.GATKBaseTest; import org.broadinstitute.hellbender.utils.BaseUtils; import org.broadinstitute.hellbender.utils.Utils; From 3b8b5bf7928a97c31585b828cc25010555eeb4a9 Mon Sep 17 00:00:00 2001 From: Louis Bergelson Date: Fri, 8 Dec 2023 19:36:23 -0500 Subject: [PATCH 13/64] Update http-nio and wire its new settings (#8611) * Update http-nio and wire it so it's configured at startup along with GCS setttings. --- build.gradle | 2 +- .../hellbender/utils/gcs/BucketUtils.java | 31 +++++++++++++++---- 2 files changed, 26 insertions(+), 7 deletions(-) diff --git a/build.gradle b/build.gradle index fa68235fae8..55bb2dca57c 100644 --- a/build.gradle +++ b/build.gradle @@ -336,7 +336,7 @@ dependencies { implementation 'org.broadinstitute:gatk-bwamem-jni:1.0.4' implementation 'org.broadinstitute:gatk-fermilite-jni:1.2.0' - implementation 'org.broadinstitute:http-nio:0.1.0-rc1' + implementation 'org.broadinstitute:http-nio:1.0.0' // Required for COSMIC Funcotator data source: implementation 'org.xerial:sqlite-jdbc:3.44.1.0' diff --git a/src/main/java/org/broadinstitute/hellbender/utils/gcs/BucketUtils.java b/src/main/java/org/broadinstitute/hellbender/utils/gcs/BucketUtils.java index 43f4ab688fd..9eeaffb6223 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/gcs/BucketUtils.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/gcs/BucketUtils.java @@ -25,18 +25,17 @@ import org.broadinstitute.hellbender.utils.Utils; import org.broadinstitute.hellbender.utils.io.IOUtils; import org.broadinstitute.http.nio.HttpFileSystemProvider; +import org.broadinstitute.http.nio.HttpFileSystemProviderSettings; import org.broadinstitute.http.nio.HttpsFileSystemProvider; import com.google.api.gax.retrying.RetrySettings; import com.google.auth.oauth2.GoogleCredentials; import com.google.cloud.http.HttpTransportOptions; +import org.broadinstitute.http.nio.RetryHandler; import org.threeten.bp.Duration; import java.io.*; import java.net.URL; import java.nio.channels.SeekableByteChannel; -import java.net.MalformedURLException; -import java.net.URISyntaxException; -import java.net.URL; import java.nio.file.Files; import java.util.Arrays; import java.util.UUID; @@ -55,6 +54,7 @@ public final class BucketUtils { // slashes omitted since hdfs paths seem to only have 1 slash which would be weirder to include than no slashes public static final String FILE_PREFIX = "file:"; + public static final int MAX_TIMEOUT = 120000; private BucketUtils(){} //private so that no one will instantiate this class @@ -387,7 +387,7 @@ public static String getPathWithoutBucket(String path) { * Sets max_reopens, requester_pays, and generous timeouts as the global default. * These will apply even to library code that creates its own paths to access with NIO. * - * @param maxReopens If the GCS bucket channel errors out, how many times it will attempt to + * @param maxReopens If the channel errors out, how many times it will attempt to * re-initiate the connection. * @param requesterProject Project to bill when accessing "requester pays" buckets. If unset, * these buckets cannot be accessed. @@ -395,6 +395,25 @@ public static String getPathWithoutBucket(String path) { public static void setGlobalNIODefaultOptions(int maxReopens, String requesterProject) { CloudStorageFileSystemProvider.setDefaultCloudStorageConfiguration(getCloudStorageConfiguration(maxReopens, requesterProject)); CloudStorageFileSystemProvider.setStorageOptions(setGenerousTimeouts(StorageOptions.newBuilder()).build()); + setGlobalHttpNioDefaultOptions(maxReopens); + } + + /** + * Set the options for http-nio to have generous timeouts and defaults + */ + public static void setGlobalHttpNioDefaultOptions(final int maxRetries) { + final HttpFileSystemProviderSettings.RetrySettings retrySettings = new HttpFileSystemProviderSettings.RetrySettings( + maxRetries, + RetryHandler.DEFAULT_RETRYABLE_HTTP_CODES, + RetryHandler.DEFAULT_RETRYABLE_EXCEPTIONS, + RetryHandler.DEFALT_RETRYABLE_MESSAGES, + e -> false); + final HttpFileSystemProviderSettings settings = new HttpFileSystemProviderSettings( + java.time.Duration.ofMillis(MAX_TIMEOUT), + HttpFileSystemProviderSettings.DEFAULT_SETTINGS.redirect(), + retrySettings); + + HttpFileSystemProvider.setSettings(settings); } /** @@ -437,8 +456,8 @@ public static CloudStorageConfiguration getCloudStorageConfiguration(int maxReop private static StorageOptions.Builder setGenerousTimeouts(StorageOptions.Builder builder) { return builder .setTransportOptions(HttpTransportOptions.newBuilder() - .setConnectTimeout(120000) - .setReadTimeout(120000) + .setConnectTimeout(MAX_TIMEOUT) + .setReadTimeout(MAX_TIMEOUT) .build()) .setRetrySettings(RetrySettings.newBuilder() .setMaxAttempts(15) From 5839cbdfc113ae74a23916f78660dfa58fb4c24c Mon Sep 17 00:00:00 2001 From: Chris Norman Date: Fri, 8 Dec 2023 20:03:39 -0500 Subject: [PATCH 14/64] PrintFileDiagnostics for cram, crai and bai. (#8577) * New experimental tool to print out human readable file diagnostics for cram/crai/bai files. --- .../tools/PrintFileDiagnostics.java | 79 ++ .../tools/filediagnostics/BAIAnalyzer.java | 31 + .../tools/filediagnostics/CRAIAnalyzer.java | 59 + .../tools/filediagnostics/CRAMAnalyzer.java | 308 +++++ .../tools/filediagnostics/HTSAnalyzer.java | 46 + .../filediagnostics/HTSAnalyzerFactory.java | 25 + .../PrintFileDiagnosticsIntegrationTest.java | 52 + .../CEUTrio.HiSeq.WGS.b37.NA12878.20.21.txt | 1187 +++++++++++++++++ .../cram_with_crai_index.cram.crai.txt | 8 + .../example_pfFail_reads.bam.bai.txt | 66 + 10 files changed, 1861 insertions(+) create mode 100644 src/main/java/org/broadinstitute/hellbender/tools/PrintFileDiagnostics.java create mode 100644 src/main/java/org/broadinstitute/hellbender/tools/filediagnostics/BAIAnalyzer.java create mode 100644 src/main/java/org/broadinstitute/hellbender/tools/filediagnostics/CRAIAnalyzer.java create mode 100644 src/main/java/org/broadinstitute/hellbender/tools/filediagnostics/CRAMAnalyzer.java create mode 100644 src/main/java/org/broadinstitute/hellbender/tools/filediagnostics/HTSAnalyzer.java create mode 100644 src/main/java/org/broadinstitute/hellbender/tools/filediagnostics/HTSAnalyzerFactory.java create mode 100644 src/test/java/org/broadinstitute/hellbender/PrintFileDiagnosticsIntegrationTest.java create mode 100644 src/test/resources/filediagnostics/CEUTrio.HiSeq.WGS.b37.NA12878.20.21.txt create mode 100644 src/test/resources/filediagnostics/cram_with_crai_index.cram.crai.txt create mode 100644 src/test/resources/filediagnostics/example_pfFail_reads.bam.bai.txt diff --git a/src/main/java/org/broadinstitute/hellbender/tools/PrintFileDiagnostics.java b/src/main/java/org/broadinstitute/hellbender/tools/PrintFileDiagnostics.java new file mode 100644 index 00000000000..76a0410c777 --- /dev/null +++ b/src/main/java/org/broadinstitute/hellbender/tools/PrintFileDiagnostics.java @@ -0,0 +1,79 @@ +package org.broadinstitute.hellbender.tools; + +import org.broadinstitute.barclay.argparser.*; +import org.broadinstitute.hellbender.cmdline.CommandLineProgram; +import org.broadinstitute.hellbender.cmdline.StandardArgumentDefinitions; +import org.broadinstitute.hellbender.engine.GATKPath; +import org.broadinstitute.hellbender.tools.filediagnostics.HTSAnalyzer; +import org.broadinstitute.hellbender.tools.filediagnostics.HTSAnalyzerFactory; +import picard.cmdline.programgroups.OtherProgramGroup; + +import java.io.File; + +/** + * A diagnostic tool that prints meta information about a GATK input file. + * + * Works on files ending in .cram, .crai, and .bai. + * + * Sample Usage: + * + * gatk PrintFileDiagnostics \ + * -I input.cram \ + * -count-limit 10 + */ +@ExperimentalFeature +@WorkflowProperties +@CommandLineProgramProperties( + summary = "Print diagnostic information about a genomics file to stdout", + oneLineSummary = "Print diagnostic information about a genomics file to stdout", + programGroup = OtherProgramGroup.class +) +public class PrintFileDiagnostics extends CommandLineProgram { + + @Argument(fullName = StandardArgumentDefinitions.INPUT_LONG_NAME, + shortName = StandardArgumentDefinitions.INPUT_SHORT_NAME, + doc = "Input path for diagnostics", + optional = false, + common = true) + @WorkflowInput + public GATKPath inputPath; + + @Argument(fullName = StandardArgumentDefinitions.OUTPUT_LONG_NAME, + shortName = StandardArgumentDefinitions.OUTPUT_SHORT_NAME, + doc = "Outut file for diagnostics (must be a local file)", + optional = false, + common = true) + @WorkflowInput + public File outputFile; + + @Argument(shortName="count-limit", + fullName="count-limit", + doc="Limit on how much output to emit (.cram only)") + private long countLimit = 1000; + + private HTSAnalyzer htsAnalyzer; + + @Override + protected void onStartup() { + super.onStartup(); + htsAnalyzer = HTSAnalyzerFactory.getFileAnalyzer(inputPath, outputFile, countLimit); + } + + @Override + protected Object doWork() { + htsAnalyzer.analyze(); + return 0; + } + + @Override + protected void onShutdown() { + if ( htsAnalyzer != null ) { + try { + htsAnalyzer.close(); + } catch (Exception e) { + throw new RuntimeException(e); + } + } + } + +} diff --git a/src/main/java/org/broadinstitute/hellbender/tools/filediagnostics/BAIAnalyzer.java b/src/main/java/org/broadinstitute/hellbender/tools/filediagnostics/BAIAnalyzer.java new file mode 100644 index 00000000000..1de153092ae --- /dev/null +++ b/src/main/java/org/broadinstitute/hellbender/tools/filediagnostics/BAIAnalyzer.java @@ -0,0 +1,31 @@ +package org.broadinstitute.hellbender.tools.filediagnostics; + +import htsjdk.samtools.BAMIndexer; +import org.broadinstitute.hellbender.engine.GATKPath; + +import java.io.File; +import java.io.IOException; + +/** + * Analyzer for BAI files. + */ +public class BAIAnalyzer extends HTSAnalyzer { + + public BAIAnalyzer(final GATKPath inputPath, final File outputFile) { + super(inputPath, outputFile); + } + + /** + * Run the analyzer for the file. + */ + protected void doAnalysis() { + System.out.println(String.format("\nOutput written to %s\n", outputFile)); + BAMIndexer.createAndWriteIndex(inputPath.toPath().toFile(), outputFile, true); + } + + @Override + public void close() throws IOException { + } + +} + diff --git a/src/main/java/org/broadinstitute/hellbender/tools/filediagnostics/CRAIAnalyzer.java b/src/main/java/org/broadinstitute/hellbender/tools/filediagnostics/CRAIAnalyzer.java new file mode 100644 index 00000000000..dcbe8109938 --- /dev/null +++ b/src/main/java/org/broadinstitute/hellbender/tools/filediagnostics/CRAIAnalyzer.java @@ -0,0 +1,59 @@ +package org.broadinstitute.hellbender.tools.filediagnostics; + +import htsjdk.samtools.CRAMCRAIIndexer; +import htsjdk.samtools.cram.CRAIIndex; +import htsjdk.samtools.util.RuntimeIOException; +import org.broadinstitute.hellbender.engine.GATKPath; + +import java.io.File; +import java.io.FileOutputStream; +import java.io.IOException; +import java.io.InputStream; + +/** + * Analyzer for CRAM (.crai) index files. + */ +public class CRAIAnalyzer extends HTSAnalyzer { + + final FileOutputStream fos; + + public CRAIAnalyzer(final GATKPath inputPath, final File outputFile) { + super(inputPath, outputFile); + try { + fos = new FileOutputStream(outputFile); + } catch (final IOException e) { + throw new RuntimeIOException(e); + } + } + + protected void emitln(final String s) { + try { + fos.write(s.getBytes()); + fos.write('\n'); + } catch (IOException e) { + throw new RuntimeException(e); + } + } + + /** + * Run the analyzer for the file. + */ + protected void doAnalysis() { + try (final InputStream is = inputPath.getInputStream()) { + final CRAIIndex craiIndex = CRAMCRAIIndexer.readIndex(is); + emitln("\nSeqId AlignmentStart AlignmentSpan ContainerOffset SliceOffset SliceSize\n"); + craiIndex.getCRAIEntries().stream().forEach(e -> emitln(e.toString())); + } catch (IOException e) { + throw new RuntimeException(e); + } + } + + @Override + public void close() throws IOException { + if (fos != null) { + fos.close(); + } + } + +} + diff --git a/src/main/java/org/broadinstitute/hellbender/tools/filediagnostics/CRAMAnalyzer.java b/src/main/java/org/broadinstitute/hellbender/tools/filediagnostics/CRAMAnalyzer.java new file mode 100644 index 00000000000..76933277e99 --- /dev/null +++ b/src/main/java/org/broadinstitute/hellbender/tools/filediagnostics/CRAMAnalyzer.java @@ -0,0 +1,308 @@ +package org.broadinstitute.hellbender.tools.filediagnostics; + +import htsjdk.samtools.SAMFileHeader; +import htsjdk.samtools.SAMSequenceDictionary; +import htsjdk.samtools.cram.build.CramIO; +import htsjdk.samtools.cram.encoding.CRAMEncoding; +import htsjdk.samtools.cram.encoding.EncodingFactory; +import htsjdk.samtools.cram.io.ITF8; +import htsjdk.samtools.cram.structure.*; +import htsjdk.samtools.seekablestream.SeekablePathStream; +import htsjdk.samtools.util.RuntimeIOException; +import org.broadinstitute.hellbender.engine.GATKPath; + +import java.io.File; +import java.io.FileOutputStream; +import java.io.IOException; +import java.io.InputStream; +import java.nio.ByteBuffer; +import java.nio.ByteOrder; +import java.util.Base64; +import java.util.HashMap; +import java.util.LinkedHashMap; +import java.util.Map; + +/** + * Analyzer for CRAM files. Displays metadata for each CRAM container, + * slice, and block. + * + * Note: the analyzer does not require a reference for the since it only + * enumerates metadata and doesn't attempt to dereference the reads. + */ +public class CRAMAnalyzer extends HTSAnalyzer { + + final Map externalDataSeriesDataSizes = new LinkedHashMap<>(); + final Map externalTagDataSizes = new LinkedHashMap<>(); + long coreBlocksDataSize = 0L; + long recordCount = 0; + final long countLimit; + final FileOutputStream fos; + + public CRAMAnalyzer(final GATKPath inputPathName, final File outputFile, final long countLimit) { + super(inputPathName, outputFile); + this.countLimit = countLimit; + try { + fos = new FileOutputStream(outputFile); + } catch (final IOException e) { + throw new RuntimeIOException(e); + } + } + + @Override + public void close() throws IOException { + if (fos != null) { + fos.close(); + } + } + + protected void emitln(final String s) { + try { + fos.write(s.getBytes()); + fos.write('\n'); + } catch (IOException e) { + throw new RuntimeException(e); + } + } + + /** + * Run the analyzer for the file. + */ + protected void doAnalysis() { + int containerCount = 0; + try (final SeekablePathStream seekableStream = new SeekablePathStream(this.inputPath.toPath())) { + final CramHeader cramHeader = analyzeCRAMHeader(seekableStream); + boolean isEOF = false; + while (!isEOF && containerCount < countLimit) { + long containerOffset = seekableStream.position(); + final Container container = new Container( + cramHeader.getCRAMVersion(), + seekableStream, + containerOffset); + isEOF = analyzeContainer(container, ++containerCount) ; + } + } + catch (IOException e) { + throw new RuntimeIOException(e); + } + + emitln("\nTotal Record Count: " + recordCount); + emitDataDistribution(); + } + + /** + * Display metadata for a CRAM file header. + * + */ + public CramHeader analyzeCRAMHeader(InputStream is) { + final CramHeader cramHeader = CramIO.readCramHeader(is); + emitln("\nCRAM File: " + inputPath); + emitln("CRAM Version: " + cramHeader.getCRAMVersion().toString()); + emitln("CRAM ID Contents: " + String.format("%s", Base64.getEncoder().encodeToString(cramHeader.getId()))); + + final SAMFileHeader samHeader = Container.readSAMFileHeaderContainer(cramHeader.getCRAMVersion(), is, inputPath.getRawInputString()); + emitln("\n" + samHeader.toString()); + final SAMSequenceDictionary dict = samHeader.getSequenceDictionary(); + emitln(dict.toString()); + dict.getSequences().forEach(e -> emitln(e.toString())); + return cramHeader; + } + + /** + * Display metadata for a CRAM file container. + * return true if container is EOF container + */ + public boolean analyzeContainer(Container container, int containerCount) { + final ContainerHeader containerHeader = container.getContainerHeader(); + emitln(String.format( + "\n***Container #:%d %s byteOffset=%d", + containerCount, containerHeader.toString(), container.getContainerByteOffset())); + if (container.isEOF()) { + return true; + } + // contentID to DataSeries (excludes tags ?) + final Map dataSeriesByContentID = analyzeCompressionHeader(container.getCompressionHeader()); + int sliceCount = 0; + for (final Slice slice : container.getSlices()) { + analyzeSlice(slice, ++sliceCount, dataSeriesByContentID); + } + return false; + } + + public Map analyzeCompressionHeader(final CompressionHeader compressionHeader) { + //preservation map, data series encoding map, and tag encoding map + analyzePreservationMap(compressionHeader); + final Map dataSeriesByContentID = analyzeDataSeriesEncodingMap(compressionHeader); + analyzeTagEncodingMap(compressionHeader); + return dataSeriesByContentID; + } + + public void analyzePreservationMap(final CompressionHeader compressionHeader) { + emitln(String.format( + "Requires reference (%b); Preserved read names (%b); APDelta (%b)", + compressionHeader.isReferenceRequired(), + compressionHeader.isPreserveReadNames(), + compressionHeader.isAPDelta())); + } + + public Map analyzeDataSeriesEncodingMap(final CompressionHeader compressionHeader) { + // Since each container can in theory use a different set of ids for the data series in that + // container, we need to reconstruct the mapping for each container, and return it so that as + // we process Slice blocks and track data, we can calculate the data series to which we should + // accrue that block's data + final Map dataSeriesByContentID = new LinkedHashMap<>(); + + emitln("\nData Series Encodings:\n"); + final CompressionHeaderEncodingMap encodingMap = compressionHeader.getEncodingMap(); + for (final DataSeries dataSeries: DataSeries.values()) { + final EncodingDescriptor encodingDescriptor = encodingMap.getEncodingDescriptorForDataSeries(dataSeries); + if (encodingDescriptor == null) { + emitln(String.format("%-50s not present", + String.format("DataSeries (%s/%s)", + dataSeries.getCanonicalName(), + dataSeries.name()))); + } else { + // the encoding map has an encoding descriptor for this data series; determine if its external + // and if so, update the contentID to data series map so we can track how much data is used for + // the blocks for this data series + final Integer externalContentID = contentIDFromExternalDescriptor(dataSeries.getType(), encodingDescriptor); + if (externalContentID != null) { + dataSeriesByContentID.put(externalContentID, dataSeries); + } + emitln(String.format("%-50s %s", + String.format("DataSeries (%s/%s)", + dataSeries.getCanonicalName(), + dataSeries.name()), + encodingDescriptorAsString( + dataSeries.getType(), + encodingDescriptor))); + } + } + return dataSeriesByContentID; + } + + public void analyzeTagEncodingMap(final CompressionHeader compressionHeader) { + emitln("\nTag Encodings:"); + for (final Map.Entry entry : compressionHeader.getTagEncodingMap().entrySet()) { + final Integer contentID = entry.getKey(); // is this content ID ? + final EncodingDescriptor ep = entry.getValue(); + emitln(String.format("%-50s %s", + String.format("Content ID/Tag (%s/%s)", + contentID, + decomposeTagNameAndType(contentID)), + encodingDescriptorAsString(DataSeriesType.BYTE_ARRAY, ep))); + } + } + + /** + * Display metadata for a CRAM container slice. + * + */ + public void analyzeSlice(final Slice slice, final int sliceCount, final Map dataSeriesByContentID) { + emitln(String.format("\n******Slice #: %d %s", + sliceCount, + slice.toString())); + emitln(String.format("%-50s %s", + "Header block ", + slice.getSliceHeaderBlock())); + emitln(String.format("%-50s %s", + "Core block ", + slice.getSliceBlocks().getCoreBlock())); + + if (slice.getEmbeddedReferenceContentID() != Slice.EMBEDDED_REFERENCE_ABSENT_CONTENT_ID) { + emitln(String.format("Embedded reference block ID %d", slice.getEmbeddedReferenceContentID())); + } + + slice.getSliceBlocks().getExternalContentIDs().forEach((id) -> { + final String blockID = dataSeriesByContentID.get(id) == null ? + Integer.toString(id) : // not a fixed data series (i.e., tag block) + dataSeriesByContentID.get(id).getCanonicalName(); + emitln(String.format("%-50s %s", + String.format("External Block (%s):", blockID), + slice.getSliceBlocks().getExternalBlock(id).toString())); + }); + + updateDataDistribution(slice, dataSeriesByContentID); + recordCount += slice.getNumberOfRecords(); + } + + final void updateDataDistribution(final Slice slice, final Map dataSeriesByContentID) { + final SliceBlocks sliceBlocks = slice.getSliceBlocks(); + + coreBlocksDataSize += sliceBlocks.getCoreBlock().getCompressedContentSize(); + final Map tagContentIDs = slice.getCompressionHeader().getTagEncodingMap(); + for (final Integer contentID : sliceBlocks.getExternalContentIDs()) { + //if (tagContentIDs.containsKey(contentID)) { + final DataSeries ds = dataSeriesByContentID.get(contentID); + if (ds == null) { + // accrue to tag data + externalTagDataSizes.merge( + contentID, + Long.valueOf(slice.getSliceBlocks().getExternalBlock(contentID).getCompressedContentSize()), + (oldValue, increment) -> oldValue + increment); + } else { + // accrue to fixed DataSeries ID + externalDataSeriesDataSizes.merge( + ds, + Long.valueOf(sliceBlocks.getExternalBlock(contentID).getCompressedContentSize()), + (oldValue, increment) -> oldValue + increment); + } + } + } + + public void emitDataDistribution() { + emitln("\nCore Block(s) Total: " + String.format("%,d\n", coreBlocksDataSize)); + emitln("External Data Series Totals (external block resolution - all core data encodings accrue to the core block):\n"); + for (final DataSeries ds : externalDataSeriesDataSizes.keySet()) { + emitln(String.format("%s: %,d", ds, externalDataSeriesDataSizes.get(ds))); + } + + emitln("\nTag Series Distribution:\n"); + for (final Map.Entry externalEntry : externalTagDataSizes.entrySet()) { + final Integer contentID = externalEntry.getKey(); + final String tagName = String.format("%d (%s)", contentID, decomposeTagNameAndType(externalEntry.getKey())); + emitln(String.format("%s: %,d", tagName, externalEntry.getValue())); + } + } + + private String encodingDescriptorAsString(final DataSeriesType dsType, final EncodingDescriptor descriptor) { + final String encodingIDString = EncodingID.values()[descriptor.getEncodingID().getId()].toString(); + final CRAMEncoding encoding = EncodingFactory.createCRAMEncoding( + dsType, descriptor.getEncodingID(), descriptor.getEncodingParameters()); + return String.format("%s (%s)", encodingIDString, encoding.toString()); + } + + private Integer contentIDFromExternalDescriptor(final DataSeriesType dsType, final EncodingDescriptor descriptor) { + final CRAMEncoding encoding = EncodingFactory.createCRAMEncoding( + dsType, descriptor.getEncodingID(), descriptor.getEncodingParameters()); + switch (descriptor.getEncodingID()) { + case EXTERNAL: + return ITF8.readUnsignedITF8(encoding.toSerializedEncodingParams()); + + case BYTE_ARRAY_STOP: + final ByteBuffer buf = ByteBuffer.wrap(encoding.toSerializedEncodingParams()); + buf.order(ByteOrder.LITTLE_ENDIAN); + final byte stopByte = buf.get(); // discard it + return ITF8.readUnsignedITF8(buf); + + // Everything else is either not external, or is hybrid (BYTE_ARRAY_LEN), so we can't + // track the data for these at the block level since the data foes either partially or + // fully into the core block + case BYTE_ARRAY_LEN: + case NULL: + case GOLOMB: + case HUFFMAN: + case BETA: + case SUBEXPONENTIAL: + case GOLOMB_RICE: + case GAMMA: + default: + return null; + } + } + + private String decomposeTagNameAndType(final int contentID) { + return ReadTag.intToNameType4Bytes(contentID); + } + +} + diff --git a/src/main/java/org/broadinstitute/hellbender/tools/filediagnostics/HTSAnalyzer.java b/src/main/java/org/broadinstitute/hellbender/tools/filediagnostics/HTSAnalyzer.java new file mode 100644 index 00000000000..8339dfaccc4 --- /dev/null +++ b/src/main/java/org/broadinstitute/hellbender/tools/filediagnostics/HTSAnalyzer.java @@ -0,0 +1,46 @@ +package org.broadinstitute.hellbender.tools.filediagnostics; + +import htsjdk.samtools.util.Log; +import org.broadinstitute.hellbender.engine.GATKPath; + +import java.io.Closeable; +import java.io.File; +import java.io.IOException; + +/** + * Base class for alignment file analyzers. + */ +public abstract class HTSAnalyzer implements Closeable { + + protected GATKPath inputPath; + protected File outputFile; + + public HTSAnalyzer(final GATKPath filePath, final File outputFile) { + this.inputPath = filePath; + this.outputFile = outputFile; + } + + /** + * Run the analyzer for the file specified by fileName. + */ + public void analyze() { + // set and then reset the global log level + Log.setGlobalLogLevel(Log.LogLevel.ERROR); + doAnalysis(); + emitln(""); + Log.setGlobalLogLevel(Log.LogLevel.DEBUG); + } + + /** + * Emit a string followed by a newline to the output destination. + * + * @param s + */ + protected void emitln(final String s) { + System.out.println(s); + } + + protected abstract void doAnalysis(); + + public abstract void close() throws IOException; +} diff --git a/src/main/java/org/broadinstitute/hellbender/tools/filediagnostics/HTSAnalyzerFactory.java b/src/main/java/org/broadinstitute/hellbender/tools/filediagnostics/HTSAnalyzerFactory.java new file mode 100644 index 00000000000..d58438a7b61 --- /dev/null +++ b/src/main/java/org/broadinstitute/hellbender/tools/filediagnostics/HTSAnalyzerFactory.java @@ -0,0 +1,25 @@ +package org.broadinstitute.hellbender.tools.filediagnostics; + +import htsjdk.samtools.util.FileExtensions; +import org.broadinstitute.hellbender.engine.GATKPath; + +import java.io.File; + +/** + * Class for creating an analyzer based on an alignment file type. + */ +public class HTSAnalyzerFactory { + + public static HTSAnalyzer getFileAnalyzer(final GATKPath inputPath, final File outputFile, final long countLimit) { + System.out.println(inputPath.getRawInputString()); + if (inputPath.isCram()) { + return new CRAMAnalyzer(inputPath, outputFile, countLimit); + } else if (inputPath.hasExtension(FileExtensions.CRAM_INDEX)) { + return new CRAIAnalyzer(inputPath, outputFile); + } else if (inputPath.hasExtension(FileExtensions.BAI_INDEX)) { + return new BAIAnalyzer(inputPath, outputFile); + } else { + throw new RuntimeException("Unsupported diagnostic file type: " + inputPath.getRawInputString()); + } + } +} diff --git a/src/test/java/org/broadinstitute/hellbender/PrintFileDiagnosticsIntegrationTest.java b/src/test/java/org/broadinstitute/hellbender/PrintFileDiagnosticsIntegrationTest.java new file mode 100644 index 00000000000..e03a36fe5c6 --- /dev/null +++ b/src/test/java/org/broadinstitute/hellbender/PrintFileDiagnosticsIntegrationTest.java @@ -0,0 +1,52 @@ +package org.broadinstitute.hellbender; + +import org.apache.commons.lang3.tuple.Pair; +import org.broadinstitute.hellbender.testutils.ArgumentsBuilder; +import org.broadinstitute.hellbender.testutils.IntegrationTestSpec; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +import java.io.File; +import java.io.IOException; +import java.util.List; + +public class PrintFileDiagnosticsIntegrationTest extends CommandLineProgramTest { + + @DataProvider(name = "fileDiagnosticsTestCases") + public Object[][] getFileDiagnosticsTestCases() { + return new Object[][]{ + { + "src/test/resources/large/CEUTrio.HiSeq.WGS.b37.NA12878.20.21.cram", + List.of(Pair.of("count-limit", "10")), + "src/test/resources/filediagnostics/CEUTrio.HiSeq.WGS.b37.NA12878.20.21.txt" + }, + { + "src/test/resources/org/broadinstitute/hellbender/metrics/analysis/MeanQualityByCycle/example_pfFail_reads.bam.bai", + null, + "src/test/resources/filediagnostics/example_pfFail_reads.bam.bai.txt" + }, + { + "src/test/resources/org/broadinstitute/hellbender/engine/cram_with_crai_index.cram.crai", + null, + "src/test/resources/filediagnostics/cram_with_crai_index.cram.crai.txt" + }, + }; + } + + @Test(dataProvider = "fileDiagnosticsTestCases") + public void testFileDiagnostics( + final String inputPath, + final List> extraArgs, + final String expectedOutputPath) throws IOException { + final File outFile = createTempFile("testFileDiagnostics", ".txt"); + ArgumentsBuilder argBuilder = new ArgumentsBuilder(); + argBuilder.addInput(inputPath); + argBuilder.addOutput(outFile); + if (extraArgs != null) { + extraArgs.forEach(argPair -> argBuilder.add(argPair.getKey(), argPair.getValue())); + } + runCommandLine(argBuilder.getArgsList()); + + IntegrationTestSpec.assertEqualTextFiles(outFile, new File(expectedOutputPath)); + } +} diff --git a/src/test/resources/filediagnostics/CEUTrio.HiSeq.WGS.b37.NA12878.20.21.txt b/src/test/resources/filediagnostics/CEUTrio.HiSeq.WGS.b37.NA12878.20.21.txt new file mode 100644 index 00000000000..4a64d41c5b8 --- /dev/null +++ b/src/test/resources/filediagnostics/CEUTrio.HiSeq.WGS.b37.NA12878.20.21.txt @@ -0,0 +1,1187 @@ + +CRAM File: src/test/resources/large/CEUTrio.HiSeq.WGS.b37.NA12878.20.21.cram +CRAM Version: 2.1 +CRAM ID Contents: L1VzZXJzL2FraWV6dW4vSWRlYVA= + +SAMFileHeader{VN=1.5, GO=none, SO=coordinate} +SAMSequenceDictionary:( sequences:2 length:111155415 md5:090fb1cdca0dabd61b568ab56e9f555f) +SAMSequenceRecord(name=20,length=63025520,dict_index=0,assembly=null,alternate_names=[]) +SAMSequenceRecord(name=21,length=48129895,dict_index=1,assembly=null,alternate_names=[]) + +***Container #:1 sequenceId=SINGLE_REFERENCE: 0, start=9999902, span=11055, nRecords=10000, nBlocks=52, nBases=1010000, globalCounter=0 byteOffset=5578 +Requires reference (true); Preserved read names (true); APDelta (true) + +Data Series Encodings: + +DataSeries (BF/BF_BitFlags) EXTERNAL (Content ID: 0) +DataSeries (CF/CF_CompressionBitFlags) EXTERNAL (Content ID: 21) +DataSeries (RI/RI_RefId) EXTERNAL (Content ID: 25) +DataSeries (RL/RL_ReadLength) EXTERNAL (Content ID: 9) +DataSeries (AP/AP_AlignmentPositionOffset) EXTERNAL (Content ID: 1) +DataSeries (RG/RG_ReadGroup) EXTERNAL (Content ID: 10) +DataSeries (RN/RN_ReadName) BYTE_ARRAY_STOP (Content ID: 12 StopByte: 9) +DataSeries (NF/NF_RecordsToNextFragment) EXTERNAL (Content ID: 8) +DataSeries (MF/MF_MateBitFlags) EXTERNAL (Content ID: 19) +DataSeries (NS/NS_NextFragmentReferenceSequenceID) EXTERNAL (Content ID: 20) +DataSeries (NP/NP_NextFragmentAlignmentStart) EXTERNAL (Content ID: 13) +DataSeries (TS/TS_InsertSize) EXTERNAL (Content ID: 14) +DataSeries (TL/TL_TagIdList) EXTERNAL (Content ID: 24) +DataSeries (TC/TC_TagCount) not present +DataSeries (TN/TN_TagNameAndType) not present +DataSeries (MQ/MQ_MappingQualityScore) EXTERNAL (Content ID: 11) +DataSeries (FN/FN_NumberOfReadFeatures) EXTERNAL (Content ID: 15) +DataSeries (FP/FP_FeaturePosition) EXTERNAL (Content ID: 2) +DataSeries (FC/FC_FeatureCode) EXTERNAL (Content ID: 3) +DataSeries (BB/BB_Bases) not present +DataSeries (QQ/QQ_scores) not present +DataSeries (BA/BA_Base) EXTERNAL (Content ID: 6) +DataSeries (QS/QS_QualityScore) EXTERNAL (Content ID: 4) +DataSeries (BS/BS_BaseSubstitutionCode) EXTERNAL (Content ID: 16) +DataSeries (IN/IN_Insertion) BYTE_ARRAY_STOP (Content ID: 17 StopByte: 9) +DataSeries (DL/DL_DeletionLength) EXTERNAL (Content ID: 5) +DataSeries (RS/RS_RefSkip) EXTERNAL (Content ID: 26) +DataSeries (SC/SC_SoftClip) BYTE_ARRAY_STOP (Content ID: 27 StopByte: 9) +DataSeries (PD/PD_padding) EXTERNAL (Content ID: 29) +DataSeries (HC/HC_HardClip) EXTERNAL (Content ID: 28) +DataSeries (TM/TM_TestMark) not present +DataSeries (TV/TV_TestMark) not present + +Tag Encodings: +Content ID/Tag (4279651/AM:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 4279651) +Content ID/Tag (4346202/BQ:Z) BYTE_ARRAY_LEN (LenEncoding: Symbols: 102 BitLengths 0 ByteEncoding: Content ID: 4346202) +Content ID/Tag (5063770/MD:Z) BYTE_ARRAY_STOP (Content ID: 5063770 StopByte: 9) +Content ID/Tag (5067107/MQ:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5067107) +Content ID/Tag (5131619/NM:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5131619) +Content ID/Tag (5194586/OC:Z) BYTE_ARRAY_STOP (Content ID: 5194586 StopByte: 9) +Content ID/Tag (5197929/OP:i) BYTE_ARRAY_LEN (LenEncoding: Symbols: 4 BitLengths 0 ByteEncoding: Content ID: 5197929) +Content ID/Tag (5198170/OQ:Z) BYTE_ARRAY_LEN (LenEncoding: Symbols: 102 BitLengths 0 ByteEncoding: Content ID: 5198170) +Content ID/Tag (5459299/SM:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5459299) +Content ID/Tag (5779523/X0:C) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5779523) +Content ID/Tag (5779555/X0:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5779555) +Content ID/Tag (5779571/X0:s) BYTE_ARRAY_LEN (LenEncoding: Symbols: 2 BitLengths 0 ByteEncoding: Content ID: 5779571) +Content ID/Tag (5779779/X1:C) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5779779) +Content ID/Tag (5779811/X1:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5779811) +Content ID/Tag (5779827/X1:s) BYTE_ARRAY_LEN (LenEncoding: Symbols: 2 BitLengths 0 ByteEncoding: Content ID: 5779827) +Content ID/Tag (5783898/XA:Z) BYTE_ARRAY_STOP (Content ID: 5783898 StopByte: 9) +Content ID/Tag (5784419/XC:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5784419) +Content ID/Tag (5785443/XG:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5785443) +Content ID/Tag (5786979/XM:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5786979) +Content ID/Tag (5787491/XO:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5787491) +Content ID/Tag (5788737/XT:A) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5788737) + +******Slice #: 1 slice: sequenceId=SINGLE_REFERENCE: 0, start=9999902, span=11055 globalRecordCounter=0, nRecords=10000, sliceHeaderOffset=2527, sizeOfBlocks=779196, landmark=0, mapped/unmapped/unplaced: 0/0/0, md5=66ed32010fc4bcf59382102e3b67525b +Header block method=RAW, type=MAPPED_SLICE, id=0, raw size=145, compressed size=145 +Core block method=RAW, type=CORE, id=0, raw size=0, compressed size=0 +External Block (BF): method=RANS, type=EXTERNAL, id=0, raw size=15738, compressed size=3767 +External Block (AP): method=RANS, type=EXTERNAL, id=1, raw size=10000, compressed size=2634 +External Block (FP): method=GZIP, type=EXTERNAL, id=2, raw size=9720, compressed size=7006 +External Block (FC): method=GZIP, type=EXTERNAL, id=3, raw size=9720, compressed size=1633 +External Block (QS): method=RANS, type=EXTERNAL, id=4, raw size=1010000, compressed size=354284 +External Block (DL): method=GZIP, type=EXTERNAL, id=5, raw size=253, compressed size=58 +External Block (BA): method=RANS, type=EXTERNAL, id=6, raw size=14129, compressed size=2416 +External Block (7): method=GZIP, type=EXTERNAL, id=7, raw size=0, compressed size=20 +External Block (NF): method=GZIP, type=EXTERNAL, id=8, raw size=132, compressed size=24 +External Block (RL): method=RANS, type=EXTERNAL, id=9, raw size=10000, compressed size=36 +External Block (RG): method=RANS, type=EXTERNAL, id=10, raw size=10000, compressed size=5461 +External Block (MQ): method=GZIP, type=EXTERNAL, id=11, raw size=9868, compressed size=1767 +External Block (RN): method=GZIP, type=EXTERNAL, id=12, raw size=327756, compressed size=63347 +External Block (NP): method=GZIP, type=EXTERNAL, id=13, raw size=38944, compressed size=19387 +External Block (TS): method=RANS, type=EXTERNAL, id=14, raw size=34036, compressed size=14866 +External Block (FN): method=GZIP, type=EXTERNAL, id=15, raw size=9868, compressed size=2495 +External Block (BS): method=GZIP, type=EXTERNAL, id=16, raw size=6695, compressed size=1330 +External Block (IN): method=GZIP, type=EXTERNAL, id=17, raw size=0, compressed size=20 +External Block (18): method=GZIP, type=EXTERNAL, id=18, raw size=0, compressed size=20 +External Block (MF): method=GZIP, type=EXTERNAL, id=19, raw size=9736, compressed size=1668 +External Block (NS): method=RANS, type=EXTERNAL, id=20, raw size=9736, compressed size=41 +External Block (CF): method=RANS, type=EXTERNAL, id=21, raw size=10000, compressed size=175 +External Block (TL): method=GZIP, type=EXTERNAL, id=24, raw size=10000, compressed size=2947 +External Block (RI): method=RANS, type=EXTERNAL, id=25, raw size=0, compressed size=0 +External Block (RS): method=GZIP, type=EXTERNAL, id=26, raw size=0, compressed size=20 +External Block (SC): method=GZIP, type=EXTERNAL, id=27, raw size=63688, compressed size=17007 +External Block (HC): method=GZIP, type=EXTERNAL, id=28, raw size=0, compressed size=20 +External Block (PD): method=GZIP, type=EXTERNAL, id=29, raw size=0, compressed size=20 +External Block (4279651): method=RANS, type=EXTERNAL, id=4279651, raw size=9868, compressed size=1478 +External Block (4346202): method=RANS, type=EXTERNAL, id=4346202, raw size=858942, compressed size=44520 +External Block (5063770): method=GZIP, type=EXTERNAL, id=5063770, raw size=62190, compressed size=16062 +External Block (5067107): method=RANS, type=EXTERNAL, id=5067107, raw size=9735, compressed size=1397 +External Block (5131619): method=RANS, type=EXTERNAL, id=5131619, raw size=9868, compressed size=1874 +External Block (5194586): method=GZIP, type=EXTERNAL, id=5194586, raw size=681, compressed size=189 +External Block (5197929): method=GZIP, type=EXTERNAL, id=5197929, raw size=168, compressed size=110 +External Block (5198170): method=RANS, type=EXTERNAL, id=5198170, raw size=1020000, compressed size=202723 +External Block (5459299): method=RANS, type=EXTERNAL, id=5459299, raw size=9868, compressed size=1168 +External Block (5779523): method=GZIP, type=EXTERNAL, id=5779523, raw size=1, compressed size=21 +External Block (5779555): method=GZIP, type=EXTERNAL, id=5779555, raw size=9472, compressed size=222 +External Block (5779571): method=GZIP, type=EXTERNAL, id=5779571, raw size=8, compressed size=28 +External Block (5779779): method=GZIP, type=EXTERNAL, id=5779779, raw size=5, compressed size=25 +External Block (5779811): method=GZIP, type=EXTERNAL, id=5779811, raw size=9452, compressed size=299 +External Block (5779827): method=GZIP, type=EXTERNAL, id=5779827, raw size=16, compressed size=36 +External Block (5783898): method=GZIP, type=EXTERNAL, id=5783898, raw size=10302, compressed size=2061 +External Block (5784419): method=RANS, type=EXTERNAL, id=5784419, raw size=1996, compressed size=1301 +External Block (5785443): method=GZIP, type=EXTERNAL, id=5785443, raw size=9868, compressed size=300 +External Block (5786979): method=RANS, type=EXTERNAL, id=5786979, raw size=9868, compressed size=1713 +External Block (5787491): method=RANS, type=EXTERNAL, id=5787491, raw size=9868, compressed size=248 +External Block (5788737): method=RANS, type=EXTERNAL, id=5788737, raw size=9868, compressed size=402 + +***Container #:2 sequenceId=SINGLE_REFERENCE: 0, start=10010859, span=11595, nRecords=10000, nBlocks=52, nBases=1010000, globalCounter=10000 byteOffset=787322 +Requires reference (true); Preserved read names (true); APDelta (true) + +Data Series Encodings: + +DataSeries (BF/BF_BitFlags) EXTERNAL (Content ID: 0) +DataSeries (CF/CF_CompressionBitFlags) EXTERNAL (Content ID: 21) +DataSeries (RI/RI_RefId) EXTERNAL (Content ID: 25) +DataSeries (RL/RL_ReadLength) EXTERNAL (Content ID: 9) +DataSeries (AP/AP_AlignmentPositionOffset) EXTERNAL (Content ID: 1) +DataSeries (RG/RG_ReadGroup) EXTERNAL (Content ID: 10) +DataSeries (RN/RN_ReadName) BYTE_ARRAY_STOP (Content ID: 12 StopByte: 9) +DataSeries (NF/NF_RecordsToNextFragment) EXTERNAL (Content ID: 8) +DataSeries (MF/MF_MateBitFlags) EXTERNAL (Content ID: 19) +DataSeries (NS/NS_NextFragmentReferenceSequenceID) EXTERNAL (Content ID: 20) +DataSeries (NP/NP_NextFragmentAlignmentStart) EXTERNAL (Content ID: 13) +DataSeries (TS/TS_InsertSize) EXTERNAL (Content ID: 14) +DataSeries (TL/TL_TagIdList) EXTERNAL (Content ID: 24) +DataSeries (TC/TC_TagCount) not present +DataSeries (TN/TN_TagNameAndType) not present +DataSeries (MQ/MQ_MappingQualityScore) EXTERNAL (Content ID: 11) +DataSeries (FN/FN_NumberOfReadFeatures) EXTERNAL (Content ID: 15) +DataSeries (FP/FP_FeaturePosition) EXTERNAL (Content ID: 2) +DataSeries (FC/FC_FeatureCode) EXTERNAL (Content ID: 3) +DataSeries (BB/BB_Bases) not present +DataSeries (QQ/QQ_scores) not present +DataSeries (BA/BA_Base) EXTERNAL (Content ID: 6) +DataSeries (QS/QS_QualityScore) EXTERNAL (Content ID: 4) +DataSeries (BS/BS_BaseSubstitutionCode) EXTERNAL (Content ID: 16) +DataSeries (IN/IN_Insertion) BYTE_ARRAY_STOP (Content ID: 17 StopByte: 9) +DataSeries (DL/DL_DeletionLength) EXTERNAL (Content ID: 5) +DataSeries (RS/RS_RefSkip) EXTERNAL (Content ID: 26) +DataSeries (SC/SC_SoftClip) BYTE_ARRAY_STOP (Content ID: 27 StopByte: 9) +DataSeries (PD/PD_padding) EXTERNAL (Content ID: 29) +DataSeries (HC/HC_HardClip) EXTERNAL (Content ID: 28) +DataSeries (TM/TM_TestMark) not present +DataSeries (TV/TV_TestMark) not present + +Tag Encodings: +Content ID/Tag (4279651/AM:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 4279651) +Content ID/Tag (4346202/BQ:Z) BYTE_ARRAY_LEN (LenEncoding: Symbols: 102 BitLengths 0 ByteEncoding: Content ID: 4346202) +Content ID/Tag (5063770/MD:Z) BYTE_ARRAY_STOP (Content ID: 5063770 StopByte: 9) +Content ID/Tag (5067107/MQ:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5067107) +Content ID/Tag (5131619/NM:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5131619) +Content ID/Tag (5194586/OC:Z) BYTE_ARRAY_STOP (Content ID: 5194586 StopByte: 9) +Content ID/Tag (5197929/OP:i) BYTE_ARRAY_LEN (LenEncoding: Symbols: 4 BitLengths 0 ByteEncoding: Content ID: 5197929) +Content ID/Tag (5198170/OQ:Z) BYTE_ARRAY_LEN (LenEncoding: Symbols: 102 BitLengths 0 ByteEncoding: Content ID: 5198170) +Content ID/Tag (5459299/SM:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5459299) +Content ID/Tag (5779523/X0:C) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5779523) +Content ID/Tag (5779555/X0:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5779555) +Content ID/Tag (5779571/X0:s) BYTE_ARRAY_LEN (LenEncoding: Symbols: 2 BitLengths 0 ByteEncoding: Content ID: 5779571) +Content ID/Tag (5779779/X1:C) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5779779) +Content ID/Tag (5779811/X1:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5779811) +Content ID/Tag (5779827/X1:s) BYTE_ARRAY_LEN (LenEncoding: Symbols: 2 BitLengths 0 ByteEncoding: Content ID: 5779827) +Content ID/Tag (5783898/XA:Z) BYTE_ARRAY_STOP (Content ID: 5783898 StopByte: 9) +Content ID/Tag (5784419/XC:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5784419) +Content ID/Tag (5785443/XG:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5785443) +Content ID/Tag (5786979/XM:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5786979) +Content ID/Tag (5787491/XO:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5787491) +Content ID/Tag (5788737/XT:A) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5788737) + +******Slice #: 1 slice: sequenceId=SINGLE_REFERENCE: 0, start=10010859, span=11595 globalRecordCounter=10000, nRecords=10000, sliceHeaderOffset=2130, sizeOfBlocks=774472, landmark=0, mapped/unmapped/unplaced: 0/0/0, md5=81fbf6a9d2418a3630500403b879d405 +Header block method=RAW, type=MAPPED_SLICE, id=0, raw size=146, compressed size=146 +Core block method=RAW, type=CORE, id=0, raw size=0, compressed size=0 +External Block (BF): method=RANS, type=EXTERNAL, id=0, raw size=15653, compressed size=3682 +External Block (AP): method=RANS, type=EXTERNAL, id=1, raw size=10000, compressed size=2695 +External Block (FP): method=GZIP, type=EXTERNAL, id=2, raw size=5581, compressed size=4173 +External Block (FC): method=GZIP, type=EXTERNAL, id=3, raw size=5581, compressed size=1079 +External Block (QS): method=RANS, type=EXTERNAL, id=4, raw size=1010000, compressed size=359147 +External Block (DL): method=GZIP, type=EXTERNAL, id=5, raw size=142, compressed size=36 +External Block (BA): method=RANS, type=EXTERNAL, id=6, raw size=12274, compressed size=1823 +External Block (7): method=GZIP, type=EXTERNAL, id=7, raw size=0, compressed size=20 +External Block (NF): method=GZIP, type=EXTERNAL, id=8, raw size=120, compressed size=24 +External Block (RL): method=RANS, type=EXTERNAL, id=9, raw size=10000, compressed size=36 +External Block (RG): method=RANS, type=EXTERNAL, id=10, raw size=10000, compressed size=5475 +External Block (MQ): method=GZIP, type=EXTERNAL, id=11, raw size=9880, compressed size=1443 +External Block (RN): method=GZIP, type=EXTERNAL, id=12, raw size=327845, compressed size=63910 +External Block (NP): method=GZIP, type=EXTERNAL, id=13, raw size=39040, compressed size=19684 +External Block (TS): method=RANS, type=EXTERNAL, id=14, raw size=34147, compressed size=14745 +External Block (FN): method=GZIP, type=EXTERNAL, id=15, raw size=9880, compressed size=2384 +External Block (BS): method=GZIP, type=EXTERNAL, id=16, raw size=3248, compressed size=895 +External Block (IN): method=GZIP, type=EXTERNAL, id=17, raw size=0, compressed size=20 +External Block (18): method=GZIP, type=EXTERNAL, id=18, raw size=0, compressed size=20 +External Block (MF): method=GZIP, type=EXTERNAL, id=19, raw size=9760, compressed size=1660 +External Block (NS): method=RANS, type=EXTERNAL, id=20, raw size=9760, compressed size=31 +External Block (CF): method=RANS, type=EXTERNAL, id=21, raw size=10000, compressed size=166 +External Block (TL): method=GZIP, type=EXTERNAL, id=24, raw size=10000, compressed size=2830 +External Block (RI): method=RANS, type=EXTERNAL, id=25, raw size=0, compressed size=0 +External Block (RS): method=GZIP, type=EXTERNAL, id=26, raw size=0, compressed size=20 +External Block (SC): method=GZIP, type=EXTERNAL, id=27, raw size=62609, compressed size=16876 +External Block (HC): method=GZIP, type=EXTERNAL, id=28, raw size=0, compressed size=20 +External Block (PD): method=GZIP, type=EXTERNAL, id=29, raw size=0, compressed size=20 +External Block (4279651): method=RANS, type=EXTERNAL, id=4279651, raw size=9880, compressed size=1177 +External Block (4346202): method=RANS, type=EXTERNAL, id=4346202, raw size=872814, compressed size=42144 +External Block (5063770): method=GZIP, type=EXTERNAL, id=5063770, raw size=54849, compressed size=11566 +External Block (5067107): method=RANS, type=EXTERNAL, id=5067107, raw size=9760, compressed size=1008 +External Block (5131619): method=RANS, type=EXTERNAL, id=5131619, raw size=9880, compressed size=1376 +External Block (5194586): method=GZIP, type=EXTERNAL, id=5194586, raw size=128, compressed size=61 +External Block (5197929): method=GZIP, type=EXTERNAL, id=5197929, raw size=32, compressed size=37 +External Block (5198170): method=RANS, type=EXTERNAL, id=5198170, raw size=1020000, compressed size=207267 +External Block (5459299): method=RANS, type=EXTERNAL, id=5459299, raw size=9880, compressed size=871 +External Block (5779523): method=GZIP, type=EXTERNAL, id=5779523, raw size=10, compressed size=31 +External Block (5779555): method=RANS, type=EXTERNAL, id=5779555, raw size=9652, compressed size=242 +External Block (5779571): method=GZIP, type=EXTERNAL, id=5779571, raw size=16, compressed size=36 +External Block (5779779): method=GZIP, type=EXTERNAL, id=5779779, raw size=14, compressed size=35 +External Block (5779811): method=GZIP, type=EXTERNAL, id=5779811, raw size=9617, compressed size=391 +External Block (5779827): method=GZIP, type=EXTERNAL, id=5779827, raw size=16, compressed size=36 +External Block (5783898): method=GZIP, type=EXTERNAL, id=5783898, raw size=4948, compressed size=1342 +External Block (5784419): method=RANS, type=EXTERNAL, id=5784419, raw size=2095, compressed size=1397 +External Block (5785443): method=RANS, type=EXTERNAL, id=5785443, raw size=9880, compressed size=191 +External Block (5786979): method=RANS, type=EXTERNAL, id=5786979, raw size=9880, compressed size=1298 +External Block (5787491): method=RANS, type=EXTERNAL, id=5787491, raw size=9880, compressed size=169 +External Block (5788737): method=RANS, type=EXTERNAL, id=5788737, raw size=9880, compressed size=335 + +***Container #:3 sequenceId=SINGLE_REFERENCE: 0, start=10022353, span=10302, nRecords=10000, nBlocks=51, nBases=1010000, globalCounter=20000 byteOffset=1563946 +Requires reference (true); Preserved read names (true); APDelta (true) + +Data Series Encodings: + +DataSeries (BF/BF_BitFlags) EXTERNAL (Content ID: 0) +DataSeries (CF/CF_CompressionBitFlags) EXTERNAL (Content ID: 21) +DataSeries (RI/RI_RefId) EXTERNAL (Content ID: 25) +DataSeries (RL/RL_ReadLength) EXTERNAL (Content ID: 9) +DataSeries (AP/AP_AlignmentPositionOffset) EXTERNAL (Content ID: 1) +DataSeries (RG/RG_ReadGroup) EXTERNAL (Content ID: 10) +DataSeries (RN/RN_ReadName) BYTE_ARRAY_STOP (Content ID: 12 StopByte: 9) +DataSeries (NF/NF_RecordsToNextFragment) EXTERNAL (Content ID: 8) +DataSeries (MF/MF_MateBitFlags) EXTERNAL (Content ID: 19) +DataSeries (NS/NS_NextFragmentReferenceSequenceID) EXTERNAL (Content ID: 20) +DataSeries (NP/NP_NextFragmentAlignmentStart) EXTERNAL (Content ID: 13) +DataSeries (TS/TS_InsertSize) EXTERNAL (Content ID: 14) +DataSeries (TL/TL_TagIdList) EXTERNAL (Content ID: 24) +DataSeries (TC/TC_TagCount) not present +DataSeries (TN/TN_TagNameAndType) not present +DataSeries (MQ/MQ_MappingQualityScore) EXTERNAL (Content ID: 11) +DataSeries (FN/FN_NumberOfReadFeatures) EXTERNAL (Content ID: 15) +DataSeries (FP/FP_FeaturePosition) EXTERNAL (Content ID: 2) +DataSeries (FC/FC_FeatureCode) EXTERNAL (Content ID: 3) +DataSeries (BB/BB_Bases) not present +DataSeries (QQ/QQ_scores) not present +DataSeries (BA/BA_Base) EXTERNAL (Content ID: 6) +DataSeries (QS/QS_QualityScore) EXTERNAL (Content ID: 4) +DataSeries (BS/BS_BaseSubstitutionCode) EXTERNAL (Content ID: 16) +DataSeries (IN/IN_Insertion) BYTE_ARRAY_STOP (Content ID: 17 StopByte: 9) +DataSeries (DL/DL_DeletionLength) EXTERNAL (Content ID: 5) +DataSeries (RS/RS_RefSkip) EXTERNAL (Content ID: 26) +DataSeries (SC/SC_SoftClip) BYTE_ARRAY_STOP (Content ID: 27 StopByte: 9) +DataSeries (PD/PD_padding) EXTERNAL (Content ID: 29) +DataSeries (HC/HC_HardClip) EXTERNAL (Content ID: 28) +DataSeries (TM/TM_TestMark) not present +DataSeries (TV/TV_TestMark) not present + +Tag Encodings: +Content ID/Tag (4279651/AM:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 4279651) +Content ID/Tag (4346202/BQ:Z) BYTE_ARRAY_LEN (LenEncoding: Symbols: 102 BitLengths 0 ByteEncoding: Content ID: 4346202) +Content ID/Tag (5063770/MD:Z) BYTE_ARRAY_STOP (Content ID: 5063770 StopByte: 9) +Content ID/Tag (5067107/MQ:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5067107) +Content ID/Tag (5131619/NM:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5131619) +Content ID/Tag (5194586/OC:Z) BYTE_ARRAY_STOP (Content ID: 5194586 StopByte: 9) +Content ID/Tag (5197929/OP:i) BYTE_ARRAY_LEN (LenEncoding: Symbols: 4 BitLengths 0 ByteEncoding: Content ID: 5197929) +Content ID/Tag (5198170/OQ:Z) BYTE_ARRAY_LEN (LenEncoding: Symbols: 102 BitLengths 0 ByteEncoding: Content ID: 5198170) +Content ID/Tag (5459299/SM:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5459299) +Content ID/Tag (5779555/X0:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5779555) +Content ID/Tag (5779571/X0:s) BYTE_ARRAY_LEN (LenEncoding: Symbols: 2 BitLengths 0 ByteEncoding: Content ID: 5779571) +Content ID/Tag (5779779/X1:C) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5779779) +Content ID/Tag (5779811/X1:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5779811) +Content ID/Tag (5779827/X1:s) BYTE_ARRAY_LEN (LenEncoding: Symbols: 2 BitLengths 0 ByteEncoding: Content ID: 5779827) +Content ID/Tag (5783898/XA:Z) BYTE_ARRAY_STOP (Content ID: 5783898 StopByte: 9) +Content ID/Tag (5784419/XC:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5784419) +Content ID/Tag (5785443/XG:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5785443) +Content ID/Tag (5786979/XM:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5786979) +Content ID/Tag (5787491/XO:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5787491) +Content ID/Tag (5788737/XT:A) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5788737) + +******Slice #: 1 slice: sequenceId=SINGLE_REFERENCE: 0, start=10022353, span=10302 globalRecordCounter=20000, nRecords=10000, sliceHeaderOffset=1706, sizeOfBlocks=740499, landmark=0, mapped/unmapped/unplaced: 0/0/0, md5=f5905b31729d54a3d420d5fc7cc8f3b2 +Header block method=RAW, type=MAPPED_SLICE, id=0, raw size=143, compressed size=143 +Core block method=RAW, type=CORE, id=0, raw size=0, compressed size=0 +External Block (BF): method=RANS, type=EXTERNAL, id=0, raw size=15782, compressed size=3756 +External Block (AP): method=RANS, type=EXTERNAL, id=1, raw size=10000, compressed size=2539 +External Block (FP): method=GZIP, type=EXTERNAL, id=2, raw size=4826, compressed size=3570 +External Block (FC): method=GZIP, type=EXTERNAL, id=3, raw size=4826, compressed size=925 +External Block (QS): method=RANS, type=EXTERNAL, id=4, raw size=1010000, compressed size=355563 +External Block (DL): method=GZIP, type=EXTERNAL, id=5, raw size=29, compressed size=40 +External Block (BA): method=RANS, type=EXTERNAL, id=6, raw size=12258, compressed size=1697 +External Block (7): method=GZIP, type=EXTERNAL, id=7, raw size=0, compressed size=20 +External Block (NF): method=GZIP, type=EXTERNAL, id=8, raw size=118, compressed size=24 +External Block (RL): method=RANS, type=EXTERNAL, id=9, raw size=10000, compressed size=36 +External Block (RG): method=RANS, type=EXTERNAL, id=10, raw size=10000, compressed size=5436 +External Block (MQ): method=GZIP, type=EXTERNAL, id=11, raw size=9882, compressed size=1041 +External Block (RN): method=GZIP, type=EXTERNAL, id=12, raw size=327557, compressed size=63397 +External Block (NP): method=GZIP, type=EXTERNAL, id=13, raw size=39056, compressed size=19239 +External Block (TS): method=RANS, type=EXTERNAL, id=14, raw size=34215, compressed size=14667 +External Block (FN): method=GZIP, type=EXTERNAL, id=15, raw size=9882, compressed size=2242 +External Block (BS): method=GZIP, type=EXTERNAL, id=16, raw size=2899, compressed size=759 +External Block (IN): method=GZIP, type=EXTERNAL, id=17, raw size=0, compressed size=20 +External Block (18): method=GZIP, type=EXTERNAL, id=18, raw size=0, compressed size=20 +External Block (MF): method=GZIP, type=EXTERNAL, id=19, raw size=9764, compressed size=1676 +External Block (NS): method=RANS, type=EXTERNAL, id=20, raw size=9764, compressed size=41 +External Block (CF): method=RANS, type=EXTERNAL, id=21, raw size=10000, compressed size=164 +External Block (TL): method=GZIP, type=EXTERNAL, id=24, raw size=10000, compressed size=2637 +External Block (RI): method=RANS, type=EXTERNAL, id=25, raw size=0, compressed size=0 +External Block (RS): method=GZIP, type=EXTERNAL, id=26, raw size=0, compressed size=20 +External Block (SC): method=GZIP, type=EXTERNAL, id=27, raw size=48299, compressed size=13163 +External Block (HC): method=GZIP, type=EXTERNAL, id=28, raw size=0, compressed size=20 +External Block (PD): method=GZIP, type=EXTERNAL, id=29, raw size=0, compressed size=20 +External Block (4279651): method=RANS, type=EXTERNAL, id=4279651, raw size=9882, compressed size=700 +External Block (4346202): method=RANS, type=EXTERNAL, id=4346202, raw size=849762, compressed size=32188 +External Block (5063770): method=GZIP, type=EXTERNAL, id=5063770, raw size=54093, compressed size=9866 +External Block (5067107): method=RANS, type=EXTERNAL, id=5067107, raw size=9763, compressed size=554 +External Block (5131619): method=RANS, type=EXTERNAL, id=5131619, raw size=9882, compressed size=1286 +External Block (5194586): method=GZIP, type=EXTERNAL, id=5194586, raw size=127, compressed size=68 +External Block (5197929): method=GZIP, type=EXTERNAL, id=5197929, raw size=24, compressed size=36 +External Block (5198170): method=RANS, type=EXTERNAL, id=5198170, raw size=1020000, compressed size=198619 +External Block (5459299): method=RANS, type=EXTERNAL, id=5459299, raw size=9882, compressed size=557 +External Block (5779555): method=RANS, type=EXTERNAL, id=5779555, raw size=9642, compressed size=100 +External Block (5779571): method=GZIP, type=EXTERNAL, id=5779571, raw size=4, compressed size=24 +External Block (5779779): method=GZIP, type=EXTERNAL, id=5779779, raw size=5, compressed size=25 +External Block (5779811): method=RANS, type=EXTERNAL, id=5779811, raw size=9629, compressed size=83 +External Block (5779827): method=GZIP, type=EXTERNAL, id=5779827, raw size=10, compressed size=30 +External Block (5783898): method=GZIP, type=EXTERNAL, id=5783898, raw size=476, compressed size=230 +External Block (5784419): method=RANS, type=EXTERNAL, id=5784419, raw size=1608, compressed size=1047 +External Block (5785443): method=RANS, type=EXTERNAL, id=5785443, raw size=9882, compressed size=195 +External Block (5786979): method=RANS, type=EXTERNAL, id=5786979, raw size=9882, compressed size=1198 +External Block (5787491): method=RANS, type=EXTERNAL, id=5787491, raw size=9882, compressed size=166 +External Block (5788737): method=RANS, type=EXTERNAL, id=5788737, raw size=9882, compressed size=263 + +***Container #:4 sequenceId=SINGLE_REFERENCE: 0, start=10032556, span=10955, nRecords=10000, nBlocks=49, nBases=1010000, globalCounter=30000 byteOffset=2306174 +Requires reference (true); Preserved read names (true); APDelta (true) + +Data Series Encodings: + +DataSeries (BF/BF_BitFlags) EXTERNAL (Content ID: 0) +DataSeries (CF/CF_CompressionBitFlags) EXTERNAL (Content ID: 21) +DataSeries (RI/RI_RefId) EXTERNAL (Content ID: 25) +DataSeries (RL/RL_ReadLength) EXTERNAL (Content ID: 9) +DataSeries (AP/AP_AlignmentPositionOffset) EXTERNAL (Content ID: 1) +DataSeries (RG/RG_ReadGroup) EXTERNAL (Content ID: 10) +DataSeries (RN/RN_ReadName) BYTE_ARRAY_STOP (Content ID: 12 StopByte: 9) +DataSeries (NF/NF_RecordsToNextFragment) EXTERNAL (Content ID: 8) 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(DL/DL_DeletionLength) EXTERNAL (Content ID: 5) +DataSeries (RS/RS_RefSkip) EXTERNAL (Content ID: 26) +DataSeries (SC/SC_SoftClip) BYTE_ARRAY_STOP (Content ID: 27 StopByte: 9) +DataSeries (PD/PD_padding) EXTERNAL (Content ID: 29) +DataSeries (HC/HC_HardClip) EXTERNAL (Content ID: 28) +DataSeries (TM/TM_TestMark) not present +DataSeries (TV/TV_TestMark) not present + +Tag Encodings: +Content ID/Tag (4279651/AM:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 4279651) +Content ID/Tag (4346202/BQ:Z) BYTE_ARRAY_LEN (LenEncoding: Symbols: 102 BitLengths 0 ByteEncoding: Content ID: 4346202) +Content ID/Tag (5063770/MD:Z) BYTE_ARRAY_STOP (Content ID: 5063770 StopByte: 9) +Content ID/Tag (5067107/MQ:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5067107) +Content ID/Tag (5131619/NM:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5131619) +Content ID/Tag (5194586/OC:Z) BYTE_ARRAY_STOP (Content ID: 5194586 StopByte: 9) +Content ID/Tag (5197929/OP:i) BYTE_ARRAY_LEN (LenEncoding: Symbols: 4 BitLengths 0 ByteEncoding: Content ID: 5197929) +Content ID/Tag (5198170/OQ:Z) BYTE_ARRAY_LEN (LenEncoding: Symbols: 102 BitLengths 0 ByteEncoding: Content ID: 5198170) +Content ID/Tag (5459299/SM:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5459299) +Content ID/Tag (5779555/X0:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5779555) +Content ID/Tag (5779811/X1:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5779811) +Content ID/Tag (5779827/X1:s) BYTE_ARRAY_LEN (LenEncoding: Symbols: 2 BitLengths 0 ByteEncoding: Content ID: 5779827) +Content ID/Tag (5783898/XA:Z) BYTE_ARRAY_STOP (Content ID: 5783898 StopByte: 9) +Content ID/Tag (5784419/XC:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5784419) +Content ID/Tag (5785443/XG:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5785443) +Content ID/Tag (5786979/XM:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5786979) +Content ID/Tag (5787491/XO:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5787491) +Content ID/Tag (5788737/XT:A) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5788737) + +******Slice #: 1 slice: sequenceId=SINGLE_REFERENCE: 0, start=10032556, span=10955 globalRecordCounter=30000, nRecords=10000, sliceHeaderOffset=1898, sizeOfBlocks=757971, landmark=0, mapped/unmapped/unplaced: 0/0/0, md5=37a6fb3ef0ea6760259426c3fcc205f8 +Header block method=RAW, type=MAPPED_SLICE, id=0, raw size=135, compressed size=135 +Core block method=RAW, type=CORE, id=0, raw size=0, compressed size=0 +External Block (BF): method=RANS, type=EXTERNAL, id=0, raw size=15679, compressed size=3682 +External Block (AP): method=RANS, type=EXTERNAL, id=1, raw size=10000, 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type=EXTERNAL, id=25, raw size=0, compressed size=0 +External Block (RS): method=GZIP, type=EXTERNAL, id=26, raw size=0, compressed size=20 +External Block (SC): method=GZIP, type=EXTERNAL, id=27, raw size=53505, compressed size=14442 +External Block (HC): method=GZIP, type=EXTERNAL, id=28, raw size=0, compressed size=20 +External Block (PD): method=GZIP, type=EXTERNAL, id=29, raw size=0, compressed size=20 +External Block (4279651): method=RANS, type=EXTERNAL, id=4279651, raw size=9887, compressed size=727 +External Block (4346202): method=RANS, type=EXTERNAL, id=4346202, raw size=874446, compressed size=39956 +External Block (5063770): method=GZIP, type=EXTERNAL, id=5063770, raw size=53925, compressed size=10267 +External Block (5067107): method=RANS, type=EXTERNAL, id=5067107, raw size=9774, compressed size=648 +External Block (5131619): method=RANS, type=EXTERNAL, id=5131619, raw size=9887, compressed size=1436 +External Block (5194586): method=GZIP, type=EXTERNAL, id=5194586, raw 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EXTERNAL (Content ID: 8) +DataSeries (MF/MF_MateBitFlags) EXTERNAL (Content ID: 19) +DataSeries (NS/NS_NextFragmentReferenceSequenceID) EXTERNAL (Content ID: 20) +DataSeries (NP/NP_NextFragmentAlignmentStart) EXTERNAL (Content ID: 13) +DataSeries (TS/TS_InsertSize) EXTERNAL (Content ID: 14) +DataSeries (TL/TL_TagIdList) EXTERNAL (Content ID: 24) +DataSeries (TC/TC_TagCount) not present +DataSeries (TN/TN_TagNameAndType) not present +DataSeries (MQ/MQ_MappingQualityScore) EXTERNAL (Content ID: 11) +DataSeries (FN/FN_NumberOfReadFeatures) EXTERNAL (Content ID: 15) +DataSeries (FP/FP_FeaturePosition) EXTERNAL (Content ID: 2) +DataSeries (FC/FC_FeatureCode) EXTERNAL (Content ID: 3) +DataSeries (BB/BB_Bases) not present +DataSeries (QQ/QQ_scores) not present +DataSeries (BA/BA_Base) EXTERNAL (Content ID: 6) +DataSeries (QS/QS_QualityScore) EXTERNAL (Content ID: 4) +DataSeries (BS/BS_BaseSubstitutionCode) EXTERNAL (Content ID: 16) +DataSeries (IN/IN_Insertion) BYTE_ARRAY_STOP (Content ID: 17 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(IN): method=GZIP, type=EXTERNAL, id=17, raw size=0, compressed size=20 +External Block (18): method=GZIP, type=EXTERNAL, id=18, raw size=0, compressed size=20 +External Block (MF): method=GZIP, type=EXTERNAL, id=19, raw size=9750, compressed size=1670 +External Block (NS): method=RANS, type=EXTERNAL, id=20, raw size=9750, compressed size=45 +External Block (CF): method=RANS, type=EXTERNAL, id=21, raw size=10000, compressed size=170 +External Block (TL): method=GZIP, type=EXTERNAL, id=24, raw size=10000, compressed size=2910 +External Block (RI): method=RANS, type=EXTERNAL, id=25, raw size=0, compressed size=0 +External Block (RS): method=GZIP, type=EXTERNAL, id=26, raw size=0, compressed size=20 +External Block (SC): method=GZIP, type=EXTERNAL, id=27, raw size=70636, compressed size=18716 +External Block (HC): method=GZIP, type=EXTERNAL, id=28, raw size=0, compressed size=20 +External Block (PD): method=GZIP, type=EXTERNAL, id=29, raw size=0, compressed size=20 +External Block (4279651): method=RANS, type=EXTERNAL, id=4279651, raw size=9875, compressed size=1040 +External Block (4346202): method=RANS, type=EXTERNAL, id=4346202, raw size=878424, compressed size=48856 +External Block (5063770): method=GZIP, type=EXTERNAL, id=5063770, raw size=57020, compressed size=13439 +External Block (5067107): method=RANS, type=EXTERNAL, id=5067107, raw size=9746, compressed size=910 +External Block (5131619): method=RANS, type=EXTERNAL, id=5131619, raw size=9875, compressed size=1700 +External Block (5194586): method=GZIP, type=EXTERNAL, id=5194586, raw size=524, compressed size=210 +External Block (5197929): method=GZIP, type=EXTERNAL, id=5197929, raw size=108, compressed size=69 +External Block (5198170): method=RANS, type=EXTERNAL, id=5198170, raw size=1020000, compressed size=212437 +External Block (5459299): method=RANS, type=EXTERNAL, id=5459299, raw size=9875, compressed size=818 +External Block (5779523): method=GZIP, type=EXTERNAL, id=5779523, raw size=5, compressed size=25 +External Block (5779555): method=RANS, type=EXTERNAL, id=5779555, raw size=9563, compressed size=192 +External Block (5779571): method=GZIP, type=EXTERNAL, id=5779571, raw size=8, compressed size=28 +External Block (5779779): method=GZIP, type=EXTERNAL, id=5779779, raw size=10, compressed size=31 +External Block (5779811): method=RANS, type=EXTERNAL, id=5779811, raw size=9530, compressed size=295 +External Block (5779827): method=GZIP, type=EXTERNAL, id=5779827, raw size=36, compressed size=57 +External Block (5783898): method=GZIP, type=EXTERNAL, id=5783898, raw size=2222, compressed size=780 +External Block (5784419): method=RANS, type=EXTERNAL, id=5784419, raw size=2283, compressed size=1517 +External Block (5785443): method=GZIP, type=EXTERNAL, id=5785443, raw size=9875, compressed size=357 +External Block (5786979): method=RANS, type=EXTERNAL, id=5786979, raw size=9875, compressed size=1558 +External Block (5787491): method=RANS, type=EXTERNAL, id=5787491, raw size=9875, compressed size=255 +External Block (5788737): method=RANS, type=EXTERNAL, id=5788737, raw size=9875, compressed size=370 + +***Container #:10 sequenceId=SINGLE_REFERENCE: 0, start=10099914, span=11455, nRecords=10000, nBlocks=52, nBases=1010000, globalCounter=90000 byteOffset=6938560 +Requires reference (true); Preserved read names (true); APDelta (true) + +Data Series Encodings: + +DataSeries (BF/BF_BitFlags) EXTERNAL (Content ID: 0) +DataSeries (CF/CF_CompressionBitFlags) EXTERNAL (Content ID: 21) +DataSeries (RI/RI_RefId) EXTERNAL (Content ID: 25) +DataSeries (RL/RL_ReadLength) EXTERNAL (Content ID: 9) +DataSeries (AP/AP_AlignmentPositionOffset) EXTERNAL (Content ID: 1) +DataSeries (RG/RG_ReadGroup) EXTERNAL (Content ID: 10) +DataSeries (RN/RN_ReadName) BYTE_ARRAY_STOP (Content ID: 12 StopByte: 9) +DataSeries (NF/NF_RecordsToNextFragment) EXTERNAL (Content ID: 8) +DataSeries (MF/MF_MateBitFlags) EXTERNAL (Content ID: 19) +DataSeries (NS/NS_NextFragmentReferenceSequenceID) EXTERNAL (Content ID: 20) +DataSeries (NP/NP_NextFragmentAlignmentStart) EXTERNAL (Content ID: 13) +DataSeries (TS/TS_InsertSize) EXTERNAL (Content ID: 14) +DataSeries (TL/TL_TagIdList) EXTERNAL (Content ID: 24) +DataSeries (TC/TC_TagCount) not present +DataSeries (TN/TN_TagNameAndType) not present +DataSeries (MQ/MQ_MappingQualityScore) EXTERNAL (Content ID: 11) +DataSeries (FN/FN_NumberOfReadFeatures) EXTERNAL (Content ID: 15) +DataSeries (FP/FP_FeaturePosition) EXTERNAL (Content ID: 2) +DataSeries (FC/FC_FeatureCode) EXTERNAL (Content ID: 3) +DataSeries (BB/BB_Bases) not present +DataSeries (QQ/QQ_scores) not present +DataSeries (BA/BA_Base) EXTERNAL (Content ID: 6) +DataSeries (QS/QS_QualityScore) EXTERNAL (Content ID: 4) +DataSeries (BS/BS_BaseSubstitutionCode) EXTERNAL (Content ID: 16) +DataSeries (IN/IN_Insertion) BYTE_ARRAY_STOP (Content ID: 17 StopByte: 9) +DataSeries (DL/DL_DeletionLength) EXTERNAL (Content ID: 5) +DataSeries (RS/RS_RefSkip) EXTERNAL (Content ID: 26) +DataSeries (SC/SC_SoftClip) BYTE_ARRAY_STOP (Content ID: 27 StopByte: 9) +DataSeries (PD/PD_padding) EXTERNAL (Content ID: 29) +DataSeries (HC/HC_HardClip) EXTERNAL (Content ID: 28) +DataSeries (TM/TM_TestMark) not present +DataSeries (TV/TV_TestMark) not present + +Tag Encodings: +Content ID/Tag (4279651/AM:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 4279651) +Content ID/Tag (4346202/BQ:Z) BYTE_ARRAY_LEN (LenEncoding: Symbols: 102 BitLengths 0 ByteEncoding: Content ID: 4346202) +Content ID/Tag (5063770/MD:Z) BYTE_ARRAY_STOP (Content ID: 5063770 StopByte: 9) +Content ID/Tag (5067107/MQ:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5067107) +Content ID/Tag (5131619/NM:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5131619) +Content ID/Tag (5194586/OC:Z) BYTE_ARRAY_STOP (Content ID: 5194586 StopByte: 9) +Content ID/Tag (5197929/OP:i) BYTE_ARRAY_LEN (LenEncoding: Symbols: 4 BitLengths 0 ByteEncoding: Content ID: 5197929) +Content ID/Tag (5198170/OQ:Z) BYTE_ARRAY_LEN (LenEncoding: Symbols: 102 BitLengths 0 ByteEncoding: Content ID: 5198170) +Content ID/Tag (5459299/SM:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5459299) +Content ID/Tag (5779523/X0:C) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5779523) +Content ID/Tag (5779555/X0:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5779555) +Content ID/Tag (5779571/X0:s) BYTE_ARRAY_LEN (LenEncoding: Symbols: 2 BitLengths 0 ByteEncoding: Content ID: 5779571) +Content ID/Tag (5779779/X1:C) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5779779) +Content ID/Tag (5779811/X1:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5779811) +Content ID/Tag (5779827/X1:s) BYTE_ARRAY_LEN (LenEncoding: Symbols: 2 BitLengths 0 ByteEncoding: Content ID: 5779827) +Content ID/Tag (5783898/XA:Z) BYTE_ARRAY_STOP (Content ID: 5783898 StopByte: 9) +Content ID/Tag (5784419/XC:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5784419) +Content ID/Tag (5785443/XG:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5785443) +Content ID/Tag (5786979/XM:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5786979) +Content ID/Tag (5787491/XO:c) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5787491) +Content ID/Tag (5788737/XT:A) BYTE_ARRAY_LEN (LenEncoding: Symbols: 1 BitLengths 0 ByteEncoding: Content ID: 5788737) + +******Slice #: 1 slice: sequenceId=SINGLE_REFERENCE: 0, start=10099914, span=11455 globalRecordCounter=90000, nRecords=10000, sliceHeaderOffset=2274, sizeOfBlocks=787838, landmark=0, mapped/unmapped/unplaced: 0/0/0, md5=e9da13dd481201a5ac434cd19f88dd8d +Header block method=RAW, type=MAPPED_SLICE, id=0, raw size=147, compressed size=147 +Core block method=RAW, type=CORE, id=0, raw size=0, compressed size=0 +External Block (BF): method=RANS, type=EXTERNAL, id=0, raw size=15640, compressed size=3675 +External Block (AP): method=RANS, type=EXTERNAL, id=1, raw size=10000, compressed size=2672 +External Block (FP): method=GZIP, type=EXTERNAL, id=2, raw size=6499, compressed size=4855 +External Block (FC): method=GZIP, type=EXTERNAL, id=3, raw size=6499, compressed size=1274 +External Block (QS): method=RANS, type=EXTERNAL, id=4, raw size=1010000, compressed size=360145 +External Block (DL): method=GZIP, type=EXTERNAL, id=5, raw size=261, compressed size=45 +External Block (BA): method=RANS, type=EXTERNAL, id=6, raw size=13229, compressed size=1827 +External Block (7): method=GZIP, type=EXTERNAL, id=7, raw size=0, compressed size=20 +External Block (NF): method=GZIP, type=EXTERNAL, id=8, raw size=130, compressed size=24 +External Block (RL): method=RANS, type=EXTERNAL, id=9, raw size=10000, compressed size=36 +External Block (RG): method=RANS, type=EXTERNAL, id=10, raw size=10000, compressed size=5489 +External Block (MQ): method=GZIP, type=EXTERNAL, id=11, raw size=9870, compressed size=1372 +External Block (RN): method=GZIP, type=EXTERNAL, id=12, raw size=327562, compressed size=64000 +External Block (NP): method=GZIP, type=EXTERNAL, id=13, raw size=38960, compressed size=19765 +External Block (TS): method=RANS, type=EXTERNAL, id=14, raw size=34091, compressed size=14812 +External Block (FN): method=GZIP, type=EXTERNAL, id=15, raw size=9870, compressed size=2647 +External Block (BS): method=GZIP, type=EXTERNAL, id=16, raw size=4064, compressed size=1026 +External Block (IN): method=GZIP, type=EXTERNAL, id=17, raw size=0, compressed size=20 +External Block (18): method=GZIP, type=EXTERNAL, id=18, raw size=0, compressed size=20 +External Block (MF): method=GZIP, type=EXTERNAL, id=19, raw size=9740, compressed size=1679 +External Block (NS): method=RANS, type=EXTERNAL, id=20, raw size=9740, compressed size=31 +External Block (CF): method=RANS, type=EXTERNAL, id=21, raw size=10000, compressed size=175 +External Block (TL): method=GZIP, type=EXTERNAL, id=24, raw size=10000, compressed size=2840 +External Block (RI): method=RANS, type=EXTERNAL, id=25, raw size=0, compressed size=0 +External Block (RS): method=GZIP, type=EXTERNAL, id=26, raw size=0, compressed size=20 +External Block (SC): method=GZIP, type=EXTERNAL, id=27, raw size=64204, compressed size=17182 +External Block (HC): method=GZIP, type=EXTERNAL, id=28, raw size=0, compressed size=20 +External Block (PD): method=GZIP, type=EXTERNAL, id=29, raw size=0, compressed size=20 +External Block (4279651): method=RANS, type=EXTERNAL, id=4279651, raw size=9870, compressed size=922 +External Block (4346202): method=RANS, type=EXTERNAL, id=4346202, raw size=876180, compressed size=43827 +External Block (5063770): method=GZIP, type=EXTERNAL, id=5063770, raw size=57022, compressed size=13398 +External Block (5067107): method=RANS, type=EXTERNAL, id=5067107, raw size=9740, compressed size=787 +External Block (5131619): method=RANS, type=EXTERNAL, id=5131619, raw size=9870, compressed size=1657 +External Block (5194586): method=GZIP, type=EXTERNAL, id=5194586, raw size=258, compressed size=111 +External Block (5197929): method=GZIP, type=EXTERNAL, id=5197929, raw size=56, compressed size=59 +External Block (5198170): method=RANS, type=EXTERNAL, id=5198170, raw size=1020000, compressed size=214776 +External Block (5459299): method=RANS, type=EXTERNAL, id=5459299, raw size=9870, compressed size=740 +External Block (5779523): method=GZIP, type=EXTERNAL, id=5779523, raw size=1, compressed size=21 +External Block (5779555): method=RANS, type=EXTERNAL, id=5779555, raw size=9635, compressed size=208 +External Block (5779571): method=GZIP, type=EXTERNAL, id=5779571, raw size=2, compressed size=22 +External Block (5779779): method=GZIP, type=EXTERNAL, id=5779779, raw size=10, compressed size=31 +External Block (5779811): method=RANS, type=EXTERNAL, id=5779811, raw size=9605, compressed size=303 +External Block (5779827): method=GZIP, type=EXTERNAL, id=5779827, raw size=22, compressed size=42 +External Block (5783898): method=GZIP, type=EXTERNAL, id=5783898, raw size=2462, compressed size=912 +External Block (5784419): method=RANS, type=EXTERNAL, id=5784419, raw size=2141, compressed size=1432 +External Block (5785443): method=GZIP, type=EXTERNAL, id=5785443, raw size=9870, compressed size=273 +External Block (5786979): method=RANS, type=EXTERNAL, id=5786979, raw size=9870, compressed size=1536 +External Block (5787491): method=RANS, type=EXTERNAL, id=5787491, raw size=9870, compressed size=218 +External Block (5788737): method=RANS, type=EXTERNAL, id=5788737, raw size=9870, compressed size=322 + +Total Record Count: 100000 + +Core Block(s) Total: 0 + +External Data Series Totals (external block resolution - all core data encodings accrue to the core block): + +BF_BitFlags: 36,752 +AP_AlignmentPositionOffset: 26,437 +FP_FeaturePosition: 43,967 +FC_FeatureCode: 11,303 +QS_QualityScore: 3,576,041 +DL_DeletionLength: 453 +BA_Base: 17,779 +NF_RecordsToNextFragment: 240 +RL_ReadLength: 360 +RG_ReadGroup: 54,781 +MQ_MappingQualityScore: 12,252 +RN_ReadName: 639,466 +NP_NextFragmentAlignmentStart: 196,860 +TS_InsertSize: 147,976 +FN_NumberOfReadFeatures: 24,189 +BS_BaseSubstitutionCode: 9,120 +IN_Insertion: 200 +MF_MateBitFlags: 16,746 +NS_NextFragmentReferenceSequenceID: 344 +CF_CompressionBitFlags: 1,602 +TL_TagIdList: 27,366 +RI_RefId: 0 +RS_RefSkip: 200 +SC_SoftClip: 163,713 +HC_HardClip: 200 +PD_padding: 200 + +Tag Series Distribution: + +7 (:): 200 +18 (:): 200 +4279651 (AM:c): 8,804 +4346202 (BQ:Z): 413,436 +5063770 (MD:Z): 118,072 +5067107 (MQ:c): 7,457 +5131619 (NM:c): 14,378 +5194586 (OC:Z): 1,211 +5197929 (OP:i): 551 +5198170 (OQ:Z): 2,074,873 +5459299 (SM:c): 6,909 +5779523 (X0:C): 119 +5779555 (X0:c): 1,384 +5779571 (X0:s): 160 +5779779 (X1:C): 213 +5779811 (X1:c): 1,934 +5779827 (X1:s): 323 +5783898 (XA:Z): 6,511 +5784419 (XC:c): 13,253 +5785443 (XG:c): 2,020 +5786979 (XM:c): 13,370 +5787491 (XO:c): 1,626 +5788737 (XT:A): 2,935 + diff --git a/src/test/resources/filediagnostics/cram_with_crai_index.cram.crai.txt b/src/test/resources/filediagnostics/cram_with_crai_index.cram.crai.txt new file mode 100644 index 00000000000..72ebe6c5679 --- /dev/null +++ b/src/test/resources/filediagnostics/cram_with_crai_index.cram.crai.txt @@ -0,0 +1,8 @@ + +SeqId AlignmentStart AlignmentSpan ContainerOffset SliceOffset SliceSize + +0 200 976 1069 245 598 +1 500 226 1929 242 534 +2 300 176 2722 240 498 +3 700 76 3477 238 453 + diff --git a/src/test/resources/filediagnostics/example_pfFail_reads.bam.bai.txt b/src/test/resources/filediagnostics/example_pfFail_reads.bam.bai.txt new file mode 100644 index 00000000000..ffb4e1cb1d0 --- /dev/null +++ b/src/test/resources/filediagnostics/example_pfFail_reads.bam.bai.txt @@ -0,0 +1,66 @@ +n_ref=8 +Reference 0 has n_bin= 2 + Ref 0 bin 4681 (bin=4681, level=5, first bin=4681, bin size=16,384 bin range=(0-16,384)) has n_chunk= 1 + Chunk: 0:345-0:567 start: 159 end: 237 + Ref 0 bin 37450 has n_chunk= 2 + Chunk: start: 159 end: 237 + Chunk: start: 1 end: 0 +Reference 0 has n_intv= 1 + Ref 0 ioffset for 0 is 0:345 +Reference 1 has n_bin= 2 + Ref 1 bin 4681 (bin=4681, level=5, first bin=4681, bin size=16,384 bin range=(0-16,384)) has n_chunk= 1 + Chunk: 0:567-0:790 start: 237 end: 316 + Ref 1 bin 37450 has n_chunk= 2 + Chunk: start: 237 end: 316 + Chunk: start: 1 end: 0 +Reference 1 has n_intv= 1 + Ref 1 ioffset for 0 is 0:567 +Reference 2 has n_bin= 2 + Ref 2 bin 4681 (bin=4681, level=5, first bin=4681, bin size=16,384 bin range=(0-16,384)) has n_chunk= 1 + Chunk: 0:790-0:1009 start: 316 end: 3f1 + Ref 2 bin 37450 has n_chunk= 2 + Chunk: start: 316 end: 3f1 + Chunk: start: 1 end: 0 +Reference 2 has n_intv= 1 + Ref 2 ioffset for 0 is 0:790 +Reference 3 has n_bin= 2 + Ref 3 bin 4681 (bin=4681, level=5, first bin=4681, bin size=16,384 bin range=(0-16,384)) has n_chunk= 1 + Chunk: 0:1009-0:1228 start: 3f1 end: 4cc + Ref 3 bin 37450 has n_chunk= 2 + Chunk: start: 3f1 end: 4cc + Chunk: start: 1 end: 0 +Reference 3 has n_intv= 1 + Ref 3 ioffset for 0 is 0:1009 +Reference 4 has n_bin= 2 + Ref 4 bin 4681 (bin=4681, level=5, first bin=4681, bin size=16,384 bin range=(0-16,384)) has n_chunk= 1 + Chunk: 0:1228-0:1445 start: 4cc end: 5a5 + Ref 4 bin 37450 has n_chunk= 2 + Chunk: start: 4cc end: 5a5 + Chunk: start: 1 end: 0 +Reference 4 has n_intv= 1 + Ref 4 ioffset for 0 is 0:1228 +Reference 5 has n_bin= 2 + Ref 5 bin 4681 (bin=4681, level=5, first bin=4681, bin size=16,384 bin range=(0-16,384)) has n_chunk= 1 + Chunk: 0:1445-0:1663 start: 5a5 end: 67f + Ref 5 bin 37450 has n_chunk= 2 + Chunk: start: 5a5 end: 67f + Chunk: start: 1 end: 0 +Reference 5 has n_intv= 1 + Ref 5 ioffset for 0 is 0:1445 +Reference 6 has n_bin= 2 + Ref 6 bin 4681 (bin=4681, level=5, first bin=4681, bin size=16,384 bin range=(0-16,384)) has n_chunk= 1 + Chunk: 0:1663-0:2319 start: 67f end: 90f + Ref 6 bin 37450 has n_chunk= 2 + Chunk: start: 67f end: 90f + Chunk: start: 3 end: 0 +Reference 6 has n_intv= 1 + Ref 6 ioffset for 0 is 0:1663 +Reference 7 has n_bin= 2 + Ref 7 bin 4681 (bin=4681, level=5, first bin=4681, bin size=16,384 bin range=(0-16,384)) has n_chunk= 1 + Chunk: 0:2319-0:2755 start: 90f end: ac3 + Ref 7 bin 37450 has n_chunk= 2 + Chunk: start: 90f end: ac3 + Chunk: start: 2 end: 0 +Reference 7 has n_intv= 1 + Ref 7 ioffset for 0 is 0:2319 +No Coordinate Count=8 From 2ad4a3e5bbbb8a51ddb766a22d4c7f2e15a4c59c Mon Sep 17 00:00:00 2001 From: Louis Bergelson Date: Fri, 8 Dec 2023 20:09:45 -0500 Subject: [PATCH 15/64] Allow GenomicsDBImport to connect to az:// files without interference (#8438) * GATK's lack of support for az:// URIs means that although GenomicsDB can natively read them, parts of the java code crash when interacting with them * Adding --avoid-nio and --header arguments These allow disabling all of the java interaction with the az:// links and simply passing them through to genomicsdb This disables some safeguards but allows operating on files in azur * Update GenomicsDB version to 1.5.1 for azure improved support * There are no direct tests on azure since we do not yet have any infrastructure to generate the necessary tokens, there is a disabled test which requires https://github.com/broadinstitute/gatk/issues/8612 before we can enable it. --------- Co-authored-by: Nalini Ganapati Co-authored-by: Nalini Ganapati --- build.gradle | 4 +- .../tools/genomicsdb/GenomicsDBImport.java | 156 ++++++++++++------ .../GenomicsDBImportIntegrationTest.java | 96 +++++++++-- .../spark/PileupSparkIntegrationTest.java | 14 +- .../tools/GenomicsDBImport/azureHeader.vcf | 95 +++++++++++ .../GenomicsDBImport/azureSampleNameMap.txt | 1 + .../testutils/ArgumentsBuilder.java | 25 +++ .../hellbender/testutils/BaseTest.java | 33 +++- .../testutils/CommandLineProgramTester.java | 1 + 9 files changed, 345 insertions(+), 80 deletions(-) create mode 100644 src/test/resources/org/broadinstitute/hellbender/tools/GenomicsDBImport/azureHeader.vcf create mode 100644 src/test/resources/org/broadinstitute/hellbender/tools/GenomicsDBImport/azureSampleNameMap.txt diff --git a/build.gradle b/build.gradle index 55bb2dca57c..d580ab8bfd0 100644 --- a/build.gradle +++ b/build.gradle @@ -63,7 +63,7 @@ final barclayVersion = System.getProperty('barclay.version','5.0.0') final sparkVersion = System.getProperty('spark.version', '3.3.1') final hadoopVersion = System.getProperty('hadoop.version', '3.3.6') final disqVersion = System.getProperty('disq.version','0.3.8') -final genomicsdbVersion = System.getProperty('genomicsdb.version','1.5.0') +final genomicsdbVersion = System.getProperty('genomicsdb.version','1.5.1') final bigQueryVersion = System.getProperty('bigQuery.version', '2.35.0') final bigQueryStorageVersion = System.getProperty('bigQueryStorage.version', '2.47.0') final guavaVersion = System.getProperty('guava.version', '32.1.3-jre') @@ -976,7 +976,7 @@ ossIndexAudit { outputFormat = 'DEFAULT' // Optional, other values are: 'DEPENDENCY_GRAPH' prints dependency graph showing direct/transitive dependencies, 'JSON_CYCLONE_DX_1_4' prints a CycloneDX 1.4 SBOM in JSON format. showAll = false // if true prints all dependencies. By default is false, meaning only dependencies with vulnerabilities will be printed. printBanner = true // if true will print ASCII text banner. By default is true. - + // ossIndexAudit can be configured to exclude vulnerabilities from matching // excludeVulnerabilityIds = ['39d74cc8-457a-4e57-89ef-a258420138c5'] // list containing ids of vulnerabilities to be ignored // excludeCoordinates = ['commons-fileupload:commons-fileupload:1.3'] // list containing coordinate of components which if vulnerable should be ignored diff --git a/src/main/java/org/broadinstitute/hellbender/tools/genomicsdb/GenomicsDBImport.java b/src/main/java/org/broadinstitute/hellbender/tools/genomicsdb/GenomicsDBImport.java index bf5b3a61198..fd58587abd4 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/genomicsdb/GenomicsDBImport.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/genomicsdb/GenomicsDBImport.java @@ -22,6 +22,7 @@ import org.broadinstitute.barclay.help.DocumentedFeature; import org.broadinstitute.hellbender.cmdline.StandardArgumentDefinitions; import org.broadinstitute.hellbender.cmdline.programgroups.ShortVariantDiscoveryProgramGroup; +import org.broadinstitute.hellbender.engine.FeatureInput; import org.broadinstitute.hellbender.engine.GATKTool; import org.broadinstitute.hellbender.exceptions.GATKException; import org.broadinstitute.hellbender.exceptions.UserException; @@ -36,29 +37,29 @@ import org.genomicsdb.importer.GenomicsDBImporter; import org.genomicsdb.model.BatchCompletionCallbackFunctionArgument; import org.genomicsdb.model.Coordinates; -import org.genomicsdb.model.GenomicsDBCallsetsMapProto; import org.genomicsdb.model.GenomicsDBImportConfiguration; import org.genomicsdb.model.GenomicsDBVidMapProto; import org.genomicsdb.model.ImportConfig; import java.io.File; import java.io.IOException; +import java.io.Serial; import java.net.URI; import java.net.URISyntaxException; -import java.nio.charset.StandardCharsets; import java.nio.file.Files; import java.nio.file.Path; import java.util.ArrayList; +import java.util.Arrays; import java.util.Iterator; import java.util.LinkedHashMap; import java.util.LinkedHashSet; import java.util.List; import java.util.Map; import java.util.NoSuchElementException; +import java.util.Objects; import java.util.Set; import java.util.SortedMap; import java.util.TreeMap; -import java.util.Arrays; import java.util.concurrent.CompletionException; import java.util.concurrent.ExecutionException; import java.util.concurrent.ExecutorService; @@ -67,9 +68,6 @@ import java.util.concurrent.ThreadFactory; import java.util.stream.Collectors; -import static org.broadinstitute.hellbender.tools.genomicsdb.GATKGenomicsDBUtils.genomicsDBGetAbsolutePath; -import static org.broadinstitute.hellbender.tools.genomicsdb.GATKGenomicsDBUtils.genomicsDBApppendPaths; - /** * Import single-sample GVCFs into GenomicsDB before joint genotyping. * @@ -146,7 +144,7 @@ * * * It is also possible to specify an explicit index for only a subset of the samples: - * + * * 
      *  sample1      sample1.vcf.gz
  *  sample2      sample2.vcf.gz      sample2.vcf.gz.tbi
@@ -218,12 +216,14 @@ public final class GenomicsDBImport extends GATKTool {
     public static final String MAX_NUM_INTERVALS_TO_IMPORT_IN_PARALLEL = "max-num-intervals-to-import-in-parallel";
     public static final String MERGE_CONTIGS_INTO_NUM_PARTITIONS = "merge-contigs-into-num-partitions";
     public static final String BYPASS_FEATURE_READER = "bypass-feature-reader";
+    public static final String VCF_HEADER_OVERRIDE = "header";
     public static final int INTERVAL_LIST_SIZE_WARNING_THRESHOLD = 100;
     public static final int ARRAY_COLUMN_BOUNDS_START = 0;
     public static final int ARRAY_COLUMN_BOUNDS_END = 1;
 
     public static final String SHARED_POSIXFS_OPTIMIZATIONS = GenomicsDBArgumentCollection.SHARED_POSIXFS_OPTIMIZATIONS;
     public static final String USE_GCS_HDFS_CONNECTOR = GenomicsDBArgumentCollection.USE_GCS_HDFS_CONNECTOR;
+    public static final String AVOID_NIO = "avoid-nio";
 
     @Argument(fullName = WORKSPACE_ARG_LONG_NAME,
               doc = "Workspace for GenomicsDB. Can be a POSIX file system absolute or relative path or a HDFS/GCS URL. " +
@@ -239,7 +239,7 @@ public final class GenomicsDBImport extends GATKTool {
                     "when using the "+INTERVAL_LIST_LONG_NAME+" option. " +
                     "Either this or "+WORKSPACE_ARG_LONG_NAME+" must be specified. " +
                     "Must point to an existing workspace.",
-              mutex = {WORKSPACE_ARG_LONG_NAME})
+              mutex = {WORKSPACE_ARG_LONG_NAME, VCF_HEADER_OVERRIDE})
     private String incrementalImportWorkspace;
 
     @Argument(fullName = SEGMENT_SIZE_ARG_LONG_NAME,
@@ -254,7 +254,7 @@ public final class GenomicsDBImport extends GATKTool {
                     " data for only a single sample. Either this or " + SAMPLE_NAME_MAP_LONG_NAME +
                     " must be specified.",
               optional = true,
-              mutex = {SAMPLE_NAME_MAP_LONG_NAME})
+              mutex = {SAMPLE_NAME_MAP_LONG_NAME, AVOID_NIO})
     private List variantPaths;
 
     @Argument(fullName = VCF_BUFFER_SIZE_ARG_NAME,
@@ -364,6 +364,13 @@ public final class GenomicsDBImport extends GATKTool {
             optional = true)
     private boolean sharedPosixFSOptimizations = false;
 
+    @Argument(fullName = VCF_HEADER_OVERRIDE,
+        doc = "Specify a vcf file to use instead of reading and combining headers from the input vcfs",
+        optional = true,
+        mutex ={INCREMENTAL_WORKSPACE_ARG_LONG_NAME}
+    )
+    private FeatureInput headerOverride = null;
+
     @Argument(fullName = BYPASS_FEATURE_READER,
             doc = "Use htslib to read input VCFs instead of GATK's FeatureReader. This will reduce memory usage and potentially speed up " +
                   "the import. Lower memory requirements may also enable parallelism through " + MAX_NUM_INTERVALS_TO_IMPORT_IN_PARALLEL +
@@ -371,6 +378,15 @@ public final class GenomicsDBImport extends GATKTool {
             optional = true)
     private boolean bypassFeatureReader = false;
 
+    @Argument(fullName = AVOID_NIO,
+                doc = "Do not attempt to open the input vcf file paths in java.  This can only be used with " + BYPASS_FEATURE_READER
+            + ".  It allows operating on file systems which GenomicsDB understands how to open but GATK does not.  This will disable "
+            + "many of the sanity checks.",
+            mutex = {StandardArgumentDefinitions.VARIANT_LONG_NAME}
+    )
+    @Advanced
+    private boolean avoidNio = false;
+
     @Argument(fullName = USE_GCS_HDFS_CONNECTOR,
             doc = "Use the GCS HDFS Connector instead of the native GCS SDK client with gs:// URLs.",
             optional = true)
@@ -440,10 +456,6 @@ public int getDefaultCloudIndexPrefetchBufferSize() {
     // Path to combined VCF header file to be written by GenomicsDBImporter
     private String vcfHeaderFile;
 
-    // GenomicsDB callset map protobuf structure containing all callset names
-    // used to write the callset json file on traversal success
-    private GenomicsDBCallsetsMapProto.CallsetMappingPB callsetMappingPB;
-
     //in-progress batchCount
     private int batchCount = 1;
 
@@ -463,11 +475,14 @@ public void onStartup() {
         initializeWorkspaceAndToolMode();
         assertVariantPathsOrSampleNameFileWasSpecified();
         assertOverwriteWorkspaceAndIncrementalImportMutuallyExclusive();
+        assertAvoidNioConditionsAreValid();
         initializeHeaderAndSampleMappings();
         initializeIntervals();
         super.onStartup();
     }
 
+
+
     private void initializeWorkspaceAndToolMode() {
         if (incrementalImportWorkspace != null && !incrementalImportWorkspace.isEmpty()) {
             doIncrementalImport = true;
@@ -495,6 +510,24 @@ private void assertVariantPathsOrSampleNameFileWasSpecified(){
         }
     }
 
+    private void assertAvoidNioConditionsAreValid() {
+        if (avoidNio && (!bypassFeatureReader || headerOverride == null) ){
+            final List missing = new ArrayList<>();
+            if(!bypassFeatureReader){
+                missing.add(BYPASS_FEATURE_READER);
+            }
+            if(headerOverride == null){
+                missing.add(VCF_HEADER_OVERRIDE);
+            }
+            final String missingArgs = String.join(" and ", missing);
+
+            // this potentially produces and exception with bad grammar but that's probably ok
+            throw new CommandLineException.MissingArgument(missingArgs, "If --" +AVOID_NIO + " is set then --" + BYPASS_FEATURE_READER
+                    + " and --" + VCF_HEADER_OVERRIDE + " must also be specified.");
+
+        }
+    }
+
     private static void assertIntervalsCoverEntireContigs(GenomicsDBImporter importer,
                                                           List intervals) {
         GenomicsDBVidMapProto.VidMappingPB vidMapPB = importer.getProtobufVidMapping();
@@ -523,32 +556,37 @@ private static void assertIntervalsCoverEntireContigs(GenomicsDBImporter importe
      */
     private void initializeHeaderAndSampleMappings() {
         // Only one of -V and --sampleNameMapFile may be specified
-        if (variantPaths != null && variantPaths.size() > 0) {
+        if (variantPaths != null && !variantPaths.isEmpty()) {
             // -V was specified
             final List headers = new ArrayList<>(variantPaths.size());
             sampleNameMap = new SampleNameMap();
-            for (final String variantPathString : variantPaths) {
-                final Path variantPath = IOUtils.getPath(variantPathString);
-                if (bypassFeatureReader) {
-                    GATKGenomicsDBUtils.assertVariantFileIsCompressedAndIndexed(variantPath);
-                }
-                final  VCFHeader header = getHeaderFromPath(variantPath, null);
-                Utils.validate(header != null, "Null header was found in " + variantPath + ".");
-                assertGVCFHasOnlyOneSample(variantPathString, header);
-                headers.add(header);
 
-                final String sampleName = header.getGenotypeSamples().get(0);
-                try {
-                    sampleNameMap.addSample(sampleName, new URI(variantPathString));
-                }
-                catch(final URISyntaxException e) {
-                    throw new UserException("Malformed URI "+e.toString(), e);
+            if(headerOverride == null) {
+                for (final String variantPathString : variantPaths) {
+                    final Path variantPath = IOUtils.getPath(variantPathString);
+                    if (bypassFeatureReader) { // avoid-nio can't be set here because it requires headerOverride
+                        GATKGenomicsDBUtils.assertVariantFileIsCompressedAndIndexed(variantPath);
+                    }
+                    final VCFHeader header = getHeaderFromPath(variantPath);
+                    Utils.validate(header != null, "Null header was found in " + variantPath + ".");
+                    assertGVCFHasOnlyOneSample(variantPathString, header);
+                    headers.add(header);
+
+                    final String sampleName = header.getGenotypeSamples().get(0);
+                    try {
+                        sampleNameMap.addSample(sampleName, new URI(variantPathString));
+                    } catch (final URISyntaxException e) {
+                        throw new UserException("Malformed URI " + e.getMessage(), e);
+                    }
                 }
+                mergedHeaderLines = VCFUtils.smartMergeHeaders(headers, true);
+                mergedHeaderSequenceDictionary = new VCFHeader(mergedHeaderLines).getSequenceDictionary();
+            } else {
+                final VCFHeader header = getHeaderFromPath(headerOverride.toPath());
+                mergedHeaderLines = new LinkedHashSet<>(header.getMetaDataInInputOrder());
+                mergedHeaderSequenceDictionary = header.getSequenceDictionary();
             }
-            mergedHeaderLines = VCFUtils.smartMergeHeaders(headers, true);
-            mergedHeaderSequenceDictionary = new VCFHeader(mergedHeaderLines).getSequenceDictionary();
             mergedHeaderLines.addAll(getDefaultToolVCFHeaderLines());
-
         } else if (sampleNameMapFile != null) {
             // --sampleNameMap was specified
 
@@ -556,31 +594,34 @@ private void initializeHeaderAndSampleMappings() {
             //the resulting database will have incorrect sample names
             //see https://github.com/broadinstitute/gatk/issues/3682 for more information
             // The SampleNameMap class guarantees that the samples will be sorted correctly.
-            sampleNameMap = new SampleNameMap(IOUtils.getPath(sampleNameMapFile), bypassFeatureReader);
+            sampleNameMap = new SampleNameMap(IOUtils.getPath(sampleNameMapFile),
+                    bypassFeatureReader && !avoidNio);
 
             final String firstSample = sampleNameMap.getSampleNameToVcfPath().entrySet().iterator().next().getKey();
-            final Path firstVCFPath = sampleNameMap.getVCFForSampleAsPath(firstSample);
-            final Path firstVCFIndexPath = sampleNameMap.getVCFIndexForSampleAsPath(firstSample);
-            final VCFHeader header = getHeaderFromPath(firstVCFPath, firstVCFIndexPath);
 
+            final VCFHeader header;
+            if(headerOverride == null){
+                final Path firstVCFPath = sampleNameMap.getVCFForSampleAsPath(firstSample);
+                header = getHeaderFromPath(firstVCFPath);
+            } else {
+                header = getHeaderFromPath(headerOverride.toPath());
+            }
             //getMetaDataInInputOrder() returns an ImmutableSet - LinkedHashSet is mutable and preserves ordering
-            mergedHeaderLines = new LinkedHashSet(header.getMetaDataInInputOrder());
+            mergedHeaderLines = new LinkedHashSet<>(header.getMetaDataInInputOrder());
             mergedHeaderSequenceDictionary = header.getSequenceDictionary();
             mergedHeaderLines.addAll(getDefaultToolVCFHeaderLines());
-        }
-        else if (getIntervalsFromExistingWorkspace){
+        } else if (getIntervalsFromExistingWorkspace){
             final String vcfHeader = IOUtils.appendPathToDir(workspace, GenomicsDBConstants.DEFAULT_VCFHEADER_FILE_NAME);
             IOUtils.assertPathsAreReadable(vcfHeader);
             final String header = GenomicsDBUtils.readEntireFile(vcfHeader);
             try {
                 File tempHeader = IOUtils.createTempFile("tempheader", ".vcf");
-                Files.write(tempHeader.toPath(), header.getBytes(StandardCharsets.UTF_8));
+                Files.writeString(tempHeader.toPath(), header);
                 mergedHeaderSequenceDictionary = VCFFileReader.getSequenceDictionary(tempHeader);
             } catch (final IOException e) {
-                throw new UserException("Unable to create temporary header file to get sequence dictionary");
+                throw new UserException("Unable to create temporary header file to get sequence dictionary", e);
             }
-        }
-        else {
+        } else {
             throw new UserException(StandardArgumentDefinitions.VARIANT_LONG_NAME+" or "+
                     SAMPLE_NAME_MAP_LONG_NAME+" must be specified unless "+
                     INTERVAL_LIST_LONG_NAME+" is specified");
@@ -599,8 +640,12 @@ else if (getIntervalsFromExistingWorkspace){
         }
     }
 
-    private VCFHeader getHeaderFromPath(final Path variantPath, final Path variantIndexPath) {
-        try(final FeatureReader reader = getReaderFromPath(variantPath, variantIndexPath)) {
+    private VCFHeader getHeaderFromPath(final Path variantPath) {
+        //TODO make this mangling unecessary
+        final String variantURI = variantPath.toAbsolutePath().toUri().toString();
+        try(final FeatureReader reader = AbstractFeatureReader.getFeatureReader(variantURI, null, new VCFCodec(), false,
+                BucketUtils.getPrefetchingWrapper(cloudPrefetchBuffer),
+                BucketUtils.getPrefetchingWrapper(cloudIndexPrefetchBuffer))) {
             return (VCFHeader) reader.getHeader();
         } catch (final IOException e) {
             throw new UserException("Error while reading vcf header from " + variantPath.toUri(), e);
@@ -633,9 +678,9 @@ private void writeIntervalListToFile() {
     @Override
     public void onTraversalStart() {
         String workspaceDir = overwriteCreateOrCheckWorkspace();
-        vidMapJSONFile = genomicsDBApppendPaths(workspaceDir, GenomicsDBConstants.DEFAULT_VIDMAP_FILE_NAME);
-        callsetMapJSONFile = genomicsDBApppendPaths(workspaceDir, GenomicsDBConstants.DEFAULT_CALLSETMAP_FILE_NAME);
-        vcfHeaderFile = genomicsDBApppendPaths(workspaceDir, GenomicsDBConstants.DEFAULT_VCFHEADER_FILE_NAME);
+        vidMapJSONFile = GATKGenomicsDBUtils.genomicsDBApppendPaths(workspaceDir, GenomicsDBConstants.DEFAULT_VIDMAP_FILE_NAME);
+        callsetMapJSONFile = GATKGenomicsDBUtils.genomicsDBApppendPaths(workspaceDir, GenomicsDBConstants.DEFAULT_CALLSETMAP_FILE_NAME);
+        vcfHeaderFile = GATKGenomicsDBUtils.genomicsDBApppendPaths(workspaceDir, GenomicsDBConstants.DEFAULT_VCFHEADER_FILE_NAME);
         if (getIntervalsFromExistingWorkspace) {
             // intervals may be null if merge-contigs-into-num-partitions was used to create the workspace
             // if so, we need to wait for vid to be generated before writing out the interval list
@@ -775,7 +820,7 @@ private List generateIntervalListFromWorkspace() {
             final int start = Integer.parseInt(partitionInfo[1]);
             final int end = Integer.parseInt(partitionInfo[2]);
             return new SimpleInterval(contig, start, end);
-        }).filter(o -> o != null).collect(Collectors.toList());
+        }).filter(Objects::nonNull).collect(Collectors.toList());
     }
 
     private ImportConfig createImportConfig(final int batchSize) {
@@ -785,7 +830,7 @@ private ImportConfig createImportConfig(final int batchSize) {
                 GenomicsDBImportConfiguration.ImportConfiguration.newBuilder();
         importConfigurationBuilder.addAllColumnPartitions(partitions);
         importConfigurationBuilder.setSizePerColumnPartition(vcfBufferSizePerSample);
-        importConfigurationBuilder.setFailIfUpdating(true && !doIncrementalImport);
+        importConfigurationBuilder.setFailIfUpdating(!doIncrementalImport);
         importConfigurationBuilder.setSegmentSize(segmentSize);
         importConfigurationBuilder.setConsolidateTiledbArrayAfterLoad(doConsolidation);
         importConfigurationBuilder.setEnableSharedPosixfsOptimizations(sharedPosixFSOptimizations);
@@ -936,7 +981,7 @@ private FeatureReader getReaderFromPath(final Path variantPath,
             /* Anonymous FeatureReader subclass that wraps returned iterators to ensure that the GVCFs do not
              * contain MNPs.
              */
-            return new FeatureReader() {
+            return new FeatureReader<>() {
                 /** Iterator that asserts that variants are not MNPs. */
                 class NoMnpIterator implements CloseableTribbleIterator {
                     private final CloseableTribbleIterator inner;
@@ -971,7 +1016,8 @@ public VariantContext next() {
                     return new NoMnpIterator(reader.query(chr, start, end));
                 }
 
-                @Override public CloseableTribbleIterator iterator() throws IOException {
+                @Override
+                public CloseableTribbleIterator iterator() throws IOException {
                     return new NoMnpIterator(reader.iterator());
                 }
             };
@@ -990,7 +1036,7 @@ public VariantContext next() {
      * @return  The workspace directory
      */
     private String overwriteCreateOrCheckWorkspace() {
-        String workspaceDir = genomicsDBGetAbsolutePath(workspace);
+        String workspaceDir = GATKGenomicsDBUtils.genomicsDBGetAbsolutePath(workspace);
         // From JavaDoc for GATKGenomicsDBUtils.createTileDBWorkspacevid
         //   returnCode = 0 : OK. If overwriteExistingWorkspace is true and the workspace exists, it is deleted first.
         //   returnCode = -1 : path was not a directory
@@ -1016,7 +1062,7 @@ private String overwriteCreateOrCheckWorkspace() {
     }
 
     static class UnableToCreateGenomicsDBWorkspace extends UserException {
-        private static final long serialVersionUID = 1L;
+        @Serial private static final long serialVersionUID = 1L;
 
         UnableToCreateGenomicsDBWorkspace(final String message){
             super(message);
@@ -1028,7 +1074,7 @@ static class UnableToCreateGenomicsDBWorkspace extends UserException {
      * dictionary (as returned by {@link #getBestAvailableSequenceDictionary})
      * to parse/verify them. Does nothing if no intervals were specified.
      */
-    protected void initializeIntervals() {
+    void initializeIntervals() {
         if (intervalArgumentCollection.intervalsSpecified()) {
             if (getIntervalsFromExistingWorkspace || doIncrementalImport) {
                 logger.warn(INCREMENTAL_WORKSPACE_ARG_LONG_NAME+" was set, so ignoring specified intervals." +
diff --git a/src/test/java/org/broadinstitute/hellbender/tools/genomicsdb/GenomicsDBImportIntegrationTest.java b/src/test/java/org/broadinstitute/hellbender/tools/genomicsdb/GenomicsDBImportIntegrationTest.java
index 17ba65831ea..f816dc3c3a3 100644
--- a/src/test/java/org/broadinstitute/hellbender/tools/genomicsdb/GenomicsDBImportIntegrationTest.java
+++ b/src/test/java/org/broadinstitute/hellbender/tools/genomicsdb/GenomicsDBImportIntegrationTest.java
@@ -101,7 +101,7 @@ public final class GenomicsDBImportIntegrationTest extends CommandLineProgramTes
     //This file was obtained from combined.gatk3.7.g.vcf.gz by dropping all the samples
     private static final String COMBINED_SITES_ONLY = largeFileTestDir + "gvcfs/combined.gatk3.7_sites_only.g.vcf.gz";
     private static final String INTERVAL_PICARD_STYLE_EXPECTED = toolsTestDir + "GenomicsDBImport/interval_expected.interval_list";
-    private static final String MULTIPLE_NON_ADJACENT_INTERVALS_THAT_WORK_WITH_COMBINE_GVCFS_PICARD_STYLE_EXPECTED = 
+    private static final String MULTIPLE_NON_ADJACENT_INTERVALS_THAT_WORK_WITH_COMBINE_GVCFS_PICARD_STYLE_EXPECTED =
             toolsTestDir + "GenomicsDBImport/multiple_non_adjacent_intervals_combine_gvcfs_expected.interval_list";
     private static final String MERGED_CONTIGS_INTERVAL_PICARD_STYLE_EXPECTED =
             toolsTestDir + "GenomicsDBImport/chr20_chr21_merged_contigs_expected.interval_list";
@@ -383,6 +383,74 @@ public void testGenomicsDbImportThrowsOnMnp() throws IOException {
         }
     }
 
+    @DataProvider
+    public Object[][] getInvalidArgsForAvoidNio(){
+        final ArgumentsBuilder baseArgs = ArgumentsBuilder.create()
+            .add(GenomicsDBImport.WORKSPACE_ARG_LONG_NAME, createTempFile())
+                .addInterval("fake")
+                .addFlag(GenomicsDBImport.AVOID_NIO);
+        return new Object[][]{
+                {baseArgs, CommandLineException.MissingArgument.class}, //no input
+                {baseArgs.copy()
+                        .addVCF("fake.vcf"), CommandLineException.class
+                }, //not allowed with variant, we shoul have some sort of mutex exception...
+                {baseArgs.copy()
+                        .add(GenomicsDBImport.SAMPLE_NAME_MAP_LONG_NAME, "fake.samplenames"), CommandLineException.MissingArgument.class
+                }, //missing header
+                {baseArgs.copy()
+                        .add(GenomicsDBImport.VCF_HEADER_OVERRIDE, "fake.vcf"), CommandLineException.MissingArgument.class
+                }, //missing input
+                {baseArgs.copy()
+                        .add(GenomicsDBImport.VCF_HEADER_OVERRIDE, "fake.vcf")
+                        .addVCF("fake.vcf"), CommandLineException.class // can't use with -V
+                }
+         };
+    }
+
+    @Test(dataProvider = "getInvalidArgsForAvoidNio")
+    public void testInvalidArgumentCombinationsWithAvoidNio(ArgumentsBuilder args, Class expectedException){
+         Assert.assertThrows(expectedException, () -> runCommandLine(args));
+    }
+
+    /*
+     * this is a test that can be run locally if you enable it and fill in the SAS token with one from
+     * https://app.terra.bio/#workspaces/axin-pipeline-testing-20230927/gatk-azure-testing
+     *
+     * it's basically an example of how to run the tool on azure
+     *
+     * note that the http url for the file azure files looks like this:
+     *
+     * https://.blob.core.windows.net//?
+     * the SAS token includes the '?' generally
+     *
+     * to restructure into an az:// link you move the username
+     * az://@blob.core.windows.new/
+     *
+     */
+    @Test(enabled = false, groups={"cloud","azure"})
+    public void testImportFromAzure(){
+
+        final String SAS_TOKEN="put a sas token in me";
+
+        final String workspace = createTempDir("genomicsdb-tests-").getAbsolutePath() + "/workspace";
+        final String sample = "NA19625";
+        final String azLocation = "az://lzb25a77f5eadb0fa72a2ae7.blob.core.windows.net/sc-62528cd7-3299-4440-8c17-10f458e589d3/NA19625.g.vcf.gz";
+        final String sampleMapText = String.format("%s\t%s\n", sample, azLocation);
+        final File sampleMappingFile = IOUtils.writeTempFile(sampleMapText, "sampleMapping", ".txt");
+
+        final ArgumentsBuilder args = ArgumentsBuilder.create()
+                .add(GenomicsDBImport.WORKSPACE_ARG_LONG_NAME, workspace)
+                .addInterval("chr20")
+                .addFlag(GenomicsDBImport.AVOID_NIO)
+                .add(GenomicsDBImport.SAMPLE_NAME_MAP_LONG_NAME, sampleMappingFile)
+                .addFlag(GenomicsDBImport.BYPASS_FEATURE_READER)
+                .add(GenomicsDBImport.VCF_HEADER_OVERRIDE, GENOMICSDB_TEST_DIR + "azureHeader.vcf");
+        Map environment = new HashMap<>(System.getenv());
+        final String sasTokenEnvVariable = "AZURE_STORAGE_SAS_TOKEN";
+        environment.put(sasTokenEnvVariable, SAS_TOKEN);
+        runToolInNewJVM(GenomicsDBImport.class.getSimpleName(), args, environment);
+    }
+
     private void testGenomicsDBImporterWithGenotypes(final List vcfInputs, final List intervals,
                                                      final String expectedCombinedVCF,
                                                       final String referenceFile) throws IOException {
@@ -408,7 +476,7 @@ private void testGenomicsDBImporterWithGenotypes(final List vcfInputs, f
                                                      final boolean testAll,
                                                      final boolean produceGTField,
                                                      final boolean sitesOnlyQuery) throws IOException {
-         testGenomicsDBImporterWithGenotypes(vcfInputs, intervals, expectedCombinedVCF, referenceFile, testAll, produceGTField, 
+         testGenomicsDBImporterWithGenotypes(vcfInputs, intervals, expectedCombinedVCF, referenceFile, testAll, produceGTField,
                  sitesOnlyQuery, false);
     }
 
@@ -456,11 +524,11 @@ private void testGenomicsDBAgainstCombineGVCFs(final List vcfInputs, fin
 
     private void testGenomicsDBAgainstCombineGVCFs(final List vcfInputs, final List intervals,
                                                    final String referenceFile, final String[] CombineGVCFArgs,
-                                                   final int numVCFReaderThreadsInImporter, final int chrsToPartitions, 
+                                                   final int numVCFReaderThreadsInImporter, final int chrsToPartitions,
                                                    final boolean useNativeReader) throws IOException {
         final String workspace = createTempDir("genomicsdb-tests-").getAbsolutePath() + "/workspace";
 
-        writeToGenomicsDB(vcfInputs, intervals, workspace, 0, false, 0, numVCFReaderThreadsInImporter, false, false, false, 
+        writeToGenomicsDB(vcfInputs, intervals, workspace, 0, false, 0, numVCFReaderThreadsInImporter, false, false, false,
                           chrsToPartitions, useNativeReader);
         checkJSONFilesAreWritten(workspace);
         for(SimpleInterval currInterval : intervals) {
@@ -504,7 +572,7 @@ public void testGenomicsDBAlleleSpecificAnnotationsInTheMiddleOfSpanningDeletion
 
     @Test
     public void testGenomicsDBNoRemapMissingToNonRef() throws IOException {
-        testGenomicsDBAgainstCombineGVCFs(Arrays.asList(COMBINEGVCFS_TEST_DIR+"NA12878.AS.NON_REF_remap_check.chr20snippet.g.vcf", 
+        testGenomicsDBAgainstCombineGVCFs(Arrays.asList(COMBINEGVCFS_TEST_DIR+"NA12878.AS.NON_REF_remap_check.chr20snippet.g.vcf",
                 COMBINEGVCFS_TEST_DIR+"NA12892.AS.chr20snippet.g.vcf"),
                 new ArrayList(Arrays.asList(new SimpleInterval("20", 10433313, 10700000))),
                 b37_reference_20_21,
@@ -671,14 +739,14 @@ private void writeToGenomicsDB(final List vcfInputs, final List vcfInputs, final List intervals, final String workspace,
-                                   final int batchSize, final Boolean useBufferSize, final int bufferSizePerSample, int threads, 
+                                   final int batchSize, final Boolean useBufferSize, final int bufferSizePerSample, int threads,
                                    final boolean mergeIntervals, final boolean overwriteWorkspace, final boolean incremental) {
-        writeToGenomicsDB(vcfInputs, intervals, workspace, batchSize, useBufferSize, bufferSizePerSample, threads, mergeIntervals, 
+        writeToGenomicsDB(vcfInputs, intervals, workspace, batchSize, useBufferSize, bufferSizePerSample, threads, mergeIntervals,
                           overwriteWorkspace, incremental, 0, false);
     }
 
     private void writeToGenomicsDB(final List vcfInputs, final List intervals, final String workspace,
-                                   final int batchSize, final Boolean useBufferSize, final int bufferSizePerSample, int threads, 
+                                   final int batchSize, final Boolean useBufferSize, final int bufferSizePerSample, int threads,
                                    final boolean mergeIntervals, final boolean overwriteWorkspace, final boolean incremental,
                                    final int chrsToPartitions, final boolean useNativeReader) {
         final ArgumentsBuilder args = new ArgumentsBuilder();
@@ -1013,7 +1081,7 @@ public Object[][] dataForTestExplicitIndicesInSampleNameMapInTheCloud() {
         final String NA19625_UNCOMPRESSED_WITH_INDEX = GVCFS_WITH_INDICES_BUCKET + "NA19625.g.vcf";
         final String NA19625_UNCOMPRESSED_NO_INDEX = GVCFS_WITHOUT_INDICES_BUCKET + "NA19625.g.vcf";
         final String NA19625_UNCOMPRESSED_INDEX = GVCF_INDICES_ONLY_BUCKET + "NA19625.g.vcf.idx";
-        
+
         return new Object[][] {
                 // All VCFs have explicit indices, samples in order, TABIX index
                 {
@@ -1371,7 +1439,7 @@ public void testIncrementalMustHaveExistingWorkspace() {
         writeToGenomicsDB(LOCAL_GVCFS, INTERVAL, workspace + "workspace2", 0, false, 0, 1, false, false, true);
     }
 
-    private void testIncrementalImport(final int stepSize, final List intervals, final String workspace, 
+    private void testIncrementalImport(final int stepSize, final List intervals, final String workspace,
                                        final int batchSize, final boolean produceGTField, final boolean useVCFCodec, final String expected,
                                        final int chrsToPartitions, final boolean useNativeReader) throws IOException {
         testIncrementalImport(stepSize, intervals, workspace, batchSize, produceGTField, useVCFCodec, expected,
@@ -1384,7 +1452,7 @@ private void testIncrementalImport(final int stepSize, final List 0 && useNativeReader));
             checkJSONFilesAreWritten(workspace);
         }
@@ -1434,7 +1502,7 @@ public void testGenomicsDBIncrementalAndBatchSize1WithNonAdjacentIntervalsNative
 
     @Test(expectedExceptions = {UserException.class}, expectedExceptionsMessageRegExp=".*must be block compressed.*")
     public void testGenomicsDBImportNativeReaderNoCompressedVcf() throws IOException {
-        testGenomicsDBImporterWithGenotypes(Arrays.asList(NA_12878_PHASED), MULTIPLE_INTERVALS, NA_12878_PHASED, b37_reference_20_21, 
+        testGenomicsDBImporterWithGenotypes(Arrays.asList(NA_12878_PHASED), MULTIPLE_INTERVALS, NA_12878_PHASED, b37_reference_20_21,
                 false, true, false, true);
     }
 
@@ -1448,14 +1516,14 @@ public void testGenomicsDBIncrementalAndBatchSize1WithNonAdjacentIntervalsMergeC
     @Test
     public void testGenomicsDBIncrementalAndBatchSize2() throws IOException {
         final String workspace = createTempDir("genomicsdb-incremental-tests").getAbsolutePath() + "/workspace";
-        testIncrementalImport(2, MULTIPLE_INTERVALS_THAT_WORK_WITH_COMBINE_GVCFS, workspace, 2, true, false, 
+        testIncrementalImport(2, MULTIPLE_INTERVALS_THAT_WORK_WITH_COMBINE_GVCFS, workspace, 2, true, false,
                               COMBINED_WITH_GENOTYPES, 0, false);
     }
 
     @Test
     public void testGenomicsDBMultipleIncrementalImports() throws IOException {
         final String workspace = createTempDir("genomicsdb-incremental-tests").getAbsolutePath() + "/workspace";
-        testIncrementalImport(1, MULTIPLE_INTERVALS_THAT_WORK_WITH_COMBINE_GVCFS, workspace, 2, true, true, 
+        testIncrementalImport(1, MULTIPLE_INTERVALS_THAT_WORK_WITH_COMBINE_GVCFS, workspace, 2, true, true,
                               COMBINED_WITH_GENOTYPES, 0, false);
     }
 
diff --git a/src/test/java/org/broadinstitute/hellbender/tools/spark/PileupSparkIntegrationTest.java b/src/test/java/org/broadinstitute/hellbender/tools/spark/PileupSparkIntegrationTest.java
index 656000c25d9..98995ad319a 100644
--- a/src/test/java/org/broadinstitute/hellbender/tools/spark/PileupSparkIntegrationTest.java
+++ b/src/test/java/org/broadinstitute/hellbender/tools/spark/PileupSparkIntegrationTest.java
@@ -25,15 +25,15 @@ public Object[][] shuffleParameters() {
         return new Object[][] { { false }, { true } };
     }
 
-    private File createTempFile() throws IOException {
+    private File createAndDeleteTempFile() {
         final File out = IOUtils.createTempFile("out", ".txt");
         out.delete();
         return out;
     }
-
+    
     @Test(dataProvider = "shuffle")
     public void testSimplePileup(boolean useShuffle) throws Exception {
-        final File out = createTempFile();
+        final File out = createAndDeleteTempFile();
         final ArgumentsBuilder args = new ArgumentsBuilder();
         args.addRaw("--input");
         args.addRaw(NA12878_20_21_WGS_bam);
@@ -53,7 +53,7 @@ public void testSimplePileup(boolean useShuffle) throws Exception {
 
     @Test(dataProvider = "shuffle")
     public void testVerbosePileup(boolean useShuffle) throws Exception {
-        final File out = createTempFile();
+        final File out = createAndDeleteTempFile();
         final ArgumentsBuilder args = new ArgumentsBuilder();
         args.addRaw("--input");
         args.addRaw(NA12878_20_21_WGS_bam);
@@ -74,7 +74,7 @@ public void testVerbosePileup(boolean useShuffle) throws Exception {
 
     @Test(dataProvider = "shuffle")
     public void testFeaturesPileup(boolean useShuffle) throws Exception {
-        final File out = createTempFile();
+        final File out = createAndDeleteTempFile();
         final ArgumentsBuilder args = new ArgumentsBuilder();
         args.addRaw("--input");
         args.addRaw(NA12878_20_21_WGS_bam);
@@ -95,7 +95,7 @@ public void testFeaturesPileup(boolean useShuffle) throws Exception {
 
     @Test(dataProvider = "shuffle")
     public void testInsertLengthPileup(boolean useShuffle) throws Exception {
-        final File out = createTempFile();
+        final File out = createAndDeleteTempFile();
         final ArgumentsBuilder args = new ArgumentsBuilder();
         args.addRaw("--input");
         args.addRaw(NA12878_20_21_WGS_bam);
@@ -128,7 +128,7 @@ public void testFeaturesPileupHdfs(boolean useShuffle) throws Exception {
             cluster.getFileSystem().copyFromLocalFile(new Path(dbsnp_138_b37_20_21_vcf), vcfPath);
             cluster.getFileSystem().copyFromLocalFile(new Path(dbsnp_138_b37_20_21_vcf + ".idx"), idxPath);
 
-            final File out = createTempFile();
+            final File out = createAndDeleteTempFile();
             final ArgumentsBuilder args = new ArgumentsBuilder();
             args.addRaw("--input");
             args.addRaw(NA12878_20_21_WGS_bam);
diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/GenomicsDBImport/azureHeader.vcf b/src/test/resources/org/broadinstitute/hellbender/tools/GenomicsDBImport/azureHeader.vcf
new file mode 100644
index 00000000000..6c0a9fcb965
--- /dev/null
+++ b/src/test/resources/org/broadinstitute/hellbender/tools/GenomicsDBImport/azureHeader.vcf
@@ -0,0 +1,95 @@
+##fileformat=VCFv4.2
+##ALT=
+##FILTER=
+##FORMAT=
+##FORMAT=
+##FORMAT=
+##FORMAT=
+##FORMAT=
+##FORMAT=
+##FORMAT=
+##FORMAT=
+##FORMAT=
+##GATKCommandLine.HaplotypeCaller=
+##GVCFBlock0-1=minGQ=0(inclusive),maxGQ=1(exclusive)
+##GVCFBlock1-2=minGQ=1(inclusive),maxGQ=2(exclusive)
+##GVCFBlock10-11=minGQ=10(inclusive),maxGQ=11(exclusive)
+##GVCFBlock11-12=minGQ=11(inclusive),maxGQ=12(exclusive)
+##GVCFBlock12-13=minGQ=12(inclusive),maxGQ=13(exclusive)
+##GVCFBlock13-14=minGQ=13(inclusive),maxGQ=14(exclusive)
+##GVCFBlock14-15=minGQ=14(inclusive),maxGQ=15(exclusive)
+##GVCFBlock15-16=minGQ=15(inclusive),maxGQ=16(exclusive)
+##GVCFBlock16-17=minGQ=16(inclusive),maxGQ=17(exclusive)
+##GVCFBlock17-18=minGQ=17(inclusive),maxGQ=18(exclusive)
+##GVCFBlock18-19=minGQ=18(inclusive),maxGQ=19(exclusive)
+##GVCFBlock19-20=minGQ=19(inclusive),maxGQ=20(exclusive)
+##GVCFBlock2-3=minGQ=2(inclusive),maxGQ=3(exclusive)
+##GVCFBlock20-21=minGQ=20(inclusive),maxGQ=21(exclusive)
+##GVCFBlock21-22=minGQ=21(inclusive),maxGQ=22(exclusive)
+##GVCFBlock22-23=minGQ=22(inclusive),maxGQ=23(exclusive)
+##GVCFBlock23-24=minGQ=23(inclusive),maxGQ=24(exclusive)
+##GVCFBlock24-25=minGQ=24(inclusive),maxGQ=25(exclusive)
+##GVCFBlock25-26=minGQ=25(inclusive),maxGQ=26(exclusive)
+##GVCFBlock26-27=minGQ=26(inclusive),maxGQ=27(exclusive)
+##GVCFBlock27-28=minGQ=27(inclusive),maxGQ=28(exclusive)
+##GVCFBlock28-29=minGQ=28(inclusive),maxGQ=29(exclusive)
+##GVCFBlock29-30=minGQ=29(inclusive),maxGQ=30(exclusive)
+##GVCFBlock3-4=minGQ=3(inclusive),maxGQ=4(exclusive)
+##GVCFBlock30-31=minGQ=30(inclusive),maxGQ=31(exclusive)
+##GVCFBlock31-32=minGQ=31(inclusive),maxGQ=32(exclusive)
+##GVCFBlock32-33=minGQ=32(inclusive),maxGQ=33(exclusive)
+##GVCFBlock33-34=minGQ=33(inclusive),maxGQ=34(exclusive)
+##GVCFBlock34-35=minGQ=34(inclusive),maxGQ=35(exclusive)
+##GVCFBlock35-36=minGQ=35(inclusive),maxGQ=36(exclusive)
+##GVCFBlock36-37=minGQ=36(inclusive),maxGQ=37(exclusive)
+##GVCFBlock37-38=minGQ=37(inclusive),maxGQ=38(exclusive)
+##GVCFBlock38-39=minGQ=38(inclusive),maxGQ=39(exclusive)
+##GVCFBlock39-40=minGQ=39(inclusive),maxGQ=40(exclusive)
+##GVCFBlock4-5=minGQ=4(inclusive),maxGQ=5(exclusive)
+##GVCFBlock40-41=minGQ=40(inclusive),maxGQ=41(exclusive)
+##GVCFBlock41-42=minGQ=41(inclusive),maxGQ=42(exclusive)
+##GVCFBlock42-43=minGQ=42(inclusive),maxGQ=43(exclusive)
+##GVCFBlock43-44=minGQ=43(inclusive),maxGQ=44(exclusive)
+##GVCFBlock44-45=minGQ=44(inclusive),maxGQ=45(exclusive)
+##GVCFBlock45-46=minGQ=45(inclusive),maxGQ=46(exclusive)
+##GVCFBlock46-47=minGQ=46(inclusive),maxGQ=47(exclusive)
+##GVCFBlock47-48=minGQ=47(inclusive),maxGQ=48(exclusive)
+##GVCFBlock48-49=minGQ=48(inclusive),maxGQ=49(exclusive)
+##GVCFBlock49-50=minGQ=49(inclusive),maxGQ=50(exclusive)
+##GVCFBlock5-6=minGQ=5(inclusive),maxGQ=6(exclusive)
+##GVCFBlock50-51=minGQ=50(inclusive),maxGQ=51(exclusive)
+##GVCFBlock51-52=minGQ=51(inclusive),maxGQ=52(exclusive)
+##GVCFBlock52-53=minGQ=52(inclusive),maxGQ=53(exclusive)
+##GVCFBlock53-54=minGQ=53(inclusive),maxGQ=54(exclusive)
+##GVCFBlock54-55=minGQ=54(inclusive),maxGQ=55(exclusive)
+##GVCFBlock55-56=minGQ=55(inclusive),maxGQ=56(exclusive)
+##GVCFBlock56-57=minGQ=56(inclusive),maxGQ=57(exclusive)
+##GVCFBlock57-58=minGQ=57(inclusive),maxGQ=58(exclusive)
+##GVCFBlock58-59=minGQ=58(inclusive),maxGQ=59(exclusive)
+##GVCFBlock59-60=minGQ=59(inclusive),maxGQ=60(exclusive)
+##GVCFBlock6-7=minGQ=6(inclusive),maxGQ=7(exclusive)
+##GVCFBlock60-70=minGQ=60(inclusive),maxGQ=70(exclusive)
+##GVCFBlock7-8=minGQ=7(inclusive),maxGQ=8(exclusive)
+##GVCFBlock70-80=minGQ=70(inclusive),maxGQ=80(exclusive)
+##GVCFBlock8-9=minGQ=8(inclusive),maxGQ=9(exclusive)
+##GVCFBlock80-90=minGQ=80(inclusive),maxGQ=90(exclusive)
+##GVCFBlock9-10=minGQ=9(inclusive),maxGQ=10(exclusive)
+##GVCFBlock90-99=minGQ=90(inclusive),maxGQ=99(exclusive)
+##GVCFBlock99-2147483647=minGQ=99(inclusive),maxGQ=2147483647(exclusive)
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##contig=
+##contig=
+#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	NA19625
diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/GenomicsDBImport/azureSampleNameMap.txt b/src/test/resources/org/broadinstitute/hellbender/tools/GenomicsDBImport/azureSampleNameMap.txt
new file mode 100644
index 00000000000..6d2f0566d63
--- /dev/null
+++ b/src/test/resources/org/broadinstitute/hellbender/tools/GenomicsDBImport/azureSampleNameMap.txt
@@ -0,0 +1 @@
+NA19625	az://sc-62528cd7-3299-4440-8c17-10f458e589d3@lzb25a77f5eadb0fa72a2ae7.blob.core.windows.net/NA19625.g.vcf.gz
\ No newline at end of file
diff --git a/src/testUtils/java/org/broadinstitute/hellbender/testutils/ArgumentsBuilder.java b/src/testUtils/java/org/broadinstitute/hellbender/testutils/ArgumentsBuilder.java
index 289cae67008..f343ec74c55 100644
--- a/src/testUtils/java/org/broadinstitute/hellbender/testutils/ArgumentsBuilder.java
+++ b/src/testUtils/java/org/broadinstitute/hellbender/testutils/ArgumentsBuilder.java
@@ -24,6 +24,15 @@ public final class ArgumentsBuilder {
 
     public ArgumentsBuilder(){}
 
+    /**
+     * static factory to allow fluent style creation
+     * create().add()...
+     * @return new ArgumentsBuilder
+     */
+    public static ArgumentsBuilder create(){
+        return new ArgumentsBuilder();
+    }
+
     public ArgumentsBuilder(Object[] args){
         for (Object arg: args){
             if (arg instanceof String){
@@ -34,6 +43,22 @@ public ArgumentsBuilder(Object[] args){
         }
     }
 
+    /**
+     * Concatenate the arguments from other onto the end of this builder
+     * @return this builder combined with other
+     */
+    public ArgumentsBuilder concat(ArgumentsBuilder other){
+        this.args.addAll(other.args);
+        return this;
+    }
+
+    /**
+     * @return a copy of this builder
+     */
+    public ArgumentsBuilder copy(){
+        return ArgumentsBuilder.create().concat(this);
+    }
+
     /**
      * Add a string to the arguments list
      * Strings are processed specially, they are reformatted to match the new unix style arguments
diff --git a/src/testUtils/java/org/broadinstitute/hellbender/testutils/BaseTest.java b/src/testUtils/java/org/broadinstitute/hellbender/testutils/BaseTest.java
index 7eadf5aa2a1..43581e2b330 100644
--- a/src/testUtils/java/org/broadinstitute/hellbender/testutils/BaseTest.java
+++ b/src/testUtils/java/org/broadinstitute/hellbender/testutils/BaseTest.java
@@ -88,6 +88,19 @@ public static void runProcess(final ProcessController processController, final S
      * @param arguments arguments to provide to the tool
      */
     public static void runToolInNewJVM(String toolName, ArgumentsBuilder arguments){
+        runToolInNewJVM(toolName, arguments, System.getenv());
+    }
+
+    /**
+     * Spawn a new jvm with the same classpath as this one and run a gatk CommandLineProgram
+     * This is useful for running tests that require changing static state that is not allowed to change during
+     * a tool run but which needs to be changed to test some condition.
+     *
+     * @param toolName CommandLineProgram to run
+     * @param arguments arguments to provide to the tool
+     * @param environment a map of key-value pairs which will be used as to set the System environment
+     */
+    public static void runToolInNewJVM(String toolName, ArgumentsBuilder arguments, Map environment){
         final String javaHome = System.getProperty("java.home");
         final String javaBin = javaHome + File.separator + "bin" + File.separator + "java";
         final String classpath = System.getProperty("java.class.path");;
@@ -97,8 +110,8 @@ public static void runToolInNewJVM(String toolName, ArgumentsBuilder arguments){
                 Main.class.getName(),
                 toolName));
         baseCommand.addAll(arguments.getArgsList());
-
-        runProcess(ProcessController.getThreadLocal(), baseCommand.toArray(new String[0]));
+        runProcess(ProcessController.getThreadLocal(), baseCommand.toArray(new String[0]), environment,
+                "Java exited with non-zero value. Command: "+ String.join(" ",baseCommand) + "\n");
     }
 
     @BeforeSuite
@@ -294,6 +307,13 @@ public static File createTempFile(final String name, final String extension) {
         return IOUtils.createTempFile(name, extension);
     }
 
+    /**
+     * Create a temp file with an arbitrary name and extension
+     */
+    public static File createTempFile(){
+        return createTempFile("default", ".tmp");
+    }
+
     /**
      * Creates a temp path that will be deleted on exit after tests are complete.
      *
@@ -346,6 +366,15 @@ public static File createTempDir(final String prefix){
         return IOUtils.createTempDir(prefix);
     }
 
+    /**
+     * Creates an empty temp directory which will be deleted on exit after tests are complete
+     *
+     * @return an empty directory will be deleted after the program exits
+     */
+    public static File createTempDir(){
+        return createTempDir("tmp");
+    }
+
     /**
      * Log this message so that it shows up inline during output as well as in html reports
      */
diff --git a/src/testUtils/java/org/broadinstitute/hellbender/testutils/CommandLineProgramTester.java b/src/testUtils/java/org/broadinstitute/hellbender/testutils/CommandLineProgramTester.java
index 0fd63c50a0f..509aed3cc0a 100644
--- a/src/testUtils/java/org/broadinstitute/hellbender/testutils/CommandLineProgramTester.java
+++ b/src/testUtils/java/org/broadinstitute/hellbender/testutils/CommandLineProgramTester.java
@@ -9,6 +9,7 @@
 import java.util.ArrayList;
 import java.util.Arrays;
 import java.util.List;
+import java.util.Map;
 
 /**
  * Utility interface for CommandLine Program testing. API users that have their own Main implementation

From e29cbc3c240d5bea4c600d4d90c184e6babfbe78 Mon Sep 17 00:00:00 2001
From: droazen 
Date: Mon, 11 Dec 2023 13:05:05 -0500
Subject: [PATCH 16/64] Disable line-by-line codecov comments (#8613)

---
 codecov.yml | 4 ++++
 1 file changed, 4 insertions(+)

diff --git a/codecov.yml b/codecov.yml
index 734831e7d4e..6941ed6e8d6 100644
--- a/codecov.yml
+++ b/codecov.yml
@@ -31,3 +31,7 @@ comment:
   branches: null
   behavior: default
   after_n_builds: 8 # Wait until all 8 of the test suite jacoco test builds have been uploaded before writing a comment to the pr (no more incomplete coverage report emails)
+
+# Disable line-by-line codecov comments in the github diff page
+github_checks:
+  annotations: false

From 0b185790933ba238ebae85f9eeca29aa1b041a04 Mon Sep 17 00:00:00 2001
From: Louis Bergelson 
Date: Mon, 11 Dec 2023 16:56:19 -0500
Subject: [PATCH 17/64] Support for custom ploidy regions in HaplotypeCaller
 (#8609)

For having variable ploidy in different regions, like making haploid calls outside the PAR on chrX or chrY,
there is now a --ploidy-regions flag. The -ploidy flag sets the default ploidy to use everywhere, and --ploidy-regions
should be a .bed or .interval_list with "name" column containing the desired ploidy to use in that region
when genotyping. Note that variants near the boundary may not have the matching ploidy since the ploidy used will be determined using the following precedence:

* ploidy given in --ploidy-regions for all intervals overlapping the active region when calling your variant
  with ties broken by using largest ploidy); note ploidy interval may only overlap the active region and determine
  the ploidy of your variant even if the end coordinate written for your variant lies outside the given region
* ploidy given via global -ploidy flag
* ploidy determined by the default global built-in constant for humans (2).

---------

Co-authored-by: Ty Kay 
Co-authored-by: rickymagner <81349869+rickymagner@users.noreply.github.com>
---
 .../formats/records/SimpleCount.java          |  14 +-
 .../haplotypecaller/HaplotypeCaller.java      |  15 +
 .../HaplotypeCallerArgumentCollection.java    |  17 +-
 .../HaplotypeCallerEngine.java                | 161 +++++++++--
 .../RampedHaplotypeCallerEngine.java          |   8 +-
 .../HaplotypeCallerIntegrationTest.java       | 119 ++++++++
 .../expected.testPloidyRegions.vcf            | 273 ++++++++++++++++++
 .../testMismatchPloidyRegions.bed             |   3 +
 .../testNegativePloidyRegions.bed             |   3 +
 .../testNonIntegerPloidyRegions.bed           |   3 +
 .../haplotypecaller/testPloidyRegions.bed     |   4 +
 11 files changed, 598 insertions(+), 22 deletions(-)
 create mode 100644 src/test/resources/org/broadinstitute/hellbender/tools/haplotypecaller/expected.testPloidyRegions.vcf
 create mode 100644 src/test/resources/org/broadinstitute/hellbender/tools/haplotypecaller/testMismatchPloidyRegions.bed
 create mode 100644 src/test/resources/org/broadinstitute/hellbender/tools/haplotypecaller/testNegativePloidyRegions.bed
 create mode 100644 src/test/resources/org/broadinstitute/hellbender/tools/haplotypecaller/testNonIntegerPloidyRegions.bed
 create mode 100644 src/test/resources/org/broadinstitute/hellbender/tools/haplotypecaller/testPloidyRegions.bed

diff --git a/src/main/java/org/broadinstitute/hellbender/tools/copynumber/formats/records/SimpleCount.java b/src/main/java/org/broadinstitute/hellbender/tools/copynumber/formats/records/SimpleCount.java
index 5d6521850b5..bdf70dc5ccf 100644
--- a/src/main/java/org/broadinstitute/hellbender/tools/copynumber/formats/records/SimpleCount.java
+++ b/src/main/java/org/broadinstitute/hellbender/tools/copynumber/formats/records/SimpleCount.java
@@ -2,6 +2,8 @@
 
 import htsjdk.samtools.util.Locatable;
 import htsjdk.tribble.Feature;
+import htsjdk.tribble.NamedFeature;
+import org.broadinstitute.hellbender.exceptions.UserException;
 import org.broadinstitute.hellbender.utils.SimpleInterval;
 import org.broadinstitute.hellbender.utils.Utils;
 import org.broadinstitute.hellbender.utils.param.ParamUtils;
@@ -19,7 +21,17 @@ public class SimpleCount implements Locatable, Feature {
     public SimpleCount(final SimpleInterval interval,
                        final int count) {
         this.interval = Utils.nonNull(interval);
-        this.count = ParamUtils.isPositiveOrZero(count, "Can't construct SimpleCount with negative count.");
+        this.count = ParamUtils.isPositiveOrZero(count, "Can't construct SimpleCount with negative count at " + interval.getContig() + ":" + interval.getStart() + "-" + interval.getEnd() + ".");
+    }
+
+    public SimpleCount(final NamedFeature namedFeature) {
+        try {
+            int count = Integer.parseInt(namedFeature.getName());
+            this.interval = new SimpleInterval(namedFeature);
+            this.count = ParamUtils.isPositiveOrZero(count, "Can't construct SimpleCount with negative count at " + namedFeature.getContig() + ":" + namedFeature.getStart() + "-" + namedFeature.getEnd() + ".");
+        } catch (NumberFormatException e) {
+            throw new IllegalArgumentException("Error parsing name into integer for feature at " + namedFeature.getContig() + ":" + namedFeature.getStart() + "-" + namedFeature.getEnd() + ".");
+        }
     }
 
     @Override
diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/HaplotypeCaller.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/HaplotypeCaller.java
index f504d400b13..557e7f0add9 100644
--- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/HaplotypeCaller.java
+++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/HaplotypeCaller.java
@@ -127,6 +127,21 @@
  * argument. Note however that very high ploidies (such as are encountered in large pooled experiments) may cause
  * performance challenges including excessive slowness. We are working on resolving these limitations.
    
  *
+ * 
    For having variable ploidy in different regions, like making haploid calls outside the PAR on chrX or chrY,
+ * see the --ploidy-regions flag. The -ploidy flag sets the default ploidy to use everywhere, and --ploidy-regions
+ * should be a .bed or .interval_list with "name" column containing the desired ploidy to use in that region
+ * when genotyping. Note that variants near the boundary may not have the matching ploidy since the ploidy used will
+ * be determined using the following precedence: 
    
+ * 
      
+ *     
    1. ploidy given in --ploidy-regions for all intervals overlapping the active region when calling your variant
+ *     (with ties broken by using largest ploidy); note ploidy interval may only overlap the active region and determine
+ *     the ploidy of your variant even if the end coordinate written for your variant lies outside the given region;
      2. 
+ *     
    2. ploidy given via global -ploidy flag;
      3. 
+ *     
    3. ploidy determined by the default global built-in constant for humans (2).
      4. 
+ * 
    
+ *
+ * 
    Coordinates for the PAR for CRCh38 can be found here.
    
+ *
  * 
    Additional Notes
    
  * 
      
  *     
    • When working with PCR-free data, be sure to set `-pcr_indel_model NONE` (see argument below).
      • 
diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/HaplotypeCallerArgumentCollection.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/HaplotypeCallerArgumentCollection.java
index 7ab58d73264..f818659bb5e 100644
--- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/HaplotypeCallerArgumentCollection.java
+++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/HaplotypeCallerArgumentCollection.java
@@ -1,7 +1,10 @@
 package org.broadinstitute.hellbender.tools.walkers.haplotypecaller;
 
+import htsjdk.tribble.NamedFeature;
 import htsjdk.variant.variantcontext.VariantContext;
+import org.apache.arrow.util.VisibleForTesting;
 import org.apache.commons.lang3.ArrayUtils;
+import org.apache.commons.lang3.SerializationUtils;
 import org.broadinstitute.barclay.argparser.Advanced;
 import org.broadinstitute.barclay.argparser.Argument;
 import org.broadinstitute.barclay.argparser.ArgumentCollection;
@@ -9,6 +12,7 @@
 import org.broadinstitute.hellbender.cmdline.ReadFilterArgumentDefinitions;
 import org.broadinstitute.hellbender.cmdline.StandardArgumentDefinitions;
 import org.broadinstitute.hellbender.cmdline.argumentcollections.DbsnpArgumentCollection;
+import org.broadinstitute.hellbender.engine.FeatureDataSource;
 import org.broadinstitute.hellbender.engine.FeatureInput;
 import org.broadinstitute.hellbender.engine.GATKPath;
 import org.broadinstitute.hellbender.engine.spark.AssemblyRegionArgumentCollection;
@@ -23,9 +27,11 @@
 /**
  * Set of arguments for the {@link HaplotypeCallerEngine}
  */
-public class HaplotypeCallerArgumentCollection extends AssemblyBasedCallerArgumentCollection implements Serializable{
+public class HaplotypeCallerArgumentCollection extends AssemblyBasedCallerArgumentCollection implements Serializable {
     private static final long serialVersionUID = 1L;
 
+    public static final String PLOIDY_REGIONS_NAME = "ploidy-regions";
+
     public static final String GQ_BAND_LONG_NAME = "gvcf-gq-bands";
     public static final String GQ_BAND_SHORT_NAME = "GQB";
     public static final String DO_NOT_CORRECT_OVERLAPPING_BASE_QUALITIES_LONG_NAME = "do-not-correct-overlapping-quality";
@@ -61,6 +67,9 @@ protected ReadThreadingAssemblerArgumentCollection getReadThreadingAssemblerArgu
         return new HaplotypeCallerReadThreadingAssemblerArgumentCollection();
     }
 
+    @Argument(fullName = PLOIDY_REGIONS_NAME, shortName = PLOIDY_REGIONS_NAME, doc = "Interval file with column specifying desired ploidy for genotyping models. Overrides default ploidy and user-provided --ploidy argument in specific regions.", optional = true)
+    public FeatureInput ploidyRegions = null;
+
     /**
      * You can use this argument to specify that HC should process a single sample out of a multisample BAM file. This
      * is especially useful if your samples are all in the same file but you need to run them individually through HC
@@ -312,6 +321,12 @@ boolean isFlowBasedCallingMode() {
         return flowMode != FlowMode.NONE;
     }
 
+    // Copy method used to create new hcArgs with same fields except input ploidy model
+    public HaplotypeCallerArgumentCollection copyWithNewPloidy(int ploidy) {
+        HaplotypeCallerArgumentCollection newArgsWithNewPloidy = SerializationUtils.clone(this);
+        newArgsWithNewPloidy.standardArgs.genotypeArgs.samplePloidy = ploidy;
+        return newArgsWithNewPloidy;
+    }
 
     /**
      * the different flow modes, in terms of their parameters and their values
diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/HaplotypeCallerEngine.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/HaplotypeCallerEngine.java
index 71f6d64ede7..9e09eeba8a9 100644
--- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/HaplotypeCallerEngine.java
+++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/HaplotypeCallerEngine.java
@@ -3,7 +3,10 @@
 import htsjdk.samtools.SAMFileHeader;
 import htsjdk.samtools.SAMSequenceDictionary;
 import htsjdk.samtools.reference.ReferenceSequenceFile;
+import htsjdk.samtools.util.Locatable;
+import htsjdk.samtools.util.OverlapDetector;
 import htsjdk.samtools.util.RuntimeIOException;
+import htsjdk.tribble.NamedFeature;
 import htsjdk.variant.variantcontext.*;
 import htsjdk.variant.variantcontext.writer.Options;
 import htsjdk.variant.variantcontext.writer.VariantContextWriter;
@@ -20,12 +23,15 @@
 import org.broadinstitute.hellbender.engine.filters.WellformedReadFilter;
 import org.broadinstitute.hellbender.engine.spark.AssemblyRegionArgumentCollection;
 import org.broadinstitute.hellbender.exceptions.UserException;
+import org.broadinstitute.hellbender.tools.copynumber.formats.records.SimpleCount;
 import org.broadinstitute.hellbender.tools.walkers.annotator.*;
 import org.broadinstitute.hellbender.tools.walkers.genotyper.GenotypeAssignmentMethod;
+import org.broadinstitute.hellbender.tools.walkers.genotyper.GenotypingEngine;
 import org.broadinstitute.hellbender.tools.walkers.genotyper.MinimalGenotypingEngine;
 import org.broadinstitute.hellbender.tools.walkers.genotyper.OutputMode;
 import org.broadinstitute.hellbender.tools.walkers.genotyper.StandardCallerArgumentCollection;
 import org.broadinstitute.hellbender.tools.walkers.haplotypecaller.readthreading.ReadThreadingAssembler;
+import org.broadinstitute.hellbender.utils.IntervalUtils;
 import org.broadinstitute.hellbender.utils.fasta.CachingIndexedFastaSequenceFile;
 import org.broadinstitute.hellbender.utils.haplotype.Event;
 import org.broadinstitute.hellbender.utils.pileup.PileupBasedAlleles;
@@ -83,8 +89,31 @@ public class HaplotypeCallerEngine implements AssemblyRegionEvaluator {
 
     protected final OutputStreamWriter assemblyDebugOutStream;
 
-    // the genotyping engine for the isActive() determination
-    private MinimalGenotypingEngine activeRegionEvaluationGenotyperEngine = null;
+    /**
+     * List of interval file entries including regions and custom ploidy values to apply in that region.
+     */
+    protected final List ploidyRegions = new ArrayList<>();
+
+    /**
+     * An OverlapDetector object for checking whether region overlaps given ploidyRegions.
+     */
+    protected final OverlapDetector ploidyRegionsOverlapDetector;
+
+    /**
+     * List of all custom ploidies provided by user
+     */
+    private final LinkedHashSet allCustomPloidies;
+
+    /**
+     * The default genotyping engine for the isActive() determination
+     */
+    private MinimalGenotypingEngine defaultActiveRegionEvaluationGenotyperEngine = null;
+
+    /**
+     * Map of user-provided ploidy values to corresponding active region genotyper. Values are checked as valid Integers during
+     * initialization, but Strings are used as keys to avoid parsing repeatedly during runtime.
+     */
+    private final HashMap ploidyToActiveEvaluationGenotyper = new HashMap<>();
 
     protected ReadThreadingAssembler assemblyEngine = null;
 
@@ -93,7 +122,16 @@ public class HaplotypeCallerEngine implements AssemblyRegionEvaluator {
     // If we are in PDHMM mode we need to hold onto two likelihoods engines for the fallback
     private ReadLikelihoodCalculationEngine pdhmmLikelihoodCalculationEngine = null;
 
-    protected HaplotypeCallerGenotypingEngine genotypingEngine = null;
+    /**
+     * The default genotyping engine to use for actual variant calling and genotyping in an active region.
+     */
+    protected HaplotypeCallerGenotypingEngine defaultGenotypingEngine = null;
+
+    /**
+     * Map of user-provided ploidy values to corresponding genotyper. Values are checked as valid Integers during
+     * initialization, but Strings are used as keys to avoid parsing repeatedly during runtime.
+     */
+    protected final HashMap ploidyToGenotyperMap = new HashMap<>();
 
     private VariantAnnotatorEngine annotationEngine = null;
 
@@ -163,7 +201,7 @@ public class HaplotypeCallerEngine implements AssemblyRegionEvaluator {
     /**
      * Create and initialize a new HaplotypeCallerEngine given a collection of HaplotypeCaller arguments, a reads header,
      * and a reference file
-     *  @param hcArgs command-line arguments for the HaplotypeCaller
+     * @param hcArgs command-line arguments for the HaplotypeCaller
      * @param assemblyRegionArgs
      * @param createBamOutIndex true to create an index file for the bamout
      * @param createBamOutMD5 true to create an md5 file for the bamout
@@ -196,6 +234,21 @@ public HaplotypeCallerEngine(final HaplotypeCallerArgumentCollection hcArgs, Ass
             HaplotypeCallerGenotypingDebugger.initialize(hcArgs.genotyperDebugOutStream);
         }
 
+        // Parse the user provided custom ploidy regions into ploidyRegions object containing SimpleCounts
+        if (this.hcArgs.ploidyRegions != null) {
+            FeatureDataSource ploidyDataSource = new FeatureDataSource<>(this.hcArgs.ploidyRegions, FeatureDataSource.DEFAULT_QUERY_LOOKAHEAD_BASES, NamedFeature.class);
+            ploidyDataSource.forEach(r -> this.ploidyRegions.add(new SimpleCount(r)));
+        }
+
+        for (SimpleCount region : this.ploidyRegions) {
+            if (!IntervalUtils.intervalIsOnDictionaryContig(region.getInterval(), readsHeader.getSequenceDictionary())) {
+                throw new UserException("Invalid region provided for --ploidy-regions at " + region.getContig() + ":" + region.getStart() + "-" + region.getEnd() + ". Contig name or endpoint doesn't match read sequence dictionary.");
+            }
+        }
+
+        this.ploidyRegionsOverlapDetector = OverlapDetector.create(this.ploidyRegions);
+        this.allCustomPloidies = this.ploidyRegions.stream().map(SimpleCount::getCount).collect(Collectors.toCollection(LinkedHashSet::new));
+
         trimmer = new AssemblyRegionTrimmer(assemblyRegionArgs, readsHeader.getSequenceDictionary());
         initialize(createBamOutIndex, createBamOutMD5);
     }
@@ -242,8 +295,16 @@ private void initialize(boolean createBamOutIndex, final boolean createBamOutMD5
 
         initializeActiveRegionEvaluationGenotyperEngine();
 
-        genotypingEngine = new HaplotypeCallerGenotypingEngine(hcArgs, samplesList, ! hcArgs.doNotRunPhysicalPhasing, hcArgs.applyBQD);
-        genotypingEngine.setAnnotationEngine(annotationEngine);
+        defaultGenotypingEngine = new HaplotypeCallerGenotypingEngine(hcArgs, samplesList, ! hcArgs.doNotRunPhysicalPhasing, hcArgs.applyBQD);
+        defaultGenotypingEngine.setAnnotationEngine(annotationEngine);
+
+        // Create other custom genotyping engines if user provided ploidyRegions
+        for (final int ploidy : this.allCustomPloidies) {
+            HaplotypeCallerArgumentCollection newPloidyHcArgs = hcArgs.copyWithNewPloidy(ploidy);
+            HaplotypeCallerGenotypingEngine newGenotypingEngine = new HaplotypeCallerGenotypingEngine(newPloidyHcArgs, samplesList, ! hcArgs.doNotRunPhysicalPhasing, hcArgs.applyBQD);
+            newGenotypingEngine.setAnnotationEngine(annotationEngine);
+            this.ploidyToGenotyperMap.put(ploidy, newGenotypingEngine);
+        }
 
         boolean isFlowBased = (hcArgs.likelihoodArgs.likelihoodEngineImplementation == ReadLikelihoodCalculationEngine.Implementation.FlowBased)
                 || (hcArgs.likelihoodArgs.likelihoodEngineImplementation == ReadLikelihoodCalculationEngine.Implementation.FlowBasedHMM);
@@ -381,8 +442,18 @@ private void initializeActiveRegionEvaluationGenotyperEngine() {
         // Seems that at least with some test data we can lose genuine haploid variation if we use ploidy == 1
         activeRegionArgs.genotypeArgs.samplePloidy = Math.max(MINIMUM_PUTATIVE_PLOIDY_FOR_ACTIVE_REGION_DISCOVERY, hcArgs.standardArgs.genotypeArgs.samplePloidy);
 
-        activeRegionEvaluationGenotyperEngine = new MinimalGenotypingEngine(activeRegionArgs, samplesList);
-        activeRegionEvaluationGenotyperEngine.setLogger(logger);
+        defaultActiveRegionEvaluationGenotyperEngine = new MinimalGenotypingEngine(activeRegionArgs, samplesList);
+        defaultActiveRegionEvaluationGenotyperEngine.setLogger(logger);
+
+        // If custom ploidyRegions provided, create corresponding map for active region determination genotyper
+        for (final int ploidy : this.allCustomPloidies) {
+            StandardCallerArgumentCollection newPloidyActiveArgs = new StandardCallerArgumentCollection();
+            newPloidyActiveArgs.copyStandardCallerArgsFrom(activeRegionArgs);
+            newPloidyActiveArgs.genotypeArgs.samplePloidy = Math.max(MINIMUM_PUTATIVE_PLOIDY_FOR_ACTIVE_REGION_DISCOVERY, ploidy);
+            MinimalGenotypingEngine newActiveGenotypingEngine = new MinimalGenotypingEngine(newPloidyActiveArgs, samplesList);
+            newActiveGenotypingEngine.setLogger(logger);
+            this.ploidyToActiveEvaluationGenotyper.put(ploidy, newActiveGenotypingEngine);
+        }
     }
 
     /**
@@ -455,7 +526,7 @@ public VCFHeader makeVCFHeader( final SAMSequenceDictionary sequenceDictionary,
         final Set headerInfo = new HashSet<>();
         headerInfo.addAll(defaultToolHeaderLines);
 
-        headerInfo.addAll(genotypingEngine.getAppropriateVCFInfoHeaders());
+        headerInfo.addAll(defaultGenotypingEngine.getAppropriateVCFInfoHeaders());
         // all annotation fields from VariantAnnotatorEngine
         headerInfo.addAll(annotationEngine.getVCFAnnotationDescriptions(emitReferenceConfidence()));
         // all callers need to add these standard annotation header lines
@@ -523,6 +594,57 @@ public void writeHeader( final VariantContextWriter vcfWriter, final SAMSequence
         vcfWriter.writeHeader(makeVCFHeader(sequenceDictionary, defaultToolHeaderLines));
     }
 
+    /**
+     * Determines the appropriate ploidy to use at given site for different genotyping engines.
+     * @param region Current region of interest
+     * @return Ploidy value to use here given user inputs, or -1 if fall back to default
+     */
+    private int getPloidyToUseAtThisSite(Locatable region) {
+        Set overlaps = this.ploidyRegionsOverlapDetector.getOverlaps(region);
+        // Return first engine for interval overlapping this region
+        if (!overlaps.isEmpty()) {
+            Iterator intervals = overlaps.iterator();
+            int max = intervals.next().getCount();
+            while (intervals.hasNext()) {
+                int next = intervals.next().getCount();
+                if (next > max) {
+                    max = next;
+                }
+            }
+            return max;
+        } else {
+            return -1; // Sentinel value to fall back to default genotyper
+        }
+    }
+
+    /**
+     * Selects appropriate active region genotyping engine for given region
+     * @param region Current region of interest
+     * @return Active genotyping engine with correct ploidy setting for given region
+     */
+    private MinimalGenotypingEngine getLocalActiveGenotyper(Locatable region) {
+        int currentPloidy = getPloidyToUseAtThisSite(region);
+        if (currentPloidy == -1) {
+            return this.defaultActiveRegionEvaluationGenotyperEngine;
+        } else {
+            return this.ploidyToActiveEvaluationGenotyper.get(currentPloidy);
+        }
+    }
+
+    /**
+     * Selects appropriate genotyping engine for given region.
+     * @param region Current region of interest, e.g. AssemblyRegion
+     * @return Genotyping engine with correct ploidy setting for given region
+     */
+    protected HaplotypeCallerGenotypingEngine getLocalGenotypingEngine(Locatable region) {
+        int currentPloidy = getPloidyToUseAtThisSite(region);
+        if (currentPloidy == -1) {
+            return this.defaultGenotypingEngine;
+        } else {
+            return this.ploidyToGenotyperMap.get(currentPloidy);
+        }
+    }
+
     /**
      * Given a pileup, returns an ActivityProfileState containing the probability (0.0 to 1.0) that it's an "active" site.
      *
@@ -537,6 +659,8 @@ public void writeHeader( final VariantContextWriter vcfWriter, final SAMSequence
      */
     @Override
     public ActivityProfileState isActive(final AlignmentContext context, final ReferenceContext ref, final FeatureContext features) {
+        MinimalGenotypingEngine localActiveGenotypingEngine = getLocalActiveGenotyper(ref);
+
         if (forceCallingAllelesPresent && features.getValues(hcArgs.alleles, ref).stream().anyMatch(vc -> hcArgs.forceCallFiltered || vc.isNotFiltered())) {
             return new ActivityProfileState(ref.getInterval(), 1.0);
         }
@@ -546,7 +670,7 @@ public ActivityProfileState isActive(final AlignmentContext context, final Refer
             return new ActivityProfileState(ref.getInterval(), 0.0);
         }
 
-        final int ploidy = activeRegionEvaluationGenotyperEngine.getConfiguration().genotypeArgs.samplePloidy;
+        final int ploidy = localActiveGenotypingEngine.getConfiguration().genotypeArgs.samplePloidy;
         final List noCall = GATKVariantContextUtils.noCallAlleles(ploidy); // used to noCall all genotypes until the exact model is applied
 
         final Map splitContexts;
@@ -565,7 +689,7 @@ public ActivityProfileState isActive(final AlignmentContext context, final Refer
                 sample.getValue().getBasePileup().forEach(p -> PileupBasedAlleles.addMismatchPercentageToRead(p.getRead(), readsHeader, ref));
             }
             // The ploidy here is not dictated by the sample but by the simple genotyping-engine used to determine whether regions are active or not.
-            final int activeRegionDetectionHackishSamplePloidy = activeRegionEvaluationGenotyperEngine.getConfiguration().genotypeArgs.samplePloidy;
+            final int activeRegionDetectionHackishSamplePloidy = localActiveGenotypingEngine.getConfiguration().genotypeArgs.samplePloidy;
             final double[] genotypeLikelihoods = ((RefVsAnyResult) referenceConfidenceModel.calcGenotypeLikelihoodsOfRefVsAny(
                     activeRegionDetectionHackishSamplePloidy,
                     sample.getValue().getBasePileup(), ref.getBase(),
@@ -579,9 +703,9 @@ public ActivityProfileState isActive(final AlignmentContext context, final Refer
 
         if (genotypes.size() == 1) {
             // Faster implementation using exact marginalization instead of iteration
-            isActiveProb = activeRegionEvaluationGenotyperEngine.calculateSingleSampleRefVsAnyActiveStateProfileValue(genotypes.get(0).getLikelihoods().getAsVector());
+            isActiveProb = localActiveGenotypingEngine.calculateSingleSampleRefVsAnyActiveStateProfileValue(genotypes.get(0).getLikelihoods().getAsVector());
         } else {
-            final VariantContext vcOut = activeRegionEvaluationGenotyperEngine.calculateGenotypes(new VariantContextBuilder("HCisActive!", context.getContig(), context.getLocation().getStart(), context.getLocation().getEnd(), alleles).genotypes(genotypes).make());
+            final VariantContext vcOut = localActiveGenotypingEngine.calculateGenotypes(new VariantContextBuilder("HCisActive!", context.getContig(), context.getLocation().getStart(), context.getLocation().getEnd(), alleles).genotypes(genotypes).make());
             isActiveProb = vcOut == null ? 0.0 : QualityUtils.qualToProb(vcOut.getPhredScaledQual());
         }
 
@@ -607,6 +731,8 @@ public ActivityProfileState isActive(final AlignmentContext context, final Refer
      * @return List of variants discovered in the region (may be empty)
      */
     public List callRegion(final AssemblyRegion region, final FeatureContext features, final ReferenceContext referenceContext) {
+        final HaplotypeCallerGenotypingEngine localGenotypingEngine = getLocalGenotypingEngine(region);
+
         if ( hcArgs.justDetermineActiveRegions ) {
             // we're benchmarking ART and/or the active region determination code in the HC, just leave without doing any work
             return NO_CALLS;
@@ -799,7 +925,7 @@ public List callRegion(final AssemblyRegion region, final Featur
         if (hcArgs.filterAlleles) {
             logger.debug("Filtering alleles");
 
-            AlleleFilteringHC alleleFilter = new AlleleFilteringHC(hcArgs, assemblyDebugOutStream, genotypingEngine);
+            AlleleFilteringHC alleleFilter = new AlleleFilteringHC(hcArgs, assemblyDebugOutStream, localGenotypingEngine);
             //need to update haplotypes to find the alleles
             EventMap.buildEventMapsForHaplotypes(readLikelihoods.alleles(),
                     assemblyResult.getFullReferenceWithPadding(),
@@ -849,7 +975,7 @@ public List callRegion(final AssemblyRegion region, final Featur
             }
         }
 
-        final CalledHaplotypes calledHaplotypes = genotypingEngine.assignGenotypeLikelihoods(
+        final CalledHaplotypes calledHaplotypes = localGenotypingEngine.assignGenotypeLikelihoods(
                 haplotypes,
                 subsettedReadLikelihoodsFinal,
                 perSampleFilteredReadList,
@@ -890,7 +1016,7 @@ public List callRegion(final AssemblyRegion region, final Featur
 
                 result.addAll(referenceConfidenceModel.calculateRefConfidence(assemblyResult.getReferenceHaplotype(),
                         calledHaplotypes.getCalledHaplotypes(), assemblyResult.getPaddedReferenceLoc(), regionForGenotyping,
-                        subsettedReadLikelihoodsFinal, genotypingEngine.getPloidyModel(), calledHaplotypes.getCalls(), hcArgs.standardArgs.genotypeArgs.supportVariants != null,
+                        subsettedReadLikelihoodsFinal, localGenotypingEngine.getPloidyModel(), calledHaplotypes.getCalls(), hcArgs.standardArgs.genotypeArgs.supportVariants != null,
                         VCpriors));
 
                 trimmingResult.nonVariantRightFlankRegion().ifPresent(flank -> result.addAll(referenceModelForNoVariation(flank, false, VCpriors)));
@@ -948,6 +1074,7 @@ protected boolean containsCalls(final CalledHaplotypes calledHaplotypes) {
      * @return a list of variant contexts (can be empty) to emit for this ref region
      */
     protected List referenceModelForNoVariation(final AssemblyRegion region, final boolean needsToBeFinalized, final List VCpriors) {
+        final HaplotypeCallerGenotypingEngine localGenotypingEngine = getLocalGenotypingEngine(region);
         if ( emitReferenceConfidence() ) {
             if ( needsToBeFinalized ) {
                 AssemblyBasedCallerUtils.finalizeRegion(region,
@@ -967,7 +1094,7 @@ protected List referenceModelForNoVariation(final AssemblyRegion
             final List haplotypes = Collections.singletonList(refHaplotype);
             return referenceConfidenceModel.calculateRefConfidence(refHaplotype, haplotypes,
                     paddedLoc, region, AssemblyBasedCallerUtils.createDummyStratifiedReadMap(refHaplotype, samplesList, readsHeader, region),
-                    genotypingEngine.getPloidyModel(), Collections.emptyList(), hcArgs.standardArgs.genotypeArgs.supportVariants != null, VCpriors);
+                    localGenotypingEngine.getPloidyModel(), Collections.emptyList(), hcArgs.standardArgs.genotypeArgs.supportVariants != null, VCpriors);
         }
         else {
             return NO_CALLS;
diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/RampedHaplotypeCallerEngine.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/RampedHaplotypeCallerEngine.java
index b5b5c2cfa88..e47245c9f91 100644
--- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/RampedHaplotypeCallerEngine.java
+++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/RampedHaplotypeCallerEngine.java
@@ -460,6 +460,7 @@ private void uncollapse(final CallRegionContext context) {
     }
 
     private void filter(final CallRegionContext context) {
+        final HaplotypeCallerGenotypingEngine localGenotypingEngine = getLocalGenotypingEngine(context.region);
 
         try {
             // no need for this step?
@@ -479,7 +480,7 @@ private void filter(final CallRegionContext context) {
                 context.suspiciousLocations = new HashSet<>();
                 if (hcArgs.filterAlleles) {
                     logger.debug("Filtering alleles");
-                    AlleleFilteringHC alleleFilter = new AlleleFilteringHC(hcArgs, assemblyDebugOutStream, genotypingEngine);
+                    AlleleFilteringHC alleleFilter = new AlleleFilteringHC(hcArgs, assemblyDebugOutStream, localGenotypingEngine);
                     //need to update haplotypes to find the alleles
                     EventMap.buildEventMapsForHaplotypes(context.readLikelihoods.alleles(),
                             context.assemblyResult.getFullReferenceWithPadding(),
@@ -520,6 +521,7 @@ private void filter(final CallRegionContext context) {
     }
 
     private void genotype(final CallRegionContext context) {
+        final HaplotypeCallerGenotypingEngine localGenotypingEngine = getLocalGenotypingEngine(context.region);
 
         // no need for this step?
         if ( context.regionVariants != null ) {
@@ -542,7 +544,7 @@ private void genotype(final CallRegionContext context) {
         //  haplotype containing C as reference (and vice versa).  Now this is fine if all possible haplotypes are included
         //  in the genotyping, but we lose information if we select down to a few haplotypes.  [EB]
         List     haplotypes = context.readLikelihoods.alleles();
-        final CalledHaplotypes calledHaplotypes = genotypingEngine.assignGenotypeLikelihoods(
+        final CalledHaplotypes calledHaplotypes = localGenotypingEngine.assignGenotypeLikelihoods(
                 haplotypes,
                 context.readLikelihoods,
                 perSampleFilteredReadList,
@@ -582,7 +584,7 @@ private void genotype(final CallRegionContext context) {
 
                 result.addAll(referenceConfidenceModel.calculateRefConfidence(context.assemblyResult.getReferenceHaplotype(),
                         calledHaplotypes.getCalledHaplotypes(), context.assemblyResult.getPaddedReferenceLoc(), regionForGenotyping,
-                        context.readLikelihoods, genotypingEngine.getPloidyModel(), calledHaplotypes.getCalls(), hcArgs.standardArgs.genotypeArgs.supportVariants != null,
+                        context.readLikelihoods, localGenotypingEngine.getPloidyModel(), calledHaplotypes.getCalls(), hcArgs.standardArgs.genotypeArgs.supportVariants != null,
                         context.VCpriors));
 
                 context.nonVariantRightFlankRegion.ifPresent(flank -> result.addAll(referenceModelForNoVariation(flank, false, context.VCpriors)));
diff --git a/src/test/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/HaplotypeCallerIntegrationTest.java b/src/test/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/HaplotypeCallerIntegrationTest.java
index 54585b1709d..cddb87c5dac 100644
--- a/src/test/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/HaplotypeCallerIntegrationTest.java
+++ b/src/test/java/org/broadinstitute/hellbender/tools/walkers/haplotypecaller/HaplotypeCallerIntegrationTest.java
@@ -946,6 +946,125 @@ public void testHaplotypeCallerRemoveAltAlleleBasedOnHaptypeScores() throws IOEx
         }
     }
 
+    @Test(dataProvider="HaplotypeCallerTestInputs")
+    public void testCustomPloidyRegions(final String inputFileName, final String referenceFileName) throws Exception {
+        Utils.resetRandomGenerator();
+
+        final File output = createTempFile("output", ".vcf");
+        final File expected = new File(TEST_FILES_DIR, "expected.testPloidyRegions.vcf");
+        final File ploidyRegions = new File(TEST_FILES_DIR, "testPloidyRegions.bed");
+
+        final String[] args = {
+                "-I", inputFileName,
+                "-R", referenceFileName,
+                "-L", "20:10000000-10100000",
+                "-O", output.getAbsolutePath(),
+                "-ploidy", "3",
+                "--ploidy-regions", ploidyRegions.getAbsolutePath(),
+                "--" + StandardArgumentDefinitions.ADD_OUTPUT_VCF_COMMANDLINE, "false"
+        };
+
+        runCommandLine(args);
+
+        IntegrationTestSpec.assertEqualTextFiles(output, expected);
+    }
+
+    // Should fail due to non-integer values in name column of bed
+    @Test(dataProvider="HaplotypeCallerTestInputs", expectedExceptions = IllegalArgumentException.class)
+    public void testNonIntegerCustomPloidyRegions(final String inputFileName, final String referenceFileName) throws Exception {
+        Utils.resetRandomGenerator();
+
+        final File output = createTempFile("output", ".vcf");
+        final File expected = new File(TEST_FILES_DIR, "expected.testPloidyRegions.vcf");
+        final File ploidyRegions = new File(TEST_FILES_DIR, "testNonIntegerPloidyRegions.bed");
+
+        final String[] args = {
+                "-I", inputFileName,
+                "-R", referenceFileName,
+                "-L", "20:10000000-10100000",
+                "-O", output.getAbsolutePath(),
+                "-ploidy", "3",
+                "--ploidy-regions", ploidyRegions.getAbsolutePath(),
+                "--" + StandardArgumentDefinitions.ADD_OUTPUT_VCF_COMMANDLINE, "false"
+        };
+
+        runCommandLine(args);
+
+        IntegrationTestSpec.assertEqualTextFiles(output, expected);
+    }
+
+    // Should fail due to negative integer values in name column of bed
+    @Test(dataProvider="HaplotypeCallerTestInputs", expectedExceptions = IllegalArgumentException.class)
+    public void testNonPositiveCustomPloidyRegions(final String inputFileName, final String referenceFileName) throws Exception {
+        Utils.resetRandomGenerator();
+
+        final File output = createTempFile("output", ".vcf");
+        final File expected = new File(TEST_FILES_DIR, "expected.testPloidyRegions.vcf");
+        final File ploidyRegions = new File(TEST_FILES_DIR, "testNegativePloidyRegions.bed");
+
+        final String[] args = {
+                "-I", inputFileName,
+                "-R", referenceFileName,
+                "-L", "20:10000000-10100000",
+                "-O", output.getAbsolutePath(),
+                "-ploidy", "3",
+                "--ploidy-regions", ploidyRegions.getAbsolutePath(),
+                "--" + StandardArgumentDefinitions.ADD_OUTPUT_VCF_COMMANDLINE, "false"
+        };
+
+        runCommandLine(args);
+
+        IntegrationTestSpec.assertEqualTextFiles(output, expected);
+    }
+
+    // Should fail due to using chr20 contig name in ploidy-regions file when BAM sequence dictionary uses 20
+    @Test(dataProvider="HaplotypeCallerTestInputs", expectedExceptions = UserException.class)
+    public void testMismatchPloidyRegionsAndSequenceDictionary(final String inputFileName, final String referenceFileName) throws Exception {
+        Utils.resetRandomGenerator();
+
+        final File output = createTempFile("output", ".vcf");
+        final File expected = new File(TEST_FILES_DIR, "expected.testPloidyRegions.vcf");
+        final File ploidyRegions = new File(TEST_FILES_DIR, "testMismatchPloidyRegions.bed");
+
+        final String[] args = {
+                "-I", inputFileName,
+                "-R", referenceFileName,
+                "-L", "20:10000000-10100000",
+                "-O", output.getAbsolutePath(),
+                "-ploidy", "3",
+                "--ploidy-regions", ploidyRegions.getAbsolutePath(),
+                "--" + StandardArgumentDefinitions.ADD_OUTPUT_VCF_COMMANDLINE, "false"
+        };
+
+        runCommandLine(args);
+
+        IntegrationTestSpec.assertEqualTextFiles(output, expected);
+    }
+
+    // Tests the somewhat ad hoc implementation of copying hcArgs instances in the engine, used for managing multiple ploidies used based on user inputs
+    @Test
+    public void testArgCollectionCopiesAreSynchronized() {
+        Utils.resetRandomGenerator();
+
+        HaplotypeCallerArgumentCollection hcArgs = new HaplotypeCallerArgumentCollection();
+        hcArgs.applyBQD = !hcArgs.applyBQD;
+        hcArgs.dontGenotype = !hcArgs.dontGenotype;
+        hcArgs.standardArgs.annotateAllSitesWithPLs = !hcArgs.standardArgs.annotateAllSitesWithPLs;
+        hcArgs.standardArgs.genotypeArgs.ANNOTATE_NUMBER_OF_ALLELES_DISCOVERED = !hcArgs.standardArgs.genotypeArgs.ANNOTATE_NUMBER_OF_ALLELES_DISCOVERED;
+
+        // Create copy with different ploidy and check tweaked values (and one control non-changed value) remain in sync
+        HaplotypeCallerArgumentCollection hcArgsCopy = hcArgs.copyWithNewPloidy(3);
+        Assert.assertEquals(hcArgs.applyBQD, hcArgsCopy.applyBQD);
+        Assert.assertEquals(hcArgs.dontGenotype, hcArgsCopy.dontGenotype);
+        Assert.assertEquals(hcArgs.standardArgs.annotateAllSitesWithPLs, hcArgsCopy.standardArgs.annotateAllSitesWithPLs);
+        Assert.assertEquals(hcArgs.standardArgs.CONTAMINATION_FRACTION, hcArgsCopy.standardArgs.CONTAMINATION_FRACTION);
+        Assert.assertEquals(hcArgs.standardArgs.genotypeArgs.ANNOTATE_NUMBER_OF_ALLELES_DISCOVERED, hcArgsCopy.standardArgs.genotypeArgs.ANNOTATE_NUMBER_OF_ALLELES_DISCOVERED);
+
+        // Modify other values of copy and check they are now distinct, i.e. a "deep copy" was created above
+        hcArgsCopy.applyBQD = !hcArgsCopy.applyBQD;
+        Assert.assertNotEquals(hcArgs.applyBQD, hcArgsCopy.applyBQD);
+    }
+
     // test that ReadFilterLibrary.NON_ZERO_REFERENCE_LENGTH_ALIGNMENT removes reads that consume zero reference bases
     // e.g. read name HAVCYADXX150109:1:2102:20528:2129 with cigar 23S53I
     @Test
diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/haplotypecaller/expected.testPloidyRegions.vcf b/src/test/resources/org/broadinstitute/hellbender/tools/haplotypecaller/expected.testPloidyRegions.vcf
new file mode 100644
index 00000000000..9beffa772ce
--- /dev/null
+++ b/src/test/resources/org/broadinstitute/hellbender/tools/haplotypecaller/expected.testPloidyRegions.vcf
@@ -0,0 +1,273 @@
+##fileformat=VCFv4.2
+##FILTER=
+##FORMAT=
+##FORMAT=
+##FORMAT=
+##FORMAT=
+##FORMAT=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##INFO=
+##contig=
+##contig=
+#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	NA12878
+20	10000117	.	C	T	926.64	.	AC=1;AF=0.500;AN=2;BaseQRankSum=2.136;DP=66;ExcessHet=0.0000;FS=11.007;MLEAC=1;MLEAF=0.500;MQ=59.72;MQRankSum=0.913;QD=14.48;ReadPosRankSum=-0.223;SOR=1.538	GT:AD:DP:GQ:PL	0/1:36,28:64:99:934,0,1248
+20	10000211	.	C	T	962.64	.	AC=1;AF=0.500;AN=2;BaseQRankSum=1.867;DP=54;ExcessHet=0.0000;FS=5.587;MLEAC=1;MLEAF=0.500;MQ=59.65;MQRankSum=1.057;QD=18.16;ReadPosRankSum=0.703;SOR=0.944	GT:AD:DP:GQ:PL	0/1:26,27:53:99:970,0,906
+20	10000439	.	T	G	2819.06	.	AC=2;AF=1.00;AN=2;DP=82;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=58.86;QD=25.36;SOR=1.236	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2833,240,0
+20	10000598	.	T	A	1956.06	.	AC=2;AF=1.00;AN=2;DP=51;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=55.45;QD=28.73;SOR=1.225	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1970,147,0
+20	10000694	.	G	A	1029.64	.	AC=1;AF=0.500;AN=2;BaseQRankSum=3.599;DP=87;ExcessHet=0.0000;FS=1.822;MLEAC=1;MLEAF=0.500;MQ=48.86;MQRankSum=-5.114;QD=12.56;ReadPosRankSum=0.657;SOR=0.566	GT:AD:DP:GQ:PL	0/1:45,37:82:99:1037,0,1601
+20	10000758	.	T	A	3853.06	.	AC=2;AF=1.00;AN=2;DP=97;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=53.51;QD=30.97;SOR=0.802	GT:AD:DP:GQ:PL	1/1:0,95:95:99:3867,286,0
+20	10001019	.	T	G	671.64	.	AC=1;AF=0.500;AN=2;BaseQRankSum=-2.541;DP=75;ExcessHet=0.0000;FS=3.406;MLEAC=1;MLEAF=0.500;MQ=47.62;MQRankSum=-7.498;QD=10.33;ReadPosRankSum=-0.925;SOR=0.665	GT:AD:DP:GQ:PL	0/1:39,26:65:99:679,0,1426
+20	10001298	.	T	A	2932.06	.	AC=2;AF=1.00;AN=2;DP=79;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=53.93;QD=27.24;SOR=0.963	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2946,220,0
+20	10001436	.	A	AAGGCT	2325.03	.	AC=2;AF=1.00;AN=2;DP=58;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=41.22;QD=28.20;SOR=3.014	GT:AD:DP:GQ:PL	1/1:0,52:52:99:2339,156,0
+20	10001474	.	C	T	2655.06	.	AC=2;AF=1.00;AN=2;DP=77;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=44.87;QD=25.00;SOR=1.516	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2669,219,0
+20	10001617	.	C	A	1752.64	.	AC=1;AF=0.500;AN=2;BaseQRankSum=1.261;DP=105;ExcessHet=0.0000;FS=13.163;MLEAC=1;MLEAF=0.500;MQ=59.02;MQRankSum=1.373;QD=17.02;ReadPosRankSum=-0.280;SOR=1.346	GT:AD:DP:GQ:PL	0/1:52,51:103:99:1760,0,1781
+20	10001628	.	G	A	3913.06	.	AC=2;AF=1.00;AN=2;DP=98;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=59.19;QD=29.56;SOR=1.053	GT:AD:DP:GQ:PL	1/1:0,95:95:99:3927,285,0
+20	10001661	.	T	C	3621.06	.	AC=2;AF=1.00;AN=2;DP=85;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=58.13;QD=30.62;SOR=1.112	GT:AD:DP:GQ:PL	1/1:0,83:83:99:3635,249,0
+20	10001670	.	T	G	3688.06	.	AC=2;AF=1.00;AN=2;DP=86;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=57.60;QD=28.17;SOR=0.897	GT:AD:DP:GQ:PL	1/1:0,84:84:99:3702,253,0
+20	10002058	.	T	G	2978.06	.	AC=2;AF=1.00;AN=2;BaseQRankSum=1.931;DP=79;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=57.87;MQRankSum=3.068;QD=26.80;ReadPosRankSum=0.624;SOR=0.776	GT:AD:DP:GQ:PL	1/1:1,74:75:99:2992,216,0
+20	10002099	.	C	T	1215.64	.	AC=1;AF=0.500;AN=2;BaseQRankSum=-0.282;DP=68;ExcessHet=0.0000;FS=3.528;MLEAC=1;MLEAF=0.500;MQ=56.46;MQRankSum=-0.850;QD=18.70;ReadPosRankSum=0.173;SOR=0.375	GT:AD:DP:GQ:PL	0/1:27,38:65:99:1223,0,844
+20	10002138	.	C	G	2458.06	.	AC=2;AF=1.00;AN=2;DP=57;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=56.64;QD=26.00;SOR=0.765	GT:AD:DP:GQ:PL	1/1:0,56:56:99:2472,169,0
+20	10002142	.	G	C	2422.06	.	AC=2;AF=1.00;AN=2;DP=56;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=56.08;QD=30.02;SOR=0.804	GT:AD:DP:GQ:PL	1/1:0,55:55:99:2436,166,0
+20	10002458	.	G	GTTT	2154.96	.	AC=2;AF=1.00;AN=2;DP=65;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=50.67;QD=31.98;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,56:56:99:2090,167,0
+20	10002470	.	C	T	2537.06	.	AC=2;AF=1.00;AN=2;DP=68;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=49.92;QD=27.51;SOR=0.859	GT:AD:DP:GQ:PL	1/1:0,63:63:99:2551,189,0
+20	10002625	.	G	T	2680.06	.	AC=2;AF=1.00;AN=2;DP=66;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=59.08;QD=29.11;SOR=1.127	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2694,193,0
+20	10003021	.	C	T	2398.06	.	AC=2;AF=1.00;AN=2;DP=63;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=59.04;QD=28.08;SOR=1.071	GT:AD:DP:GQ:PL	1/1:0,60:60:99:2412,181,0
+20	10003358	.	A	C	1475.64	.	AC=1;AF=0.500;AN=2;BaseQRankSum=0.004;DP=91;ExcessHet=0.0000;FS=0.844;MLEAC=1;MLEAF=0.500;MQ=59.80;MQRankSum=1.011;QD=16.58;ReadPosRankSum=-1.355;SOR=0.572	GT:AD:DP:GQ:PL	0/1:45,44:89:99:1483,0,1477
+20	10003651	.	T	C	3635.06	.	AC=2;AF=1.00;AN=2;DP=98;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=59.24;QD=23.23;SOR=1.511	GT:AD:DP:GQ:PL	1/1:0,93:93:99:3649,279,0
+20	10003692	.	A	G	2624.06	.	AC=2;AF=1.00;AN=2;DP=72;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=59.48;QD=29.03;SOR=1.352	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2638,205,0
+20	10003832	.	G	A	2720.06	.	AC=2;AF=1.00;AN=2;DP=67;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=56.82;QD=30.67;SOR=1.473	GT:AD:DP:GQ:PL	1/1:0,66:66:99:2734,199,0
+20	10004094	.	A	C	1840.06	.	AC=2;AF=1.00;AN=2;DP=55;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=52.62;QD=34.72;SOR=1.524	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1854,157,0
+20	10004147	.	A	G	1852.06	.	AC=2;AF=1.00;AN=2;DP=54;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=55.19;QD=26.61;SOR=1.136	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1866,156,0
+20	10004193	.	G	T	937.64	.	AC=1;AF=0.500;AN=2;BaseQRankSum=-0.392;DP=54;ExcessHet=0.0000;FS=2.369;MLEAC=1;MLEAF=0.500;MQ=59.14;MQRankSum=3.385;QD=18.39;ReadPosRankSum=1.724;SOR=0.941	GT:AD:DP:GQ:PL	0/1:23,28:51:99:945,0,776
+20	10004222	.	C	CA	42.60	.	AC=1;AF=0.500;AN=2;BaseQRankSum=0.335;DP=69;ExcessHet=0.0000;FS=3.221;MLEAC=1;MLEAF=0.500;MQ=58.21;MQRankSum=-2.220;QD=0.95;ReadPosRankSum=0.198;SOR=0.932	GT:AD:DP:GQ:PL	0/1:35,10:45:50:50,0,923
+20	10004223	.	A	AG	77.60	.	AC=1;AF=0.500;AN=2;BaseQRankSum=-0.607;DP=69;ExcessHet=0.0000;FS=1.242;MLEAC=1;MLEAF=0.500;MQ=58.30;MQRankSum=2.260;QD=1.62;ReadPosRankSum=0.060;SOR=0.504	GT:AD:DP:GQ:PL	0/1:36,12:48:85:85,0,983
+20	10004351	.	C	G	2770.06	.	AC=2;AF=1.00;AN=2;DP=71;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=59.05;QD=29.20;SOR=0.874	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2784,211,0
+20	10004389	.	T	G	2509.06	.	AC=2;AF=1.00;AN=2;DP=67;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=56.62;QD=28.55;SOR=1.143	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2523,187,0
+20	10004610	.	A	C	3640.06	.	AC=2;AF=1.00;AN=2;DP=93;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=58.75;QD=34.42;SOR=0.761	GT:AD:DP:GQ:PL	1/1:0,89:89:99:3654,267,0
+20	10004725	.	A	G	972.64	.	AC=1;AF=0.500;AN=2;BaseQRankSum=-2.154;DP=67;ExcessHet=0.0000;FS=15.830;MLEAC=1;MLEAF=0.500;MQ=55.04;MQRankSum=3.008;QD=14.96;ReadPosRankSum=2.087;SOR=0.605	GT:AD:DP:GQ:PL	0/1:35,30:65:99:980,0,1168
+20	10004769	.	TAAAACTATGC	T	1011.60	.	AC=1;AF=0.500;AN=2;BaseQRankSum=0.599;DP=80;ExcessHet=0.0000;FS=3.758;MLEAC=1;MLEAF=0.500;MQ=52.80;MQRankSum=-6.625;QD=15.81;ReadPosRankSum=1.879;SOR=1.306	GT:AD:DP:GQ:PL	0/1:37,27:64:99:1019,0,1471
+20	10004874	.	A	C	3617.06	.	AC=2;AF=1.00;AN=2;DP=90;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=59.35;QD=28.53;SOR=1.286	GT:AD:DP:GQ:PL	1/1:0,87:87:99:3631,261,0
+20	10004887	.	A	G	1344.64	.	AC=1;AF=0.500;AN=2;BaseQRankSum=0.356;DP=90;ExcessHet=0.0000;FS=1.793;MLEAC=1;MLEAF=0.500;MQ=59.49;MQRankSum=-0.067;QD=15.82;ReadPosRankSum=-1.114;SOR=0.984	GT:AD:DP:GQ:PL	0/1:45,40:85:99:1352,0,1542
+20	10005010	.	C	T	2949.06	.	AC=2;AF=1.00;AN=2;DP=73;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=59.68;QD=27.23;SOR=1.226	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2963,217,0
+20	10005427	.	C	T	2229.06	.	AC=2;AF=1.00;AN=2;DP=60;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=59.62;QD=29.52;SOR=0.729	GT:AD:DP:GQ:PL	1/1:0,55:55:99:2243,165,0
+20	10005499	.	A	G	3068.06	.	AC=2;AF=1.00;AN=2;DP=78;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=33.47;SOR=1.121	GT:AD:DP:GQ:PL	1/1:0,76:76:99:3082,229,0
+20	10005587	.	A	G	1250.64	.	AC=1;AF=0.500;AN=2;BaseQRankSum=-0.834;DP=76;ExcessHet=0.0000;FS=1.955;MLEAC=1;MLEAF=0.500;MQ=59.75;MQRankSum=-0.972;QD=17.37;ReadPosRankSum=0.248;SOR=0.848	GT:AD:DP:GQ:PL	0/1:36,36:72:99:1258,0,1236
+20	10005723	.	A	G	3077.06	.	AC=2;AF=1.00;AN=2;DP=88;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=59.79;QD=32.91;SOR=0.947	GT:AD:DP:GQ:PL	1/1:0,86:86:99:3091,258,0
+20	10006291	.	G	A	999.64	.	AC=1;AF=0.500;AN=2;BaseQRankSum=0.311;DP=85;ExcessHet=0.0000;FS=0.853;MLEAC=1;MLEAF=0.500;MQ=59.29;MQRankSum=-1.081;QD=11.90;ReadPosRankSum=-1.447;SOR=0.659	GT:AD:DP:GQ:PL	0/1:53,31:84:99:1007,0,1905
+20	10006404	.	A	C	2943.06	.	AC=2;AF=1.00;AN=2;DP=83;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=59.22;QD=31.31;SOR=1.432	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2957,228,0
+20	10006682	.	T	A	2889.06	.	AC=2;AF=1.00;AN=2;DP=75;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=59.44;QD=31.45;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2903,219,0
+20	10006819	.	AAAAC	A	2554.03	.	AC=2;AF=1.00;AN=2;DP=81;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=61.06;QD=33.27;SOR=0.762	GT:AD:DP:GQ:PL	1/1:0,58:58:99:2568,176,0
+20	10007150	.	G	C	690.64	.	AC=1;AF=0.500;AN=2;BaseQRankSum=-4.476;DP=64;ExcessHet=0.0000;FS=5.048;MLEAC=1;MLEAF=0.500;MQ=60.00;MQRankSum=0.000;QD=10.96;ReadPosRankSum=-0.077;SOR=0.746	GT:AD:DP:GQ:PL	0/1:38,25:63:99:698,0,1479
+20	10007175	.	C	T	1371.64	.	AC=1;AF=0.500;AN=2;BaseQRankSum=2.249;DP=63;ExcessHet=0.0000;FS=2.211;MLEAC=1;MLEAF=0.500;MQ=59.63;MQRankSum=1.319;QD=22.49;ReadPosRankSum=-1.213;SOR=0.434	GT:AD:DP:GQ:PL	0/1:23,38:61:99:1379,0,780
+20	10007352	.	C	T	2779.06	.	AC=2;AF=1.00;AN=2;DP=70;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=59.67;QD=31.26;SOR=1.054	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2793,208,0
+20	10007531	.	A	G	2935.06	.	AC=2;AF=1.00;AN=2;DP=75;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=59.75;QD=27.76;SOR=1.577	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2949,217,0
+20	10007980	.	A	C	3539.06	.	AC=2;AF=1.00;AN=2;DP=92;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.70;QD=29.09;SOR=0.990	GT:AD:DP:GQ:PL	1/1:0,90:90:99:3553,270,0
+20	10008029	.	T	TA	2010.03	.	AC=2;AF=1.00;AN=2;BaseQRankSum=0.409;DP=97;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=61.11;MQRankSum=0.651;QD=26.10;ReadPosRankSum=-1.357;SOR=0.774	GT:AD:DP:GQ:PL	1/1:3,74:77:99:2024,145,0
+20	10008146	.	TA	T	2165.03	.	AC=2;AF=1.00;AN=2;DP=77;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.56;QD=30.93;SOR=0.874	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2179,211,0
+20	10008221	.	T	C	3239.06	.	AC=2;AF=1.00;AN=2;DP=83;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.17;QD=26.08;SOR=0.850	GT:AD:DP:GQ:PL	1/1:0,80:80:99:3253,240,0
+20	10008458	.	T	G	2669.06	.	AC=2;AF=1.00;AN=2;DP=72;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=52.76;QD=33.85;SOR=0.980	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2683,207,0
+20	10008742	.	G	T	736.64	.	AC=1;AF=0.500;AN=2;BaseQRankSum=3.893;DP=50;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=37.07;MQRankSum=-1.502;QD=15.03;ReadPosRankSum=0.200;SOR=0.741	GT:AD:DP:GQ:PL	0/1:23,26:49:99:744,0,580
+20	10008758	.	C	CA	707.49	.	AC=2;AF=1.00;AN=2;BaseQRankSum=0.130;DP=51;ExcessHet=0.0000;FS=2.191;MLEAC=1;MLEAF=0.500;MQ=37.72;MQRankSum=-0.875;QD=18.62;ReadPosRankSum=-0.262;SOR=0.405	GT:AD:DP:GQ:PL	1/1:4,34:38:10:721,10,0
+20	10008921	.	C	CA	283.60	.	AC=1;AF=0.500;AN=2;BaseQRankSum=0.610;DP=60;ExcessHet=0.0000;FS=1.311;MLEAC=1;MLEAF=0.500;MQ=56.00;MQRankSum=-1.306;QD=8.10;ReadPosRankSum=-0.017;SOR=0.644	GT:AD:DP:GQ:PL	0/1:18,17:35:99:291,0,366
+20	10008948	.	TA	T	2091.03	.	AC=2;AF=1.00;AN=2;BaseQRankSum=0.994;DP=56;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=51.26;MQRankSum=1.946;QD=27.08;ReadPosRankSum=0.884;SOR=0.721	GT:AD:DP:GQ:PL	1/1:1,53:54:99:2105,117,0
+20	10008952	.	CACACACACACA	C,CCACACACACA	1700.02	.	AC=1,1;AF=0.500,0.500;AN=2;BaseQRankSum=0.963;DP=63;ExcessHet=0.0000;FS=0.000;MLEAC=1,1;MLEAF=0.500,0.500;MQ=51.23;MQRankSum=1.976;QD=25.42;ReadPosRankSum=0.868;SOR=1.112	GT:AD:DP:GQ:PL	1/2:1,17,18:36:99:1717,539,803,595,0,533
+20	10009227	.	A	G	1390.64	.	AC=1;AF=0.500;AN=2;BaseQRankSum=-2.220;DP=63;ExcessHet=0.0000;FS=9.110;MLEAC=1;MLEAF=0.500;MQ=56.82;MQRankSum=1.428;QD=22.43;ReadPosRankSum=-1.159;SOR=0.281	GT:AD:DP:GQ:PL	0/1:23,39:62:99:1398,0,740
+20	10009246	.	A	G	3017.06	.	AC=2;AF=1.00;AN=2;DP=81;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=55.68;QD=27.65;SOR=0.887	GT:AD:DP:GQ:PL	1/1:0,77:77:99:3031,231,0
+20	10009400	.	T	A	3013.06	.	AC=2;AF=1.00;AN=2;DP=75;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=29.48;SOR=0.804	GT:AD:DP:GQ:PL	1/1:0,74:74:99:3027,223,0
+20	10009512	.	C	G	3054.06	.	AC=2;AF=1.00;AN=2;DP=80;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=58.53;QD=30.56;SOR=1.223	GT:AD:DP:GQ:PL	1/1:0,77:77:99:3068,231,0
+20	10009719	.	A	G	1901.06	.	AC=2;AF=1.00;AN=2;DP=65;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=59.71;QD=33.35;SOR=1.047	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1915,170,0
+20	10009795	.	A	G	1895.06	.	AC=2;AF=1.00;AN=2;DP=49;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=59.62;QD=33.63;SOR=1.514	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1909,141,0
+20	10009842	.	G	GAA	562.60	.	AC=1;AF=0.500;AN=2;BaseQRankSum=0.383;DP=52;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=53.85;MQRankSum=-0.936;QD=16.07;ReadPosRankSum=1.757;SOR=0.602	GT:AD:DP:GQ:PL	0/1:19,16:35:99:570,0,691
+20	10009844	.	G	A	683.64	.	AC=1;AF=0.500;AN=2;BaseQRankSum=1.116;DP=54;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=53.61;MQRankSum=0.975;QD=19.53;ReadPosRankSum=-2.419;SOR=0.793	GT:AD:DP:GQ:PL	0/1:16,19:35:99:691,0,585
+20	10009871	.	A	G	679.64	.	AC=1;AF=0.500;AN=2;BaseQRankSum=-0.803;DP=62;ExcessHet=0.0000;FS=1.273;MLEAC=1;MLEAF=0.500;MQ=51.11;MQRankSum=1.336;QD=18.37;ReadPosRankSum=0.840;SOR=0.631	GT:AD:DP:GQ:PL	0/1:18,19:37:99:687,0,593
+20	10009875	.	A	G,AGGGAGG	2389.06	.	AC=1,1;AF=0.500,0.500;AN=2;BaseQRankSum=0.378;DP=58;ExcessHet=0.0000;FS=6.463;MLEAC=1,1;MLEAF=0.500,0.500;MQ=50.44;MQRankSum=1.413;QD=30.55;ReadPosRankSum=1.373;SOR=0.461	GT:AD:DP:GQ:PL	1/2:2,15,14:31:99:2406,645,532,697,0,574
+20	10009879	.	A	G	2259.06	.	AC=2;AF=1.00;AN=2;BaseQRankSum=1.534;DP=53;ExcessHet=0.0000;FS=8.605;MLEAC=2;MLEAF=1.00;MQ=50.48;MQRankSum=1.681;QD=32.62;ReadPosRankSum=1.113;SOR=1.198	GT:AD:DP:GQ:PL	1/1:2,51:53:99:2273,150,0
+20	10009883	.	A	G	2166.06	.	AC=2;AF=1.00;AN=2;DP=52;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=50.81;QD=29.33;SOR=1.755	GT:AD:DP:GQ:PL	1/1:0,49:49:99:2180,147,0
+20	10010393	.	T	G	1473.99	.	AC=2;AF=0.667;AN=3;BaseQRankSum=-3.351;DP=79;FS=11.600;MLEAC=2;MLEAF=0.667;MQ=59.42;MQRankSum=-1.284;QD=18.66;ReadPosRankSum=-1.738;SOR=0.606	GT:AD:DP:GQ:PL	0/1/1:36,43:79:22:1484,22,0,1221
+20	10010536	.	G	GA	2453.32	.	AC=3;AF=1.00;AN=3;DP=92;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=61.74;QD=30.67;SOR=0.850	GT:AD:DP:GQ:PL	1/1/1:0,80:80:99:2469,381,141,0
+20	10010766	.	T	G	2424.36	.	AC=3;AF=1.00;AN=3;DP=70;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=60.00;QD=35.36;SOR=0.818	GT:AD:DP:GQ:PL	1/1/1:0,66:66:99:2440,315,116,0
+20	10010832	.	T	C	2964.36	.	AC=3;AF=1.00;AN=3;DP=76;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=59.51;QD=34.30;SOR=1.091	GT:AD:DP:GQ:PL	1/1/1:0,75:75:99:2980,358,132,0
+20	10011075	.	C	T	1334.05	.	AC=1;AF=0.333;AN=3;BaseQRankSum=5.364;DP=86;FS=1.800;MLEAC=1;MLEAF=0.333;MQ=60.00;MQRankSum=0.000;QD=16.07;ReadPosRankSum=-1.036;SOR=0.968	GT:AD:DP:GQ:PL	0/0/1:44,39:83:14:1340,0,14,1319
+20	10011309	.	T	C	2705.36	.	AC=3;AF=1.00;AN=3;DP=80;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=60.00;QD=27.00;SOR=1.223	GT:AD:DP:GQ:PL	1/1/1:0,77:77:99:2721,366,135,0
+20	10011517	.	GA	G	526	.	AC=1;AF=0.333;AN=3;BaseQRankSum=0.924;DP=99;FS=2.130;MLEAC=1;MLEAF=0.333;MQ=59.91;MQRankSum=2.041;QD=6.92;ReadPosRankSum=0.603;SOR=0.412	GT:AD:DP:GQ:PL	0/0/1:46,30:76:46:532,0,46,880
+20	10011666	.	C	T	2974.36	.	AC=3;AF=1.00;AN=3;DP=74;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=59.06;QD=30.82;SOR=1.103	GT:AD:DP:GQ:PL	1/1/1:0,73:73:99:2990,348,129,0
+20	10011939	.	C	T	2526.36	.	AC=3;AF=1.00;AN=3;DP=66;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=56.55;QD=29.27;SOR=1.329	GT:AD:DP:GQ:PL	1/1/1:0,62:62:99:2542,296,109,0
+20	10012021	.	CA	C	1998.32	.	AC=3;AF=1.00;AN=3;DP=71;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=57.12;QD=30.28;SOR=1.196	GT:AD:DP:GQ:PL	1/1/1:0,66:66:99:2014,314,116,0
+20	10012362	.	G	T	848.36	.	AC=3;AF=1.00;AN=3;DP=25;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=54.31;QD=35.92;SOR=4.003	GT:AD:DP:GQ:PL	1/1/1:0,23:23:40:864,109,40,0
+20	10012384	.	T	C	250.21	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-1.773;DP=18;FS=7.375;MLEAC=1;MLEAF=0.333;MQ=53.38;MQRankSum=-0.811;QD=13.90;ReadPosRankSum=0.800;SOR=0.044	GT:AD:DP:GQ:PL	0/0/1:10,8:18:6:256,0,6,353
+20	10012387	.	T	C	546.34	.	AC=3;AF=1.00;AN=3;DP=18;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=53.38;QD=32.14;SOR=3.383	GT:AD:DP:GQ:PL	1/1/1:0,17:17:29:562,78,29,0
+20	10012479	.	A	G	587.34	.	AC=3;AF=1.00;AN=3;DP=18;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=51.29;QD=34.55;SOR=0.804	GT:AD:DP:GQ:PL	1/1/1:0,17:17:29:603,79,29,0
+20	10012498	.	C	G	434.23	.	AC=3;AF=1.00;AN=3;DP=10;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=43.25;QD=29.63;SOR=1.609	GT:AD:DP:GQ:PL	1/1/1:0,10:10:18:450,48,18,0
+20	10012518	.	T	C	464.25	.	AC=3;AF=1.00;AN=3;DP=12;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=43.58;QD=28.76;SOR=1.270	GT:AD:DP:GQ:PL	1/1/1:0,11:11:19:480,52,19,0
+20	10012521	.	C	T	97.07	.	AC=1;AF=0.333;AN=3;BaseQRankSum=1.517;DP=12;FS=0.000;MLEAC=1;MLEAF=0.333;MQ=40.86;MQRankSum=-0.376;QD=8.09;ReadPosRankSum=2.405;SOR=0.693	GT:AD:DP:GQ:PL	0/0/1:8,4:12:12:103,0,12,224
+20	10012570	.	G	GCA	479.21	.	AC=3;AF=1.00;AN=3;DP=11;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=39.52;QD=29.94;SOR=3.442	GT:AD:DP:GQ:PL	1/1/1:0,11:11:19:495,52,19,0
+20	10012572	.	GT	G	479.21	.	AC=3;AF=1.00;AN=3;DP=12;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=40.60;QD=31.54;SOR=3.442	GT:AD:DP:GQ:PL	1/1/1:0,11:11:19:495,52,19,0
+20	10012631	.	C	CG	513.88	.	AC=2;AF=0.667;AN=3;BaseQRankSum=-1.030;DP=21;FS=8.822;MLEAC=2;MLEAF=0.667;MQ=48.34;MQRankSum=-1.670;QD=24.47;ReadPosRankSum=-1.777;SOR=0.048	GT:AD:DP:GQ:PL	0/1/1:8,13:21:15:524,15,0,299
+20	10012636	.	G	C	548.97	.	AC=2;AF=0.667;AN=3;BaseQRankSum=2.711;DP=22;FS=5.959;MLEAC=2;MLEAF=0.667;MQ=48.93;MQRankSum=-1.513;QD=24.95;ReadPosRankSum=-1.777;SOR=0.058	GT:AD:DP:GQ:PL	0/1/1:8,14:22:18:559,18,0,297
+20	10012714	.	G	C	1313.36	.	AC=3;AF=1.00;AN=3;DP=36;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=52.52;QD=28.86;SOR=2.964	GT:AD:DP:GQ:PL	1/1/1:0,35:35:62:1329,167,62,0
+20	10012751	.	T	C	950.36	.	AC=3;AF=1.00;AN=3;DP=31;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=50.73;QD=31.68;SOR=0.976	GT:AD:DP:GQ:PL	1/1/1:0,30:30:52:966,140,52,0
+20	10013119	.	C	T	1018.56	.	AC=2;AF=0.667;AN=3;BaseQRankSum=2.724;DP=61;FS=2.248;MLEAC=1;MLEAF=0.333;MQ=51.43;MQRankSum=-1.089;QD=17.26;ReadPosRankSum=0.159;SOR=0.405	GT:AD:DP:GQ:PL	0/1/1:29,30:59:3:1026,3,0,922
+20	10013574	.	G	A	1066.03	.	AC=1;AF=0.333;AN=3;BaseQRankSum=3.469;DP=73;FS=7.109;MLEAC=1;MLEAF=0.333;MQ=58.17;MQRankSum=-0.271;QD=15.45;ReadPosRankSum=0.706;SOR=1.675	GT:AD:DP:GQ:PL	0/0/1:38,31:69:21:1072,0,21,1294
+20	10014990	.	C	CAT	1249.52	.	AC=2;AF=0.667;AN=3;BaseQRankSum=1.930;DP=89;FS=2.076;MLEAC=1;MLEAF=0.333;MQ=60.88;MQRankSum=3.260;QD=16.23;ReadPosRankSum=-0.311;SOR=0.429	GT:AD:DP:GQ:PL	0/1/1:38,39:77:3:1257,3,0,1229
+20	10015679	.	C	T	160.79	.	AC=1;AF=0.333;AN=3;BaseQRankSum=0.200;DP=10;FS=0.000;MLEAC=1;MLEAF=0.333;MQ=60.00;MQRankSum=0.000;QD=16.08;ReadPosRankSum=0.497;SOR=0.693	GT:AD:DP:GQ:PL	0/0/1:5,5:10:0:166,0,0,163
+20	10015761	.	T	C	362.98	.	AC=2;AF=0.667;AN=3;BaseQRankSum=-1.982;DP=23;FS=0.000;MLEAC=2;MLEAF=0.667;MQ=58.99;MQRankSum=1.294;QD=16.50;ReadPosRankSum=1.805;SOR=0.352	GT:AD:DP:GQ:PL	0/1/1:9,13:22:11:373,11,0,284
+20	10018158	.	G	C	1646.99	.	AC=2;AF=0.667;AN=3;BaseQRankSum=5.213;DP=94;FS=0.808;MLEAC=2;MLEAF=0.667;MQ=59.80;MQRankSum=1.118;QD=18.72;ReadPosRankSum=1.179;SOR=0.834	GT:AD:DP:GQ:PL	0/1/1:40,48:88:24:1657,24,0,1154
+20	10018555	.	G	A	1581	.	AC=2;AF=0.667;AN=3;BaseQRankSum=-0.627;DP=84;FS=4.241;MLEAC=2;MLEAF=0.667;MQ=60.00;MQRankSum=0.000;QD=19.76;ReadPosRankSum=0.815;SOR=0.627	GT:AD:DP:GQ:PL	0/1/1:35,45:80:30:1591,30,0,1206
+20	10019093	.	A	G	1250.05	.	AC=2;AF=0.667;AN=3;BaseQRankSum=0.452;DP=73;FS=1.990;MLEAC=2;MLEAF=0.667;MQ=59.68;MQRankSum=1.073;QD=18.12;ReadPosRankSum=-0.252;SOR=0.665	GT:AD:DP:GQ:PL	0/1/1:33,36:69:10:1260,10,0,1091
+20	10020229	.	G	A	1559.26	.	AC=2;AF=0.500;AN=4;BaseQRankSum=5.792;DP=84;FS=0.833;MLEAC=2;MLEAF=0.500;MQ=59.50;MQRankSum=0.104;QD=19.02;ReadPosRankSum=-0.549;SOR=0.573	GT:AD:DP:GQ:PL	0/0/1/1:38,44:82:37:1567,66,0,37,1130
+20	10023689	.	G	A	1874.21	.	AC=3;AF=0.750;AN=4;BaseQRankSum=2.144;DP=82;FS=0.877;MLEAC=2;MLEAF=0.500;MQ=59.77;MQRankSum=1.352;QD=23.43;ReadPosRankSum=1.162;SOR=0.549	GT:AD:DP:GQ:PL	0/1/1/1:29,51:80:3:1883,105,3,0,948
+20	10024107	.	C	T	1715.26	.	AC=2;AF=0.500;AN=4;BaseQRankSum=5.770;DP=89;FS=0.817;MLEAC=2;MLEAF=0.500;MQ=59.43;MQRankSum=-1.546;QD=19.94;ReadPosRankSum=0.148;SOR=0.823	GT:AD:DP:GQ:PL	0/0/1/1:38,48:86:29:1723,78,0,29,1086
+20	10024300	.	CTT	C,CTTTT	191.75	.	AC=1,2;AF=0.250,0.500;AN=4;BaseQRankSum=1.975;DP=53;FS=2.963;MLEAC=1,1;MLEAF=0.250,0.250;MQ=52.89;MQRankSum=-1.143;QD=13.70;ReadPosRankSum=-0.297;SOR=1.981	GT:AD:DP:GQ:PL	0/1/2/2:2,4,8:14:12:198,123,140,182,447,100,12,19,80,92,0,46,101,38,202
+20	10026357	.	T	C	1187.27	.	AC=2;AF=0.500;AN=4;BaseQRankSum=-1.700;DP=63;FS=8.911;MLEAC=2;MLEAF=0.500;MQ=58.43;MQRankSum=-0.148;QD=18.85;ReadPosRankSum=-0.076;SOR=0.722	GT:AD:DP:GQ:PL	0/0/1/1:28,35:63:23:1195,56,0,23,932
+20	10026794	.	C	T	1107.28	.	AC=2;AF=0.500;AN=4;BaseQRankSum=2.828;DP=56;FS=2.399;MLEAC=2;MLEAF=0.500;MQ=59.59;MQRankSum=-0.719;QD=21.29;ReadPosRankSum=-0.533;SOR=0.428	GT:AD:DP:GQ:PL	0/0/1/1:19,33:52:0:1114,65,0,0,529
+20	10027234	.	A	ATTAG	1350.22	.	AC=2;AF=0.500;AN=4;BaseQRankSum=-0.406;DP=75;FS=3.248;MLEAC=2;MLEAF=0.500;MQ=57.44;MQRankSum=-0.845;QD=19.57;ReadPosRankSum=-0.510;SOR=0.926	GT:AD:DP:GQ:PL	0/0/1/1:34,35:69:41:1358,45,0,41,1320
+20	10027868	.	A	G	1760.26	.	AC=2;AF=0.500;AN=4;BaseQRankSum=-5.793;DP=91;FS=6.873;MLEAC=2;MLEAF=0.500;MQ=59.49;MQRankSum=0.047;QD=19.56;ReadPosRankSum=1.872;SOR=0.937	GT:AD:DP:GQ:PL	0/0/1/1:44,46:90:51:1768,61,0,51,1671
+20	10027872	.	A	G	1745.26	.	AC=2;AF=0.500;AN=4;BaseQRankSum=-5.491;DP=88;FS=8.704;MLEAC=2;MLEAF=0.500;MQ=59.48;MQRankSum=0.065;QD=20.06;ReadPosRankSum=1.053;SOR=0.834	GT:AD:DP:GQ:PL	0/0/1/1:42,45:87:47:1753,61,0,47,1606
+20	10028867	.	A	ATG	1137.23	.	AC=2;AF=0.500;AN=4;BaseQRankSum=-0.874;DP=93;FS=4.652;MLEAC=2;MLEAF=0.500;MQ=60.68;MQRankSum=2.711;QD=16.02;ReadPosRankSum=0.630;SOR=0.336	GT:AD:DP:GQ:PL	0/0/1/1:32,39:71:28:1145,60,0,28,915
+20	10030188	.	T	A	1378.12	.	AC=1;AF=0.333;AN=3;BaseQRankSum=0.711;DP=82;FS=9.186;MLEAC=1;MLEAF=0.333;MQ=59.49;MQRankSum=-1.013;QD=17.01;ReadPosRankSum=-0.553;SOR=1.105	GT:AD:DP:GQ:PL	0/0/1:42,39:81:9:1384,0,9,1508
+20	10031254	.	A	AT	1482.96	.	AC=2;AF=0.667;AN=3;BaseQRankSum=-0.091;DP=90;FS=9.250;MLEAC=2;MLEAF=0.667;MQ=59.91;MQRankSum=0.017;QD=17.45;ReadPosRankSum=0.663;SOR=0.211	GT:AD:DP:GQ:PL	0/1/1:38,47:85:27:1493,27,0,1151
+20	10031342	.	G	A	1846.01	.	AC=2;AF=0.667;AN=3;BaseQRankSum=1.833;DP=93;FS=1.714;MLEAC=2;MLEAF=0.667;MQ=59.75;MQRankSum=-0.866;QD=19.85;ReadPosRankSum=-0.012;SOR=0.955	GT:AD:DP:GQ:PL	0/1/1:41,52:93:33:1856,33,0,1367
+20	10031798	.	G	A	4309.36	.	AC=3;AF=1.00;AN=3;DP=107;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=59.61;QD=29.41;SOR=0.900	GT:AD:DP:GQ:PL	1/1/1:0,104:104:99:4325,496,183,0
+20	10031827	.	C	T	2000.94	.	AC=2;AF=0.667;AN=3;BaseQRankSum=3.552;DP=115;FS=4.729;MLEAC=2;MLEAF=0.667;MQ=59.84;MQRankSum=-0.945;QD=18.53;ReadPosRankSum=-1.396;SOR=0.382	GT:AD:DP:GQ:PL	0/1/1:52,56:108:12:2011,12,0,1776
+20	10032094	.	G	A	1238.02	.	AC=1;AF=0.333;AN=3;BaseQRankSum=5.488;DP=86;FS=6.039;MLEAC=1;MLEAF=0.333;MQ=60.00;MQRankSum=0.000;QD=14.92;ReadPosRankSum=-0.579;SOR=0.260	GT:AD:DP:GQ:PL	0/0/1:47,36:83:32:1244,0,32,1492
+20	10032413	.	T	G	881.07	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-6.142;DP=66;FS=10.444;MLEAC=1;MLEAF=0.333;MQ=59.43;MQRankSum=-0.065;QD=13.35;ReadPosRankSum=-1.003;SOR=1.293	GT:AD:DP:GQ:PL	0/0/1:35,31:66:12:887,0,12,1266
+20	10032882	.	A	T	1210.12	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-3.697;DP=76;FS=4.673;MLEAC=1;MLEAF=0.333;MQ=59.70;MQRankSum=-1.014;QD=16.13;ReadPosRankSum=0.626;SOR=0.338	GT:AD:DP:GQ:PL	0/0/1:39,36:75:9:1216,0,9,1391
+20	10032972	.	C	CAT	1143.08	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-0.354;DP=67;FS=5.062;MLEAC=1;MLEAF=0.333;MQ=59.66;MQRankSum=-1.017;QD=18.14;ReadPosRankSum=-0.723;SOR=1.300	GT:AD:DP:GQ:PL	0/0/1:33,30:63:9:1149,0,9,1284
+20	10034306	.	T	C	812.02	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-3.661;DP=80;FS=0.890;MLEAC=1;MLEAF=0.333;MQ=59.48;MQRankSum=1.150;QD=10.83;ReadPosRankSum=0.539;SOR=0.685	GT:AD:DP:GQ:PL	0/0/1:46,29:75:52:818,0,52,1600
+20	10036930	.	CGATAGCCCTAGCCCTAGATA	C	1060.99	.	AC=1;AF=0.333;AN=3;BaseQRankSum=0.720;DP=98;FS=11.152;MLEAC=1;MLEAF=0.333;MQ=54.46;MQRankSum=-4.048;QD=15.60;ReadPosRankSum=0.460;SOR=0.269	GT:AD:DP:GQ:PL	0/0/1:39,29:68:26:1067,0,26,1503
+20	10037037	.	C	T	1439.94	.	AC=2;AF=0.667;AN=3;BaseQRankSum=3.504;DP=88;FS=1.943;MLEAC=2;MLEAF=0.667;MQ=60.08;MQRankSum=-1.193;QD=17.78;ReadPosRankSum=-1.609;SOR=0.495	GT:AD:DP:GQ:PL	0/1/1:39,42:81:12:1450,12,0,1110
+20	10037110	.	T	TGATA	2802.32	.	AC=3;AF=1.00;AN=3;DP=84;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=55.01;QD=31.11;SOR=0.933	GT:AD:DP:GQ:PL	1/1/1:0,63:63:99:2818,300,110,0
+20	10037144	.	T	TGATAGATA	1845.32	.	AC=3;AF=1.00;AN=3;DP=81;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=53.21;QD=34.66;SOR=1.179	GT:AD:DP:GQ:PL	1/1/1:0,43:43:74:1861,202,74,0
+20	10037709	.	A	T	1019.03	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-2.367;DP=73;FS=0.000;MLEAC=1;MLEAF=0.333;MQ=59.68;MQRankSum=0.934;QD=14.35;ReadPosRankSum=0.040;SOR=0.608	GT:AD:DP:GQ:PL	0/0/1:39,32:71:22:1025,0,22,1347
+20	10039371	.	T	G	1332.97	.	AC=2;AF=0.667;AN=3;BaseQRankSum=-3.260;DP=76;FS=6.144;MLEAC=2;MLEAF=0.667;MQ=60.00;MQRankSum=0.000;QD=18.01;ReadPosRankSum=0.391;SOR=1.031	GT:AD:DP:GQ:PL	0/1/1:34,40:74:18:1343,18,0,1184
+20	10040772	.	C	CT	2018.32	.	AC=3;AF=1.00;AN=3;DP=85;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=52.32;QD=28.83;SOR=0.811	GT:AD:DP:GQ:PL	1/1/1:0,70:70:99:2034,333,123,0
+20	10040812	.	AT	A	2629.32	.	AC=3;AF=1.00;AN=3;DP=83;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=51.21;QD=29.40;SOR=0.721	GT:AD:DP:GQ:PL	1/1/1:0,71:71:99:2645,339,125,0
+20	10040821	.	T	A	1174.63	.	AC=2;AF=0.667;AN=3;BaseQRankSum=-0.021;DP=84;FS=0.000;MLEAC=1;MLEAF=0.333;MQ=51.33;MQRankSum=-0.097;QD=15.06;ReadPosRankSum=-1.350;SOR=0.688	GT:AD:DP:GQ:PL	0/1/1:38,40:78:7:1184,7,0,1083
+20	10041304	.	C	T	2778.36	.	AC=3;AF=1.00;AN=3;DP=68;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=59.39;QD=36.76;SOR=0.693	GT:AD:DP:GQ:PL	1/1/1:0,68:68:99:2794,324,119,0
+20	10041698	.	C	CAT	60.98	.	AC=1;AF=0.333;AN=3;BaseQRankSum=1.887;DP=80;FS=1.616;MLEAC=1;MLEAF=0.333;MQ=58.63;MQRankSum=0.194;QD=1.07;ReadPosRankSum=-0.164;SOR=1.148	GT:AD:DP:GQ:PL	0/0/1:50,7:57:67:67,0,129,1477
+20	10041701	.	A	ATATG	1478.97	.	AC=2;AF=0.667;AN=3;BaseQRankSum=0.848;DP=80;FS=3.477;MLEAC=2;MLEAF=0.667;MQ=58.93;MQRankSum=0.340;QD=25.07;ReadPosRankSum=-0.023;SOR=0.260	GT:AD:DP:GQ:PL	0/1/1:9,50:59:99:1489,124,0,104
+20	10042319	.	C	T	2671.36	.	AC=3;AF=1.00;AN=3;DP=69;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=59.06;QD=30.54;SOR=1.033	GT:AD:DP:GQ:PL	1/1/1:0,66:66:99:2687,315,116,0
+20	10042761	.	A	G	3566.36	.	AC=3;AF=1.00;AN=3;DP=94;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=60.00;QD=21.53;SOR=1.389	GT:AD:DP:GQ:PL	1/1/1:0,91:91:99:3582,431,159,0
+20	10042829	.	A	G	3068.36	.	AC=3;AF=1.00;AN=3;DP=82;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=59.77;QD=34.87;SOR=0.855	GT:AD:DP:GQ:PL	1/1/1:0,78:78:99:3084,372,137,0
+20	10043002	.	A	T	1303.02	.	AC=1;AF=0.333;AN=3;BaseQRankSum=3.986;DP=89;FS=2.877;MLEAC=1;MLEAF=0.333;MQ=60.00;MQRankSum=0.000;QD=15.15;ReadPosRankSum=-0.035;SOR=0.434	GT:AD:DP:GQ:PL	0/0/1:48,38:86:30:1309,0,30,1651
+20	10044849	.	A	G	2104.36	.	AC=3;AF=1.00;AN=3;DP=59;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=59.61;QD=31.04;SOR=1.316	GT:AD:DP:GQ:PL	1/1/1:0,59:59:99:2120,280,103,0
+20	10045078	.	G	T	3284.36	.	AC=3;AF=1.00;AN=3;DP=84;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=58.78;QD=27.86;SOR=0.876	GT:AD:DP:GQ:PL	1/1/1:0,81:81:99:3300,386,143,0
+20	10045642	.	G	C	3120.36	.	AC=3;AF=1.00;AN=3;DP=82;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=59.49;QD=34.17;SOR=0.821	GT:AD:DP:GQ:PL	1/1/1:0,81:81:99:3136,385,142,0
+20	10046178	.	AAGAAAGAAAG	A	2134.32	.	AC=3;AF=1.00;AN=3;DP=63;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=48.77;QD=28.60;SOR=0.818	GT:AD:DP:GQ:PL	1/1/1:0,49:49:87:2150,236,87,0
+20	10046537	.	A	G	827.56	.	AC=2;AF=0.667;AN=3;BaseQRankSum=-3.909;DP=57;FS=3.724;MLEAC=1;MLEAF=0.333;MQ=54.50;MQRankSum=0.395;QD=14.52;ReadPosRankSum=0.727;SOR=1.262	GT:AD:DP:GQ:PL	0/1/1:28,29:57:3:835,3,0,889
+20	10050828	.	T	C	1246.02	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-2.704;DP=91;FS=2.887;MLEAC=1;MLEAF=0.333;MQ=59.54;MQRankSum=0.892;QD=14.49;ReadPosRankSum=-0.140;SOR=0.521	GT:AD:DP:GQ:PL	0/0/1:49,37:86:35:1252,0,35,1764
+20	10051448	.	T	C	1139.79	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-0.501;DP=71;FS=3.687;MLEAC=1;MLEAF=0.333;MQ=59.41;MQRankSum=-1.404;QD=16.28;ReadPosRankSum=-0.705;SOR=0.302	GT:AD:DP:GQ:PL	0/0/1:35,35:70:0:1145,0,0,1132
+20	10052688	.	C	A	1085.02	.	AC=1;AF=0.333;AN=3;BaseQRankSum=0.180;DP=83;FS=3.135;MLEAC=1;MLEAF=0.333;MQ=59.78;MQRankSum=0.870;QD=14.09;ReadPosRankSum=1.443;SOR=0.379	GT:AD:DP:GQ:PL	0/0/1:45,32:77:39:1091,0,39,1645
+20	10058022	.	T	C	987.06	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-2.346;DP=72;FS=0.920;MLEAC=1;MLEAF=0.333;MQ=59.16;MQRankSum=0.466;QD=14.52;ReadPosRankSum=0.018;SOR=0.849	GT:AD:DP:GQ:PL	0/0/1:36,32:68:13:993,0,13,1251
+20	10067049	.	TAAAAAAA	T	534.01	.	AC=1;AF=1.00;AN=1;BaseQRankSum=-0.674;DP=73;FS=0.000;MLEAC=1;MLEAF=1.00;MQ=54.73;MQRankSum=-0.605;QD=24.27;ReadPosRankSum=-1.645;SOR=0.892	GT:AD:DP:GQ:PL	1:2,20:22:99:544,0
+20	10067090	.	C	A	2023.04	.	AC=1;AF=1.00;AN=1;DP=56;FS=0.000;MLEAC=1;MLEAF=1.00;MQ=54.57;QD=25.57;SOR=0.729	GT:AD:DP:GQ:PL	1:0,55:55:99:2033,0
+20	10067264	.	G	A	2941.04	.	AC=1;AF=1.00;AN=1;DP=73;FS=0.000;MLEAC=1;MLEAF=1.00;MQ=59.37;QD=33.11;SOR=0.776	GT:AD:DP:GQ:PL	1:0,73:73:99:2951,0
+20	10067722	.	A	C	2165.04	.	AC=1;AF=1.00;AN=1;DP=59;FS=0.000;MLEAC=1;MLEAF=1.00;MQ=60.00;QD=30.20;SOR=0.846	GT:AD:DP:GQ:PL	1:0,54:54:99:2175,0
+20	10068158	.	GTGTATATATATA	G	38.01	.	AC=1;AF=1.00;AN=1;BaseQRankSum=-0.842;DP=28;FS=3.680;MLEAC=1;MLEAF=1.00;MQ=56.62;MQRankSum=0.328;QD=5.43;ReadPosRankSum=0.524;SOR=0.061	GT:AD:DP:GQ:PL	1:3,4:7:48:48,0
+20	10068981	.	G	A	2522.04	.	AC=1;AF=1.00;AN=1;DP=65;FS=0.000;MLEAC=1;MLEAF=1.00;MQ=60.00;QD=30.49;SOR=0.941	GT:AD:DP:GQ:PL	1:0,61:61:99:2532,0
+20	10070602	.	T	C	2710.04	.	AC=1;AF=1.00;AN=1;DP=76;FS=0.000;MLEAC=1;MLEAF=1.00;MQ=58.78;QD=31.67;SOR=0.749	GT:AD:DP:GQ:PL	1:0,72:72:99:2720,0
+20	10070936	.	T	A	3650.04	.	AC=1;AF=1.00;AN=1;DP=86;FS=0.000;MLEAC=1;MLEAF=1.00;MQ=58.96;QD=29.53;SOR=0.846	GT:AD:DP:GQ:PL	1:0,82:82:99:3660,0
+20	10070938	.	G	GA	3684.01	.	AC=1;AF=1.00;AN=1;DP=85;FS=0.000;MLEAC=1;MLEAF=1.00;MQ=59.07;QD=32.63;SOR=0.818	GT:AD:DP:GQ:PL	1:0,83:83:99:3694,0
+20	10071135	.	C	T	3276.04	.	AC=1;AF=1.00;AN=1;DP=88;FS=0.000;MLEAC=1;MLEAF=1.00;MQ=59.21;QD=30.36;SOR=1.003	GT:AD:DP:GQ:PL	1:0,79:79:99:3286,0
+20	10071187	.	G	A	3429.04	.	AC=1;AF=1.00;AN=1;DP=85;FS=0.000;MLEAC=1;MLEAF=1.00;MQ=59.73;QD=28.13;SOR=1.367	GT:AD:DP:GQ:PL	1:0,82:82:99:3439,0
+20	10071890	.	T	C	1993.04	.	AC=1;AF=1.00;AN=1;DP=61;FS=0.000;MLEAC=1;MLEAF=1.00;MQ=59.31;QD=34.97;SOR=0.728	GT:AD:DP:GQ:PL	1:0,57:57:99:2003,0
+20	10072505	.	A	G	2118.04	.	AC=1;AF=1.00;AN=1;DP=67;FS=0.000;MLEAC=1;MLEAF=1.00;MQ=60.00;QD=33.09;SOR=0.822	GT:AD:DP:GQ:PL	1:0,64:64:99:2128,0
+20	10074187	.	A	G	3120.04	.	AC=1;AF=1.00;AN=1;DP=81;FS=0.000;MLEAC=1;MLEAF=1.00;MQ=59.14;QD=27.97;SOR=0.881	GT:AD:DP:GQ:PL	1:0,79:79:99:3130,0
+20	10074240	.	T	C	3425.04	.	AC=1;AF=1.00;AN=1;DP=89;FS=0.000;MLEAC=1;MLEAF=1.00;MQ=59.79;QD=28.31;SOR=0.922	GT:AD:DP:GQ:PL	1:0,85:85:99:3435,0
+20	10074716	.	G	A	2419.04	.	AC=1;AF=1.00;AN=1;DP=70;FS=0.000;MLEAC=1;MLEAF=1.00;MQ=59.67;QD=35.21;SOR=1.214	GT:AD:DP:GQ:PL	1:0,64:64:99:2429,0
+20	10074806	.	G	A	2836.04	.	AC=1;AF=1.00;AN=1;DP=75;FS=0.000;MLEAC=1;MLEAF=1.00;MQ=59.38;QD=35.18;SOR=0.840	GT:AD:DP:GQ:PL	1:0,71:71:99:2846,0
+20	10075043	.	T	C	2424.04	.	AC=1;AF=1.00;AN=1;DP=64;FS=0.000;MLEAC=1;MLEAF=1.00;MQ=59.64;QD=29.59;SOR=1.107	GT:AD:DP:GQ:PL	1:0,61:61:99:2434,0
+20	10075168	.	C	T	3631.04	.	AC=1;AF=1.00;AN=1;DP=91;FS=0.000;MLEAC=1;MLEAF=1.00;MQ=59.37;QD=32.25;SOR=0.997	GT:AD:DP:GQ:PL	1:0,88:88:99:3641,0
+20	10075508	.	GA	G	1956.01	.	AC=1;AF=1.00;AN=1;DP=81;FS=0.000;MLEAC=1;MLEAF=1.00;MQ=61.11;QD=27.94;SOR=1.085	GT:AD:DP:GQ:PL	1:0,70:70:99:1966,0
+20	10076339	.	A	G	293.04	.	AC=1;AF=1.00;AN=1;BaseQRankSum=-0.069;DP=76;FS=1.992;MLEAC=1;MLEAF=1.00;MQ=59.70;MQRankSum=-0.866;QD=4.07;ReadPosRankSum=1.015;SOR=0.446	GT:AD:DP:GQ:PL	1:32,40:72:99:303,0
+20	10076399	.	G	A	282.04	.	AC=1;AF=1.00;AN=1;BaseQRankSum=4.154;DP=95;FS=1.680;MLEAC=1;MLEAF=1.00;MQ=60.00;MQRankSum=0.000;QD=3.00;ReadPosRankSum=-1.058;SOR=0.952	GT:AD:DP:GQ:PL	1:44,50:94:99:292,0
+20	10077752	.	T	C	178.04	.	AC=1;AF=1.00;AN=1;BaseQRankSum=-6.503;DP=83;FS=4.458;MLEAC=1;MLEAF=1.00;MQ=60.00;MQRankSum=0.000;QD=2.25;ReadPosRankSum=-0.352;SOR=1.251	GT:AD:DP:GQ:PL	1:34,45:79:99:188,0
+20	10081750	.	C	A	1362.05	.	AC=1;AF=0.333;AN=3;BaseQRankSum=2.670;DP=92;FS=0.824;MLEAC=1;MLEAF=0.333;MQ=60.00;MQRankSum=0.000;QD=16.41;ReadPosRankSum=-0.406;SOR=0.664	GT:AD:DP:GQ:PL	0/0/1:44,39:83:14:1368,0,14,1511
+20	10081800	.	C	T	1118.21	.	AC=1;AF=0.333;AN=3;BaseQRankSum=0.241;DP=69;FS=11.086;MLEAC=1;MLEAF=0.333;MQ=60.00;MQRankSum=0.000;QD=16.44;ReadPosRankSum=-2.622;SOR=0.143	GT:AD:DP:GQ:PL	0/0/1:35,33:68:6:1124,0,6,1208
+20	10082892	.	C	T	1725.36	.	AC=3;AF=1.00;AN=3;DP=45;FS=0.000;MLEAC=3;MLEAF=1.00;MQ=59.49;QD=34.86;SOR=0.883	GT:AD:DP:GQ:PL	1/1/1:0,44:44:77:1741,209,77,0
+20	10085211	.	A	T	1220.07	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-1.501;DP=81;FS=0.870;MLEAC=1;MLEAF=0.333;MQ=59.72;MQRankSum=-1.028;QD=16.05;ReadPosRankSum=-1.405;SOR=0.723	GT:AD:DP:GQ:PL	0/0/1:40,36:76:12:1226,0,12,1429
+20	10086110	.	G	A	1284.05	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-0.343;DP=83;FS=1.810;MLEAC=1;MLEAF=0.333;MQ=59.16;MQRankSum=-0.680;QD=15.85;ReadPosRankSum=0.170;SOR=0.495	GT:AD:DP:GQ:PL	0/0/1:43,38:81:15:1290,0,15,1493
+20	10086283	.	G	T	1056.02	.	AC=1;AF=0.333;AN=3;BaseQRankSum=2.304;DP=86;FS=0.855;MLEAC=1;MLEAF=0.333;MQ=60.00;MQRankSum=0.000;QD=12.57;ReadPosRankSum=1.889;SOR=0.529	GT:AD:DP:GQ:PL	0/0/1:52,32:84:60:1062,0,60,1779
+20	10086619	.	T	A	831.02	.	AC=1;AF=0.333;AN=3;BaseQRankSum=0.256;DP=76;FS=0.958;MLEAC=1;MLEAF=0.333;MQ=59.70;MQRankSum=-1.312;QD=11.87;ReadPosRankSum=-0.760;SOR=0.846	GT:AD:DP:GQ:PL	0/0/1:45,25:70:60:837,0,60,1616
+20	10086853	.	G	A	1020.02	.	AC=1;AF=0.333;AN=3;BaseQRankSum=3.915;DP=75;FS=0.000;MLEAC=1;MLEAF=0.333;MQ=59.44;MQRankSum=-0.177;QD=13.97;ReadPosRankSum=-0.100;SOR=0.767	GT:AD:DP:GQ:PL	0/0/1:41,32:73:28:1026,0,28,1276
+20	10086954	.	G	A	1101.63	.	AC=1;AF=0.333;AN=3;BaseQRankSum=2.606;DP=70;FS=4.812;MLEAC=1;MLEAF=0.333;MQ=60.00;MQRankSum=0.000;QD=16.20;ReadPosRankSum=-0.534;SOR=1.185	GT:AD:DP:GQ:PL	0/0/1:34,34:68:1:1107,0,1,1034
+20	10087230	.	A	G	1855.01	.	AC=2;AF=0.667;AN=3;BaseQRankSum=-2.407;DP=101;FS=3.860;MLEAC=2;MLEAF=0.667;MQ=58.94;MQRankSum=1.707;QD=19.32;ReadPosRankSum=0.307;SOR=0.960	GT:AD:DP:GQ:PL	0/1/1:42,54:96:36:1865,36,0,1421
+20	10087394	.	T	G	1707.01	.	AC=2;AF=0.667;AN=3;BaseQRankSum=-2.340;DP=85;FS=4.225;MLEAC=2;MLEAF=0.667;MQ=59.46;MQRankSum=1.207;QD=20.32;ReadPosRankSum=0.885;SOR=0.436	GT:AD:DP:GQ:PL	0/1/1:35,49:84:42:1717,42,0,1186
+20	10087754	.	T	G	1387.92	.	AC=2;AF=0.667;AN=3;BaseQRankSum=0.239;DP=87;FS=0.851;MLEAC=2;MLEAF=0.667;MQ=60.60;MQRankSum=2.166;QD=17.57;ReadPosRankSum=-0.378;SOR=0.596	GT:AD:DP:GQ:PL	0/1/1:37,42:79:14:1398,14,0,1223
+20	10087804	.	C	T	1617	.	AC=2;AF=0.667;AN=3;BaseQRankSum=1.940;DP=104;FS=3.847;MLEAC=1;MLEAF=0.333;MQ=60.18;MQRankSum=2.618;QD=16.17;ReadPosRankSum=0.341;SOR=0.369	GT:AD:DP:GQ:PL	0/1/1:50,50:100:1:1623,1,0,1486
+20	10087820	.	C	CAG	474.98	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-1.974;DP=103;FS=0.000;MLEAC=1;MLEAF=0.333;MQ=60.51;MQRankSum=0.422;QD=8.64;ReadPosRankSum=-0.019;SOR=0.850	GT:AD:DP:GQ:PL	0/0/1:37,18:55:59:481,0,59,1184
+20	10088063	.	C	T	1423.06	.	AC=1;AF=0.333;AN=3;BaseQRankSum=3.405;DP=94;FS=2.739;MLEAC=1;MLEAF=0.333;MQ=59.36;MQRankSum=0.515;QD=15.30;ReadPosRankSum=0.285;SOR=1.053	GT:AD:DP:GQ:PL	0/0/1:49,44:93:13:1429,0,13,1386
+20	10088699	.	C	T	798.02	.	AC=1;AF=0.333;AN=3;BaseQRankSum=3.803;DP=67;FS=16.952;MLEAC=1;MLEAF=0.333;MQ=56.90;MQRankSum=-3.140;QD=12.87;ReadPosRankSum=-1.456;SOR=1.914	GT:AD:DP:GQ:PL	0/0/1:36,26:62:30:804,0,30,1087
+20	10088730	.	G	A	987.07	.	AC=1;AF=0.333;AN=3;BaseQRankSum=0.224;DP=57;FS=9.708;MLEAC=1;MLEAF=0.333;MQ=52.92;MQRankSum=-5.213;QD=17.63;ReadPosRankSum=0.581;SOR=1.011	GT:AD:DP:GQ:PL	0/0/1:30,26:56:12:993,0,12,1144
+20	10088736	.	A	C	1092.21	.	AC=1;AF=0.333;AN=3;BaseQRankSum=0.282;DP=60;FS=7.080;MLEAC=1;MLEAF=0.333;MQ=52.86;MQRankSum=-5.157;QD=18.20;ReadPosRankSum=0.573;SOR=0.850	GT:AD:DP:GQ:PL	0/0/1:31,29:60:6:1098,0,6,1181
+20	10088747	.	A	G	1121.94	.	AC=2;AF=0.667;AN=3;BaseQRankSum=-3.877;DP=56;FS=9.708;MLEAC=2;MLEAF=0.667;MQ=52.20;MQRankSum=-4.881;QD=20.03;ReadPosRankSum=0.009;SOR=1.162	GT:AD:DP:GQ:PL	0/1/1:26,30:56:12:1132,12,0,986
+20	10088799	.	G	A	1037	.	AC=2;AF=0.667;AN=3;BaseQRankSum=5.503;DP=54;FS=10.098;MLEAC=2;MLEAF=0.667;MQ=53.34;MQRankSum=-2.498;QD=19.57;ReadPosRankSum=1.075;SOR=1.003	GT:AD:DP:GQ:PL	0/1/1:22,31:53:27:1047,27,0,617
+20	10088895	.	C	T	554.06	.	AC=1;AF=0.333;AN=3;BaseQRankSum=2.330;DP=43;FS=0.000;MLEAC=1;MLEAF=0.333;MQ=57.80;MQRankSum=0.260;QD=13.85;ReadPosRankSum=1.238;SOR=0.727	GT:AD:DP:GQ:PL	0/0/1:22,18:40:13:560,0,13,647
+20	10088968	.	C	CAAA	1191.75	.	AC=1;AF=0.333;AN=3;BaseQRankSum=0.552;DP=77;FS=0.000;MLEAC=1;MLEAF=0.333;MQ=52.81;MQRankSum=-5.145;QD=18.62;ReadPosRankSum=0.629;SOR=0.693	GT:AD:DP:GQ:PL	0/0/1:32,32:64:0:1197,0,0,1220
+20	10088980	.	T	C	1259.05	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-1.585;DP=74;FS=0.000;MLEAC=1;MLEAF=0.333;MQ=51.42;MQRankSum=-5.018;QD=17.25;ReadPosRankSum=1.577;SOR=0.758	GT:AD:DP:GQ:PL	0/0/1:39,34:73:15:1265,0,15,1486
+20	10088985	.	T	C	1197.02	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-0.192;DP=77;FS=0.890;MLEAC=1;MLEAF=0.333;MQ=51.29;MQRankSum=-5.248;QD=16.18;ReadPosRankSum=1.452;SOR=0.742	GT:AD:DP:GQ:PL	0/0/1:42,32:74:30:1203,0,30,1595
+20	10089441	.	A	G	1182.98	.	AC=2;AF=0.667;AN=3;BaseQRankSum=-4.885;DP=79;FS=6.071;MLEAC=1;MLEAF=0.333;MQ=59.71;MQRankSum=-0.948;QD=15.57;ReadPosRankSum=-0.156;SOR=1.363	GT:AD:DP:GQ:PL	0/1/1:37,39:76:6:1192,6,0,1297
+20	10089525	.	C	T	1554.96	.	AC=2;AF=0.667;AN=3;BaseQRankSum=5.859;DP=83;FS=4.260;MLEAC=2;MLEAF=0.667;MQ=59.50;MQRankSum=1.531;QD=19.20;ReadPosRankSum=0.862;SOR=0.617	GT:AD:DP:GQ:PL	0/1/1:38,43:81:16:1565,16,0,1075
+20	10090289	.	CA	C	429.02	.	AC=2;AF=0.667;AN=3;BaseQRankSum=0.296;DP=88;FS=1.377;MLEAC=1;MLEAF=0.333;MQ=59.97;MQRankSum=1.531;QD=11.29;ReadPosRankSum=0.535;SOR=1.127	GT:AD:DP:GQ:PL	0/1/1:14,24:38:28:426,28,0,235
+20	10090764	.	A	G	855.04	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-2.659;DP=67;FS=4.975;MLEAC=1;MLEAF=0.333;MQ=60.00;MQRankSum=0.000;QD=13.57;ReadPosRankSum=1.207;SOR=0.310	GT:AD:DP:GQ:PL	0/0/1:34,29:63:16:861,0,16,1199
+20	10090970	.	T	C	1263.05	.	AC=2;AF=0.667;AN=3;BaseQRankSum=-0.484;DP=70;FS=0.927;MLEAC=2;MLEAF=0.667;MQ=59.47;MQRankSum=1.509;QD=18.31;ReadPosRankSum=-0.072;SOR=0.518	GT:AD:DP:GQ:PL	0/1/1:33,36:69:10:1273,10,0,1080
+20	10091214	.	C	T	1255.94	.	AC=2;AF=0.667;AN=3;BaseQRankSum=0.361;DP=73;FS=0.000;MLEAC=2;MLEAF=0.667;MQ=59.74;MQRankSum=-0.916;QD=17.94;ReadPosRankSum=-0.035;SOR=0.625	GT:AD:DP:GQ:PL	0/1/1:33,37:70:12:1266,12,0,1098
+20	10092415	.	A	G	1637.14	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-6.731;DP=103;FS=0.741;MLEAC=1;MLEAF=0.333;MQ=60.00;MQRankSum=0.000;QD=16.21;ReadPosRankSum=0.082;SOR=0.665	GT:AD:DP:GQ:PL	0/0/1:52,49:101:8:1643,0,8,1880
+20	10092927	.	G	T	180.02	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-2.507;DP=83;FS=60.191;MLEAC=1;MLEAF=0.333;MQ=59.16;MQRankSum=-3.009;QD=2.50;ReadPosRankSum=-0.220;SOR=5.279	GT:AD:DP:GQ:PL	0/0/1:59,13:72:99:186,0,136,1914
+20	10093568	.	GT	G,GTT	381.96	.	AC=1,1;AF=0.333,0.333;AN=3;BaseQRankSum=1.038;DP=62;FS=0.000;MLEAC=1,1;MLEAF=0.333,0.333;MQ=58.80;MQRankSum=0.965;QD=9.09;ReadPosRankSum=0.911;SOR=0.824	GT:AD:DP:GQ:PL	0/1/2:17,21,4:42:39:395,39,42,417,371,0,306,460,353,938
+20	10093923	.	T	A	1086.12	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-0.667;DP=73;FS=0.924;MLEAC=1;MLEAF=0.333;MQ=59.25;MQRankSum=0.358;QD=16.21;ReadPosRankSum=-1.583;SOR=0.772	GT:AD:DP:GQ:PL	0/0/1:35,32:67:9:1092,0,9,1244
+20	10094251	.	T	A	1290	.	AC=2;AF=0.667;AN=3;BaseQRankSum=0.251;DP=67;FS=11.483;MLEAC=2;MLEAF=0.667;MQ=60.00;MQRankSum=0.000;QD=20.81;ReadPosRankSum=1.806;SOR=1.211	GT:AD:DP:GQ:PL	0/1/1:26,36:62:32:1300,32,0,781
+20	10094582	.	A	G	942.02	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-1.388;DP=73;FS=0.000;MLEAC=1;MLEAF=0.333;MQ=59.43;MQRankSum=1.270;QD=13.65;ReadPosRankSum=-0.018;SOR=0.772	GT:AD:DP:GQ:PL	0/0/1:39,30:69:27:948,0,27,1346
+20	10094774	.	C	T	1048.04	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-0.784;DP=81;FS=0.000;MLEAC=1;MLEAF=0.333;MQ=59.43;MQRankSum=0.962;QD=13.97;ReadPosRankSum=0.197;SOR=0.690	GT:AD:DP:GQ:PL	0/0/1:40,35:75:16:1054,0,16,1271
+20	10095432	.	GTGATGATGA	G	862.06	.	AC=1;AF=0.333;AN=3;BaseQRankSum=1.063;DP=79;FS=1.102;MLEAC=1;MLEAF=0.333;MQ=54.53;MQRankSum=-4.431;QD=17.24;ReadPosRankSum=0.396;SOR=0.460	GT:AD:DP:GQ:PL	0/0/1:27,23:50:10:868,0,10,993
+20	10095741	.	A	G	1084.17	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-0.534;DP=72;FS=4.721;MLEAC=1;MLEAF=0.333;MQ=57.39;MQRankSum=-2.313;QD=15.49;ReadPosRankSum=-0.500;SOR=0.515	GT:AD:DP:GQ:PL	0/0/1:36,34:70:7:1090,0,7,1218
+20	10096293	.	C	T	1358.56	.	AC=2;AF=0.667;AN=3;BaseQRankSum=4.664;DP=79;FS=0.000;MLEAC=1;MLEAF=0.333;MQ=58.64;MQRankSum=1.397;QD=18.11;ReadPosRankSum=-1.135;SOR=0.638	GT:AD:DP:GQ:PL	0/1/1:37,38:75:3:1366,3,0,1240
+20	10096596	.	C	T	1568.98	.	AC=2;AF=0.667;AN=3;BaseQRankSum=2.728;DP=91;FS=0.000;MLEAC=2;MLEAF=0.667;MQ=58.82;MQRankSum=0.612;QD=18.03;ReadPosRankSum=-0.170;SOR=0.640	GT:AD:DP:GQ:PL	0/1/1:40,47:87:20:1579,20,0,1261
+20	10096768	.	A	C	1687.98	.	AC=2;AF=0.667;AN=3;BaseQRankSum=-2.764;DP=96;FS=3.983;MLEAC=2;MLEAF=0.667;MQ=59.28;MQRankSum=-1.609;QD=18.55;ReadPosRankSum=0.613;SOR=0.445	GT:AD:DP:GQ:PL	0/1/1:42,49:91:21:1698,21,0,1440
+20	10096899	.	G	T	1617.18	.	AC=2;AF=0.667;AN=3;BaseQRankSum=2.755;DP=84;FS=13.441;MLEAC=2;MLEAF=0.667;MQ=59.28;MQRankSum=-1.677;QD=19.48;ReadPosRankSum=0.422;SOR=1.954	GT:AD:DP:GQ:PL	0/1/1:40,43:83:9:1627,9,0,1503
+20	10096905	.	TA	T	1610.75	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-0.755;DP=86;FS=11.056;MLEAC=1;MLEAF=0.333;MQ=59.30;MQRankSum=-1.739;QD=18.73;ReadPosRankSum=0.461;SOR=1.761	GT:AD:DP:GQ:PL	0/0/1:43,43:86:0:1616,0,0,1601
+20	10096933	.	G	C	1521.04	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-1.914;DP=89;FS=19.713;MLEAC=1;MLEAF=0.333;MQ=59.32;MQRankSum=-1.840;QD=17.09;ReadPosRankSum=0.383;SOR=1.420	GT:AD:DP:GQ:PL	0/0/1:47,42:89:16:1527,0,16,1749
+20	10096958	.	G	A	1769.94	.	AC=2;AF=0.667;AN=3;BaseQRankSum=2.697;DP=93;FS=19.322;MLEAC=2;MLEAF=0.667;MQ=59.35;MQRankSum=-1.664;QD=19.24;ReadPosRankSum=-1.593;SOR=1.431	GT:AD:DP:GQ:PL	0/1/1:44,48:92:12:1780,12,0,1604
+20	10097075	.	T	G	1445.98	.	AC=2;AF=0.667;AN=3;BaseQRankSum=-2.533;DP=96;FS=6.613;MLEAC=2;MLEAF=0.667;MQ=58.14;MQRankSum=-1.389;QD=15.72;ReadPosRankSum=0.235;SOR=0.628	GT:AD:DP:GQ:PL	0/1/1:44,48:92:11:1456,11,0,1464
+20	10097101	.	C	CTTT	1116.97	.	AC=2;AF=0.667;AN=3;BaseQRankSum=-0.954;DP=81;FS=7.014;MLEAC=1;MLEAF=0.333;MQ=58.04;MQRankSum=-1.720;QD=16.67;ReadPosRankSum=3.010;SOR=0.519	GT:AD:DP:GQ:PL	0/1/1:33,34:67:2:1117,2,0,1201
+20	10097436	.	CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C	1097.98	.	AC=1;AF=0.333;AN=3;BaseQRankSum=1.650;DP=90;FS=1.851;MLEAC=1;MLEAF=0.333;MQ=54.34;MQRankSum=-6.464;QD=12.34;ReadPosRankSum=-3.097;SOR=0.948	GT:AD:DP:GQ:PL	0/0/1:57,32:89:75:1104,0,75,2258
+20	10097437	.	TTTTC	*,T	940.61	.	AC=1,2;AF=0.333,0.667;AN=3;DP=78;FS=0.000;MLEAC=1,2;MLEAF=0.333,0.667;MQ=53.68;QD=17.10;SOR=1.877	GT:AD:DP:GQ:PL	1/2/2:0,32,23:55:42:2124,965,945,1801,1234,70,42,1164,0,1123
+20	10097626	.	C	A	649.03	.	AC=1;AF=0.333;AN=3;BaseQRankSum=1.085;DP=54;FS=2.701;MLEAC=1;MLEAF=0.333;MQ=58.00;MQRankSum=-1.331;QD=13.52;ReadPosRankSum=1.015;SOR=0.324	GT:AD:DP:GQ:PL	0/0/1:28,20:48:23:655,0,23,957
+20	10097789	.	T	C	713.02	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-1.157;DP=60;FS=5.374;MLEAC=1;MLEAF=0.333;MQ=58.05;MQRankSum=-2.805;QD=12.51;ReadPosRankSum=0.220;SOR=0.756	GT:AD:DP:GQ:PL	0/0/1:34,23:57:33:719,0,33,1192
+20	10097928	.	G	A	583.98	.	AC=2;AF=0.667;AN=3;BaseQRankSum=-1.203;DP=37;FS=1.315;MLEAC=1;MLEAF=0.333;MQ=58.11;MQRankSum=-1.654;QD=16.22;ReadPosRankSum=-0.079;SOR=0.951	GT:AD:DP:GQ:PL	0/1/1:17,19:36:6:593,6,0,580
+20	10098110	.	G	C	603.21	.	AC=1;AF=0.333;AN=3;BaseQRankSum=2.510;DP=36;FS=6.658;MLEAC=1;MLEAF=0.333;MQ=58.71;MQRankSum=-1.477;QD=16.76;ReadPosRankSum=-0.730;SOR=0.069	GT:AD:DP:GQ:PL	0/0/1:19,17:36:6:609,0,6,721
+20	10098135	.	C	A	500.02	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-1.155;DP=39;FS=4.449;MLEAC=1;MLEAF=0.333;MQ=59.65;MQRankSum=1.563;QD=12.82;ReadPosRankSum=-0.591;SOR=0.070	GT:AD:DP:GQ:PL	0/0/1:25,14:39:33:506,0,33,971
+20	10098219	.	TATATATA	T	327.08	.	AC=1;AF=0.333;AN=3;BaseQRankSum=3.147;DP=21;FS=0.000;MLEAC=1;MLEAF=0.333;MQ=55.94;MQRankSum=-0.205;QD=15.58;ReadPosRankSum=0.427;SOR=0.465	GT:AD:DP:GQ:PL	0/0/1:12,9:21:9:333,0,9,460
+20	10098237	.	A	T	263.79	.	AC=1;AF=0.333;AN=3;BaseQRankSum=0.006;DP=14;FS=0.000;MLEAC=1;MLEAF=0.333;MQ=53.89;MQRankSum=-1.885;QD=18.84;ReadPosRankSum=1.118;SOR=0.693	GT:AD:DP:GQ:PL	0/0/1:7,7:14:0:269,0,0,269
+20	10098265	.	T	C	153.98	.	AC=2;AF=0.667;AN=3;BaseQRankSum=1.834;DP=6;FS=0.000;MLEAC=1;MLEAF=0.333;MQ=41.96;MQRankSum=-1.834;QD=25.66;ReadPosRankSum=0.842;SOR=1.329	GT:AD:DP:GQ:PL	0/1/1:2,4:6:6:163,6,0,60
+20	10098885	.	C	CA	462.08	.	AC=1;AF=0.333;AN=3;BaseQRankSum=0.165;DP=33;FS=0.000;MLEAC=1;MLEAF=0.333;MQ=49.73;MQRankSum=-4.449;QD=14.91;ReadPosRankSum=-0.954;SOR=0.518	GT:AD:DP:GQ:PL	0/0/1:17,14:31:9:468,0,9,569
+20	10098945	.	T	C	426.92	.	AC=2;AF=0.667;AN=3;BaseQRankSum=1.475;DP=22;FS=3.882;MLEAC=2;MLEAF=0.667;MQ=51.15;MQRankSum=-2.504;QD=19.41;ReadPosRankSum=1.038;SOR=2.368	GT:AD:DP:GQ:PL	0/1/1:9,13:22:13:437,13,0,249
+20	10098987	.	C	T	394.98	.	AC=2;AF=0.667;AN=3;BaseQRankSum=3.127;DP=25;FS=7.005;MLEAC=1;MLEAF=0.333;MQ=51.36;MQRankSum=-2.734;QD=16.46;ReadPosRankSum=0.436;SOR=2.925	GT:AD:DP:GQ:PL	0/1/1:11,13:24:6:404,6,0,347
+20	10099029	.	T	C	363.02	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-1.809;DP=30;FS=1.987;MLEAC=1;MLEAF=0.333;MQ=52.93;MQRankSum=-3.731;QD=12.52;ReadPosRankSum=-1.224;SOR=1.609	GT:AD:DP:GQ:PL	0/0/1:19,10:29:27:369,0,27,774
+20	10099034	.	C	A	363.02	.	AC=1;AF=0.333;AN=3;BaseQRankSum=2.757;DP=29;FS=1.987;MLEAC=1;MLEAF=0.333;MQ=53.57;MQRankSum=-3.731;QD=12.52;ReadPosRankSum=-1.850;SOR=1.609	GT:AD:DP:GQ:PL	0/0/1:19,10:29:27:369,0,27,774
+20	10099044	.	A	C	363.02	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-1.148;DP=29;FS=0.000;MLEAC=1;MLEAF=0.333;MQ=51.81;MQRankSum=-4.533;QD=12.52;ReadPosRankSum=-2.207;SOR=0.892	GT:AD:DP:GQ:PL	0/0/1:19,10:29:27:369,0,27,774
+20	10099046	.	T	C	330.03	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-2.165;DP=24;FS=0.000;MLEAC=1;MLEAF=0.333;MQ=49.94;MQRankSum=-4.418;QD=13.75;ReadPosRankSum=-2.297;SOR=0.515	GT:AD:DP:GQ:PL	0/0/1:15,9:24:18:336,0,18,606
+20	10099055	.	T	C	286.02	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-1.554;DP=25;FS=0.000;MLEAC=1;MLEAF=0.333;MQ=50.20;MQRankSum=-4.179;QD=11.44;ReadPosRankSum=-1.970;SOR=0.770	GT:AD:DP:GQ:PL	0/0/1:17,8:25:27:292,0,27,680
+20	10099079	.	C	T	159.02	.	AC=1;AF=0.333;AN=3;BaseQRankSum=1.434;DP=30;FS=1.826;MLEAC=1;MLEAF=0.333;MQ=51.49;MQRankSum=-2.614;QD=5.30;ReadPosRankSum=0.969;SOR=1.329	GT:AD:DP:GQ:PL	0/0/1:24,6:30:54:165,0,54,906
+20	10099111	.	T	TTTTGTTTG	683.03	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-1.207;DP=52;FS=1.206;MLEAC=1;MLEAF=0.333;MQ=53.85;MQRankSum=-0.973;QD=16.26;ReadPosRankSum=-1.860;SOR=0.967	GT:AD:DP:GQ:PL	0/0/1:23,19:42:12:689,0,12,798
+20	10099140	.	G	T	1012.36	.	AC=2;AF=0.667;AN=3;BaseQRankSum=-0.114;DP=64;FS=2.241;MLEAC=1;MLEAF=0.333;MQ=55.86;MQRankSum=-2.469;QD=16.33;ReadPosRankSum=0.846;SOR=1.114	GT:AD:DP:GQ:PL	0/1/1:30,32:62:8:1022,8,0,920
+20	10099190	.	G	T	1042.41	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-0.034;DP=65;FS=0.000;MLEAC=1;MLEAF=0.333;MQ=57.56;MQRankSum=-1.711;QD=16.04;ReadPosRankSum=-1.260;SOR=0.776	GT:AD:DP:GQ:PL	0/0/1:33,32:65:3:1048,0,3,1139
+20	10099220	.	A	G	596.04	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-1.664;DP=47;FS=1.137;MLEAC=1;MLEAF=0.333;MQ=57.74;MQRankSum=-2.596;QD=13.25;ReadPosRankSum=0.629;SOR=0.519	GT:AD:DP:GQ:PL	0/0/1:25,20:45:16:602,0,16,870
+20	10099250	.	G	A	716.96	.	AC=2;AF=0.667;AN=3;BaseQRankSum=3.170;DP=39;FS=7.195;MLEAC=2;MLEAF=0.667;MQ=56.89;MQRankSum=-2.272;QD=19.38;ReadPosRankSum=0.583;SOR=0.162	GT:AD:DP:GQ:PL	0/1/1:16,21:37:16:727,16,0,422
+20	10099535	.	G	A	1357.01	.	AC=2;AF=0.667;AN=3;BaseQRankSum=5.034;DP=68;FS=2.172;MLEAC=2;MLEAF=0.667;MQ=59.04;MQRankSum=-1.418;QD=20.88;ReadPosRankSum=-0.777;SOR=0.408	GT:AD:DP:GQ:PL	0/1/1:26,39:65:39:1367,39,0,689
+20	10099565	.	C	T	1356.98	.	AC=2;AF=0.667;AN=3;BaseQRankSum=4.595;DP=70;FS=8.736;MLEAC=2;MLEAF=0.667;MQ=59.40;MQRankSum=-1.266;QD=19.67;ReadPosRankSum=1.225;SOR=0.191	GT:AD:DP:GQ:PL	0/1/1:31,38:69:21:1367,21,0,986
+20	10099755	.	C	T	1105.41	.	AC=1;AF=0.333;AN=3;BaseQRankSum=1.550;DP=66;FS=2.074;MLEAC=1;MLEAF=0.333;MQ=59.37;MQRankSum=-0.022;QD=17.01;ReadPosRankSum=-0.230;SOR=0.446	GT:AD:DP:GQ:PL	0/0/1:33,32:65:3:1111,0,3,1133
+20	10099832	.	A	G	1087.03	.	AC=1;AF=0.333;AN=3;BaseQRankSum=-4.563;DP=75;FS=4.632;MLEAC=1;MLEAF=0.333;MQ=59.00;MQRankSum=0.869;QD=15.10;ReadPosRankSum=-1.023;SOR=0.871	GT:AD:DP:GQ:PL	0/0/1:39,33:72:18:1093,0,18,1421
diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/haplotypecaller/testMismatchPloidyRegions.bed b/src/test/resources/org/broadinstitute/hellbender/tools/haplotypecaller/testMismatchPloidyRegions.bed
new file mode 100644
index 00000000000..9cec9490ffe
--- /dev/null
+++ b/src/test/resources/org/broadinstitute/hellbender/tools/haplotypecaller/testMismatchPloidyRegions.bed
@@ -0,0 +1,3 @@
+chr20	10000000	10010000	2
+20	10020000	10030000	4
+20	10060000	10080000	1
diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/haplotypecaller/testNegativePloidyRegions.bed b/src/test/resources/org/broadinstitute/hellbender/tools/haplotypecaller/testNegativePloidyRegions.bed
new file mode 100644
index 00000000000..0020760881a
--- /dev/null
+++ b/src/test/resources/org/broadinstitute/hellbender/tools/haplotypecaller/testNegativePloidyRegions.bed
@@ -0,0 +1,3 @@
+20	10000000	10010000	-2
+20	10020000	10030000	4
+20	10060000	10080000	1
diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/haplotypecaller/testNonIntegerPloidyRegions.bed b/src/test/resources/org/broadinstitute/hellbender/tools/haplotypecaller/testNonIntegerPloidyRegions.bed
new file mode 100644
index 00000000000..c294c72b668
--- /dev/null
+++ b/src/test/resources/org/broadinstitute/hellbender/tools/haplotypecaller/testNonIntegerPloidyRegions.bed
@@ -0,0 +1,3 @@
+20	10000000	10010000	hi
+20	10020000	10030000	.
+20	10060000	10080000	1
diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/haplotypecaller/testPloidyRegions.bed b/src/test/resources/org/broadinstitute/hellbender/tools/haplotypecaller/testPloidyRegions.bed
new file mode 100644
index 00000000000..2e652e2566b
--- /dev/null
+++ b/src/test/resources/org/broadinstitute/hellbender/tools/haplotypecaller/testPloidyRegions.bed
@@ -0,0 +1,4 @@
+20	10000000	10010000	2
+20	10020000	10030000	4
+20  10022000    10026000    2
+20	10060000	10080000	1

From 85d13d45841ac04092fda1ea3895c46223515c8b Mon Sep 17 00:00:00 2001
From: droazen 
Date: Mon, 11 Dec 2023 21:44:14 -0500
Subject: [PATCH 18/64] Update the GATK base image to a newer LTS ubuntu
 release (#8610)

* Update the GATK base image to the latest Ubuntu LTS release (22.04)

* Add some additional useful utilities to the base image

* Switch to a newer conda version with a much faster solver

* Update the scripts and documentation for building the base image

* Update the VETS integration tests to allow for a small epsilon during numeric comparisons, and include the full diff output in exception messages when a mismatch is detected
---
 Dockerfile                                    |  4 +-
 scripts/docker/README.md                      | 19 +++--
 scripts/docker/gatkbase/Dockerfile            | 44 +++++-----
 scripts/docker/gatkbase/README.md             | 23 +++---
 scripts/docker/gatkbase/build_docker_base.sh  | 53 ------------
 .../gatkbase/build_docker_base_cloud.sh       | 31 +++++++
 .../gatkbase/build_docker_base_locally.sh     | 33 ++++++++
 .../gatkbase/release_prebuilt_base_image.sh   | 60 ++++++++++++++
 scripts/gatkcondaenv.yml.template             |  2 +-
 ...ractVariantAnnotationsIntegrationTest.java | 21 ++---
 ...coreVariantAnnotationsIntegrationTest.java | 18 +++--
 .../vqsr/scalable/SystemCommandUtilsTest.java | 80 ++++++++++++-------
 ...ariantAnnotationsModelIntegrationTest.java | 25 +++---
 .../hellbender/testutils/BaseTest.java        | 38 ++++++++-
 14 files changed, 298 insertions(+), 153 deletions(-)
 delete mode 100755 scripts/docker/gatkbase/build_docker_base.sh
 create mode 100755 scripts/docker/gatkbase/build_docker_base_cloud.sh
 create mode 100755 scripts/docker/gatkbase/build_docker_base_locally.sh
 create mode 100755 scripts/docker/gatkbase/release_prebuilt_base_image.sh

diff --git a/Dockerfile b/Dockerfile
index a513863128d..22f319086ad 100644
--- a/Dockerfile
+++ b/Dockerfile
@@ -1,4 +1,4 @@
-ARG BASE_DOCKER=broadinstitute/gatk:gatkbase-3.1.0
+ARG BASE_DOCKER=broadinstitute/gatk:gatkbase-3.2.0
 
 # stage 1 for constructing the GATK zip
 FROM ${BASE_DOCKER} AS gradleBuild
@@ -93,8 +93,6 @@ RUN conda env create -n gatk -f /gatk/gatkcondaenv.yml && \
     echo "source activate gatk" >> /gatk/gatkenv.rc && \
     echo "source /gatk/gatk-completion.sh" >> /gatk/gatkenv.rc && \
     conda clean -afy && \
-    find /opt/miniconda/ -follow -type f -name '*.a' -delete && \
-    find /opt/miniconda/ -follow -type f -name '*.pyc' -delete && \
     rm -rf /root/.cache/pip
 
 CMD ["bash", "--init-file", "/gatk/gatkenv.rc"]
diff --git a/scripts/docker/README.md b/scripts/docker/README.md
index 01e4bdb0f65..c61b71424f0 100644
--- a/scripts/docker/README.md
+++ b/scripts/docker/README.md
@@ -21,7 +21,7 @@ This repo contains the scripts for creating and pushing two docker images:
 - gatkbase -- a basic docker image that we do not expect to change very often.  The GATK4 docker image uses this one (``FROM``)
 - gatk4 -- the official docker image for GATK4.  The instructions in this document pertain to this image, unless otherwise stated.
 
-``scripts/docker/gatkbase/build_docker_base.sh`` is a script to create the gatkbase docker image. 
+``scripts/docker/gatkbase/build_docker_base_cloud.sh`` and ``scripts/docker/gatkbase/build_docker_base_locally.sh`` are scripts to create the gatkbase docker image. 
 ``build_docker.sh`` is a script to create the full gatk4 docker image.
 ``build_docker_remote.sh`` is a script to create the full gatk4 docker image using google cloud build remotely. This is useful if you can't build the docker image locally (for example if you have an M1 Macbook) NOTE: this requires the user first specify their project with the command `gcloud config set project ` to a project that has access to google cloud build. 
 
@@ -148,19 +148,24 @@ exit
 This is a base image that does not require any files in the gatk repo (except the build script and Dockerfile, obviously).  GATK docker images are dependent on this one.
 
 **IMPORTANT** 
-- The gatkbase build script should be run from the ``scripts/docker/gatkbase`` directory.
-- If you want to create a new version, you must modify the ``build_docker_base.sh`` script directly.  Any changes should be committed to the repo.
+- The gatkbase build scripts should be run from the ``scripts/docker/gatkbase`` directory.
 
-#### Create gatkbase docker image and push it to docker hub
+#### Build the gatkbase docker image on your local machine:
 
 ```bash
-build_docker_base.sh -p
+build_docker_base_locally.sh 
 ```
 
-#### Create gatkbase docker image and do not push it to docker hub
+#### Build the gatkbase docker image remotely using Google Cloud Build:
+
+```bash
+build_docker_base_cloud.sh 
+```
+
+#### Release a pre-built gatkbase image to the official repositories, after testing it:
  
 ```bash
-build_docker_base.sh -p
+release_prebuilt_base_image.sh  
 ```
 
 
diff --git a/scripts/docker/gatkbase/Dockerfile b/scripts/docker/gatkbase/Dockerfile
index 7f4d8cb6a7b..7b758d19829 100644
--- a/scripts/docker/gatkbase/Dockerfile
+++ b/scripts/docker/gatkbase/Dockerfile
@@ -1,12 +1,16 @@
 # Using OpenJDK 17
 # This Dockerfile does not require any files that are in the GATK4 repo.
-FROM ubuntu:18.04
+FROM ubuntu:22.04
+
+# Avoid interactive prompts during apt installs/upgrades
+ENV DEBIAN_FRONTEND noninteractive
 
 #### Basic image utilities
-RUN apt-get update && \
-    apt-get upgrade -y && \
-    apt-get install -y --no-install-recommends \
+RUN apt update && \
+    apt full-upgrade -y && \
+    apt install -y --no-install-recommends \
     python3 \
+    python3-pip \
     wget \
     curl \
     bc \
@@ -15,14 +19,18 @@ RUN apt-get update && \
     less \
     bedtools \
     samtools \
+    bcftools \
     tabix \
+    jq \
+    git \
     gpg-agent \
     build-essential \
     openjdk-17-jdk \
+    vim \
     software-properties-common && \
-    apt-get -y clean  && \
-    apt-get -y autoclean  && \
-    apt-get -y autoremove && \
+    apt -y clean  && \
+    apt -y autoclean  && \
+    apt -y autoremove && \
     rm -rf /var/lib/apt/lists/*
 
 RUN java -version
@@ -31,11 +39,11 @@ RUN java -version
 RUN echo "deb [signed-by=/usr/share/keyrings/cloud.google.gpg] http://packages.cloud.google.com/apt cloud-sdk main" \
     | tee -a /etc/apt/sources.list.d/google-cloud-sdk.list && curl https://packages.cloud.google.com/apt/doc/apt-key.gpg \
     | apt-key --keyring /usr/share/keyrings/cloud.google.gpg  add - && \
-    apt-get update -y && \
-    apt-get install -y --no-install-recommends google-cloud-cli && \
-    apt-get -y clean  && \
-    apt-get -y autoclean  && \
-    apt-get -y autoremove && \
+    apt update -y && \
+    apt install -y --no-install-recommends google-cloud-cli && \
+    apt -y clean  && \
+    apt -y autoclean  && \
+    apt -y autoremove && \
     rm -rf /var/lib/apt/lists/* && \
 #  Remove the anthos cli tool and related files since they are very large and we / anyone using the docker are unlikely to use them
 #  Remove the bundled python because we have python installed separately
@@ -55,16 +63,16 @@ ENV JAVA_LIBRARY_PATH /usr/lib/jni
 
 # Install miniconda
 ENV DOWNLOAD_DIR /downloads
-ENV CONDA_URL https://repo.anaconda.com/miniconda/Miniconda3-py310_23.1.0-1-Linux-x86_64.sh 
-ENV CONDA_MD5 = "32d73e1bc33fda089d7cd9ef4c1be542616bd8e437d1f77afeeaf7afdb019787"
+ENV CONDA_URL https://repo.anaconda.com/miniconda/Miniconda3-py310_23.10.0-1-Linux-x86_64.sh
+ENV CONDA_SHA256 "c7a34df472feb69805b64df6e8db58363c5ccab41cd3b40b07e3e6dfb924359a"
 ENV CONDA_PATH /opt/miniconda
 ENV PATH $CONDA_PATH/bin:$PATH
 RUN mkdir $DOWNLOAD_DIR && \
     wget -nv -O $DOWNLOAD_DIR/miniconda.sh $CONDA_URL && \
-    test "`md5sum $DOWNLOAD_DIR/miniconda.sh | awk -v FS='  ' '{print $1}'` = $CONDA_MD5" && \
+    test "$(sha256sum $DOWNLOAD_DIR/miniconda.sh | awk -v FS=' ' -v ORS='' '{print $1}')" = "$CONDA_SHA256" && \
     bash $DOWNLOAD_DIR/miniconda.sh -p $CONDA_PATH -b && \
     rm $DOWNLOAD_DIR/miniconda.sh && \
     conda clean -afy && \
-    find /opt/miniconda/ -follow -type f -name '*.a' -delete && \
-    find /opt/miniconda/ -follow -type f -name '*.pyc' -delete && \
-    rm -rf /root/.cache/pip 
+    conda config --set auto_update_conda false && \
+    conda config --set solver libmamba && \
+    rm -rf /root/.cache/pip
diff --git a/scripts/docker/gatkbase/README.md b/scripts/docker/gatkbase/README.md
index f020175ae78..9d8b2e81a8f 100644
--- a/scripts/docker/gatkbase/README.md
+++ b/scripts/docker/gatkbase/README.md
@@ -1,16 +1,15 @@
 # How to update the GATK base docker image:
 
-1. choose a new version number for the base image and manually update the version in `scripts/docker/gatkbase/build_docker_base.sh`
-2. build the gatkbase image using that script and upload it to the [gatk-dev docker repo](https://hub.docker.com/r/broadinstitute/gatk-dev/) or [gcr-gatk-snapshots](us.gcr.io/broad-dsde-methods/broad-gatk-snapshots)
-   * cd to scripts/docker/gatkbase
-   * run `./build_docker_base.sh`
-   * `docker tag broadinstitute/gatk-dev:your-version-rc1` or whatever the correct tag is for where you want it uploaded
-   * `docker push tagname`
-3. update the Dockerfile in the main gatk to use the image you pushed
-4. commit the changes to the two docker files and to a new pull request
-5. wait for the tests to pass and show it to a reviewer
-6. push the base image to the official [gatk repo](https://hub.docker.com/r/broadinstitute/gatk) with the right name
-7. update the main docker to point to the official version you just released
-8. wait for tests to pass in travis and merge
+1. In a branch, make whatever updates you need to the base image Dockerfile in `scripts/docker/gatkbase`
+2. Choose a new version number for the new base image
+3. Build the GATK base image by running either `build_docker_base_cloud.sh` (to build in the cloud using Google Cloud Build) or `build_docker_base_locally.sh` (to build on your local machine) from within the `scripts/docker/gatkbase` directory in your GATK clone.
+   * Both scripts take the version of the new image as their only argument. Eg., `build_docker_base_cloud.sh 3.0.0rc1` will create the remote image `us.gcr.io/broad-dsde-methods/gatk-base-image-staging-area:gatkbase-3.0.0rc1`
+4. If you built the image locally, you'll need to manually push it to the staging area at `us.gcr.io/broad-dsde-methods/gatk-base-image-staging-area`
+5. Test the new image using the GATK branch with your changes to the base image Dockerfile, by modifying the FROM clause at the top of the main GATK Dockerfile to point to the base image you staged, and submit a PR for the branch to let the test suite run.
+6. Once tests pass and everything looks good, push the new base image to the release repositories using the `release_prebuilt_base_image.sh` script
+   * The release script takes as arguments the prebuilt image you've tested, and a final version number for release. For example: `release_prebuilt_base_image.sh us.gcr.io/broad-dsde-methods/gatk-base-image-staging-area:gatkbase-3.0.0rc1 3.0.0`
+   * The release script looks for the image locally first, and if not found locally it pulls it from the remote repository before releasing.
+7. Update the FROM clause in the main GATK Dockerfile in your GATK PR to point to the officially-released image, and merge it once tests pass.
+
 
 
diff --git a/scripts/docker/gatkbase/build_docker_base.sh b/scripts/docker/gatkbase/build_docker_base.sh
deleted file mode 100755
index ca6440c6880..00000000000
--- a/scripts/docker/gatkbase/build_docker_base.sh
+++ /dev/null
@@ -1,53 +0,0 @@
-#!/usr/bin/env bash
-
-# Have script stop if there is an error
-set -e
-
-
-REPO=broadinstitute
-PROJECT=gatk
-VERSION=2.3.0
-FULL_PATH=${REPO}/${PROJECT}:gatkbase-${VERSION}
-
-#################################################
-# Parsing arguments
-#################################################
-while getopts "ph" option; do
-	case "$option" in
-	    h) IS_HELP=true ;;
-		p) IS_PUSH=true ;;
-	esac
-done
-
-if [ -n "$IS_HELP" ]; then
-	printf "Build the GATK4 base image.\n \
-Usage: %s: [-p] [-h] \n \
-Optional arguments:  \n \
--p \t push image to docker hub once complete. \n \n" $0
-	exit 1
-fi
-
-# Output the parameters
-echo -e "\n"
-echo -e "docker hub repo, project, and tag: ${FULL_PATH}\n\n"
-echo "Other options (Blank is false)"
-echo "---------------"
-echo "Push to dockerhub: ${IS_PUSH}"
-
-# Login to dockerhub
-if [ -n "${IS_PUSH}" ]; then
-	echo "Please login to dockerhub"
-	docker login
-fi
-
-# Build
-echo "Building image to tag ${FULL_PATH}..."
-docker build --squash -t ${FULL_PATH} .
-
-## Push
-if [ -n "${IS_PUSH}" ]; then
-	docker push ${FULL_PATH}
-else
-	echo "Not pushing to dockerhub"
-fi
-
diff --git a/scripts/docker/gatkbase/build_docker_base_cloud.sh b/scripts/docker/gatkbase/build_docker_base_cloud.sh
new file mode 100755
index 00000000000..897b4b2a753
--- /dev/null
+++ b/scripts/docker/gatkbase/build_docker_base_cloud.sh
@@ -0,0 +1,31 @@
+#!/bin/bash
+#
+# A script that builds the GATK base image using Google Cloud Build, and pushes it to
+# a staging location at us.gcr.io/broad-dsde-methods/gatk-base-image-staging-area
+#
+# Usage: build_docker_base_cloud.sh 
+#
+# After staging the image, you should test it with GATK before actually releasing it
+# using the release_prebuilt_base_image.sh script. You can test it by modifying the
+# main GATK Dockerfile FROM clause to point temporarily at the staged base image, and
+# submitting that as a PR to trigger a test suite run.
+#
+
+if [ $# -ne 1 ]; then
+    echo "Usage: $0 "
+    exit 1
+fi
+
+IMAGE_VERSION=$1
+IMAGE_NAME="us.gcr.io/broad-dsde-methods/gatk-base-image-staging-area"
+DOCKER_IMAGE_TAG="${IMAGE_NAME}:gatkbase-${IMAGE_VERSION}"
+
+gcloud builds submit --tag ${DOCKER_IMAGE_TAG} --timeout=24h --machine-type n1_highcpu_32
+
+if [ $? -ne 0 ]; then
+    echo "gcloud builds submit failed"
+    exit 1
+fi
+
+echo "Successfully published image to staging area at ${DOCKER_IMAGE_TAG}"
+exit 0
\ No newline at end of file
diff --git a/scripts/docker/gatkbase/build_docker_base_locally.sh b/scripts/docker/gatkbase/build_docker_base_locally.sh
new file mode 100755
index 00000000000..bc6acce2011
--- /dev/null
+++ b/scripts/docker/gatkbase/build_docker_base_locally.sh
@@ -0,0 +1,33 @@
+#!/bin/bash
+#
+# A script that builds the GATK base image locally (but does not push it anywhere).
+#
+# Usage: build_docker_base_locally.sh 
+#
+# After building the image, you should test it with GATK before actually releasing it
+# using the release_prebuilt_base_image.sh script. You can test it by modifying the
+# main GATK Dockerfile FROM clause to point temporarily at the candidate base image, and
+# submitting that as a PR to trigger a test suite run.
+#
+
+if [ $# -ne 1 ]; then
+    echo "Usage: $0 "
+    exit 1
+fi
+
+IMAGE_VERSION=$1
+IMAGE_REPO="us.gcr.io/broad-dsde-methods/gatk-base-image-staging-area"
+IMAGE_FULL_TAG="${IMAGE_REPO}:gatkbase-${IMAGE_VERSION}"
+
+# Build
+echo "Building image to tag ${IMAGE_FULL_TAG}..."
+docker build --squash -t "${IMAGE_FULL_TAG}" .
+
+if [ $? -ne 0 ]; then
+  echo "docker build failed"
+  exit 1
+fi
+
+echo "docker build succeeded"
+exit 0
+
diff --git a/scripts/docker/gatkbase/release_prebuilt_base_image.sh b/scripts/docker/gatkbase/release_prebuilt_base_image.sh
new file mode 100755
index 00000000000..1647be93810
--- /dev/null
+++ b/scripts/docker/gatkbase/release_prebuilt_base_image.sh
@@ -0,0 +1,60 @@
+#!/bin/bash
+#
+# A script that takes a prebuilt GATK base image, and pushes it to the GATK release repositories on
+# dockerhub and GCR. Use the build_docker_base_cloud.sh or build_docker_base_locally.sh scripts to
+# build the image before running this script.
+#
+# Usage: release_prebuilt_base_image.sh  
+#
+# If the prebuilt image exists locally, this script will push the local version. Otherwise,
+# it will pull the image from the remote repository before pushing it to the GATK release
+# repositories.
+#
+# prebuilt_image: The pre-built image you want to release (make sure you've tested it!)
+#                 May be either local or remote
+# version_tag_for_release: The version of the GATK base image you're releasing (eg., 3.1.0)
+#
+
+if [ $# -ne 2 ]; then
+  echo "Usage: $0  "
+  exit 1
+fi
+
+PREBUILT_IMAGE="$1"
+VERSION="$2"
+DOCKERHUB_REPO="broadinstitute/gatk"
+GCR_REPO="us.gcr.io/broad-gatk/gatk"
+BASE_IMAGE_FULL_TAG="gatkbase-${VERSION}"
+
+function fatal_error() {
+  echo "$1" 1>&2
+  exit 1
+}
+
+function docker_push() {
+  echo "Pushing to ${1}"
+  docker push "${1}"
+  if [ $? -ne 0 ]; then
+    fatal_error "Failed to push to ${1}"
+  fi
+}
+
+# Test if the prebuilt image exists locally, and pull it if it doesn't
+docker image inspect "${PREBUILT_IMAGE}" > /dev/null 2>&1
+if [ $? -ne 0 ]; then
+  echo "Image ${PREBUILT_IMAGE} not found locally: attempting to pull it now"
+  docker pull "${PREBUILT_IMAGE}"
+  if [ $? -ne 0 ]; then
+    fatal_error "Failed to pull pre-built image ${PREBUILT_IMAGE}"
+  fi
+else
+  echo "Image ${PREBUILT_IMAGE} found locally: pushing it to the release repositories"
+fi
+
+docker tag "${PREBUILT_IMAGE}" "${DOCKERHUB_REPO}:${BASE_IMAGE_FULL_TAG}"
+docker tag "${PREBUILT_IMAGE}" "${GCR_REPO}:${BASE_IMAGE_FULL_TAG}"
+
+docker_push "${DOCKERHUB_REPO}:${BASE_IMAGE_FULL_TAG}"
+docker_push "${GCR_REPO}:${BASE_IMAGE_FULL_TAG}"
+
+exit 0
\ No newline at end of file
diff --git a/scripts/gatkcondaenv.yml.template b/scripts/gatkcondaenv.yml.template
index fa115de3325..a87b2acdda3 100644
--- a/scripts/gatkcondaenv.yml.template
+++ b/scripts/gatkcondaenv.yml.template
@@ -20,7 +20,7 @@ dependencies:
 
 # core python dependencies
 - conda-forge::python=3.6.10        # do not update
-- pip=20.0.2                        # specifying channel may cause a warning to be emitted by conda
+- conda-forge::pip=21.3.1
 - conda-forge::mkl=2019.5           # MKL typically provides dramatic performance increases for theano, tensorflow, and other key dependencies
 - conda-forge::mkl-service=2.3.0
 - conda-forge::joblib=1.1.1         # must pin joblib - versions after 1.1.1 no longer support python 3.6
diff --git a/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/ExtractVariantAnnotationsIntegrationTest.java b/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/ExtractVariantAnnotationsIntegrationTest.java
index e3379e91928..7d2e27d27bb 100644
--- a/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/ExtractVariantAnnotationsIntegrationTest.java
+++ b/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/ExtractVariantAnnotationsIntegrationTest.java
@@ -158,17 +158,18 @@ public void testValidInputs(final String tag,
     private static void assertOutputs(final String tag,
                                       final String outputPrefix) {
         // vcf.idx files are not reproducible
-        SystemCommandUtilsTest.runSystemCommand(String.format("h5diff %s/%s %s",
-                EXPECTED_TEST_FILES_DIR,
-                tag + LabeledVariantAnnotationsWalker.ANNOTATIONS_HDF5_SUFFIX,
-                outputPrefix + LabeledVariantAnnotationsWalker.ANNOTATIONS_HDF5_SUFFIX));
-        SystemCommandUtilsTest.runSystemCommand(String.format("diff %s/%s.vcf %s.vcf",
-                EXPECTED_TEST_FILES_DIR, tag, outputPrefix));
+        SystemCommandUtilsTest.runH5Diff(
+                String.format("%s/%s", EXPECTED_TEST_FILES_DIR, tag + LabeledVariantAnnotationsWalker.ANNOTATIONS_HDF5_SUFFIX),
+                String.format("%s", outputPrefix + LabeledVariantAnnotationsWalker.ANNOTATIONS_HDF5_SUFFIX));
+
+        SystemCommandUtilsTest.runDiff(
+                String.format("%s/%s.vcf", EXPECTED_TEST_FILES_DIR, tag),
+                String.format("%s.vcf", outputPrefix));
+
         if (tag.contains("posUn")) {
-            SystemCommandUtilsTest.runSystemCommand(String.format("h5diff %s/%s %s",
-                    EXPECTED_TEST_FILES_DIR,
-                    tag + ExtractVariantAnnotations.UNLABELED_TAG + ExtractVariantAnnotations.ANNOTATIONS_HDF5_SUFFIX,
-                    outputPrefix + ExtractVariantAnnotations.UNLABELED_TAG + ExtractVariantAnnotations.ANNOTATIONS_HDF5_SUFFIX));
+            SystemCommandUtilsTest.runH5Diff(
+                    String.format("%s/%s", EXPECTED_TEST_FILES_DIR, tag + ExtractVariantAnnotations.UNLABELED_TAG + ExtractVariantAnnotations.ANNOTATIONS_HDF5_SUFFIX),
+                    String.format("%s", outputPrefix + ExtractVariantAnnotations.UNLABELED_TAG + ExtractVariantAnnotations.ANNOTATIONS_HDF5_SUFFIX));
         } else {
             Assert.assertFalse(new File(outputPrefix + ExtractVariantAnnotations.UNLABELED_TAG + ExtractVariantAnnotations.ANNOTATIONS_HDF5_SUFFIX).exists());
         }
diff --git a/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/ScoreVariantAnnotationsIntegrationTest.java b/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/ScoreVariantAnnotationsIntegrationTest.java
index 1ff89982a9b..ffb8f9158ae 100644
--- a/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/ScoreVariantAnnotationsIntegrationTest.java
+++ b/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/ScoreVariantAnnotationsIntegrationTest.java
@@ -12,6 +12,7 @@
 import org.broadinstitute.hellbender.utils.io.IOUtils;
 import org.broadinstitute.hellbender.utils.io.Resource;
 import org.broadinstitute.hellbender.utils.python.PythonScriptExecutorException;
+import org.broadinstitute.hellbender.utils.runtime.ProcessController;
 import org.testng.Assert;
 import org.testng.annotations.DataProvider;
 import org.testng.annotations.Test;
@@ -163,12 +164,17 @@ public void testValidInputs(final String tag,
     private static void assertExpectedOutputs(final String tag,
                                               final String outputPrefix) {
         // vcf.idx files are not reproducible
-        SystemCommandUtilsTest.runSystemCommand(String.format("diff %s/%s.vcf %s.vcf",
-                EXPECTED_TEST_FILES_DIR, tag, outputPrefix));
-        SystemCommandUtilsTest.runSystemCommand(String.format("h5diff %s/%s.annot.hdf5 %s.annot.hdf5",
-                EXPECTED_TEST_FILES_DIR, tag, outputPrefix));
-        SystemCommandUtilsTest.runSystemCommand(String.format("h5diff %s/%s.scores.hdf5 %s.scores.hdf5",
-                EXPECTED_TEST_FILES_DIR, tag, outputPrefix));
+        SystemCommandUtilsTest.runDiff(
+                String.format("%s/%s.vcf", EXPECTED_TEST_FILES_DIR, tag),
+                String.format("%s.vcf", outputPrefix));
+
+        SystemCommandUtilsTest.runH5Diff(
+                String.format("%s/%s.annot.hdf5", EXPECTED_TEST_FILES_DIR, tag),
+                String.format("%s.annot.hdf5", outputPrefix));
+
+        SystemCommandUtilsTest.runH5Diff(
+                String.format("%s/%s.scores.hdf5", EXPECTED_TEST_FILES_DIR, tag),
+                String.format("%s.scores.hdf5", outputPrefix));
     }
 
     /**
diff --git a/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/SystemCommandUtilsTest.java b/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/SystemCommandUtilsTest.java
index 705f292116a..f9a82a8f975 100644
--- a/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/SystemCommandUtilsTest.java
+++ b/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/SystemCommandUtilsTest.java
@@ -2,6 +2,7 @@
 
 import org.broadinstitute.hellbender.GATKBaseTest;
 import org.broadinstitute.hellbender.exceptions.GATKException;
+import org.broadinstitute.hellbender.utils.runtime.ProcessController;
 import org.testng.Assert;
 import org.testng.annotations.Test;
 
@@ -16,47 +17,66 @@ public final class SystemCommandUtilsTest extends GATKBaseTest {
             "org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/extract");
     private static final File EXPECTED_TEST_FILES_DIR = new File(TEST_FILES_DIR, "expected");
 
-    static void runSystemCommand(final String command) {
-        logger.debug(String.format("Testing command: %s", command));
-        try {
-            final ProcessBuilder processBuilder = new ProcessBuilder("sh", "-c", command).redirectErrorStream(true);
-            final Process process = processBuilder.start();
-
-            final BufferedReader stdInReader = new BufferedReader(new InputStreamReader(process.getInputStream()));
-            String stdInLine;
-            while ((stdInLine = stdInReader.readLine()) != null) {
-                Assert.fail(String.format("The command \"%s\" resulted in: %s", command, stdInLine));
-            }
-            stdInReader.close();
-
-        } catch (final IOException e) {
-            throw new GATKException.ShouldNeverReachHereException(e.getMessage());
-        }
+    /**
+     * Run the h5diff utility to compare the specified files. If h5diff exits with a non-zero
+     * status code (indicating that there were differences), the differences will get printed
+     * in the exception message and show up in the TestNG logs on github.
+     *
+     * @param expected HDF5 file with the expected results
+     * @param actual HDF5 file with the actual results
+     */
+    static void runH5Diff(final String expected, final String actual) {
+        final ProcessController controller = ProcessController.getThreadLocal();
+
+        // -r: Report mode. Print the differences.
+        // --use-system-epsilon: Return a difference if and only if the difference between two data values exceeds
+        //                       the system value for epsilon.
+        final String[] command = new String[] { "h5diff", "-r", "--use-system-epsilon", expected, actual };
+
+        runProcessAndCaptureOutputInExceptionMessage(controller, command);
+    }
+
+    /**
+     * Run the standard diff utility to compare the specified files. If diff exits with a non-zero
+     * status code (indicating that there were differences), the differences will get printed
+     * in the exception message and show up in the TestNG logs on github.
+     *
+     * @param expected file with the expected results
+     * @param actual file with the actual results
+     */
+    static void runDiff(final String expected, final String actual) {
+        final ProcessController controller = ProcessController.getThreadLocal();
+        final String[] command = new String[] { "diff", expected, actual };
+        runProcessAndCaptureOutputInExceptionMessage(controller, command);
     }
 
     @Test(groups = {"python"}) // python environment is required to use h5diff
-    public void testRunSystemCommand() {
-        runSystemCommand(String.format("h5diff %s/extract.AS.indel.pos.annot.hdf5 %s/extract.AS.indel.pos.annot.hdf5",
-                EXPECTED_TEST_FILES_DIR, EXPECTED_TEST_FILES_DIR));
-        runSystemCommand(String.format("diff %s/extract.AS.indel.pos.vcf %s/extract.AS.indel.pos.vcf",
-                EXPECTED_TEST_FILES_DIR, EXPECTED_TEST_FILES_DIR));
+    public void testRunH5DiffIdenticalFile() {
+        runH5Diff(String.format("%s/extract.AS.indel.pos.annot.hdf5", EXPECTED_TEST_FILES_DIR),
+                  String.format("%s/extract.AS.indel.pos.annot.hdf5", EXPECTED_TEST_FILES_DIR));
+    }
+
+    @Test
+    public void testRunDiffIdenticalFile() {
+        runDiff(String.format("%s/extract.AS.indel.pos.vcf", EXPECTED_TEST_FILES_DIR),
+                String.format("%s/extract.AS.indel.pos.vcf", EXPECTED_TEST_FILES_DIR));
     }
 
     @Test(expectedExceptions = AssertionError.class, groups = {"python"}) // python environment is required to use h5diff
-    public void testRunSystemCommandH5diffException() {
-        runSystemCommand(String.format("h5diff %s/extract.AS.indel.pos.annot.hdf5 %s/extract.AS.snp.pos.annot.hdf5",
-                EXPECTED_TEST_FILES_DIR, EXPECTED_TEST_FILES_DIR));
+    public void testRunH5DiffException() {
+        runH5Diff(String.format("%s/extract.AS.indel.pos.annot.hdf5", EXPECTED_TEST_FILES_DIR),
+                  String.format("%s/extract.AS.snp.pos.annot.hdf5", EXPECTED_TEST_FILES_DIR));
     }
 
     @Test(expectedExceptions = AssertionError.class)
-    public void testRunSystemCommandDiffException() {
-        runSystemCommand(String.format("diff %s/extract.AS.indel.pos.vcf %s/extract.AS.snp.pos.vcf",
-                EXPECTED_TEST_FILES_DIR, EXPECTED_TEST_FILES_DIR));
+    public void testRunDiffException() {
+        runDiff(String.format("%s/extract.AS.indel.pos.vcf", EXPECTED_TEST_FILES_DIR),
+                String.format("%s/extract.AS.snp.pos.vcf", EXPECTED_TEST_FILES_DIR));
     }
 
     @Test(expectedExceptions = AssertionError.class)
-    public void testRunSystemCommandDiffNoSuchFileException() {
-        runSystemCommand(String.format("diff %s/blahblah %s/extract.AS.snp.pos.vcf",
-                EXPECTED_TEST_FILES_DIR, EXPECTED_TEST_FILES_DIR));
+    public void testRunDiffNoSuchFile() {
+        runDiff(String.format("%s/blahblah", EXPECTED_TEST_FILES_DIR),
+                String.format("%s/extract.AS.snp.pos.vcf", EXPECTED_TEST_FILES_DIR));
     }
 }
diff --git a/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/TrainVariantAnnotationsModelIntegrationTest.java b/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/TrainVariantAnnotationsModelIntegrationTest.java
index 4f631c77bf2..a9bc55c4f5a 100644
--- a/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/TrainVariantAnnotationsModelIntegrationTest.java
+++ b/src/test/java/org/broadinstitute/hellbender/tools/walkers/vqsr/scalable/TrainVariantAnnotationsModelIntegrationTest.java
@@ -13,6 +13,7 @@
 import org.broadinstitute.hellbender.tools.walkers.vqsr.scalable.modeling.VariantAnnotationsModelBackend;
 import org.broadinstitute.hellbender.utils.io.IOUtils;
 import org.broadinstitute.hellbender.utils.io.Resource;
+import org.broadinstitute.hellbender.utils.runtime.ProcessController;
 import org.testng.Assert;
 import org.testng.annotations.DataProvider;
 import org.testng.annotations.Test;
@@ -179,14 +180,13 @@ private static void assertExpectedOutputsForVariantType(final String tag,
         final String tagAndVariantType = String.format("%s.%s", tag, variantType);
         final String outputPrefixAndVariantType = String.format("%s.%s", outputPrefix, variantType);
 
-        SystemCommandUtilsTest.runSystemCommand(String.format("h5diff %s/%s %s",
-                EXPECTED_TEST_FILES_DIR,
-                tagAndVariantType + TrainVariantAnnotationsModel.TRAINING_SCORES_HDF5_SUFFIX,
-                outputPrefixAndVariantType + TrainVariantAnnotationsModel.TRAINING_SCORES_HDF5_SUFFIX));
-        SystemCommandUtilsTest.runSystemCommand(String.format("h5diff %s/%s %s",
-                EXPECTED_TEST_FILES_DIR,
-                tagAndVariantType + TrainVariantAnnotationsModel.CALIBRATION_SCORES_HDF5_SUFFIX,
-                outputPrefixAndVariantType + TrainVariantAnnotationsModel.CALIBRATION_SCORES_HDF5_SUFFIX));
+        SystemCommandUtilsTest.runH5Diff(
+                String.format("%s/%s", EXPECTED_TEST_FILES_DIR, tagAndVariantType + TrainVariantAnnotationsModel.TRAINING_SCORES_HDF5_SUFFIX),
+                String.format("%s", outputPrefixAndVariantType + TrainVariantAnnotationsModel.TRAINING_SCORES_HDF5_SUFFIX));
+
+        SystemCommandUtilsTest.runH5Diff(
+                String.format("%s/%s", EXPECTED_TEST_FILES_DIR, tagAndVariantType + TrainVariantAnnotationsModel.CALIBRATION_SCORES_HDF5_SUFFIX),
+                String.format("%s", outputPrefixAndVariantType + TrainVariantAnnotationsModel.CALIBRATION_SCORES_HDF5_SUFFIX));
 
         assertScorerExpectedOutputs(tagAndVariantType, outputPrefixAndVariantType);
 
@@ -252,12 +252,13 @@ public void testSNPOnlyModelsFromSNPOnlyAndSNPPlusIndelAnnotationsAreIdentical()
                 .apply(argsBuilderSNPPlusIndel);
         runCommandLine(argsBuilderSNPPlusIndel);
 
-        SystemCommandUtilsTest.runSystemCommand(String.format("h5diff %s %s",
+        SystemCommandUtilsTest.runH5Diff(
                 outputPrefixSNPOnly + ".snp" + TrainVariantAnnotationsModel.TRAINING_SCORES_HDF5_SUFFIX,
-                outputPrefixSNPPlusIndel + ".snp" + TrainVariantAnnotationsModel.TRAINING_SCORES_HDF5_SUFFIX));
-        SystemCommandUtilsTest.runSystemCommand(String.format("h5diff %s %s",
+                outputPrefixSNPPlusIndel + ".snp" + TrainVariantAnnotationsModel.TRAINING_SCORES_HDF5_SUFFIX);
+
+        SystemCommandUtilsTest.runH5Diff(
                 outputPrefixSNPOnly + ".snp" + TrainVariantAnnotationsModel.CALIBRATION_SCORES_HDF5_SUFFIX,
-                outputPrefixSNPPlusIndel + ".snp" + TrainVariantAnnotationsModel.CALIBRATION_SCORES_HDF5_SUFFIX));
+                outputPrefixSNPPlusIndel + ".snp" + TrainVariantAnnotationsModel.CALIBRATION_SCORES_HDF5_SUFFIX);
     }
 
     @Test(expectedExceptions = IllegalArgumentException.class) // python environment is required to run tool
diff --git a/src/testUtils/java/org/broadinstitute/hellbender/testutils/BaseTest.java b/src/testUtils/java/org/broadinstitute/hellbender/testutils/BaseTest.java
index 43581e2b330..c70660e9b2f 100644
--- a/src/testUtils/java/org/broadinstitute/hellbender/testutils/BaseTest.java
+++ b/src/testUtils/java/org/broadinstitute/hellbender/testutils/BaseTest.java
@@ -53,6 +53,17 @@ public static void runProcess(final ProcessController processController, final S
         runProcess(processController, command, "Process exited with non-zero value. Command: "+ Arrays.toString(command) + "\n");
     }
 
+    /**
+     * run an external process and assert that it finishes with exit code 0
+     * if it exits with non-zero, include the process stdout/stderr in the exception message
+     *
+     * @param processController a ProcessController to use
+     * @param command command to run, the 0th element must be the executable name
+     */
+    public static void runProcessAndCaptureOutputInExceptionMessage(final ProcessController processController, final String[] command) {
+        runProcess(processController, command, null,"Process exited with non-zero value. Command: "+ Arrays.toString(command) + "\n", true);
+    }
+
     /**
      * run an external process and assert that it finishes with exit code 0
      * @param processController a ProcessController to use
@@ -71,12 +82,37 @@ public static void runProcess(final ProcessController processController, final S
      * @param message error message to display on failure
      */
     public static void runProcess(final ProcessController processController, final String[] command, final Map environment, final String message) {
+        runProcess(processController, command, environment, message, false);
+    }
+
+    /**
+     * run an external process and assert that it finishes with exit code 0
+     * @param processController a ProcessController to use
+     * @param command command to run, the 0th element must be the executable name
+     * @param environment what to use as the process environment variables
+     * @param message error message to display on failure
+     * @param includeProcessOutputInExceptionMessage if true, include the process's stdout/stderr (if any) in the exception
+     *                                               message thrown upon exit with a non-zero value
+     */
+    public static void runProcess(final ProcessController processController, final String[] command, final Map environment, final String message, final boolean includeProcessOutputInExceptionMessage) {
         final ProcessSettings prs = new ProcessSettings(command);
         prs.getStderrSettings().printStandard(true);
         prs.getStdoutSettings().printStandard(true);
+
+        // Capture stdout/stderr to a buffer if we need to include it in the exception message
+        if ( includeProcessOutputInExceptionMessage ) {
+            prs.getStderrSettings().setBufferSize(65536);
+            prs.getStdoutSettings().setBufferSize(65536);
+        }
+
         prs.setEnvironment(environment);
         final ProcessOutput output = processController.exec(prs);
-        Assert.assertEquals(output.getExitValue(), 0, message);
+
+        final String fullMessage = includeProcessOutputInExceptionMessage ?
+                message + "\n***Process stdout:***\n" + output.getStdout() + "\n***Process stderr:***\n" + output.getStderr() :
+                message;
+
+        Assert.assertEquals(output.getExitValue(), 0, fullMessage);
     }
 
     /**

From 75f5104f7d76f457f7dc617c584b7af15009ac8a Mon Sep 17 00:00:00 2001
From: droazen 
Date: Wed, 13 Dec 2023 14:32:00 -0500
Subject: [PATCH 19/64] build_docker_remote: add ability to specify the RELEASE
 arg to the cloud-based docker build, and add a release script (#8247)

* Added a -r argument to build_docker_remote.sh to toggle the RELEASE flag during
  docker builds

* Added a release_prebuilt_docker_image.sh to release a prebuilt docker image to the
  official repos
---
 build_docker_remote.sh                        | 66 ++++++++++++++-----
 .../docker/release_prebuilt_docker_image.sh   | 62 +++++++++++++++++
 2 files changed, 113 insertions(+), 15 deletions(-)
 create mode 100644 scripts/docker/release_prebuilt_docker_image.sh

diff --git a/build_docker_remote.sh b/build_docker_remote.sh
index 72534a02b03..188519ff471 100755
--- a/build_docker_remote.sh
+++ b/build_docker_remote.sh
@@ -1,12 +1,26 @@
 #!/usr/bin/env bash
 #
-# Build (and optionally push) a GATK docker image to GCR using Google Cloud Build. Images are built in the cloud rather than locally. Pushing to dockerhub is not supported by this script.
+# Build (and optionally push) a GATK docker image to GCR using Google Cloud Build. Images are built
+# in the cloud rather than locally. Pushing to dockerhub is not supported by this script.
 #
-# If you are pushing an image to our release repositories, be sure that you've followed
-# the setup instructions here:
-# https://github.com/broadinstitute/gatk/wiki/How-to-release-GATK4#setup_docker
-# and here:
-# https://github.com/broadinstitute/gatk/wiki/How-to-release-GATK4#setup_gcloud
+# By default the images are pushed to the following GCR repository:
+#
+# us.gcr.io/broad-dsde-methods/broad-gatk-snapshots/gatk-remote-builds
+#
+# with a name like "${YOUR_USERNAME}-${GITHUB_TAG}-${GIT_HASH_FOR_TAG}"
+#
+# This script should not be used to push to our release repositories. After
+# you've built and staged an image, run the scripts/docker/release_prebuilt_docker_image.sh
+# script to push to the release repositories.
+#
+# Usage: build_docker_remote.sh -e  -d  [-str]
+#
+# where  is the github tag (or hash when -s is used) to use in building the docker image (e.g. 4.2.6.1)
+# and  is a directory in which to clone the repo and stage the build (DO NOT SPECIFY YOUR WORKING DIRECTORY)
+# Optional arguments:
+#   -s  The GITHUB_TAG (-e parameter) is actually a github hash, not tag.
+#   -r  Build this image with the release flag set to true, causing the version number to not end with SNAPSHOT
+#   -t   The tag to assign image once it is finished constructing.  NOTE: currently this MUST be on either GCR or the Google Artifact Registry.
 #
 
 # Have script stop if there is an error
@@ -20,24 +34,35 @@ STAGING_CLONE_DIR=${PROJECT}_staging_temp
 #################################################
 # Parsing arguments
 #################################################
-while getopts "e:sd:t:" option; do
+while getopts "e:sd:t:r" option; do
 	case "$option" in
 		e) GITHUB_TAG="$OPTARG" ;;
 		s) IS_HASH=true ;;
 		d) STAGING_DIR="$OPTARG" ;;
 		t) DOCKER_IMAGE_TAG="$OPTARG" ;;
+		r) RELEASE=true ;;
 	esac
 done
 
-if [ -z "$GITHUB_TAG" ]; then
-	printf "Option -e requires an argument.\n \
-Usage: %s: -e  [-sdt] \n \
-where  is the github tag (or hash when -s is used) to use in building the docker image\n \
-(e.g. bash build_docker_remote.sh -e 4.2.6.1 )\n \
+function usage() {
+  MESSAGE=$1
+	printf "%s\n \
+Usage: build_docker_remote.sh -e  -d  [-str] \n \
+where  is the github tag (or hash when -s is used) to use in building the docker image (e.g. 4.2.6.1)\n \
+and  is a directory in which to clone the repo and stage the build (DO NOT SPECIFY YOUR WORKING DIRECTORY)\n \
 Optional arguments:  \n \
 -s \t The GITHUB_TAG (-e parameter) is actually a github hash, not tag.  \n \
--d  \t staging directory to grab code from repo and build the docker image.  If unspecified, then use whatever is in current dir (do not go to the repo).  NEVER SPECIFY YOUR WORKING DIR \n \
--t \t  The tag to assign image once it is finished constructing.  NOTE: currently this MUST be on either GCR or the Google Artifact Registry. \n" $0
+-r \t Build this image with the release flag set to true, causing the version number to not end with SNAPSHOT \n \
+-t \t  The tag to assign image once it is finished constructing.  NOTE: currently this MUST be on either GCR or the Google Artifact Registry. \n" "$MESSAGE"
+}
+
+if [ -z "$GITHUB_TAG" ]; then
+	usage "Option -e (github tag) requires an argument."
+	exit 1
+fi
+
+if [ -z "$STAGING_DIR" ]; then
+	usage "Option -d (staging directory) requires an argument."
 	exit 1
 fi
 
@@ -49,6 +74,7 @@ echo "Other options (Blank is false)"
 echo "---------------"
 echo "This is a git hash: ${IS_HASH}"
 echo "Staging directory: ${STAGING_DIR}"
+echo "Release: ${RELEASE}"
 
 ORIGINAL_WORKING_DIRECTORY=$(pwd)
 
@@ -81,9 +107,19 @@ if [ -z "$DOCKER_IMAGE_TAG" ]; then
   DOCKER_IMAGE_TAG=${GCR_REPO}:$(whoami)-${GITHUB_TAG}-${GIT_HASH_FOR_TAG}
 fi
 
+echo "steps:" >> cloudbuild.yaml
+echo "- name: 'gcr.io/cloud-builders/docker'" >> cloudbuild.yaml
+if [ -n "$RELEASE" ]; then
+  echo "  args: [ 'build', '-t', '${DOCKER_IMAGE_TAG}', '--build-arg', 'RELEASE=true', '.' ]" >> cloudbuild.yaml
+else
+  echo "  args: [ 'build', '-t', '${DOCKER_IMAGE_TAG}', '.' ]" >> cloudbuild.yaml
+fi
+echo "- name: 'gcr.io/cloud-builders/docker'" >> cloudbuild.yaml
+echo "  args: [ 'push', '${DOCKER_IMAGE_TAG}' ]" >> cloudbuild.yaml
+
 echo "Building image with the tag ${DOCKER_IMAGE_TAG}..."
 
-SUBMIT_COMMAND="gcloud builds submit --tag ${DOCKER_IMAGE_TAG} --timeout=24h --machine-type n1_highcpu_8"
+SUBMIT_COMMAND="gcloud builds submit --config cloudbuild.yaml --timeout=24h --machine-type n1_highcpu_32"
 echo "running the following gcloud command: ${SUBMIT_COMMAND}"
 ## We need to override the default .gcloudignore to preserve the .git directory which we need in order to download LFS files in the remote build.
 echo -n "" >> .gcloudignore
diff --git a/scripts/docker/release_prebuilt_docker_image.sh b/scripts/docker/release_prebuilt_docker_image.sh
new file mode 100644
index 00000000000..ca4b65b6c56
--- /dev/null
+++ b/scripts/docker/release_prebuilt_docker_image.sh
@@ -0,0 +1,62 @@
+#!/bin/bash
+#
+# A script that takes a prebuilt docker image, and pushes it to the GATK release repositories on
+# dockerhub and GCR
+#
+# Usage: release_prebuilt_docker_image.sh  
+#
+# If the prebuilt image exists locally, this script will push the local version. Otherwise,
+# it will pull the image from the remote repository before pushing it to the GATK release
+# repositories.
+#
+# prebuilt_image: The pre-built image you want to release (make sure you've tested it!)
+#                 May be either local or remote
+# version_tag_for_release: The version of GATK you're releasing (eg., 4.0.0.0)
+#
+
+if [ $# -ne 2 ]; then
+  echo "Usage: $0  "
+  exit 1
+fi
+
+PREBUILT_IMAGE="$1"
+VERSION="$2"
+DOCKERHUB_REPO="broadinstitute/gatk"
+GCR_REPO="us.gcr.io/broad-gatk/gatk"
+
+function fatal_error() {
+  echo "$1" 1>&2
+  exit 1
+}
+
+function docker_push() {
+  echo "Pushing to ${1}"
+  docker push "${1}"
+  if [ $? -ne 0 ]; then
+    fatal_error "Failed to push to ${1}"
+  fi
+}
+
+# Test if the prebuilt image exists locally, and pull it if it doesn't
+docker image inspect "${PREBUILT_IMAGE}" > /dev/null 2>&1
+if [ $? -ne 0 ]; then
+  echo "Image ${PREBUILT_IMAGE} not found locally: attempting to pull it now"
+  docker pull "${PREBUILT_IMAGE}"
+  if [ $? -ne 0 ]; then
+    fatal_error "Failed to pull pre-built image ${PREBUILT_IMAGE}"
+  fi
+else
+  echo "Image ${PREBUILT_IMAGE} found locally: pushing it to the release repositories"
+fi
+
+docker tag "${PREBUILT_IMAGE}" "${DOCKERHUB_REPO}:${VERSION}"
+docker tag "${DOCKERHUB_REPO}:${VERSION}" "${DOCKERHUB_REPO}:latest"
+docker tag "${PREBUILT_IMAGE}" "${GCR_REPO}:${VERSION}"
+docker tag "${GCR_REPO}:${VERSION}" "${GCR_REPO}:latest"
+
+docker_push "${DOCKERHUB_REPO}:${VERSION}"
+docker_push "${DOCKERHUB_REPO}:latest"
+docker_push "${GCR_REPO}:${VERSION}"
+docker_push "${GCR_REPO}:latest"
+
+exit 0
\ No newline at end of file

From 23c8071a653bbee5188d4e0346585fe710e46958 Mon Sep 17 00:00:00 2001
From: Louis Bergelson 
Date: Wed, 13 Dec 2023 15:29:13 -0500
Subject: [PATCH 20/64] Update to htsjdk 4.1.0 (#8620)

* update to htsjdk 4.1.0 which enables http-nio in more cases
* remove several test cases handling genomicsdb path parsing which were testing nonsensical paths that are now illegal
---
 build.gradle                                                   | 2 +-
 .../broadinstitute/hellbender/engine/FeatureInputUnitTest.java | 3 ---
 .../broadinstitute/hellbender/utils/io/IOUtilsUnitTest.java    | 2 --
 3 files changed, 1 insertion(+), 6 deletions(-)

diff --git a/build.gradle b/build.gradle
index d580ab8bfd0..eb5b72829b1 100644
--- a/build.gradle
+++ b/build.gradle
@@ -57,7 +57,7 @@ repositories {
     mavenLocal()
 }
 
-final htsjdkVersion = System.getProperty('htsjdk.version','4.0.2')
+final htsjdkVersion = System.getProperty('htsjdk.version','4.1.0')
 final picardVersion = System.getProperty('picard.version','3.1.1')
 final barclayVersion = System.getProperty('barclay.version','5.0.0')
 final sparkVersion = System.getProperty('spark.version', '3.3.1')
diff --git a/src/test/java/org/broadinstitute/hellbender/engine/FeatureInputUnitTest.java b/src/test/java/org/broadinstitute/hellbender/engine/FeatureInputUnitTest.java
index a3aec293eec..9c09edb1a28 100644
--- a/src/test/java/org/broadinstitute/hellbender/engine/FeatureInputUnitTest.java
+++ b/src/test/java/org/broadinstitute/hellbender/engine/FeatureInputUnitTest.java
@@ -91,19 +91,16 @@ public Object[][] genDbPathAndNameData() {
                 {"argName:myname", "gendb://myJsons", "gendb://myJsons", "myname"},
                 {"argName:myname,key1=value1", "gendb://myJsons", "gendb://myJsons", "myname"},
                 {"argName:myname//", "gendb://myJsons", "gendb://myJsons", "myname//"},
-                {"argName:myname", "gendb://", "gendb://", "myname"},
 
                 {"argName", "gendb.gs://myBucket/myJsons", "gendb.gs://myBucket/myJsons", "gendb.gs://myBucket/myJsons"},
                 {"argName:myname", "gendb.gs://myJsons", "gendb.gs://myJsons", "myname"},
                 {"argName:myname,key1=value1", "gendb.gs://myJsons", "gendb.gs://myJsons", "myname"},
                 {"argName:myname//", "gendb.gs://myJsons", "gendb.gs://myJsons", "myname//"},
-                {"argName:myname", "gendb.gs://", "gendb.gs://", "myname"},
 
                 {"argName", "gendb.hdfs://localhost/myJsons", "gendb.hdfs://localhost/myJsons", "gendb.hdfs://localhost/myJsons"},
                 {"argName:myname", "gendb.hdfs://myJsons", "gendb.hdfs://myJsons", "myname"},
                 {"argName:myname,key1=value1", "gendb.hdfs://myJsons", "gendb.hdfs://myJsons", "myname"},
                 {"argName:myname//", "gendb.hdfs://myJsons", "gendb.hdfs://myJsons", "myname//"},
-                {"argName:myname", "gendb.hdfs://", "gendb.hdfs://", "myname"}
         };
     }
     
diff --git a/src/test/java/org/broadinstitute/hellbender/utils/io/IOUtilsUnitTest.java b/src/test/java/org/broadinstitute/hellbender/utils/io/IOUtilsUnitTest.java
index 2ac6a803dc1..a392f358929 100644
--- a/src/test/java/org/broadinstitute/hellbender/utils/io/IOUtilsUnitTest.java
+++ b/src/test/java/org/broadinstitute/hellbender/utils/io/IOUtilsUnitTest.java
@@ -687,7 +687,6 @@ public Object[][] genomicsDBTestPathData() {
                 {"fdfdf", null, null, false},
                 {"gendbdfdfdf://fdfdf", null, null, false},
                 {"gendb-dfdfdf://fdfdf", null, null, false},
-                {"gendb-dfdfdf://", null, null, false},
                 {"gendb", null, null, false},
                 {"gendbdfdf", null, null, false},
                 {"agendb://dfdfd", null, null, false},
@@ -696,7 +695,6 @@ public Object[][] genomicsDBTestPathData() {
 
                 {"gendb.dfdfdf://fdfdf", "dfdfdf://fdfdf", "gendb.dfdfdf://fdfdf", true},
                 {"gendb://fdfdf", "fdfdf", "gendb://" + new File("fdfdf").getAbsolutePath(), true},
-                {"gendb://", "", "gendb://" + new File("").getAbsolutePath(), true},
                 {"gendb:///fdfd", "/fdfd", "gendb:///fdfd", true},
                 {"gendb:///", "/", "gendb:///", true},
                 {"gendb.hdfs://this-node:9000/dir", "hdfs://this-node:9000/dir", "gendb.hdfs://this-node:9000/dir", true},

From 70ee5536d1f8159620ca3d561e55b79b5deee262 Mon Sep 17 00:00:00 2001
From: droazen 
Date: Wed, 13 Dec 2023 17:21:35 -0500
Subject: [PATCH 21/64] Fix the Spark version in the GATK jar manifest, and
 used the right constant in build.gradle (#8625)

---
 build.gradle | 6 +++---
 1 file changed, 3 insertions(+), 3 deletions(-)

diff --git a/build.gradle b/build.gradle
index eb5b72829b1..c73d5cd39f4 100644
--- a/build.gradle
+++ b/build.gradle
@@ -60,7 +60,7 @@ repositories {
 final htsjdkVersion = System.getProperty('htsjdk.version','4.1.0')
 final picardVersion = System.getProperty('picard.version','3.1.1')
 final barclayVersion = System.getProperty('barclay.version','5.0.0')
-final sparkVersion = System.getProperty('spark.version', '3.3.1')
+final sparkVersion = System.getProperty('spark.version', '3.5.0')
 final hadoopVersion = System.getProperty('hadoop.version', '3.3.6')
 final disqVersion = System.getProperty('disq.version','0.3.8')
 final genomicsdbVersion = System.getProperty('genomicsdb.version','1.5.1')
@@ -298,8 +298,8 @@ dependencies {
         exclude group: 'org.apache.commons'
     }
 
-    //there is no mllib_2.12.15:3.3.0, so stay use 2.12:3.3.0
-    implementation ('org.apache.spark:spark-mllib_2.12:3.5.0') {
+    // TODO: migrate to mllib_2.12.15?
+    implementation ('org.apache.spark:spark-mllib_2.12:' + sparkVersion) {
         // JUL is used by Google Dataflow as the backend logger, so exclude jul-to-slf4j to avoid a loop
         exclude module: 'jul-to-slf4j'
         exclude module: 'javax.servlet'

From 8317d8bdd86fc7e83d4a094be2197bd012afe838 Mon Sep 17 00:00:00 2001
From: Louis Bergelson 
Date: Wed, 13 Dec 2023 17:35:53 -0500
Subject: [PATCH 22/64] Update http-nio to 1.1.0 which implements
 Path.resolve() methods (#8626)

* This should make http access seamless in many places

* The way this handles query parameters is not ideal for signed url cases so we'll need to revisit that
---
 build.gradle | 2 +-
 1 file changed, 1 insertion(+), 1 deletion(-)

diff --git a/build.gradle b/build.gradle
index c73d5cd39f4..880961ce46d 100644
--- a/build.gradle
+++ b/build.gradle
@@ -336,7 +336,7 @@ dependencies {
     implementation 'org.broadinstitute:gatk-bwamem-jni:1.0.4'
     implementation 'org.broadinstitute:gatk-fermilite-jni:1.2.0'
 
-    implementation 'org.broadinstitute:http-nio:1.0.0'
+    implementation 'org.broadinstitute:http-nio:1.1.0'
 
     // Required for COSMIC Funcotator data source:
     implementation 'org.xerial:sqlite-jdbc:3.44.1.0'

From fd873e97692737667aeade38efd136a738f04e47 Mon Sep 17 00:00:00 2001
From: John Marshall 
Date: Fri, 15 Dec 2023 08:11:47 +1300
Subject: [PATCH 23/64] Fix GT header in PostprocessGermlineCNVCalls's
 --output-genotyped-intervals output (#8621)

* Write gCNV interval output ID=GT header as Type=String

Incorrectly writing this as Type=Integer causes bcftools to misparse
the genotype field.

* Use correct header types and numbers in test VCF file
---
 .../gcnv/GermlineCNVIntervalVariantComposer.java   |  2 +-
 .../walkers/variantutils/ReblockGVCFUnitTest.java  | 14 +++++++-------
 2 files changed, 8 insertions(+), 8 deletions(-)

diff --git a/src/main/java/org/broadinstitute/hellbender/tools/copynumber/gcnv/GermlineCNVIntervalVariantComposer.java b/src/main/java/org/broadinstitute/hellbender/tools/copynumber/gcnv/GermlineCNVIntervalVariantComposer.java
index 421dda1ec1d..3c34b34bf43 100644
--- a/src/main/java/org/broadinstitute/hellbender/tools/copynumber/gcnv/GermlineCNVIntervalVariantComposer.java
+++ b/src/main/java/org/broadinstitute/hellbender/tools/copynumber/gcnv/GermlineCNVIntervalVariantComposer.java
@@ -95,7 +95,7 @@ public void composeVariantContextHeader(final SAMSequenceDictionary sequenceDict
 
         /* header lines related to genotype formatting */
         result.addMetaDataLine(new VCFFormatHeaderLine(VCFConstants.GENOTYPE_KEY, 1,
-                VCFHeaderLineType.Integer, "Genotype"));
+                VCFHeaderLineType.String, "Genotype"));
         result.addMetaDataLine(new VCFFormatHeaderLine(CN, 1,
                 VCFHeaderLineType.Integer, "Copy number maximum a posteriori value"));
         result.addMetaDataLine(new VCFFormatHeaderLine(CNLP, VCFHeaderLineCount.UNBOUNDED,
diff --git a/src/test/java/org/broadinstitute/hellbender/tools/walkers/variantutils/ReblockGVCFUnitTest.java b/src/test/java/org/broadinstitute/hellbender/tools/walkers/variantutils/ReblockGVCFUnitTest.java
index 9ee3d08682b..3a15b204383 100644
--- a/src/test/java/org/broadinstitute/hellbender/tools/walkers/variantutils/ReblockGVCFUnitTest.java
+++ b/src/test/java/org/broadinstitute/hellbender/tools/walkers/variantutils/ReblockGVCFUnitTest.java
@@ -408,16 +408,16 @@ private GVCFWriter setUpWriter(final File outputFile, final File dictionary) thr
         result.setSequenceDictionary(dict);
         result.addMetaDataLine(new VCFFormatHeaderLine(VCFConstants.GENOTYPE_KEY, 1,
                 VCFHeaderLineType.String,  "genotype"));
-        result.addMetaDataLine(new VCFFormatHeaderLine(VCFConstants.GENOTYPE_ALLELE_DEPTHS, 1,
-                VCFHeaderLineType.String, "Allele depth"));
+        result.addMetaDataLine(new VCFFormatHeaderLine(VCFConstants.GENOTYPE_ALLELE_DEPTHS, VCFHeaderLineCount.R,
+                VCFHeaderLineType.Integer, "Allele depth"));
         result.addMetaDataLine(new VCFFormatHeaderLine(VCFConstants.DEPTH_KEY, 1,
-                VCFHeaderLineType.String, " depth"));
+                VCFHeaderLineType.Integer, " depth"));
         result.addMetaDataLine(new VCFInfoHeaderLine(VCFConstants.DEPTH_KEY, 1,
-                VCFHeaderLineType.String, " depth"));
+                VCFHeaderLineType.Integer, " depth"));
         result.addMetaDataLine(new VCFFormatHeaderLine(VCFConstants.GENOTYPE_QUALITY_KEY, 1,
-                VCFHeaderLineType.String, "Genotype quality"));
-        result.addMetaDataLine(new VCFFormatHeaderLine(VCFConstants.GENOTYPE_PL_KEY, 1,
-                VCFHeaderLineType.String, "Phred-scaled likelihoods"));
+                VCFHeaderLineType.Integer, "Genotype quality"));
+        result.addMetaDataLine(new VCFFormatHeaderLine(VCFConstants.GENOTYPE_PL_KEY, VCFHeaderLineCount.G,
+                VCFHeaderLineType.Integer, "Phred-scaled likelihoods"));
         gvcfWriter.writeHeader(result);
         return gvcfWriter;
     }

From 39cfbba7615d41d21096734be061b38d09abcb2d Mon Sep 17 00:00:00 2001
From: droazen 
Date: Thu, 14 Dec 2023 14:12:49 -0500
Subject: [PATCH 24/64] Output the new image name at the end of a successful
 cloud docker build (#8627)

---
 build_docker_remote.sh | 2 ++
 1 file changed, 2 insertions(+)

diff --git a/build_docker_remote.sh b/build_docker_remote.sh
index 188519ff471..7eada9565c3 100755
--- a/build_docker_remote.sh
+++ b/build_docker_remote.sh
@@ -125,6 +125,8 @@ echo "running the following gcloud command: ${SUBMIT_COMMAND}"
 echo -n "" >> .gcloudignore
 ${SUBMIT_COMMAND}
 
+echo "Image successfully built and pushed to ${DOCKER_IMAGE_TAG}"
+
 cd ${ORIGINAL_WORKING_DIRECTORY}
 if [ -n "$STAGING_DIR" ] ; then
     rm -Rf ${STAGING_DIR}/${STAGING_CLONE_DIR}

From b68fadc5fe9ab1576c82725442200788187ff6fc Mon Sep 17 00:00:00 2001
From: Mark Walker 
Date: Thu, 14 Dec 2023 15:08:10 -0500
Subject: [PATCH 25/64] Reduce SVConcordance memory footprint (#8623)

---
 .../hellbender/tools/sv/SVCallRecord.java     |  8 +++-
 .../tools/sv/concordance/ClosestSVFinder.java | 20 ++++++++-
 .../tools/walkers/sv/SVConcordance.java       | 43 +++++++++++++++++--
 .../sv/SVConcordanceIntegrationTest.java      | 30 ++++++++++---
 4 files changed, 88 insertions(+), 13 deletions(-)

diff --git a/src/main/java/org/broadinstitute/hellbender/tools/sv/SVCallRecord.java b/src/main/java/org/broadinstitute/hellbender/tools/sv/SVCallRecord.java
index 8edcd595881..0f95878b389 100644
--- a/src/main/java/org/broadinstitute/hellbender/tools/sv/SVCallRecord.java
+++ b/src/main/java/org/broadinstitute/hellbender/tools/sv/SVCallRecord.java
@@ -132,8 +132,12 @@ private void validateCoordinates(final SAMSequenceDictionary dictionary) {
         Utils.nonNull(dictionary);
         validatePosition(contigA, positionA, dictionary);
         validatePosition(contigB, positionB, dictionary);
-        Utils.validateArg(IntervalUtils.compareLocatables(getPositionAInterval(), getPositionBInterval(), dictionary) <= 0,
-                "End coordinate cannot precede start");
+        // CPX types may have position B precede A, such as dispersed duplications where A is the insertion point and
+        // B references the source sequence.
+        if (type != GATKSVVCFConstants.StructuralVariantAnnotationType.CPX) {
+            Utils.validateArg(IntervalUtils.compareLocatables(getPositionAInterval(), getPositionBInterval(), dictionary) <= 0,
+                    "End coordinate cannot precede start");
+        }
     }
 
     private static void validatePosition(final String contig, final int position, final SAMSequenceDictionary dictionary) {
diff --git a/src/main/java/org/broadinstitute/hellbender/tools/sv/concordance/ClosestSVFinder.java b/src/main/java/org/broadinstitute/hellbender/tools/sv/concordance/ClosestSVFinder.java
index da4e66f3fb6..9ca5056a679 100644
--- a/src/main/java/org/broadinstitute/hellbender/tools/sv/concordance/ClosestSVFinder.java
+++ b/src/main/java/org/broadinstitute/hellbender/tools/sv/concordance/ClosestSVFinder.java
@@ -31,6 +31,7 @@
  */
 public class ClosestSVFinder {
 
+    protected final boolean sortOutput;
     protected final Map truthIdToItemMap;
     protected final Map idToClusterMap;
     private final SVConcordanceLinkage linkage;
@@ -49,7 +50,9 @@ public class ClosestSVFinder {
      */
     public ClosestSVFinder(final SVConcordanceLinkage linkage,
                            final Function collapser,
+                           final boolean sortOutput,
                            final SAMSequenceDictionary dictionary) {
+        this.sortOutput = sortOutput;
         this.linkage = Utils.nonNull(linkage);
         this.collapser = Utils.nonNull(collapser);
         outputBuffer = new PriorityQueue<>(SVCallRecordUtils.getCallComparator(dictionary));
@@ -60,6 +63,15 @@ public ClosestSVFinder(final SVConcordanceLinkage linkage,
         lastItemContig = null;
     }
 
+    /**
+     * Sorts output by default
+     */
+    public ClosestSVFinder(final SVConcordanceLinkage linkage,
+                           final Function collapser,
+                           final SAMSequenceDictionary dictionary) {
+        this(linkage, collapser, true, dictionary);
+    }
+
     /**
      * Should be run frequently to reduce memory usage. Forced flushes must be run when a new contig is encountered.
      * @param force flushes all variants in the output buffer regardless of position
@@ -70,8 +82,12 @@ public List flush(final boolean force) {
                 .map(c -> new ClosestPair(c.getItem(), c.getClosest()))
                 .map(collapser)
                 .collect(Collectors.toList());
-        outputBuffer.addAll(collapsedRecords);
-        return flushBuffer(force);
+        if (sortOutput) {
+            outputBuffer.addAll(collapsedRecords);
+            return flushBuffer(force);
+        } else {
+            return collapsedRecords;
+        }
     }
 
     /**
diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/sv/SVConcordance.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/sv/SVConcordance.java
index f5a9d247c0a..d53c3a22b0b 100644
--- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/sv/SVConcordance.java
+++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/sv/SVConcordance.java
@@ -2,6 +2,8 @@
 
 import com.google.common.collect.Sets;
 import htsjdk.samtools.SAMSequenceDictionary;
+import htsjdk.variant.variantcontext.Genotype;
+import htsjdk.variant.variantcontext.GenotypeBuilder;
 import htsjdk.variant.variantcontext.VariantContext;
 import htsjdk.variant.variantcontext.VariantContextBuilder;
 import htsjdk.variant.variantcontext.writer.VariantContextWriter;
@@ -30,8 +32,8 @@
 import org.broadinstitute.hellbender.utils.SequenceDictionaryUtils;
 import picard.vcf.GenotypeConcordance;
 
-import java.util.HashSet;
-import java.util.Set;
+import java.util.*;
+import java.util.stream.Collectors;
 
 /**
  * 
      This tool calculates SV genotype concordance between an "evaluation" VCF and a "truth" VCF. For each evaluation
@@ -50,6 +52,8 @@
  * of the specific fields. For multi-allelic CNVs, only a copy state concordance metric is
  * annotated. Allele frequencies will be recalculated automatically if unavailable in the provided VCFs.
  *
+ * For large inputs, users may enable the --do-not-sort flag to reduce memory usage.
+ *
  * 
      Inputs
      
  *
  * 
        
@@ -90,7 +94,7 @@
 @DocumentedFeature
 public final class SVConcordance extends AbstractConcordanceWalker {
 
-    public static final String USE_TRUTH_AF_LONG_NAME = "use-truth-af";
+    public static final String UNSORTED_OUTPUT_LONG_NAME = "do-not-sort";
 
     @Argument(
             doc = "Output VCF",
@@ -99,6 +103,12 @@ public final class SVConcordance extends AbstractConcordanceWalker {
     )
     private GATKPath outputFile;
 
+    @Argument(
+            doc = "Skip output sorting. This can substantially reduce memory usage.",
+            fullName = UNSORTED_OUTPUT_LONG_NAME
+    )
+    private boolean doNotSort;
+
     @ArgumentCollection
     private final SVClusterEngineArgumentsCollection clusterParameterArgs = new SVClusterEngineArgumentsCollection();
 
@@ -136,8 +146,11 @@ public void onTraversalStart() {
                 new HashSet<>(getEvalHeader().getGenotypeSamples()),
                 new HashSet<>(getTruthHeader().getGenotypeSamples()));
         final SVConcordanceAnnotator collapser = new SVConcordanceAnnotator(commonSamples);
-        engine = new ClosestSVFinder(linkage, collapser::annotate, dictionary);
+        engine = new ClosestSVFinder(linkage, collapser::annotate, !doNotSort, dictionary);
 
+        if (doNotSort) {
+            createOutputVariantIndex = false;
+        }
         writer = createVCFWriter(outputFile);
         writer.writeHeader(createHeader(getEvalHeader()));
     }
@@ -172,10 +185,32 @@ private void add(final VariantContext variant, final boolean isTruth) {
             flushClusters(true);
             currentContig = record.getContigA();
         }
+        if (isTruth) {
+            record = minimizeTruthFootprint(record);
+        }
         engine.add(record, isTruth);
         flushClusters(false);
     }
 
+    /**
+     * Strips unneeded attributes from a truth variant to save memory.
+     */
+    protected SVCallRecord minimizeTruthFootprint(final SVCallRecord item) {
+        final List genotypes = item.getGenotypes().stream().map(SVConcordance::stripTruthGenotype).collect(Collectors.toList());
+        return new SVCallRecord(item.getId(), item.getContigA(), item.getPositionA(),
+                item.getStrandA(), item.getContigB(), item.getPositionB(), item.getStrandB(), item.getType(),
+                item.getCpxSubtype(), item.getLength(), item.getAlgorithms(), item.getAlleles(), genotypes,
+                item.getAttributes(), item.getFilters(), item.getLog10PError(), dictionary);
+    }
+
+    private static Genotype stripTruthGenotype(final Genotype genotype) {
+        final GenotypeBuilder builder = new GenotypeBuilder(genotype.getSampleName()).alleles(genotype.getAlleles());
+        if (genotype.hasExtendedAttribute(GATKSVVCFConstants.COPY_NUMBER_FORMAT)) {
+            builder.attribute(GATKSVVCFConstants.COPY_NUMBER_FORMAT, genotype.getExtendedAttribute(GATKSVVCFConstants.COPY_NUMBER_FORMAT));
+        }
+        return builder.make();
+    }
+
     @Override
     protected boolean areVariantsAtSameLocusConcordant(final VariantContext truth, final VariantContext eval) {
         return true;
diff --git a/src/test/java/org/broadinstitute/hellbender/tools/walkers/sv/SVConcordanceIntegrationTest.java b/src/test/java/org/broadinstitute/hellbender/tools/walkers/sv/SVConcordanceIntegrationTest.java
index 7f846624de4..6f4157724d4 100644
--- a/src/test/java/org/broadinstitute/hellbender/tools/walkers/sv/SVConcordanceIntegrationTest.java
+++ b/src/test/java/org/broadinstitute/hellbender/tools/walkers/sv/SVConcordanceIntegrationTest.java
@@ -38,7 +38,7 @@ public class SVConcordanceIntegrationTest extends CommandLineProgramTest {
 
     @Test
     public void testRefPanel() {
-        final File output = createTempFile("concord", ".vcf");
+        final File output = createTempFile("concord", ".vcf.gz");
         final String evalVcfPath = getToolTestDataDir() + "ref_panel_1kg.cleaned.gatk.chr22_chrY.vcf.gz";
         /**
          * Test file produced from raw standardized VCFs from manta, melt, wham, and cnv callers with SVCluster parameters:
@@ -171,7 +171,7 @@ public void testSelf() {
 
         // Run a vcf against itself and check that every variant matched itself
 
-        final File output = createTempFile("concord", ".vcf");
+        final File output = createTempFile("concord", ".vcf.gz");
         final String vcfPath = getToolTestDataDir() + "ref_panel_1kg.cleaned.gatk.chr22_chrY.vcf.gz";
 
         final ArgumentsBuilder args = new ArgumentsBuilder()
@@ -260,7 +260,7 @@ public void testSelfEvalSubset() {
 
         // Run a vcf against itself but with extra samples and variants
 
-        final File output = createTempFile("concord", ".vcf");
+        final File output = createTempFile("concord", ".vcf.gz");
         final String evalVcfPath = getToolTestDataDir() + "ref_panel_1kg.cleaned.gatk.chr22_chrY.sample_subset.vcf.gz";
         final String truthVcfPath = getToolTestDataDir() + "ref_panel_1kg.cleaned.gatk.chr22_chrY.vcf.gz";
 
@@ -322,7 +322,7 @@ private void assertPerfectConcordance(final File output, final String evalVcfPat
 
     @Test
     public void testSitesOnly() {
-        final File output = createTempFile("concord_sites_only", ".vcf");
+        final File output = createTempFile("concord_sites_only", ".vcf.gz");
         final String evalVcfPath = getToolTestDataDir() + "ref_panel_1kg.cleaned.gatk.chr22_chrY.sites_only.vcf.gz";
         final String truthVcfPath = getToolTestDataDir() + "ref_panel_1kg.raw_calls.chr22_chrY.sites_only.vcf.gz";
 
@@ -358,7 +358,7 @@ public void testSitesOnly() {
 
     @Test(expectedExceptions = UserException.IncompatibleSequenceDictionaries.class)
     public void testHeaderContigsOutOfOrder() {
-        final File output = createTempFile("concord_sites_only", ".vcf");
+        final File output = createTempFile("concord_sites_only", ".vcf.gz");
         final String evalVcfPath = getToolTestDataDir() + "ref_panel_1kg.cleaned.gatk.chr22_chrY.vcf.gz";
         final String truthVcfPath = getToolTestDataDir() + "ref_panel_1kg.cleaned.gatk.chr22_chrY.contigs_out_of_order.vcf.gz";
 
@@ -370,4 +370,24 @@ public void testHeaderContigsOutOfOrder() {
 
         runCommandLine(args, SVConcordance.class.getSimpleName());
     }
+
+    @Test
+    public void testSelfUnsorted() {
+
+        // Run a vcf against itself but don't sort the output
+
+        final File output = createTempFile("concord", ".vcf");
+        final String evalVcfPath = getToolTestDataDir() + "ref_panel_1kg.cleaned.gatk.chr22_chrY.vcf.gz";
+        final String truthVcfPath = getToolTestDataDir() + "ref_panel_1kg.cleaned.gatk.chr22_chrY.vcf.gz";
+
+        final ArgumentsBuilder args = new ArgumentsBuilder()
+                .addOutput(output)
+                .add(StandardArgumentDefinitions.SEQUENCE_DICTIONARY_NAME, GATKBaseTest.FULL_HG38_DICT)
+                .add(AbstractConcordanceWalker.EVAL_VARIANTS_LONG_NAME, evalVcfPath)
+                .add(AbstractConcordanceWalker.TRUTH_VARIANTS_LONG_NAME, truthVcfPath)
+                .add(SVConcordance.UNSORTED_OUTPUT_LONG_NAME, true);
+
+        runCommandLine(args, SVConcordance.class.getSimpleName());
+        assertPerfectConcordance(output, evalVcfPath);
+    }
 }

From e796d20a9e0c0d311db56beeb58cae9ff03bb6d7 Mon Sep 17 00:00:00 2001
From: epiercehoffman 
Date: Tue, 23 Jan 2024 14:26:41 -0500
Subject: [PATCH 26/64] Rewrite complex SV functional annotation in SVAnnotate
 (#8516)

---
 .../spark/sv/utils/GATKSVVCFConstants.java    |   5 +-
 .../tools/walkers/sv/SVAnnotate.java          |   6 +
 .../tools/walkers/sv/SVAnnotateEngine.java    | 293 +++++++++++++--
 .../hellbender/utils/SimpleInterval.java      |  20 +
 .../walkers/sv/SVAnnotateEngineUnitTest.java  | 345 +++++++++++++++---
 .../walkers/sv/SVAnnotateIntegrationTest.java |   3 +-
 .../utils/SimpleIntervalUnitTest.java         | 110 ++++++
 7 files changed, 698 insertions(+), 84 deletions(-)

diff --git a/src/main/java/org/broadinstitute/hellbender/tools/spark/sv/utils/GATKSVVCFConstants.java b/src/main/java/org/broadinstitute/hellbender/tools/spark/sv/utils/GATKSVVCFConstants.java
index 95bb083f03b..c7586265990 100644
--- a/src/main/java/org/broadinstitute/hellbender/tools/spark/sv/utils/GATKSVVCFConstants.java
+++ b/src/main/java/org/broadinstitute/hellbender/tools/spark/sv/utils/GATKSVVCFConstants.java
@@ -89,7 +89,9 @@ public enum ComplexVariantSubtype {
         piDUP_RF,
         dDUP,
         dDUP_iDEL,
-        INS_iDEL
+        INS_iDEL,
+        CTX_PP_QQ,
+        CTX_PQ_QP
     }
 
     // not defined in output vcf header but used in internal id that is currently output in the ID column
@@ -163,6 +165,7 @@ public enum ComplexVariantSubtype {
     public static final String NONCODING_BREAKPOINT = "PREDICTED_NONCODING_BREAKPOINT";
     public static final String NEAREST_TSS = "PREDICTED_NEAREST_TSS";
     public static final String TSS_DUP = "PREDICTED_TSS_DUP";
+    public static final String PARTIAL_DISPERSED_DUP = "PREDICTED_PARTIAL_DISPERSED_DUP";
 
     // SVTYPE classes
     public enum StructuralVariantAnnotationType {
diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/sv/SVAnnotate.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/sv/SVAnnotate.java
index bd808781c74..9c9e2f11efc 100644
--- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/sv/SVAnnotate.java
+++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/sv/SVAnnotate.java
@@ -123,6 +123,11 @@
  *     duplicated. The partial duplication occurs when a duplication has one breakpoint within the transcript and one
  *     breakpoint after the end of the transcript. When the duplication is in tandem, the result is that there is one
  *     intact copy of the full endogenous gene.
        
+ *     
      • PREDICTED_PARTIAL_DISPERSED_DUP
        
+ *     Gene(s) which are partially overlapped by the duplicated segment involved in an SV's dispersed duplication.
+ *     This annotation is applied to a dispersed (non-tandem) duplication segment that is part of a complex SV if the
+ *     duplicated segment overlaps part of a transcript but not the entire transcript (which would be a
+ *     PREDICTED_COPY_GAIN event).
        • 
  *     
      • PREDICTED_INV_SPAN
        
  *     Gene(s) which are entirely spanned by an SV's inversion. A whole-gene inversion occurs when an inversion spans
  *     the entire transcript, from the first base of the 5' UTR to the last base of the 3' UTR. 
        • 
@@ -354,6 +359,7 @@ private void addAnnotationInfoKeysToHeader(final VCFHeader header) {
         header.addMetaDataLine(new VCFInfoHeaderLine(GATKSVVCFConstants.NONCODING_SPAN, VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.String, "Class(es) of noncoding elements spanned by SV."));
         header.addMetaDataLine(new VCFInfoHeaderLine(GATKSVVCFConstants.NONCODING_BREAKPOINT, VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.String, "Class(es) of noncoding elements disrupted by SV breakpoint."));
         header.addMetaDataLine(new VCFInfoHeaderLine(GATKSVVCFConstants.NEAREST_TSS, VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.String, "Nearest transcription start site to an intergenic variant."));
+        header.addMetaDataLine(new VCFInfoHeaderLine(GATKSVVCFConstants.PARTIAL_DISPERSED_DUP, VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.String, "Gene(s) overlapped partially by the duplicated interval involved in a dispersed duplication event in a complex SV."));
 
     }
 
diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/sv/SVAnnotateEngine.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/sv/SVAnnotateEngine.java
index b82da470e65..7c977602303 100644
--- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/sv/SVAnnotateEngine.java
+++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/sv/SVAnnotateEngine.java
@@ -12,11 +12,13 @@
 import org.broadinstitute.hellbender.utils.SVInterval;
 import org.broadinstitute.hellbender.utils.SVIntervalTree;
 import org.broadinstitute.hellbender.utils.SimpleInterval;
+import org.broadinstitute.hellbender.utils.Utils;
 import org.broadinstitute.hellbender.utils.codecs.gtf.GencodeGtfFeature;
 import org.broadinstitute.hellbender.utils.codecs.gtf.GencodeGtfTranscriptFeature;
 import org.broadinstitute.hellbender.utils.variant.GATKSVVariantContextUtils;
 
 import java.util.*;
+import java.util.stream.Collectors;
 
 public class SVAnnotateEngine {
     private final int maxBreakendLen;
@@ -24,13 +26,37 @@ public class SVAnnotateEngine {
     private final SVIntervalTree nonCodingIntervalTree;
     private final SAMSequenceDictionary sequenceDictionary;
 
-    private final Set MSV_EXON_OVERLAP_CLASSIFICATIONS = Sets.newHashSet(GATKSVVCFConstants.LOF,
+    @VisibleForTesting
+    protected static final Set MSV_EXON_OVERLAP_CLASSIFICATIONS = Sets.newHashSet(GATKSVVCFConstants.LOF,
             GATKSVVCFConstants.INT_EXON_DUP,
             GATKSVVCFConstants.DUP_PARTIAL,
             GATKSVVCFConstants.PARTIAL_EXON_DUP,
             GATKSVVCFConstants.COPY_GAIN,
             GATKSVVCFConstants.TSS_DUP);
 
+    @VisibleForTesting
+    protected static final Set PROTEIN_CODING_CONSEQUENCES = Sets.newHashSet(GATKSVVCFConstants.LOF,
+            GATKSVVCFConstants.INT_EXON_DUP,
+            GATKSVVCFConstants.DUP_PARTIAL,
+            GATKSVVCFConstants.PARTIAL_EXON_DUP,
+            GATKSVVCFConstants.COPY_GAIN,
+            GATKSVVCFConstants.TSS_DUP,
+            GATKSVVCFConstants.INV_SPAN,
+            GATKSVVCFConstants.MSV_EXON_OVERLAP,
+            GATKSVVCFConstants.UTR,
+            GATKSVVCFConstants.INTRONIC,
+            GATKSVVCFConstants.BREAKEND_EXON);
+
+    @VisibleForTesting
+    protected static final Set COMPLEX_SUBTYPES_WITH_DISPERSED_DUP =
+            Sets.newHashSet(GATKSVVCFConstants.ComplexVariantSubtype.dDUP,
+                    GATKSVVCFConstants.ComplexVariantSubtype.dupINV,
+                    GATKSVVCFConstants.ComplexVariantSubtype.INVdup,
+                    GATKSVVCFConstants.ComplexVariantSubtype.dupINVdup,
+                    GATKSVVCFConstants.ComplexVariantSubtype.dupINVdel,
+                    GATKSVVCFConstants.ComplexVariantSubtype.delINVdup,
+                    GATKSVVCFConstants.ComplexVariantSubtype.dDUP_iDEL);
+
     // Mini class to package SV type and interval into one object
     @VisibleForTesting
     protected static final class SVSegment {
@@ -211,14 +237,21 @@ protected static String annotateDeletion(final SimpleInterval variantInterval,
      * Get consequence of duplication variant on transcript
      * @param variantInterval - SimpleInterval representing structural variant
      * @param gtfTranscript - protein-coding GTF transcript
+     * @param isDispersedDuplication - boolean: true if duplication segment is dispersed, false otherwise
      * @return - consequence of duplication variant on transcript
      */
     @VisibleForTesting
     protected static String annotateDuplication(final SimpleInterval variantInterval,
-                                                final GencodeGtfTranscriptFeature gtfTranscript) {
+                                                final GencodeGtfTranscriptFeature gtfTranscript,
+                                                boolean isDispersedDuplication) {
         final SimpleInterval transcriptInterval = new SimpleInterval(gtfTranscript);
         if (variantSpansFeature(variantInterval, transcriptInterval)) {
+            // return COPY_GAIN immediately because same regardless of tandem or dispersed (isDispersedDuplication)
             return GATKSVVCFConstants.COPY_GAIN;
+        } else if (isDispersedDuplication) {
+            // all DUP segments in CPX events are currently dispersed duplications, not tandem. So
+            // if not COPY_GAIN, then partial gene overlap --> if complex, immediate PARTIAL_DISPERSED_DUP
+            return GATKSVVCFConstants.PARTIAL_DISPERSED_DUP;
         } else if (variantOverlapsTranscriptionStartSite(variantInterval, gtfTranscript)) {
             return GATKSVVCFConstants.TSS_DUP;
         } else if (!transcriptInterval.contains(variantInterval)) {
@@ -276,7 +309,7 @@ protected static String annotateDuplication(final SimpleInterval variantInterval
     protected static String annotateCopyNumberVariant(final SimpleInterval variantInterval,
                                                       final GencodeGtfTranscriptFeature gtfTranscript,
                                                       final Set MSVExonOverlapClassifications) {
-        final String consequence = annotateDuplication(variantInterval, gtfTranscript);
+        final String consequence = annotateDuplication(variantInterval, gtfTranscript, false);
         if (MSVExonOverlapClassifications.contains(consequence)) {
             return GATKSVVCFConstants.MSV_EXON_OVERLAP;
         } else {
@@ -338,12 +371,14 @@ protected static String annotateBreakend(final SimpleInterval variantInterval,
      * Add consequence of structural variant on an overlapping transcript to consequence dictionary for variant
      * @param variantInterval - SimpleInterval representing structural variant
      * @param svType - SV type
+     * @param includesDispersedDuplication - boolean: true if SV type contains dispersed duplication(s), false if not
      * @param transcript - protein-coding GTF transcript
      * @param variantConsequenceDict - running map of consequence -> feature name for variant to update
      */
     @VisibleForTesting
     protected void annotateTranscript(final SimpleInterval variantInterval,
                                              final GATKSVVCFConstants.StructuralVariantAnnotationType svType,
+                                             final boolean includesDispersedDuplication,
                                              final GencodeGtfTranscriptFeature transcript,
                                              final Map> variantConsequenceDict) {
         final String consequence;
@@ -355,7 +390,9 @@ protected void annotateTranscript(final SimpleInterval variantInterval,
                 consequence = annotateInsertion(variantInterval, transcript);
                 break;
             case DUP:
-                consequence = annotateDuplication(variantInterval, transcript);
+                // if SV includesDispersedDuplication, every DUP segment in the SV is treated as dispersed
+                // this assumption holds for the complex subtypes currently resolved by GATK-SV
+                consequence = annotateDuplication(variantInterval, transcript, includesDispersedDuplication);
                 break;
             case CNV:
                 consequence = annotateCopyNumberVariant(variantInterval,transcript, MSV_EXON_OVERLAP_CLASSIFICATIONS);
@@ -395,6 +432,7 @@ private void annotatePromoterOverlaps(final SimpleInterval variantInterval,
         for (final Iterator> it = promotersForVariant; it.hasNext(); ) {
             final SVIntervalTree.Entry promoterEntry = it.next();
             final String promoterName = promoterEntry.getValue();
+            // only annotate promoter overlap if there is no coding annotation for the gene
             if (!codingAnnotationGenes.contains(promoterName)) {
                 updateVariantConsequenceDict(variantConsequenceDict, GATKSVVCFConstants.PROMOTER, promoterName);
             }
@@ -477,11 +515,13 @@ protected static GATKSVVCFConstants.StructuralVariantAnnotationType getSVType(fi
      * Add protein-coding annotations for any transcripts overlapping the variant to the variant consequence dictionary
      * @param variantInterval - SimpleInterval representing structural variant
      * @param svType - SV type
+     * @param includesDispersedDuplication - boolean: true if SV type contains dispersed duplication(s), false otherwise
      * @param variantConsequenceDict - running map of consequence -> feature name for variant to update
      */
     @VisibleForTesting
     protected void annotateGeneOverlaps(final SimpleInterval variantInterval,
                                                final GATKSVVCFConstants.StructuralVariantAnnotationType svType,
+                                               final boolean includesDispersedDuplication,
                                                final Map> variantConsequenceDict) {
         final Iterator> gtfTranscriptsForVariant =
                 gtfIntervalTrees.getTranscriptIntervalTree().overlappers(
@@ -489,24 +529,101 @@ protected void annotateGeneOverlaps(final SimpleInterval variantInterval,
                 );
         for (Iterator> it = gtfTranscriptsForVariant; it.hasNext(); ) {
             SVIntervalTree.Entry transcriptEntry = it.next();
-            annotateTranscript(variantInterval, svType, transcriptEntry.getValue(), variantConsequenceDict);
+            annotateTranscript(variantInterval, svType, includesDispersedDuplication, transcriptEntry.getValue(),
+                    variantConsequenceDict);
         }
     }
 
+
+    /**
+     * Parse CPX_INTERVALS field into a list of SV segments.
+     * Format of each item in CPX_INTERVALS is "SVTYPE_CHROM:POS-END"
+     * @param cpxIntervals - list of String elements from CPX_INTERVALS field, each describing one segment of a complex SV
+     * @return - List of SVSegments representing components of the complex SV represented in CPX_INTERVALS
+     */
+    @VisibleForTesting
+    protected static List parseComplexIntervals(final List cpxIntervals) {
+        final List segments = new ArrayList<>(cpxIntervals.size() + 1);
+        for (final String cpxInterval : cpxIntervals) {
+            final String[] parsed = cpxInterval.split("_");
+            final GATKSVVCFConstants.StructuralVariantAnnotationType svTypeForInterval = GATKSVVCFConstants.StructuralVariantAnnotationType.valueOf(parsed[0]);
+            final SimpleInterval interval = new SimpleInterval(parsed[1]);
+            segments.add(new SVSegment(svTypeForInterval, interval));
+        }
+        return segments;
+    }
+
+
     /**
-     * Parse one interval string from CPX_INTERVALS INFO field into an SVSegment representing the SV type and
-     * interval of one of the components of the complex event
-     * @param cpxInterval - one element from CPX_INTERVALS list, a string representing one component of complex SV
-     * @return - SVSegment representing one component of the complex SV (type and interval)
+     * Return modified complex SV intervals list ready for protein-coding annotation.
+     * Start from SV segments from CPX_INTERVALS and ignore or adjust intervals as needed:
+     * (1) Ignore INV segments in dDUP, dDUP_iDEL, and INS_iDEL events because they describe an inversion in the inserted
+     * sequence that has no impact on the source sequence.
+     * (2) Adjust INV segments in dupINV, INVdup, dupINVdup, dupINVdel, and delINVdup events by subtracting the portion
+     * of the interval overlapped by a DUP segment, because that describes an inversion in the duplicated copy that has no
+     * impact on the source sequence.
+     * (3) Ignore INS segment in INS_iDEL if present because it represents the source sequence and the impact on the
+     * source (DUP or DEL) is unknown and cannot be annotated.
+     * @param cpxIntervals - list of SVSegments representing complex SV intervals from CPX_INTERVALS field
+     * @param complexType - Complex SV event type category, from CPX_TYPE field
+     * @return - List of SVSegments representing component of the complex SV (type and interval) to annotate for
+     *      protein-coding consequences
      */
     @VisibleForTesting
-    protected static SVSegment parseCPXIntervalString(final String cpxInterval) {
-        final String[] parsed = cpxInterval.split("_");
-        final GATKSVVCFConstants.StructuralVariantAnnotationType svTypeForInterval = GATKSVVCFConstants.StructuralVariantAnnotationType.valueOf(parsed[0]);
-        final SimpleInterval interval = new SimpleInterval(parsed[1]);
-        return new SVSegment(svTypeForInterval, interval);
+    protected static List getComplexAnnotationIntervals(final List cpxIntervals,
+                                                                   final GATKSVVCFConstants.ComplexVariantSubtype complexType) {
+        final List segments = new ArrayList<>(cpxIntervals.size());
+        final List dupIntervals = new ArrayList<>(cpxIntervals.size());
+        SimpleInterval inversionIntervalToAdjust = null;
+        boolean keepSegment;
+        for (final SVSegment originalSegment : cpxIntervals) {
+            keepSegment = true;
+            if (originalSegment.getIntervalSVType() == GATKSVVCFConstants.StructuralVariantAnnotationType.INV) {
+                // ignore INV segment for dDUP or dDUP_iDEL or INS_iDEL
+                // because it is an inversion of the inserted sequence relative to the origin
+                // but has no impact on the origin site
+                if (complexType == GATKSVVCFConstants.ComplexVariantSubtype.dDUP ||
+                        complexType == GATKSVVCFConstants.ComplexVariantSubtype.dDUP_iDEL ||
+                        complexType == GATKSVVCFConstants.ComplexVariantSubtype.INS_iDEL) {
+                    keepSegment = false;
+                }
+                // save INV interval to adjust later for dupINV / INVdup / dupINVdup / dupINVdel / delINVdup
+                // because INV interval includes duplicated sequence that is inverted relative to origin when re-inserted
+                // but there is no inversion at the origin site for this sequence
+                else if (complexType == GATKSVVCFConstants.ComplexVariantSubtype.dupINV ||
+                        complexType == GATKSVVCFConstants.ComplexVariantSubtype.INVdup ||
+                        complexType == GATKSVVCFConstants.ComplexVariantSubtype.dupINVdup ||
+                        complexType == GATKSVVCFConstants.ComplexVariantSubtype.delINVdup ||
+                        complexType == GATKSVVCFConstants.ComplexVariantSubtype.dupINVdel) {
+                    inversionIntervalToAdjust = originalSegment.getInterval();
+                    keepSegment = false;
+                }
+            } else if (originalSegment.getIntervalSVType() == GATKSVVCFConstants.StructuralVariantAnnotationType.DUP) {
+                dupIntervals.add(originalSegment.getInterval());
+            } else if (originalSegment.getIntervalSVType() == GATKSVVCFConstants.StructuralVariantAnnotationType.INS &&
+                    complexType == GATKSVVCFConstants.ComplexVariantSubtype.INS_iDEL) {
+                // if there is an INS interval in CPX_INTERVALS for INS_iDEL, ignore it
+                // because it represents the origin of the inserted sequence and the status (DUP or DEL) is unknown
+                keepSegment = false;
+            }
+            if (keepSegment) {
+                segments.add(originalSegment);
+            }
+        }
+        // adjust INV interval for dupINV / INVdup / dupINVdup / dupINVdel / delINVdup
+        // to remove portion that overlaps duplicated sequence (not inverted at sequence origin so no impact)
+        // and keep portion that represents sink site breakpoints
+        if (inversionIntervalToAdjust != null) {
+            for (final SimpleInterval dupInterval : dupIntervals) {
+                inversionIntervalToAdjust = inversionIntervalToAdjust.subtract(dupInterval);
+            }
+            segments.add(new SVSegment(GATKSVVCFConstants.StructuralVariantAnnotationType.INV, inversionIntervalToAdjust));
+        }
+
+        return segments;
     }
 
+
     /**
      * Get SV type to use for annotation for a breakend VCF record
      * Breakend may represent BND, CTX, or DEL / DUP if the user specifies {@code SVAnnotate.MAX_BND_LEN_NAME}
@@ -519,11 +636,12 @@ protected static SVSegment parseCPXIntervalString(final String cpxInterval) {
      * @return - SV type to use for annotation of breakend record
      */
     private static GATKSVVCFConstants.StructuralVariantAnnotationType getAnnotationTypeForBreakend(final VariantContext variant,
-                                                                                                   final String complexType,
+                                                                                                   final GATKSVVCFConstants.ComplexVariantSubtype complexType,
                                                                                                    final int maxBreakendLen,
                                                                                                    final int svLen,
                                                                                                    final String chrom, final String chr2) {
-        if (complexType != null && complexType.contains("CTX")) {
+        if (complexType != null && (complexType == GATKSVVCFConstants.ComplexVariantSubtype.CTX_PP_QQ ||
+                complexType == GATKSVVCFConstants.ComplexVariantSubtype.CTX_PQ_QP)) {
             return GATKSVVCFConstants.StructuralVariantAnnotationType.CTX;
         } else if (maxBreakendLen > 0 && chr2 != null && chrom.equals(chr2) && svLen <= maxBreakendLen) {
             // if maxBreakendLenForOverlapAnnotation argument provided, annotate as DUP or DEL if applicable
@@ -554,26 +672,25 @@ private static GATKSVVCFConstants.StructuralVariantAnnotationType getAnnotationT
     @VisibleForTesting
     protected static List getSVSegments(final VariantContext variant,
                                                    final GATKSVVCFConstants.StructuralVariantAnnotationType overallSVType,
-                                                   final int maxBreakendLen) {
+                                                   final int maxBreakendLen,
+                                                   final GATKSVVCFConstants.ComplexVariantSubtype complexType) {
         final List intervals;
-        final String complexType = variant.getAttributeAsString(GATKSVVCFConstants.CPX_TYPE, null);
         final String chrom = variant.getContig();
         final int pos = variant.getStart();
         final String chr2 = variant.getAttributeAsString(GATKSVVCFConstants.CONTIG2_ATTRIBUTE, null);
         final int end2 = variant.getAttributeAsInt(GATKSVVCFConstants.END2_ATTRIBUTE, pos);
         if (overallSVType.equals(GATKSVVCFConstants.StructuralVariantAnnotationType.CPX)) {
-            final List cpxIntervalsString = variant.getAttributeAsStringList(GATKSVVCFConstants.CPX_INTERVALS, null);
-            if (cpxIntervalsString == null) {
+            final List cpxIntervals = variant.getAttributeAsStringList(GATKSVVCFConstants.CPX_INTERVALS, null);
+            if (cpxIntervals.isEmpty()) {
                 throw new UserException("Complex (CPX) variant must contain CPX_INTERVALS INFO field");
             }
             if (complexType == null) {
                 throw new UserException("Complex (CPX) variant must contain CPX_TYPE INFO field");
             }
-            intervals = new ArrayList<>(cpxIntervalsString.size() + 1);
-            for (final String cpxInterval : cpxIntervalsString) {
-                intervals.add(parseCPXIntervalString(cpxInterval));
-            }
-            if (complexType.contains("dDUP")) {
+            intervals = getComplexAnnotationIntervals(parseComplexIntervals(cpxIntervals), complexType);
+            // add sink site as INS for dDUP (encoded in CHROM and POS instead of INFO/CPX_INTERVALS)
+            // no need to add sink site INS for INS_iDEL or dDUP_iDEL because DEL coordinates contain sink site
+            if (complexType == GATKSVVCFConstants.ComplexVariantSubtype.dDUP) {
                 intervals.add(new SVSegment(GATKSVVCFConstants.StructuralVariantAnnotationType.INS,
                         new SimpleInterval(chrom, pos, pos + 1)));
             }
@@ -620,7 +737,62 @@ protected static List getSVSegments(final VariantContext variant,
         return intervals;
     }
 
+    /**
+     * Returns a list of SVSegments to use for promoter & noncoding annotations
+     * For simple (non-complex) SVs, returns original list of segments
+     * For complex SVs, returns a new subsetted list of SVSegments without DUP segments, which are always dispersed
+     * (never tandem) in current set of defined CPX subtypes, and so are not considered for noncoding annotations.
+     * @param svSegments - List of SVSegments used for gene overlap annotations
+     * @return - Subsetted list of SVSegments to use for promoter & noncoding annotations for CPX SVs
+     */
+    @VisibleForTesting
+    protected static List getSegmentsForNonCodingAnnotations(final List svSegments,
+                                                                        final boolean isComplex) {
+        if (isComplex) {
+            return svSegments.stream()
+                    .filter(seg -> seg.getIntervalSVType() != GATKSVVCFConstants.StructuralVariantAnnotationType.DUP)
+                    .collect(Collectors.toList());
+        }
+        else {
+            return svSegments;
+        }
+    }
 
+    /**
+     * Returns a list of SVSegments to use for nearest TSS annotations.
+     * Must apply on the output of getSegmentsForNonCodingAnnotations.
+     * For simple (non-complex) SVs, returns original list of segments.
+     * For complex SVs, merges remaining intervals (DEL, INV) into a single interval for deletion-containing CPX events.
+     * DUP segments are already removed from complex SVs.
+     * @param svSegments - List of SVSegments used for gene overlap annotations
+     * @return - List of SVSegments to use for nearest TSS annotations for CPX SVs
+     */
+    @VisibleForTesting
+    protected static List getSegmentForNearestTSS(final List svSegments,
+                                                             final GATKSVVCFConstants.ComplexVariantSubtype complexType) {
+        // for dDUP_iDEL, INS_iDEL, delINV, INVdel, dupINVdel, delINVdup, delINVdel --> merge all remaining SV segments
+        // which will be INS, DEL, INV types (DUPs already removed)
+        // so that there is only one nearest TSS based on outer breakpoints of CPX event
+        if (complexType != null &&
+                (complexType == GATKSVVCFConstants.ComplexVariantSubtype.INS_iDEL ||
+                complexType == GATKSVVCFConstants.ComplexVariantSubtype.dDUP_iDEL ||
+                complexType == GATKSVVCFConstants.ComplexVariantSubtype.delINV ||
+                complexType == GATKSVVCFConstants.ComplexVariantSubtype.INVdel ||
+                complexType == GATKSVVCFConstants.ComplexVariantSubtype.dupINVdel ||
+                complexType == GATKSVVCFConstants.ComplexVariantSubtype.delINVdup ||
+                complexType == GATKSVVCFConstants.ComplexVariantSubtype.delINVdel)) {
+            SimpleInterval spanningSegment = svSegments.get(0).getInterval();
+            for (int i = 1; i < svSegments.size(); i++) {
+                spanningSegment = spanningSegment.mergeWithContiguous(svSegments.get(i).getInterval());
+            }
+            return Collections.singletonList(new SVSegment(GATKSVVCFConstants.StructuralVariantAnnotationType.DEL,
+                    spanningSegment));
+        } else {
+            // if not complex return original list of segments
+            // if complex & dDUP, dupINV, INVdup, dupINVdup --> no further modifications (already adjusted INV, removed DUPs)
+            return svSegments;
+        }
+    }
 
     /**
      * Create a copy of the variant consequence dictionary in which the feature names for each consequence are sorted
@@ -639,6 +811,39 @@ protected static Map sortVariantConsequenceDict(final Map> variantConsequenceDict,
+                                          final Set proteinCodingConsequences) {
+        for (final String consequence : variantConsequenceDict.keySet()) {
+            if (proteinCodingConsequences.contains(consequence)) {
+                // if the SV has protein-coding consequences other than PARTIAL_DISPERSED_DUP then it is not INTERGENIC
+                return false;
+            }
+        }
+        // if the SV has no protein-coding consequences then it is intergenic
+        return true;
+    }
+
+    /**
+     * Checks if a variant includes one or more dispersed duplications
+     * @param complexType - the complex subtype of the SV
+     * @param complexSubtypesWithDispersedDup - the set of complex subtypes containing one or more dispersed duplications
+     * @return - boolean: true if the SV's complexType is in the set of complexSubtypesWithDispersedDup, false otherwise
+     */
+    @VisibleForTesting
+    protected static boolean includesDispersedDuplication(final GATKSVVCFConstants.ComplexVariantSubtype complexType,
+                                                          final Set complexSubtypesWithDispersedDup) {
+        return complexType != null && complexSubtypesWithDispersedDup.contains(complexType);
+    }
+
     /**
      * Create a consequence -> feature name map and add all annotations for protein-coding, promoter, nearest TSS,
      * and noncoding consequences for a variant
@@ -649,40 +854,58 @@ protected static Map sortVariantConsequenceDict(final Map annotateStructuralVariant(final VariantContext variant) {
         final Map> variantConsequenceDict = new HashMap<>();
         final GATKSVVCFConstants.StructuralVariantAnnotationType overallSVType = getSVType(variant);
-        final List svSegments = getSVSegments(variant, overallSVType, maxBreakendLen);
+        final String complexTypeString = variant.getAttributeAsString(GATKSVVCFConstants.CPX_TYPE, null);
+        GATKSVVCFConstants.ComplexVariantSubtype complexType = null;
+        if (complexTypeString != null) {
+            // replace / in CTX_PP/QQ and CTX_PQ/QP with _ to match ComplexVariantSubtype constants which cannot contain slashes
+            complexType = GATKSVVCFConstants.ComplexVariantSubtype.valueOf(complexTypeString.replace("/", "_"));
+        }
+        final boolean includesDispersedDuplication = includesDispersedDuplication(complexType, COMPLEX_SUBTYPES_WITH_DISPERSED_DUP);
+        final List svSegmentsForGeneOverlaps = getSVSegments(variant, overallSVType, maxBreakendLen, complexType);
+
+        // annotate gene overlaps
         if (gtfIntervalTrees != null && gtfIntervalTrees.getTranscriptIntervalTree() != null) {
-            for (SVSegment svSegment : svSegments) {
-                annotateGeneOverlaps(svSegment.getInterval(), svSegment.getIntervalSVType(), variantConsequenceDict);
+            for (SVSegment svSegment : svSegmentsForGeneOverlaps) {
+                annotateGeneOverlaps(svSegment.getInterval(), svSegment.getIntervalSVType(),
+                        includesDispersedDuplication, variantConsequenceDict);
             }
         }
 
-        // if variant consequence dictionary is empty (no protein-coding annotations), apply INTERGENIC flag
-        final boolean noCodingAnnotations = variantConsequenceDict.isEmpty();
+        // if variant consequence dictionary contains no protein-coding consequences, apply INTERGENIC flag
+        final boolean isIntergenic = isIntergenic(variantConsequenceDict, PROTEIN_CODING_CONSEQUENCES);
+
+        // get SV segments to annotate promoter & noncoding consequences
+        final List svSegmentsForNonCodingAnnotations =
+                getSegmentsForNonCodingAnnotations(svSegmentsForGeneOverlaps, includesDispersedDuplication);
 
         // then annotate promoter overlaps and non-coding feature overlaps
         if (gtfIntervalTrees != null && gtfIntervalTrees.getPromoterIntervalTree() != null) {
-            for (final SVSegment svSegment : svSegments) {
+            for (final SVSegment svSegment : svSegmentsForNonCodingAnnotations) {
                 annotatePromoterOverlaps(svSegment.getInterval(), variantConsequenceDict);
             }
         }
 
         if (nonCodingIntervalTree != null) {
-            for (SVSegment svSegment : svSegments) {
+            for (SVSegment svSegment : svSegmentsForNonCodingAnnotations) {
                 annotateNonCodingOverlaps(svSegment.getInterval(), variantConsequenceDict);
             }
         }
 
+        // get list of SV segments to annotate nearest TSS
+        List svSegmentsForNearestTSS =
+                getSegmentForNearestTSS(svSegmentsForNonCodingAnnotations, complexType);
+
         // annotate nearest TSS for intergenic variants with no promoter overlaps
         if (gtfIntervalTrees != null && gtfIntervalTrees.getTranscriptionStartSiteTree() != null &&
-                !variantConsequenceDict.containsKey(GATKSVVCFConstants.PROMOTER) && noCodingAnnotations) {
-            for (SVSegment svSegment : svSegments) {
+                !variantConsequenceDict.containsKey(GATKSVVCFConstants.PROMOTER) && isIntergenic) {
+            for (SVSegment svSegment : svSegmentsForNearestTSS) {
                 annotateNearestTranscriptionStartSite(svSegment.getInterval(), variantConsequenceDict);
             }
         }
 
         final Map attributes = sortVariantConsequenceDict(variantConsequenceDict);
         if (gtfIntervalTrees != null && gtfIntervalTrees.getTranscriptIntervalTree() != null) {
-            attributes.put(GATKSVVCFConstants.INTERGENIC, noCodingAnnotations);
+            attributes.put(GATKSVVCFConstants.INTERGENIC, isIntergenic);
         }
         return attributes;
     }
diff --git a/src/main/java/org/broadinstitute/hellbender/utils/SimpleInterval.java b/src/main/java/org/broadinstitute/hellbender/utils/SimpleInterval.java
index bade66094bf..ebbce974105 100644
--- a/src/main/java/org/broadinstitute/hellbender/utils/SimpleInterval.java
+++ b/src/main/java/org/broadinstitute/hellbender/utils/SimpleInterval.java
@@ -1,6 +1,7 @@
  package org.broadinstitute.hellbender.utils;
 
 
+import com.google.common.annotations.VisibleForTesting;
 import htsjdk.samtools.SAMSequenceDictionary;
 import htsjdk.samtools.SAMSequenceRecord;
 import htsjdk.samtools.util.Locatable;
@@ -275,6 +276,25 @@ public SimpleInterval intersect( final Locatable that ) {
                  Math.min( getEnd(), that.getEnd()) );
      }
 
+     /**
+      * Get section of starting interval (this) that is not overlapped by the other interval (that)
+      * @param that - interval to subtract from starting interval. Must overlap (but not fully contain) starting interval
+      * @return - SimpleInterval representing the portion of starting interval (this) not overlapped by other interval (that)
+      */
+     @VisibleForTesting
+     public SimpleInterval subtract(final Locatable that) {
+         Utils.validateArg(this.overlaps(that), () ->
+                 "SimpleIntervaL::subtract(): The two intervals need to overlap: " + this + ", " + that);
+         Utils.validateArg(!that.contains(this), () ->
+                 "SimpleIntervaL::subtract(): Interval to subtract " + that + " cannot contain starting interval " + this);
+         if (this.getStart() < that.getStart()) {
+             return new SimpleInterval(this.getContig(), this.getStart(), that.getStart());
+         }
+         else {
+             return new SimpleInterval(this.getContig(), that.getEnd(), this.getEnd());
+         }
+     }
+
      /**
       * Returns a new SimpleInterval that represents the entire span of this and that.  Requires that
       * this and that SimpleInterval are contiguous.
diff --git a/src/test/java/org/broadinstitute/hellbender/tools/walkers/sv/SVAnnotateEngineUnitTest.java b/src/test/java/org/broadinstitute/hellbender/tools/walkers/sv/SVAnnotateEngineUnitTest.java
index 867e0222221..80f8312ff0c 100644
--- a/src/test/java/org/broadinstitute/hellbender/tools/walkers/sv/SVAnnotateEngineUnitTest.java
+++ b/src/test/java/org/broadinstitute/hellbender/tools/walkers/sv/SVAnnotateEngineUnitTest.java
@@ -25,12 +25,6 @@
 public class SVAnnotateEngineUnitTest extends GATKBaseTest {
     private final File TOY_GTF_FILE = new File(getToolTestDataDir().replaceFirst("Engine", "") + "unittest.gtf");
     private final File TINY_NONCODING_BED_FILE = new File(getToolTestDataDir().replaceFirst("Engine", "") + "noncoding.unittest.bed");
-    private final Set MSV_EXON_OVERLAP_CLASSIFICATIONS = Sets.newHashSet(GATKSVVCFConstants.LOF,
-            GATKSVVCFConstants.INT_EXON_DUP,
-            GATKSVVCFConstants.DUP_PARTIAL,
-            GATKSVVCFConstants.PARTIAL_EXON_DUP,
-            GATKSVVCFConstants.COPY_GAIN,
-            GATKSVVCFConstants.TSS_DUP);
 
 
     // Pairs of intervals with different relationships to check if first (variant) interval spans second (feature)
@@ -175,14 +169,15 @@ public void testAnnotateIntervalSVTypes(
     ) {
         final GencodeGtfTranscriptFeature toyTranscript = loadToyGtfTranscript();
 
-        final String actualDuplicationConsequence = SVAnnotateEngine.annotateDuplication(toyVariant, toyTranscript);
+        final String actualDuplicationConsequence = SVAnnotateEngine.annotateDuplication(toyVariant, toyTranscript, false);
         Assert.assertEquals(actualDuplicationConsequence, expectedDuplicationConsequence);
 
         final String actualDeletionConsequence = SVAnnotateEngine.annotateDeletion(toyVariant, toyTranscript);
         Assert.assertEquals(actualDeletionConsequence, expectedDeletionConsequence);
 
         final String actualCopyNumberVariantConsequence =
-                SVAnnotateEngine.annotateCopyNumberVariant(toyVariant, toyTranscript, MSV_EXON_OVERLAP_CLASSIFICATIONS);
+                SVAnnotateEngine.annotateCopyNumberVariant(toyVariant, toyTranscript,
+                        SVAnnotateEngine.MSV_EXON_OVERLAP_CLASSIFICATIONS);
         Assert.assertEquals(actualCopyNumberVariantConsequence, expectedCopyNumberVariantConsequence);
 
         final String actualInversionConsequence = SVAnnotateEngine.annotateInversion(toyVariant, toyTranscript);
@@ -244,21 +239,143 @@ public void testAnnotatePointSVTypes(
         Assert.assertEquals(actualTwoBaseTranslocationConsequence, expectedTranslocationVariantConsequence);
     }
 
+    /**
+     * Create list of SV segments with SAME SVTYPE - convenience function for testing getSVSegments
+     * @param svType - SV type for all segments
+     * @param intervals - list of intervals
+     * @return - list of SV segments with provided SV type, one for each interval
+     */
+    private List createListOfSVSegments(final GATKSVVCFConstants.StructuralVariantAnnotationType svType,
+                                                                    final SimpleInterval[] intervals) {
+        final List segments = new ArrayList<>(intervals.length);
+        for (final SimpleInterval interval : intervals) {
+            segments.add(new SVAnnotateEngine.SVSegment(svType, interval));
+        }
+        return segments;
+    }
+
+    /**
+     * Create list of SV segments with different SVTYPEs - convenience function
+     * @param svTypes - list of SV types
+     * @param intervals - list of intervals
+     * @return - list of SV segments
+     */
+    private List createListOfSVSegmentsDifferentTypes(final GATKSVVCFConstants.StructuralVariantAnnotationType[] svTypes,
+                                                                                  final SimpleInterval[] intervals) {
+        Assert.assertEquals(svTypes.length, intervals.length);
+        final List segments = new ArrayList<>(intervals.length);
+        for (int i = 0; i < svTypes.length; i++) {
+            segments.add(new SVAnnotateEngine.SVSegment(svTypes[i], intervals[i]));
+        }
+        return segments;
+    }
+
+    // CPX_TYPE & CPX_INTERVALS INFO fields specifying complex variant intervals, and expected SV segments
+    @DataProvider(name = "complexVariantIntervals")
+    public Object[][] getComplexVariantIntervalsTestData() {
+        return new Object[][] {
+                { GATKSVVCFConstants.ComplexVariantSubtype.dDUP, "DUP_chr1:280-420",
+                        createListOfSVSegmentsDifferentTypes(new GATKSVVCFConstants.StructuralVariantAnnotationType[]{
+                                GATKSVVCFConstants.StructuralVariantAnnotationType.DUP },
+                                new SimpleInterval[]{new SimpleInterval("chr1", 280, 420)}) },
+                { GATKSVVCFConstants.ComplexVariantSubtype.dupINV, "DUP_chr1:44355904-44356327,INV_chr1:44355904-44357498",
+                        createListOfSVSegmentsDifferentTypes(new GATKSVVCFConstants.StructuralVariantAnnotationType[]{
+                                GATKSVVCFConstants.StructuralVariantAnnotationType.DUP,
+                                        GATKSVVCFConstants.StructuralVariantAnnotationType.INV},
+                        new SimpleInterval[]{new SimpleInterval("chr1", 44355904, 44356327),
+                                new SimpleInterval("chr1", 44356327, 44357498)}) },
+                { GATKSVVCFConstants.ComplexVariantSubtype.dupINVdup, "DUP_chr1:247660974-248129213,INV_chr1:247660974-248587216,DUP_chr1:248520217-248587216",
+                        createListOfSVSegmentsDifferentTypes(new GATKSVVCFConstants.StructuralVariantAnnotationType[]{
+                                GATKSVVCFConstants.StructuralVariantAnnotationType.DUP,
+                                        GATKSVVCFConstants.StructuralVariantAnnotationType.DUP,
+                                        GATKSVVCFConstants.StructuralVariantAnnotationType.INV},
+                        new SimpleInterval[]{new SimpleInterval("chr1", 247660974, 248129213),
+                                new SimpleInterval("chr1", 248520217, 248587216),
+                                new SimpleInterval("chr1", 248129213, 248520217)}) },
+                { GATKSVVCFConstants.ComplexVariantSubtype.dDUP_iDEL, "DUP_chr2:131488885-131489335,INV_chr2:131488885-131489335,DEL_chr2:130185450-130185720",
+                        createListOfSVSegmentsDifferentTypes(new GATKSVVCFConstants.StructuralVariantAnnotationType[]{
+                                GATKSVVCFConstants.StructuralVariantAnnotationType.DUP,
+                                GATKSVVCFConstants.StructuralVariantAnnotationType.DEL},
+                        new SimpleInterval[]{new SimpleInterval("chr2", 131488885,131489335),
+                                new SimpleInterval("chr2", 130185450,130185720)}) },
+                { GATKSVVCFConstants.ComplexVariantSubtype.dDUP_iDEL, "DUP_chr3:95751919-95752156,DEL_chr3:95746923-95749272",
+                        createListOfSVSegmentsDifferentTypes(new GATKSVVCFConstants.StructuralVariantAnnotationType[]{
+                                GATKSVVCFConstants.StructuralVariantAnnotationType.DUP,
+                                GATKSVVCFConstants.StructuralVariantAnnotationType.DEL},
+                        new SimpleInterval[]{new SimpleInterval("chr3", 95751919,95752156),
+                                new SimpleInterval("chr3", 95746923,95749272)}) },
+                { GATKSVVCFConstants.ComplexVariantSubtype.INS_iDEL, "DEL_chr3:60521333-60521483",
+                        createListOfSVSegmentsDifferentTypes(new GATKSVVCFConstants.StructuralVariantAnnotationType[]{
+                                GATKSVVCFConstants.StructuralVariantAnnotationType.DEL},
+                        new SimpleInterval[]{new SimpleInterval("chr3", 60521333,60521483)}) },
+                { GATKSVVCFConstants.ComplexVariantSubtype.delINV, "DEL_chr2:120379742-120383130,INV_chr2:120383130-120384123",
+                        createListOfSVSegmentsDifferentTypes(new GATKSVVCFConstants.StructuralVariantAnnotationType[]{
+                                GATKSVVCFConstants.StructuralVariantAnnotationType.DEL,
+                                GATKSVVCFConstants.StructuralVariantAnnotationType.INV},
+                        new SimpleInterval[]{new SimpleInterval("chr2", 120379742,120383130),
+                                new SimpleInterval("chr2", 120383130,120384123)}) },
+                { GATKSVVCFConstants.ComplexVariantSubtype.INVdel, "INV_chr2:122719025-122719803,DEL_chr2:122719803-122724929",
+                        createListOfSVSegmentsDifferentTypes(new GATKSVVCFConstants.StructuralVariantAnnotationType[]{
+                                GATKSVVCFConstants.StructuralVariantAnnotationType.INV,
+                                GATKSVVCFConstants.StructuralVariantAnnotationType.DEL},
+                        new SimpleInterval[]{new SimpleInterval("chr2", 122719025,122719803),
+                                new SimpleInterval("chr2", 122719803,122724929)}) },
+                { GATKSVVCFConstants.ComplexVariantSubtype.delINVdup, "DEL_chr2:54002577-54003019,INV_chr2:54003019-54006204,DUP_chr2:54006057-54006204",
+                        createListOfSVSegmentsDifferentTypes(new GATKSVVCFConstants.StructuralVariantAnnotationType[]{
+                                GATKSVVCFConstants.StructuralVariantAnnotationType.DEL,
+                                GATKSVVCFConstants.StructuralVariantAnnotationType.DUP,
+                                        GATKSVVCFConstants.StructuralVariantAnnotationType.INV},
+                        new SimpleInterval[]{new SimpleInterval("chr2", 54002577,54003019),
+                                new SimpleInterval("chr2", 54006057,54006204),
+                                new SimpleInterval("chr2", 54003019,54006057)}) },
+                { GATKSVVCFConstants.ComplexVariantSubtype.dupINVdel, "DUP_chr2:4157678-4157846,INV_chr2:4157678-4165085,DEL_chr2:4165085-4175888",
+                        createListOfSVSegmentsDifferentTypes(new GATKSVVCFConstants.StructuralVariantAnnotationType[]{
+                                GATKSVVCFConstants.StructuralVariantAnnotationType.DUP,
+                                GATKSVVCFConstants.StructuralVariantAnnotationType.DEL,
+                                GATKSVVCFConstants.StructuralVariantAnnotationType.INV},
+                        new SimpleInterval[]{new SimpleInterval("chr2", 4157678,4157846),
+                                new SimpleInterval("chr2", 4165085,4175888),
+                                new SimpleInterval("chr2", 4157846,4165085)}) },
+                { GATKSVVCFConstants.ComplexVariantSubtype.delINVdel, "DEL_chr2:62384663-62387814,INV_chr2:62387814-62388322,DEL_chr2:62388322-62390272",
+                        createListOfSVSegmentsDifferentTypes(new GATKSVVCFConstants.StructuralVariantAnnotationType[]{
+                                GATKSVVCFConstants.StructuralVariantAnnotationType.DEL,
+                                GATKSVVCFConstants.StructuralVariantAnnotationType.INV,
+                                GATKSVVCFConstants.StructuralVariantAnnotationType.DEL},
+                        new SimpleInterval[]{new SimpleInterval("chr2", 62384663,62387814),
+                                new SimpleInterval("chr2", 62387814,62388322),
+                                new SimpleInterval("chr2", 62388322,62390272)}) }
+        };
+    }
+
+    // Test getComplexAnnotationIntervals()
+    @Test(dataProvider = "complexVariantIntervals")
+    public void testGetSegmentsFromComplexIntervals(
+            final GATKSVVCFConstants.ComplexVariantSubtype complexType,
+            final String cpxIntervalsString,
+            final List expectedSVSegments
+    ) {
+        final List cpxIntervals = SVAnnotateEngine.parseComplexIntervals(Arrays.asList(cpxIntervalsString.split(",")));
+        final List actualSegments = SVAnnotateEngine.getComplexAnnotationIntervals(cpxIntervals,
+                complexType);
+        assertSegmentListEqual(actualSegments, expectedSVSegments);
+    }
+
     // CPX_INTERVALS INFO field string specifying complex variant intervals, and expected annotation(s)
     @DataProvider(name = "toyComplexVariants")
     public Object[][] getToyComplexVariantTestData() {
         return new Object[][] {
-                { "DUP_chr1:280-420", Sets.newHashSet(GATKSVVCFConstants.INT_EXON_DUP) },
-                { "INV_chr1:90-1010,DUP_chr1:890-1010",
-                        Sets.newHashSet(GATKSVVCFConstants.INV_SPAN, GATKSVVCFConstants.DUP_PARTIAL) },
-                { "DEL_chr1:250-450,INV_chr1:450-650,DUP_chr1:610-650",
-                        Sets.newHashSet(GATKSVVCFConstants.LOF, GATKSVVCFConstants.INTRONIC) }
+                { GATKSVVCFConstants.ComplexVariantSubtype.dDUP, "DUP_chr1:280-420", Sets.newHashSet(GATKSVVCFConstants.PARTIAL_DISPERSED_DUP) },
+                { GATKSVVCFConstants.ComplexVariantSubtype.INVdup, "INV_chr1:90-1010,DUP_chr1:890-1010",
+                        Sets.newHashSet(GATKSVVCFConstants.LOF, GATKSVVCFConstants.PARTIAL_DISPERSED_DUP) },
+                { GATKSVVCFConstants.ComplexVariantSubtype.delINVdup, "DEL_chr1:250-450,INV_chr1:450-650,DUP_chr1:610-650",
+                        Sets.newHashSet(GATKSVVCFConstants.LOF, GATKSVVCFConstants.PARTIAL_DISPERSED_DUP) }
         };
     }
 
-    // Test annotation of CPX events from CPX_INTERVALS string
+    // Test annotation of CPX events for gene overlaps from CPX_INTERVALS string
     @Test(dataProvider = "toyComplexVariants")
     public void testAnnotateComplexEvents(
+            final GATKSVVCFConstants.ComplexVariantSubtype complexType,
             final String cpxIntervalsString,
             final Set expectedConsequences
     ) {
@@ -272,28 +389,36 @@ public void testAnnotateComplexEvents(
         SVAnnotateEngine svAnnotateEngine = new SVAnnotateEngine(gtfTrees, null, sequenceDictionary,
                 -1);
 
-        final String[] cpxIntervalStrings = cpxIntervalsString.split(",");
-        for (String cpxIntervalString : cpxIntervalStrings) {
-            SVAnnotateEngine.SVSegment cpxSegment = SVAnnotateEngine.parseCPXIntervalString(cpxIntervalString);
-            svAnnotateEngine.annotateGeneOverlaps(cpxSegment.getInterval(), cpxSegment.getIntervalSVType(),
+        final List cpxIntervals = SVAnnotateEngine.parseComplexIntervals(Arrays.asList(cpxIntervalsString.split(",")));
+        final List cpxSegments = SVAnnotateEngine.getComplexAnnotationIntervals(cpxIntervals, complexType);
+        for (final SVAnnotateEngine.SVSegment cpxSegment: cpxSegments) {
+            svAnnotateEngine.annotateGeneOverlaps(cpxSegment.getInterval(), cpxSegment.getIntervalSVType(), true,
                     variantConsequenceDict);
         }
 
         Assert.assertEquals(variantConsequenceDict.keySet(), expectedConsequences);
     }
 
+    private Map> createVariantConsequenceDict(final String[] consequences,
+                                                                  final String[] features) {
+        Assert.assertEquals(consequences.length, features.length);
+        final Map> map = new HashMap<>();
+        for (int i = 0; i < consequences.length; i++) {
+            SVAnnotateEngine.updateVariantConsequenceDict(map, consequences[i], features[i]);
+        }
+        return map;
+    }
+
 
     // Test sortVariantConsequenceDict() sorts lists of genes in variant consequence map
     @Test
     public void testSortVariantConsequenceDict() {
-        final Map> before = new HashMap<>();
-        SVAnnotateEngine.updateVariantConsequenceDict(before, GATKSVVCFConstants.LOF, "NOC2L");
-        SVAnnotateEngine.updateVariantConsequenceDict(before, GATKSVVCFConstants.LOF, "KLHL17");
-        SVAnnotateEngine.updateVariantConsequenceDict(before, GATKSVVCFConstants.LOF, "PLEKHN1");
-        SVAnnotateEngine.updateVariantConsequenceDict(before, GATKSVVCFConstants.LOF, "PERM1");
-        SVAnnotateEngine.updateVariantConsequenceDict(before, GATKSVVCFConstants.DUP_PARTIAL, "SAMD11");
-        SVAnnotateEngine.updateVariantConsequenceDict(before, GATKSVVCFConstants.LOF, "HES4");
-        SVAnnotateEngine.updateVariantConsequenceDict(before, GATKSVVCFConstants.TSS_DUP, "ISG15");
+        final Map> before = createVariantConsequenceDict(
+                new String[]{GATKSVVCFConstants.LOF, GATKSVVCFConstants.LOF, GATKSVVCFConstants.LOF,
+                        GATKSVVCFConstants.LOF, GATKSVVCFConstants.DUP_PARTIAL, GATKSVVCFConstants.LOF,
+                        GATKSVVCFConstants.TSS_DUP},
+                new String[]{"NOC2L", "KLHL17", "PLEKHN1", "PERM1", "SAMD11", "HES4", "ISG15"}
+        );
 
         final Map expectedAfter = new HashMap<>();
         expectedAfter.put(GATKSVVCFConstants.DUP_PARTIAL, Arrays.asList("SAMD11"));
@@ -303,22 +428,74 @@ public void testSortVariantConsequenceDict() {
         Assert.assertEquals(SVAnnotateEngine.sortVariantConsequenceDict(before), expectedAfter);
     }
 
+    @DataProvider(name = "proteinCodingConsequences")
+    public Object[][] getProteinCodingConsequences() {
+        return new Object[][] {
+                // protein-coding consequence -> not intergenic
+                { createVariantConsequenceDict(
+                        new String[]{GATKSVVCFConstants.TSS_DUP, GATKSVVCFConstants.PARTIAL_DISPERSED_DUP},
+                        new String[]{"HES4", "SAMD11"}),
+                        false
+                },
+                // partial dispersed dup does not count towards protein-coding consequences for this
+                { createVariantConsequenceDict(
+                        new String[]{GATKSVVCFConstants.PARTIAL_DISPERSED_DUP},
+                        new String[]{"SAMD11"}),
+                        true
+                },
+                // ignore noncoding consequences
+                { createVariantConsequenceDict(
+                        new String[]{GATKSVVCFConstants.NONCODING_BREAKPOINT, GATKSVVCFConstants.PROMOTER},
+                        new String[]{"Enhancer", "RP1"}),
+                        true
+                },
+                { new HashMap<>(),
+                        true
+                }
+        };
+    }
 
-    /**
-     * Create list of SV segments with SAME SVTYPE - convenience function for testing getSVSegments
-     * @param svType - SV type for all segments
-     * @param intervals - list of intervals
-     * @return - list of SV segments with provided SV type, one for each interval
-     */
-    private List createListOfSVSegments(final GATKSVVCFConstants.StructuralVariantAnnotationType svType,
-                                                                    final SimpleInterval[] intervals) {
-        final List segments = new ArrayList<>(intervals.length);
-        for (final SimpleInterval interval : intervals) {
-            segments.add(new SVAnnotateEngine.SVSegment(svType, interval));
-        }
-        return segments;
+    @Test(dataProvider = "proteinCodingConsequences")
+    public void testIsIntergenic(
+            final Map> variantConsequenceDict,
+            final boolean expectedIsIntergenic
+    ){
+        final boolean actualIsIntergenic = SVAnnotateEngine.isIntergenic(variantConsequenceDict,
+                SVAnnotateEngine.PROTEIN_CODING_CONSEQUENCES);
+        Assert.assertEquals(actualIsIntergenic, expectedIsIntergenic);
+    }
+
+    @DataProvider(name = "complexSubtypes")
+    public Object[][] getComplexSubtypes() {
+        return new Object[][] {
+                { null, false },
+                { GATKSVVCFConstants.ComplexVariantSubtype.delINV, false },
+                { GATKSVVCFConstants.ComplexVariantSubtype.INVdel, false },
+                { GATKSVVCFConstants.ComplexVariantSubtype.dupINV, true },
+                { GATKSVVCFConstants.ComplexVariantSubtype.INVdup, true },
+                { GATKSVVCFConstants.ComplexVariantSubtype.delINVdel, false },
+                { GATKSVVCFConstants.ComplexVariantSubtype.dupINVdup, true },
+                { GATKSVVCFConstants.ComplexVariantSubtype.delINVdup, true },
+                { GATKSVVCFConstants.ComplexVariantSubtype.dupINVdel, true },
+                { GATKSVVCFConstants.ComplexVariantSubtype.dDUP, true },
+                { GATKSVVCFConstants.ComplexVariantSubtype.dDUP_iDEL, true },
+                { GATKSVVCFConstants.ComplexVariantSubtype.INS_iDEL, false },
+                { GATKSVVCFConstants.ComplexVariantSubtype.CTX_PP_QQ, false },
+                { GATKSVVCFConstants.ComplexVariantSubtype.CTX_PQ_QP, false }
+        };
     }
 
+    @Test(dataProvider = "complexSubtypes")
+    public void testIncludesDispersedDuplication(
+            final GATKSVVCFConstants.ComplexVariantSubtype complexType,
+            final boolean expectedIncludesDispersedDuplication
+    ){
+        final boolean actualIncludesDispersedDuplication = SVAnnotateEngine.includesDispersedDuplication(complexType,
+                SVAnnotateEngine.COMPLEX_SUBTYPES_WITH_DISPERSED_DUP);
+        Assert.assertEquals(actualIncludesDispersedDuplication, expectedIncludesDispersedDuplication);
+    }
+
+
     /**
      * Assert two lists of SVAnnotate.SVSegment objects are equal in contents
      * Lists must be same size and contain equal SVSegments in the same order
@@ -384,6 +561,7 @@ public Object[][] getSVTypesAndSegmentsTestData() {
         return new Object[][] {
                 { createVariantContext("chr2", 86263976, 86263977, "chr19", 424309, "N",
                         "", null, null, "CTX_PP/QQ", null),
+                        GATKSVVCFConstants.ComplexVariantSubtype.CTX_PP_QQ,
                         GATKSVVCFConstants.StructuralVariantAnnotationType.CTX,
                         createListOfSVSegments(GATKSVVCFConstants.StructuralVariantAnnotationType.CTX,
                                 new SimpleInterval[]{ new SimpleInterval("chr2", 86263976, 86263977),
@@ -391,66 +569,77 @@ public Object[][] getSVTypesAndSegmentsTestData() {
                         null },
                 { createVariantContext("chr2", 86263976, 86263976, null, 424309, "G",
                         "G]chr19:424309]", null, null,"CTX_PP/QQ", null),
+                        GATKSVVCFConstants.ComplexVariantSubtype.CTX_PP_QQ,
                         GATKSVVCFConstants.StructuralVariantAnnotationType.BND,
                         Arrays.asList(new SVAnnotateEngine.SVSegment(GATKSVVCFConstants.StructuralVariantAnnotationType.CTX,
                                 new SimpleInterval("chr2", 86263976, 86263976))),
                         null},
                 { createVariantContext("chr2", 86263977, 86263977, null, 424309, "A",
                         "[chr19:424310[A", null, null, "CTX_PP/QQ", null),
+                        GATKSVVCFConstants.ComplexVariantSubtype.CTX_PP_QQ,
                         GATKSVVCFConstants.StructuralVariantAnnotationType.BND,
                         Arrays.asList(new SVAnnotateEngine.SVSegment(GATKSVVCFConstants.StructuralVariantAnnotationType.CTX,
                                 new SimpleInterval("chr2", 86263977, 86263977))),
                         null },
                 { createVariantContext("chr2", 205522308, 205522384, "chr2", null, "N",
                         "", 76, null, null, null),
+                        null,
                         GATKSVVCFConstants.StructuralVariantAnnotationType.INV,
                         Arrays.asList(new SVAnnotateEngine.SVSegment(GATKSVVCFConstants.StructuralVariantAnnotationType.INV,
                                 new SimpleInterval("chr2", 205522308, 205522384))),
                         null },
                 { createVariantContext("chr19", 424309, 424309, null, 424309, "T",
                         "T]chr2:86263976]", null, null, "CTX_PP/QQ", null),
+                        GATKSVVCFConstants.ComplexVariantSubtype.CTX_PP_QQ,
                         GATKSVVCFConstants.StructuralVariantAnnotationType.BND,
                         Arrays.asList(new SVAnnotateEngine.SVSegment(GATKSVVCFConstants.StructuralVariantAnnotationType.CTX,
                                 new SimpleInterval("chr19", 424309, 424309))),
                         null },
                 { createVariantContext("chr19", 424310, 424310, null, 424309, "C",
                         "[chr2:86263977[C", null, null, "CTX_PP/QQ", null),
+                        GATKSVVCFConstants.ComplexVariantSubtype.CTX_PP_QQ,
                         GATKSVVCFConstants.StructuralVariantAnnotationType.BND,
                         Arrays.asList(new SVAnnotateEngine.SVSegment(GATKSVVCFConstants.StructuralVariantAnnotationType.CTX,
                                 new SimpleInterval("chr19", 424310, 424310))),
                         null },
                 { createVariantContext("chr22", 10510000, 10694100, "chr22", null, "N",
                         "", 184100, null, null, null),
+                        null,
                         GATKSVVCFConstants.StructuralVariantAnnotationType.DEL,
                         createListOfSVSegments(GATKSVVCFConstants.StructuralVariantAnnotationType.DEL,
                                 new SimpleInterval[]{ new SimpleInterval("chr22", 10510000, 10694100)}),
                         null},
                 { createVariantContext("chr22", 10510000, 10694100, "chr22", null, "N",
                         "", 184100, null, null, null),
+                        null,
                         GATKSVVCFConstants.StructuralVariantAnnotationType.DEL,
                         createListOfSVSegments(GATKSVVCFConstants.StructuralVariantAnnotationType.DEL,
                                 new SimpleInterval[]{ new SimpleInterval("chr22", 10510000, 10694100)}),
                         null},
                 { createVariantContext("chr22", 10524000, 10710000, "chr22", null, "N",
                         "", 186000, null, null, null),
+                        null,
                         GATKSVVCFConstants.StructuralVariantAnnotationType.DUP,
                         createListOfSVSegments(GATKSVVCFConstants.StructuralVariantAnnotationType.DUP,
                                 new SimpleInterval[]{ new SimpleInterval("chr22", 10524000, 10710000)}),
                         null },
                 { createVariantContext("chr22", 10532563, 10532611, "chr22", null, "N",
                         "", 245, null, null, null),
+                        null,
                         GATKSVVCFConstants.StructuralVariantAnnotationType.INS,
                         createListOfSVSegments(GATKSVVCFConstants.StructuralVariantAnnotationType.INS,
                                 new SimpleInterval[]{ new SimpleInterval("chr22", 10532563, 10532564)}),
                         null },
                 { createVariantContext("chr22", 10572758, 10572788, "chr22", null, "N",
                         "", 57, null, null, null),
+                        null,
                         GATKSVVCFConstants.StructuralVariantAnnotationType.INS,
                         createListOfSVSegments(GATKSVVCFConstants.StructuralVariantAnnotationType.INS,
                                 new SimpleInterval[]{ new SimpleInterval("chr22", 10572758, 10572759)}),
                         null },
                 { createVariantContext("chr22", 10717890, 10717890, "chr22", null, "N",
                         "", 5170, "-+", null, null),
+                        null,
                         GATKSVVCFConstants.StructuralVariantAnnotationType.BND,
                         createListOfSVSegments(GATKSVVCFConstants.StructuralVariantAnnotationType.BND,
                                 new SimpleInterval[]{ new SimpleInterval("chr22", 10717890, 10717890),
@@ -459,12 +648,14 @@ public Object[][] getSVTypesAndSegmentsTestData() {
                                 new SimpleInterval[]{ new SimpleInterval("chr22", 10717890, 10723060)}) },
                 { createVariantContext("chr22", 10774600, 10784500, "chr22", null, "N",
                         "", 9900, null, null, null),
+                        null,
                         GATKSVVCFConstants.StructuralVariantAnnotationType.CNV,
                         createListOfSVSegments(GATKSVVCFConstants.StructuralVariantAnnotationType.CNV,
                                 new SimpleInterval[]{ new SimpleInterval("chr22", 10774600, 10784500)}),
                         null },
                 { createVariantContext("chr22", 10930458, 10930458, "chr22", 11564561, "N",
                         "", 634103, "--", null, null),
+                        null,
                         GATKSVVCFConstants.StructuralVariantAnnotationType.BND,
                         createListOfSVSegments(GATKSVVCFConstants.StructuralVariantAnnotationType.BND,
                                 new SimpleInterval[]{ new SimpleInterval("chr22", 10930458, 10930458),
@@ -472,6 +663,7 @@ public Object[][] getSVTypesAndSegmentsTestData() {
                         null },
                 { createVariantContext("chr22", 17636024, 17636024, "chr22", null, "N",
                         "", 10709, "+-", null, null),
+                        null,
                         GATKSVVCFConstants.StructuralVariantAnnotationType.BND,
                         createListOfSVSegments(GATKSVVCFConstants.StructuralVariantAnnotationType.BND,
                                 new SimpleInterval[]{ new SimpleInterval("chr22", 17636024, 17636024),
@@ -481,10 +673,9 @@ public Object[][] getSVTypesAndSegmentsTestData() {
                 { createVariantContext("chr22", 18971159, 18971435, "chr22", null, "N",
                         "", 386, null, "dDUP",
                         Arrays.asList("INV_chr22:20267228-20267614","DUP_chr22:20267228-20267614")),
+                        GATKSVVCFConstants.ComplexVariantSubtype.dDUP,
                         GATKSVVCFConstants.StructuralVariantAnnotationType.CPX,
                         Arrays.asList(
-                                new SVAnnotateEngine.SVSegment(GATKSVVCFConstants.StructuralVariantAnnotationType.INV,
-                                        new SimpleInterval("chr22", 20267228, 20267614)),
                                 new SVAnnotateEngine.SVSegment(GATKSVVCFConstants.StructuralVariantAnnotationType.DUP,
                                         new SimpleInterval("chr22", 20267228, 20267614)),
                                 new SVAnnotateEngine.SVSegment(GATKSVVCFConstants.StructuralVariantAnnotationType.INS,
@@ -492,6 +683,7 @@ public Object[][] getSVTypesAndSegmentsTestData() {
                         null },
                 { createVariantContext("chr22", 22120897, 22120897, "chrX", 126356858, "N",
                         "", -1, "++", null, null),
+                        null,
                         GATKSVVCFConstants.StructuralVariantAnnotationType.BND,
                         createListOfSVSegments(GATKSVVCFConstants.StructuralVariantAnnotationType.BND,
                                 new SimpleInterval[]{ new SimpleInterval("chr22", 22120897, 22120897),
@@ -499,6 +691,7 @@ public Object[][] getSVTypesAndSegmentsTestData() {
                         null },
                 { createVariantContext("chr22", 22196261, 22196261, "chr22", null, "N",
                         "", 708725, "+-", null, null),
+                        null,
                         GATKSVVCFConstants.StructuralVariantAnnotationType.BND,
                         createListOfSVSegments(GATKSVVCFConstants.StructuralVariantAnnotationType.BND,
                                 new SimpleInterval[]{ new SimpleInterval("chr22", 22196261, 22196261),
@@ -506,12 +699,14 @@ public Object[][] getSVTypesAndSegmentsTestData() {
                         null },
                 { createVariantContext("chr22", 22196261, 22196261, null, null, "A",
                         "A[chr22:22904986[", null, "+-", null, null),
+                        null,
                         GATKSVVCFConstants.StructuralVariantAnnotationType.BND,
                         createListOfSVSegments(GATKSVVCFConstants.StructuralVariantAnnotationType.BND,
                                 new SimpleInterval[]{ new SimpleInterval("chr22", 22196261, 22196261) }),
                         null },
                 { createVariantContext("chr22", 22904986, 22904986, null, null, "T",
                         "]chr22:22196261]T", null, "+-", null, null),
+                        null,
                         GATKSVVCFConstants.StructuralVariantAnnotationType.BND,
                         createListOfSVSegments(GATKSVVCFConstants.StructuralVariantAnnotationType.BND,
                                 new SimpleInterval[]{ new SimpleInterval("chr22", 22904986, 22904986) }),
@@ -519,12 +714,13 @@ public Object[][] getSVTypesAndSegmentsTestData() {
                 { createVariantContext("chr22", 36533058, 36538234, "chr22", null, "N",
                         "", 5176, null, "dupINV",
                         Arrays.asList("DUP_chr22:36533058-36533299","INV_chr22:36533058-36538234")),
+                        GATKSVVCFConstants.ComplexVariantSubtype.dupINV,
                         GATKSVVCFConstants.StructuralVariantAnnotationType.CPX,
                         Arrays.asList(
                                 new SVAnnotateEngine.SVSegment(GATKSVVCFConstants.StructuralVariantAnnotationType.DUP,
                                         new SimpleInterval("chr22", 36533058, 36533299)),
                                 new SVAnnotateEngine.SVSegment(GATKSVVCFConstants.StructuralVariantAnnotationType.INV,
-                                        new SimpleInterval("chr22", 36533058, 36538234))),
+                                        new SimpleInterval("chr22", 36533299, 36538234))),
                         null }
         };
     }
@@ -533,6 +729,7 @@ public Object[][] getSVTypesAndSegmentsTestData() {
     @Test(dataProvider = "typesAndSegments")
     public void testGetSVTypeAndSegments(
             final VariantContext variant,
+            final GATKSVVCFConstants.ComplexVariantSubtype complexType,
             final GATKSVVCFConstants.StructuralVariantAnnotationType expectedSVType,
             final List expectedSVSegments,
             final List expectedSVSegmentsWithBNDOverlap
@@ -541,11 +738,11 @@ public void testGetSVTypeAndSegments(
         Assert.assertEquals(actualSVType, expectedSVType);
 
         final List actualSegments = SVAnnotateEngine.getSVSegments(variant,
-                actualSVType, -1);
+                actualSVType, -1, complexType);
         assertSegmentListEqual(actualSegments, expectedSVSegments);
 
         final List actualSegmentsWithBNDOverlap = SVAnnotateEngine.getSVSegments(variant,
-                actualSVType, 15000);
+                actualSVType, 15000, complexType);
         assertSegmentListEqual(actualSegmentsWithBNDOverlap,
                 expectedSVSegmentsWithBNDOverlap != null ? expectedSVSegmentsWithBNDOverlap : expectedSVSegments);
     }
@@ -581,6 +778,62 @@ public Object[][] getAnnotateStructuralVariantTestData() {
                         createAttributesMap(
                                 Arrays.asList(GATKSVVCFConstants.PROMOTER, GATKSVVCFConstants.INTERGENIC),
                                 Arrays.asList("EMMA1", true)) },
+                // CPX with dDUP CG and promoter annotations
+                { createVariantContext("chr1", 10, 11, null, null, null,
+                        "", 1500, null, "dDUP",
+                        Collections.singletonList("DUP_chr1:2000-3500")),
+                        createAttributesMap(
+                                Arrays.asList(GATKSVVCFConstants.PROMOTER, GATKSVVCFConstants.COPY_GAIN,
+                                        GATKSVVCFConstants.INTERGENIC),
+                                Arrays.asList("EMMA1", "EMMA2", false)) },
+                // dupINVdup with CG
+                { createVariantContext("chr1", 20, 3500, null, null, null,
+                        "", 3480, null, "dupINVdup",
+                        Arrays.asList("DUP_chr1:20-70", "INV_chr1:20-3500", "DUP_chr1:2000-3500")),
+                        createAttributesMap(
+                                Arrays.asList(GATKSVVCFConstants.INV_SPAN, GATKSVVCFConstants.COPY_GAIN,
+                                        GATKSVVCFConstants.NONCODING_SPAN, GATKSVVCFConstants.INTERGENIC),
+                                Arrays.asList("EMMA1", "EMMA2", Arrays.asList("DNase", "Enhancer"), false)) },
+                // ignore INV for dDUP; ignore dDUP for promoter; CPX noncoding span; CPX intergenic
+                { createVariantContext("chr1", 1101, 1102, null, null, null,
+                        "", 700, null, "dDUP_iDEL",
+                        Arrays.asList("DUP_chr1:10-60", "INV_chr1:10-60","DEL_chr1:1100-1700")),
+                        createAttributesMap(
+                                Arrays.asList(GATKSVVCFConstants.NONCODING_SPAN, GATKSVVCFConstants.NEAREST_TSS,
+                                        GATKSVVCFConstants.INTERGENIC),
+                                Arrays.asList("Enhancer", "EMMA1", true)) },
+                // Ignore INV and source INS in CPX_INTERVALS for INS_iDEL
+                { createVariantContext("chr1", 1101, 1102, null, null, null,
+                        "", 700, null, "INS_iDEL",
+                        Arrays.asList("INV_chr1:10-60","DEL_chr1:1100-1700","INS_chr1:10-60")),
+                        createAttributesMap(
+                                Arrays.asList(GATKSVVCFConstants.NONCODING_SPAN, GATKSVVCFConstants.NEAREST_TSS,
+                                        GATKSVVCFConstants.INTERGENIC),
+                                Arrays.asList("Enhancer", "EMMA1", true)) },
+                // no noncoding breakpoint for DUP segment of CPX; modify INV interval; multiple genes for a consequence
+                { createVariantContext("chr1", 450, 3100, null, null, null,
+                        "", 2650, null, "dupINV",
+                        Arrays.asList("DUP_chr1:450-2200", "INV_chr1:450-3100")),
+                        createAttributesMap(
+                                Arrays.asList(GATKSVVCFConstants.PARTIAL_DISPERSED_DUP, GATKSVVCFConstants.LOF,
+                                        GATKSVVCFConstants.INTERGENIC),
+                                Arrays.asList(Arrays.asList("EMMA1", "EMMA2"), "EMMA2", false)) },
+                // intergenic with partial dispersed dup
+                { createVariantContext("chr1", 1100, 1100, null, null, null,
+                        "", 550, null, "dDUP",
+                        Arrays.asList("DUP_chr1:450-1000")),
+                        createAttributesMap(
+                                Arrays.asList(GATKSVVCFConstants.PARTIAL_DISPERSED_DUP, GATKSVVCFConstants.NEAREST_TSS,
+                                        GATKSVVCFConstants.INTERGENIC),
+                                Arrays.asList("EMMA1", "EMMA1", true)) },
+                // merge INV + DEL for nearest TSS; noncoding breakpoint for CPX
+                { createVariantContext("chr1", 1400, 1900, null, null, null,
+                        "", 500, null, "delINV",
+                        Arrays.asList("DEL_chr1:1400-1500", "INV_chr1:1500-1900")),
+                        createAttributesMap(
+                                Arrays.asList(GATKSVVCFConstants.NONCODING_BREAKPOINT, GATKSVVCFConstants.NEAREST_TSS,
+                                        GATKSVVCFConstants.INTERGENIC),
+                                Arrays.asList("Enhancer", "EMMA2", true)) },
                 { createVariantContext("chr1", 50, 450, null, null, null,
                         "", 400, null, null, null),
                         createAttributesMap(
@@ -650,6 +903,4 @@ public void testAnnotateStructuralVariant(
 
         Assert.assertEquals(actualAttributes, expectedAttributes);
     }
-
-
-}
\ No newline at end of file
+}
diff --git a/src/test/java/org/broadinstitute/hellbender/tools/walkers/sv/SVAnnotateIntegrationTest.java b/src/test/java/org/broadinstitute/hellbender/tools/walkers/sv/SVAnnotateIntegrationTest.java
index b9c30729acc..f647a4afb37 100644
--- a/src/test/java/org/broadinstitute/hellbender/tools/walkers/sv/SVAnnotateIntegrationTest.java
+++ b/src/test/java/org/broadinstitute/hellbender/tools/walkers/sv/SVAnnotateIntegrationTest.java
@@ -28,7 +28,8 @@ public class SVAnnotateIntegrationTest extends CommandLineProgramTest {
             GATKSVVCFConstants.INV_SPAN, GATKSVVCFConstants.PROMOTER, GATKSVVCFConstants.COPY_GAIN,
             GATKSVVCFConstants.INTERGENIC, GATKSVVCFConstants.NEAREST_TSS, GATKSVVCFConstants.INT_EXON_DUP,
             GATKSVVCFConstants.PARTIAL_EXON_DUP, GATKSVVCFConstants.MSV_EXON_OVERLAP, GATKSVVCFConstants.UTR,
-            GATKSVVCFConstants.INTRONIC, GATKSVVCFConstants.TSS_DUP, GATKSVVCFConstants.BREAKEND_EXON);
+            GATKSVVCFConstants.INTRONIC, GATKSVVCFConstants.TSS_DUP, GATKSVVCFConstants.BREAKEND_EXON,
+            GATKSVVCFConstants.PARTIAL_DISPERSED_DUP);
 
     private void assertVariantAnnotatedAsExpected(final List vcf, final String variantID,
                                                   Map expectedAnnotations) {
diff --git a/src/test/java/org/broadinstitute/hellbender/utils/SimpleIntervalUnitTest.java b/src/test/java/org/broadinstitute/hellbender/utils/SimpleIntervalUnitTest.java
index e230f6c5375..4cc892dd931 100644
--- a/src/test/java/org/broadinstitute/hellbender/utils/SimpleIntervalUnitTest.java
+++ b/src/test/java/org/broadinstitute/hellbender/utils/SimpleIntervalUnitTest.java
@@ -260,6 +260,116 @@ public void testContains( final SimpleInterval firstInterval, final SimpleInterv
                             "contains() returned incorrect result for intervals " + firstInterval + " and " + secondInterval);
     }
 
+    @DataProvider(name = "subtractIntervalData")
+    private Object[][] subtractIntervalData() {
+        return new Object[][] {
+                { new SimpleInterval("chr1", 10, 30),
+                        new SimpleInterval("chr1", 20, 40),
+                        new SimpleInterval("chr1", 10, 20) },
+                { new SimpleInterval("chr1", 10, 30),
+                        new SimpleInterval("chr1", 5, 15),
+                        new SimpleInterval("chr1", 15, 30) },
+                { new SimpleInterval("chr1", 10, 30),
+                        new SimpleInterval("chr1", 10, 20),
+                        new SimpleInterval("chr1", 20, 30) },
+                { new SimpleInterval("chr1", 10, 30),
+                        new SimpleInterval("chr1", 20, 30),
+                        new SimpleInterval("chr1", 10, 20) }
+        };
+    }
+
+    @Test(dataProvider = "subtractIntervalData")
+    public void testSubtractInterval( final SimpleInterval firstInterval,
+                                      final SimpleInterval secondInterval,
+                                      final SimpleInterval expectedResult ) {
+        Assert.assertEquals(firstInterval.subtract(secondInterval), expectedResult);
+    }
+
+    @DataProvider(name = "subtractIntervalDataExpectingException")
+    private Object[][] subtractIntervalDataExpectingException() {
+        return new Object[][] {
+                // different contigs
+                { new SimpleInterval("chr1", 10, 30),
+                        new SimpleInterval("chr2", 20, 40) },
+                // non-overlapping intervals on same contig
+                { new SimpleInterval("chr1", 10, 30),
+                        new SimpleInterval("chr1", 50, 150) },
+                // second interval contains first
+                { new SimpleInterval("chr1", 10, 30),
+                        new SimpleInterval("chr1", 10, 40) }
+        };
+    }
+    @Test(dataProvider = "subtractIntervalDataExpectingException", expectedExceptions = IllegalArgumentException.class)
+    public void testSubtractIntervalExpectingException( final SimpleInterval firstInterval,
+                                                        final SimpleInterval secondInterval) {
+        firstInterval.subtract(secondInterval);
+    }
+
+    @DataProvider(name = "mergeWithContiguousData")
+    private Object[][] mergeWithContiguousData() {
+        return new Object[][] {
+                // first is upstream, overlapping
+                { new SimpleInterval("chr1", 10, 30),
+                        new SimpleInterval("chr1", 20, 40),
+                        new SimpleInterval("chr1", 10, 40) },
+                // first is downstream, overlapping
+                { new SimpleInterval("chr1", 10, 30),
+                        new SimpleInterval("chr1", 5, 15),
+                        new SimpleInterval("chr1", 5, 30) },
+                // first contains second
+                { new SimpleInterval("chr1", 10, 30),
+                        new SimpleInterval("chr1", 15, 20),
+                        new SimpleInterval("chr1", 10, 30) },
+                // second contains first
+                { new SimpleInterval("chr1", 20, 30),
+                        new SimpleInterval("chr1", 10, 30),
+                        new SimpleInterval("chr1", 10, 30) },
+                // first is upstream, overlapping by 1
+                { new SimpleInterval("chr1", 10, 30),
+                        new SimpleInterval("chr1", 30, 50),
+                        new SimpleInterval("chr1", 10, 50) },
+                // first is upstream, adjacent
+                { new SimpleInterval("chr1", 10, 30),
+                        new SimpleInterval("chr1", 31, 50),
+                        new SimpleInterval("chr1", 10, 50) },
+                // first is downstream, overlapping by 1
+                { new SimpleInterval("chr1", 40, 60),
+                        new SimpleInterval("chr1", 30, 40),
+                        new SimpleInterval("chr1", 30, 60) },
+                // first is downstream, adjacent
+                { new SimpleInterval("chr1", 40, 60),
+                        new SimpleInterval("chr1", 30, 39),
+                        new SimpleInterval("chr1", 30, 60) }
+        };
+    }
+
+    @Test(dataProvider = "mergeWithContiguousData")
+    public void testMergeWithContiguous( final SimpleInterval firstInterval,
+                                      final SimpleInterval secondInterval,
+                                      final SimpleInterval expectedResult ) {
+        Assert.assertEquals(firstInterval.mergeWithContiguous(secondInterval), expectedResult);
+    }
+
+    @DataProvider(name = "mergeWithContiguousDataExpectingException")
+    private Object[][] mergeWithContiguousDataExpectingException() {
+        return new Object[][] {
+                // different contigs
+                { new SimpleInterval("chr1", 10, 30),
+                        new SimpleInterval("chr2", 20, 40) },
+                // non-contiguous intervals on same contig, first is upstream
+                { new SimpleInterval("chr1", 10, 30),
+                        new SimpleInterval("chr1", 50, 150) },
+                // non-contiguous intervals on same contig, first is downstream
+                { new SimpleInterval("chr1", 20, 30),
+                        new SimpleInterval("chr1", 5, 15) }
+        };
+    }
+    @Test(dataProvider = "mergeWithContiguousDataExpectingException", expectedExceptions = GATKException.class)
+    public void testMergeWithContiguousExpectingException( final SimpleInterval firstInterval,
+                                                        final SimpleInterval secondInterval) {
+        firstInterval.mergeWithContiguous(secondInterval);
+    }
+
     @Test(expectedExceptions = IllegalArgumentException.class)
     public void testNoNullInConstruction() throws Exception {
         new SimpleInterval((String)null);

From 2d50cf8b334f1e781f00ac1dae683355fee1fe99 Mon Sep 17 00:00:00 2001
From: David Benjamin 
Date: Fri, 26 Jan 2024 13:57:18 -0500
Subject: [PATCH 27/64] Improvements to Mutect2's Permutect training data mode
 (#8663)

* include normal seq error log likelihood in Permutect dataset

* handle different alelle representations in multiallelic / indel variants for Permutect training data mode

* set the default artifact to non-artifact ratio to 1 in Permutect training data mode
---
 .../FeaturizedReadSets.java                   | 134 +++++++-----------
 .../walkers/mutect/M2ArgumentCollection.java  |  22 ++-
 .../walkers/mutect/Mutect3DatasetEngine.java  |  53 ++++---
 .../mutect/SomaticGenotypingEngine.java       |   2 +-
 4 files changed, 104 insertions(+), 107 deletions(-)
 rename src/main/java/org/broadinstitute/hellbender/tools/walkers/{annotator => mutect}/FeaturizedReadSets.java (53%)

diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/FeaturizedReadSets.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/mutect/FeaturizedReadSets.java
similarity index 53%
rename from src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/FeaturizedReadSets.java
rename to src/main/java/org/broadinstitute/hellbender/tools/walkers/mutect/FeaturizedReadSets.java
index c2a37a5a31d..6a4d3f5c06a 100644
--- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/FeaturizedReadSets.java
+++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/mutect/FeaturizedReadSets.java
@@ -1,26 +1,22 @@
-package org.broadinstitute.hellbender.tools.walkers.annotator;
+package org.broadinstitute.hellbender.tools.walkers.mutect;
 
 
 import htsjdk.variant.variantcontext.Allele;
-import htsjdk.variant.variantcontext.Genotype;
-import htsjdk.variant.variantcontext.GenotypeBuilder;
 import htsjdk.variant.variantcontext.VariantContext;
-import org.apache.commons.lang3.StringUtils;
-import org.broadinstitute.barclay.help.DocumentedFeature;
+import org.apache.logging.log4j.LogManager;
+import org.apache.logging.log4j.Logger;
 import org.broadinstitute.gatk.nativebindings.smithwaterman.SWOverhangStrategy;
-import org.broadinstitute.hellbender.engine.FeatureContext;
-import org.broadinstitute.hellbender.engine.ReferenceContext;
+import org.broadinstitute.hellbender.tools.walkers.annotator.BaseQuality;
+import org.broadinstitute.hellbender.tools.walkers.annotator.ReadPosition;
 import org.broadinstitute.hellbender.utils.Utils;
 import org.broadinstitute.hellbender.utils.genotyper.AlleleLikelihoods;
 import org.broadinstitute.hellbender.utils.haplotype.Haplotype;
-import org.broadinstitute.hellbender.utils.help.HelpConstants;
 import org.broadinstitute.hellbender.utils.read.AlignmentUtils;
 import org.broadinstitute.hellbender.utils.read.Fragment;
 import org.broadinstitute.hellbender.utils.read.GATKRead;
 import org.broadinstitute.hellbender.utils.smithwaterman.SmithWatermanAligner;
 import org.broadinstitute.hellbender.utils.smithwaterman.SmithWatermanAlignment;
 import org.broadinstitute.hellbender.utils.smithwaterman.SmithWatermanAlignmentConstants;
-import org.broadinstitute.hellbender.utils.variant.GATKVCFConstants;
 
 import java.util.*;
 import java.util.stream.Collectors;
@@ -31,69 +27,23 @@
  * [1,2] and [3,4] and allele 2 has featurized reads [5,6] and [7,8], the annotation is
  * 1,2,3,4|5,6,7,8
  */
-@DocumentedFeature(groupName= HelpConstants.DOC_CAT_ANNOTATORS, groupSummary=HelpConstants.DOC_CAT_ANNOTATORS_SUMMARY,
-        summary="Featurized read sets for Mutect3 training data")
-public class FeaturizedReadSets implements JumboGenotypeAnnotation {
-    public static final int DEFAULT_BASE_QUALITY = 25;
-
-    private static final int DEFAULT_MAX_REF_COUNT = Integer.MAX_VALUE;
+public class FeaturizedReadSets {
+    private static final Logger logger = LogManager.getLogger(FeaturizedReadSets.class);
 
-    public static final int FEATURES_PER_READ = 11;
+    public static final int DEFAULT_BASE_QUALITY = 25;
 
     private static final SmithWatermanAligner aligner = SmithWatermanAligner.getAligner(SmithWatermanAligner.Implementation.JAVA);
 
-    // downsample ref reads to this count if needed
-    private final int maxRefCount;
-
-    public FeaturizedReadSets(final int maxRefCount) {
-        this.maxRefCount = maxRefCount;
-    }
-
-    public FeaturizedReadSets() {
-        this(DEFAULT_MAX_REF_COUNT);
-    }
-
-    @Override
-    public void annotate(final ReferenceContext ref,
-                         final FeatureContext features,
-                         final VariantContext vc,
-                         final Genotype g,
-                         final GenotypeBuilder gb,
-                         final AlleleLikelihoods likelihoods,
-                         final AlleleLikelihoods fragmentLikelihoods,
-                         final AlleleLikelihoods haplotypeLikelihoods) {
-        Utils.nonNull(vc);
-        Utils.nonNull(g);
-        Utils.nonNull(gb);
-
-        if ( likelihoods == null) {
-            return;
-        }
-
-        final List>> readVectorsByAllele = getReadVectors(vc, Collections.singletonList(g.getSampleName()),
-                likelihoods, haplotypeLikelihoods, maxRefCount, Integer.MAX_VALUE);
-
-        // flatten twice: over all reads supporting each allele and over all alleles
-        // we can partition by allele with the countsInAlleleOrder annotation
-        // and by read using the constant feature vector size
-        final int[] flattenedTensorInAlleleOrder = readVectorsByAllele.stream()
-                .flatMap(listOfLists -> listOfLists.stream().flatMap(List::stream))
-                .mapToInt(n -> n)
-                .toArray();
-
-        final int[] countsInAlleleOrder = readVectorsByAllele.stream().mapToInt(List::size).toArray();
-
-        gb.attribute(GATKVCFConstants.FEATURIZED_READ_SETS_KEY, flattenedTensorInAlleleOrder);
-        gb.attribute(GATKVCFConstants.FEATURIZED_READ_SETS_COUNTS_KEY, countsInAlleleOrder);
-    }
+    private FeaturizedReadSets() { }
 
     public static List>> getReadVectors(final VariantContext vc,
                                                            final Collection samples,
                                                            final AlleleLikelihoods likelihoods,
                                                            final AlleleLikelihoods haplotypeLikelihoods,
                                                            final int refDownsample,
-                                                           final int altDownsample) {
-        return getReadVectors(vc, samples, likelihoods, haplotypeLikelihoods, refDownsample, altDownsample, Collections.emptyMap());
+                                                           final int altDownsample,
+                                                           final M2ArgumentCollection.Mutect3DatasetMode mutect3DatasetMode) {
+        return getReadVectors(vc, samples, likelihoods, haplotypeLikelihoods, refDownsample, altDownsample, Collections.emptyMap(), mutect3DatasetMode);
     }
 
     // returns Lists (in allele order) of lists of read vectors supporting each allele
@@ -103,7 +53,8 @@ public static List>> getReadVectors(final VariantContext vc,
                                                            final AlleleLikelihoods haplotypeLikelihoods,
                                                            final int refDownsample,
                                                            final int altDownsample,
-                                                           final Map altDownsampleMap) {
+                                                           final Map altDownsampleMap,
+                                                           final M2ArgumentCollection.Mutect3DatasetMode mutect3DatasetMode) {
         final Map> readsByAllele = likelihoods.alleles().stream()
                 .collect(Collectors.toMap(a -> a, a -> new ArrayList<>()));
 
@@ -126,17 +77,14 @@ public static List>> getReadVectors(final VariantContext vc,
                 .forEach(ba -> ba.evidence.getReads().forEach(read -> bestHaplotypes.put(read, ba.allele)));
 
         return vc.getAlleles().stream()
-                .map(allele -> readsByAllele.get(allele).stream().map(read -> featurize(read, vc, bestHaplotypes)).collect(Collectors.toList()))
+                .map(allele -> readsByAllele.get(allele).stream().map(read -> featurize(read, vc, bestHaplotypes, mutect3DatasetMode)).collect(Collectors.toList()))
                 .collect(Collectors.toList());
     }
 
 
-    @Override
-    public List getKeyNames() {
-        return Arrays.asList(GATKVCFConstants.FEATURIZED_READ_SETS_KEY, GATKVCFConstants.FEATURIZED_READ_SETS_COUNTS_KEY);
-    }
-
-    private static List featurize(final GATKRead read, final VariantContext vc, final Map bestHaplotypes) {
+    private static List featurize(final GATKRead read, final VariantContext vc,
+                                           final Map bestHaplotypes,
+                                           final M2ArgumentCollection.Mutect3DatasetMode mutect3DatasetMode) {
         final List result = new ArrayList<>();
         result.add(read.getMappingQuality());
         result.add(BaseQuality.getBaseQuality(read, vc).orElse(DEFAULT_BASE_QUALITY));
@@ -151,23 +99,41 @@ private static List featurize(final GATKRead read, final VariantContext
 
         result.add(Math.abs(read.getFragmentLength()));
 
-        // distances from ends of fragment
-        final int fragmentStart = Math.min(read.getMateStart(), read.getUnclippedStart());
-        final int fragmentEnd = fragmentStart + Math.abs(read.getFragmentLength());
-        result.add(vc.getStart() - fragmentStart);
-        result.add(fragmentEnd - vc.getEnd());
+        if (mutect3DatasetMode == M2ArgumentCollection.Mutect3DatasetMode.ILLUMINA) {
+            // distances from ends of fragment
+            final int fragmentStart = Math.min(read.getMateStart(), read.getUnclippedStart());
+            final int fragmentEnd = fragmentStart + Math.abs(read.getFragmentLength());
+            result.add(vc.getStart() - fragmentStart);
+            result.add(fragmentEnd - vc.getEnd());
+        }
+
+        // Ultima-specific read tags
+        if (mutect3DatasetMode == M2ArgumentCollection.Mutect3DatasetMode.ULTIMA) {
+            result.add(read.getAttributeAsInteger("si"));   // si is an integer on the order of 100s or 1000s
+            result.add((int) (1000*read.getAttributeAsFloat("rq")));    // rq is a float from 0 and 1, so we multiply by 1000 and round
+        }
 
         // mismatches versus best haplotype
         final Haplotype haplotype = bestHaplotypes.get(read);
-        final SmithWatermanAlignment readToHaplotypeAlignment = aligner.align(haplotype.getBases(), read.getBases(), SmithWatermanAlignmentConstants.ALIGNMENT_TO_BEST_HAPLOTYPE_SW_PARAMETERS, SWOverhangStrategy.SOFTCLIP);
-        final GATKRead copy = read.copy();
-        copy.setCigar(readToHaplotypeAlignment.getCigar());
-        final int mismatchCount = AlignmentUtils.getMismatchCount(copy, haplotype.getBases(), readToHaplotypeAlignment.getAlignmentOffset()).numMismatches;
-        result.add(mismatchCount);
-
-        final long indelsVsBestHaplotype = readToHaplotypeAlignment.getCigar().getCigarElements().stream().filter(el -> el.getOperator().isIndel()).count();
-        result.add((int) indelsVsBestHaplotype);
-        Utils.validate(result.size() == FEATURES_PER_READ, "Wrong number of features");
+
+        // TODO: fix this
+        // I have no idea why this edge case occurs in Ultima data and maybe sometimes in Illumina
+        if (!bestHaplotypes.containsKey(read)) {
+            logger.warn(String.format("Best haplotypes don't contain read %s at position %s:%d.", read.getName(),
+                    vc.getContig(), vc.getStart()));
+            result.add(3);
+            result.add(2);
+        } else {
+            final SmithWatermanAlignment readToHaplotypeAlignment = aligner.align(haplotype.getBases(), read.getBases(), SmithWatermanAlignmentConstants.ALIGNMENT_TO_BEST_HAPLOTYPE_SW_PARAMETERS, SWOverhangStrategy.SOFTCLIP);
+            final GATKRead copy = read.copy();
+            copy.setCigar(readToHaplotypeAlignment.getCigar());
+            final int mismatchCount = AlignmentUtils.getMismatchCount(copy, haplotype.getBases(), readToHaplotypeAlignment.getAlignmentOffset()).numMismatches;
+            result.add(mismatchCount);
+
+            final long indelsVsBestHaplotype = readToHaplotypeAlignment.getCigar().getCigarElements().stream().filter(el -> el.getOperator().isIndel()).count();
+            result.add((int) indelsVsBestHaplotype);
+        }
+        Utils.validate(result.size() == mutect3DatasetMode.getNumReadFeatures(), "Wrong number of features");
 
         return result;
     }
diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/mutect/M2ArgumentCollection.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/mutect/M2ArgumentCollection.java
index d25c7a33fc5..0087441ae1a 100644
--- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/mutect/M2ArgumentCollection.java
+++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/mutect/M2ArgumentCollection.java
@@ -81,10 +81,11 @@ public class M2ArgumentCollection extends AssemblyBasedCallerArgumentCollection
     public static final String MUTECT3_ALT_DOWNSAMPLE_LONG_NAME = "mutect3-alt-downsample";
     public static final String MUTECT3_DATASET_LONG_NAME = "mutect3-dataset";
     public static final String MUTECT3_TRAINING_TRUTH_LONG_NAME = "mutect3-training-truth";
+    public static final String MUTECT3_DATASET_MODE_LONG_NAME = "mutect3-dataset-mode";
 
     public static final int DEFAULT_MUTECT3_REF_DOWNSAMPLE = 10;
     public static final int DEFAULT_MUTECT3_ALT_DOWNSAMPLE = 20;
-    public static final int DEFAULT_MUTECT3_NON_ARTIFACT_RATIO = 20;
+    public static final int DEFAULT_MUTECT3_NON_ARTIFACT_RATIO = 1;
 
     @Override
     protected int getDefaultMaxMnpDistance() { return 1; }
@@ -205,6 +206,25 @@ public double getDefaultAlleleFrequency() {
     @Argument(fullName = MUTECT3_DATASET_LONG_NAME, optional = true, doc="Destination for Mutect3 data collection")
     public File mutect3Dataset;
 
+    @Advanced
+    @Argument(fullName = MUTECT3_DATASET_MODE_LONG_NAME, optional = true, doc="The type of Mutect3 dataset.  Depends on sequencing technology.")
+    public Mutect3DatasetMode mutect3DatasetMode = Mutect3DatasetMode.ILLUMINA;
+
+    public enum Mutect3DatasetMode {
+        ILLUMINA(11),
+        ULTIMA(11);
+
+        final private int numReadFeatures;
+
+        Mutect3DatasetMode(final int numReadFeatures) {
+            this.numReadFeatures = numReadFeatures;
+        }
+
+        public int getNumReadFeatures() {
+            return numReadFeatures;
+        }
+    }
+
     /**
      * VCF of known calls for a sample used for generating a Mutect3 training dataset.  Unfiltered variants (PASS or empty FILTER field)
      * contained in this VCF are considered good; other variants (i.e. filtered in this VCF or absent from it) are considered errors.
diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/mutect/Mutect3DatasetEngine.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/mutect/Mutect3DatasetEngine.java
index e6a080cd14f..942c2de15b2 100644
--- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/mutect/Mutect3DatasetEngine.java
+++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/mutect/Mutect3DatasetEngine.java
@@ -4,18 +4,15 @@
 import htsjdk.variant.variantcontext.Genotype;
 import htsjdk.variant.variantcontext.VariantContext;
 import org.apache.commons.lang3.tuple.Triple;
-import org.apache.commons.math3.util.CombinatoricsUtils;
 import org.apache.commons.math3.util.FastMath;
-import org.broadinstitute.hellbender.engine.FeatureContext;
 import org.broadinstitute.hellbender.engine.ReferenceContext;
 import org.broadinstitute.hellbender.exceptions.UserException;
+import org.broadinstitute.hellbender.tools.walkers.ReferenceConfidenceVariantContextMerger;
 import org.broadinstitute.hellbender.tools.walkers.annotator.AssemblyComplexity;
-import org.broadinstitute.hellbender.tools.walkers.annotator.FeaturizedReadSets;
 import org.broadinstitute.hellbender.tools.walkers.annotator.ReferenceBases;
 import org.broadinstitute.hellbender.tools.walkers.mutect.filtering.Mutect2FilteringEngine;
 import org.broadinstitute.hellbender.utils.IndexRange;
 import org.broadinstitute.hellbender.utils.MathUtils;
-import org.broadinstitute.hellbender.utils.NaturalLogUtils;
 import org.broadinstitute.hellbender.utils.Utils;
 import org.broadinstitute.hellbender.utils.genotyper.AlleleLikelihoods;
 import org.broadinstitute.hellbender.utils.genotyper.LikelihoodMatrix;
@@ -46,9 +43,6 @@ private enum Label {
         ARTIFACT, VARIANT, UNLABELED, IGNORE
     }
 
-    // number of features for each vectorized read
-    private static final int FEATURES_PER_READ = FeaturizedReadSets.FEATURES_PER_READ;
-
     // number of additional variant features for assembly complexity, reference context
     private static final int NUM_EXTRA_FEATURES = 9;
 
@@ -108,7 +102,8 @@ public Mutect3DatasetEngine(final File datasetFile, final boolean trainingMode,
     public void addData(final ReferenceContext ref, final VariantContext vc, Optional> truthVCs,
                         final AlleleLikelihoods likelihoods,
                         final AlleleLikelihoods logFragmentLikelihoods,
-                        final AlleleLikelihoods logFragmentAlleleLikelihoods) {
+                        final AlleleLikelihoods logFragmentAlleleLikelihoods,
+                        final M2ArgumentCollection.Mutect3DatasetMode mutect3DatasetMode) {
         final String refBases = ReferenceBases.annotate(ref, vc);
         final String refAllele = vc.getReference().getBaseString();
         final String contig = vc.getContig();
@@ -132,6 +127,20 @@ public void addData(final ReferenceContext ref, final VariantContext vc, Optiona
         final int normalDepth = (int) MathUtils.sum(normalADs);
         final boolean hasNormal = normalDepth > 0;
 
+        final List allRefAlleles = new ArrayList<>();
+        allRefAlleles.add(vc.getReference());
+        truthVCs.ifPresent(vcs -> vcs.forEach(var -> allRefAlleles.add(var.getReference())));
+        final Allele longestRef = allRefAlleles.stream().sorted(Comparator.comparingInt(Allele::length).reversed()).findFirst().get();
+
+        // skip(1) excludes the reference allele
+        final List remappedAltAlleles = ReferenceConfidenceVariantContextMerger.remapAlleles(vc, longestRef).stream()
+                .skip(1).toList();
+
+        final Set truthAlleles = !truthVCs.isPresent() ? Collections.emptySet() : truthVCs.get().stream()
+                .filter(truthVC -> ! truthVC.isFiltered())
+                .flatMap(truthVC -> ReferenceConfidenceVariantContextMerger.remapAlleles(truthVC, longestRef).stream())
+                .collect(Collectors.toSet());
+
         final List